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Mind-blindness is a concept of a cognitive divergence where an individual is unable to attribute mental states to others. As a result of this kind of social[1] and empathetic cognitive phenomenon, the individual is incapable of putting themselves "into someone else's shoes" and cannot conceptualize, understand or predict knowledge, thoughts, beliefs, emotions, feelings, desires, behaviours, actions and intentions of another person.[2] Such an ability to develop a mental awareness of what is in others' minds is known as the theory of mind (ToM),[3] and the "mind-blindness" theory asserts that children who delay in this development often will develop autism.[4][5] In addition to the research done on autism, ToM and mind-blindness research has recently been extended to other fields such as schizophrenia, dementia, bipolar disorders, antisocial personality disorders as well as normal aging.[6]
## Contents
* 1 Relevance and causes
* 1.1 Theory of mind
* 1.2 Theory of Mind in children
* 1.3 Biological basis
* 1.4 Relationship to autism
* 1.5 Relationship to schizophrenia
* 1.6 Criticism
* 2 See also
* 3 Citations
* 4 References
## Relevance and causes[edit]
### Theory of mind[edit]
Main article: Theory of mind
Mind-blindness is a state where the ToM has not been developed, or has been lost in an individual. According to the theory, ToM is implicit in neurotypical individuals. This enables one to make automatic interpretations of events taking into consideration the mental states of people, their desires and beliefs. Simon Baron-Cohen described how an individual lacking a ToM would perceive the world in a confusing and frightening manner, leading to a withdrawal from society.[7] Since Cohen's opinion was based on the idea that biology is strictly linked to autistic behavior, he started wondering if a delayed development of the theory of mind would lead to additional psychiatric complications. Moreover, he wondered if multiple degrees of mental blindness exist.[8]
An alternative approach to the social impairment observed in mind-blindness focuses on the emotion of subjects. Based on empirical evidence, Uta Frith concluded that the processing of complex cognitive emotions is impaired compared to simpler emotions. In addition, attachment does not seem to fail in the early childhood of autistics. This suggests that emotion is a component of social cognition that is separable from mentalizing.[1]
Lombardo and Cohen updated the theory and pinpointed some additional factors that play an important part in ToM of autistic people. They highlighted that the middle cingulate cortex which is outside the traditional mentalizing region was underactive in autistic patients, while the rest of ToM activation was normal. This region was important in deciding how much to invest in a person and hence required mentalization.[9]
### Theory of Mind in children[edit]
Scholars have recently wondered if children do possess a theory of mind. Specifically, Wellman and others have wondered if the theory of mind that characterizes adults is somehow different from the one that characterizes children.[10] According to the studies conducted by Wellman, children starting from three years of age, do possess a theory of mind.[10] Wellman is not the only scholar who was interested in discovering about the theory of mind and its divergent characteristics that effect both children and adults. Indeed, scholar Wang, in her work Mindful learning: Children's developing theory of mind and their understanding of the concept of learning argues that the “theory of mind development is critical for children to engage in mindful learning, which refers to the learning during which the learner is consciously aware of own mental states and the changes in them, both motivational and epistemic mental states”.[11] Wang was able to demonstrate that children develop theory of mind as they understand how to conceptualize learning.[11] Indeed, Wang argued, during preschool years children become able to consider learning as the “representational knowledge change in the mind”.[11]
Additionally, Wang was also able to demonstrate that children that belong to divergent cultures develop theory of mind in different ways. Al-Hilawani, Easterbrooks, and Marchant (2002), who tried to understand the phenomenon regarding the development of the theory of mind in children from different cultures, reported that children with hearing loss, and therefore children who could potentially have problems developing the theory of mind, are “similar to hearing children in their ability to learn and reason if they are from the same culture, but not necessarily if the two groups of students are from different cultures”.[12]
### Biological basis[edit]
Neural correlates of the ToM point towards three regions of the brains. The anterior paracingulate cortex (Brodmann), is considered at the key region of mentalizing. It is located anterior corpus callosum and the anterior cingulate cortex. This cortex is associated with the medial frontal cortex where activation is associated with the mentalization of states. The cells of the ACC develops at the age of 4 months suggesting that the manifestations of mind-blindness may occur around this time.[2]
In addition to the anterior paracingulate cortex, there is the superior temporal sulcus and the temporal poles that are involved with the ToM and its nature. However, these areas are not uniquely associated with mentalization. They aid in the activation of the regions that are associated with the ToM. The superior temporal sulcus is therefore involved in the processing of behavioural information, while the temporal poles are involved in the retrieval of personal experiences. These are considered important regions for the activation of the ToM regions and are associated with the mind-blindness. The temporal poles provide personal experiences for mentalization such as facial recognition, emotional memory and familiar voices. In patients suffering from semantic dementia, for example, the temporal regions of these patients undergo atrophy and lead to certain deficits which can cause mind-blindness.[2]
Superior temporal sulcus
The amygdala and the orbitofrontal cortex also are a part of the ToM. Those mental structures seem to be involved in the interpretation of behavior. It is suspected, in fact, that the damage to the orbitofrontal cortex brings upon subtle impairments, but not a total loss of the ToM that would lead to mind-blindness.[2] Some studies[citation needed] have shown that the orbitofrontal cortex is not directly associated with the theory of the mind or mind-blindness. However, a study by Stone and colleagues were able to show impaired ToM on mentalisation tasks.[13]
Surely, as reported by Gallagher and Firth (2003), neuroimaging plays a significant role “in determining the precise functions of the neural substrates comprising [...] the mechanisms underlying theory of mind.” [14] The question that now remains unanswered is if the amygdala and the orbital frontal cortex do play a role in the acquisition of the theory of mind or not.
Since the frontal lobe is associated with executive function, researchers theorize that the frontal lobe plays an important role in ToM and its associated nature. It has also been suggested that the executive function and the theory of mind share the same regions.[15] Despite the fact that ToM and mind-blindness can explain executive function deficits, it is argued that autism is not identified with the failure of the executive function.[16]
Lesion studies show that when lesions are imposed to the medial frontal lobe, performance on mentalization tasks is reduced, similar to typical mind-blindness cases.[17] Patients that experienced frontal lobe injuries due to severe head trauma showed signs of mind blindness, as a result of a lost ToM. However, it is still debated whether the inactivation of the medial frontal lobe is involved in mind-blindness.[18]
Frith proposed that a neural network that comprised the medial prefrontal cortex, the anterior cingulate cortex and the STS, is crucial for the normal functioning of ToM and self monitoring. This so formed dorsal system is crucial for social cognition. Disruption of this neural network leads to mind-blindness in schizophrenic individuals.[19]
Another element that might give a possible explanation of mind-blindness in people with autism was discussed by Castelli and colleagues. For instance, they were able to show that the connectivity between occipital and the temporo-parietal regions were weaker in the autistic group than the control group. The under activation of this network may inhibit the interactive influences between regions that process higher and lower perceptual items.[1]
### Relationship to autism[edit]
Individuals with autism tend to experience episodes of mind blindness.
According to the psychologist Uta Frith, individuals with social and communication impairments, such as who is affected by autism, will experience difficulties in the process of attributing mental states, as desires and beliefs, to themselves or to others.[20] In her article "Mind Blindness and Brain in Autism", Frith discusses the differences between mind reading and mind blindness, and how those phenomena are experienced in the mind of a person with autism. Additionally, Frith affirms that individuals that are affected by autism, have “occasionally commented on what they perceive as an unfathomable yet ubiquitous ability of other people to “mind read” during ordinary social interactions. Normal people indeed behave as if they have an implicit theory of mind, and this allows them to explain and predict others’ behavior in terms of their presumed thoughts and feelings”.[20]
To contrast this idea, Carruthers, in his book Theories of Mind, explains that people affected by autism have more issues than just those argued by the theory of mind, and that those issues do not exclusively involve predicting other individuals’ behavior. Carruthers seems to argue that the “mind-blindness theory has only appeared to be losing out [...] , because its proponents have paid insufficient attention to the consequences of their view for the access [...] that autistic people will have to their own mental states.”[21]
Moreover, it is important to say that it has been discovered that lower performance on the mentalization tasks were the first screening task used to diagnose the autism, with a good prediction level.[1]
Cohen proposed the mind-blindness theory of autism as "deficits in the normal process of empathising". He described empathising to include the ToM, mind reading and taking an intentional stance. According to this view, empathising includes the ability to attribute mental states and to react in an appropriate emotional manner that is appropriate to another's mental state. More deficits tend to occur in reference to one's own mental states compared to the other's mental states. It has been proposed that individuals affected by autism undergo a specific developmental delay in the area of metarepresentational development. Such delay has been demonstrate to facilitate mind-blindness.[22]
There is some evidence that suggests that certain patients develop a rudimentary ToM and do not suffer from complete lack of ToM causing mind-blindness.[22] A study by Bowler concluded that mind-blindness and social impairment is not as straightforward as previously thought. Such study, for instance, showed that a complete possession of ToM was not enough to protect from social impairments in individuals affected by autism. Conversely, has been demonstrated that the absence or impairment of the ToM that leads to mind-blindness does not lead to social impairments.[23]
The social and cognitive differences seen in individuals affected by autism are often attributed to mind-blindness. Abnormal behaviour of autistic children is therefore perceived to include a lack of reciprocity. Some cases in which mind-blindness is manifested could include the child being totally withdrawn from social settings as well as the child's incapacity to make eye contact, while he or she may instead attempt to interact with other people. However, global asocial behaviour is not the rule in autism. Cohen described the cognitive/mind-blindness effects in individuals diagnosed with autism as a "triad of deficits." The triad consists of deficits in social, communication and imagination of others' minds.[22]
Ozonoff and colleagues were able to discriminate between individuals diagnosed with the Asperger's syndrome and other individuals affected with autism by their ability to solve ToM tasks. This was possible because those diagnosed with AS seem more neurotypical in early childhood development. The siblings of individuals diagnosed with AS were shown to have a lesser variant of ToM deficits. This shows that the cognitive deficits affecting ToM play a central role in the phenotype expressed in AS diagnoses.[24] However, since today's perceptive about autism and Asperger disorder has changed, Ozonoff research might no longer be considered among other scholars. In fact, the DSM 5 no longer presents the differences between autism and Asperger disorder. Autism is now referred to as autism spectrum disorder (ASD), and there are no more differences between all of the subcategories of such disorder. Such subcategories include Asperger syndrome, pervasive developmental disorder, and disintegrative disorder.[25] Unfortunately, “despite this change in diagnostic criteria, the number of diagnosed cases of autism spectrum disorder (ASD) is much higher than expected”.[26] As reported by Johnson and Myers (2017), “ASDs are not rare [...] In fact, a survey completed in 2004 revealed that 44% of primary care pediatricians reported that they care for at least 10 children with ASDs”.[27]
### Relationship to schizophrenia[edit]
People with schizophrenia also show deficits associated with mind-blindness.[3] In fact, as stated by Brune, “there is good empirical evidence that the theory of minds is specifically impaired in schizophrenia and that many psychotic symptoms—for instance, delusions of alien control and persecution, the presence of thought and language disorganization, and other behavioral symptoms—may best be understood in light of a disturbed capacity in patients to relate their own intentions to executing behavior, and to monitor others’ intentions.”[28]
However, there is an ongoing debate as to whether individuals with schizophrenia have an impaired ToM leading to mind-blindness or display an exaggerated ToM. Unlike autism, schizophrenia is a late-onset condition. It is speculated that this difference in the condition may account for differences seen in the ToM abilities.[29] Brain lesion studies show that there are differences seen in the laterality of the brain that account for mind-blindness. However, it is unknown whether the ToM in schizophrenia deteriorates in the affected person as the condition progresses.[6]
The cognitive impairment linked to mind-blindness is best explained by a modular theory; the domain specific capabilities that account for mind-reading and mentalization are lost in schizophrenia. Some studies on this have been conducted by Cleghorn and Albert (1990), whose purpose was to understand schizophrenia from multiple angles, such as neurobiology, neuropsychology, and cognitive science. They found that while “individual modules of cognitive and emotional function may be intact in schizophrenia, messages are inappropriately sent to parts of the brain not specialized for the required information [...]thus, 'modular disjunction' of widely distributed neural systems develops, causing the signs and symptoms of schizophrenic psychosis.” [30]
Furthermore, Frith has predicted that the extent of mind-blindness depends on whether the objective/behavioural or subjective symptoms of ToM abilities prevail.[1] Patients with the behavioural symptoms perform the poorest in ToM tasks, similar to autistic subjects, while patients displaying subjective/experiential symptoms have a ToM. However, these patients are impaired in using contextual information to infer what these mental states are.[6]
Some scholars have decided to look deeper into Frith's work and question her theory. In their work Theory of Mind in Schizophrenia: A Critical Review, Professors Harrington, Siegert, and McClure (2005) state: “Issues that demand further clarification include: Is the deficit a state or a trait? How to measure ToM in schizophrenia research, and whether certain symptoms or groups of symptoms are associated with the ToM deficit."[31]
### Criticism[edit]
The mind-blindness theory helps to explain the impairment in the social development of individuals as well as the impairment in the communication skills of autistics. However one of the most important limitations of this theory is that it is unable to explain the highly repetitive behaviours which is a characteristic trait attributed to autistic people. This triad is explained through the process of systemising.[22] The theory also did not account for the motor problems and the superior rote memory skills that were associated with autism.[1] These aspects along with the highly repetitive behaviours formed the triad of strengths. Simon Baron-Cohen himself has acknowledged that the theory, while adept at explaining the communications difficulties experienced by autistic people, fails to explain such patients' penchants for narrowly defined interests, an important step to proper diagnosis. Furthermore, mind-blindness seems decidedly non-unique to autistic people, since conditions ranging from schizophrenia to various narcissistic personality disorders and/or anti-social personality disorders all exhibit mind-blindness to some degree.[4]
Another issue associated with the mind-blindness theory is that researchers are unable to predict whether the social deficits are a primary or secondary result of mind-blindness. In addition, Klin and his fellow researchers highlighted another limitation that was that the mind-blindness theory failed to delineate whether the ToM deficits are a generalised deficit or a specific discrete of a mechanism.[32] Stuart Shanker also argued in favour of Klin's argument, that a major part of the mind-blindness theory depicts the ToM as an autonomous cognitive capacity compared to being part of a more general ability for reflective thinking and empathy.[33]
A boy with autism, obsessively stacking cans.
Other researchers have pointed out the inherent flaws of assuming autistic traits develops from a "theory of mind" deficit, pointing out that this presupposes autistic traits derives from a single, core insufficiency within the brain. This contrasts, they say, with the very same researchers' description of autism as a "puzzle", which implies a far more diverse range of causes than a single, unifying theory.[34]
Many have also pointed out that Mind-blindness wrongly categorizes autism as a problem to be fixed, rather than a condition to be accommodated. This assumes an inherent lack of intelligence[how?] in individuals affected by autism, which ignores the nuanced view of intelligence (as in varying types of intelligence) that has been observed in cognitive research.[34]
The drawbacks in the Mind-blindness theory of individuals diagnosed with autism paved way for the E-S theory which helps to explain the observations seen in these individuals. The E-S theory accounts for both the triad of deficits which is the loss of empathising and the triad of strengths is related to hyper systemisation of certain behaviours. The theory also helps to explain the exaggerated male spectrum termed as the extreme male behavior.[35]
## See also[edit]
* Alexithymia
## Citations[edit]
1. ^ a b c d e f Frith, Uta (20 December 2001). "Mind Blindness and the Brain in Autism". Neuron. 32 (6): 969–979. doi:10.1016/S0896-6273(01)00552-9. PMID 11754830.
2. ^ a b c d Gallagher, Helen L.; Frith, Christopher D. (1 February 2003). "Functional imaging of 'theory of mind'" (PDF). Trends in Cognitive Sciences. 7 (2): 77–83. doi:10.1016/S1364-6613(02)00025-6. PMID 12584026. S2CID 14873867.
3. ^ a b Pijnenborg; et al. (June 2013). "Insight in schizophrenia: associations with empathy". European Archives of Psychiatry and Clinical Neuroscience. 263 (4): 299–307. doi:10.1007/s00406-012-0373-0. PMID 23076736. S2CID 25194328.
4. ^ a b Baron-Cohen, Simon (25 March 2009). "Autism: The Empathizing-Systemizing (E-S) Theory". Annals of the New York Academy of Sciences. 1156, The Year in Cognitive Neuroscience (1): 68–80. Bibcode:2009NYASA1156...68B. doi:10.1111/j.1749-6632.2009.04467.x. PMID 19338503. S2CID 1440395.
5. ^ Jurecic, Ann (Spring 2006). "Mindblindness: Autism, Writing, and the Problem of Empathy". Literature and Medicine. 25 (1): 1–23. doi:10.1353/lm.2006.0021. PMID 17040082. S2CID 2822141.
6. ^ a b c Brune, M. (1 January 2005). ""Theory of Mind" in Schizophrenia: A Review of the Literature". Schizophrenia Bulletin. 31 (1): 21–42. doi:10.1093/schbul/sbi002. PMID 15888423.
7. ^ Baron-Cohen, Simon (1990). "Autism: a specific cognitive disorder of 'mind-blindness". International Review of Psychiatry. 2 (1): 81–90. doi:10.3109/09540269009028274.
8. ^ Baron-Cohen, Simon (January 1990). "Autism: A Specific Cognitive Disorder of & lsquo;Mind-Blindness'". International Review of Psychiatry. 2 (1): 81–90. doi:10.3109/09540269009028274. ISSN 0954-0261.
9. ^ Lombardo, Michael V.; Baron-Cohen, Simon (1 March 2011). "The role of the self in mindblindness in autism". Consciousness and Cognition. 20 (1): 130–140. doi:10.1016/j.concog.2010.09.006. PMID 20932779. S2CID 18514954.
10. ^ a b Wellman, Henry M.; Cross, David (May 2001). "Theory of Mind and Conceptual Change". Child Development. 72 (3): 702–707. doi:10.1111/1467-8624.00309. ISSN 0009-3920. PMID 11405576.
11. ^ a b c Okamoto, Yukari (2010), "Children's Developing Understanding of Number: Mind, Brain, and Culture", The Developmental Relations among Mind, Brain and Education, Springer Netherlands, pp. 129–148, doi:10.1007/978-90-481-3666-7_6, ISBN 978-90-481-3665-0
12. ^ Al-Hilawani, Yasser A.; Easterbrooks, Susan R.; Marchant, Gregory J. (2002). "Metacognitive Ability From a Theory-of-Mind Perspective: A Cross-Cultural Study of Students With and Without Hearing Loss". American Annals of the Deaf. 147 (4): 38–47. doi:10.1353/aad.2012.0230. ISSN 1543-0375. PMID 12592804. S2CID 25537500.
13. ^ Stone, V.E.; Baron-Cohen, S.; Knight, R.T. (September 1998). "Frontal lobe contributions to the theory of mind". Journal of Cognitive Neuroscience. 10 (5): 640–656. doi:10.1162/089892998562942. PMID 9802997. S2CID 207724498.
14. ^ Gallagher, Helen L.; Frith, Christopher D. (February 2003). "Functional imaging of 'theory of mind'". Trends in Cognitive Sciences. 7 (2): 77–83. CiteSeerX 10.1.1.319.778. doi:10.1016/s1364-6613(02)00025-6. ISSN 1364-6613. PMID 12584026. S2CID 14873867.
15. ^ Josef Perner & Birgit Lang (1 September 1999). "Development of theory of mind and executive control". Trends in Cognitive Sciences. 3 (9): 337–344. doi:10.1016/s1364-6613(99)01362-5. PMID 10461196. S2CID 11112882.
16. ^ Carruthers, Peter (1996). "Chapter 16. Autism as Mind-Blindness: an elaboration and partial defence (pp. 257 ff.)". In Carruthers, Peter; Smith, Peter K. (eds.). Theories of Theories of Mind. Cambridge University Press. ISBN 978-0-521-55916-4.
17. ^ Havet-Thomassin; P. Allain; F. Etcharry-Bouyx; D. le Gall (2006). "What about theory of mind after severe brain injury?". Brain Injury. 20 (1): 83–91. doi:10.1080/02699050500340655. PMID 16403703. S2CID 22363121.
18. ^ Bird, C. M. (14 January 2004). "The impact of extensive medial frontal lobe damage on 'Theory of Mind' and cognition". Brain. 127 (4): 914–928. doi:10.1093/brain/awh108. PMID 14998913.
19. ^ Frith, Uta; Frith, C.D. (October 2001). "The biological basis of social interaction". Current Directions in Psychological Science. 10 (5): 151–155. doi:10.1111/1467-8721.00137. S2CID 7054719.
20. ^ a b Frith, Uta (December 2001). "Mind Blindness and the Brain in Autism". Neuron. 32 (6): 969–979. doi:10.1016/s0896-6273(01)00552-9. ISSN 0896-6273. PMID 11754830. S2CID 18120580.
21. ^ Carruthers, Peter; Smith, Peter K., eds. (1996-02-23). Theories of Theories of Mind. doi:10.1017/cbo9780511597985. ISBN 9780521551106.
22. ^ a b c d Baron-Cohen, S. (1 July 2004). "The cognitive neuroscience of autism". Journal of Neurology, Neurosurgery, and Psychiatry. 75 (7): 945–948. doi:10.1136/jnnp.2003.018713. PMC 1739089. PMID 15201345.
23. ^ Bowler, Dermont. M. (July 1992). "Theory of Mind in Asperger's syndrome". Journal of Child Psychology and Psychiatry. 33 (5): 877–893. doi:10.1111/j.1469-7610.1992.tb01962.x. PMID 1378848.
24. ^ Ozonoff, S; Rogers, S. & Pennington, B. (November 1991). "Asperger's syndrome: Evidence for an empirical distinction from high-functioning autism". Journal of Child Psychology and Psychiatry. 32 (7): 1107–1122. doi:10.1111/j.1469-7610.1991.tb00352.x. PMID 1787139.CS1 maint: multiple names: authors list (link)
25. ^ Solerdelcoll Arimany, Mireia (2017-08-23). "Diagnostic stability of autism spectrum disorders with the DSM-5 diagnostic criteria". doi:10.26226/morressier.5971be87d462b80290b53368. Cite journal requires `|journal=` (help)
26. ^ "EBV-Transformed Late Germinal Center/Post-Germinal Center B-Lymphocyte", Definitions, Qeios, 2020-02-07, doi:10.32388/gskru1
27. ^ Johnson, C. P.; Myers, S. M. (2007-10-29). "Identification and Evaluation of Children With Autism Spectrum Disorders". Pediatrics. 120 (5): 1183–1215. doi:10.1542/peds.2007-2361. ISSN 0031-4005. PMID 17967920.
28. ^ Brune, M. (2005-01-01). ""Theory of Mind" in Schizophrenia: A Review of the Literature". Schizophrenia Bulletin. 31 (1): 21–42. doi:10.1093/schbul/sbi002. ISSN 0586-7614. PMID 15888423.
29. ^ Langdon, Robyn (2007) [2005]. "Chapter 21. Theory of Mind in Schizophrenia (pp. 323 ff.)". In Malle, Bertram F.; Hodges, Sara D. (eds.). Other Minds. How Humans Bridge the Divide Between Self And Others. New York City: Guilford Press. ISBN 978-1-593-85468-3.
30. ^ Cleghorn, John M.; Albert, Martin L. (1990), "Modular Disjunction in Schizophrenia: A Framework for a Pathological Psychophysiology", International Perspectives Series: Psychiatry, Psychology, and Neuroscience, Springer New York, pp. 59–80, doi:10.1007/978-1-4612-3248-3_3, ISBN 978-0-387-97221-3
31. ^ Harrington, Leigh; Siegert, Richard; McClure, John (August 2005). "Theory of mind in schizophrenia: A critical review". Cognitive Neuropsychiatry. 10 (4): 249–286. doi:10.1080/13546800444000056. ISSN 1354-6805. PMID 16571462. S2CID 11582492.
32. ^ Klin, Ami., Folkmar, Fred R., Sparrow, Sara S. (July 1992). "Autistic Social Dysfunction: Some limitations of the Theory of Mind hypothesis". Journal of Child Psychology and Psychiatry. 33 (5): 861–876. doi:10.1111/j.1469-7610.1992.tb01961.x. PMID 1378847.CS1 maint: multiple names: authors list (link)
33. ^ Shanker, S. (1 October 2004). "The Roots of Mindblindness". Theory & Psychology. 14 (5): 685–703. doi:10.1177/0959354304046179. S2CID 143801835.
34. ^ a b Smukler, David (February 2005). "Unauthorized Minds: How 'Theory of Mind' Theory Misrepresents Autism". Mental Retardation. 43 (1): 11–24. doi:10.1352/0047-6765(2005)43<11:UMHTOM>2.0.CO;2. PMID 15628930.
35. ^ Baron-Cohen, S.; Knickmeyer, Rebecca S.; Belmonte, Mathew S. (4 November 2005). "Sex Differences in the Brain: Implications for Explaining Autism" (PDF). Science. 310 (5749): 819–823. Bibcode:2005Sci...310..819B. doi:10.1126/science.1115455. PMID 16272115. S2CID 44330420.
## References[edit]
* Geoffrey Cowley, "Understanding Autism," Newsweek, July 31, 2000.
* Simon Baron-Cohen, "First lessons in mind reading," The Times Higher Education Supplement, July 16, 1995.
* Suddendorf, T., & Whiten, A. (2001). "Mental evolution and development: evidence for secondary representation in children, great apes and other animals." Psychological Bulletin, 629–650.
* Al-Hilawani, Y. A., Easterbrooks, S. R., & Marchant, G. J. (2002). Metacognitive ability from a theory-of-mind perspective: A cross-cultural study of students with and without hearing loss. American Annals of the Deaf, 38-47.
* Baron-Cohen, S. (1990). Autism: A Specific Cognitive Disorder of & lsquo; Mind-Blindness’. International Review of Psychiatry, 2(1), 81-90. Brüne, M. (2005). “Theory of mind” in schizophrenia: a review of the literature. Schizophrenia Bulletin, 31(1), 21-42.
* Carruthers, P., & Smith, P. K. (Eds.). (1996). Theories of theories of mind. Cambridge University Press.
* Cleghorn, J. M., & Albert, M. L. (1990). Modular disjunction in schizophrenia: A framework for a pathological psychophysiology. In Recent Advances in Schizophrenia (pp. 59–80). Springer, New York, NY.
* Frith, U. (2001). Mind blindness and the brain in autism. Neuron, 32(6), 969-979.
* Gallagher, H. L., & Frith, C. D. (2003). Functional imaging of ‘theory of mind’. Trends in Cognitive Sciences, 7(2), 77-83.
* Harrington, L., Siegert, R., & McClure, J. (2005). Theory of mind in schizophrenia: a critical review. Cognitive Neuropsychiatry, 10(4), 249-286.
* Hyman, S. L. (2013). New DSM-5 includes changes to autism criteria. AAP News, 4, 20130604-1.
* Johnson, C. P., & Myers, S. M. (2007). Identification and evaluation of children with autism spectrum disorders. Pediatrics, 120(5), 1183-1215.
* National Autism Center. (2020). Online post. https://www.nationalautismcenter.org/
* Wang, Z. (2010). Mindful learning: Children's developing theory of mind and their understanding of the concept of learning.
* Wellman, H. M. (1992). The MIT Press series in learning, development, and conceptual change. The child's Theory of Mind. The MIT Press.
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*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Mind-blindness
|
None
| 28,200 |
wikipedia
|
https://en.wikipedia.org/wiki/Mind-blindness
| 2021-01-18T18:30:13 |
{"wikidata": ["Q1443721"]}
|
Symmetric infantile thalamic degeneration with mineralization is an exceedingly rare condition (Rosales and Riggs, 1962; Ambler and O'Neil, 1975). The cause is unknown. It is associated with severe neurologic impairment and early death, and until the report of Abuelo et al. (1981) was considered to be a sporadic disorder with no appreciable risk of familial recurrence. Abuelo et al. (1981) described brother and sister, the products of nonconsanguineous parents and seemingly normal gestations, who had neurologic abnormalities starting within hours of birth and progressing to death at 3 weeks and 2 months of age, respectively. There were no dysmorphic external physical features. Both patients and those reported by Rosales and Riggs (1962) had spasticity, an unusual finding in the first weeks of life. Other clinical features were low Apgar scores, poor or absent suck reflex, and later development of apnea and seizures. The brother had lesions restricted to the thalamus, whereas the sister had thalamic lesions as well as a wider distribution of damage to cells. Both had cellular mineral deposits.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
THALAMIC DEGENERATION, SYMMETRIC INFANTILE
|
c2931220
| 28,201 |
omim
|
https://www.omim.org/entry/273490
| 2019-09-22T16:21:46 |
{"mesh": ["C536504"], "omim": ["273490"]}
|
A number sign (#) is used with this entry because of evidence that early infantile epileptic encephalopathy-51 (EIEE51) is caused by compound heterozygous mutation in the MDH2 gene (154100) on chromosome 7q11.
Description
Early infantile epileptic encephalopathy-51 is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017).
For a discussion of genetic heterogeneity of EIEE, see 308350.
Clinical Features
Ait-El-Mkadem et al. (2017) reported 3 unrelated boys with EIEE51. Two patients were 5 and 12 years of age, whereas the third died at age 1.5 years. Two patients presented in the neonatal period with hypotonia, poor head control, and seizures, whereas the other patient presented these symptoms around 5 months of age. The patients had refractory epilepsy with generalized and myoclonic seizures. All had severely delayed psychomotor development with absent language. Additional common features seen in at least 2 patients included failure to thrive, constipation, pyramidal signs, dystonia, extensor plantar responses, and strabismus. One patient had retinitis pigmentosa and another had 2 supernumerary nipples. Laboratory studies showed increased blood and CSF lactate. Brain imaging showed nonspecific findings, including atrophy of the corpus callosum, delayed myelination, and cerebral and/or cerebellar atrophy. One patient had decreased activity of mitochondrial complex V in liver, but not in muscle, and another had a slight decrease in mitochondrial complex V activity in muscle and mild complex I deficiency in fibroblasts.
Inheritance
The transmission pattern of EIEE51 in the families reported by Ait-El-Mkadem et al. (2017) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 unrelated boys with EIEE51, Ait-El-Mkadem et al. (2017) identified compound heterozygous mutations in the MDH2 gene (154100.0001-154100.0004). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Functional studies in fibroblasts from 2 patients showed a loss of MDH2 protein and almost undetectable MDH2 enzymatic activity, which could be restored by complementation with wildtype MDH2. Patient cells showed accumulation of the MDH2 substrates malate and fumarate. Expression of the homologous mutations into yeast resulted in a growth defect, supporting the pathogenicity. However, patient cells did not show substantial defects in mitochondrial respiratory chain activity, and the mitochondrial filamentous network appeared normal.
INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Poor head control Eyes \- Strabismus \- Retinitis pigmentosa (1 patient) CHEST Breasts \- Supernumerary nipples (1 patient) ABDOMEN Gastrointestinal \- Constipation \- Poor feeding MUSCLE, SOFT TISSUES \- Hypotonia, neonatal Muscle weakness \- Muscle atrophy NEUROLOGIC Central Nervous System \- Epileptic encephalopathy \- Delayed psychomotor development \- Seizures, generalized \- Seizures, myoclonic \- Absent speech \- Delayed crawling, sitting \- Inability to walk \- Abnormal movements \- Pyramidal signs (in some patients) \- Extensor plantar responses (in some patients) \- Dystonia (in some patients) Cerebral atrophy \- Cerebellar atrophy \- Hypoplasia of the corpus callosum \- Delayed myelination Peripheral Nervous System \- Hyporeflexia (1 patient) LABORATORY ABNORMALITIES \- Increased serum lactate \- Increased CSF lactate \- Variable and mild decrease in mitochondrial respiratory activity in muscle, liver, or fibroblasts (in some patients) \- Increased levels of fumarate or malate MISCELLANEOUS \- Onset in neonatal period or first months of life \- Three unrelated patients have been reported (last curated February 2017) \- One patient died in early childhood MOLECULAR BASIS \- Caused by mutation in the mitochondrial malate dehydrogenase gene (MDH2, 154100.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 51
|
c4479208
| 28,202 |
omim
|
https://www.omim.org/entry/617339
| 2019-09-22T15:46:05 |
{"omim": ["617339"]}
|
Rare genetic condition characterised by cutaneous or subcutaneous ossification
Progressive osseous heteroplasia
SpecialtyDermatology
Progressive osseous heteroplasia is a cutaneous condition characterized by cutaneous or subcutaneous ossification.[1]
According to the Progressive Osseous Heteroplasia Association:
> Progressive Osseous Heteroplasia (POH) is a rare genetic condition in which the body makes extra bone in locations where bone should not form. Extra bone develops inside skin, subcutaneous tissue (fat tissue beneath the skin), muscles, tendons, and ligaments. This ”out of place extra bone formation” is commonly referred to as heterotopic ossification. In people with POH, nodules and lace-like webs of extra bone extend from the skin into the subcutaneous fat and deep connective tissues, and may cross joints. Extra bone formation near the joints may lead to stiffness, locking, and permanent immobility.”[2]
It is associated with GNAS.[3]
## See also[edit]
* Punctate porokeratosis
* List of cutaneous conditions
* Pseudopseudohypoparathyroidism
## References[edit]
1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
2. ^ "About POH Disease". Retrieved 2012-06-15.
3. ^ Adegbite NS, Xu M, Kaplan FS, Shore EM, Pignolo RJ (July 2008). "Diagnostic and mutational spectrum of progressive osseous heteroplasia (POH) and other forms of GNAS-based heterotopic ossification". Am. J. Med. Genet. A. 146A (14): 1788–96. doi:10.1002/ajmg.a.32346. PMC 2564798. PMID 18553568.
## External links[edit]
Classification
D
* OMIM: 166350
* MeSH: C562735
* DiseasesDB: 34694
* v
* t
* e
Deficiencies of intracellular signaling peptides and proteins
GTP-binding protein regulators
GTPase-activating protein
* Neurofibromatosis type I
* Watson syndrome
* Tuberous sclerosis
Guanine nucleotide exchange factor
* Marinesco–Sjögren syndrome
* Aarskog–Scott syndrome
* Juvenile primary lateral sclerosis
* X-Linked mental retardation 1
G protein
Heterotrimeic
* cAMP/GNAS1: Pseudopseudohypoparathyroidism
* Progressive osseous heteroplasia
* Pseudohypoparathyroidism
* Albright's hereditary osteodystrophy
* McCune–Albright syndrome
* CGL 2
Monomeric
* RAS: HRAS
* Costello syndrome
* KRAS
* Noonan syndrome 3
* KRAS Cardiofaciocutaneous syndrome
* RAB: RAB7
* Charcot–Marie–Tooth disease
* RAB23
* Carpenter syndrome
* RAB27
* Griscelli syndrome type 2
* RHO: RAC2
* Neutrophil immunodeficiency syndrome
* ARF: SAR1B
* Chylomicron retention disease
* ARL13B
* Joubert syndrome 8
* ARL6
* Bardet–Biedl syndrome 3
MAP kinase
* Cardiofaciocutaneous syndrome
Other kinase/phosphatase
Tyrosine kinase
* BTK
* X-linked agammaglobulinemia
* ZAP70
* ZAP70 deficiency
Serine/threonine kinase
* RPS6KA3
* Coffin-Lowry syndrome
* CHEK2
* Li-Fraumeni syndrome 2
* IKBKG
* Incontinentia pigmenti
* STK11
* Peutz–Jeghers syndrome
* DMPK
* Myotonic dystrophy 1
* ATR
* Seckel syndrome 1
* GRK1
* Oguchi disease 2
* WNK4/WNK1
* Pseudohypoaldosteronism 2
Tyrosine phosphatase
* PTEN
* Bannayan–Riley–Ruvalcaba syndrome
* Lhermitte–Duclos disease
* Cowden syndrome
* Proteus-like syndrome
* MTM1
* X-linked myotubular myopathy
* PTPN11
* Noonan syndrome 1
* LEOPARD syndrome
* Metachondromatosis
Signal transducing adaptor proteins
* EDARADD
* EDARADD Hypohidrotic ectodermal dysplasia
* SH3BP2
* Cherubism
* LDB3
* Zaspopathy
Other
* NF2
* Neurofibromatosis type II
* NOTCH3
* CADASIL
* PRKAR1A
* Carney complex
* PRKAG2
* Wolff–Parkinson–White syndrome
* PRKCSH
* PRKCSH Polycystic liver disease
* XIAP
* XIAP2
See also intracellular signaling peptides and proteins
This dermatology article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Progressive osseous heteroplasia
|
c0334041
| 28,203 |
wikipedia
|
https://en.wikipedia.org/wiki/Progressive_osseous_heteroplasia
| 2021-01-18T19:01:59 |
{"gard": ["109"], "mesh": ["C562735"], "umls": ["C0334041"], "orphanet": ["2762"], "wikidata": ["Q7248854"]}
|
## Clinical Features
Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease characterized by persistent pulmonary embolism resulting in pulmonary hypertension and consequent right heart failure. The estimated annual incidence of CTEPH is 500 to 2,500 patients in the U.S. and the estimated prevalence in Japan is about 450 patients. Although deep vein thrombosis (DVT) may be a predisposing factor, many patients do not have concurrent DVT, suggesting that there are different clinical categories, namely DVT-positive CTEPH and DVT-negative CTEPH (Kominami et al., 2009).
Mapping
Among 160 Japanese patients with CTEPH, 99 without DVT and 61 with DVT, and 380 controls, Kominami et al. (2009) identified multiple associations between DVT-negative CTEPH and markers on chromosome 6p21.3. The associations were for marker DPB1*0202 of the HLA-DPB1 gene (142858) (OR, 5.07; corrected p value = 0.00014), IKBLp*03 of the NFKBIL1 gene (601022) (OR, 2.33; corrected p value = 0.033), and HLA-B*5201 of the HLA-B gene (142830) (OR, 2.47; corrected p value = 0.016). There were no significant associations between these markers and DVT-positive disease. A comparison of clinical characteristics stratified by susceptibility genes suggested that the HLA-DPB1 gene controlled the severity of the vascular lesion, whereas the NFKBIL1 gene was associated with a relatively mild phenotype. The findings suggested a role for inflammation in the development of the disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
PULMONARY HYPERTENSION, CHRONIC THROMBOEMBOLIC, WITHOUT DEEP VEIN THROMBOSIS, SUSCEPTIBILITY TO
|
c2363973
| 28,204 |
omim
|
https://www.omim.org/entry/612862
| 2019-09-22T16:00:27 |
{"omim": ["612862"], "orphanet": ["70591"], "synonyms": ["Alternative titles", "CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO"]}
|
17q11.2 microduplication syndrome is characterized by dysmorphic features and intellectual deficit.
## Epidemiology
It has been described in seven patients within one family.
## Clinical description
There is a marked clinical heterogeneity between patients. Striking findings are intellectual deficit, early onset of baldness (15 years of age) and dental enamel hypoplasia. Craniofacial dysmorphic features include microcephaly, long midface, malar hypoplasia, sparse eyebrows and thin upper lip. Short stature is common.
## Etiology
17q11.2 microduplication encompasses the NF1 region. This region is involved in the NF1 microdeletion syndrome (neurofibromatosis type 1, see this term). The microduplication was recently identified by microarray-based comparative genomic hybridization (array-CGH). The underlying mechanism may be non-allelic homologous recombination (NAHR). The study of pedigree suggests that this microduplication segregates within the family for at least two generations.
## Genetic counseling
Two patients displayed a normal clinical presentation, suggesting an autosomal dominant pattern of inheritance with incomplete penetrance.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
17q11.2 microduplication syndrome
|
c3150928
| 28,205 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139474
| 2021-01-23T19:10:14 |
{"mesh": ["C563524"], "omim": ["618874"], "umls": ["C3150928"], "icd-10": ["Q92.3"], "synonyms": ["Dup(17)(q11.2)", "Grisart-Destrée syndrome", "Trisomy 17q11.2"]}
|
This article is about cystitis in cats (or feline idiopathic cystitis) which is a sterile condition and does not involve a primary urinary tract infection (urinary tract infections in cats under 10 are very rare). For the human urinary disease, cystitis, which always involves a bacterial infection, see urinary tract infection.
Feline idiopathic cystitis (FIC) or feline interstitial cystitis or cystitis in cats, is one of the most frequently observed forms of feline lower urinary tract disease (FLUTD). Feline cystitis means "inflammation of the bladder in cats". The term idiopathic means unknown cause, meaning the direct cause of feline cystitis is unknown; however, certain behaviours have been known to aggravate the illness once it has been initiated. It can affect both males and females of any breed of cat. It is more commonly found in female cats; however, when males do exhibit cystitis, it is usually more dangerous.[1]
Despite the shared terminology, cases of feline idiopathic cystitis, as opposed to human cystitis episodes, are sterile. In other words, they do not involve a primary bacterial infection. If upon investigation the inflammation of the feline bladder is in fact found to be the result of an infection, then it is no longer considered idiopathic (as a cause has been identified) and it is described as a feline urinary tract infection (UTI) or less commonly, feline bacterial cystitis. However, UTIs in cats under the age of 10 years old are very rarely encountered and whilst other specific reasons for the inflammation may be identified, in most cases it will not have an known cause and remains idiopathic.[2][3] In cats over 10 years of age, UTIs are much more common and idiopathic cases are much less frequently observed.[4] On the other hand, FIC does show several similarities to an analogous disease in humans called bladder pain syndrome.[5][6]
## Contents
* 1 Signs and symptoms
* 1.1 Non-obstructive FIC
* 1.2 Obstructive FIC (“the blocked cat”)
* 1.3 Differential diagnosis of obstructive and non-obstructive cases
* 2 Pathophysiology
* 3 Non-obstructive episodes of FIC
* 3.1 Causes
* 3.2 Treatment of an acute episode
* 4 Obstructive episodes of FIC (“the blocked cat”)
* 4.1 Causes
* 4.1.1 Functional blockage
* 4.1.2 Mechanical blockage
* 4.1.3 Interaction between functional and mechanical blockage in FIC
* 4.1.4 The role of crystals in obstructive FIC
* 4.2 Treatment of an acute episode
* 4.3 Secondary bacterial infection (UTI) after an obstructive episode
* 5 Ongoing management of FIC
* 5.1 Importance of hydration
* 5.2 Environmental modification
* 5.3 Surgical intervention for refractory cases
* 6 References
## Signs and symptoms[edit]
Feline idiopathic cystitis begins as an acute non-obstructive episode and in most cases (around 85%) is self-limiting, resolving itself in around a week. In a smaller number of cases (approximately 15%), it can escalate into an obstructive episode (“blocked cat”) which can be life-threatening for a male cat.[5] The symptoms for both a non-obstructive and an obstructive episode are usually very similar and therefore a careful § differential diagnosis is necessary to distinguish between a suspected obstruction (which is an emergency) and a non-obstructive case (which is not).
Suspected interaction of clinical signs in FIC
### Non-obstructive FIC[edit]
In the case of non-obstructive FIC, the underlying inflammatory process has begun but the disease has not progressed to the extent that it prevents urination (ie there is no obstruction of the urethra). The cat's lower urinary tract is inflamed and the urethral passage may have narrowed due to swelling but it remains open and he can urinate, albeit in discomfort. Clinical signs apparent during an acute episode include:
* Frequent trips to the litter box coupled with straining as a result of an urge to void urinary waste which is irritating the inflamed bladder wall.
* Small volumes of urine usually produced.
* Sensation of incomplete voiding even once bladder is emptied.
* Blood may be present in the urine[7] due to glomerulation or possibly Hunner's ulcers.[8]
* Odorous urine could be exhibited.
* Irritability in personality.
* Lack of interest in normal activities.
* Hiding in a dark, quiet location (hiding is part of the cat's stress coping mechanism).
* Experiencing pain or vocalising when urinating. This may result in the cat avoiding urination due to the pain of excretion which in turn could lead to urine remaining stagnant and concentrated, further irritating the inflamed bladder wall and promoting bladder distension and possible leaking of urine due to overflow incontinence and/or detrusor atony. Concentrated urine also encourages § crystal formation, aggravating the risk of § mechanical obstruction (see below). Note that since cats are adept at hiding their pain, vocalising, crying or any other audible cue may not always be observed.
* Leaking of urine can also occur due to inflammation of the urinary musculature.
* Loss of appetite and/or refusal to drink due to pain.
* Adopting unusual postures to cope with the pain.
* Urinating in places other than the litter box as the cat associates the pain of urination with the litter box.
* Licking/over-grooming in the genital area.
* Lying on cold surfaces, such as tile floors or in showers (the cold surfaces help ease pain).
### Obstructive FIC (“the blocked cat”)[edit]
If the acute flare-up of non-obstructive FIC has not resolved itself, it can progress to an obstructive episode, where the male urethra can become partially or fully blocked (female cats with their larger urethra do not as a rule block in this way). The following clinical signs can then be seen in addition to many of those listed above:
* In the case of full obstruction, unproductive and painful straining with either no urine passed at all or isolated drops produced ("spotting"), despite frequent trips to the litter box.
* Urinary retention due to incomplete voiding as a result of the obstruction. This means the bladder fills but cannot empty, causing bladder distension (the bladder will feel large and tense).[9]
* Involuntary leaking of urine due to paradoxical incontinence (when drops of urine leak past the obstruction due to pressure building up in the distended bladder).[10]
* Increased pain caused by a) stagnant urine collecting in the bladder and aggravating underlying inflammation and b) the increasing distension of the bladder.
* Increased agitation and restlessness.
* Possible vomiting.
* Eventual lethargy and listlessness if a fully obstructive episode progresses unchecked and causes risk to life.
A full obstruction is a medical emergency and must be relieved by a vet immediately. Partial obstructions should also be investigated as soon as possible as they are unlikely to resolve themselves and will most likely escalate to full obstruction. Early interventions lead to better prognoses.
### Differential diagnosis of obstructive and non-obstructive cases[edit]
See also: Differential diagnosis
Symptoms can be confusing as similar clinical signs appear in both obstructive and non-obstructive cases[11] which is problematic as the former is an emergency and the latter is not. For example, a cat suffering from many types of lower urinary tract disease (both non-obstructive and obstructive) will strain to pass urine and can appear restless. Whilst straining does not necessarily mean a cat is "blocked", in a small number of serious cases it does. Usually in a non-obstructive case, small amounts of urine will still be passed but where there is an obstruction, no urine at all (or only isolated drops) will be produced, despite frequent, unproductive visits to the litter box. However where a cat's urination pattern can not be observed accurately (for example he voids outside or uses non-clumping litter), the position will not be clear.
A vet will often distinguish between obstructive and non-obstructive cases by checking the cat's bladder.[4][9] A normal, healthy bladder will be semi-full of urine and soft to the touch, like a partially filled balloon. However an inflamed bladder (suggestive of cystitis) will have thickened walls and if the bladder is small (ie empty), it further indicates the cat cannot tolerate holding urine as it is irritating the inflamed bladder walls and therefore the cat seeks to void frequently to keep the bladder empty. Provided the cat is able to do this to obtain relief from the pain of urinary contact, it suggests non-obstructive cystitis. However, if the bladder is distended (ie full of urine) then it is clear that the cat is either unwilling (eg due to pain of excretion) or unable (eg due to blockage) to void. To determine if it is the latter (ie a medical emergency) the vet will try palpating the bladder to see if it empties without difficulty. If the bladder cannot be easily manually expressed (ie emptied) like this to produce a free-flowing, continuous stream of urine, a potential obstruction will be suspected and further diagnostics (urinalysis, ultrasound and x-rays[12]) will usually be undertaken to investigate the cause of the obstruction. It should be said however that even an inability to express a distended bladder is not definitive for blockage as the cat may simply “push back” when palpation is attempted (ie he actively resists the vet's intervention due to anxiety or because, even though he is physically able to void, passing urine is causing intolerable pain and so he resists it). If the cat is known to be anxious and therefore possibly unco-operative in this way, gabapentin may be prescribed in advance of the examination to relieve this anxiety, as well as providing pain relief.
A less frequently seen intermediate case is where the bladder presents as normal (ie partially full) but is accompanied by straining and a desire on the part of the cat to empty. Ordinarily in the case of non-obstructive FIC, the straining would be productive, causing the cat to void repeatedly (producing small amounts of the urine each time), to ensure the bladder remains empty (ie it will present as "small" on physical examination). However the fact that the cat continues to strain in an attempt to void, but the bladder still contains some urine (ie it is not small but it is not distended either), could suggest a possible intermittent spasming of the urethra (ie an "on-off" § functional block) which allows voiding at times when the cat is able to relax himself, but prevents it when the urethral muscles tense involuntarily again. The vet will as usual attempt to manually express the bladder but if this does not produce a stream of urine by a (co-operative) cat, then another possible line of investigation will be to sedate the cat which will relax the entire urinary musculature. The cat should then urinate spontaneously as the sedative causes him to lose control of his urinary muscles, forcing them to relax so that urine can no longer be retained in the bladder. If he does urinate in this manner (and assuming his “normal”-sized bladder could not be easily expressed before sedation and the cat had also shown earlier signs of unproductive straining), then an intermittent functional block may be suspected.
If after suitable investigations, the episode is ultimately shown to be non-obstructive, analgesia and anti-inflammatory medication is usually prescribed to reduce discomfort and bring symptoms under control (see further discussion on treatment of non-obstructive episodes below). However if obstruction is confirmed, then catheterisation is usually the preferred treatment to relieve the blockage (see discussion of treatment of obstructive FIC below).
## Pathophysiology[edit]
Feline idiopathic cystitis is above all an inflammatory process. Whilst the specific cause is unknown, it appears to be associated with complex interactions among the nervous system, adrenal glands, and urinary bladder.[12] Environment also appears to play a role in the pathophysiology and, in some cases, is associated with clinical signs related to the gastrointestinal, cardiovascular, respiratory, nervous, integumentary, and immune systems.[12]
## Non-obstructive episodes of FIC[edit]
Flare-ups of FIC generally begin as non-obstructive incidents involving acute inflammation of the lower urinary tract but where the cat is still able to urinate. The majority of cases (85%) remain non-obstructive without escalation into blockage and usually resolve themselves within 7 days with or without treatment.
### Causes[edit]
The direct cause of feline idiopathic cystitis is unknown. It is a diagnosis of exclusion which means other possible urinary diseases which could cause bladder inflammation (e.g. feline urinary tract infections or urolithiasis) are ruled out.[5] Research is still being pursued regarding the causes of cystitis in cats, though the following principal risk factors have been identified.[13]
* Cats predisposed to anxiety or who have a low tolerance to stressors are particularly vulnerable since stress is now considered to be a key factor in triggering acute attacks of FIC.[14] This includes:
* Stress from house moving[15] or other changes of routine
* Stress from having conflicts with other cats[16] or other pets in the house
* Stress from boredom or inactivity, particularly from being kept strictly indoors[13]
* Cats who are neutered or spayed too early
* Cats who are younger/middle-aged (ie those less than 10 years old)
* Cats fed a dry food diet (including prescription dry food) whose levels of hydration are far lower compared to cats eating wet food (this comparison takes into account moisture from all sources ie food intake and drinking water).[17][18]
* Increased body weight[19]
### Treatment of an acute episode[edit]
First and foremost, the cat must be kept well hydrated with wet food/soups/broth/increased water intake. This keeps the urine dilute, reducing pain and inflammation, as well as encouraging urination to keep the bladder clear of debris thereby reducing the risk of a § mechanical blockage (dry food must therefore be avoided).[20] Since the underlying process is inflammation of the bladder, one of the most frequent pharmacological treatments is to administer anti-inflammatory medication. NSAIDs such as meloxicam or robenacoxib are commonly prescribed to control this (provided there are no renal or gastric contraindications).[21] The condition is intensely painful and analgesia (via NSAID or opiates such as buprenorphine) is essential to reduce discomfort and control further stress (which could in turn trigger further inflammation). In the case of a male cat, spasmolytics such as prazosin in combination with dantrolene may also be prescribed to control painful urethral spasms and prevent the risk of a § functional blockage.[21]
Since stress is considered to be a key aggravator in triggering cases of FIC, the most important non-pharmacological/non-dietary intervention is to modify the cat's environment to minimise stressors and improve general well-being (see § environmental modification below). In addition, calming supplements such as tryptophan or alpha-casozepine can also be added to food to improve mood and relaxation.[21][22]
Oral supplements to reinstate the protective glycosaminoglycan (GAG) layer of the bladder (often deficient in cats suffering from FIC) may also be considered. Supplementation with antioxidants and essential fatty acids such as high quality fish oil have also been shown to reduce the severity of the episode.[23] The veterinarian may also use a urine sample from the cat to carry out urinalysis to test for the § presence of crystals which could aggravate the condition (see below).[24]
Within a week most cats should improve spontaneously as the inflammation subsides. However, it is essential to monitor urine output (and compare it to moisture intake) throughout the day, every day, to watch for incipient signs of blocking until the inflammation subsides and the cat returns to good health. Any presumed non-obstructive case which does not resolve itself with 7 days should be suspect for obstruction and investigated further.
## Obstructive episodes of FIC (“the blocked cat”)[edit]
### Causes[edit]
Obstructive episodes occur in the rarer instances (approximately 15% of FIC cases) when the initial, § non-obstructive attack (see above) is not self-limiting and escalates into partial or full block of the urethra so that voiding of urine is impeded or altogether impossible. Obstruction occurs almost exclusively in male cats due to their long, narrow urethra. There are two reasons why a cat may obstruct ("block"):
#### Functional blockage[edit]
The block can be functional. This occurs when a severe muscle spasm of the urethra occurs to close it shut and the cat is unable to relax himself again to regain normal function. It is intensely painful and is triggered by the underlying inflammation, itself suspected to be caused by the stress of the condition. Effectively the cat involuntarily "blocks himself".[25]
#### Mechanical blockage[edit]
A mechanical block occurs when actual physical particles obstruct the urethra. A urethral plug forms from bladder "sediment" (or "debris") which is composed of material generated from the underlying bladder inflammation (ie red blood cells, white blood cells, mucus from the bladder lining, protein) which instead of being excreted naturally, collect to form a soft toothpaste-like material called "matrix" which blocks the urethra. Matrix on its own can form a urethral plug (in which case it is called a "mucus plug") but if § crystals are present in the bladder (see below), they can coalesce with soft matrix to form a hardened urethral plug. The most common type of urethral plug (over 80%) are of this latter type ie struvite-crystalline plugs.
#### Interaction between functional and mechanical blockage in FIC[edit]
Both functional and mechanical blocks can negatively interact to fully obstruct the cat rapidly. In a multifactorial example, the underlying inflammation can narrow the urethral opening as well as provoking spasming to cause the walls of the urethra to close shut around a urethral plug forming in it.
#### The role of crystals in obstructive FIC[edit]
Crystalluria is the presence of microscopic crystals in feline urine. These are most often struvite precipitates but other minerals such as calcium oxalate crystals are also found, albeit less frequently. Urinary crystals are not necessarily an abnormal finding and can be seen both in cats who are healthy and those who are suffering from a urinary tract illness. Provided they are processed efficiently by the feline urinary system, they are unremarkable. As struvite crystals tend to form in concentrated, alkaline urine, they are unlikely to accumulate to a problematic degree in the healthy, well hydrated cat which is fed a high quality meat or fish diet. This is because:
* the high moisture intake will keep urine dilute, causing crystals to dissolve, as well encouraging frequent urination to keep the bladder clear of any crystalline build-up and;
* a high quality animal protein diet should of itself naturally keep the urine mildly acidic (ideally a pH of around 6.5) which again encourages struvite dissolution (note that if excessive acidity develops for any reason, it could lead to formation of calcium oxalate crystals).
In cases of FIC however, the affected cat is not healthy. He is unwell and his urinary system is not functioning properly, and therefore he may struggle to clear crystals from the bladder as a result of the syndrome. The inflammation, particularly in a full or partial obstructive episode, may encourage urinary retention and incomplete voiding. This causes the urine to continually collect in the bladder and become concentrated (as it becomes stagnant) and concentrated urine encourages crystal formation. Lack of hydration and a dry food diet exacerbates this process. Large amounts of struvite crystals can also aggravate the discomfort of an FIC attack. Due to their sharp edges, they can chafe an already inflamed bladder lining causing more pain and increased bleeding. And whilst crystals (as opposed to uroliths) do not alone cause a urethral obstruction,[26] they aggravate the risk of it since they are usually one of the components of a urethral plug which is responsible for § mechanical blockage in obstructive episodes (see above).
The nature and extent of crystal formation, together with urine pH, can be ascertained with a urinalysis to determine if there are any areas of possible concern.
### Treatment of an acute episode[edit]
Veterinary attention is essential if urine does not pass at all as the bladder could rupture and there is risk of death within 72 hours. The vet will usually attempt to relieve the blockage with a catheter, to drain the backed-up urine and flush the bladder out of any sediment and/or crystals. This is an invasive, delicate procedure which will require either heavy sedation or general anaesthetic. The cat may then be hospitalised with the catheter in place and hydration administered intravenously to encourage healthy urination and good kidney function for up to 3 days. While the catheter is in place, intravesical instillation (which is also used to treat human interstitial cystitis[27][28][29][30]) may also be administered to repair the compromised bladder lining.[31][32] When the catheter is removed, the cat must be able to show he can urinate with good function before he can be discharged. With this proviso, he can return home and the anti-inflammatory and anti-spasm medication indicated for non-obstructive cases will be prescribed, as well as oral supplements to calm the cat and replenish the protective bladder lining (see above).
Even after the cat is unblocked, the underlying inflammatory syndrome will continue for some days at home (particularly since the catheter itself will have irritated the urethra). Therefore, some of the clinical signs for non-obstructive FIC may still be apparent post-discharge until the inflammation subsides and cat has fully recovered (e.g. frequent voiding, blood in urine, possible leaking due to tenderness). However medication should alleviate the severity and discomfort as well as assisting recovery. The owner must focus above all on good hydration (from a wet food diet only) and frequent urination to keep the bladder clear. Wet prescription diets may be recommended but if the cat refuses this (cats often avoid eating unfamiliar food when stressed[33]), any high quality, high moisture, high animal protein wet food which the cat finds appealing may be administered. A urinary acidifier (e.g. DL-Methionine or Vitamin C) may be added to the latter to prevent struvite crystal formation but as animal protein is already acidic, it is not strictly necessary. In any case, excessive acidification should be balanced against the risk that it could irritate the inflamed bladder wall (possibly triggering recrudescence ie a further acute attack), as well as encouraging calcium oxalate crystal formation. An acidifier should never be added to prescription urinary food as this has already been acidified. Acidification or prescription foods are always secondary to the first priority of overall, general hydration from any wet food the cat finds palatable. Dry food of any sort (including prescription dry food) must be avoided.
Environmental modification to reduce stress, itself suspected to be one of the principal causes of FIC, must also be considered (see below) as the risk of re-blocking is highest within the first week after catheterisation.
### Secondary bacterial infection (UTI) after an obstructive episode[edit]
Whereas primary feline urinary tract infections are very rare in younger male cats, when a cat suffers an obstructive episode of FIC which has involved catheterisation and/or the symptomatic presence of crystals, then a secondary urinary tract infection becomes more likely as a follow-on complication.[34] The symptoms of bacterial infection in the lower urinary tract are very similar to those for non-obstructive FIC (ie straining, blood in urine etc) and a urine test with cultures will be needed to detect if an infection is present. Treatment is usually effective with antibiotics once the result of the urine culture identifies the precise bacteria involved in the infection. D-mannose is also used by some pet owners as a natural alternative to antibiotic treatment although this may be less targeted and specific than prescribed antibiotics following a urine culture.
## Ongoing management of FIC[edit]
Since feline idiopathic cystitis is commonly known to reoccur, ongoing precautions need to be taken to avoid relapse.
### Importance of hydration[edit]
The most important preventative measure is to improve the overall moisture intake with any high quality wet food which is found to be palatable by the cat.[5] Good hydration is essential for good urinary tract health. It militates against inflammation and dilutes the urine which causes less pain should it come into contact with an irritated bladder wall during an acute attack of FIC. In addition the well hydrated cat is unlikely to degenerate into full blockage, as he will produce large amounts of urine which will flush out any bladder sediment and/or crystals before it can accumulate. Crystals in any case are unlikely to form to a problematic degree in the dilute, mildly acidic urine produced by a cat eating a quality wet, animal protein diet. Wet prescription cat food which has been specially acidified may be also recommended to reduce the likelihood of struvite crystal formation which can be problematic if allowed to accumulate in significant quantities. However it is not essential in the absence of urolithiasis[21] and is very much secondary to the first priority of general hydration.
As domestic cats are descended from their desert-inhabiting ancestors, they instinctively seek moisture from their prey. High quality wet food is the most natural way therefore to hydrate a cat as drinking water from a bowl is arguably species-inappropriate since anatomical limitations in the cat's tongue restrict the amount of water they can ingest this way.[35] Drinking still water from a bowl (particularly tap as opposed to rain water) is often a last resort for many cats and some may avoid it altogether. A quality wet food diet will therefore be most effective in ensuring sufficient moisture intake and will always be more effective than dry food in hydrating a cat, even when any additional moisture intake from drinking water is taken into account.[18] Cats at risk of urinary disease must therefore avoid dry food as much as possible.
The nutritional profile of a good quality diet will include a high meat content,[36] high levels of moisture,[37] minimal fillers and minimal carbohydrate content[38] (since cats cannot digest carbohydrates efficiently, this could cause digestive inflammation, thus stressing an already weakened immune system in a cat suffering from FIC).
Supplementing wet food with antioxidants and essential fatty acids such as high quality fish oil have also been shown to reduce the severity and recurrence of FIC episodes.[23]
### Environmental modification[edit]
Together with hydration, improvements to the cat's environment have been shown to prevent relapses.[39] Reducing stress and encouraging natural feline behaviour (particularly for indoor cats) is essential. Suggested methods include:
* No sudden disruption to routine or changes in a cat’s environment. Cats are most comfortable in familiar territory, operating within a predictable schedule. Even a short delay to a cat’s usual feeding times for example has been shown to elevate stress levels.[40]
* Outdoor visits (supervised in the case of indoor cats) will encourage sensory stimulation and defeat boredom which could lead to stress.
* Window sill perches (particularly if they look out onto a natural landscape with wildlife and birds) provide important visual stimulation, particularly for cats who have no outdoor access.[41] Ideally the perches should be affixed to windows which provide good visibility of the surrounding outdoor space (windows on lower floors of a building work better therefore than those on floors which are too high up). Perches should be affixed at a variety of locations to offer diverse vantage points.
* Olfactory enrichment with indoor cat-safe plants (e.g. cat grass, catnip, silver vine or cat thyme)[42] can again replicate a pleasing, natural environment indoors.
* Maintaining close contact with owners and avoiding extended periods of isolation to prevent separation anxiety. This is particularly important for rescued strays or abandoned cats who have since been re-homed in an environment they perceive as safe.
* Play with owners in short bursts de-stresses a cat and stimulates positive neural activity.
* Regular rotation and replacement of cat toys.[43]
* A wet-only feeding pattern which imitates a cat’s natural instinct in the wild (ie little and often). Incorporating mental stimulation can be considered with the use of feeding puzzles and changes to the location of the feeding bowel to stimulate the hunting instinct (dry food must not be included in the diet however).[44] Cats usually enjoy variety in their food but will avoid new foods if anxious or if it reminds them of a stressful episode (eg a visit to the vet). Therefore new foods must be introduced with care and familiar foods always available during a changeover period to allow the cat to make its own choice.[43]
* Cats move vertically as well as horizontally so cat trees and high-level hiding places encourage natural movement.[41]
* Free access to both warm and cooler zones in the home.[43]
* Safe, enclosed, quiet sleeping areas (such as an igloo bed) will allow a cat to retreat to safety if anxious and have been shown to reduce stress.[45]
* Acoustic startlement (e.g. loud noises from washing machines, vacuum cleaners, building work) should be minimised, at least in a period of convalescence, to ensure the cat is not frightened by environmental disturbance.[46] Adverse reactions to sudden loud noises can be mitigated by radio or television playing in the background.[41]
* Litter tray availability and hygiene is essential. Easy, unfettered access to clean litter boxes (with litter than can identify any unusual urinary behaviour such as clumping litter) is essential if the cat cannot void outside (cats voiding outdoors do not show a high incidence of relapse).[43]
* Since antipathy between other cats or pets is also a major source of stress, facial pheromone treatments or spatial separation between unco-operative pets may need to be considered. Such behaviour may not always be obvious and owners need to observe interaction (and minute changes of behaviour) between pets carefully to detect even the smallest signs of discord, for example at sunrise when owners may be asleep but cats are usually awake.
### Surgical intervention for refractory cases[edit]
For recurrent cases of FIC in male cats where blockage is a risk, and dietary and environmental modifications have not prevented relapse, a last line of treatment to prevent future obstruction is surgery to widen the male urethra. This is called Perineal Urethrostomy (PU)[47] but brings with it other risks and should therefore only be considered once all other options have been exhausted.
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Feline idiopathic cystitis
|
c0268696
| 28,206 |
wikipedia
|
https://en.wikipedia.org/wiki/Feline_idiopathic_cystitis
| 2021-01-18T18:45:02 |
{"wikidata": ["Q5441911"]}
|
Poultry meat allergy is a rare food allergy in humans caused by consumption of poultry meat (commonly chicken and turkey) whereby the body triggers an immune reaction and becomes overloaded with immunoglobulin E (IgE) antibodies.[1][2]
It can co-occur with egg allergy but more often occurs without allergy to poultry eggs.[3][4][5] One study found that chicken and turkey meat are the primary cause of allergic reactions, whilst goose, pheasant, and duck meat cause milder reaction or no symptoms.[6]
## Epidemiology[edit]
As it is a rare condition and it is not well documented; epidemiological data is unknown.[7] Severe cases have been documented.[8] A research study in 2016 found only 16 cases of previously published poultry meat allergy, plus an additional 28 cases that were being analyzed in the study.[9]
## Symptoms[edit]
Symptoms are similar to other forms of allergies and occur after ingestion of the allergen. Some symptoms include abdominal cramping, angioedema, generalized urticaria, and chest tightness. [10][11]
## References[edit]
1. ^ "Meat Allergy". 12 January 2015.
2. ^ "Allergy to chicken meat without sensitization to egg proteins" (PDF). www.jacionline.org. 1997.
3. ^ Zacharisen, Michael C. (1 July 2006). "Severe allergy to chicken meat". WMJ. 105 (5): 50–52. PMID 16933414.
4. ^ Hemmer, Wolfgang; Klug, Christoph; Swoboda, Ines (30 November 2018). "Update on the bird-egg syndrome and genuine poultry meat allergy". Allergo Journal International. 25 (3): 68–75. doi:10.1007/s40629-016-0108-2. PMC 4861744. PMID 27340614.
5. ^ "Man's Sudden Food Allergy Was a Medical Mystery for Months". Washingtonpost.com. Retrieved 2018-11-30.
6. ^ Hemmer, W.; Klug, C.; Swoboda, I. (2016). "Update on the bird-egg syndrome and genuine poultry meat allergy". Allergo Journal International. 25 (3): 68–75. doi:10.1007/s40629-016-0108-2. PMC 4861744. PMID 27340614.
7. ^ "Anaphylactic Reactions to Novel Foods" (PDF). pediatrics.aappublications.org. 2017.
8. ^ Zacharisen, M. C. (2006). "Severe allergy to chicken meat". WMJ. 105 (5): 50–2. PMID 16933414.
9. ^ Hemmer, W.; Klug, C.; Swoboda, I. (2016). "Update on the bird-egg syndrome and genuine poultry meat allergy". Allergo Journal International. 25 (3): 68–75. doi:10.1007/s40629-016-0108-2. PMC 4861744. PMID 27340614.
10. ^ Zacharisen, M. C. (2006). "Severe allergy to chicken meat". WMJ. 105 (5): 50–2. PMID 16933414.
11. ^ Hemmer, W.; Klug, C.; Swoboda, I. (2016). "Update on the bird-egg syndrome and genuine poultry meat allergy". Allergo Journal International. 25 (3): 68–75. doi:10.1007/s40629-016-0108-2. PMC 4861744. PMID 27340614.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Poultry allergy
|
None
| 28,207 |
wikipedia
|
https://en.wikipedia.org/wiki/Poultry_allergy
| 2021-01-18T18:51:34 |
{"wikidata": ["Q60756333"]}
|
Innis et al. (1998) described a family with an apparently 'new' autosomal recessive disorder characterized by early-onset sensorineural hearing loss, abnormal retinal pigment epithelium granularity, accumulation of creamy-white lesions at the level of the retinal pigment epithelium, particularly superior to the arcade of retinal vessels, and brown discoloration of molars or canine deciduous teeth. Two brothers and a sister in a sibship of 4 were affected.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SENSORINEURAL HEARING LOSS, RETINAL PIGMENT EPITHELIUM LESIONS, DISCOLORED TEETH
|
c1865645
| 28,208 |
omim
|
https://www.omim.org/entry/602340
| 2019-09-22T16:13:51 |
{"mesh": ["C566560"], "omim": ["602340"]}
|
Histopathology of cystitis cystica.
Cystitis cystica is a rare chronic reactive inflammatory disorder thought to be caused by chronic irritation of the urothelium because of infection, calculi, outlet obstruction, or tumor resulting in multiple small filling defects in the bladder wall.[1]
## References[edit]
1. ^ Originally copied from: Potts, Stephanie; Calleary, John (2017). "Cystitis Cystica as a Large Solitary Bladder Cyst". Journal of Endourology Case Reports. 3 (1): 34–38. doi:10.1089/cren.2017.0010. ISSN 2379-9889.
\- "This Open Access article is distributed under the terms of the Creative Commons License (http://creativecommons.org/licenses/by/4.0)"
This article about a disease, disorder, or medical condition is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cystitis cystica
|
c0152262
| 28,209 |
wikipedia
|
https://en.wikipedia.org/wiki/Cystitis_cystica
| 2021-01-18T19:04:11 |
{"umls": ["C0152262"], "icd-10": ["N30.8"], "wikidata": ["Q2500950"]}
|
Congenital insensitivity to pain is a condition, present from birth, that inhibits the ability to perceive physical pain. Affected individuals are unable to feel pain in any part of their body. Over time, this lack of pain awareness can lead to an accumulation of injuries and health issues that may affect life expectancy. Congenital insensitivity to pain is caused by mutations in the SCN9A gene and, in rare cases, is caused by mutations in the PMRD12 gene. It is inherited in an autosomal recessive pattern.
Congenital insensitivity to pain is considered a form of peripheral neuropathy because it affects the peripheral nervous system, which connects the brain and spinal cord to muscles and to cells that detect sensations such as touch, smell, and pain. It is part of a group known as hereditary sensory and autonomic neuropathies.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Congenital insensitivity to pain
|
c0002768
| 28,210 |
gard
|
https://rarediseases.info.nih.gov/diseases/12267/congenital-insensitivity-to-pain
| 2021-01-18T18:01:08 |
{"mesh": ["D000699"], "omim": ["243000"], "orphanet": ["88642"], "synonyms": ["Channelopathy-associated congenital insensitivity to pain", "Channelopathy-associated CIP"]}
|
## Clinical Features
Woods et al. (1995) described a kindred in which 5 males in 3 sibships across 2 generations connected through females died in the neonatal period of severe hypotonia. All 5 males were of low birth weight. In this kindred, the grandmother, 2 of her 3 daughters, and 1 of her granddaughters (who was the mother of the affected male in the most recent generation) had a slowly progressive proximal muscle weakness, brisk reflexes, poor bladder function, static reduced night vision, and IgG2 deficiency. The diagnosis offered in the 3 living symptomatic females was 'hereditary spastic paraplegia plus.' Investigations excluded myotonic dystrophy (DM; 160900), the mitochondrial NARP syndrome (551500), and X-linked hyper-IgM (308230). This entity should be considered in the differential diagnosis of families presenting with severe neonatal hypotonia in males and with complex hereditary spastic paraplegia in females.
Mapping
Using the hypothesis that the condition is an X-linked dominant, Woods et al. (1995) found by haplotype analysis that the disease locus is within Xq26-qter.
GU \- Poor bladder function Growth \- Low birth weight in males Neuro \- Severe neonatal hypotonia in males \- Complex hereditary spastic paraplegia in females \- Brisk reflexes Inheritance \- X-linked dominant Immunology \- IgG2 deficiency Muscle \- Slowly progressive proximal muscle weakness Misc \- Neonatal death in males Eyes \- Static reduced night vision ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
IMMUNONEUROLOGIC DISORDER, X-LINKED
|
c1848144
| 28,211 |
omim
|
https://www.omim.org/entry/300076
| 2019-09-22T16:20:53 |
{"mesh": ["C536743"], "omim": ["300076"], "orphanet": ["2571"], "synonyms": ["Alternative titles", "WOODS-BLACK-NORBURY SYNDROME"]}
|
A number sign (#) is used with this entry because of evidence that Neu-Laxova syndrome-2 (NLS2) is caused by homozygous or compound heterozygous mutation in the PSAT1 gene (610936) on chromosome 9q21.
Description
Neu-Laxova syndrome-2 is a rare autosomal recessive disorder characterized by a recognizable pattern of severe congenital malformations leading to prenatal or early postnatal lethality. Affected patients have abnormal craniofacial features, microcephaly, intrauterine growth retardation, ichthyosis, flexion deformities, limb malformations, and edema of the hands and feet. Some patients have malformations of the central nervous system, such as abnormal gyration (summary by Acuna-Hidalgo et al., 2014).
For a discussion of genetic heterogeneity of Neu-Laxova syndrome, see NLS1 (256520).
Clinical Features
Acuna-Hidalgo et al. (2014) reported 9 patients from 6 unrelated families with Neu-Laxova syndrome-2. Four of the families were consanguineous. Clinical details of the 6 probands were provided. The most common features included craniofacial dysmorphism with microcephaly, sloping forehead, low-set or malformed ears, flat or abnormal nose, micrognathia, and an abnormal round, gaping mouth. More variable features included hypertelorism, proptosis, and absent or abnormal eyelids; 1 fetus had cleft palate. Two affected patients were liveborn, but died within the first 2 weeks of life; the rest were stillborn.
Inheritance
The transmission pattern of NLS2 in the families reported by Acuna-Hidalgo et al. (2014) was consistent with autosomal recessive inheritance.
Molecular Genetics
In affected fetuses and newborns from 6 unrelated families with Neu-Laxova syndrome-2, Acuna-Hidalgo et al. (2014) identified homozygous or compound heterozygous mutations in the PSAT1 gene (610936.0003-610936.0005). The mutations, which were found by homozygosity mapping combined with detailed exome sequencing, were confirmed by Sanger sequencing. The mutations segregated with the disorder in all families with available material; functional studies were not performed. Acuna-Hidalgo et al. (2014) noted that some features of the phenotype overlapped with, but were more severe than, those reported in patients with PSAT deficiency, suggesting that the prenatal lethality of NLS2 represents the more severe end of a phenotypic spectrum. The findings emphasized the critical importance of serine availability in early embryonic and fetal development.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation (IUGR) HEAD & NECK Head \- Microcephaly Face \- Sloping forehead \- Micrognathia Ears \- Low-set ears \- Malformed ears Eyes \- Hypertelorism \- Absent or abnormal eyelids Nose \- Flat nose \- Abnormal nose Mouth \- Abnormal mouth \- Round, gaping mouth \- High-arched palate \- Cleft palate Neck \- Short neck SKELETAL Spine \- Scoliosis Limbs \- Deformed limbs Hands \- Deformed digits \- Swollen hands Feet \- Deformed digits \- Rocker-bottom feet \- Swollen feet SKIN, NAILS, & HAIR Skin \- Ichthyosis \- Taunt skin MUSCLE, SOFT TISSUES \- Subcutaneous edema NEUROLOGIC Central Nervous System \- Decreased or absent gyri (in some patients) PRENATAL MANIFESTATIONS Movement \- Decreased fetal movements MISCELLANEOUS \- Onset in utero \- Usually death in utero or rarely in neonatal period MOLECULAR BASIS \- Caused by mutation in the phosphoserine aminotransferase 1 gene (PSAT1, 610936.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
NEU-LAXOVA SYNDROME 2
|
c0265218
| 28,212 |
omim
|
https://www.omim.org/entry/616038
| 2019-09-22T15:50:13 |
{"doid": ["0080075"], "mesh": ["C536405"], "omim": ["616038"], "orphanet": ["2671"]}
|
## Clinical Features
Hefter and Ganz (1969) described a woman and 3 of her 4 children with atresia of the external auditory canal and conductive deafness. The bony stenosis of the external meatus was so marked that the eardrums were not visible. The mastoid processes were found to be poorly pneumatized on radiography. At surgery the middle ear structures were found to be in various stages of hypoplasia or aplasia.
Robinow and Jahrsdoerfer (1979) observed an extensively affected kindred with 12 affected members over 5 generations. There were several instances of male-to-male transmission. Stenosis rather than atresia of the auditory canal was present in some. There were no associated anomalies.
Inheritance
The transmission pattern of the disorder in the families reported by Hefter and Ganz (1969) and Robinow and Jahrsdoerfer (1979) was consistent with autosomal dominant inheritance.
Radiology \- Mastoid processes poorly pneumatized Inheritance \- Autosomal dominant Ears \- Conductive hearing loss \- External auditory canal stenosis/atresia \- Hypoplastic/aplastic middle ear structures ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ATRESIA OF EXTERNAL AUDITORY CANAL AND CONDUCTIVE DEAFNESS
|
c3276095
| 28,213 |
omim
|
https://www.omim.org/entry/108760
| 2019-09-22T16:44:39 |
{"omim": ["108760"], "icd-10": ["Q16.1"], "orphanet": ["141074"], "synonyms": ["External auditory canal stenosis/atresia"]}
|
## Summary
### Clinical characteristics.
ARID1B-related disorder (ARID1B-RD) constitutes a clinical continuum, from classic Coffin-Siris syndrome to intellectual disability with or without nonspecific dysmorphic features. Coffin-Siris syndrome is classically characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, distinctive facial features, hypotonia, hypertrichosis, and sparse scalp hair. Frequencies of other features, such as developmental delay (with speech often more affected than motor development), is consistent across the clinical spectrum, and may include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Other findings seen in individuals with ARID1B-RD include feeding difficulties, slow growth, ophthalmologic abnormalities, hearing impairment, seizures, attention-deficit/hyperactivity disorder, and autistic features.
### Diagnosis/testing.
The diagnosis of ARID1B-RD is established by identification of a heterozygous pathogenic variant in ARID1B by molecular genetic testing.
### Management.
Treatment of manifestations: Standard treatment for strabismus, refractive error, hearing loss, congenital heart defects, obstructive sleep apnea, constipation, gastroesophageal reflux, cryptorchidism, scoliosis, and seizure disorders. For significant feeding issues, a nasogastric and/or gastrostomy tube may be required. Developmental therapies, including speech/language and feeding therapy, is recommended for those with developmental delay.
Surveillance: At least annual assessment of developmental progress and educational needs; annual ophthalmology evaluation and assessment for scoliosis (until growth is complete). Audiology evaluation, behavior assessment, and hormonal evaluation/bone age as needed based on symptoms. Those with seizures should be monitored as clinically indicated.
### Genetic counseling.
ARID1B-related disorder is inherited in an autosomal dominant fashion. With the exception of two families in which a parent and child had features consistent with ARID1B-related disorder, all individuals diagnosed to date have the disorder as the result of a de novo pathogenic variant. Once the ARID1B pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.
## Diagnosis
Heterozygous pathogenic variants in ARID1B lead to a phenotypic spectrum, from Coffin-Siris syndrome (CSS) (with dysmorphic features and/or organ system involvement) to intellectual disability with or without nonspecific dysmorphic features. See Coffin-Siris Syndrome for more information.
Note: The information presented in the Coffin-Siris syndrome GeneReviews chapter includes information on individuals with CSS from a variety of genetic causes including ARID1B but is not specific to individuals with a pathogenic variant in ARID1B.
### Suggestive Findings
ARID1B Coffin-Siris syndrome (ARID1B-CSS) should be suspected in individuals with the following findings [Fleck et al 2001, Schrier et al 2012, Kosho et al 2014, Santen et al 2014]:
* Fifth-digit nail and/or distal phalanx hypoplasia (although other digits may be affected) OR aplasia of the hands or feet
* Developmental or cognitive delay of variable degree
* Typical facial features including a wide mouth with thick, everted vermilion of the upper and lower lips, broad nasal bridge with broad nasal tip, thick eyebrows, and long eyelashes
* Central hypotonia
* Hypertrichosis in atypical areas (e.g., the back) or excessive hair growth on the arms or face
* Sparse scalp hair, especially in infancy, particularly in the temporal regions
Though admittedly a large group, ARID1B intellectual disability with or without nonspecific dysmorphic features (ARID1B-ID) should be considered in individuals presenting with the following clinical findings:
* Mild-to-profound developmental delay (DD) and/or intellectual disability (ID)
AND
* Any of the following features presenting in infancy or childhood:
* Generalized hypotonia of infancy
* Infant feeding difficulties
* Spasticity
* Epilepsy (predominately tonic-clonic)
* Behavior problems, such as attention-deficit/hyperactivity disorder (ADHD) and autistic features
* Cryptorchidism
* Laryngomalacia
* Myopia
* Delayed speech development
* Suggestive dysmorphic features (see Clinical Description)
### Establishing the Diagnosis
The diagnosis of an ARID1B-related disorder is established in a proband with suggestive clinical features by identification of a heterozygous pathogenic variant in ARID1B by molecular genetic testing (see Table 1).
Molecular genetic testing approaches can include a combination of gene-targeted testing (single-gene testing or multigene panel) and comprehensive genomic testing (chromosomal microarray analysis and exome sequencing) depending on the phenotype.
#### Classic ARID1B Coffin-Siris Syndrome
When the phenotypic findings suggest the diagnosis of ARID1B-CSS, molecular genetic testing approaches can include single-gene testing or use of a multigene panel:
* Single-gene testing. Sequence analysis of ARID1B detects small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. Perform sequence analysis first. If no pathogenic variant is found, perform gene-targeted deletion/duplication analysis to detect intragenic or whole-gene deletions or duplications.
* A Coffin-Siris syndrome multigene panel that includes ARID1A, ARID1B, ARID2, DPF2, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCE1, SOX11, and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
#### ARID1B Intellectual Disability with or without Nonspecific Dysmorphic Features
Molecular genetic testing in a child with developmental delay or an older individual with intellectual disability typically begins with chromosomal microarray analysis (CMA). If CMA is not diagnostic, the next step is typically either a multigene panel or exome sequencing:
* Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP (single-nucleotide polymorphism) arrays to detect genome-wide large deletions/duplications (including ARID1B) that may not be detected by sequence analysis.
* An intellectual disability multigene panel that includes ARID1B and other genes of interest (see Differential Diagnosis) is most likely to identify the genetic cause of the condition in a person with a non-diagnostic CMA at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. For this disorder an intellectual disability multigene panel that also includes deletion/duplication analysis is recommended (see Table 1).
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
* Exome sequencing, which does not require the clinician to determine which gene is likely involved, yields results similar to an ID multigene panel but has two advantages: (1) a multigene panel may not include all rare genes recently identified as causing ID; and (2) exome sequencing may be able to detect pathogenic variants in genes which – for technical reasons – do not sequence well.
For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.
### Table 1.
Molecular Genetic Testing Used in ARID1B-Related Disorder
View in own window
Gene 1PhenotypeMethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
ARID1BCoffin-Siris syndromeSequence analysis 371/80 4
Gene-targeted deletion/duplication analysis 59/80 6
ARID1B intellectual disabilitySequence analysis 354/63 7, 8
CMA 99/63 7
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on allelic variants detected in this gene.
3\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
4\.
van der Sluijs et al [2019]
5\.
Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.
6\.
Microdeletions of chromosome 6q25.3 that include ARID1B have been reported in: (a) children with CSS ascertained prior to the understanding of the molecular basis of CSS [Tsurusaki et al 2012]; (b) children ascertained with a microdeletion containing ARID1B and secondarily noted to have features similar to CSS [Santen et al 2012]; and (c) individuals with mildly or variably syndromic intellectual disability [Nagamani et al 2009, Halgren et al 2012, Hoyer et al 2012, Michelson et al 2012] for whom available clinical information is insufficient to determine the similarity to CSS. Of note, these individuals may have complex clinical findings due to the involvement of additional genes surrounding the ARID1B locus.
7\.
Santen et al [2013]
8\.
Although the Santen et al [2013] study included sequence analysis results of individuals with clinical features of Coffin-Siris syndrome, it is the only study where all affected individuals underwent both MLPA and sequencing analysis, and therefore likely reflects the mutational spectrum best.
9\.
Chromosomal microarray analysis (CMA) uses oligonucleotide or SNP arrays to detect genome-wide large deletions/duplications (including ARID1B) that cannot be detected by sequence analysis. The ability to determine the size of the deletion/duplication depends on the type of microarray used and the density of probes in the 6q25.3 region. CMA designs in current clinical use target the 6q25.3 region.
## Clinical Characteristics
### Clinical Description
Most individuals with a heterozygous pathogenic variant in ARID1B have some features consistent with Coffin-Siris syndrome.
Note: (1) The Coffin-Siris syndrome GeneReviews chapter includes information on individuals with CSS from a variety of genetic causes including ARID1B but is not specific to individuals with a pathogenic variant in ARID1B. (2) Approximately 1/2 to 2/3 of individuals with molecularly confirmed CSS have a pathogenic variant in ARID1B [van der Sluijs et al 2019]. More data are needed to determine which CSS features are found more or less frequently in individuals with a pathogenic variant in ARID1B.
To date, approximately 100 individuals who do not have the classic Coffin-Siris syndrome phenotype have been identified with a heterozygous pathogenic variant in ARID1B [Santen et al 2013, Santen et al 2014, Ben-Salem et al 2016, Mannino et al 2018, van der Sluijs et al 2019].
A comparison between individuals with a heterozygous pathogenic variant in ARID1B with an a priori clinical diagnosis of CSS and a group without the a priori clinical diagnosis suggests that apart from CSS-specific features (hypo/aplasia of the fifth digits or nails of the hands/feet, sparse scalp hair, coarse facial features, hypertrichosis) there are no major differences between the two groups [van der Sluijs et al 2019]. Therefore, the Authors treat them as a single entity, ARID1B-related disorder (ARID1B-RD).
Developmental delay (DD) and intellectual disability (ID). Intellectual disability ranges from profound to very mild, and intelligence quotients (IQs) in the normal range have been identified in some individuals with ARID1B-RD. Most affected individuals have developmental delay, with speech often more affected than motor development. An estimated 25% of affected individuals do not develop verbal language skills [van der Sluijs et al 2019].
Neurologic/epilepsy
* Hypotonia is a frequent finding (40%-80% of affected individuals).
* Epilepsy. Approximately one third of individuals with ARID1B-RD have experienced seizures, predominately of the tonic-clonic type. Additional individuals may have abnormal EEGs without apparent clinical seizure activity. Those with overt seizures appear to respond well to standard antiepileptic drugs. The age of onset of seizures ranges from birth to mid-teenage years [van der Sluijs et al 2019].
Behavior problems. Individuals with ARID1B-RD appear to be at increased risk for a diagnosis of ADHD or autism, but the overall prevalence is not known, as many individuals now receiving the diagnosis at a younger age may not yet be old enough to evaluate for certain neurodevelopmental abnormalities. There does not appear to be an increased prevalence of self-harm, aggression, or sleep disturbances. Some behavior abnormalities may be exacerbated by an individual's degree of speech delay and difficulty with communication.
Growth. There are limited data regarding prenatal growth in individuals with ARID1B-RD. Postnatal growth data show the following:
* Weight may be normal or below average but appears to be in proportion to other growth parameters.
* The majority of affected individuals appear to have a length/height 0 to 2 SD below the mean; data are not sufficient to predict final adult height.
Bone age appears to be delayed in approximately 50% of individuals who have been evaluated.
* Head circumference is normal in a majority of individuals with ARID1B-RD.
Gastrointestinal problems. Feeding difficulties are common and appear to approximate those seen in individuals with a diagnosis of CSS from a variety of genetic causes.
* Individuals with feeding difficulties commencing around the time of birth appear to have more severe issues and tend to require a feeding tube of some type (nasogastric or gastrostomy tube).
* In older children, milder feeding difficulties may occur, including oral aversion, particularly in those who required tube feeding as an infant or younger child.
* Constipation and gastroesophageal reflux disease are also common and may approximate that seen in individuals with CSS or other genetic syndromes with varying degrees of neurologic impairment [Mannino et al 2018].
Sensory impairment
* Approximately 25%-30% of affected individuals have some vision abnormality, although this frequency may not be significantly different from that of individuals with CSS from a variety of genetic causes [Mannino et al 2018]. The most frequently reported abnormalities include myopia, strabismus, and astigmatism.
* Similarly, 25%-40% of affected individuals have some degree of hearing loss, the most common being congenital sensorineural hearing loss, although conductive hearing loss has also been reported [Mannino et al 2018, van der Sluijs et al 2019]. The range of severity of sensorineural hearing loss is not precisely known.
Neuroimaging. Of those individuals who have undergone brain imaging, approximately 30%-40% demonstrate brain anomalies. The most common abnormality is hypo- or aplasia of the corpus callosum [van der Sluijs et al 2019]. Delayed myelination or other white matter changes, colpocephaly, mega cisterna magna, and enlarged Virchow-Robin spaces are also seen. Additional brain abnormalities may be detected as more individuals undergo imaging.
Other associated features
* Respiratory abnormalities. Laryngomalacia has been documented, although it does not appear to occur more frequently than in individuals with CSS due to a variety of genetic causes [Mannino et al 2018, van der Sluijs et al 2019]. Asthma and obstructive sleep apnea have also been reported but may approximate the frequency of the general population.
* Genitourinary (GU) abnormalities. The most commonly reported GU abnormality appears to be cryptorchidism in males; structural renal abnormalities have been seen but the frequency of specific malformations is not known.
* Musculoskeletal. Scoliosis is seen with greater frequency than in the general population and may be acquired as affected individuals age. Shortened fifth digits or hypoplastic nails in the hands or feet may also be seen, as these are classically associated with CSS.
* Dysmorphic features. Affected individuals may have some features also seen in individuals with CSS from a variety of genetic causes, including sparse scalp hair, long eyelashes, hypertrichosis, and coarse facial features; more specifically, individuals may have thick alae nasi, a long philtrum, and a thick vermilion of the lower lip.
Prognosis. It is unknown if life span in individuals with ARID1B-RD is abnormal. One reported individual is alive at age 51 years [Santen, personal observation], and a woman age 60 years has also been reported [Määttänen et al 2018], demonstrating that survival into adulthood is possible. Since many adults with disabilities have not undergone advanced genetic testing, it is likely that adults with this condition are underrecognized and underreported.
### Genotype-Phenotype Correlations
To date, only loss-of-function variants (e.g., nonsense, splice site, frameshift, whole-gene deletions) cause ARID1B-RD. Missense variants do not appear to be pathogenic in general; however, a single missense variant in a proband (who had agenesis of the corpus callosum [ACC]) and the proband's mother (who did not have ACC but had mild ID) was described as de novo in the mother [Mignot et al 2016].
There do not appear to be specific genotype-phenotype correlations among individuals with ARID1B-related disorder to distinguish individuals with ARID1B intellectual disability with or without nonspecific dysmorphic features (ARID1B-ID) from those with ARID1B Coffin-Siris syndrome (ARID1B-CSS).
### Prevalence
This condition is estimated to occur in approximately 1:10,000 to 1:100,000 individuals [Hoyer et al 2012].
## Differential Diagnosis
### ARID1B Coffin Siris Syndrome (ARID1B-CSS)
### Table 2.
Other Disorders to Consider in the Differential Diagnosis of ARID1B Coffin-Siris Syndrome (CSS)
View in own window
Differential Diagnosis DisorderGene(s) /
Genetic MechanismMOIClinical Features of Differential Diagnosis Disorder
Overlapping w/ARID1B-CSSDistinguishing from ARID1B-CSS
Coffin-Siris syndrome caused by genes other than ARID1BARID1A
DPF2
SMARCC2
SMARCA4
SMARCB1
SMARCE1
SOX11ADFrequently clinically indistinguishable from ARID1B-CSSMicrocephaly seen more frequently in individuals w/a heterozygous pathogenic variant in SMARCB1 or SMARCE1
Nicolaides-Baraitser syndromeSMARCA2AD
* Characteristic coarse facial features
* Sparse scalp hair
* ID
* Prominence of interphalangeal joints & distal phalanges due to ↓ subcutaneous fat
* Absence of 5th-digit nail / distal phalanx hypo/aplasia
Borjeson-Forssman-Lehmann syndrome
(OMIM 301900)PHF6XLAffected females demonstrate some phenotypic overlap w/CSS, incl hypoplastic nails & fingers, sparse hair, & intellectual disability. 1, 2
* Other digital anomalies incl tapering of digits, hammer toes, syndactyly of toes
* Distinct facial gestalt incl prominent supraorbital ridges, deeply set eyes, prominent nasal bridge, short nose w/bulbous nasal tip
ARID2-ID
(OMIM 617808)ARID2AD
* Hypotonia
* Behavior anomalies
* Very mild hypoplasia of 5th fingernails & hypoplasia of 5th toenails in some individuals
* Facies: coarse features, flat nasal bridge, slightly broad nose, prominent philtrum, & large mouth w/thick lower vermilion 3
* ID
Birth defects not common
DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, & seizures) syndrome
(see TBC1D24-Related Disorders)TBC1D24AR
* Hypoplastic terminal phalanges &/or nail anomalies
* Deafness
* Neurologic abnormalities
* ID
* Osteodystrophy
* Profound hearing loss (can occasionally occur in ARID1B-CSS)
Mabry syndrome
(OMIM 239300)PIGVAR
* Delayed development & ID
* Seizures
* Coarse facial features
* Hypoplastic 5th digits
↑ serum concentrations of alkaline phosphatase
Cornelia de Lange syndromeHDAC8
NIPBL
RAD21
SMC1A
SMC3AD,
XL
* Limb anomalies may incl 5th-finger hypoplasia.
* ID
* Other findings may incl cardiac defects, gastrointestinal anomalies, & genitourinary malformations.
Distinctive craniofacial features (arched eyebrows, synophrys, upturned nose, small teeth, & microcephaly)
4q21 deletion syndrome
(OMIM 613509)Contiguous-gene deletionAD 1
* Curved, volar, 5th-digit nail that may resemble a hypoplastic distal phalanx
* ID
* Facial gestalt may incl broad forehead, widely spaced eyes, & frontal bossing.
* Postnatal growth restriction may be severe.
AD = autosomal dominant; AR = autosomal recessive; CSS = Coffin-Siris syndrome; ID = intellectual disability; MOI = mode of inheritance; XL = X-linked
1\.
To date, all reported probands have had the disorder as the result of a de novo deletion.
2\.
Zweier et al [2014]
3\.
While some of these features demonstrate overlap with CSS, an assessment of a larger cohort of individuals with ARID2 pathogenic variants will be needed to determine whether it is clinically similar to or distinct from CSS.
The following genetic and teratogenic disorders may also be considered in the differential diagnosis of ARID1B-CSS:
* Mosaic trisomy 9. An individual with mosaic trisomy 9 had features similar to those of CSS, including facial features (wide, bulbous nose), hirsutism, and hypoplasia of the fifth digits [Kushnick & Adessa 1976].
* Brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome (OMIM 113477) is characterized by short stature, tiny dysplastic nails, short fifth fingers, a wide mouth with broad nose, and mild intellectual deficits [Verloes et al 1993, Elliott & Teebi 2000]. This latter characteristic is most likely to distinguish individuals with BOD syndrome from those with CSS, as the cognitive disability in CSS is nearly always moderate to severe. Inheritance appears to be autosomal dominant.
* Fetal alcohol syndrome (FAS). Small nails, prenatal and postnatal growth retardation, dysmorphic facial features, and cognitive disabilities may be seen in FAS.
* Fetal hydantoin/phenytoin embryopathy. Small nails with hypoplasia of distal phalanges, dysmorphic facial features, digitalized thumbs, low hairline, short or webbed neck, growth retardation, and cognitive disabilities have been described in this syndrome, caused by prenatal exposure to phenytoin.
### ARID1B Intellectual Disability with or without Nonspecific Dysmorphic Features
Because the phenotypic features associated with ARID1B-ID are not sufficiently distinctive to diagnose this condition, all disorders with intellectual disability (ID) without other distinctive findings should be considered in the differential diagnosis. To date more than 180 such disorders with ID have been identified. See OMIM Phenotypic Series: Autosomal dominant ID; Autosomal recessive ID; Nonsyndromic X-linked ID; and Syndromic X-linked ID.
## Management
### Evaluations Following Initial Diagnosis of ARID1B-Related Disorders
To establish the extent of disease and needs in an individual diagnosed with ARID1B-RD, the evaluations summarized in Table 2 (if not performed as part of the evaluation that led to diagnosis) are recommended. Note that some evaluations depend on whether the clinician thinks that the affected individual has ARID1B-CCS or ARID1B-ID.
### Table 3.
Recommended Evaluations Following Initial Diagnosis in Individuals with ARID1B-RD
View in own window
System/ConcernEvaluationComment
EyesOphthalmologic evalAssess for myopia, astigmatism, & strabismus.
ENTAudiologic evalAssess for hearing loss (even if newborn hearing screen is normal).
CardiovascularCardiology eval
* ARID1B-CSS: Echocardiogram to evaluate for structural cardiac defects
* ARID1B-ID: Consider an echocardiogram in infancy. 1, 2
RespiratoryAssess for signs & symptoms of obstructive sleep apnea.If present, consider ENT or sleep clinic evaluation &/or polysomnography.
Gastrointestinal/
FeedingAssess growth parameters.Consider bone age studies or other hormonal assessments if person has short stature ↓ predicted mid-parental height.
Assess feeding & nutritional status.Refer to gastroenterologist or feeding specialist, as needed, for persistent feeding issues.
GenitourinaryAssess males for cryptorchidism.Urologic evaluation if cryptorchidism present
Renal ultrasoundTo evaluate for occult renal malformations
MusculoskeletalClinical assessment for scoliosisConsider referral to orthopedist, if severe.
NeurologicNeurologic evalIncl EEG & brain MRI, if indicated.
Psychiatric/
BehavioralNeuropsychiatric evalScreen persons age >12 mos for behavior concerns incl ADHD &/or traits suggestive of ASD.
Miscellaneous/
OtherConsultation w/clinical geneticist or genetic counselor
Developmental assessmentIncl evaluation of motor, speech/language, general cognitive, & vocational skills.
ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder
1\.
An echocardiogram is recommended for those individuals with ARID1B-CSS. Although cardiac anomalies have not been described in individuals with ARID1B-ID, they can be a component of mild ARID1B-CSS and therefore a cardiology evaluation should be considered [Mannino et al 2018].
2\.
Echocardiogram may not be warranted in older children without obvious cardiovascular signs or symptoms based on exam.
### Treatment of Manifestations
### Table 4.
Treatment of Manifestations in Individuals with ARID1B-RD
View in own window
Manifestation/ConcernTreatmentConsiderations/Other
Abnormal vision &/or strabismusStandard treatment(s) per ophthalmologist
Hearing lossStandard therapy based on the type of hearing loss detectedSee Hereditary Hearing Loss and Deafness Overview.
Congenital heart defectsStandard treatment
Obstructive sleep apneaStandard treatment
Feeding difficultiesNasogastric or gastrostomy tube may be required.Eval by gastroenterologist &/or feeding specialist
Low threshold for clinical feeding eval &/or radiographic swallowing study if clinical signs or symptoms of dysphagia or feeding aversion
Constipation &/or GERDStandard therapy
Cryptorchidism / Renal anomaliesStandard treatment per urologist/nephrologist, as appropriate
ScoliosisBracing or casting as indicated by orthopedist
Seizures 1Standardized treatment w/AEDs by experienced neurologistMany different AEDs may be effective; no one AED has been demonstrated effective specifically for this disorder.
AED = antiepileptic drug; GERD = gastroesophageal reflux disease
1\.
Education of parents regarding common seizure presentations is appropriate. For additional information on non-medical interventions and coping strategies for parents or caregivers of children diagnosed with epilepsy, see Epilepsy & My Child Toolkit.
The following information represents typical management recommendations for individuals with developmental delay / intellectual disability in the United States; standard recommendations may vary from country to country.
#### Developmental Disability / Intellectual Disability Management Issues
Ages 0-3 years. Referral to an early intervention program is recommended for access to occupational, physical, speech, and feeding therapy. In the US, early intervention is a federally funded program available in all states.
Ages 3-5 years. In the US, developmental preschool through the local public school district is recommended. Before placement, an evaluation is made to determine needed services and therapies and an individualized education plan (IEP) is developed. Before entering school, a neuropsychiatric evaluation may be of benefit to identify additional barriers to learning and other opportunities for assistance (i.e., identification of ADHD or autism spectrum traits).
Ages 5-21 years
* In the US, an IEP based on the individual's level of function should be developed by the local public school district. Affected children are permitted to remain in the public school district until age 21.
* Discussion about transition plans including financial, vocation/employment, and medical arrangements should begin at age 12 years. Developmental pediatricians can provide assistance with transition to adulthood.
All ages. Consultation with a developmental pediatrician is recommended to ensure the involvement of appropriate community, state, and educational agencies and to support parents in maximizing quality of life.
Consideration of private supportive therapies based on the affected individual's needs is recommended. Specific recommendations regarding type of therapy can be made by a developmental pediatrician.
In the US:
* Developmental Disabilities Administration (DDA) enrollment is recommended. DDA is a public agency that provides services and support to qualified individuals. Eligibility differs by state but is typically determined by diagnosis and/or associated cognitive/adaptive disabilities.
* Families with limited income and resources may also qualify for supplemental security income (SSI) for their child with a disability.
#### Motor Dysfunction
Gross motor dysfunction
* Physical therapy is recommended to maximize mobility.
* Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers/standers or gait trainers, bath chairs, orthotics, adaptive strollers).
Fine motor dysfunction. Occupational therapy is recommended for difficulty with fine motor skills that affect adaptive function such as feeding, grooming, dressing, and writing.
Oral motor dysfunction. If the individual is safe to eat by mouth, feeding therapy, typically from an occupational or speech therapist, is recommended for affected individuals who have difficulty feeding due to poor oral motor control. A swallow study may be necessary prior to initiation of oral feeds to evaluate for aspiration.
Communication issues. Consider evaluation for alternative means of communication (e.g., Augmentative and Alternative Communication [AAC]) for individuals who have expressive language difficulties.
#### Social/Behavioral Difficulties
Children may qualify for and benefit from interventions used in treatment of autism spectrum disorder, including applied behavior analysis (ABA). ABA therapy is targeted to the individual child's behavioral, social, and adaptive strengths and weaknesses and is typically performed one on one with a board-certified behavior analyst.
Consultation with a developmental pediatrician may be helpful in guiding parents through appropriate behavior management strategies or providing prescription medications, such as medication used to treat ADHD, when necessary.
Concerns about serious aggressive or destructive behavior can be addressed by a pediatric psychiatrist.
### Surveillance
### Table 5.
Recommended Surveillance for Individuals with ARID1B-RD
View in own window
System/ConcernEvaluationFrequency
ConstitutionalGrowth parametersAt each visit
EyesOphthalmologic evaluationAnnually
ENTAudiologic evaluationAs required
MusculoskeletalClinical assessment for scoliosisAnnually, until growth is complete
NeurologicMonitor those w/seizures as clinically indicated.As needed
PsychiatricBehavior assessment for anxiety, attention, & aggressive or self-injurious behaviorAs needed
EndocrineHormonal evaluation 1 &/or bone age studiesAs needed
Miscellaneous/OtherMonitor developmental progress & educational needs.Annually
1\.
To assess for poor growth velocity and/or short stature; specific hormonal evaluations depend on the clinical scenario but could include thyroid function tests and evaluation of growth-specific factors (e.g., IGF1 and IGFBP3 levels).
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Therapies Under Investigation
Celen et al [2017] demonstrated potential response to growth hormone in ARID1B-haploinsufficient mice, although there have not been sufficient studies in humans with pathogenic ARID1B variants who are receiving growth hormone clinically to determine if this therapy is of benefit in increasing final adult height and improving muscle tone.
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ARID1B-Related Disorder
|
None
| 28,214 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK541502/
| 2021-01-18T21:45:09 |
{"synonyms": []}
|
This syndrome is characterized by primary hypergonadotropic hypogonadism and partial alopecia.
## Epidemiology
So far, it has been described in seven patients (six females and one male) from three families.
## Clinical description
Müllerian hypoplasia, absent or streak ovaries, hypoplastic internal genitalia and primary amenorrhea were described in the females. The male appeared to have germinal cell aplasia. All patients displayed partial scalp alopecia, and axillary and pubic hair was sparse or absent in the females but normal in the male patient. Additional findings in some of the female patients included sparse eyebrows, microcephaly, flat occiput, dorsal kyphosis and mild intellectual deficit.
## Genetic counseling
Transmission was autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
|
c2931374
| 28,215 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2232
| 2021-01-23T18:00:53 |
{"mesh": ["C536949"], "omim": ["241090"], "umls": ["C2931374"], "icd-10": ["E28.3", "E29.1"], "synonyms": ["Al Awadi-Farag-Teebi syndrome"]}
|
Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Primary progressive aphasia
|
c0282513
| 28,216 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=95432
| 2021-01-23T17:39:54 |
{"gard": ["8541"], "mesh": ["D018888"], "umls": ["C0282513"], "icd-10": ["G31.0"], "synonyms": ["Mesulam syndrome", "PPA"]}
|
A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
TRIM32-related limb-girdle muscular dystrophy R8
|
c0270968
| 28,217 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1878
| 2021-01-23T17:53:31 |
{"gard": ["3844"], "mesh": ["C535897"], "omim": ["254110"], "umls": ["C0270968"], "icd-10": ["G71.0"], "synonyms": ["Autosomal recessive limb-girdle muscular dystrophy type 2H", "LGMD due to TRIM32 deficiency", "LGMD type 2H", "LGMD2H", "Limb-girdle muscular dystrophy due to TRIM32 deficiency", "Limb-girdle muscular dystrophy type 2H", "Sarcotubular myopathy", "TRIM32-related LGMD R8"]}
|
Congenital supravalvular mitral ring is a rare, congenital, mitral valve malformation characterized by an abnormal ridge of the connective tissue on the atrial side of the mitral valve, which can present clinically with signs and symptoms of left ventricle inflow obstruction (dyspnea, tachypnea, pulmonary hypertension, right ventricle hypertrophy, pulmonary edema). Association with other mitral valve anomalies, aortic stenosis, ventricular septal defect, patent ductus arteriosus, double-outlet right ventricle, pulmonary hypertension, and Shone complex has been reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Congenital supravalvular mitral ring
|
None
| 28,218 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99059
| 2021-01-23T16:59:50 |
{"icd-10": ["Q23.2"]}
|
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-37 (SCA37) is caused by heterozygous mutation in the DAB1 gene (603448) on chromosome 1p32.
Description
Spinocerebellar ataxia-37 (SCA37) is an autosomal dominant neurologic disorder characterized by adult onset of slowly progressive gait instability, frequent falls, and dysarthria associated with cerebellar atrophy on brain imaging (summary by Seixas et al., 2017).
For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).
Clinical Features
Serrano-Munuera et al. (2013) reported a large, multigenerational Spanish kindred with spinocerebellar ataxia. Detailed clinical data was available for 9 affected individuals. Initial symptoms of increased falls due to gait instability, dysarthria, and clumsiness appeared at a mean age of 48 years (range, 38-64). Clinical progression was slow, and 4 patients became wheelchair-bound 10 to 33 years after onset. More variable features included trunk ataxia, dysmetria, and dysphagia. All patients had abnormal ocular movements, consisting mostly of dysmetric vertical saccades and irregular vertical pursuit, and most patients later developed abnormal horizontal pursuit. A few patients had nystagmus. Electroocular studies performed on 2 symptomatic patients confirmed these findings. One asymptomatic family member had vertical eye movement abnormalities on electroocular studies, and he was found to carry the disease haplotype. Brain imaging showed cerebellar atrophy with sparing of the brainstem. None of the patients had sensory deficits or cognitive impairment.
Seixas et al. (2017) reported 6 families from southern Portugal with SCA37. Three of the pedigrees (pedigrees M, G, and R) were large and multigenerational with 35 affected individuals. The 3 additional families had 6 affected individuals. The patients had mainly adult onset (range, late teens to early 60s) of dysarthria and ataxic gait. Brain imaging showed cerebellar atrophy.
Corral-Juan et al. (2018) reported 4 unrelated families from the same area of southern Spain with SCA37. One of the families (AT-901) had previously been reported by Serrano-Munuera et al. (2013). Among all families, there were 25 affected individuals and 7 asymptomatic mutation carriers. The age at symptom onset ranged from 25 to 64 years (mean of 43 years), and the age of the asymptomatic mutation carriers ranged from 20 to 39 years. Affected individuals presented with clumsiness, falls, and/or dysarthria, with slow progression to a pure cerebellar syndrome with scanning speech, mild truncal ataxia, and severe dysmetria mostly in the legs. Vertical eye movement abnormalities were apparent early in the disease, whereas horizontal eye movement abnormalities occurred later. Additional features included dysphagia, tremor, oscillopsia, nystagmus, and saccadic eye intrusions. Patients became wheelchair-bound 10 to 33 years from onset, with the exception of 1 patient who became wheelchair-bound in 5 years. None of the patients had cognitive impairment. Brain imaging showed progressive cerebellar atrophy. Some asymptomatic mutation carriers showed vertical eye movement abnormalities and variable cerebellar vermis atrophy. Neuropathologic examination of 2 patients showed cerebellar atrophy with extensive and generalized Purkinje cell loss with abundant astrogliosis in the cerebellar cortex. Remaining Purkinje cells showed severe nuclear changes such as lobulation, irregular shape, and hyperchromatism, as well as aberrant dendrite arborization. Phosphoneurofilament immunoreactivity revealed many empty baskets with stained perikarya, and ubiquitinated perisomatic granules that immunostained with DAB1.
Inheritance
The transmission pattern of SCA37 in the family reported by Serrano-Munuera et al. (2013) and the families reported by Seixas et al. (2017) was consistent with autosomal dominant inheritance.
In the families reported by Seixas et al. (2017), there was evidence of instability upon transmission of the pathogenic repeat insertion, with an increase in length particularly when the father was the transmitting parent.
Mapping
By genomewide linkage analysis of a Spanish family with autosomal dominant SCA, Serrano-Munuera et al. (2013) found linkage to a 0.66-cM interval on chromosome 1p32 between markers D1S200 and D1S2742 (Zmax of 6.539). Exome sequencing did not identify the causative mutation.
Molecular Genetics
In 35 affected individuals from 3 large, multigenerational kindreds (pedigrees M, G, and R) from southern Portugal with SCA37, Seixas et al. (2017) identified a heterozygous 5-bp ATTTC(n) insertion in the 5-prime untranslated region intron 3 of the DAB1 gene. The insertion was within a simple ATTTT/AAAAT repeat that localized to the polymorphic middle A-rich region of an AluJb sequence. The insertion mutation, which was found by a complex process of linkage analysis, next-generation sequencing, PCR analysis, Southern blot analysis, and Sanger sequencing, segregated with the disorder in the families. Six affected individuals from 3 additional Portuguese families with SCA37 also carried the pathogenic insertion. Haplotype analysis was consistent with a founder effect in all 6 families. The insertion was not detected in 520 control Portuguese chromosomes. The heterozygous ATTTC(n) insertion, ranging from 31 to 75 repeats, was always flanked by (ATTTT)n tracts larger than 58 repeats. There was an inverse correlation between ATTTC insertion size and age of onset. In addition, there was instability upon transmission of the pathogenic repeat, with an increase in length particularly when the father was the transmitting parent. In every disease allele, the insertion site was identical and placed in the middle of the normal ATTTT repeat, thus maintaining the pentanucleotide repeat structure. Sequence analysis of 260 control individuals showed that none contained the pathologic ATTTC repeat insertion. The distribution of normal ATTTT/AAAAT repeats in over 500 control subjects showed mostly alleles shorter than 30 repeats, with a rare group of larger alleles ranging from 30 to 400 repeats (about 7%). In vitro cellular expression studies showed that the ATTTC(n) insertion resulted in the formation of abnormal RNA aggregates with a nuclear localization. Injection of RNA containing the pathologic DAB1 repeat insertion into zebrafish embryos resulted in developmental defects and increased lethality.
In affected members of 4 unrelated families with SCA37, all from the same region in southern Spain, Corral-Juan et al. (2018) identified an unstable intronic ATTTC(n) pentanucleotide repeat within a noncoding regulatory region of the DAB1 gene. One of the families had previously been reported by Serrano-Munuera et al. (2013). The ATTTC repeat ranged from 46 to 71 repeats, and there was a significant inverse correlation between repeat size and age at onset in males, but not in females. Neuropathologic analysis of 2 patients showed that DAB1 was overexpressed in the cerebellum compared to controls, and DAB1 showed abnormal perisomatic and perinuclear punctate staining in remaining Purkinje cells. There was also dysregulated expression of DAB1 transcripts, reelin proteins, and upregulation of the reelin-DAB1 signaling pathway, which may adversely affect neuronal migration. Corral-Juan et al. (2018) suggested that the mutation resulted in a gain of function.
INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Altered vertical eye movements \- Inaccurate saccades \- Irregular pursuit \- Altered horizontal eye movements \- Nystagmus ABDOMEN Gastrointestinal \- Dysphagia NEUROLOGIC Central Nervous System \- Cerebellar ataxia \- Gait instability \- Frequent falls \- Dysarthria \- Tremor \- Cerebellar atrophy \- Loss of Purkinje cells in the cerebellar cortex \- Astrogliosis \- Aberrant dendrite arborization of Purkinje cells in the cerebellum MISCELLANEOUS \- De novo mutation (in some patients) \- Mean age at onset 48 years (range late teens to early 60s) \- Slowly progressive \- Vertical eye movement abnormalities appear before horizontal eye movement abnormalities \- Slowly progressive \- Some patients become wheelchair-bound \- Increased frequency among families from southern Portugal and Spain MOLECULAR BASIS \- Caused by mutation (pentanucleotide repeat) in the DAB adaptor protein 1 gene (DAB1, 603448.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
SPINOCEREBELLAR ATAXIA 37
|
c3889636
| 28,219 |
omim
|
https://www.omim.org/entry/615945
| 2019-09-22T15:50:32 |
{"doid": ["0050984"], "omim": ["615945"], "orphanet": ["363710"], "synonyms": ["SCA37", "Spinocerebellar ataxia with altered vertical eye movements"], "genereviews": ["NBK541729"]}
|
A number sign (#) is used with this entry because of evidence that hyperekplexia-4 (HKPX4) is caused by homozygous mutation in the ATAD1 gene (614452) on chromosome 10q23.
Description
Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).
For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (149400).
Clinical Features
Ahrens-Nicklas et al. (2017) reported a large, highly consanguineous Kuwaiti family in which 6 infants had a severe neurologic disorder apparent from birth. Four of the patients died between 6 months and 2 years of age; detailed clinical information was available for 2 of the patients. The affected neonates presented with progressive extreme hypertonia, encephalopathy, respiratory failure, and early-onset refractory seizures. The proband was symptomatic from birth, but first examined at age 9 months. He had extreme hypertonia, contractures of the extremities, no spontaneous movement, and lack of response to tactile, visual, or auditory stimuli. He had minimally reactive pupils and absent gag and corneal reflexes, and he did not respond to painful stimuli. EEG showed hypsarrhythmia, and brain imaging showed progressive cerebral atrophy. His 2-month-old cousin was similarly affected, but had a slightly less severe phenotype in that he had spontaneous respiration and was awake and alert with reactive pupils. He had little spontaneous movement and tonic extension of the extremities. Brain imaging was unremarkable in the younger patient. Both patients also had inguinal hernia.
Piard et al. (2018) reported 3 sibs, born of consanguineous Tunisian parents, with HKPX4. The patients presented at birth with respiratory distress necessitating assisted ventilation. They had hypertonia with an exaggerated startle reflex, stiffness, tremor, adducted thumbs, brisk reflexes, and clonic movements. The patients had essentially no psychomotor development. EEG in 1 patient showed slow and disorganized background activity and multifocal epileptic discharges, whereas EEG was normal in another patient. More variable features included distal arthrogryposis, camptodactyly, kyphoscoliosis, high-arched palate, and poor or absent visual contact. Brain imaging performed in 1 patient soon after birth showed delayed myelination, although brain imaging in another patient was normal. The patients also had umbilical or inguinal hernias. All died between 3 and 6 months of age.
Wolf et al. (2018) reported a female infant, born of consanguineous parents, with a similar disorder. She was born in 1992 and died at age 8 months without a diagnosis. At birth, she was stiff and had hypertonia with contractures and closed fists, as well as myoclonic jerks that were amplified by mild physical stimulus. She had no spontaneous movements, continued to have rigidity, and had episodic hypoxia eventually resulting in death. Laboratory studies showed decreased GABA in the spinal fluid, but treatment with vigabatrin did not result in clinical improvement.
Inheritance
The transmission pattern of HKPX4 in the family reported by Ahrens-Nicklas et al. (2017) was consistent with autosomal recessive inheritance.
Clinical Management
Ahrens-Nicklas et al. (2017) treated 2 patients, who were first-cousins, with perampanel, an AMPAR antagonist. One child began treatment at 16 months of age, after brain imaging already showed severe cerebral atrophy. Although he continued to have severe neurologic deficits, there was some improvement in hypertonicity and seizure activity. The other patient was started on treatment at 2.5 months of age; he showed more significant functional improvement but did not have complete resolution of neurologic symptoms.
Molecular Genetics
In 3 affected members of a highly consanguineous Kuwaiti family with HKPX4, Ahrens-Nicklas et al. (2017) identified a homozygous nonsense mutation in the ATAD1 gene (E276X; 614452.0001). The mutation, which was found by exome sequencing, segregated with the disorder in the family and was consistent with linkage analysis. Patient cells showed significantly decreased mutant mRNA and absence of the protein on Western blot analysis, consistent with nonsense-mediated mRNA decay and a loss of function. Based on findings in animal models, Ahrens-Nicklas et al. (2017) postulated that the mutation resulted in a loss of function, likely causing increased AMPA receptor-mediated excitatory signaling due to impaired receptor recycling.
In 3 sibs, born of consanguineous Tunisian parents, with HKPX4, Piard et al. (2018) identified a homozygous 2-bp deletion in the ATAD1 gene (614452.0002). The mutation, which was found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. It was found in heterozygous state at a low frequency in the gnomAD database. In vitro functional expression studies suggested that the mutation locks the mutant protein in an oligomeric state, causing defects in the disassembly of AMPA receptors from their binding proteins. Expression of the mutation into Atad1-null neurons resulted in decreased surface expression of GluA2 (GRIA2; 138247) compared to wildtype. Piard et al. (2018) postulated that the mutation may inhibit the recycling back and/or reinsertion of AMPARs to the surface following endocytosis, resulting in a decrease in the steady-state levels of these receptors at the cell surface. The results suggested a gain-of-function effect that decreases the population of excitatory postsynaptic AMPA receptors. Patient-derived fibroblasts showed normal mitochondrial morphology and respiratory chain activity, although there was some alteration in peroxisomal and mitochondrial proteins.
In a girl, born of consanguineous parents, with HKPX4, Wolf et al. (2018) identified a homozygous mutation in the ATAD1 gene that was predicted to result in a missense mutation and/or a splicing defect, causing severe or complete loss of protein function. Parental DNA was not available for segregation analysis, and functional studies of the variant were not performed. The patient, who was deceased, was born in 1992 and did not have a diagnosis until Wolf et al. (2018) performed targeted Sanger sequencing of the ATAD1 gene after reading the report of Ahrens-Nicklas et al. (2017).
Animal Model
Zhang et al. (2011) found that thorase-knockout (KO) mice were viable but significantly smaller than their wildtype littermates. Most thorase-KO mice died by postnatal day 25 with seizures associated with increased AMPA currents. Examination of thorase-KO brains revealed no substantial abnormalities in dendritic complexity, or number, density, or size of dendritic spines. However, thorase-KO brains showed elevated steady-state surface expression of the AMPAR subunits Glur1 (GRIA1; 138248) and Glur2 compared with wildtype littermates. Loss of thorase in thorase-KO brains resulted in reduced endocytosis of AMPARs, but not of transferrin receptors (190010). Conditional thorase-KO mice exhibited seizures and showed deficits in short-term memory and in hippocampal-dependent spatial working memory.
Ahrens-Nicklas et al. (2017) hypothesized that treatment of Atad1-null mice with perampanel, an AMPAR antagonist, would result in therapeutic benefit. Treatment of the mice did not result in significant prevention of cerebral volume loss, but there was a trend toward improvement. Treatment corrected some of the motor defects in the mice, decreased seizure activity, and resulted in prolonged survival compared to untreated mice.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Poor or absent eye contact Mouth \- High-arched palate RESPIRATORY \- Respiratory insufficiency \- Respiratory failure SKELETAL \- Contractures \- Distal arthrogryposis Spine \- Kyphoscoliosis Hands \- Clenched fists \- Camptodactyly \- Adducted thumbs Feet \- Club feet MUSCLE, SOFT TISSUES \- Hypertonia \- Inguinal hernia \- Umbilical hernia NEUROLOGIC Central Nervous System \- Stiffness \- Hypertonia \- Hyperreflexia \- Encephalopathy \- Seizures, refractory (in some patients) \- Clonic movements \- Myoclonic jerks \- No spontaneous movement \- Lack of psychomotor development \- Lack of response to touch \- Slow and disorganized background activity seen on EEG (in some patients) \- Multifocal epileptic discharges (in some patients) \- Cerebral atrophy (in some patients) \- Poor myelination (in some patients) MISCELLANEOUS \- Onset at birth \- Progressive disorder \- Death usually in early childhood MOLECULAR BASIS \- Caused by mutation in the ATPase family, AAA domain-containing, member 1 gene (ATAD1, 614452.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
HYPEREKPLEXIA 4
|
c1835614
| 28,220 |
omim
|
https://www.omim.org/entry/618011
| 2019-09-22T15:44:07 |
{"mesh": ["C538136"], "omim": ["618011"], "orphanet": ["3197"]}
|
Double uterus, hemivagina and renal agenesis is a rare congenital urogenital anomaly characterized by the presence of double uterus (didelphys, bicornuate or septum-complete or partial), unilateral cervico-vaginal obstruction (obstructed hemivagina-communicant, not communicant or septate and unilateral cervical atresia) and ipsilateral renal anomalies (renal agenesis (see this term) and/or other urinary tract anomalies). Patients are usually diagnosed at puberty after menarche due to recurrent severe dysmenorrhea, chronic pelvic pain, excessive foul smelling mucopurulent discharge, spotting and intermenstrual bleeding (depending on the existence of uterine or vaginal communications). Fever, dyspareunia, and a palpable abdominal, pelvic or vaginal mass (mucocolpos or pyocolpos) may also be present.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Double uterus-hemivagina-renal agenesis syndrome
|
c1860549
| 28,221 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3411
| 2021-01-23T18:28:02 |
{"gard": ["1910"], "mesh": ["C566010"], "omim": ["192050"], "umls": ["C1860549"], "synonyms": ["Double uterus and obstructed hemivagina syndrome", "Herlyn-Werner syndrome", "OHVIRA syndrome", "Obstructed hemivagina and ipsilateral renal anomaly", "Wunderlich syndrome"]}
|
Combined oxidative phosphorylation defect type 9 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by initially normal growth and development followed by the infantile-onset of failure to thrive, psychomotor delay, poor feeding, dyspnea, severe hypertrophic cardiomyopathy and hepatomegaly. Laboratory studies report increased plasma lactate and alanine, abnormal liver enzymes and decreased activity of mitochondrial respiratory chain complexes I, III, IV, and V.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Combined oxidative phosphorylation defect type 9
|
c3281234
| 28,222 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=319509
| 2021-01-23T17:16:17 |
{"omim": ["614582"], "icd-10": ["I42.2"], "synonyms": ["COXPD9"]}
|
A number sign (#) is used with this entry because Warburg Micro syndrome-1 (WARBM1) is caused by homozygous mutation in the RAB3GAP1 gene (602536) on chromosome 2q21.
Description
Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010).
### Genetic Heterogeneity of Warburg Micro Syndrome
Warburg Micro syndrome-2 (WARBM2; 614225) is caused by mutation in the RAB3GAP2 gene (609275) on chromosome 1q41. WARBM3 (614222) is caused by mutation in the RAB18 gene (602207) on chromosome 10p12. WARBM4 (615663) is caused by mutation in the TBC1D20 gene (611663) on chromosome 20p13.
See also Martsolf syndrome (212720), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.
Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.
Clinical Features
Warburg et al. (1993) used the designation Micro syndrome for an autosomal recessive syndrome comprising microcephaly, microcornea, congenital cataract, mental retardation, optic atrophy, and hypogenitalism. They described an affected brother and sister and their male cousin. The sibs were offspring of a consanguineous Pakistani marriage; the parents of the cousin denied consanguinity. Agenesis of the corpus callosum, prominent root of the nose, large anteverted ears, facial hypertrichosis, small pupils with posterior synechiae, hypotonia, mild to moderate spastic palsy with hip dislocations, and hormonal dysfunction, presumably of hypothalamic origin, were other features. The children were almost blind, whether or not the cataracts had been operated on. The electroretinographic responses indicated dysfunction of both retinal rods and cones, and the visual evoked potentials confirmed optic nerve atrophy. The children were late walkers and were incontinent of urine and stools. In the differential diagnosis, Warburg et al. (1993) considered COFS syndrome (214150), CAMAK/CAMFAK syndromes (212540), Martsolf syndrome (212720), lethal Rutledge syndrome (270400), and lethal Neu-Laxova syndrome (256520).
Cases similar in nature to the phenotype designated 'Micro syndrome' by Warburg et al. (1993) had previously been described. Sjogren and Larsson (1949) reported 5 unrelated patients, 2 males and 3 females, with microphthalmia, mental retardation, and spastic diplegia. Additional ocular features included cataract in 2 patients, retino-choroiditis in 1, and degeneration of the retina in 1. Three of the patients also had epilepsy.
Pinsky et al. (1965) described 3 sisters with microcephaly, microphthalmia, corneal opacity, severe mental retardation, spastic cerebral palsy, and seizures. None had cataract or coloboma, although 2 had pupillary abnormalities. Their mother had unilateral microphthalmia and was of normal intelligence.
Balci et al. (1974) reported a 2-year-old girl, born of first-cousin parents, who had microcephaly, microphthalmia, diffuse corneal opacity, mental retardation, generalized muscular spasticity, and seizures. Urine chromatograms indicated significant glycinuria and a large glycine spot was detected by blood analysis.
Seemanova and Lesny (1996) described a 6-year-old Czech boy who had microcephaly, microphthalmia, microcornea, congenital cataract, severe mental deficiency, progressive spastic diplegia, hypogenitalism, and growth retardation. Dysmorphic features included brachycephaly, upslanting palpebral fissures, epicanthal folds, highly arched palate, small mouth, and retrognathia. At 6 years of age, the proband was unable to sit, walk, or speak. He had a similarly affected maternal uncle, and 2 maternal male cousins may also have been affected. Chromosomal and metabolic findings in the proband were normal. Seemanova and Lesny (1996) noted that the features in these patients resembled those of several autosomal recessive disorders, including Martsolf syndrome, but considered the phenotype distinct because of probable X-linked inheritance.
Megarbane et al. (1999) reported 4 children from a highly inbred Shiite Muslim family from southern Lebanon with hypotonia, spastic diplegia, microcephaly, microphthalmia, congenital cataract, optic atrophy, ptosis, kyphoscoliosis, short stature, severe mental retardation, and cerebral malformations. Six other children in the kindred were probably also affected. Megarbane et al. (1999) considered a number of possible diagnoses, but thought that the phenotype of this family most closely resembled that of Warburg Micro syndrome.
Rodriguez Criado et al. (1999) reported 2 sisters, born to unrelated parents, who displayed microcephaly, microphthalmia, microcorneas, cataracts, sparse medial eyebrows, micrognathia, and severe psychomotor retardation. Cerebral MRI in both showed subcortical atrophy with large ventricles, bilateral frontoparietal and insula cortical dysplasia, and hypoplasia of the corpus callosum and the vermis with a large cisterna magna. At 14 and 4 years of age, respectively, neither girl could speak or stand, and neither had sphincter control. Rodriguez Criado et al. (1999) noted that their patients had features similar to those originally described by Warburg et al. (1993) but had a different facial dysmorphism.
Ainsworth et al. (2001) studied 14 children with Micro syndrome, all from consanguineous families, and identified several consistent ophthalmic findings that they proposed might be pathognomonic for the syndrome: microphthalmos, microphakia, cataract, atonic pupils, mild optic atrophy, and severe cortical vision impairment. In addition, they noted that all of their patients had marked microcephaly within the first few months of life, hypotonia, spasticity within the first year of life, and severe global developmental delay. MRI revealed variable development of the corpus callosum, ranging from marked hypogenesis to normal in 1 patient; all images demonstrated some degree of pachygyria. Only some of the patients displayed the subtle dysmorphic facial features described by Warburg et al. (1993).
Derbent et al. (2004) reported a 7-month-old male, born to first-cousin Turkish parents, who had bilateral lens opacity and unresponsive pupils, low-set and posteriorly angulated ears, broad nasal root and beaked nose, long philtrum, micrognathia, and high-arched palate. He also had bilateral cryptorchidism and micropenis, mental delay, truncal hypotonia, and increased muscle tone in both legs. MRI revealed hypoplasia of the corpus callosum, diffuse cortical and subcortical atrophy, reduced myelinization, enlarged cisterna magna, and small orbits. An unusual finding in this patient was fusion of the lower poles of the kidneys and an ectopic left kidney.
Graham et al. (2004) described 3 pairs of affected sibs, including 1 pair with consanguineous parents, who were born with microcephaly, microcornea, and cataracts.
Abdel-Salam et al. (2007) described 7 Egyptian patients (5 males and 2 females) from 5 families with microcephaly, mild microphthalmia, microcornea, congenital cataracts, and hypogenitalism (only in males). Facial features were consistent with those originally described in the Micro syndrome in 3 patients; the remainder of the patients had facies similar to those described in Martsolf syndrome. The patients had a variable degree of brain atrophy, but hypogenesis of the corpus callosum was evident only in 5 patients. Abnormal gyral pattern, small cerebellum, vermian hypoplasia, and delayed myelination were additional imaging findings in 3 cases. All patients had delayed visual evoked potential but normal electroretinogram.
Yuksel et al. (2007) reported a 4-year-old boy with Warburg Micro syndrome, the offspring of first-cousin Turkish parents, who had the additional features of skin hyperextensibility, joint hypermobility, deformities of metatarsals in both feet, and overlapping toes.
Morris-Rosendahl et al. (2010) studied 7 patients with Warburg Micro syndrome from 5 families, all of whom had homozygous RAB3GAP1 (602536) mutations. Features that were consistently found in these patients included postnatal microcephaly, microphthalmia, microcornea, bilateral congenital cataracts, short palpebral fissures, optic atrophy, severe mental retardation, and congenital hypotonia with subsequent spasticity. Only 1 patient had microcephaly at birth. Analysis of brain MRIs revealed a consistent pattern of polymicrogyria in the frontal and parietal lobes, wide sylvian fissures, a thin hypoplastic corpus callosum, and increased subdural spaces.
Diagnosis
Graham et al. (2004) pointed out that a prenatal viral infection should be ruled out before considering mendelian origins for Micro syndrome. Nucleotide excision repair (NER) studies in cultured fibroblasts can be used to distinguish patients with Micro syndrome from those with COFS syndrome or Cockayne syndrome (see 216400), because the latter demonstrate hypersensitivity to ultraviolet radiation, whereas patients with Micro syndrome have normal results. Graham et al. (2004) stated that Micro syndrome can be distinguished from other similar clinical disorders with normal NER by the presence of significant visual impairment and cortical blindness despite early surgery for congenital cataracts, frontal polymicrogyria, thin corpus callosum, and cortical atrophy on MRI.
Mapping
Aligianis et al. (2005) carried out a 10-cM genomewide scan in 12 individuals with Warburg Micro syndrome from 8 consanguineous kindreds (7 Pakistani and 1 Moroccan), 5 of which had previously been described by Ainsworth et al. (2001). All affected individuals from 5 families were homozygous with respect to markers D2S410 and D2S1399. Genotyping of additional microsatellite markers in family members of these 5 kindreds confirmed a region of homozygosity at chromosome 2q21.3.
Molecular Genetics
Aligianis et al. (2005) identified inactivating mutations in the RAB3GAP1 gene (e.g., 602536.0001) in 5 kindreds with Warburg Micro syndrome linked to chromosome 2q21.3, 2 of which had previously been described by Ainsworth et al. (2001), but not in 3 unlinked kindreds. Investigation of an additional 10 families with Warburg Micro syndrome identified germline inactivating mutations in 7 families, including the family in which Warburg Micro syndrome was first described (Warburg et al., 1993) and 2 other families previously reported by Megarbane et al. (1999) and Graham et al. (2004), respectively. Kindreds with or without mutations in RAB3GAP1 were clinically indistinguishable.
Abdel-Salam et al. (2007) performed linkage analysis using markers flanking the RAB3GAP1 and RAB3GAP2 genes in 2 unrelated Egyptian patients with clinical features of Micro syndrome and found homozygosity for all markers flanking RAB3GAP1 in a 2-year-old boy, in whom they identified an R671X mutation (602536.0004) in the RAB3GAP1 gene. The other patient, an 11-month-old girl with an affected older brother who died at 2.5 years of age, showed no evidence of linkage to either gene.
In 7 patients with Warburg Micro syndrome from 5 families with Turkish, Palestinian, Danish, and Guatemalan backgrounds, Morris-Rosendahl et al. (2010) identified homozygosity for 5 different truncating RAB3GAP1 mutations, respectively (see, e.g., 602536.0006 and 602536.0007).
Handley et al. (2013) screened the RAB3GAP1, RAB3GAP2, and RAB18 genes in patients diagnosed with WARBM or Martsolf syndrome and identified homozygosity or compound heterozygosity for mutations in RAB3GAP1 (e.g., 602536.0003 and 602536.0008-602536.0011) in patients from 42 families, including the Czech boy with features of WARBM who was originally described by Seemanova and Lesny (1996). Handley et al. (2013) noted that 2 of the variants were missense mutations: homozygosity for T18P (602536.0010) was identified in affected children from 5 unrelated families of various ethnic origins, and for E24V (602536.0011) in an Egyptian family. Both missense mutations occurred at highly conserved residues, segregated with disease in each family, and were not found in 270 control chromosomes. The affected children all had typical eye, brain, and genital findings that were consistent with a diagnosis of WARBM.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Other \- Postnatal failure to thrive HEAD & NECK Head \- Microcephaly Face \- Micrognathia Ears \- Large ears Eyes \- Microphthalmia \- Microcornea \- Congenital cataract \- Optic atrophy \- Ptosis \- Deep-set eyes GENITOURINARY External Genitalia (Male) \- Hypogenitalism Internal Genitalia (Male) \- Cryptorchidism SKELETAL \- Osteoporosis Spine \- Kyphoscoliosis Limbs \- Joint hypermobility (rare) Hands \- Joint hypermobility (rare) Feet \- Deformities of metatarsal bones (rare) \- Overlapping toes (rare) SKIN, NAILS, & HAIR Hair \- Facial hypertrichosis NEUROLOGIC Central Nervous System \- Mental retardation \- Hypoplasia of the corpus callosum \- Agenesis of the corpus callosum \- Hypotonia \- Spastic diplegia \- Cerebral atrophy \- Cerebral malformations \- Hyperreflexia \- Cerebellar hypoplasia MOLECULAR BASIS \- Caused by mutation in the RAB3 GTPase-activating protein subunit 1 gene (RAB3GAP1, 602536.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
WARBURG MICRO SYNDROME 1
|
c1838625
| 28,223 |
omim
|
https://www.omim.org/entry/600118
| 2019-09-22T16:16:35 |
{"doid": ["0110716"], "mesh": ["C536681"], "omim": ["600118"], "orphanet": ["2510"], "synonyms": ["Alternative titles", "MICRO SYNDROME"], "genereviews": ["NBK475670"]}
|
This article includes a list of general references, but it remains largely unverified because it lacks sufficient corresponding inline citations. Please help to improve this article by introducing more precise citations. (March 2008) (Learn how and when to remove this template message)
Cats, like all living organisms, occasionally have mutations that affect their body type. Sometimes, these cat body-type mutations are striking enough that humans select for and perpetuate them. This is not always in the best interests of the cat, as many of these mutations are harmful; some are even lethal in their homozygous form.
Scottish Fold, a cat breed with naturally occurring folded ears
This page gives a selection of cat body type mutant alleles and the associated mutations with a brief description.
## Contents
* 1 Tail types
* 2 Limbs
* 3 Paws
* 4 Ear types
* 5 Size
* 6 References
## Tail types[edit]
A cat with the Japanese Bobtail mutation
Jb = Japanese bobtail gene (autosomal dominant). Cats homozygous and heterozygous for this gene display shortened and kinked tails. Cats homozygous for the gene tend to have shorter more kinked tails.[1] This can be distinguished phenotypically from the Manx cat mutation by the presence of kinking in the tail, often forming what looks like a knot at the distal end of the tail. Unlike the Manx tailless gene, there are no associated skeletal disorders and the gene is not associated with lethality.[2]
A Japanese Bobtail's bobbed tail
M = Manx tailless gene (dominant with high penetrance). Cats with the homozygous genotype (MM) die before birth, and stillborn kittens show gross abnormalities of the central nervous system. Cats with the heterozygous genotype (Mm) show severely shortened tail length, ranging from taillessness to a partial, stumpy tail. Some Manx cats die before 12 months old and exhibit skeletal and organ defects. Because it was discovered in naturally occurring populations of cats, the Manx gene could confer some kind of selective advantage to the cats, or it may simply be an example of the founder effect. The trait also occurred and died out in Cornwall (peninsular England), but persisted in the Isle of Man population where outbreeding was not frequent due to isolation.
A Manx cat
Shortened tails, most of which are indistinguishable from the Japanese Bobtail or the variably expressed Manx mutation, may occur sporadically in any cat breed or mixed-breed population. However, some may be novel mutations that have not been investigated.
There are multiple types of curly-tailed cats whose tails loop over the back or form tight corkscrews. One such mutation has been developed into the American Ringtail, but others have been regarded as curiosities and not perpetuated. The gene(s) responsible have not been fully investigated. However, a research study is under way at UC Davis under the guidance of Leslie A. Lyons, currently at the University of Missouri: http://felinegenetics.missouri.edu/feline-genome-project-2
## Limbs[edit]
Mk = Munchkin gene (dominant). Cats heterozygous for this gene (Mkmk) have shortened legs, but are not disabled. They have a ferret-like gait. The homozygous form (MkMk) may be lethal as litter sizes are smaller than average. Although there was initial concern that Munchkin-type cats would have impaired mobility or spinal problems, this was based on comparison with dog breeds and proved to be unfounded due to the cat's more flexible spine. The mutation has occurred naturally in many locations and has also been perpetuated in feral cats without human intervention (Robinson 1999). This gene is the basis for several intentionally selected breeds of dwarf cat.
The mutation has proven not to be achondroplasia[citation needed], but is most likely to be either hypochondroplasia or pseudochondroplasia, which affect the long bones of the leg while leaving other bodily proportions, especially the head, unchanged.
## Paws[edit]
Sh = Split Foot (Syndactyly). A dominant gene that reduces the number of toes resulting in a "lobster-claw" appearance. This is considered an undesirable mutation.
Polydactyl (extra-toed) cats. There are probably many genes, both dominant and recessive, that cause polydactyly in cats. Most cases of polydactyly in cats are perfectly harmless.
Pd = Thumb-cat polydactyly gene. The Pd gene (dominant with incomplete penetrance) causes the benign, pre-axial form of polydactyly where one or more extra toes occur near the dew claw. Often, the dew claw is converted into a thumb. There are occasional problems, such as fused claws or claws facing in the wrong direction, but, generally, this form of polydactyly is harmless.
On the other hand, the "hamburger-feet" polydactyly gene is associated with the gene for radial hypoplasia (RH). The 1995 European Convention for the Protection of Pet Animals considers RH an impairing condition. In a scandal in the late 1990s, an experimental breeder in Texas tried to perpetuate this deformity as the "Twisty Cat" breed.[3] Mild RH can cause the post-axial form of polydactyly – enlarged paws, extra three-jointed toes on the outer, little-toe side of the paws, and no thumb. X-rays can determine the structure of the extra toes and whether the cat has the gene for RH. Cats with the gene for RH should never be bred. Cats with severe RH have unusually short front legs. They move like a ferret and they tend to sit like a squirrel or kangaroo and are colloquially known as squittens. In some RH cats, the forelegs are twisted with the long bones either severely shortened or absent. All polydactyl cats are banned from German cat shows, possibly because of confusion with the impairing form of polydactyly associated with RH.
Polydactyl cats are relatively common in southwest Britain, Norway, Sweden, and the eastern coast of the United States and Canada, and some parts of Asia. Sailors thought they were lucky. Various folktales and dubious assumptions about polydactyl cats include that they are superior rodent hunters, that they have better balance on ships in stormy weather, that their paws are natural snowshoes, and that the opposable thumbs (in the thumb-cat form of polydactyly) give them a survival advantage.
Ernest Hemingway collected polydactyl cats, and the descendants of his pets may still be found at the Ernest Hemingway House in Key West.
## Ear types[edit]
Cu = American Curl gene (dominant). Cats with this gene have ears that start out normal, but gradually curl backwards. So far, no major harmful defects have been associated with this gene, however, due to the more exposed inner ear regular cleaning is required to prevent infection. Curled ears have also been observed in free-roaming cats in the Greek islands and in a cat in Australia.
Fd = Scottish Fold gene (dominant with incomplete penetrance). Cats with this gene have ears that curl forward. There are different degrees of folding, and more genes may be involved in the expression of the Fd gene. This gene is associated with bone and cartilage defects such as thickened tail and swollen feet. The homozygous form (FdFd) causes severe osteochondrodysplasia. Because of this, many breeders only breed folds to non-folds to avoid homozygous folds. However, heterozygous folds may also develop osteochondrodysplasia of lesser severity.
Australian Curl – a curl-eared mutation occurred in a female stray cat in Australia, but was not inherited by her offspring. When the original cat became ill, necessitating spaying, it was impossible to test-mate her sons back to her to identify a possibly recessive curled-ear mutation.[citation needed]
Sumxu or Chinese Lop-Eared Cat – extinct Chinese Lop-eared cat breed reported between 1700 and 1938 around Peking, most descriptions are based on a specimen in a German museum. The mode of inheritance of its pendulous ears is not known (the name Sumxu results from mistranslations and actually refers to a variety of marten).
Four ears – a recessive mutation that produced four pinnae or ear flaps (the additional pinnae did not lead to additional ear canals and organs of hearing). In a group of four-eared cats studied in 1957, in addition to duplicated ears, the eyes were reduced in size, the jaw was slightly undershot and the cats were relatively inactive and lethargic. Researchers believed that the functioning of the brain was affected. Breeding data indicated it was most often lethal with kittens dying in utero. The majority of recently reported four-eared cats have been healthy with various ear configurations suggesting other genes were involved or developmental abnormalities rather than hereditary factors.[4]
Rounded Ears - a rounded ears mutation occurred in a cat in Italy and is being assessed for breed potential. A similar mutation occurred among free-roaming cats in Texas, but died out. The ears have a rounded, rather than pointed, shape.[citation needed]
## Size[edit]
A germ-cell mutation occurred in a male Persian cat called Treker in 1995, resulting in diminutive, but healthy and normally-proportioned, offspring. Treker and the females with which he was mated were normally sized, but 75% of the kittens sired by Treker inherited diminutive stature, but of normal proportions. The gene was found to be dominant and the diminutive offspring were sold as teacup or toy Persians. Teacup/Toy Persians are a separate breed and not all cats advertised under those names result from Treker's dominant mutation. Most teacup and toy size Persian kittens raised now are descendants from Silver and Golden color division to reduce cat size and are in no way related to Treker.
## References[edit]
1. ^ Xu, Xiao; Sun, Xin; Hu, Xue-Song; Zhuang, Yan; Liu, Yue-Chen; Meng, Hao; Miao, Lin; Yu, He; Luo, Shu-Jin (2016-08-25). "Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats". Scientific Reports. 6 (1): 1–9. doi:10.1038/srep31583. ISSN 2045-2322. PMC 4997960. PMID 27560986.
2. ^ Xu, Xiao; Sun, Xin; Hu, Xue-Song; Zhuang, Yan; Liu, Yue-Chen; Meng, Hao; Miao, Lin; Yu, He; Luo, Shu-Jin (2016-08-25). "Whole Genome Sequencing Identifies a Missense Mutation in HES7 Associated with Short Tails in Asian Domestic Cats". Scientific Reports. 6 (1): 31583. doi:10.1038/srep31583. ISSN 2045-2322. PMC 4997960. PMID 27560986.
3. ^ Twisty Cats and the Ethics of Breeding for Deformity[clarification needed]
4. ^ Little, C. C. (March–April 1957). "Four-Ears, a Recessive Mutation in the Cat". Journal of Heredity. XLVIII (2): 57.
Notes
* Robinson, Roy. "Genetics for Cat Breeders and Veterinarians" Butterworth Heinemann 1999. ISBN 0-7506-4069-3
* Journal of Heredity
* Cat genetics[unreliable source?]
* Dwarf Cats - Purebred[unreliable source?]
* Cat Gene Loci[unreliable source?]
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cat body-type mutation
|
None
| 28,224 |
wikipedia
|
https://en.wikipedia.org/wiki/Cat_body-type_mutation
| 2021-01-18T18:34:40 |
{"wikidata": ["Q542635"]}
|
Proton-pump inhibitor-responsive esophageal eosinophilia (PPI-REE) is a rare, gastroenterologic disease characterized by typical clinical, endoscopic and histological features of eosinophilic oesophagitis (i.e. symptomatic oesophageal dysfunction associated with eosinophil-predominant mucose infiltrate) which completely remits upon proton pump inhibitor therapy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Proton-pump inhibitor-responsive esophageal eosinophilia
|
None
| 28,225 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411696
| 2021-01-23T17:01:05 |
{"icd-10": ["K20"], "synonyms": ["PPI-REE", "PPI-responsive esophageal eosinophilia", "PPIRee"]}
|
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation with defective fucosylation-1 (CDGF1) is caused by homozygous or compound heterozygous mutation in the FUT8 gene (602589) on chromosome 14q23.
Description
Congenital disorder of glycosylation with defective fucosylation is an autosomal recessive multisystem disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability. Additional highly variable congenital defects may be observed (summary by Ng et al., 2018).
### Genetic Heterogeneity of Congenital Disorders of Glycosylation with Defective Fucosylation
See also CDGF2 (618323), caused by mutation in the FCSK gene (608675) on chromosome 16q22.
For an overview of congenital disorders of glycosylation (CDG), see CDG1A (212065) and CDG2A (212066).
Clinical Features
Ng et al. (2018) reported 3 unrelated children with a complex multisystem disorder apparent from birth. Two of the pregnancies were complicated by polyhydramnios, and all infants showed intrauterine growth retardation with microcephaly. The neonatal period was characterized by feeding difficulties, requiring G-tube placement in 2 patients, failure to thrive, hypotonia, and respiratory problems. All had short stature with short limbs, and 1 also had contractures, osteopenia, dislocated hips, and kyphoscoliosis. The patients had severe global developmental delay, intellectual disability, and seizures. All had variable dysmorphic features, such as broad forehead, bitemporal narrowing, buphthalmos, wide nasal bridge, high palate, short nose, retrognathia, and hirsutism, but there was no consistent appearance. Additional features were highly variable: 1 patient had a 2-vessel cord, hypothyroidism, an atrial septal defect, nephrocalcinosis, and congenital neutropenia, and another had hypoglycemia, congenital glaucoma, and onset of seizures in the neonatal period. One patient died at age 7 years; this patient had a similarly affected deceased older sib.
Inheritance
The transmission pattern of CDGF in the families reported by Ng et al. (2018) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 unrelated children with CDGF, Ng et al. (2018) identified homozygous or compound heterozygous mutations in the FUT8 gene (602589.0001-602589.0004). The mutations were found by whole-exome sequencing and segregated with the disorder in the families. Western blot analysis of fibroblasts derived from 2 of the patients showed no detectable FUT8 protein. Serum of all 3 patients showed complete loss of total core fucosylated N-glycans compared to controls, and 1 patient also had abnormal non-fucosylated N-glycans, which was likely unrelated to the FUT8 defect. O-glycans were unaffected. Ng et al. (2018) noted that the transferrin pattern was normal, unlike that observed in most CDGs, which could pose a diagnostic challenge.
Animal Model
Wang et al. (2005) found that approximately 70% of Fut8-null mice died within 3 days of age. Those that survived showed severe growth retardation and emphysema-like changes in the lung. RT-PCR and Western blot analysis revealed marked overexpression of certain matrix metalloproteinases in the lung, such as MMP12 (601046) and MMP13 (600108), and downregulation of some extracellular matrix proteins, such as elastin (ELN; 130160). Lung tissue from these animals also showed retarded alveolar epithelial cell differentiation. Fut8-null mice showed marked dysregulation of TGF-beta-1 (TGFB1; 190180) signaling via its receptors (e.g., TGFBR2, 190182). Reintroduction of Fut8 or exogenous TGFB1 treatment both rescued the emphysema-like phenotype. Wang et al. (2005) suggested that lack of core fucosylation of TGFB1 receptors results in perturbed signaling and may contribute to developmental and/or progressive destructive emphysema.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Other \- Intrauterine growth retardation (IUGR) \- Failure to thrive HEAD & NECK Head \- Microcephaly Face \- Dysmorphic facial features, variable \- Broad forehead \- Bitemporal narrowing \- Retrognathia Eyes \- Buphthalmos \- Glaucoma Nose \- Wide nasal bridge \- Short nose Mouth \- High-arched palate CARDIOVASCULAR Heart \- Septal defects (1 patient) RESPIRATORY \- Respiratory insufficiency ABDOMEN Gastrointestinal \- Poor feeding GENITOURINARY Kidneys \- Nephrocalcinosis (1 patient) SKELETAL \- Contractures \- Osteopenia Spine \- Kyphoscoliosis Pelvis \- Dislocated hips Limbs \- Short limbs SKIN, NAILS, & HAIR Hair \- Hirsutism (1 patient) MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Seizures METABOLIC FEATURES \- Hypoglycemia (1 patient) ENDOCRINE FEATURES \- Hypothyroidism (1 patient) IMMUNOLOGY \- Neutropenia (1 patient) PRENATAL MANIFESTATIONS Amniotic Fluid \- Polyhydramnios LABORATORY ABNORMALITIES \- Serum analysis shows complete loss of total core fucosylated N-glycans \- Glycosylation of serum transferrin is normal MISCELLANEOUS \- Onset in utero \- Symptoms apparent at birth \- Variable phenotype \- Three unrelated children have been reported (last curated June 2018) MOLECULAR BASIS \- Caused by mutation in the fucosyltransferase 8 gene (FUT8, 602589.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1
|
c4693905
| 28,226 |
omim
|
https://www.omim.org/entry/618005
| 2019-09-22T15:44:05 |
{"omim": ["618005"], "synonyms": ["Alternative titles", "CDGF"]}
|
A group of acute febrile tick-borne diseases characterized by an overlapping clinical picture that includes fever, headache, myalgias, arthralgias, skin eruptions, gastrointestinal symptoms and neurological manifestations. Diseases in this group include human monocytotropic ehrlichiosis (HME), human granulocytotropic anaplasmosis (HGA), and human ehrlichiosis ewingii (HEE).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ehrlichiosis
|
c0085399
| 28,227 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1902
| 2021-01-23T18:53:52 |
{"gard": ["2092"], "mesh": ["D016873"], "umls": ["C0085399"], "icd-10": ["A48.8"]}
|
A number sign (#) is used with this entry because of evidence that the mutation resides in the gene for the C1 inhibitor (C1NH; 606860).
Clinical Features
Muir et al. (1984) described a partial deficiency of C4 in a kindred ascertained through a 26-year-old woman with systemic lupus erythematosus. Six healthy members of the family also had partial deficiency of C4. The inheritance pattern was autosomal dominant with involved persons in 4 sibships of 2 generations (and by inference in a third earlier generation) and with male-to-male transmission. This form of C4 deficiency differs from that in previously reported families in the mode of inheritance, in the marked reduction of C4 levels (2-5% of normal in the proband; 2.4-24.1% of normal in healthy relatives), and in the lack of linkage to HLA, BF and the C4 structural loci.
Wisnieski et al. (1987) found no evidence of hypercatabolism of C4 in metabolic turnover studies which appeared to be compatible with C4 hyposynthesis, even though C4 structural alleles were intact in affected members. In kindred members with decreased C4 levels, Wisnieski et al. (1994) found that after a 15-minute incubation, approximately 50% of serum C1 inhibitor did not complex with and inhibit C1r. However, C1 inhibitor function, as measured by both inhibition of C1s and the ability to form an SDS-stable complex with C1s, was normal in affected kindred members' sera. In addition, approximately half of the C1 inhibitor molecules in affected members' sera appeared to be relatively resistant to cleavage by trypsin. No member of this kindred had ever had angioedema.
Molecular Genetics
In affected members of the kindred originally reported by Muir et al. (1984), Zahedi et al. (1995) identified heterozygosity for an ala443-to-val mutation in the C1 inhibitor gene (606860.0012).
Immunology \- Partial C4 deficiency \- Systemic lupus erythematosus Inheritance \- Autosomal dominant ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF
|
c1852700
| 28,228 |
omim
|
https://www.omim.org/entry/120790
| 2019-09-22T16:43:01 |
{"mesh": ["C565168"], "omim": ["120790"], "orphanet": ["459353"], "synonyms": []}
|
Complement factor I deficiency is a disorder that affects the immune system. People with this condition are prone to recurrent infections, including infections of the upper respiratory tract, ears, skin, and urinary tract. They may also contract more serious infections such as pneumonia, meningitis, and sepsis, which may be life-threatening.
Some people with complement factor I deficiency have a kidney disorder called glomerulonephritis with isolated C3 deposits. Complement factor I deficiency can also be associated with autoimmune disorders such as rheumatoid arthritis or systemic lupus erythematosus (SLE). Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs.
## Frequency
Complement factor I deficiency is a rare disorder; its exact prevalence is unknown. At least 38 cases have been reported in the medical literature.
## Causes
Complement factor I deficiency is caused by mutations in the CFI gene. This gene provides instructions for making a protein called complement factor I. This protein helps regulate a part of the body's immune response known as the complement system. The complement system is a group of proteins that work together to destroy foreign invaders (such as bacteria and viruses), trigger inflammation, and remove debris from cells and tissues. This system must be carefully regulated so it targets only unwanted materials and does not attack the body's healthy cells. Complement factor I and several related proteins protect healthy cells by preventing activation of the complement system when it is not needed.
Mutations in the CFI gene that cause complement factor I deficiency result in abnormal, nonfunctional, or absent complement factor I. The lack (deficiency) of functional complement factor I protein allows uncontrolled activation of the complement system. The unregulated activity of the complement system decreases blood levels of another complement protein called C3, reducing the immune system's ability to fight infections. In addition, the immune system may malfunction and attack its own tissues, resulting in autoimmune disorders.
### Learn more about the gene associated with Complement factor I deficiency
* CFI
## Inheritance Pattern
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Complement factor I deficiency
|
c3463916
| 28,229 |
medlineplus
|
https://medlineplus.gov/genetics/condition/complement-factor-i-deficiency/
| 2021-01-27T08:25:24 |
{"mesh": ["C572568"], "omim": ["610984"], "synonyms": []}
|
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
## Epidemiology
PHNEC has been estimated to have an incidence of approximately 1/500,000, accounting for <1% of all malignancies. PHNEC is slightly more frequent in females.
## Clinical description
The age of onset is variable. In the early stages of PHNEC, patients may exhibit nonspecific symptoms, including upper abdominal pain and distension or fullness, while some may suffer from carcinoid syndrome (paroxysmal flushing, episodes of asthma-like wheezing, right-side heart failure and diarrhea). Progression of PHNEC is accompanied by the symptoms caused by tumor compression to adjacent organs, dyspepsia, weight loss and fatigue. More than 10% of cases are asymptomatic. PHNEC is not associated with cirrhosis or other forms of preexisting liver disease.
## Etiology
The etiology of PHNEC is still unknown but it is thought to arise from Kulchitsky cells originating in the neural crest. It is also hypothesized that chronic inflammation in the biliary system may initiate intestinal metaplasia, which predisposes to the development of neuroendocrine tumors. Another possibility is that they originate from ectopic pancreatic or adrenal tissues within the liver.
## Diagnostic methods
Diagnosis relies on laboratory findings showing negative serum alpha-fetoprotein levels and negative results for other conventional tumor markers (carcinoembryonic antigen, CA125 and CA19‑9) in addition to non-contrasted computed tomography (CT) scans showing low-density masses, with some having a cystic component. Dynamic contrast CT reveals enhanced masses in the early phase and low density masses in the late phase. On magnetic resonance imaging (MRI), PHNEC usually presents with low intensity on T1-weighted images and high intensity on T2-weighted images, and appears as a large dominant hypervascular mass accompanied by satellite nodules, with rapid washout and capsular enhancement on dynamic MRI and restricted diffusion on diffusion-weighted imaging. An octreoscan is recommended as it may detect small metastatic masses. Histologically, PHNEC appears as a hemorrhagic, non-capsulated mass, with central, irregular fibrosis and hyaline degeneration. The diagnosis may be confirmed by immunohistochemistry where the cells present a strong positivity for neurosecretory markers such as chromogranin, synaptophysin, neuron specific enolase, and S-100 protein.
## Differential diagnosis
Differential diagnosis includes hepatic adenoma, hepatocellular carcinoma, cholangiocarcinoma, congenital liver hemangioma (see these terms), focal nodular hyperplasia, primary hepatic angiosarcoma, secondary hepatic neuroendocrine carcinoma, or hepatic metastases from any other primary cancer site.
## Management and treatment
Surgery is often the only curative option and provides the most favorable outcome. For ill-defined lesions, a palliative cytoreductive surgery in combination with transcatheter arterial embolization (TACE) and subsequent administration of lanreotide (a long acting somatostatin analogue) may be effective. Targeted radiation therapy, given as either SIRT (selective internal radiation therapy) or PRRT (peptide receptor radiation therapy) is of theoretical benefit.
## Prognosis
Early detection and treatment are key in achieving a good prognosis. The prognosis depends on the pathological type, degree of differentiation, and size and boundary of the tumor as well as the presence of metastasis and the physical status of the patient.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Primary hepatic neuroendocrine carcinoma
|
c3273031
| 28,230 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100085
| 2021-01-23T16:58:30 |
{"icd-10": ["C22.7"]}
|
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Cradle cap" – news · newspapers · books · scholar · JSTOR (January 2014)
Cradle cap
Other namesinfantile or neonatal seborrhoeic dermatitis, crusta lactea, milk crust, honeycomb disease
An infant with Cradle cap
SpecialtyDermatology
Cradle cap causes crusty or oily scaly patches on a baby's scalp. The condition is not painful or itchy, but it can cause thick white or yellow scales that are not easy to remove. [1] Cradle cap most commonly begins sometime in the first three months but can occur in later years. Similar symptoms in older children are more likely to be dandruff than cradle cap. The rash is often prominent around the ear, the eyebrows or the eyelids. It may appear in other locations as well, where it is called infantile seborrhoeic dermatitis. Cradle cap is just a special - and more benign - case of this condition. The exact cause of cradle cap is not known. Cradle cap is not spread from person to person (contagious). It is also not caused by poor hygiene. It is not an allergy, and it is not dangerous. Cradle cap often lasts a few months. In some children, the condition can last until age 2 or 3.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Warning signs
* 4 Treatment
* 4.1 Scalp, behind ears, eyebrows
* 4.2 Eyelids
* 5 Prognosis / Differential Diagnosis
* 6 References
* 7 External links
## Signs and symptoms[edit]
Close up image of cradle cap
Cradle cap is seborrheic dermatitis that affects infants. It presents on the scalp as greasy patches of scaling,[3] which appear thick, crusty, yellow, white or brown.[4] The affected regions are not usually itchy and do not bother the child.[3][5] Other affected areas can include the eyelids, ear, around the nose, and in the groin. Hair loss can also occur.[4]
## Causes[edit]
Cradle cap is not caused by bacterial infection, allergy or poor hygiene.[4] Cradle cap is also not contagious.[4] Doctors do not agree on what causes cradle cap, but the two most common hypotheses are fungal infection and overactive sebaceous glands. Cradle cap is an inflammatory condition.[4]
Possibly it has to do with overactive sebaceous glands in the skin of newborn babies, due to the mother's hormones still in the baby's circulation. The glands release a greasy substance that makes old skin cells attach to the scalp instead of falling off as they dry. There is a relationship with skin yeasts (Pityrosporum ovale, newly renamed Malassezia furfur).[6]
## Warning signs[edit]
If the condition thickens, turns red and irritated, starts spreading, appears on other body parts, or if the baby develops thrush (fungal mouth infection), fungal ear infection (an ear infection that does not respond to antibiotics) or a persistent diaper rash, medical intervention is recommended.
Severe cases of cradle cap, especially with cracked or bleeding skin, can provide a place for bacteria to grow. If the cradle cap is caused by a fungal infection which has worsened significantly over days or weeks to allow bacterial growth (impetigo, most commonly), a combination treatment of antibiotics and antifungals may be necessary. Since it is difficult for a layperson to distinguish the difference between sebaceous gland cradle cap, fungal cradle cap, or either of these combined with a bacterial infection, medical advice should be sought if the condition appears to worsen.
Cradle cap is occasionally linked to immune disorders. If the baby is not thriving and has other problems (e.g. diarrhea), a doctor should be consulted.
## Treatment[edit]
To help with cradle cap, parents can gently massage their baby's scalp with their fingers or a soft brush to loosen the scales. They may want to shampoo the baby's hair more frequently (no more than once a day), and after shampooing gently brush the baby's scalp with a soft brush or a terrycloth towel. Oil remedies can be used by rubbing a small amount of pure, plant-derived oil (coconut oil, pure olive oil, almond oil) on the baby's scalp and leaving it on for 15 minutes. After 15 minutes, gently comb out the flakes with a fine tooth comb or brush. Be sure to wash out all of the oil to avoid making the cradle cap worse.[7]
In cases that are related to fungal infection, such as Tinea capitis, doctors may recommend a treatment application of clotrimazole (commonly prescribed for jock itch or athlete's foot) or miconazole (commonly prescribed for vaginal candidiasis).
Doctors may recommend a treatment with a mild dandruff shampoo such as Selsun Blue even though the treatment may cause initial additional scalp irritation. A doctor may instead prescribe an antifungal soap such as ketoconazole (2%) shampoo, which can work in a single treatment and shows significantly less irritation than over-the-counter shampoos such as selenium disulfide shampoos.[8]
There are only a limited number of studies regarding the efficacy and safety of treatments for cradle cap and infantile seborrheic dermatitis. Several treatments including Promiseb, lactamide MEA gel, hydrocortisone 1% lotion, licochalcone 0.025%, flumethasone pivalate 0.02% ointment, and eosin 2% aqueous solution have been studied, however there is uncertainty regarding the efficacy and safety of these treatments.[9]
For adults: see the article on seborrheic dermatitis (the adult version of cradle cap).
### Scalp, behind ears, eyebrows[edit]
If the cradle cap is not severe, it could simply be combed out gently after bathing. The softened scales can then be brushed away with a soft brush, comb or cloth, but if not done very gently, this could worsen the condition and bring about temporary hair loss. Applying petroleum jelly (e.g., Vaseline) liberally overnight is another popular treatment. The softened scales either fall off during the night, or can be brushed off in the morning.[10]
There is broad disagreement regarding the role of shampoos. Some sources warn against frequent shampooing, others recommend it. Mild baby shampoo is often recommended, but the exact denotation of the label "mild" in this context is not quite clear. Baby shampoos often contain detergent surfactants, perfumes, quaternium-15 and other eczemagenic irritants. No studies have been performed on non-prescription shampoos.[vague]
In stubborn cases some doctors may recommend keratolytic (dandruff) shampoos (e.g. with sulfur, selenium, zinc pyrithione, or salicylic acid) while others warn against the use of medicated shampoos in newborns due to systemic absorption. Dandruff shampoos often contain sodium dodecyl sulfate, a noted skin irritant.[11]
Steroid and tar preparations have also been used but may have drawbacks.[clarification needed] The immunomodulators tacrolimus/Protopic and pimecrolimus/Elidel have not been approved for children under two years.[12] [13]
Ketoconazole shampoos and creams are currently shown to be the most effective medical treatment of moderate to serious cradle cap.[3] There appears to be little to no absorption of topical ketoconazole into the bloodstream.[14] [15]
### Eyelids[edit]
Typical medical advice is to use baby shampoo, diluted with warm water, on a cotton swab to cleanse the eyelid. There is no agreement on the dilution, which ranges from as high as a 1:1 mix to as low as a few drops of shampoo per half-cup of water.
## Prognosis / Differential Diagnosis[edit]
Assurances that this condition will clear as the baby matures are very common. However, the condition occasionally persists into the toddler years, and less commonly into later childhood. It tends to recur in adolescence and persists into adulthood. In an Australian study, about 15 percent of previously diagnosed children still had eczema 10 years later. It is common that people mistake cradle cap for atopic dermatitis due to the common symptomatology. Unlike some signs and symptoms of cradle cap, atopic dermatitis affect infants' sleep and feeding habits with moderate to severe itching. In addition, one of the physical diagnosis of atopic dermatitis is poor crusted lesions on certain surfaces of the baby, such as scalp and cheek.[16] Rarely, it turns out to be misdiagnosed psoriasis.[citation needed]
## References[edit]
1. ^ "Cradle Cap". Mayo Clinic. Retrieved November 20, 2019.
2. ^ "MedlinePlus Medical Encyclopedia - Cradle Cap". Medline Plus. Retrieved November 20, 2019.
3. ^ a b c Sheffield, Ryan C.; Crawford, P.; Wright, S. T.; King, V. J. (March 2007). "Clinical inquiries. What's the best treatment for cradle cap?". The Journal of Family Practice. 56 (3): 232–3. PMID 17343816.
4. ^ a b c d e "Seborrheic dermatitis". National Center for Biotechnology Information. Retrieved 26 August 2012.
5. ^ Ro, Byung In; Dawson, Thomas L. (December 2005). "The Role of Sebaceous Gland Activity and Scalp Microfloral Metabolism in the Etiology of Seborrheic Dermatitis and Dandruff". Journal of Investigative Dermatology Symposium Proceedings. 10 (3): 194–197. doi:10.1111/j.1087-0024.2005.10104.x. ISSN 1087-0024. PMID 16382662.
6. ^ Victoire A, Magin P, Coughlan J, van Driel ML (2019). "Interventions for infantile seborrhoeic dermatitis (including cradle cap)". Cochrane Database Syst Rev. 3: CD011380. doi:10.1002/14651858.CD011380.pub2. PMC 6397947. PMID 30828791.CS1 maint: multiple names: authors list (link)
7. ^ "Cradle Cap". Baby Center. Retrieved 17 June 2015.
8. ^ "A randomized, double-blind, placebo-controlled trial of ketoconazole 2% shampoo versus selenium sulfide 2.5% shampoo in the treatment of moderate to severe dandruff". Better Health Channel. Elsevier. June 2018. Retrieved 2018-06-04.
9. ^ Driel, Mieke L. van; Coughlan, Jessica; Magin, Parker; Victoire, Anousha (2019). "Interventions for infantile seborrhoeic dermatitis (including cradle cap)". Cochrane Database of Systematic Reviews. 2019 (3): CD011380. doi:10.1002/14651858.CD011380.pub2. ISSN 1465-1858. PMC 6397947. PMID 30828791.
10. ^ "Cradle Cap - StatPearls". NBCI Bookshelf. Retrieved November 20, 2019.
11. ^ "Fact Sheet: Cradle cap". Better Health Channel. Victorian Government, Australia. April 2006. Retrieved 2006-07-14.
12. ^ "Tacrolimus Topical: MedlinePlus Drug Information". medlineplus.gov.
13. ^ "Pimecrolimus Topical: MedlinePlus Drug Information". medlineplus.gov.
14. ^ Kucers' the use of antibiotics : a clinical review of antibacterial, antifungal, antiparasitic and antiviral drugs (6th ed.). CRC Press. 2010. ISBN 978-1444147520. Retrieved 20 November 2019.
15. ^ Wang, K; Wu, Y; Chi, Z; Shu, C; Li, L; Wei, J; Tao, L; Ma, P; Ding, L (5 September 2016). "A highly sensitive LC-MS/MS method for determination of ketoconazole in human plasma: Application to a clinical study of the exposure to ketoconazole in patients after topical administration". Journal of Pharmaceutical and Biomedical Analysis. 128: 504–509. doi:10.1016/j.jpba.2016.06.025. PMID 27379747.
16. ^ Nobles, Timothy; Krishnamurthy, Karthik (2019), "Cradle Cap", StatPearls, StatPearls Publishing, PMID 30285358, retrieved 2019-08-02
## External links[edit]
Classification
D
* ICD-10: L21.0
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|
Cradle cap
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c0221244
| 28,231 |
wikipedia
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https://en.wikipedia.org/wiki/Cradle_cap
| 2021-01-18T18:47:47 |
{"mesh": ["D063807"], "umls": ["C0221244"], "wikidata": ["Q1934513"]}
|
Conduction aphasia
Other namesAssociative aphasia
Broca's area and Wernicke's area of the brain, which are also terms for different types of Aphasia.
SpecialtyNeurology
Play media
Video of a woman who suffers from conduction aphasia. When asked to count to ten, she notices her errors in her words, and continues trying to correct them.
Conduction aphasia, also called associative aphasia, is an uncommon form of difficulty in speaking (aphasia). It is caused by damage to the parietal lobe of the brain. An acquired language disorder, it is characterised by intact auditory comprehension, coherent (yet paraphasic) speech production, but poor speech repetition. Affected people are fully capable of understanding what they are hearing, but fail to encode phonological information for production. This deficit is load-sensitive as the person shows significant difficulty repeating phrases, particularly as the phrases increase in length and complexity and as they stumble over words they are attempting to pronounce.[1][2] People have frequent errors during spontaneous speech, such as substituting or transposing sounds. They are also aware of their errors and will show significant difficulty correcting them.[3]
For example:
> Clinician: Now, I want you to say some words after me. Say ‘boy’.
>
> Aphasic: Boy.
>
> Clinician: Home.
>
> Aphasic: Home.
>
> Clinician: Seventy-nine.
>
> Aphasic: Ninety-seven. No … sevinty-sine … siventy-nice….
>
> Clinician: Let’s try another one. Say ‘refrigerator’.
>
> Aphasic: Frigilator … no? how about … frerigilator … no frigaliterlater … aahh! It’s all mixed up!"[4]
In 1970, Tim Shallice and Elizabeth Warrington were able to differentiate two variants of this constellation: the reproduction and the repetition type. These authors suggested an exclusive deficit of auditory-verbal short-term memory in repetition conduction aphasia whereas the other variant was assumed to reflect disrupted phonological encoding mechanism, afflicting confrontation tasks such as repetition, reading and naming in a similar manner.[5]
Left-hemisphere damage involving auditory regions often result in speech deficits. Lesions in this area that damage the sensorimotor dorsal stream suggest that the sensory system aid in motor speech. Studies have suggested that conduction aphasia is a result of damage specifically to the left superior temporal gyrus and/or the left supra marginal gyrus.[6] The classical explanation for conduction aphasia is a disconnection between the brain areas responsible for speech comprehension (Wernicke's area) and that of speech production (Broca's area). This is do due to specific damage to the arcuate fasciculus, a deep white matter tract. Aphasic people are still able to comprehend speech as the lesion does not disrupt the ventral stream pathway.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 History
* 7 See also
* 8 References
* 9 Further reading
* 10 External links
## Signs and symptoms[edit]
Conduction aphasics will show relatively well-preserved auditory comprehension, which may even be completely functional. All cases are individualized and unique to their own extent. Speech production will be fluent, grammatically, and syntactically correct. Intonation and articulation will also be maintained. Speech often contains some paraphasic errors: phonemes and syllables will be dropped or transposed (e.g., "snowball" → "snowall", "television" → "vellitision", "ninety-five percent" → "ninety-twenty percent"). The hallmark deficit of this disorder, however, is in repetition. Aphasic people will show an inability to repeat words or sentences when asked by an examiner.[7][8] After saying a sentence to a person with conduction aphasia, he or she will be able to paraphrase the sentence accurately but will not be able to repeat it. This is possibly because their "motor speech error processing is disrupted by inaccurate forward predictions, or because detected errors are not translated into corrective commands due to damage to the auditory-motor interface".[9][10] When prompted to repeat words, the person will be unable to do so, and produce many paraphasic errors. For example, when prompted with "bagger", a person may respond with, "gabber".[11] Recent summaries about the syndrome show similarities between defective speech and writing and their relatively good comprehension. The sudden speech of a conduction aphasic is fluent, yet it is lengthy and inadequately structured. Aphasic people have difficulty in finding words appropriate to context and in accurately pronouncing a word. Aphasic errors in naming, reading aloud, and repeating are recognized.
Individuals with conduction aphasia are able to express themselves fairly well, with some word finding and functional comprehension difficulty.[12] Although people with aphasia may be able to express themselves fairly well, they tend to have issues repeating phrases, especially phrases that are long and complex.[12] During an assessment of aphasia, the clinician usually examine the person's verbal fluency, comprehension, repetition, reading, writing, and naming. When asked to repeat something, the person will be unable to do so without significant difficulty, repeatedly attempting to self-correct (conduite d'approche).
However, aphasics recognize their errors and will repetitively try to correct them. Typically, an aphasic will make multiple attempts correcting errors until they are correct. This recognition is due to preserved auditory error detection mechanisms.[10] Errors frequently fit a pattern of incorrect approximations. These common errors typically occur in morphemes that a) share one or more similarly located phonemes but b) differ in at least one aspect that makes the substituted morpheme(s) semantically distinct. This repetitive effort to approximate the appropriate word or phrase is known as conduite d’approche.[8] Repetitive self correction is commonly used by Aphasic people of conduction aphasia. Due to their relatively preserved auditory comprehension, conduction aphasics are capable of accurately monitoring, and attempting to correct, their own errors in speech output.[13] For example, when prompted to repeat "Rosenkranz", a German-speaking aphasic may respond with, "rosenbrau... rosenbrauch... rosengrau... bro... grosenbrau... grossenlau, rosenkranz,... kranz... rosenkranz".[11]
Conduction aphasia is a mild language disability, and most people return to their normal lives.[11][14] Broca's and Wernicke's aphasia are commonly caused by middle cerebral artery strokes.[15] Symptoms of conduction aphasia, as with other aphasias, can be transient, sometimes lasting only several hours or a few days. As aphasia's and other language disorders are frequently due to stroke, their symptoms can change and evolve over time, or simply disappear. If the cause is a stroke, people can make a good recovery but may have persistent deficits.[16] This is because the healing in the brain after inflammation or hemorrhage, leads to decreased local impairment. Furthermore, the plasticity of the brain may allow the recruitment of new pathways to restore lost function. For example, the right hemisphere speech systems may learn to correct for left-hemisphere damage. However, chronic conduction aphasia is possible, without transformation to other aphasias.[11] These people show prolonged, profound deficits in repetition, frequent phonemic paraphasias, and repetitive self-correction during spontaneous speech.
## Causes[edit]
Conduction aphasia is caused by damage to the parietal lobe of the brain, especially in regards to the area associated with the left-hemisphere dominant dorsal stream network.[17][10] The arcuate fasciculus, which connects Broca's area and Wernicke's area (important for speech and language production and comprehension, respectively), is affected.[17] These two areas control speech and language in the brain. The arcuate fasciculus is a thick band of fiber that connects the two areas and carries messages between them. When this area is damaged, the person experiences damage to the auditory-motor integration system. This results in disruption to the delayed auditory feedback network, causing the individual to have difficulty correcting themselves on speech repetition tasks.[10] Additionally, recent evidence suggests that conduction aphasia can also be caused by lesions in the left superior temporal gyrus and/or the left supramarginal gyrus.[6]
Conduction aphasia can also be seen in cases of cortical damage without subcortical extensions.[18]
## Pathophysiology[edit]
Recent research has pointed to multiple different explanations for conduction aphasia, which is based on newer models suggesting language is facilitated by "cortically based, anatomically distributed, modular networks." In simpler terms, the research is based on the fact that it is most likely that is occurs with the condition being built through the cerebrum.[19]
## Diagnosis[edit]
Several standardized test batteries exist for diagnosing and classifying aphasias. These tests are capable of identifying conduction aphasia with relative accuracy.[8] The Boston Diagnostic Aphasia Examination (BDAE) and the Western Aphasia Battery (WAB) are two commonly used test batteries for diagnosing conduction aphasia. These examinations involve a set of tests, which include asking person to name pictures, read printed words, count aloud, and repeat words and non-words (such as shwazel). Neuro-imaging should also be used to look for a stroke, tumor, infection, or another pathology in the setting of conduction aphasia. This can be done through a CT or MRI or the brain; these are the first imaging modality of choice.[16]
## Treatment[edit]
Speech and language therapy are typically used as a treatment. There are no medical or surgical treatments. Treatment for Aphasia is generally individualized, focusing on specific language and communication improvements, and regular exercise with communication tasks. Regular therapy for conduction aphasics has been shown to result in steady improvement on the Western Aphasia Battery. The Western Aphasia Battery assesses neurological disorders to discern the degree and type of aphasia present. The test also discerns a person’s strengths and weaknesses, which can be used to treat the person better. Therapists should customize their treatment for each patient. The main focus for during speech therapy for conduction aphasia person is to strengthen correct word usage and auditory comprehension. A major goal is to focus on repetition.[20]
## History[edit]
In the late 19th century, Paul Broca studied person with expressive aphasia. These person had lesions in the anterior perisylvian region (now known as Broca's area), and produced halting and labored speech, lacking in function words and grammar.
For example:
> Clinician: What brought you to the hospital?
>
>
>
>
> Patient: yes … ah … Monday … ah … Dad … Peter Hogan, and Dad … ah … hospital … and ah … Wednesday … Wednesday … nine o’clock and ah Thursday … ten o’clock … doctors two … two … an doctors and … ah … teeth … yah … and a doctor an girl … and gums, an I.[21]
Comprehension is generally preserved, although there can be deficits in interpretation of complex sentences. In an extreme example, one of his person could only produce a single syllable, "Tan".
Meanwhile, Carl Wernicke described person with receptive aphasia, who had damage to the left posterior superior temporal lobe, which he named "the area of word images". These person could speak fluently, but their speech lacked meaning. They had a severe deficit in auditory comprehension. For example, "Clinician: What brings you to the hospital? [21]
The two disorders (expressive and receptive aphasias) thus seemed complementary, and corresponded to two distinct anatomical locations.
Wernicke predicted the existence of conduction aphasia in his landmark 1874 monograph, Der Aphasische Symptomenkompleks: Eine Psychologische Studie auf Anatomischer Basis.[3][19][22] He was the first to distinguish the various aphasias in an anatomical framework, and proposed that a disconnection between the two speech systems (motor and sensory) would lead to a unique condition, distinct from both expressive and receptive aphasias, which he termed Leitungsaphasie. He did not explicitly predict the repetition deficit, but did note that, unlike those with Wernicke's aphasia, conduction aphasics would be able to comprehend speech properly, and intriguingly, would be able to hear and understand their own speech errors, leading to frustration and self-correction.[22][23]
Wernicke was influenced by Theodor Meynert, his mentor, who postulated that aphasias were due to perisylvian lesions. Meynert also distinguished between the posterior and anterior language systems, leading Wernicke to localize the two regions.[19] Wernicke's research into the fiber pathways connecting the posterior and anterior regions lead him to theorize that damage to the fibers under the insula would lead to conduction aphasia. Ludwig Lichtheim expanded on Wernicke's work, although he labeled the disorder commissural aphasia, to distinguish between aphasias tied to processing centers.[24]
Sigmund Freud would argue in 1891 that the old framework was inaccurate; the entire perisylvian area, from the posterior to the anterior regions, were equivalent in facilitating speech function. In 1948 Kurt Goldstein postulated that spoken language was a central phenomenon, as opposed to a differentiated and disparate set of functionally distinct modules. To Freud and Goldstein, conduction aphasia was thus the result of a central, core language breakdown; Goldstein labeled the disorder central aphasia.[19]
Later work and examination of brain structures, however, implicated the arcuate fasciculus, a white matter bundle connecting the posterior temporoparietal junction with the frontal cortex. Norman Geschwind proposed that damage to this bundle caused conduction aphasia; the characteristic deficits in auditory repetition were due to failed transmission of information between the two language centers.[19] Studies showed that conduction aphasics had an intact 'inner voice', which discredited the central deficit model of Freud and Goldstein.[25] The Wernicke-Lichtheim-Geschwind disconnection hypothesis thus became the prevailing explanation for conduction aphasia. However, recent reviews and research have cast doubt on the singular role of the arcuate fasciculus and the model of spoken language in general.[26]
## See also[edit]
* Expressive aphasia
* Receptive aphasia
* Anomic aphasia
* Broca's area
* Wernicke's area
* Wernicke-Geschwind model
* Speech repetition
## References[edit]
1. ^ Conduction Aphasia. (n.d.). Retrieved from http://www.asha.org/Glossary/Conduction-Aphasia/
2. ^ Carlson, Neil R.; Heth, C. Donald (2007). Psychology the science of behaviour (4th ed.). Pearson Education Inc. ISBN 978-0-205-64524-4.
3. ^ a b Gazzaniga, Michael S.; Ivry, Richard B.; Mangun, George R. (2002). Cognitive neuroscience: the biology of the mind. New York: W. W. Norton. p. 389. ISBN 0-393-97777-3.
4. ^ Robert H. Brookshire. An Introduction to Neurogenic Communication Disorders, 6e. volume. Mosby Year Book, St. Louis, 2003.
5. ^ Sidiropoulos, Kyriakos; De Bleser, Ria; Ackermann, Hermann; Preilowski, Bruno (2008). "Pre-lexical disorders in repetition conduction aphasia". Neuropsychologia. 46 (14): 3225–38. doi:10.1016/j.neuropsychologia.2008.07.026. PMID 18761023.
6. ^ a b Tippett, Donna C; Hillis, Argye E (2016). "Vascular Aphasia Syndromes". In Hickok, Gregory; Small, Steven L (eds.). Neurobiology of Language. pp. 913–22. doi:10.1016/B978-0-12-407794-2.00073-0. ISBN 978-0-12-407794-2.
7. ^ Damasio, Hanna; Damasio, Antonio R (1980). "The Anatomical Basis of Conduction Aphasia". Brain. 103 (2): 337–50. doi:10.1093/brain/103.2.337. PMID 7397481.
8. ^ a b c Kohn, Susan E. (1992). Conduction aphasia. Hillsdale, N.J: L. Erlbaum. pp. 40–42. ISBN 0-8058-0681-4.
9. ^ Manasco, Hunter (2017). "The Aphasias". Introduction to Neurogenic Communication Disorders. pp. 93–44. ISBN 978-1-284-10072-3.
10. ^ a b c d Behroozmand, Roozbeh; Phillip, Lorelei; Johari, Karim; Bonilha, Leonardo; Rorden, Chris; Hickok, Gregory; Fridriksson, Julius (2018). "Sensorimotor impairment of speech auditory feedback processing in aphasia". NeuroImage. 165: 102–11. doi:10.1016/j.neuroimage.2017.10.014. PMC 5732035. PMID 29024793.
11. ^ a b c d Bartha, Lisa; Benke, Thomas (2003). "Acute conduction aphasia: An analysis of 20 cases". Brain and Language. 85 (1): 93–108. doi:10.1016/S0093-934X(02)00502-3. PMID 12681350.
12. ^ a b "Conduction Aphasia". www.asha.org. Retrieved 2015-11-13.
13. ^ Buschbaum, Bradley R; et al. (2011). ""Conduction Aphasia, Sensory-Motor Integration, and Phonological Short-Term Memory - an Aggregate Analysis of Lesion and FMRI Data." Brain and Language". Brain and Language. 119 (3): 119–128. doi:10.1016/j.bandl.2010.12.001. PMC 3090694. PMID 21256582.
14. ^ Benson, D. Frank; Sheremata, W. A; Bouchard, R; Segarra, J. M; Price, D; Geschwind, N (1973). "Conduction Aphasia". Archives of Neurology. 28 (5): 339–46. doi:10.1001/archneur.1973.00490230075011. PMID 4696016.
15. ^ Acharya, Aninda B. (2019). "Conduction Aphasia". "Conduction Aphasia." StatPearls [Internet]. U.S. National Library of Medicine, 29 June 2019.
16. ^ a b Acharya, Aninda B. (2019). "Conduction Aphasia". "Conduction Aphasia." StatPearls [Internet]. U.S. National Library of Medicine, 29 June 2019.
17. ^ a b Manasco, M. Hunter (2014). Introduction to Neurogenic Communication Disorders. Jones & Bartlett Learning.[page needed]
18. ^ Ardila, Alfredo (2010). "A Review of Conduction Aphasia". Current Neurology and Neuroscience Reports. 10 (6): 499–503. doi:10.1007/s11910-010-0142-2. PMID 20711691.
19. ^ a b c d e Anderson, J.M; Gilmore, R; Roper, S; Crosson, B; Bauer, R.M; Nadeau, S; Beversdorf, D.Q; Cibula, J; Rogish, M; Kortencamp, S; Hughes, J.D; Gonzalez Rothi, L.J; Heilman, K.M (1999). "Conduction Aphasia and the Arcuate Fasciculus: A Reexamination of the Wernicke–Geschwind Model". Brain and Language. 70 (1): 1–12. doi:10.1006/brln.1999.2135. PMID 10534369.
20. ^ Bakheit, A.M.O; Shaw, S; Carrington, S; Griffiths, S (2016). "The rate and extent of improvement with therapy from the different types of aphasia in the first year after stroke". Clinical Rehabilitation. 21 (10): 941–9. doi:10.1177/0269215507078452. PMID 17981853.
21. ^ a b Howard, H. (2017, October 7). Cerebral cortex. Retrieved from http://www.tulane.edu/~howard/BrLg/Cortex.html
22. ^ a b Kohn, Susan E. (1992). Conduction aphasia. Hillsdale, N.J: L. Erlbaum. pp. 25–26. ISBN 0-8058-0681-4.
23. ^ Köhler, Kerstin; Bartels, Claudius; Herrmann, Manfred; Dittmann, Jürgen; Wallesch, Claus-W (1998). "Conduction aphasia—11 classic cases". Aphasiology. 12 (10): 865–84. doi:10.1080/02687039808249456.
24. ^ Kohn, Susan E. (1992). Conduction aphasia. Hillsdale, N.J: L. Erlbaum. pp. 28–29. ISBN 0-8058-0681-4.
25. ^ Feinberg, T. E; Rothi, L. J. G; Heilman, K. M (1986). "'Inner Speech' in Conduction Aphasia". Archives of Neurology. 43 (6): 591–3. doi:10.1001/archneur.1986.00520060053017. PMID 3718287.
26. ^ Love, Tracy; Brumm, Kathleen (2012-12-31), "Language processing disorders", Cognition and Acquired Language Disorders, pp. 202–226, ISBN 978-0-323-07201-4, retrieved 2020-04-26
## Further reading[edit]
* Hickok, Gregory; Buchsbaum, Bradley; Humphries, Colin; Muftuler, Tugan (2003). "Auditory–Motor Interaction Revealed by fMRI: Speech, Music, and Working Memory in Area Spt". Journal of Cognitive Neuroscience. 15 (5): 673–82. doi:10.1162/089892903322307393. PMID 12965041.
* Hickok, Gregory; Poeppel, David (2004). "Dorsal and ventral streams: A framework for understanding aspects of the functional anatomy of language". Cognition. 92 (1–2): 67–99. doi:10.1016/j.cognition.2003.10.011. PMID 15037127.
* Baldo, J; Klostermann, E; Dronkers, N (2008). "It's either a cook or a baker: Patients with conduction aphasia get the gist but lose the trace". Brain and Language. 105 (2): 134–40. doi:10.1016/j.bandl.2007.12.007. PMID 18243294.
* Carlson, Neil R.; Heth, C. Donald (2007). Psychology the science of behaviour (4th ed.). Pearson Education Inc. ISBN 978-0-205-64524-4.
* Sidiropoulos, Kyriakos; Ackermann, Hermann; Wannke, Michael; Hertrich, Ingo (2010). "Temporal processing capabilities in repetition conduction aphasia". Brain and Cognition. 73 (3): 194–202. doi:10.1016/j.bandc.2010.05.003. PMID 20621742.
## External links[edit]
Classification
D
* MeSH: D018886
Topics related to Conduction aphasia
* v
* t
* e
Symptoms, signs and syndromes associated with lesions of the brain and brainstem
Brainstem
Medulla (CN 8, 9, 10, 12)
* Lateral medullary syndrome/Wallenberg
* PICA
* Medial medullary syndrome/Dejerine
* ASA
Pons (CN 5, 6, 7, 8)
* Upper dorsal pontine syndrome/Raymond-Céstan syndrome
* Lateral pontine syndrome (AICA) (lateral)
* Medial pontine syndrome/Millard–Gubler syndrome/Foville's syndrome (basilar)
* Locked-in syndrome
* Internuclear ophthalmoplegia
* One and a half syndrome
Midbrain (CN 3, 4)
* Weber's syndrome
* ventral peduncle, PCA
* Benedikt syndrome
* ventral tegmentum, PCA
* Parinaud's syndrome
* dorsal, tumor
* Claude's syndrome
Other
* Alternating hemiplegia
Cerebellum
* Latearl
* Dysmetria
* Dysdiadochokinesia
* Intention tremor)
* Medial
* Cerebellar ataxia
Basal ganglia
* Chorea
* Dystonia
* Parkinson's disease
Cortex
* ACA syndrome
* MCA syndrome
* PCA syndrome
* Frontal lobe
* Expressive aphasia
* Abulia
* Parietal lobe
* Receptive aphasia
* Hemispatial neglect
* Gerstmann syndrome
* Astereognosis
* Occipital lobe
* Bálint's syndrome
* Cortical blindness
* Pure alexia
* Temporal lobe
* Cortical deafness
* Prosopagnosia
Thalamus
* Thalamic syndrome
Other
* Upper motor neuron lesion
* Aphasia
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Conduction aphasia
|
c0234471
| 28,232 |
wikipedia
|
https://en.wikipedia.org/wiki/Conduction_aphasia
| 2021-01-18T18:57:00 |
{"mesh": ["D018886"], "wikidata": ["Q1236057"]}
|
Constrictive pericarditis
Other namesPericarditis - constrictive[1]
Constrictive pericarditis is defined by a fibrotic (thickened) pericardium.
SpecialtyCardiology
SymptomsFatigue[1]
CausesTuberculosis, Heart surgery[1]
Diagnostic methodCT scan, MRI[1]
TreatmentDiuretic, Antibiotics[1]
Constrictive pericarditis
Constrictive pericarditis is a medical condition characterized by a thickened, fibrotic pericardium, limiting the heart's ability to function normally.[1] In many cases, the condition continues to be difficult to diagnose and therefore benefits from a good understanding of the underlying cause.[2]
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Pathophysiology
* 4 Diagnosis
* 5 Treatment
* 6 References
* 7 Further reading
* 8 External links
## Signs and symptoms[edit]
Signs and symptoms of constrictive pericarditis are consistent with the following: fatigue, swollen abdomen, difficulty breathing (dyspnea), swelling of legs and general weakness. Related conditions are bacterial pericarditis, pericarditis and pericarditis after a heart attack.[1]
## Causes[edit]
The cause of constrictive pericarditis in the developing world are idiopathic in origin, though likely infectious in nature. In regions where tuberculosis is common, it is the cause in a large portion of cases.[3]
Tuberculosis-x-ray
Causes of constrictive pericarditis include:
* Tuberculosis[4]
* Incomplete drainage of purulent pericarditis[4]
* Fungal and parasitic infections[4]
* Chronic pericarditis[4]
* Postviral pericarditis[4]
* Postsurgical[4]
* Following MI, post-myocardial infarction[4]
* In association with pulmonary asbestos[5]
## Pathophysiology[edit]
The pathophysiological characteristics of constrictive pericarditis are due to a thickened, fibrotic pericardium that forms a non-compliant shell around the heart. This shell prevents the heart from expanding when blood enters it. This results in significant respiratory variation in blood flow in the chambers of the heart.[6]
During inspiration, pressure in the thoracic cavity decreases but is not relayed to the left atrium, subsequently a reduction in flow to the left atrium and ventricle happens. During diastole, less blood flow in left ventricle allows for more room for filling in right ventricle and therefore a septal shift occurs.[7]
During expiration, the amount of blood entering the left ventricle will increase, allowing the interventricular septum to bulge towards the right ventricle, decreasing the right heart ventricular filing.[8]
## Diagnosis[edit]
The diagnosis of constrictive pericarditis is often difficult to make. In particular, restrictive cardiomyopathy has many similar clinical features to constrictive pericarditis, and differentiating them in a particular individual is often a diagnostic dilemma.[9]
* Chest X-Ray \- pericardial calcification (common but not specific), pleural effusions are common findings.[10]
* Echocardiography \- the principal echographic finding is changes in cardiac chamber volume.[10]
* CT and MRI \- CT scan is useful in assessing the thickness of pericardium, calcification, and ventricular contour. Cardiac MRI may find pericardial thickening and pericardial-myocardial adherence. Ventricular septum shift during breathing can also be found using cardiac MRI. Late gadolinium enhancement can show enhancement of the pericardium due to fibroblast proliferation and neovascularization.[8]
* BNP blood test - tests for the existence of the cardiac hormone brain natriuretic peptide, which is only present in restrictive cardiomyopathy but not in constrictive pericarditis[11]
* Conventional cardiac catheterization[12]
* Physical examination - can reveal clinical features including Kussmaul's sign and a pericardial knock.[12]
## Treatment[edit]
The definitive treatment for constrictive pericarditis is pericardial stripping, which is a surgical procedure where the entire pericardium is peeled away from the heart. This procedure has significant risk involved,[13] with mortality rates of 6% or higher in major referral centers.[14]
A poor outcome is almost always the result after a pericardiectomy is performed for constrictive pericarditis whose origin was radiation-induced, further some patients may develop heart failure post-operatively.[15]
## References[edit]
1. ^ a b c d e f g "Contrictive pericarditis". Medline Plus. NIH. Retrieved 21 September 2015.
2. ^ Schwefer, Markus; Aschenbach, Rene; Heidemann, Jan; Mey, Celia; Lapp, Harald (September 2009). "Constrictive pericarditis, still a diagnostic challenge: comprehensive review of clinical management". European Journal of Cardio-Thoracic Surgery. 36 (3): 502–510. doi:10.1016/j.ejcts.2009.03.004. PMID 19394850.
3. ^ Dunn, editor, Brian P. Griffin; associate editors, Thomas D. Callahan, Venu Menon; guest editors, Willis M. Wu, Clay A. Cauthen, Justin M. (2013). Manual of cardiovascular medicine (4th ed.). Philadelphia: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 653. ISBN 978-1-4511-3160-4. Retrieved 21 September 2015.CS1 maint: extra text: authors list (link)
4. ^ a b c d e f g "Constritive pericarditis". eMedicine. MedScape. Retrieved 21 September 2015.
5. ^ Lloyd, editors-in-chief, Joseph G. Murphy, Margaret A. (2013). Mayo Clinic cardiology : concise textbook (4th ed.). Oxford: Mayo Clinic Scientific Press/Oxford University Press. p. 718. ISBN 978-0-199915712. Retrieved 21 September 2015.CS1 maint: extra text: authors list (link)
6. ^ Crouch, [edited by] Michael A. (2010). Cardiovascular pharmacotherapy : a point-of-care guide. Bethesda, Md.: American Society of Health-System Pharmacists. p. 376. ISBN 978-1-58528-215-9. Retrieved 21 September 2015.CS1 maint: extra text: authors list (link)
7. ^ Camm, Demosthenes G. Katritsis, Bernard J. Gersh, A. John (2013). Clinical cardiology : current practice guidelines (1st ed.). Oxford: Oxford University Press. p. 388. ISBN 978-0-19-968528-8. Retrieved 21 September 2015.
8. ^ a b Welch, Terrence D.; Oh, Jae K. (November 2017). "Constrictive Pericarditis". Cardiology Clinics. 35 (4): 539–549. doi:10.1016/j.ccl.2017.07.007. PMID 29025545.
9. ^ "Restrictive pericarditis". eMedicine. MedScape. Retrieved 21 September 2015.
10. ^ a b "Imaging in Constrictive pericarditis". eMedicine. MedScape. Retrieved 21 September 2015.
11. ^ Semrad, Michal (2014). Cardiovascular Surgery. Charles University. p. 114. ISBN 978-80-246-2465-5. Retrieved 21 September 2015.
12. ^ a b Khandaker, Masud H.; Espinosa, Raul E.; Nishimura, Rick A.; Sinak, Lawrence J.; Hayes, Sharonne N.; Melduni, Rowlens M.; Oh, Jae K. (June 2010). "Pericardial Disease: Diagnosis and Management". Mayo Clinic Proceedings. 85 (6): 572–593. doi:10.4065/mcp.2010.0046. PMC 2878263. PMID 20511488.
13. ^ Cinar B, Enc Y, Goksel O, Cimen S, Ketenci B, Teskin O, Kutlu H, Eren E (2006). "Chronic constrictive tuberculous pericarditis: risk factors and outcome of pericardiectomy". Int J Tuberc Lung Dis. 10 (6): 701–6. PMID 16776460.
14. ^ Chowdhury UK, Subramaniam GK, Kumar AS, Airan B, Singh R, Talwar S, Seth S, Mishra PK, Pradeep KK, Sathia S, Venugopal P (2006). "Pericardiectomy for constrictive pericarditis: a clinical, echocardiographic, and hemodynamic evaluation of two surgical techniques". Ann Thorac Surg. 81 (2): 522–9. doi:10.1016/j.athoracsur.2005.08.009. PMID 16427843.
15. ^ Greenberg, editors, Jeffrey D. Hosenpud, Barry H. (2007). Congestive heart failure (3rd ed.). Philadelphia: Lippincott Williams & Wilkins. p. 410. ISBN 978-0-7817-6285-4. Retrieved 21 September 2015.CS1 maint: extra text: authors list (link)
## Further reading[edit]
* Smiseth, Otto A.; (eds.), Michał Tendera (2008). Diastolic heart failure. London: Springer. ISBN 978-1-84628-890-6. Retrieved 21 September 2015.CS1 maint: extra text: authors list (link)
* Hoit, B. D. (25 June 2002). "Management of Effusive and Constrictive Pericardial Heart Disease". Circulation. 105 (25): 2939–2942. doi:10.1161/01.CIR.0000019421.07529.C5. PMID 12081983. Retrieved 21 September 2015.
## External links[edit]
Classification
D
* ICD-10: I31.1
* ICD-9-CM: 423.2
* MeSH: D010494
External resources
* MedlinePlus: 001103
* eMedicine: article/157096
Scholia has a topic profile for Constrictive pericarditis.
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Constrictive pericarditis
|
c0031048
| 28,233 |
wikipedia
|
https://en.wikipedia.org/wiki/Constrictive_pericarditis
| 2021-01-18T19:05:07 |
{"mesh": ["D010494"], "umls": ["C0031048"], "icd-10": ["I31.1"], "wikidata": ["Q3049292"]}
|
MacKay et al. (1987) described a seemingly 'new' autosomal recessive syndrome, a progressive pigmentary retinal degeneration, characterized by nyctalopia, visual field restriction, and cystic macular degeneration in younger patients and a macula of nonspecific atrophic appearance in older patients. Seven patients in 1 family were affected. Each patient had hyperlopia and nanophthalmos with diffuse scleroidal thickening on ultrasound. Younger patients had slitlike anterior chamber angles; older patients developed progressive synechial angle closure and eventual glaucoma. On electroretinography, younger patients had absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times. Older patients had severely diminished or extinguished electroretinograms. Four brothers in 1 sibship were affected; one of the brothers, married to a first cousin, had 3 affected children out of 4, including identical twins.
Eyes \- Progressive pigmentary retinal degeneration \- Nyctalopia \- Visual field restriction \- Cystic macular degeneration \- Macular atrophy \- Hyperlopia \- Nanophthalmos \- Slitlike anterior chamber angles in children \- Progressive synechial angle closure \- Glaucoma Lab \- Diffuse scleroidal thickening on eye ultrasound \- ERG shows absent rod signals, with normal cone wave form and near-normal b-wave amplitudes but markedly delayed cone b-wave implicit times, progressing to severely diminished or extinguished electroretinograms Inheritance \- Autosomal recessive ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
RETINAL DEGENERATION WITH NANOPHTHALMOS, CYSTIC MACULAR DEGENERATION, AND ANGLE CLOSURE GLAUCOMA
|
c2931831
| 28,234 |
omim
|
https://www.omim.org/entry/267760
| 2019-09-22T16:22:43 |
{"mesh": ["C538364"], "omim": ["267760"], "orphanet": ["1574"]}
|
Atypical lichen myxedematosus
Other namesIntermediate lichen myxedematosus[1]
SpecialtyDermatology
Atypical lichen myxedematosus is a skin condition caused by fibroblasts producing abnormally large amounts of mucopolysaccharides.[2]:186
## See also[edit]
* Lichen myxedematosus
* Skin lesion
## References[edit]
1. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Atypical lichen myxedematosus". www.orpha.net. Retrieved 18 April 2019.
2. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
## External links[edit]
Classification
D
* ICD-10: L98.5
External resources
* Orphanet: 86797
* v
* t
* e
Mucinosis/Lichen myxedematosus
Localized lichen myxedematosus
* Discrete papular lichen myxedematosus
* Acral persistent papular mucinosis
* Self-healing papular mucinosis/Self-healing juvenile cutaneous mucinosis
* Papular mucinosis of infancy
* Atypical lichen myxedematosus
* Atypical tuberous myxedema
* Nodular lichen myxedematosus
Other primary mucinoses
* Cutaneous focal mucinosis
* Cutaneous lupus mucinosis
* Eccrine mucinosis
* Alopecia mucinosa
* Perifollicular mucinosis
* Stiff skin syndrome
* Generalized lichen myxedematosus
Secondary mucinoses
* Basal-cell carcinoma
* Granuloma annulare
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Atypical lichen myxedematosus
|
c4510874
| 28,235 |
wikipedia
|
https://en.wikipedia.org/wiki/Atypical_lichen_myxedematosus
| 2021-01-18T18:45:08 |
{"orphanet": ["86797"], "synonyms": ["Intermediate lichen myxedematosus"], "wikidata": ["Q4818892"]}
|
For a general phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease, see 104300.
Clinical Features
Guerreiro et al. (2013) performed pathologic examination of 5 brains from individuals carrying possibly pathogenic variants in the TREM2 gene (605086). All had fully developed Alzheimer disease and had typical findings with no distinguishing features. Two carriers of the R47H variant (rs75932628) showed pathologic features of Alzheimer disease in the form of mature and diffuse plaques. Severe cerebral amyloid angiopathy was evident with the presence of parenchymal capillary involvement and circumferential deposition of beta-amyloid (104760). Neuritic plaques, neurofibrillary tangles, and abundant neuropil threads were also present. A carrier of the D87N variant (rs142232675) had mature plaques along with more diffuse plaques and a moderate degree of cerebral amyloid angiopathy, all typical features of Alzheimer disease.
Mapping
Jonsson et al. (2013) studied the genome sequences of 2,261 Icelanders and identified sequence variants that were likely to affect protein function, and then imputed these variants to the genomes of patients with Alzheimer disease and control participants and tested for association. Jonsson et al. (2013) performed replication tests using case control series from the United States, Norway, the Netherlands, and Germany, and subsequently tested for a genetic association with cognitive function in a population of unaffected elderly persons. A rare missense mutation, rs75932628T (R47H), in the gene encoding TREM2 (605086) on chromosome 6p21.2 was responsible for a significant risk of Alzheimer disease in Iceland (odds ratio, 2.92; 95% confidence interval, 2.09 to 4.09; p = 3.42 x 10(-10)). The mutation had a frequency of 0.46% in controls 85 years of age or older. This association was observed in additional sample sets (odds ratio = 2.90; 95% confidence interval, 2.16-3.91; p = 2.1 x 10(-12) combined discovery and replication samples). Jonsson et al. (2013) found that carriers of rs75932628T between the ages of 80 and 100 years without Alzheimer disease had poorer cognitive function than noncarriers (p = 0.003). Jonsson et al. (2013) concluded that their findings strongly implicated variant TREM2 in the pathogenesis of Alzheimer disease and, given the reported antiinflammatory role of TREM2 in the brain, the R47H substitution may lead to an increased predisposition to Alzheimer disease through impaired containment of inflammatory processes.
Because homozygous loss-of-function mutations in TREM2 had been associated with an autosomal recessive form of early-onset dementia (see 221770), Guerreiro et al. (2013) used genome, exome, and Sanger sequencing to analyze the genetic variability in TREM2 in a series of 1,092 patients with Alzheimer disease and 1,107 controls (the discovery set). They then performed a metaanalysis on imputed data for the TREM2 variant rs75932628 from 3 genomewide association studies of Alzheimer disease and tested for the association of the variant with the disease. Guerreiro et al. (2013) found significantly more variants in exon 2 of TREM2 in patients with Alzheimer disease than in controls in the discovery set (p = 0.02). There were 22 variant alleles in 1,092 patients with Alzheimer disease and 5 variant alleles in 1,107 controls (p less than 0.001). The most commonly associated variant, rs75932628, showed a highly significant association with Alzheimer disease (p less than 0.001). Metaanalysis of rs75932628 genotypes imputed from genomewide association studies confirmed this association (p = 0.002), as did direct genotyping of an additional series of 1,887 patients with Alzheimer disease and 4,061 controls (p less than 0.001). TREM2 expression differed between control mice in the mouse model of Alzheimer disease. Guerreiro et al. (2013) identified 22 variants in exon 2, 6 of which were not identified among controls. Of these variants, rs142232675T (D87N) was associated with disease (p = 0.02).
Several groups commented on the studies of Guerreiro et al. (2013) and Jonsson et al. (2013). Reitz and Mayeux (2013) examined the TREM2 gene for association with Alzheimer disease in their cohort from the Alzheimer's Disease Genetics Consortium, which included multiple datasets from a total of 5896 black patients (1,968 cases and 3,928 controls). The SNP rs75932628 reported by Guerreiro et al. (2013) and Jonsson et al. (2013) did not pass quality control; however, another SNP in linkage disequilibrium, rs7748513, was significantly associated with Alzheimer disease (p = 0.001). Bertram et al. (2013) genotyped the rs75932628 T allele in 6,421 samples from family-based and case-control data sets. A metaanalysis that combined sample-specific results revealed weak, but nominally significant, support of an association between the T allele at rs75932628 and an increased risk of Alzheimer disease (p less than or equal to 0.05). The effect size found in their study suggested a substantially lower odds ratio of approximately 1.7. Bertram et al. (2013) concluded that the tiny population effect and reduced penetrance of the T allele at rs75932628 in TREM2 limits its usefulness as either a predictor or diagnostic for Alzheimer disease. Rajagopalan et al. (2013) mapped the effects on the brain of the risk allele of rs9394721, a proxy (r(2) = 0.492) of the risk variant of rs75932628 in TREM2, in a cohort of 478 elderly individuals (283 men and 195 women; 100 participants had Alzheimer disease, 221 had mild cognitive impairment, and 157 were healthy controls). The TREM2 mutation carriers annually (over 24 months) lost 1.4 to 3.3% more brain tissue than noncarriers in a pattern that mirrored the profile of Alzheimer disease in the brain. Mutation carriers lost brain tissue twice as fast as healthy elderly people. Benitez and Cruchaga (2013) found an association of the R47H variant (rs75932628T) with Parkinson disease among 1,132 patients with Parkinson disease and 1,387 controls. Bird (2013) noted that in 1983 he and colleagues suggested a possible relationship between Nasu-Hakola disease (221770) and Alzheimer disease, based on the finding of a mutation in TREM2 in a family with Nasu-Hakola disease and an abundance of senile plaques and neurofibrillary tangles in a 48-year-old member of that family. Jonsson and Stefansson (2013) replied to these comments. They were not able to replicate the findings of Benitez and Cruchaga (2013) in an Icelandic population. Guerreiro and Hardy (2013) also replied.
### Association with TREML2
Benitez et al. (2014) reported comprehensive analyses using whole-exome sequencing data, cerebrospinal fluid biomarker analyses, metaanalyses (16,254 cases of Alzheimer disease and 20,052 controls), and cell-based functional studies to support the role of the TREML2 (609715) coding missense variant S144G (rs3747742) as a potential driver of the metaanalysis Alzheimer disease-associated genomewide association studies signal. Additionally, Benitez et al. (2014) demonstrated that the protective role of TREML2 in Alzheimer disease is independent of the role of the TREM2 gene (605086) as a risk factor for the disease.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
ALZHEIMER DISEASE 17
|
c3554452
| 28,236 |
omim
|
https://www.omim.org/entry/615080
| 2019-09-22T15:53:14 |
{"omim": ["615080"], "synonyms": ["Alternative titles", "ALZHEIMER DISEASE 17, LATE-ONSET"]}
|
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation type IIl (CDG2L) is caused by homozygous or compound heterozygous mutation in the COG6 gene (606977) on chromosome 13q14.
Homozygous mutation in the COG6 gene can also cause Shaheen syndrome (SHNS; 615328), which shows overlapping clinical features.
Description
CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).
For a general discussion of CDGs, see CDG1A (212065) and CDG2A (212066).
Clinical Features
Lubbehusen et al. (2010) reported a female infant, born of nonconsanguineous Turkish parents, with a severe neurologic disorder resulting in death at 5 weeks of age. At birth, she showed intractable focal seizures, vomiting, and loss of consciousness due to intracranial bleeding resulting in part from a vitamin K deficiency. Laboratory studies showed mildly increased lactate, aspartate aminotransferase, and creatine kinase. Family history revealed 2 other children who died in the perinatal period with signs of an increased bleeding tendency.
Huybrechts et al. (2012) reported a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L. At birth, she was noted to have dysmorphic features, including microcephaly, postaxial polydactyly, broad palpebral fissures, retrognathia, and anal anteposition. During the first months of life, she had recurrent infections, diarrhea, and failure to thrive, and was found to have a primary combined immunodeficiency with hypogammaglobulinemia and defective cellular immunity without lymphopenia. Granulocyte function was also abnormal. She later developed multisystem abnormalities, including hepatomegaly, abnormal liver enzymes, micronodular cirrhosis, macrovesicular steatosis, axial hypotonia, mild neurodevelopmental delay, proximal tubulopathy, and inflammatory bowel disease. Serum transferrin isoelectric focusing was abnormal, showing a type II pattern. Rymen et al. (2015) reported follow-up of this patient. She continued to have recurrent infections, chronic gastrointestinal inflammation and malabsorption, failure to thrive, hepatomegaly with elevated liver enzymes, and renal tubulopathy, all of which contributed to death at age 6 years.
Rymen et al. (2015) reported 7 additional patients with CDG2L, including the sister and 2 sib cousins of the patient reported by Lubbehusen et al. (2010). The sib cousins (P4.1 and P4.2) were said to be born of parents from Morocco; 3 patients were Turkish and 1 was from Bulgaria. Some of the pregnancies showed decreased fetal movements and were complicated by oligo- or polyhydramnios. The patients presented in the first months of life with neonatal hypotonia, failure to thrive, severely delayed psychomotor development, and nonspecific dysmorphic features. Other common features included liver involvement with hepatosplenomegaly, cholestasis, elevated liver enzymes, hyperbilirubinemia, and fibrosis or cirrhosis, as well as chronic diarrhea, enteropathy, microcephaly, cardiac septal defects, recurrent infections, hypohidrosis, and hyperkeratosis. One patient had arthrogryposis, clubfeet, and hip dysplasia, and another had postaxial polydactyly. Brain imaging was abnormal in some patients, showing hypoplasia of the corpus callosum, cortical atrophy, enlarged ventricles, and cerebellar atrophy. One patient had abnormal gyration. Several patients had thrombocytopenia, anemia, pancytopenia, and/or coagulation defects with bleeding episodes. Two patients had intractable seizures. Five of the 7 patients died in the first days or weeks of life. Two patients were still alive at ages 21 and 12 years. The 12-year-old girl learned to sit without support, but was never able to walk. She developed stereotypic movements of the hands and self-aggressive behavior and had recurrent infections. A sister was born with similar clinical features; she died at age 15 months. All patients studied showed a type 2 CDG pattern on serum transferrin analysis.
Biochemical Features
Isoelectric focusing of serum transferrin from the patient reported by Lubbehusen et al. (2010) showed transferrin molecules with 4, 3, 2, 1, or no sialic acid residues, consistent with CDG type II. Partial loss of sugar residues of N-glycans was demonstrated by Western blot analysis of serum transferrin, and further analysis of the transferrin-linked N-glycans showed complete or partial loss of galactose and neuraminic acid residues. Isoelectric focusing of alpha-1-antitrypsin and apolipoprotein CIII indicated a combined defect of N- and O-glycosylation. Western blot analysis of COG subunits showed decreased COG5 (55%), COG6 (21%), and COG7 (62%).
Inheritance
Congenital disorder of glycosylation in the family reported by Lubbehusen et al. (2010) was transmitted in an autosomal recessive manner.
Molecular Genetics
In a patient with fatal congenital disorder of glycosylation type IIl, Lubbehusen et al. (2010) identified a homozygous mutation in the COG6 gene (G549V; 606977.0001). Northern blot analysis showed reduced COG6 mRNA (15% of controls), indicating instability of the mutant transcript. Retroviral gene transfer of wildtype COG6 corrected COG complex defects in patient fibroblasts.
Huybrechts et al. (2012) found homozygosity for the G549V mutation in the COG6 gene in a 27-month-old girl, born of consanguineous Moroccan parents, with CDG2L.
In 6 patients, including 2 sibs, with CDG2L, Rymen et al. (2015) identified homozygous or compound heterozygous mutations in the COG6 gene (see, e.g., 606977.0001; 606977.0003-606977.0006). The mutations were found by whole-exome sequencing and confirmed by Sanger sequencing and/or by targeted sequencing of CDG gene panels. Functional studies of the variants and studies of patient cells were not performed, but the variants were predicted to result in a loss of function. DNA from a seventh patient was not available.
INHERITANCE \- Autosomal recessive GROWTH Other \- Intrauterine growth retardation \- Failure to thrive HEAD & NECK Head \- Microcephaly Face \- Dysmorphic facial features, nonspecific, variable \- Retrognathia Eyes \- Broad palpebral fissures \- Epicanthal fold CARDIOVASCULAR Heart \- Congenital septal defects (in some patients) ABDOMEN Liver \- Hepatomegaly \- Cholestasis \- Micronodular cirrhosis \- Macrovesicular steatosis Spleen \- Splenomegaly Gastrointestinal \- Diarrhea, recurrent \- Enteropathy \- Inflammatory bowel disease \- Anal anteposition (rare) GENITOURINARY Kidneys \- Proximal tubulopathy (rare) SKELETAL Hands \- Postaxial polydactyly (rare) SKIN, NAILS, & HAIR Skin \- Hyperkeratosis \- Hypohidrosis MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Seizures (in some patients) \- Cerebral atrophy \- Enlarged ventricles HEMATOLOGY \- Anemia \- Thrombocytopenia \- Pancytopenia \- Coagulation defects \- Abnormal bleeding \- Hyperbilirubinemia IMMUNOLOGY \- Recurrent infections \- Primary combined immunodeficiency \- Hypogammaglobulinemia \- T-cell dysfunction \- Granulocyte dysfunction LABORATORY ABNORMALITIES \- Abnormal isoelectric focusing of serum transferrin (type 2 pattern) \- Abnormal liver enzymes MISCELLANEOUS \- Onset at birth \- Death in infancy often occurs \- Variable severity and manifestations MOLECULAR BASIS \- Caused by mutation in the component of oligomeric Golgi complex 6 gene (COG6, 606977.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
|
c3553230
| 28,237 |
omim
|
https://www.omim.org/entry/614576
| 2019-09-22T15:54:51 |
{"doid": ["0070264"], "omim": ["614576"], "orphanet": ["464443"], "synonyms": ["CDG IIl", "Congenital disorder of glycosylation type IIL", "CDG syndrome type IIL", "Alternative titles", "CDG-IIL", "Congenital disorder of glycosylation type 2l", "CDG2L"]}
|
LEOPARD syndrome is an inherited condition characterized by abnormalities of the skin, heart, inner ears, and genitalia. The acronym LEOPARD describes the features of the syndrome:
(L)entigines \- dark spots on the skin
(E)lectrocardiographic conduction defects \- abnormalities of the electrical activity of the heart
(O)cular hypertelorism - widely spaced eyes
(P)ulmonary stenosis \- obstruction of the normal outflow of blood from the right ventricle of the heart
(A)bnormalities of the genitalia
(R)etarded (slowed) growth resulting in short stature
(D)eafness
There are 3 types of LEOPARD syndrome, which are distinguished by their genetic cause. Type 1 is caused by mutations in the PTPN11 gene; type 2 is caused by mutations in the RAF1 gene; and type 3 is caused by mutations in the BRAF gene. Other cases are caused by mutations in the MAP2K1 gene, and in some cases the cause is unknown. LEOPARD syndrome is inherited in an autosomal dominant manner. It can be inherited from an affected parent, or it can be due to a new mutation in a person with no family history of the condition.
Leopard syndrome belongs to a group of related conditions called the RASopathies. These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
LEOPARD syndrome
|
c0175704
| 28,238 |
gard
|
https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome
| 2021-01-18T17:59:28 |
{"mesh": ["D044542"], "omim": ["151100", "611554", "613707"], "orphanet": ["500"], "synonyms": ["Lentigines, Electrocardiographic conduction abnormalities, Ocular hypertelorism, Pulmonic stenosis, Abnormal genitalia, Retardation of growth, Deafnes", "Multiple lentigines syndrome", "Cardiomyopathic lentiginosis", "Noonan syndrome with multiple lentigines"]}
|
A number sign (#) is used with this entry because the premature chromatid separation (PCS) trait is caused by heterozygous mutation in the mitotic checkpoint gene BUB1B (602860) on chromosome 15q15.
See also mosaic variegated aneuploidy (MVA; 257300), which is a severe autosomal recessive developmental disorder caused by biallelic mutations in the BUB1B gene. MVA occurs when the offspring of 2 parents heterozygous for the PCS trait inherits both mutant BUB1B alleles.
Description
Premature chromatid separation consists of separate and splayed chromatids with discernible centromeres and involves all or most chromosomes of a metaphase. It is found in up to 2% of metaphases in cultured lymphocytes from approximately 40% of normal individuals. When PCS is present in 5% or more of cells, it is known as the 'heterozygous PCS trait' and has no obvious phenotypic effect, although some have reported decreased fertility (Gabarron et al., 1986). Inheritance is autosomal codominant (Kajii and Ikeuchi, 2004).
See also 158250 for a possible inherited predisposition to nondisjunction, which may be a related phenomenon.
Nomenclature
Kajii et al. (1998) referred to this condition as 'total premature chromatid separation' (total PCS) because the phenomenon involves not only the centromeres but also the entire chromatids.
As noted by Kajii and Ikeuchi (2004), 'premature chromatid separation (PCS)' is sometimes incorrectly referred to as 'premature centromere division (PCD).' PCD is a distinct entity; see 212790. Several references listed in this entry (e.g., Rudd et al., 1983; Gabarron et al., 1986) have incorrectly used the designation PCD when referring to PCS. To avoid confusion, we have changed the designation to PCS in our discussion of these references.
Clinical Features
Rudd et al. (1983) observed an increased frequency of mitoses with separated centromeres and splayed chromatids in the presence of colcemid in short-term lymphocyte cultures from 3 unrelated persons. The individuals were referred for chromosome studies: a 27-year-old woman with recurrent early spontaneous abortion; a 24-year-old male who had cancer radiotherapy for seminoma of the testes; and a 28-year-old woman with infertility. Whereas control cell cultures showed 0.5% to 1% mitosed demonstrating premature separation, cells from the probands and their affected family members showed 5% to 61.5% premature separation. In 2 of the 3 patients, the frequency of premature separation was reduced when colcemid was omitted but was still higher than in controls. Cultured fibroblasts from the third patient, whose cells showed no reduction with colcemid, exhibited increased tetraploidy and multinucleated cells. Cinematography of cell cultures showed a shortened metaphase time. Similar studies performed on multiple family members of each proband showed that transmission in each of the families was consistent with autosomal dominant inheritance; male-to-male transmission was shown in 3 instances in 2 families. Rudd et al. (1983) noted that the phenomenon was similar to that of PCD (212790), which is often found in phenotypically normal women.
Mehes (1978) investigated early centromere separation in 12 normal children, 14 patients with Down syndrome (190685), and 12 parents of children with autosomal trisomies. Mehes (1978) suggested that nonrandom centromere division may be a mechanism of nondisjunction.
Fitzgerald et al. (1986) reported a clinically normal 28-year-old woman who had 3 conceptuses with trisomy 21 and 1 normal child. Laboratory studies showed minimal evidence of mosaicism: 4% of blood cells and 6% of skin fibroblasts had trisomy 21. Also, 7% of her blood cells showed aneuploidy of the X chromosome which was associated with premature centromere separation of the X; 6% of fibroblasts showed trisomy 18; 10% of fibroblasts showed premature centromere separation of chromosome 21; 1% of fibroblasts showed PCS of chromosome 18. Since it was unlikely that this woman was a constitutional mosaic for trisomies X, 18, and 21, all at low levels, the authors suggested she was liable to PCS especially of those chromosomes.
Gabarron et al. (1986) reported a Spanish woman referred for chromosome analysis following 5 spontaneous abortions, 4 of which occurred in the first trimester. Other than short stature, the phenotype was unremarkable. Laboratory studies found premature chromatid separation in lymphocyte cultures from the proband, her mother, and a son and daughter, consistent with autosomal dominant inheritance. PCS was observed both in the presence and in the absence of colchicine. Cultured fibroblasts from the proband, on the other hand, showed only normal diploid metaphases. PCS cells appeared to have a shorter cell cycle.
Madan et al. (1987) described a family with 4 phenotypically normal persons in 3 successive generations who had an increased frequency of cells with premature centromere division of all chromosomes. PCS was observed in approximately 4 to 12% of cells. The phenomenon was considered to be different from the PCD of the X chromosome, and from the centromere splitting in cells of patients with Roberts syndrome (268300).
Bajnoczky and Mehes (1988) described 'out-of phase' centromere separation of the relevant chromosome, either early separation or late separation, in parents of offspring with trisomy 18 and trisomy 21. The findings provided further evidence for the correlation between alteration of parental centromere separation and aneuploidy in the offspring.
While evaluating individual mitoses for centromere separation, Mehes and Kosztolanyi (1992) found unusually late separation of chromosome 18 in a few cells of one of the parents in each of 3 families with a neonate with trisomy 18. The authors suggested that possible germline mosaicism of delayed separation in the parent might account for trisomy in the offspring. Chromosome 18 is normally the first to separate; chromosomes 2, 4, 5, 12, 17, and X also divide very early, whereas chromosomes 1, 11, 16, Y, and acrocentrics are the last to separate.
In both members of an ostensibly healthy but childless couple, Bajnoczky and Gardo (1993) found an increased frequency of mitoses with centromere separation affecting all chromosomes in lymphocyte cultures. The 37-year-old wife had had 3 spontaneous abortions in the first trimester. The authors suggested that the abnormal behavior of centromeres may have predisposed to cell division errors with spontaneous abortion as a consequence. The abnormality was referred to as 'premature anaphase.'
Mehes (1993) observed late division of chromosome 12 in a father and daughter and early separation in a father and son. However, this phenomenon may be only biologic variation with chance correlation across generations.
Petkovic (2007) reported a 3-generation family with autosomal dominant inheritance of PCS. Cytogenetic studies on peripheral blood lymphocytes demonstrated PCS frequency of 8.5% to 13.5% in 4 affected members. The 42-year-old proband and her 23-year-old son developed carcinoma in situ of the uterine cervix and keratoacanthoma, respectively. Both tumors were successfully treated surgically without chemotherapy or radiation and without recurrence. Petkovic (2007) suggested a possible association between the tumors and the PCS trait. No molecular studies were performed.
Diagnosis
### Prenatal Diagnosis
Kajii and Asamoto (2004) reported prenatal diagnosis of a heterozygous carrier of the premature chromatid separation trait. The parents of 2 infants born with the homozygous PCS trait, or MVA syndrome, underwent chromosomal analysis. The father and mother had 6.5% and 16% PCS in cultured lymphocytes, respectively, consistent with heterozygosity for the PCS trait. Amniocentesis at 16 weeks in a subsequent pregnancy showed 4.5% cells in PCS and a nonmosaic 46,XY karyotype, also consistent with a heterozygous carrier of the PCS trait. A male infant was born with no malformations and no brain abnormalities. Cultured cord blood lymphocytes showed 16% cells in PCS.
Molecular Genetics
In a patient with MVA syndrome who was compound heterozygous for mutations in the BUB1B gene, Hanks et al. (2004) found that one mutation was inherited from the father and the other from the mother; both parents had PCS (see 602860.0009).
INHERITANCE \- Autosomal dominant LABORATORY ABNORMALITIES \- Premature chromatid separation (PCS) observed in 5% to 50% cultured lymphocytes during metaphase \- PCS shows separate and splayed chromatids with discernible centromeres \- PCS involves most of all chromosomes of a metaphase \- Shortened metaphase MISCELLANEOUS \- Individuals with the PCS trait are phenotypically normal \- Affected females may have increased spontaneous abortions \- Reduced fertility \- Possible increase of aneuploidy in offspring \- See also the homozygous state, mosaic variegated aneuploidy (MVA, 257300 ) \- PCS is a distinct disorder from premature centromere division (PCD, 212790 ), which affects only the X chromosome MOLECULAR BASIS \- Caused by mutation in the BUB1 mitotic checkpoint serine/threonine kinase B gene (BUB1B, 602860.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
PREMATURE CHROMATID SEPARATION TRAIT
|
c1864389
| 28,239 |
omim
|
https://www.omim.org/entry/176430
| 2019-09-22T16:35:55 |
{"omim": ["176430"], "synonyms": ["Alternative titles", "TOTAL PREMATURE CHROMATID SEPARATION TRAIT"]}
|
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
|
c3281223
| 28,240 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=504476
| 2021-01-23T19:01:26 |
{"omim": ["614575"], "icd-10": ["G60.8"], "synonyms": ["CABV syndrome", "CANVAS", "Cerebellar ataxia with bilateral vestibulopathy syndrome"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive osteopetrosis-1 (OPTB1) is caused by homozygous or compound heterozygous mutation in the TCIRG1 subunit (604592) of the vacuolar proton pump on chromosome 11q13.
Description
Osteopetrosis (OPT) is a life-threatening disease caused by subnormal osteoclast function, with an incidence of 1 in 250,000 births. The disease usually manifests in the first few months of life with macrocephaly and frontal bossing, resulting in a characteristic facial appearance. Defective bone remodeling of the skull results in choanal stenosis with concomitant respiratory problems and feeding difficulties, which are the first clinical manifestation of disease. The expanding bone encroaches on neural foramina, leading to blindness, deafness, and facial palsy. Complete visual loss invariably occurs in all untreated patients, and hearing loss is estimated to affect 78% of patients with OPT. Tooth eruption defects and severe dental caries are common. Calcium feedback hemostasis is impaired, and children with OPT are at risk of developing hypocalcemia with attendant tetanic seizures and secondary hyperparathyroidism. The most severe complication of OPT, limiting survival, is bone marrow insufficiency. The abnormal expansion of cortical and trabecular bone physically limits the availability of medullary space for hematopoietic activity, leading to life-threatening cytopenia and secondary expansion of extramedullary hematopoiesis at sites such as the liver and spleen (summary by Aker et al., 2012).
### Genetic Heterogeneity of Autosomal Recessive Osteopetrosis
Other forms of autosomal recessive infantile malignant osteopetrosis include OPTB4 (611490), which is caused by mutation in the CLCN7 gene (602727) on chromosome 16p13, and OPTB5 (259720), which is caused by mutation in the OSTM1 gene (607649) on chromosome 6q21. A milder, osteoclast-poor form of autosomal recessive osteopetrosis (OPTB2; 259710) is caused by mutation in the TNFSF11 gene (602642) on chromosome 13q14, an intermediate form (OPTB6; 611497) is caused by mutation in the PLEKHM1 gene (611466) on chromosome 17q21, and a severe osteoclast-poor form associated with hypogammaglobulinemia (OPTB7; 612301) is caused by mutation in the TNFRSF11A gene (603499) on chromosome 18q22. Another form of autosomal recessive osteopetrosis (OPTB8; 615085) is caused by mutation in the SNX10 gene (614780) on chromosome 7p15. A form of autosomal recessive osteopetrosis associated with renal tubular acidosis (OPTB3; 259730) is caused by mutation in the CA2 gene (611492) on chromosome 8q21.
Autosomal dominant forms of osteopetrosis are more benign (see OPTA1, 607634).
Clinical Features
Patients with osteopetrosis display macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy or in fetal life. Deafness and blindness are generally thought to represent effects of pressure on nerves. (Keith (1968) presented evidence he interpreted as indicating that primary retinal atrophy, not optic atrophy from nerve pressure, occurs in osteopetrosis.) The anemia is caused by encroachment of bone on marrow, resulting in obliteration, and the hepatosplenomegaly is caused by compensatory extramedullary hematopoiesis. The condition results from defective resorption of immature bone. Prenatal diagnosis is possible by x-ray. Enell and Pehrson (1958) described 2 sibs and a cousin affected with the early severe form in a highly inbred kindred. In 2 Palestinian Muslim families that lived in the same village, Dudin and Rambaud-Cousson (1993) found 7 cases of lethal infantile osteopetrosis. In 2 of the 7 persons, short-segment Hirschsprung disease (142623), a probably independent disorder, was also present.
Orchard et al. (1992) found that the serum of 13 patients with what they termed malignant osteopetrosis showed radioimmunoassay levels of CSF1 equal to or higher than control serum. In addition, serum from 6 osteopetrotic patients was tested in a bioassay to determine if the CSF1 present was biologically active; in all cases there was demonstrable activity in these samples.
Diagnosis
### Prenatal Diagnosis
Ogur et al. (1995) established the prenatal diagnosis of osteopetrosis at 25 weeks of pregnancy by fetal x-ray evaluation which showed typical changes.
Clinical Management
The occurrence of hypocalcemia and even tetany in cases of osteopetrosis is consistent with a thyrocalcitonin disorder. Moe and Skjaeveland (1969) described beneficial effects of cortisone.
Performing bone marrow transplant (BMT) from an HLA-MLC identical brother, Coccia et al. (1980) demonstrated, in an infant with malignant osteopetrosis, that the disease was greatly ameliorated, Y-bearing osteoclasts (but not osteoblasts) were transferred, and monocyte-macrophage function, previously defective as measured by phagocytosis and plastic adherence, was restored. In a retrospective survey of 164 patients in whom bone marrow transplantation was performed in 14 European centers between 1969 and 1985, Fischer et al. (1986) found 11 cases of malignant osteopetrosis. In 6 of the 9, engraftment was successful. Bone lesions and hematopoietic abnormalities resolved, but neurosensory defects observed before bone marrow transplantation persisted in 2 of the patients. Four of the patients had shown normal mental development and little or no sensory impairment.
In addition to bone marrow transplantation for congenital osteopetrosis, high-dose calcitriol therapy was found by Key et al. (1984) to ameliorate osteopetrosis in 25% of patients. Key et al. (1995) stated that some patients, however, became refractory to calcitriol treatment.
The generation of superoxide by peripheral blood leukocytes is defective in patients with osteopetrosis (Beard et al., 1986). Patients with chronic granulomatous disease (CGD; 306400), in which there is a defect in superoxide generation, respond to therapy with recombinant human interferon gamma-1b (147570) with increased superoxide generation and fewer infections (Ezekowitz et al., 1988). Additionally, interferon gamma-1b increases marrow space in mice with osteopetrosis and microphthalmos (Rodriguiz et al., 1993). Key et al. (1992) treated 8 patients who had osteopetrosis with interferon gamma-1b for 6 months. During treatment, all the patients had increases in the production of superoxide by cultured leukocytes, decreases in the number of severe infections, and increases in bone resorption. Key et al. (1995) reported the results of treatment in 14 patients for at least 6 months; 11 of the patients were treated for 18 months. All patients had decreases in trabecular bone area and increases in bone marrow space. There was an increase in mean hemoglobin concentration from 7.5 to 10.5 g/dl. Superoxide generation by granulocyte-macrophage colonies increased. In 6 patients for whom pretreatment data were available, there was a 96% decrease in the frequency of infections requiring antibiotic therapy. The treatment was considered a reasonable therapeutic option for patients who were not candidates for BMT and an opportunity to stabilize the clinical condition of patients awaiting transplantation.
Gerritsen et al. (1994) reported outcomes of 69 patients who received allogeneic bone marrow grafts in the period between 1976 and 1994. In 4 patients who received bone marrow transplants without prior myeloablative conditioning, transient osteoblast function was demonstrated in one. Of the 65 patients who received myeloablative pretreatment, recipients of a genotypically HLA-identical BMT had an actuarial probability for 5-year survival with osteoclast function of 79%; recipients of a phenotypically HLA-identical bone marrow graft from a related or unrelated donor, or 1 HLA-mismatched graft from a related donor, had an actuarial probability for 5-year survival with osteoclast function of 38%; patients who received a graft from an HLA-haplotype mismatched related donor had a probability of 5-year survival of only 13%. Recovery of osteoclast function was associated with severe hypercalcemia in 24% of the patients with engraftment, especially those older than 2 years of age. Of the 15 patients who had visual impairment at the time that a successful BMT was performed, 2 had improvement after BMT (13%).
Population Genetics
By a systematic search for osteopetrosis in the county of Funen, Denmark, the prevalence of this category of bone disorder was found to be 5.5 per 100,000 persons (Bollerslev, 1987). Of the 33 patients, 32 had the mild, autosomal dominant form. Thirty-nine percent were asymptomatic. Two obligate carriers, who had the genotype but were not phenotypically affected, were found. The frequency of fractures was low. An unusually high frequency of recessive osteopetrosis has been observed in Costa Rica (Loria-Cortes et al., 1977).
Pathogenesis
Lajeunesse et al. (1996) demonstrated that human osteopetrotic osteoblast-like cells express a defective phenotype in primary cultures in vitro, and that BMT corrects osteoblast function. DNA analysis at polymorphic short tandem repeat loci from donor, recipient, and primary osteoblast-like cells before BMT and 2 years after BMT revealed that the osteoblast-like cells were still of recipient origin after BMT. Osteopetrotic osteoblast-like cells obtained before BMT showed normal production of 1,25(OH)2D3-induced alkaline phosphatase and abnormal osteocalcin production and failed to produce macrophage colony-stimulating factor (120420) in response to IL1-alpha and TNF-alpha. These parameters were all normalized in primary osteoblast-like cells prepared 2 years after BMT. X-linked clonality analysis at the human androgen receptor locus (313700) demonstrated that osteoblasts had a polyclonal and an oligo clonal derivation before and after BMT, respectively, indicating that a limited number of progenitor cells reconstituted this population. Because osteoblasts were still of recipient origin after BMT, this suggests that functional osteoclasts, due to the replacement of hematopoietic cells, provided a local microenvironment in vivo triggering the differentiation and/or recruitment of a limited number of functional osteoblasts.
Mapping
The phenotype in the malignant form of autosomal recessive osteopetrosis is similar to that of the murine mutation osteosclerosis (oc). Heaney et al. (1997, 1998) identified a novel gene that has homology to a family of 12-transmembrane domain transport proteins and mapped it to a region to which the oc mutation had previously been assigned. Given the similarity between the human and murine phenotypes, Heaney et al. (1997, 1998) used conservation of syntenic relationships between mouse and man to assess whether this novel gene should be considered a candidate for human osteopetrosis. Microsatellite markers in the region 11q12-q13 were found to be linked to osteopetrosis in 2 consanguineous Bedouin kindreds. Recombinant events were used to define the disease interval to a 5-cM region. They obtained a maximum lod score of 5.9 at D11S449 at theta = 0.0.
Molecular Genetics
Frattini et al. (2000) showed that TCIRG1 (604592), encoding the osteoclast-specific 116-kD subunit of the vacuolar proton pump, was mutated in 5 of 9 patients with infantile malignant osteopetrosis (see, e.g., 604592.0001-604592.0003). Kornak et al. (2000) reported 5 patients in whom different mutations were identified in at least 1 TCIRG1 allele (see, e.g., 604592.0004-604592.0005). An additional patient from a consanguineous family was not homozygous for markers flanking the locus, suggesting that a second locus may exist for infantile malignant osteopetrosis.
Janssens and Van Hul (2002) reviewed the process of bone remodeling and the genetic defects resulting in aberrant bone formation and resorption.
In a child from a consanguineous Turkish kindred who manifested osteopetrosis and distal RTA (see OPTB3, 259730), Borthwick et al. (2003) excluded defects in the CA2 gene and found instead penetrance of 2 separate recessive disorders, each affecting a different, tissue-specific subunit of the vacuolar proton pump H(+)-ATPase. The osteopetrosis was the result of a homozygous deletion in TCIRG1 (604592.0007), whereas the distal RTA was associated with a homozygous mutation in the ATP6V1B1 gene (192132.0005), which encodes the kidney-specific B1 subunit of H(+)-ATPase. Borthwick et al. (2003) concluded that coinheritance of 2 rare recessive disorders created a phenocopy of CA2 deficiency in this patient.
Animal Model
Walker (1975) showed that osteopetrosis could be induced in normal mice by intravenous injection of splenic cells into the lethally irradiated recipient from osteopetrotic sibs. This he interpreted to mean that (1) progenitors of osteoclasts are produced exclusively by the blood forming tissues; (2) ossification centers can be seeded with osteoclastic progenitors via the blood stream because of their homing capabilities; and (3) the osteoclast is the only cell type functionally incompetent in the osteopetrotic mouse.
Dominici et al. (2004) reported that hematopoietic cells and osteoblasts are derived from a common marrow progenitor after bone marrow transplantation in mice.
INHERITANCE \- Autosomal recessive GROWTH Weight \- Failure to thrive HEAD & NECK Head \- Macrocephaly Face \- Frontal bossing \- Facial paralysis Ears \- Deafness Eyes \- Blindness \- Extraocular muscle paralysis \- Nystagmus \- Optic atrophy Teeth \- Dental caries \- Distorted primary molars ABDOMEN Liver \- Hepatomegaly Spleen \- Splenomegaly SKELETAL \- Osteomyelitis \- Uniformly dense skeleton \- Pathologic fractures \- Bone-within-bone appearance Skull \- Thick, dense skull \- Narrowness of neural and vascular foramina Spine \- Sandwich appearance of vertebral bodies Pelvis \- Coxa vara Limbs \- Splayed metaphyses NEUROLOGIC Central Nervous System \- Hydrocephalus \- Seizures (tetany) \- Cranial nerve palsies HEMATOLOGY \- Pancytopenia \- Anemia LABORATORY ABNORMALITIES \- Low serum calcium \- Elevated serum phosphorus \- Elevated alkaline phosphatase MISCELLANEOUS \- Genetic heterogeneity (see 259700 ) MOLECULAR BASIS \- Caused by mutation in the T-cell immune regulator 1 gene (TCIRG1, 604592.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
|
c1318518
| 28,241 |
omim
|
https://www.omim.org/entry/259700
| 2019-09-22T16:23:51 |
{"doid": ["0110942"], "omim": ["259700"], "orphanet": ["667"], "synonyms": ["Alternative titles", "OSTEOPETROSIS, INFANTILE MALIGNANT 1", "MARBLE BONES, AUTOSOMAL RECESSIVE", "ALBERS-SCHONBERG DISEASE, AUTOSOMAL RECESSIVE"]}
|
A number sign (#) is used with this entry because of evidence that dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD) is caused by homozygous mutation in the DEAF1 gene (602635) on chromosome 11p15. One such family has been reported.
Clinical Features
Rajab et al. (2015) reported 3 sibs, born of consanguineous Omani parents, with a neurodevelopmental disorder characterized by severely delayed psychomotor development, intellectual disability, absence of speech, and hypotonia since infancy. At ages 20, 17, and 4, all needed help for basic daily activities. The 2 older sibs developed seizures at age 4 and 2 years, respectively, and one of them had repeated episodes of status epilepticus. The youngest sib did not have seizures at age 4 years, but EEG showed focal epileptic activity. Brain imaging of the 2 older patients showed bilateral T2-weighted hyperintensities in the putamen without leukodystrophic changes or abnormal gyration. The patients also had behavioral abnormalities, including autistic features, mood swings, agitation, and aggression, as well as features reminiscent of Rett syndrome (312750), such as involuntary body and facial movements, drooling, and sleep disturbances.
Inheritance
The transmission pattern of DYSEIDD in the family reported by Rajab et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 3 sibs, born of consanguineous Omani parents, with DYSEIDD, Rajab et al. (2015) identified a homozygous splice site mutation in the DEAF1 gene (602635.0006). The mutation was found by a combination of linkage analysis and whole-exome sequencing and was confirmed by Sanger sequencing. It segregated with the disorder in the family. The mutation was verified to cause a splicing defect and about 80% mRNA decay, leaving only about 4 to 5% normal transcript in patient fibroblasts, consistent with a loss of function. The unaffected parents and an unaffected sib were heterozygous for the mutation, leading Rajab et al. (2015) to conclude that haploinsufficiency for DEAF1 does not cause symptoms.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Involuntary facial movements MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Lack of speech \- Seizures \- Status epilepticus \- EEG abnormalities \- Dyskinesias \- Involuntary movements \- Sleep disturbances \- Abnormal T2-weighted hyperintensities in the basal ganglia Behavioral Psychiatric Manifestations \- Autistic features \- Aggression \- Agitation \- Mood swings MISCELLANEOUS \- Onset in infancy \- One consanguineous Omani family has been reported (last curated October 2016) MOLECULAR BASIS \- Caused by mutation in the deformed epidermal autoregulatory factor 1 homolog gene (DEAF1, 602635.0006 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
|
c4310683
| 28,242 |
omim
|
https://www.omim.org/entry/617171
| 2019-09-22T15:46:38 |
{"omim": ["617171"], "orphanet": ["468620"], "synonyms": []}
|
Catheter-associated urinary tract infection
SpecialtyUrology
Catheter-associated urinary tract Infection, or CAUTI, is a urinary tract infection associated with urinary catheter use.
## Core prevention[edit]
A number of combined practices such as improved hand hygiene, enhanced barrier protection and reduced catheter use when managing incontinence appear to reduce CAUTI.[1] Urinary catheters should be inserted using aseptic technique and sterile equipment (including sterile gloves, drape, sponges, antiseptic and sterile solution), particularly in an acute care setting. Although catheter use should be minimized in all patients, particularly those at higher risk of CAUTI and mortality (e.g. the elderly or those with impaired immunity),[2] a meta analysis suggests there is insufficient evidence to determine the value of different policies for replacing long term urinary catheters on patient outcomes.[3]
## Incidence[edit]
Bacteria and yeast, including those naturally occurring as part of the human microbiome, can grow within biofilm that forms along the surface of urinary catheters. This leads to infection in the bladder, kidneys, and other organs connected to the urinary tract.[4]
CAUTI can lead to complications such as prostatitis, epididymitis, and orchitis in men, and cystitis, pyelonephritis, gram-negative bacteremia, endocarditis, vertebral osteomyelitis, septic arthritis, endophthalmitis, and meningitis in all patients. Complications associated with CAUTI cause discomfort to the patient, prolonged hospital stay, and increased cost and mortality.[4]
## References[edit]
1. ^ Meddings J, Saint S, Krein SL, Gaies E, Reichert H, Hickner A, McNamara S, Mann JD, Mody L (May 2017). "Systematic Review of Interventions to Reduce Urinary Tract Infection in Nursing Home Residents". Journal of Hospital Medicine. 12 (5): 356–368. doi:10.12788/jhm.2724. PMC 5557395. PMID 28459908.
2. ^ "Catheter-Associated Urinary Tract Infections (CAUTI)". Centers for Disease Control and Prevention. U.S. Department of Health & Human Services. 2009.
3. ^ Cooper FP, Alexander CE, Sinha S, Omar MI (July 2016). "Policies for replacing long-term indwelling urinary catheters in adults". The Cochrane Database of Systematic Reviews. 7: CD011115. doi:10.1002/14651858.CD011115.pub2. PMC 6457973. PMID 27457774.
4. ^ a b Nicolle LE (2014). "Catheter associated urinary tract infections". Antimicrobial Resistance and Infection Control. 3: 23. doi:10.1186/2047-2994-3-23. PMC 4114799. PMID 25075308.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Catheter-associated urinary tract infection
|
c0860239
| 28,243 |
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https://en.wikipedia.org/wiki/Catheter-associated_urinary_tract_infection
| 2021-01-18T18:30:31 |
{"mesh": ["D055499"], "wikidata": ["Q28135201"]}
|
This article is about the term. For the 1997 novel by Kiran Nagarkar, see Cuckold (novel). For the 2015 South African film, see Cuckold (film).
Part of a series on
Non-monogamy
and polyamory
Relationships
* Casual dating
* Group marriage
* Ménage à trois
* Open relationship
* Marriage
Sexual practices
* Casual sex
* Cuckold / Cuckquean
* Extramarital sex
* Gang bang
* Group sex
* Orgy
* Swinging
* Threesome
* Troilism
Terms and values
* Hookup culture
* New relationship energy
* Primary and secondary
* Polyfidelity
* Relationship anarchy
Related topics
* Free love
* Free union
* Polygamy
* v
* t
* e
A cuckold is the husband of an adulterous wife; the wife of an adulterous husband is a cuckquean. In biology, a cuckold is a male which unwittingly invests parental effort in juveniles who are not genetically his offspring.[1]
## Contents
* 1 History of the term
* 1.1 Cuck
* 2 Metaphor and symbolism
* 3 Associations
* 4 Cuckoldry as a fetish
* 5 See also
* 6 References
* 7 External links
## History of the term
c. 1815 French satire on cuckoldry, which shows both men and women wearing horns
The word cuckold derives from the cuckoo bird, alluding to its habit of laying its eggs in other birds' nests.[2][3] The association is common in medieval folklore, literature, and iconography.
English usage first appears about 1250 in the medieval debate poem The Owl and the Nightingale. It was characterized as an overtly blunt term in John Lydgate's "Fall of Princes", c. 1440.[4] Shakespeare's writing often referred to cuckolds, with several of his characters suspecting they had become one.[3]
The word often implies that the husband is deceived; that he is unaware of his wife's unfaithfulness and may not know until the arrival or growth of a child plainly not his (as with cuckoo birds).[3]
The female equivalent cuckquean first appears in English literature in 1562,[5][6] adding a female suffix to the cuck.
A related word, first appearing in 1520, is wittol, which substitutes wit (in the sense of knowing) for the first part of the word, referring to a man aware of and reconciled to his wife's infidelity.[7]
### Cuck
Further information: Cuckservative
An abbreviation of cuckold, the term cuck has been used by the alt-right to attack the masculinity of an opponent. It was originally aimed at other conservatives, whom the alt-right saw as ineffective.[8]
## Metaphor and symbolism
A flag used in the English Civil War by Horatio Cary referring to the Earl of Essex's notorious marital problems
In Western traditions, cuckolds have sometimes been described as "wearing the horns of a cuckold" or just "wearing the horns". This is an allusion to the mating habits of stags, who forfeit their mates when they are defeated by another male.[9]
In Italy (especially in Southern Italy, where it is a major personal offence), the insult is often accompanied by the sign of the horns. In French, the term is "porter des cornes". In German, the term is "jemandem Hörner aufsetzen", or "Hörner tragen", the husband is "der gehörnte Ehemann".
Rabelais's Tiers Livers of Gargantua and Pantagruel (1546) portrays a horned fool as a cuckold.[10] In Molière's L'École des femmes (1662), a man named Arnolphe (see below) who mocks cuckolds with the image of the horned buck (becque cornu) becomes one at the end.
In Chinese usage, the cuckold (or wittol) is said to be "戴綠帽子" 'wearing the green hat', alluding to the sumptuary laws used from the 13th to the 18th centuries that required males in households with prostitutes to wrap their heads in a green scarf (or later a hat).[11]
## Associations
A saint Arnoul(t), Arnolphe, or Ernoul, possibly Arnold of Soissons, is often cited as the patron saint of cuckolded husbands, hence the name of Molière's character Arnolphe.[12][13]
The Greek hero Actaeon is often associated with cuckoldry, as when he is turned into a stag, he becomes "horned".[14] This is alluded to in Shakespeare's Merry Wives, Robert Burton's Anatomy of Melancholy, and others.[15]
## Cuckoldry as a fetish
Unlike the traditional definition of the term, in fetish usage a cuckold or wife watching is complicit in their partner's sexual "infidelity"; the wife who enjoys cuckolding her husband is called a cuckoldress if the man is more submissive.[16][page needed][17][18] If a couple can keep the fantasy in the bedroom, or come to an agreement where being cuckolded in reality does not damage the relationship, they may try it out in reality. However, the primary proponent of the fantasy is almost always the one being humiliated, or the "cuckold": the cuckold convinces his lover to participate in the fantasy for them, though other "cuckolds" may prefer their lover to initiate the situation instead. The fetish fantasy does not work at all if the cuckold is being humiliated against their will.[19]
Psychology regards cuckold fetishism as a variant of masochism, the cuckold deriving pleasure from being humiliated.[20][21] In Freudian analysis, cuckold fetishism is the eroticization of the fears of infidelity and of failure in the man's competition for procreation and the affection of females.[citation needed] In his book Masochism and the Self, psychologist Roy Baumeister advanced a Self Theory analysis that cuckolding (or specifically, all masochism) was a form of escaping from self-awareness, at times when self-awareness becomes burdensome, such as with perceived inadequacy. According to this theory, the physical or mental pain from masochism brings attention away from the self, which would be desirable in times of "guilt, anxiety, or insecurity", or at other times when self-awareness is unpleasant.[22]
## See also
* Beta male (slang)
* Candaulism
* Crime of passion
* Cuckoldry in fish
* Cuckquean
* Cuckservative
* Erotic humiliation
* Female dominance
* Female promiscuity
* Feminization (activity)
* Human sperm competition
* Monogamish
* Non-paternity event
* Open marriage
* Paternity fraud
* Polyamory
* Polyandry, marriage to plural husbands
* Pregnancy fetishism
* Swinging
## References
1. ^ Steven M. Platek and Todd K. Shackelford (Eds.), Female Infidelity and Paternal Uncertainty: Evolutionary Perspectives on Male Anti-Cuckoldry Tactics. Cambridge University Press: New York, 2006.
2. ^ "Online Etymology Dictionary". Retrieved 19 December 2016.
3. ^ a b c Williams, Janet (4 July 2009). "Cuckolds, Horns and Other Explanations". BBC News. Retrieved 11 February 2013.
4. ^ Geoffrey Hughes (26 March 2015). An Encyclopedia of Swearing: The Social History of Oaths, Profanity, Foul Language, and Ethnic Slurs in the English-speaking World. Taylor & Francis. pp. 191–. ISBN 978-1-317-47677-1.
5. ^ Coleman, Julie (1 January 1999). Love, Sex, and Marriage: A Historical Thesaurus. Rodopi. ISBN 9042004339. Retrieved 22 November 2016 – via Google Books.
6. ^ Williams, Gordon (13 September 2001). A Dictionary of Sexual Language and Imagery in Shakespearean and Stuart Literature: Three Volume Set Volume I A-F Volume II G-P Volume III Q-Z. A&C Black. ISBN 9780485113938. Retrieved 22 November 2016 – via Google Books.
7. ^ Oxford English Dictionary
8. ^ Stack, Liam (August 15, 2017). "Alt-Right, Alt-Left, Antifa: A Glossary of Extremist Language". The New York Times.
9. ^ E. Cobham Brewer 1810–1897. Dictionary of Phrase and Fable. 1898.
10. ^ LaGuardia, David P., Intertextual Masculinity in French Renaissance Literature, Ashgate Publishing (Franham, UK 2008) p. 133.
11. ^ Sommer, Matthew Harvey (2002). Sex, Law, and Society in Late Imperial China. Stanford: Stanford University Press. p. 218. ISBN 0-8047-4559-5. Retrieved 2008-07-27.
12. ^ Brian Joseph Levy, The Comic Text: Patterns and Images in the Old French Fabliaux, 2000, ISBN 9042004290
13. ^ William Beck, "Arnolphe or Monsieur de la Souche?", The French Review 42:2:254-261 (December 1968) JSTOR 386804, p. 255
14. ^ Oxford English Dictionary, 3rd ed, 2010, s.v.
15. ^ John Stephen Farmer, Slang and Its Analogues Past and Present, 1903, s.v., p. 15
16. ^ Ley, David (2009). Insatiable Wives: Women Who Stray and the Men Who Love Them. Rowman & Littlefield. ISBN 978-1-4422-0031-9.
17. ^ Kort, Joe; Psychotherapist, Ph D.; Sex, Certified; Kort, Relationship Therapist at Joe; Associates; www.JoeKort.com, P. C. (13 September 2016). "The Expanding Phenomenon Of Cuckolding: Even Gay Men Are Getting Into It". Huffington Post. Retrieved 19 December 2016.
18. ^ Harris, Lynn. "What do you call a female cuckold?". Salon. Retrieved 19 December 2016.
19. ^ Klein, Donald C. (1 Dec 1999). "The humiliation dynamic: An overview". The Journal of Primary Prevention. 12 (2): 93–121. doi:10.1007/BF02015214. PMID 24258218. S2CID 43535241.
20. ^ Rufus, Anneli (Jul 29, 2010). "The Intellectual Sex Fetish". The Daily Beast. Retrieved August 30, 2012.
21. ^ "Cuckolding can also be mixed with other non-monogamous relationship arrangements with which it has substantial overlap such as swinging, open relationships, and polyamory. Again, it is distinguished from these concepts in that cuckold's thrill in their partner's acts is specifically masochistic.", Betchen, Stephen J., Magnetic Partners blog post, 11/18/14
22. ^ Baumeister, Roy (2014). Masochism and the Self. New York: Psychology Press. ISBN 978-1138876064.
## External links
Look up cuckold in Wiktionary, the free dictionary.
* Una McIlvenna (December 20, 2017). "From the 16th-century to men's rights activists: The history of the insult 'cuckold'". ABC. Retrieved December 20, 2017.
* v
* t
* e
Sexual fetishism
Actions, states
* Aquaphilia
* Autassassinophilia
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* Cuckold / Cuckquean
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* Book
* Category
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Cuckold
|
None
| 28,244 |
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https://en.wikipedia.org/wiki/Cuckold
| 2021-01-18T18:39:54 |
{"wikidata": ["Q1483612"]}
|
Salla disease
Other namesSialic acid storage disease or Finnish type sialuria[1]
Sialic acid
SpecialtyNeurology, endocrinology
Salla disease (SD), is an autosomal recessive[2] lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first described in 1979,[3] after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.
## Contents
* 1 Presentation
* 2 Genetics
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
* 8 External links
## Presentation[edit]
Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia, reduced muscle tone and strength, and cognitive impairment.[4] The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The MRI shows arrested or delayed myelination.[5]
## Genetics[edit]
Salla disease has an autosomal recessive pattern of inheritance.
SD is caused by a mutation in the SLC17A5 gene, located at human chromosome 6q14-15.[2][6] This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.[citation needed]
The disease is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 6 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed]
## Diagnosis[edit]
A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid.[7] Prenatal testing is also available for known carriers of this disorder.[citation needed]
## Treatment[edit]
There is no cure for Salla disease. Treatment is limited to controlling the symptoms of this disorder. Anti-convulsant medication may control seizure episodes. Physical therapists can assist an affected individual to build muscle strength and coordination.[citation needed]
## Prognosis[edit]
The life expectancy for individuals with Salla disease is between the ages of 50 and 60.[citation needed]
## See also[edit]
* Infantile free sialic acid storage disease (ISSD)
## References[edit]
1. ^ Online Mendelian Inheritance in Man (OMIM): 604369
2. ^ a b c Aula N, A. P.; Aula, P. (August 2006). "Prenatal diagnosis of free sialic acid storage disorders (SASD)". Prenatal Diagnosis. 26 (8): 655–658. doi:10.1002/pd.1431. PMID 16715535.
3. ^ Aula, P; Autio, S; Raivio, Ko; Rapola, J; Thodén, Cj; Koskela, Sl; Yamashina, I (Feb 1979). ""Salla disease": a new lysosomal storage disorder" (Free full text). Archives of Neurology. 36 (2): 88–94. doi:10.1001/archneur.1979.00500380058006. ISSN 0003-9942. PMID 420628.[permanent dead link]
4. ^ Autio-Harmainen H, Oldfors A, Sourander P, Renlund M, Dammert K, Simila S (1988). "Neuropathology of Salla disease". Acta Neuropathol. 75 (5): 481–490. doi:10.1007/BF00687135. PMID 3287834. S2CID 39839325.
5. ^ Strehle EM (2003). "Sialic acid storage disease and related disorders". Genet Test. 7 (2): 113–121. doi:10.1089/109065703322146795. PMID 12885332.
6. ^ Online Mendelian Inheritance in Man (OMIM): 604322
7. ^ Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA (2004). "Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity". Mol Genet Metab. 82 (2): 137–143. doi:10.1016/j.ymgme.2004.03.001. PMID 15172001.
## External links[edit]
* GeneReview/NIH/UW entry on Free Sialic Acid Storage Disorders
Classification
D
* ICD-10: E77.8
* OMIM: 604369
* MeSH: D029461
* DiseasesDB: 31935
External resources
* GeneReviews: Free Sialic Acid Storage Disorders
* Orphanet: 309334
* v
* t
* e
Lysosomal storage diseases: Inborn errors of carbohydrate metabolism (Glycoproteinoses)
Anabolism
* Dolichol kinase deficiency
* Congenital disorder of glycosylation
Post-translational modification
of lysosomal enzymes
* Mucolipidosis: I-cell disease (ML II)
* Pseudo-Hurler polydystrophy (ML III)
Catabolism
* Aspartylglucosaminuria
* Fucosidosis
* mannosidosis
* Alpha-mannosidosis
* Beta-mannosidosis
* Sialidosis
* Schindler disease
Other
* solute carrier family (Salla disease)
* Galactosialidosis
* v
* t
* e
Genetic disorder, membrane: Solute carrier disorders
1-10
* SLC1A3
* Episodic ataxia 6
* SLC2A1
* De Vivo disease
* SLC2A5
* Fructose malabsorption
* SLC2A10
* Arterial tortuosity syndrome
* SLC3A1
* Cystinuria
* SLC4A1
* Hereditary spherocytosis 4/Hereditary elliptocytosis 4
* SLC4A11
* Congenital endothelial dystrophy type 2
* Fuchs' dystrophy 4
* SLC5A1
* Glucose-galactose malabsorption
* SLC5A2
* Renal glycosuria
* SLC5A5
* Thyroid dyshormonogenesis type 1
* SLC6A19
* Hartnup disease
* SLC7A7
* Lysinuric protein intolerance
* SLC7A9
* Cystinuria
11-20
* SLC11A1
* Crohn's disease
* SLC12A3
* Gitelman syndrome
* SLC16A1
* HHF7
* SLC16A2
* Allan–Herndon–Dudley syndrome
* SLC17A5
* Salla disease
* SLC17A8
* DFNA25
21-40
* SLC26A2
* Multiple epiphyseal dysplasia 4
* Achondrogenesis type 1B
* Recessive multiple epiphyseal dysplasia
* Atelosteogenesis, type II
* Diastrophic dysplasia
* SLC26A4
* Pendred syndrome
* SLC35C1
* CDOG 2C
* SLC39A4
* Acrodermatitis enteropathica
* SLC40A1
* African iron overload
see also solute carrier family
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Salla disease
|
c1096903
| 28,245 |
wikipedia
|
https://en.wikipedia.org/wiki/Salla_disease
| 2021-01-18T18:42:52 |
{"gard": ["4754"], "mesh": ["D029461"], "orphanet": ["309331", "309334"], "synonyms": [], "wikidata": ["Q3843807"]}
|
Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.
## Epidemiology
The X-linked variant of the disease is most common, with an estimated prevalence of 1 in 150,000-200,000.
## Clinical description
Patients may have normal body proportions at birth. The condition typically manifests around puberty with a short neck, scoliosis or thoracic kyphosis, lumbar hyperlordosis, and early-onset progressive osteoarthritis of the hips and knees. Many patients achieve an adult height of more than 153 cm and true dwarfism may not be present. Radiographic findings appear prior to puberty and may include multiple epiphyseal abnormalities, flattened vertebral bodies, narrow disc spaces, hypoplastic odontoid process, short femoral neck, and coxa vara.
## Etiology
The X-linked recessive type is caused by mutations in the TRAPPC2 gene (locus Xp22.2-p22.1).
## Genetic counseling
SEDT may be transmitted as an X-linked recessive, autosomal recessive or autosomal dominant trait.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Spondyloepiphyseal dysplasia tarda
|
c1866717
| 28,246 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93284
| 2021-01-23T16:58:22 |
{"gard": ["10624"], "mesh": ["C566658"], "omim": ["184100", "271600", "313400"], "icd-10": ["Q77.7"]}
|
Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy). This condition begins in childhood or adolescence, usually between ages 12 and 18, and lasts into adulthood. The most common type of seizure in people with this condition is myoclonic seizures, which cause rapid, uncontrolled muscle jerks. People with this condition may also have generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Sometimes, affected individuals have absence seizures, which cause loss of consciousness for a short period that appears as a staring spell. Typically, people with juvenile myoclonic epilepsy develop the characteristic myoclonic seizures in adolescence, then develop generalized tonic-clonic seizures a few years later. Although seizures can happen at any time, they occur most commonly in the morning, shortly after awakening. Seizures can be triggered by a lack of sleep, extreme tiredness, stress, or alcohol consumption.
## Frequency
Juvenile myoclonic epilepsy affects an estimated 1 in 1,000 people worldwide. Approximately 5 percent of people with epilepsy have juvenile myoclonic epilepsy.
## Causes
The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and the EFHC1 gene, although mutations in at least three other genes have been identified in people with this condition. Many people with juvenile myoclonic epilepsy do not have mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition.
A mutation in the GABRA1 gene has been identified in several members of a large family with juvenile myoclonic epilepsy. The GABRA1 gene provides instructions for making one piece, the alpha-1 (α1) subunit, of the GABAA receptor protein. The GABAA receptor acts as a channel that allows negatively charged chlorine atoms (chloride ions) to cross the cell membrane. After infancy, the influx of chloride ions creates an environment in the cell that inhibits signaling between nerve cells (neurons) and prevents the brain from being overloaded with too many signals. Mutations in the GABRA1 gene lead to an altered α1 subunit and a decrease in the number of GABAA receptors available. As a result, the signaling between neurons is not controlled, which can lead to overstimulation of neurons. Researchers believe that the overstimulation of certain neurons in the brain triggers the abnormal brain activity associated with seizures.
Mutations in the EFHC1 gene have been associated with juvenile myoclonic epilepsy in a small number of people. The EFHC1 gene provides instructions for making a protein that also plays a role in neuron activity, although its function is not completely understood. The EFHC1 protein is attached to another protein that acts as a calcium channel. This protein allows positively charged calcium ions to cross the cell membrane. The movement of these ions is critical for normal signaling between neurons. The EFHC1 protein is thought to help regulate the balance of calcium ions inside the cell, although the mechanism is unclear. In addition, studies show that the EFHC1 protein may be involved in the self-destruction of cells. EFHC1 gene mutations reduce the function of the EFHC1 protein. Researchers suggest that this reduction causes an increase in the number of neurons and disrupts the calcium balance. Together, these effects may lead to overstimulation of neurons and trigger seizures.
### Learn more about the genes associated with Juvenile myoclonic epilepsy
* CACNB4
* CLCN2
* EFHC1
* GABRA1
Additional Information from NCBI Gene:
* GABRD
## Inheritance Pattern
The inheritance pattern of juvenile myoclonic epilepsy is not completely understood. When the condition is caused by mutations in the GABRA1 gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The inheritance pattern of juvenile myoclonic epilepsy caused by mutations in the EFHC1 gene is not known.
Although juvenile myoclonic epilepsy can run in families, many cases occur in people with no family history of the disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Juvenile myoclonic epilepsy
|
c2751604
| 28,247 |
medlineplus
|
https://medlineplus.gov/genetics/condition/juvenile-myoclonic-epilepsy/
| 2021-01-27T08:25:29 |
{"gard": ["6808"], "omim": ["613060", "607628", "611136", "607682", "614280", "254770"], "synonyms": []}
|
Olivopontocerebellar atrophy
Other namesMultiple system atrophy – cerebellar subtype[1]
Sagittal section through right cerebellar hemisphere. The right olive has also been cut sagittally.
SpecialtyNeurology
Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain – the cerebellum, pons, and inferior olivary nucleus.[2] OPCA is present in several neurodegenerative syndromes, including inherited and non-inherited forms of ataxia (such as the hereditary spinocerebellar ataxia known as Machado–Joseph disease) and multiple system atrophy (MSA), with which it is primarily associated.[2]
OPCA may also be found in the brains of individuals with prion disorders and inherited metabolic diseases. The characteristic areas of brain damage that indicate OPCA can be seen by imaging the brain using CT scans or MRI studies.[2]
The term was originally coined by Joseph Jules Dejerine and André Thomas.[3][4]
## Contents
* 1 Signs and symptoms
* 2 Cause
* 3 Diagnosis
* 4 Treatment
* 5 References
* 6 External links
## Signs and symptoms[edit]
OPCA is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness.[5][6] Clinical presentation can vary greatly between patients, but mostly affects speech, balance and walking.[7] Other possible neurological problems include spasmodic dysphonia, hypertonia, hyperreflexia, rigidity, dysarthria, dysphagia and neck dystonic posture.[6]
## Cause[edit]
Olivopontocerebellar atrophy is hereditary, but has an unknown genetic basis. There are two forms:
Number OMIM Alt. name Inheritance
OPCA type 2 258300 Fickler[8]-Winkler[9] type OPCA autosomal recessive
OPCA type 5 164700 OPCA with dementia and extrapyramidal signs autosomal dominant
A few non-hereditary diseases formerly categorized as olivopontocerebellar atrophy have been reclassified as forms of multiple system atrophy[10] as well as to four hereditary types, that have been currently reclassified as four different forms of spinocerebellar ataxia:
Hereditary OPCA type OPCA name SCA # Gene OMIM
OPCA type 1 "Menzel type OPCA" SCA1 ATXN1 164400
OPCA type 2, autosomal dominant "Holguin type OPCA" SCA2 ATXN2 183090
OPCA type 3 "OPCA with retinal degeneration" SCA7 ATXN7 164500
OPCA type 4 "Schut-Haymaker type OPCA" SCA1 ATXN1 164400
## Diagnosis[edit]
A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history.[11]
MRI of the brain may show characteristics of OPCA, such as specific changes in the size of affected parts of the brain. This is more likely as the disease progresses; it is possible to have OPCA and have a normal brain MRI (especially within the first year of symptom onset).[citation needed]
Hereditary OPCA may be suspected based on having a family history, and may be diagnosed by genetic testing (when available) for the condition suspected or known to be present in the family. Sporadic OPCA may be diagnosed if hereditary forms of OPCA, and other conditions associated with OPCA, have been ruled out.[citation needed]
## Treatment[edit]
Physiotherapy intervention aims to improve balance and gait of OPCA patients, by stimulating neuroplastic changes in the atrophied neural structure. A challenge-oriented treatment program has previously been shown to be beneficial for individuals with ataxia from OPCA. The treatment program was composed of repetitive training with task challenges (e.g. obstacle course) and/or novel motor skills acquisition over a 12-week period under the supervision of a physiotherapist. Task challenges were progressed only when the patient showed mastery of a task.[5]
Overground harness systems may be used to allow OPCA patients to challenge their balance without chance of falling. Furthermore, home exercise programs and/or aquatic exercises are used to allow more repetitions to facilitate balance learning. Treatment programs should be frequently monitored and adjusted based on a patient's progress. Outcome measures such as the Berg Balance Scale, Dynamic Gait Index and activities-specific balance confidence scales are useful to assess patient's progress over time.[5]
## References[edit]
1. ^ "Multiple system atrophy – cerebellar subtype: MedlinePlus Medical Encyclopedia". medlineplus.gov. Retrieved 24 May 2019.
2. ^ a b c "NINDS Olivopontocerebellar Atrophy Information Page". Archived from the original on 2012-01-27. Retrieved 7 Feb 2012.
3. ^ synd/1903 at Who Named It? \- "Dejerine-Thomas atrophy"
4. ^ J. J. Dejerine, A. Thomas. L’atrophie olivo-ponto-cérébelleuse. Nouvelle iconographie de la Salpêtrière, Paris, 1900, 13: 330-370. 1912, 25: 223-250.
5. ^ a b c Landers, M; Adams M; Acosta K; Fox A. (2009). "Challenge-oriented gait and balance training in sporadic olivopontocerebellar atrophy: a case study". J Neurol Phys Ther. 33 (3): 160–168. doi:10.1097/npt.0b013e3181b511f4. PMID 19809395.
6. ^ a b Berciano, J; Boesch S; Pérez-Ramos JM; Wenning GK (2006). "Olivopontocerebellar atrophy: toward a better nosological definition". Mov. Disord. 21 (10): 1607–13. doi:10.1002/mds.21052. PMID 16874757.
7. ^ https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001765/
8. ^ Fickler, A. Klinische und pathologisch-anatomische Beitraege zu den Erkrankungen des Kleinhirns. Dtsch. Z. Nervenheilk. 41: 306-375, 1911.
9. ^ Winkler, C. A case of olivo-pontine cerebellar atrophy and our conceptions of neo- and palaio-cerebellum. Schweiz. Arch. Neurol. Psychiat. 13: 684-702, 1923.
10. ^ MeSH Result
11. ^ https://rarediseases.info.nih.gov/diseases/7250/olivopontocerebellar-atrophy
## External links[edit]
Classification
D
* ICD-10: G23.8
* ICD-9-CM: 333.0
* MeSH: D009849
* DiseasesDB: 2012
External resources
* MedlinePlus: 000758
* eMedicine: neuro/282
* Olivopontocerebellar atrophy at NINDS
* v
* t
* e
Diseases of the nervous system, primarily CNS
Inflammation
Brain
* Encephalitis
* Viral encephalitis
* Herpesviral encephalitis
* Limbic encephalitis
* Encephalitis lethargica
* Cavernous sinus thrombosis
* Brain abscess
* Amoebic
Brain and spinal cord
* Encephalomyelitis
* Acute disseminated
* Meningitis
* Meningoencephalitis
Brain/
encephalopathy
Degenerative
Extrapyramidal and
movement disorders
* Basal ganglia disease
* Parkinsonism
* PD
* Postencephalitic
* NMS
* PKAN
* Tauopathy
* PSP
* Striatonigral degeneration
* Hemiballismus
* HD
* OA
* Dyskinesia
* Dystonia
* Status dystonicus
* Spasmodic torticollis
* Meige's
* Blepharospasm
* Athetosis
* Chorea
* Choreoathetosis
* Myoclonus
* Myoclonic epilepsy
* Akathisia
* Tremor
* Essential tremor
* Intention tremor
* Restless legs
* Stiff-person
Dementia
* Tauopathy
* Alzheimer's
* Early-onset
* Primary progressive aphasia
* Frontotemporal dementia/Frontotemporal lobar degeneration
* Pick's
* Dementia with Lewy bodies
* Posterior cortical atrophy
* Vascular dementia
Mitochondrial disease
* Leigh syndrome
Demyelinating
* Autoimmune
* Inflammatory
* Multiple sclerosis
* For more detailed coverage, see Template:Demyelinating diseases of CNS
Episodic/
paroxysmal
Seizures and epilepsy
* Focal
* Generalised
* Status epilepticus
* For more detailed coverage, see Template:Epilepsy
Headache
* Migraine
* Cluster
* Tension
* For more detailed coverage, see Template:Headache
Cerebrovascular
* TIA
* Stroke
* For more detailed coverage, see Template:Cerebrovascular diseases
Other
* Sleep disorders
* For more detailed coverage, see Template:Sleep
CSF
* Intracranial hypertension
* Hydrocephalus
* Normal pressure hydrocephalus
* Choroid plexus papilloma
* Idiopathic intracranial hypertension
* Cerebral edema
* Intracranial hypotension
Other
* Brain herniation
* Reye syndrome
* Hepatic encephalopathy
* Toxic encephalopathy
* Hashimoto's encephalopathy
Both/either
Degenerative
SA
* Friedreich's ataxia
* Ataxia–telangiectasia
MND
* UMN only:
* Primary lateral sclerosis
* Pseudobulbar palsy
* Hereditary spastic paraplegia
* LMN only:
* Distal hereditary motor neuronopathies
* Spinal muscular atrophies
* SMA
* SMAX1
* SMAX2
* DSMA1
* Congenital DSMA
* Spinal muscular atrophy with lower extremity predominance (SMALED)
* SMALED1
* SMALED2A
* SMALED2B
* SMA-PCH
* SMA-PME
* Progressive muscular atrophy
* Progressive bulbar palsy
* Fazio–Londe
* Infantile progressive bulbar palsy
* both:
* Amyotrophic lateral sclerosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Olivopontocerebellar atrophy
|
c0028968
| 28,248 |
wikipedia
|
https://en.wikipedia.org/wiki/Olivopontocerebellar_atrophy
| 2021-01-18T18:56:42 |
{"gard": ["7250"], "mesh": ["D009849"], "umls": ["C0028968"], "icd-9": ["333.0"], "icd-10": ["G23.8"], "wikidata": ["Q9386865"]}
|
T-cell/histiocyte rich large B cell lymphoma (THRLBCL) is a rare variant of diffuse large B-cell lymphoma (DLBCL; see this term), mainly affecting middle-aged men and often not being discovered until an advanced disease stage, with involvement of the spleen, liver and bone marrow occurring at a greater frequency than in DLBCL. It is often difficult to diagnose due to its similarity with other lymphoid diseases such as classic Hodgkin lymphoma and nodular lymphocyte-predominant Hodgkin lymphoma (see these terms) and has an aggressive clinical course.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
T-cell/histiocyte rich large B cell lymphoma
|
c1321547
| 28,249 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=300857
| 2021-01-23T17:50:34 |
{"gard": ["12257"], "umls": ["C1321547"], "icd-10": ["C83.3"], "synonyms": ["THRLBCL"]}
|
Malignant germ cell tumor of the cervix uteri is an extremely rare uterine neoplasm characterized by a usually polypoid, friable tumor deriving from primordial germ cells located in the uterine cervix. Presentation is non-specific and often includes abnormal vaginal bleeding and/or discharge, a cervical mass protruding from the vagina, abdominal and/or pelvic pain or, less commonly, difficulty passing stool and perianal pain. Various histological subtypes (incl. dysgerminoma, yolk sac tumor, choriocarcinoma and malignant teratoma) are reported.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Malignant germ cell tumor of the cervix uteri
|
None
| 28,250 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=213837
| 2021-01-23T18:41:53 |
{"icd-10": ["C53.0", "C53.1", "C53.8"], "synonyms": ["Cervical germ cell cancer", "Cervical malignant germ cell tumor", "Germ cell cancer of the cervix uteri"]}
|
This article needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed.
Find sources: "Hyperlysinemia" – news · newspapers · books · scholar · JSTOR (July 2008) (Learn how and when to remove this template message)
Hyperlysinemia
Other namesLysine alpha-ketoglutarate reductase deficiency[1]
lysine
SpecialtyEndocrinology
Hyperlysinemia is an autosomal recessive[2] metabolic disorder characterized by an abnormal increase of lysine in the blood, but appears to be benign.[3] It is caused by mutations in AASS, which encodes α-aminoadipic semialdehyde synthase.[2][4]
Hyperlysinemia is associated with ectopia lentis (a displacement or malposition of the eye's crystalline lens) in humans.[5][6][7]
## Contents
* 1 Genetics
* 2 Diagnosis
* 3 Treatment
* 4 See also
* 5 References
* 6 External links
## Genetics[edit]
Hyperlysinemia has an autosomal recessive pattern of inheritance
Hyperlysinemia is inherited in an autosomal recessive manner.[2] This means the defective gene responsible for the disorder is located on an autosome, and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
## Diagnosis[edit]
* Hyperlysinemia on GARD
This section is empty. You can help by adding to it. (January 2017)
## Treatment[edit]
* Genetic basis of hyperlysinemia-Orphanet Journal of Rare Diseases, on BMC, cited by Houten, S.M., te Brinke, H., Denis, S. et al. Genetic basis of hyperlysinemia. Orphanet J Rare Dis 8, 57 (2013).
This section is empty. You can help by adding to it. (January 2017)
## See also[edit]
* Saccharopinuria
## References[edit]
1. ^ "Hyperlysinemia | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 16 April 2019.
2. ^ a b c Sacksteder KA, Bier BJ, Morrell JC, Goodman BK, Geisbrecht BV, Cox RP, Gould SJ, Geraghty MT (June 2000). "Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia". American Journal of Human Genetics. 66 (6): 1736–1743. doi:10.1086/302919. PMC 1378037. PMID 10775527.
3. ^ Dancis, J; Hutzler J; Ampola MG; Shih VE; van Gelderen HH; Kirby LT; Woody NC (May 1983). "The prognosis of hyperlysinemia: an interim report". Am J Hum Genet. 35 (3): 438–442. PMC 1685659. PMID 6407303.
4. ^ Houten SM, Te Brinke H, Denis S, Ruiter JP, Knegt AC, de Klerk JB, Augoustides-Savvopoulou P, Häberle J, Baumgartner MR, Coşkun T, Zschocke J, Sass JO, Poll-The BT, Wanders RJ, Duran M (Apr 9, 2013). "Genetic basis of hyperlysinemia". Orphanet J Rare Dis. 8: 57. doi:10.1186/1750-1172-8-57. PMC 3626681. PMID 23570448.
5. ^ Eifrig, Charles W (10 March 2015). "Ectopia Lentis Clinical Presentation: Causes". Medscape. WebMD LLC. Retrieved 9 December 2015.
6. ^ Basak, Samar K. (2013). Atlas of clinical ophthalmology (Second ed.). New Delhi: Jaypee brothers. p. 231. ISBN 9789350903254.
7. ^ Kaiser, Neil J. Friedman, Peter K. (2012). Case reviews in ophthalmology. Edinburgh: Saunders Elsevier. p. 184. ISBN 9781437726138.
## External links[edit]
Classification
D
* ICD-10: E72.3
* ICD-9-CM: 270.7
* OMIM: 238700
* MeSH: D020167
* DiseasesDB: 33215
* v
* t
* e
Inborn error of amino acid metabolism
K→acetyl-CoA
Lysine/straight chain
* Glutaric acidemia type 1
* type 2
* Hyperlysinemia
* Pipecolic acidemia
* Saccharopinuria
Leucine
* 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
* 3-Methylcrotonyl-CoA carboxylase deficiency
* 3-Methylglutaconic aciduria 1
* Isovaleric acidemia
* Maple syrup urine disease
Tryptophan
* Hypertryptophanemia
G
G→pyruvate→citrate
Glycine
* D-Glyceric acidemia
* Glutathione synthetase deficiency
* Sarcosinemia
* Glycine→Creatine: GAMT deficiency
* Glycine encephalopathy
G→glutamate→
α-ketoglutarate
Histidine
* Carnosinemia
* Histidinemia
* Urocanic aciduria
Proline
* Hyperprolinemia
* Prolidase deficiency
Glutamate/glutamine
* SSADHD
G→propionyl-CoA→
succinyl-CoA
Valine
* Hypervalinemia
* Isobutyryl-CoA dehydrogenase deficiency
* Maple syrup urine disease
Isoleucine
* 2-Methylbutyryl-CoA dehydrogenase deficiency
* Beta-ketothiolase deficiency
* Maple syrup urine disease
Methionine
* Cystathioninuria
* Homocystinuria
* Hypermethioninemia
General BC/OA
* Methylmalonic acidemia
* Methylmalonyl-CoA mutase deficiency
* Propionic acidemia
G→fumarate
Phenylalanine/tyrosine
Phenylketonuria
* 6-Pyruvoyltetrahydropterin synthase deficiency
* Tetrahydrobiopterin deficiency
Tyrosinemia
* Alkaptonuria/Ochronosis
* Tyrosinemia type I
* Tyrosinemia type II
* Tyrosinemia type III/Hawkinsinuria
Tyrosine→Melanin
* Albinism: Ocular albinism (1)
* Oculocutaneous albinism (Hermansky–Pudlak syndrome)
* Waardenburg syndrome
Tyrosine→Norepinephrine
* Dopamine beta hydroxylase deficiency
* reverse: Brunner syndrome
G→oxaloacetate
Urea cycle/Hyperammonemia
(arginine
* aspartate)
* Argininemia
* Argininosuccinic aciduria
* Carbamoyl phosphate synthetase I deficiency
* Citrullinemia
* N-Acetylglutamate synthase deficiency
* Ornithine transcarbamylase deficiency/translocase deficiency
Transport/
IE of RTT
* Solute carrier family: Cystinuria
* Hartnup disease
* Iminoglycinuria
* Lysinuric protein intolerance
* Fanconi syndrome: Oculocerebrorenal syndrome
* Cystinosis
Other
* 2-Hydroxyglutaric aciduria
* Aminoacylase 1 deficiency
* Ethylmalonic encephalopathy
* Fumarase deficiency
* Trimethylaminuria
This genetic disorder article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hyperlysinemia
|
c0268553
| 28,251 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyperlysinemia
| 2021-01-18T18:45:12 |
{"gard": ["2828"], "mesh": ["D020167"], "umls": ["C0268553"], "icd-9": ["270.7"], "orphanet": ["2203"], "wikidata": ["Q10295763"]}
|
Group of delusional disorders involving belief that a person, object or place has been altered
Delusional misidentification syndrome
SpecialtyPsychiatry
Delusional misidentification syndrome is an umbrella term, introduced by Christodoulou (in his book The Delusional Misidentification Syndromes, Karger, Basel, 1986) for a group of delusional disorders that occur in the context of mental and neurological illness. They all involve a belief that the identity of a person, object, or place has somehow changed or has been altered. As these delusions typically only concern one particular topic, they also fall under the category called monothematic delusions.
This psychopathological syndrome is usually considered to include four main variants:[1]
* The Capgras delusion is the belief that (usually) a close relative or spouse has been replaced by an identical-looking impostor.
* The Fregoli delusion is the belief that various people the believer meets are actually the same person in disguise.
* Intermetamorphosis is the belief that an individual has the ability to take the form of another person in both external appearance and internal personality.
* Subjective doubles, described by Christodoulou in 1978 (American Journal of Psychiatry 135, 249, 1978), is the belief that there is a doppelgänger or double of themselves carrying out independent actions.[2][3][4]
However, similar delusional beliefs, often singularly or more rarely reported, are sometimes also considered to be part of the delusional misidentification syndrome. For example:
* Mirrored-self misidentification is the belief that one's reflection in a mirror is some other person.
* Reduplicative paramnesia is the belief that a familiar person, place, object, or body part has been duplicated. For example, a person may believe that they are in fact not in the hospital to which they were admitted, but an identical-looking hospital in a different part of the country, despite this being obviously false.[5]
* The Cotard delusion is a rare disorder in which people hold a delusional belief that they are dead (either figuratively or literally), do not exist, are putrefying, or have lost their blood or internal organs. In rare instances, it can include delusions of immortality.[6]
* Syndrome of delusional companions is the belief that objects (such as soft toys) are sentient beings.[7]
* Clonal pluralization of the self, where a person believes there are multiple copies of him- or herself, identical both physically and psychologically but physically separate and distinct.[8]
There is considerable evidence that disorders such as the Capgras or Fregoli syndromes are associated with disorders of face perception and recognition. However, it has been suggested that all misidentification problems exist on a continuum of anomalies of familiarity,[9] from déjà vu at one end to the formation of delusional beliefs at the other.
## See also[edit]
* Prosopagnosia
* Cognitive neuropsychiatry
* Crisis actor conspiracy theory
* Implicit memory
* The Truman Show delusion
## References[edit]
1. ^ Ellis HD, Luauté JP, Retterstøl N (1994). "Delusional misidentification syndromes". Psychopathology. 27 (3–5): 117–20. doi:10.1159/000284856. PMID 7846223.
2. ^ Christodoulou G.N. Delusional Misidentification Syndromes, Karger, Basel, 1986
3. ^ Christodoulou G.N. The Syndrome of Capgras, Br. J. Psychiatry 130, 556, 1977
4. ^ Christodoulou G.N. Syndrome of Subjective Doubles, Am. J. Psychiat.135,249,1978
5. ^ Benson DF, Gardner H, Meadows JC (February 1976). "Reduplicative paramnesia". Neurology. 26 (2): 147–51. doi:10.1212/wnl.26.2.147. PMID 943070.
6. ^ Berrios G.E.; Luque R. (1995). "Cotard Syndrome: clinical analysis of 100 cases". Acta Psychiatrica Scandinavica. 91 (3): 185–188. doi:10.1111/j.1600-0447.1995.tb09764.x. PMID 7625193.
7. ^ Shanks MF, Venneri A (November 2002). "The emergence of delusional companions in Alzheimer's disease: an unusual misidentification syndrome". Cogn Neuropsychiatry. 7 (4): 317–28. doi:10.1080/13546800244000021. PMID 16571545.
8. ^ Vörös V, Tényi T, Simon M, Trixler M (2003). "'Clonal pluralization of the self': a new form of delusional misidentification syndrome". Psychopathology. 36 (1): 46–8. doi:10.1159/000069656. PMID 12679592.
9. ^ Sno HN (1994). "A continuum of misidentification symptoms". Psychopathology. 27 (3–5): 144–7. doi:10.1159/000284861. PMID 7846229.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Delusional misidentification syndrome
|
c0006895
| 28,252 |
wikipedia
|
https://en.wikipedia.org/wiki/Delusional_misidentification_syndrome
| 2021-01-18T19:02:47 |
{"mesh": ["D002194"], "wikidata": ["Q2460356"]}
|
A number sign (#) is used with this entry because of evidence that autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is caused by compound heterozygous mutation in the LIMS2 gene (607908) on chromosome 2q14. One such family has been reported.
Description
Autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue (MDRCMTT) is an autosomal recessive muscle disorder characterized by onset of severe and progressive muscle weakness and atrophy in childhood, resulting in loss of independent ambulation. Patients may also have dilated cardiomyopathy and have macroglossia with a small tip, resulting in a triangular appearance of the tongue (summary by Warman Chardon et al., 2015).
Clinical Features
Warman Chardon et al. (2015) reported 2 adult sibs, born of unrelated parents of northern European ancestry, with onset of progressive proximal muscle weakness at about 5 years of age. Both had normal earlier motor development. Features included calf hypertrophy and weakness of the lower and upper limbs progressing to severe quadriparesis; both were wheelchair-bound by age 12. The weakness started proximally but eventually also involved the distal muscles of the upper and lower limbs. At age 35 years, the brother was diagnosed with symptomatic dilated cardiomyopathy with hypokinesis; the sister had asymptomatic moderate dilated cardiomyopathy. Cardiac MRI suggested fibrotic changes. Both patients also had macroglossia that was less evident at the tip, giving the tongue a triangular appearance. Serum creatine kinase was increased; muscle biopsy showed dystrophic features with variation in fiber size, scattered necrotic fibers, and increased connective tissue. Muscle imaging of the sister showed severe muscle atrophy and fat infiltration, consistent with muscular dystrophy. Cognition was unaffected.
Inheritance
The transmission pattern of MRDCMTT in the family reported by Warman Chardon et al. (2015) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 2 sibs, born of unrelated parents, with MDRCMTT, Warman Chardon et al. (2015) identified compound heterozygous mutations in the LIMS2 gene (607908.0001 and 607908.0002). The mutations, which were found by exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. Functional studies of the variants were not performed, but skeletal muscle biopsy of 1 patient showed a marked reduction in LIMS2 protein immunostaining at the Z-disc compared to controls.
INHERITANCE \- Autosomal recessive HEAD & NECK Mouth \- Macroglossia \- Triangular tongue CARDIOVASCULAR Heart \- Cardiomyopathy, dilated \- Hypokinesis \- Systolic dysfunction SKELETAL Feet \- Equinovarus MUSCLE, SOFT TISSUES \- Muscular dystrophy \- Muscle weakness begins proximally \- Muscle weakness of the lower and upper limbs \- Muscle atrophy \- Loss of ambulation \- Variation in fiber size seen on muscle biopsy \- Scattered necrotic fibers \- Increased connective tissue LABORATORY ABNORMALITIES \- Increased serum creatine kinase MISCELLANEOUS \- Onset in childhood \- Progressive \- Two adult sibs have been reported (last curated February 2016) MOLECULAR BASIS \- Caused by mutation in the lim and senescent cell antigen-like domains 2 gene (LIMS2, 607908.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MUSCULAR DYSTROPHY, AUTOSOMAL RECESSIVE, WITH CARDIOMYOPATHY AND TRIANGULAR TONGUE
|
c4225192
| 28,253 |
omim
|
https://www.omim.org/entry/616827
| 2019-09-22T15:47:49 |
{"doid": ["0110288"], "omim": ["616827"], "orphanet": ["466801"], "synonyms": ["LGMD2W", "Alternative titles", "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2W"]}
|
Photic retinopathy
Other namesFoveomacular retinitis
Solar retinopathy
SpecialtyOphthalmology
Photic retinopathy is damage to the eye's retina, particularly the macula, from prolonged exposure to solar radiation or other bright light, e.g., lasers or arc welders. The term includes solar, laser, and welder's retinopathy and is synonymous with retinal phototoxicity.[1] It usually occurs due to staring at the Sun, watching a solar eclipse, or viewing an ultraviolet, Illuminant D65, or other bright light.[1]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Diagnosis
* 4 Treatment
* 5 Prognosis
* 6 See also
* 7 References
## Signs and symptoms[edit]
* Long-term reduced eyesight[2][3]
* Central or paracentral scotoma[2][3]
Vision loss due to solar retinopathy is typically reversible,[4] lasting for as short as one month[2] to over one year.[3] The fundus changes are variable and usually bilateral, mild cases often show no alteration and moderate to severe cases show a foveal yellow spot on the first days after exposure. After a few days it is replaced by a reddish dot often surrounded by pigment.
Permanent holes and lesions are possible; prognosis worsens with dilated pupils or prolonged exposure.
## Pathophysiology[edit]
Although it is frequently claimed that the retina is burned by looking at the Sun, retinal damage appears to occur primarily due to photochemical injury rather than thermal injury. The temperature rise from looking at the Sun with a 3-mm pupil only causes a 4 °C increase in temperature, insufficient to photocoagulate. The energy is still phototoxic: since light promotes oxidation, chemical reactions occur in the exposed tissues with unbonded oxygen molecules.[1] It also appears that central serous retinopathy can be a result of a depression in a treated solar damaged eye.[4][5][6]
The duration of exposure necessary to cause injury varies with the intensity of light, and also affects the possibility and length of recovery
## Diagnosis[edit]
A person with photic retinopathy may notice an impairment in their vision, for example a spot that does not go away after a reasonable recovery time, or blurring. They may also have eye pain or headaches. Vision impairment is usually in both eyes, but can be in just one. Impairment of a person with 20/20 vision usually ends up being about 20/40 or 20/60, but can be better or far worse.[7]
A doctor examining an eye with retinopathy may be able to see no signs at all, or a slight macular edema, which is a sort of blister on or under the macula, an oval colored spot normally visible to an eye doctor on each person's retina.
But while even that edema goes away, within a few days the patient will generally develop a discoloration of the retina at the injured point, often yellow or white, turning red over the next few weeks.
## Treatment[edit]
Photic retinopathy generally goes away on its own over time, but there is no specific treatment known to be reliable for speeding recovery. One path sometimes attempted, which has unclear results, is to treat the initial macular edema with corticosteroids.[7]
## Prognosis[edit]
Generally speaking, people diagnosed with photic retinopathy recover visual acuity completely within two months,[7][8] though more severe cases may take longer, or not see complete recovery at all.
## See also[edit]
* Retinopathy
## References[edit]
1. ^ a b Mainster, Martin A; Turner, Patricia L. (2006). "Retinal Injuries from Light: Mechanisms, Hazards, and Prevention". Retina (4 ed.). Elsevier Mosby. pp. 1857-70.
2. ^ a b c Sefic-Kasumovic S, Firdus H, Alimanovic E, Ljaljevic S, Sefic M. "[Eye injuries caused by an eclipse of the sun]." Med Arh. 2000;54(1):41-4. PMID 10872275
3. ^ a b c Kallmark FP, Ygge J. "Photo-induced foveal injury after viewing a solar eclipse." Acta Ophthalmol Scand. 2005 Oct;83(5):586-9. PMID 16187997
4. ^ a b Chen JC, Lee LR. "Solar retinopathy and associated optical coherence tomography findings." Archived 2006-09-27 at the Wayback Machine Clin Exp Optom. 2004 Nov;87(6):390-3. doi:10.1111/j.1444-0938.2004.tb03100.x PMID 15575813
5. ^ Dobson R. "UK hospitals assess eye damage after solar eclipse." BMJ. 1999 Aug 21;319(7208):469. PMID 10454393.
6. ^ Hunyor AB. "Solar retinopathy: its significance for the ageing eye and the younger pseudophakic patient." Aust N Z J Ophthalmol. 1987 Nov;15(4):371-5. PMID 3435680.
7. ^ a b c Solar Retinopathy: Etiology, Diagnosis, and Treatment
8. ^ Solar Retinopathy — American Academy of Ophthalmology
7\. ^ Stokkermans TJ, Dunbar MT. "Solar retinopathy in a hospital-based primary care clinic." J Am Optom Assoc. 1998 Oct;69(10):625-36. PMID 9805443
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Photic retinopathy
|
c0152131
| 28,254 |
wikipedia
|
https://en.wikipedia.org/wiki/Photic_retinopathy
| 2021-01-18T18:31:03 |
{"umls": ["C0152131"], "wikidata": ["Q7556879"]}
|
See also: Pilon fracture
The Gosselin fracture is a V-shaped fracture of the distal tibia which extends into the ankle joint and fractures the tibial plafond into anterior and posterior fragments.[1]
The fracture was described by Leon Athanese Gosselin, chief of surgery at the Hôpital de la Charité in Paris.[2]
## References[edit]
1. ^ Hunter, Tim B; Leonard F Peltier; Pamela J Lund (May 2000). "Musculoskeletal Eponyms: Who Are Those Guys?". RadioGraphics. 20 (3): 819–836. doi:10.1148/radiographics.20.3.g00ma20819. PMID 10835130.
2. ^ Gosselin LA, Stimson LA. translated in Clinical lectures on surgery. Philadelphia, Pa. Lea, 1878.
## External links[edit]
Classification
D
* ICD-10: S82.3
External resources
* AO Foundation: 43-B1
* v
* t
* e
Fractures and cartilage damage
General
* Avulsion fracture
* Chalkstick fracture
* Greenstick fracture
* Open fracture
* Pathologic fracture
* Spiral fracture
Head
* Basilar skull fracture
* Blowout fracture
* Mandibular fracture
* Nasal fracture
* Le Fort fracture of skull
* Zygomaticomaxillary complex fracture
* Zygoma fracture
Spinal fracture
* Cervical fracture
* Jefferson fracture
* Hangman's fracture
* Flexion teardrop fracture
* Clay-shoveler fracture
* Burst fracture
* Compression fracture
* Chance fracture
* Holdsworth fracture
Ribs
* Rib fracture
* Sternal fracture
Shoulder fracture
* Clavicle
* Scapular
Arm fracture
Humerus fracture:
* Proximal
* Supracondylar
* Holstein–Lewis fracture
Forearm fracture:
* Ulna fracture
* Monteggia fracture
* Hume fracture
* Radius fracture/Distal radius
* Galeazzi
* Colles'
* Smith's
* Barton's
* Essex-Lopresti fracture
Hand fracture
* Scaphoid
* Rolando
* Bennett's
* Boxer's
* Busch's
Pelvic fracture
* Duverney fracture
* Pipkin fracture
Leg
Tibia fracture:
* Bumper fracture
* Segond fracture
* Gosselin fracture
* Toddler's fracture
* Pilon fracture
* Plafond fracture
* Tillaux fracture
Fibular fracture:
* Maisonneuve fracture
* Le Fort fracture of ankle
* Bosworth fracture
Combined tibia and fibula fracture:
* Trimalleolar fracture
* Bimalleolar fracture
* Pott's fracture
Crus fracture:
* Patella fracture
Femoral fracture:
* Hip fracture
Foot fracture
* Lisfranc
* Jones
* March
* Calcaneal
This article about Orthopedic surgery is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Gosselin fracture
|
c0272771
| 28,255 |
wikipedia
|
https://en.wikipedia.org/wiki/Gosselin_fracture
| 2021-01-18T18:54:43 |
{"umls": ["C0272771"], "wikidata": ["Q5587478"]}
|
A number sign (#) is used with this entry because of evidence that Johanson-Blizzard syndrome (JBS) is caused by homozygous or compound heterozygous mutation in the UBR1 gene (605981) on chromosome 15q15.
Description
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Clinical Features
Johanson and Blizzard (1971) and Park et al. (1972) described this syndrome in 3 unrelated girls; features included aplasia or hypoplasia of the nasal alae, congenital deafness, hypothyroidism, postnatal growth retardation, malabsorption, mental retardation, midline ectodermal scalp defects, and absent permanent teeth. Park et al. (1972) described urogenital abnormalities, including double vagina and double uterus.
The male proband of Mardini et al. (1978) had aplasia of the alae nasi, scalp defects over the anterior and posterior fontanels, and imperforate anus. Affected brothers were reported by Day and Israel (1978). Flatz et al. (1979) described this disorder in 2 sisters. Daentl et al. (1979) reported a case in a male who died at the age of 8 years from complications of pancreatic exocrine insufficiency. Autopsy showed a small thyroid filled with colloid, almost complete replacement of the pancreas with fat, and abnormal gyral formation and cortical neuronal organization in the brain.
Motohashi et al. (1981) reported 2 families; in 1, 2 children (earlier reported by Day and Israel, 1978) were affected and in the second, in addition to the 13-month-old proband, 2 affected sibs had died perinatally. Moeschler and Lubinsky (1985) described affected brother and sister. Reichart et al. (1979) and Helin and Jodal (1981) also reported affected sibs. Normal or near-normal intelligence often seems the case.
In a review of JBS by Hurst and Baraitser (1989), it was indicated that 11 of 22 reported children had anorectal abnormalities, most often imperforate anus. Gould et al. (1989) described a family with 2 affected sibs and possibly a third who had died shortly after birth. One of the 2 sibs reported in detail (surprisingly, the sex was not given) died 3 days after birth, colostomy having been performed at age 36 hours for imperforate anus. Autopsy showed, in addition to hypoplasia of alae nasi and frontal and occipital scalp defects, pancreatic ducts and islets surrounded by connective tissue and a total absence of acini. Morphologic changes suggested dysplasia leading to developmental failure, although early acinar destruction could not be ruled out. The second sib, a male born 3 years later, also had the same facies and imperforate anus which was successfully treated surgically. He was treated for pancreatic insufficiency and hypothyroidism, and at age of 10 years performed satisfactorily in a school for the hearing impaired. In the case of the autopsied sib, the thyroid was grossly and microscopically normal with abundant scalloping of colloid.
Gershoni-Baruch et al. (1990) described 2 patients with JBS. They stated that the patients reported as cases of trypsinogen deficiency (see 614044) by Morris and Fisher (1967) and Townes (1969) had in fact JBS, as did a patient with the XXY Klinefelter syndrome reported by Grand et al. (1966), and 2 sibs with hypoplasia of the exocrine pancreas, 1 of whom had imperforate anus, reported by Lumb and Beautyman (1952). In all, they found 26 previously reported patients. They stated that imperforate anus had been reported in 9 patients with JBS; 6 were females and 4 had rectovaginal fistula.
Nagashima et al. (1993) described diabetes mellitus, first detected at age 11 years, in a girl with Johanson-Blizzard syndrome.
Vanlieferinghen et al. (2001) described a case of Johanson-Blizzard syndrome in a neonate. Clinical features included intrauterine growth retardation, aplasia of the nasal alae, midline scalp defect, total situs inversus, imperforate anus, malrotation of the small intestine, pancreatic insufficiency, deafness, and lethal congenital heart defects with dextrocardia. The features were confirmed at autopsy. Vanlieferinghen et al. (2003) described the prenatal ultrasonographic diagnosis of a recurrence of Johanson-Blizzard syndrome in a subsequent pregnancy in this family. The pregnancy was terminated at 21 weeks' gestation. The colon was dilated at 13 weeks. At 17 weeks, dilatation of the bowel was increased, the nose was very small, and the nasal alae were not visualized. Examination of the fetus showed a small beaked nose, midline occipital scalp defect, and monstrous abdominal distention with imperforate anus. Autopsy showed anorectal atresia with sigmoidovesical fistula. Bilateral ureteral dilatation with hydronephrosis and polycystic dysplasia of the kidneys were also present.
Elting et al. (2008) reported 2 unrelated girls with a mild form of Johanson-Blizzard syndrome, born of Turkish and Iranian consanguineous parents, respectively. In addition to the mild but classic features of the disorder, 1 girl had dilated cardiomyopathy, whereas the other had a small atrial septal defect. Neither had significant mental impairment. Molecular genetic analysis revealed that both girls had the same homozygous mutation in the UBR1 gene (605981.0004).
Al-Dosari et al. (2008) reported a male infant, born of consanguineous Saudi Arabian parents, with JBS. He showed intrauterine growth retardation and was noted to have imperforate anus, aplasia of the alae nasi, long philtrum, downturned mouth corners, upslanting palpebral fissures, and an unusual hair pattern on the scalp. He also had hypothyroidism, 2 cafe-au-lait spots, sensorineural hearing loss, and hepatomegaly with hyperbilirubinemia and elevated liver enzymes. Liver biopsy showed giant cell hepatocytes, cholestasis, and decreased number of bile ducts. The liver disease progressed to advanced fibrosis with portal hypertension. The patient did not have pancreatic insufficiency. Family history revealed 3 prior abortions in the mother. Al-Dosari et al. (2008) noted that liver involvement had not previously been reported in this disorder, but could not rule out that it was unrelated. However, genetic analysis excluded a mutation in the MRD3 gene (ABCB4; 171060) as a cause of the liver failure. Liver sections from Ubr1-null mice did not differ from those of wildtype mice.
Inheritance
The possibility of X-linked dominance lethal in the male was raised by Konigsmark and Gorlin (1976) since most patients had been female and the syndrome may have been observed in an XXY male. Autosomal recessive inheritance appeared to have been clinched, however, by the inbred Saudi Arabian pedigree with 3 affected members (1 male and 2 females) reported by Mardini et al. (1978). Parental consanguinity was reported also by Schussheim et al. (1976).
Pathogenesis
Using antibody to UBR1 (605981) and either immunofluorescence microscopy with pancreatic tissue sections or immunoblotting with extracts from cells in culture, Zenker et al. (2005) observed no UBR1 protein in individuals with JBS from different families. By contrast, UBR1 was readily detectable in control pancreas, where it was present largely in the cytosol of acinar cells. Control immunostaining for trypsinogen (276000) as a specific marker for acinar cells showed no substantial differences between pancreas from controls and individuals with JBS, indicating that there was no primary defect of zymogen synthesis in JBS.
Zenker et al. (2005) examined the pancreatic pathology and cell biology in autopsy specimens from 2 fetuses (21 and 34 weeks' gestation, respectively) and also in a newborn baby with JBS. The pancreas of individuals with JBS showed acinar tissue loss that increased with gestational age and was accompanied by inflammatory infiltrates, most prominent in the near-term fetus. Using the TUNEL assay for apoptotic cells, they found no evidence of increased apoptosis in acinar cells of individuals with JBS. Taken together, these findings suggested that the main pancreatic defect in individuals with JBS is not perturbed acinar development in early embryogenesis, but rather gradual destruction of previously formed acinar cells in maturing fetuses, a process that resembles pancreatitis of intrauterine onset.
Mapping
To identify the locus mutated in JBS, Zenker et al. (2005) performed a genomewide linkage scan using a panel of microsatellite markers with an average distance of 10 cM in 7 kindreds with the disorder. They identified a region of homozygosity on 15q shared by individuals originating from all consanguineous families. They further analyzed this region by typing additional microsatellite markers from the draft human genome sequence and refined the candidate region to a 7.5-cM interval. The maximum 2-point lod score was 4.8 for theta = 0.0 at D15S968.
Molecular Genetics
Zenker et al. (2005) prioritized genes within the JBS candidate region on chromosome 15q for mutational screening on the basis of putative function and expression data but identified no obvious candidate. By high-throughput sequencing of DNA from individuals with JBS, they eventually detected mutations in the UBR1 gene (e.g., 605981.0001-605981.0003). In affected individuals from 12 of 13 families included in the study, the variations likely to be causal mutations were identified in both alleles of UBR1, whereas in 1 family, only the paternally inherited mutation was found. Most disease-associated UBR1 alleles (12 of 14) were mutations that predicted premature translational stop codons. Two missense mutations in UBR1 caused substitutions of residues that are conserved among UBR1 proteins of different species.
In a male infant with JBS, who was born of consanguineous Saudi Arabian parents, Al-Dosari et al. (2008) identified a homozygous splice site mutation in the UBR1 gene (605981.0005).
History
Townes (1969) reported a 3.5-year-old female with generalized anasarca, hypoproteinemia, and congestive heart failure. A combined proteolytic and lipolytic defect was found. Activities of trypsin, chymotrypsin, carboxypeptidase, and lipase were completely absent. Activation studies proved negative. Striking improvement accompanied feeding of protein hydrolysate (Townes, 1972). The child also had an imperforate anus, a point of interest because a patient with trypsinogen deficiency also had imperforate anus.
INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature Weight \- Low birth weight Other \- Failure to thrive HEAD & NECK Head \- Microcephaly \- Midline skin dimples over anterior/posterior fontanelles Ears \- Hearing loss, sensorineural \- Cystic dilatation of cochlea and vestibulum Eyes \- Strabismus \- Cutaneolacrimal fistulae \- Lacrimal puncta aplasia Nose \- Hypoplastic alae nasi \- Beaked nose Teeth \- Hypoplastic deciduous teeth \- Absent permanent teeth CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect \- Dilated cardiomyopathy (rare) \- Situs inversus CHEST Breasts \- Small nipples \- Absent areolae ABDOMEN Liver \- Liver failure (1 patient) \- Giant cell hepatocytes (1 patient) \- Cholestasis (1 patient) \- Fibrosis (1 patient) Pancreas \- Exocrine pancreatic insufficiency Gastrointestinal \- Imperforate anus \- Anteriorly placed anus GENITOURINARY External Genitalia (Male) \- Micropenis \- Hypospadias External Genitalia (Female) \- Clitoromegaly Internal Genitalia (Male) \- Cryptorchidism Internal Genitalia (Female) \- Double vagina \- Septate vagina \- Urethrovaginal fistulae Kidneys \- Hydronephrosis \- Calicectasis SKELETAL \- Delayed bone age \- Joint laxity Hands \- Fifth finger clinodactyly \- Transverse palmar crease SKIN, NAILS, & HAIR Skin \- Cafe-au-lait spots \- Scalp aplasia cutis congenita \- Transverse palmar crease Hair \- Blonde, sparse scalp hair \- Frontal upsweep \- Extension of lateral hairline onto forehead \- 'Unruly' scalp hair MUSCLE, SOFT TISSUES \- Anasarca \- Edema (hands and feet) NEUROLOGIC Central Nervous System \- Mental retardation (2/3 patients) \- Hypotonia ENDOCRINE FEATURES \- Hypothyroidism (30% patients) \- Diabetes mellitus LABORATORY ABNORMALITIES \- Low total serum protein \- Hypocalcemia MISCELLANEOUS \- Death in childhood secondary to malabsorption \- Incidence of 1 in 250,000 births MOLECULAR BASIS \- Caused by mutation in the ubiquitin-protein ligase E3 component N-recognin 1 gene (UBR1, 605981.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
JOHANSON-BLIZZARD SYNDROME
|
c0175692
| 28,256 |
omim
|
https://www.omim.org/entry/243800
| 2019-09-22T16:26:16 |
{"doid": ["14694"], "mesh": ["C535880"], "omim": ["243800"], "orphanet": ["2315"], "synonyms": ["Alternative titles", "NASAL ALAR HYPOPLASIA, HYPOTHYROIDISM, PANCREATIC ACHYLIA, AND CONGENITAL DEAFNESS"], "genereviews": ["NBK190101"]}
|
An extreme developmental dental anomaly characterized by the complete absence of all teeth.
## Epidemiology
The prevalence is unknown but it is extremely rare and usually only occurs as part of an associated syndrome such as X-linked hypohidrotic ectodermal dysplasia (X-linked HED; see this term).
## Etiology
Genes found to be responsible for HED include EDA and EDAR and EDARADD.
## Diagnostic methods
Clinical examination along with a panoramic radiograph (and intra-oral X-rays if needed) is performed when teeth eruption is delayed and teeth are then thought to be missing. In normal conditions all primary teeth and crypts of permanent first molars are visible on radiography at birth and permanent teeth crowns (except third molars) at 6 years of age. A diagnosis of anodontia is given when all teeth are missing.
## Management and treatment
Treatment involves full fixed dentures or, in suitable candidates, dental implants. Early mandibular implants therapy is indicated in these severe phenotypes of anodontia. A marked alveolar bone hypotrophy is generally associated with anodontia and requires CT exams of the mandible and 3D reconstructions for implants surgical planning. Maxillary rehabilitation based on osteointegrated implants and prosthodontics is indicated at the end of the skeletal growth. Bone grafts such as onlay autogenous grafts and maxillary sinus floor augmentation procedures are often necessary. Before completion of growth a removable maxillary denture should be used.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Anodontia
|
c0399352
| 28,257 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99797
| 2021-01-23T17:32:58 |
{"gard": ["5818"], "mesh": ["D000848"], "omim": ["206780"], "umls": ["C0399352"], "icd-10": ["K00.0"]}
|
A number sign (#) is used with this entry because paramyotonia congenita is caused by heterozygous mutation in the voltage-gated sodium channel alpha-subunit gene (SCN4A; 603967) on chromosome 17q23.
Allelic disorders with overlapping phenotypes include hyperkalemic periodic paralysis (HYPP; 170500) and the potassium-aggravated myotonias (608390).
See also autosomal dominant myotonia congenita (160800), which is caused by mutation in the CLCN1 gene (118425).
Clinical Features
The characteristics of paramyotonia congenita, first described by von Eulenburg (1886), are (1) inheritance as a dominant with high penetrance; (2) myotonia, increased by exposure to cold; (3) intermittent flaccid paresis, not necessarily dependent on cold or myotonia; (4) lability of serum potassium; (5) nonprogressive nature; and (6) lack of atrophy or hypertrophy of muscles.
Lajoie (1961) described a family with many affected members. The condition, which was already evident in infancy, was manifested mainly by paralysis of muscles exposed to cold; it was not progressive, did not interfere with a reasonably normal social and economic life, and did not affect longevity. Drager et al. (1958) found 30 affected members in 6 generations of a family. Hudson (1963), who reported 17 affected persons in 5 generations of a family, commented on the phenotypic overlap of this condition with hypokalemic, eukalemic, and hyperkalemic periodic paralysis, with myotonia congenita, and with myotonic dystrophy. Six and possibly 9 generations had affected members in the French-Canadian family reported by Samaha (1964). Eating ice cream or swimming in cold water was dangerous to affected members. Serum potassium levels were moderately increased and the patients were sensitive to administered potassium. Chlorothiazide was remarkably beneficial. Becker (1970) gave an extensive review of the subject and described studies in 18 kindreds.
In electrophysiologic studies of 5 unrelated patients with PMC, Ricker et al. (1986) concluded that slowed muscle relaxation precipitated by cooling the muscle contributed to paramyotonic stiffness.
Borg et al. (1993) described a large Swedish family with paramyotonia congenita. Clinical features included cold-induced myotonia, attacks of weakness, persistent weakness, and some signs of muscle affection. Muscle action potentials decreased significantly after cooling. An ancestor of the family, who had myotonia, lived in the same town at the same time as Albert Eulenburg. Borg et al. (1993) suggested that their family was part of the originally described kindred (Eulenburg, 1886).
Sasaki et al. (1999) reported a 4-generation Japanese family in which 9 members were affected with PMC. The proband was a 16-year-old girl who began to experience muscle stiffness in her face, hands, and limbs on exposure to cold at the age of 4 years. She showed grip and percussion myotonia in her hands which was aggravated by exercise (paradoxical myotonia), and hand muscle weakness after cold exposure. Serum potassium was normal. There were no episodes of generalized weakness. Other family members had the same symptoms and signs, and only 3 reported episodes of generalized paralysis, always after exposure to cold.
Miller et al. (2004) identified mutations in the SCN4A gene in 49 of 56 patients with PMC. The average age at onset in all patients, with or without mutations, was 3 to 4 years. Clinical myotonia was present in all patients, and all of those tested showed increased myotonia in response to cold temperature. Approximately half of patients had mild muscle weakness, and most patients had increased serum creatine kinase. In a diagnostic flow chart for the periodic paralyses, Miller et al. (2004) indicated that PMC shows early age at onset and is characterized by frequent attacks lasting less than 24 hours with normal serum potassium levels.
Petitprez et al. (2008) reported a large family with autosomal dominant myotonia associated with a heterozygous mutation in the SCN4A gene (603967.0029). Age at onset ranged from 4 to 22 years. All patients reported muscle stiffness, which occurred upon starting movement after a time of motor rest, especially when the rest period followed physical activity. The duration of the stiffness was usually very short, sometimes only seconds, and improved with repetitive movement. Most reported worsening of symptoms during exposure to cold, and approximately half reported worsening after fasting. Many patients reported worsening of symptoms with mental stress and pregnancy, worsening in puberty for those with childhood onset, and improvement in older age. Muscle weakness was not reported.
Dupre et al. (2009) reported 14 French Canadian patients from 9 unrelated families with myotonia caused by SCN4A mutations (see, e.g., 603967.0007). The mean age at onset was 17.7 years (range, 3 to 56). The most common clinical features included lip myotonia (57%), percussion myotonia (86%), handgrip myotonia (71%), warm-up phenomenon (79%), generalized stiffness (64%), muscle pain (64%), and exacerbation with cold temperatures (79%). Less common features included lid lag (21%), tongue myotonia (28%), and generalized hypertrophy (21%). None had weakness. Among female patients, 38% reported aggravation of symptoms during menstruation or pregnancy, and alleviation after menopause. One patient reported improvement with alcohol. Although many patients (43%) tried medication, only a few (28%) had relief. The most effective medications were mexiletine and carbamazepine, followed by phenytoin. Electrophysiologic studies showed similar myotonia and decremental CMAP responses as patients with heterozygous mutations in the CLCN1 (118425) gene.
### Paramyotonia without Cold Paralysis
Brungger and Kaeser (1977) described an extensive kindred in which at least 26 members had paramyotonia congenita. Cold paralysis never occurred spontaneously and could not be induced by immersion in cold water or by potassium load. The findings supported the conclusion by DeJong (1955) of a separate form of paramyotonia without cold paralysis.
Koch et al. (1995) reported 3 unrelated 3-generation pedigrees of German extraction which segregated paramyotonia congenita without paralysis on exposure to cold. The probands were only mildly affected. There was muscle stiffness in the cold, but never any weakness, even in a muscle contraction measurement registered by a standardized forearm cooling test. The authors stated that the absence of weakness after exposure to cold or exercise distinguished the phenotype from classic paramyotonia congenita of Eulenburg.
Davies et al. (2000) reported an Irish family in which 5 members were affected with paramyotonia without periodic paralysis ('pure paramyotonia.') The proband developed symptoms in childhood consisting of spasms of muscle stiffness that preferentially affected the hands and face. Symptoms tended to worsen with exertion (paradoxical myotonia), but the most marked exacerbation occurred in cold weather. There was no history of periodic paralysis or progressive muscle weakness. Physical exam showed myotonia, and electromyography (EMG) showed profuse myotonic discharges. On cooling, there was a 78% drop in compound muscle action potential amplitude. Four other family members had a similar clinical history. Davies et al. (2000) identified a point mutation in the SCN4A gene (603967.0019) that segregated with the disease phenotype in this family.
### Clinical Variability
McClatchey et al. (1992) described a 3-generation Finnish family in which affected members had a disorder with features of both PMC and HYPP. The proband and her brother had infrequent attacks of muscle weakness while resting after exercise, myotonia, and hyperkalemia, typical of HYPP. Their father complained of nocturnal and cold-induced weakness consistent with PMC. Some other members of the family had myotonic features, limb stiffness, and myotonia precipitated by cold. McClatchey et al. (1992) also reported an Italian family with PMC and suggested that some members had a phenotype consistent with myotonia congenita (widespread spontaneous myotonia even without cooling). Both families were found to have mutations in the SCN4A gene (603967.0005-603967.0006).
Kelly et al. (1997) described a large kindred in which affected members were phenotypically heterogeneous with episodic potassium-sensitive paralysis as well as stiffness and weakness induced by exercise and cold. A mutation in the SCN4A gene (603967.0002) was identified. The authors noted that the same mutation had previously been described in families with only HYPP (see Rojas et al., 1991).
Brancati et al. (2003) reported an Italian kindred with 9 individuals affected with a severe form of HYPP and mild features of paramyotonia congenita. Onset of paralytic episodes was in the first 6 to 12 months in all patients. The episodes were frequent, 2 to 3 times per week, lasting 10 minutes to 2 hours, and were usually accompanied by muscle stiffness, usually of the lower limbs. During adolescence, episodes were precipitated by rest after exercise, cold, alcohol intake, and fasting. The frequency and severity of attacks worsened over the years, occurring daily and spontaneously. Five of 6 patients had normal serum potassium during attacks. Diffuse interictal weakness, primarily in the proximal muscles, occurred around the fourth to fifth decade.
Gay et al. (2008) described a female infant with severe fatal neonatal nondystrophic myotonia who presented with facial dysmorphism, muscle hypertrophy, severe constipation, psychomotor delay, and frequent cold-induced episodes of myotonia and muscle weakness, leading to severe hypoxia and loss of consciousness; she died at 20 months of age following a bronchopulmonary infection.
Matthews et al. (2008) reported a woman with classic PMC who had 2 affected children who presented with transient neonatal hypotonia. The older child recovery fully from the neonatal hypotonia and later developed classic PMC at age 3 years. The authors identified 4 additional cases from 3 additional families with transient neonatal hypotonia. Some of the patients required feeding or respiratory assistance, and all later developed classic PMC by age 5 years. All of these patients had the same missense mutation in the SCN4A gene (603967.0028). Earlier generations of 3 of the families reported a history of PMC without neonatal hypotonia. The findings expanded the phenotypic spectrum of PMC to include neonatal hypotonia.
Matthews et al. (2011) reported a boy with PMC who presented with neonatal inspiratory stridor and poor feeding. Laryngoscopy showed findings consistent with laryngomalacia. He continued to have stridor for the first 6 months of life, and later motor milestones were mildly delayed. In early childhood, he was noted to have frequent episodic muscle weakness and stiffness associated with cold weather. At age 4 years, he continued to have episodes of inspiratory stridor exacerbated by viral illness, cold weather, and prolonged laughing or crying. His mother, grandfather, and great-uncle reported similar episodes of muscle stiffness and weakness exacerbated by cold and exercise. All were found to carry a heterozygous mutation in the SCN4A gene (T1313M; 603967.0008).
Diagnosis
Among 22 patients with PMC, 14 with sodium channel myotonia, and 18 myotonia patients with mutations in the CLCN1 gene (118425), Fournier et al. (2006) found that cold temperature was able to exaggerate EMG findings in a way that enabled a clear correlation between EMG findings and genetic defects. Those with PMC showed a clear worsening of compound muscle action potential with cold temperature. Those with sodium channel myotonia tended not to show a decline in compound action muscle potentials, whereas those with myotonia due to CLCN1 mutations tended to show improvement of the muscle potential with exercise, concomitant with the clinical warm-up phenomenon.
Mapping
Ptacek et al. (1991) found that paramyotonia congenita is linked to the gene for the muscle sodium channel subunit, SCN4A (lod score of 4.4 at theta = 0.0 at assumed penetrance of 0.95). This gene was also shown to be tightly linked to hyperkalemic periodic paralysis, which in some cases is associated with myotonia, and the authors suggested that PMC and HYPP are allelic disorders. In a linkage analysis of 17 well-defined families with PMC, Koch et al. (1991) found strong linkage to the SCN4A gene (maximum lod score of 20.61 at theta = 0.001). No recombination event was found between paramyotonia congenita and the SCN4A gene.
Molecular Genetics
In patients with PMC from 3 families, Ptacek et al. (1992) identified 2 mutations in the SCN4A gene (603967.0003-603967.0004).
In 2 families with PMC, McClatchey et al. (1992) identified 2 different mutations in the SCN4A gene (603967.0007-603967.0008). McClatchey et al. (1992) suggested that these are examples of molecular definition of temperature-sensitive mutations in the human. At normal temperatures, this mutation may have minimal clinical significance; however, even a minor drop in temperature may impede movement of the channel loop enough to allow an abnormal sodium flux.
In 3 families with paramyotonia without cold paralysis, Koch et al. (1995) found the same novel missense mutation in the SCN4A gene (603967.0013). In a family affected with PMC without periodic paralysis, Davies et al. (2000) identified a mutation in the SCN4A gene (603967.0019), and Sasaki et al. (1999) identified the same mutation in a family with PMC in which only 3 members showed periodic paralysis.
In a female infant with severe fatal neonatal nondystrophic myotonia and overlapping features of PMC and HYPP, Gay et al. (2008) identified a heterozygous mutation (N1297K; 603967.0027) in the SCN4A gene.
Population Genetics
Rossignol et al. (2007) identified a heterozygous founder mutation in the SCN4A gene (M1476I; 603967.0026) in 44 patients from 11 French Canadian families with a myotonia phenotype most consistent with paramyotonia congenita. The patients originated from the Saguenay-Lac-Saint-Jean region with notable clustering around Saint-Felicien, and haplotype analysis indicated a founder effect. The phenotype was quite variable, with age at onset ranging from 5 to 67 years (mean, 21 years) and patients showing mild (61%) to severe (14%) symptoms. Eleven (25%) patients were asymptomatic despite myotonic discharges on EMG. The most consistent features were cold-induced myotonia (41%) and painful myotonia (18%). Other variable features included aggravation of symptoms with pregnancy, myotonic reactions to anesthesia, food-induced paralysis, and rhabdomyolysis. Potassium challenge was not conducted.
Nomenclature
Lehmann-Horn et al. (1993) suggested the term 'sodium channel disease' to encompass the different allelic syndromes caused by SCN4A mutations.
History
Chitayat et al. (1987) found a suggestion of linkage of typical paramyotonia congenita to APOC2 (608083) on chromosome 19. The maximum lod score was 1.5 at theta = 0.0. They raised the possibility that PMC is caused by a mutation at the same locus as DM (160900), which is linked to APOC2. Koch et al. (1988, 1989) presented linkage data excluding the paramyotonia congenita locus from much of chromosome 19, and specifically excluding the possibility that it is allelic to DM. Bender et al. (1989) found a suggestion of linkage to haptoglobin (140100) on chromosome 16 (maximum lod score of 1.16 at theta = 0.16.)
INHERITANCE \- Autosomal dominant RESPIRATORY \- Inspiratory stridor in early life ABDOMEN Gastrointestinal \- Poor feeding in early life MUSCLE, SOFT TISSUES \- Myotonia, cold-sensitive, predominantly of face, tongue, forearm, and hand precipitated by muscle cooling or cold exposure or rest after exercise \- Transient neonatal hypotonia (less common) \- Grip myotonia \- Percussion myotonia \- Paradoxical myotonia (myotonia increases with exercise) \- Muscle stiffness \- Muscle pain \- Muscle hypertrophy \- Muscle weakness after cooling or on warming affected muscle \- Decreased muscle action potential after warming affected muscle \- Episodic weakness may or may not occur independent of myotonia \- Usually no myopathic changes on biopsy \- Potassium sensitivity has been reported MISCELLANEOUS \- Onset in infancy or early childhood \- Some patients may present with transient neonatal hypotonia, and then later develop classic PMC in childhood \- Highly variable phenotype \- Affected females report aggravation of symptoms during menstrual periods and pregnancy, with alleviation after menopause \- Alcohol may alleviate symptoms \- Patients may have a combination phenotype of PMC and HYPP (see 603967.0005 ) \- Allelic disorder to hyperkalemic periodic paralysis (HYPP, 170500 ) \- Allelic disorder to potassium-aggravated myotonia ( 608390 ) \- Allelic disorder to hypokalemic periodic paralysis (HOKPP, 170400 ) MOLECULAR BASIS \- Caused by mutation in the alpha-subunit of the type IV voltage-gated sodium channel gene (SCN4A, 603967.0003 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
PARAMYOTONIA CONGENITA OF VON EULENBURG
|
c0221055
| 28,258 |
omim
|
https://www.omim.org/entry/168300
| 2019-09-22T16:36:34 |
{"mesh": ["D020967"], "omim": ["168300"], "icd-10": ["G71.19"], "orphanet": ["684"], "synonyms": ["Alternative titles", "PARALYSIS PERIODICA PARAMYOTONICA"]}
|
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps (HANAC) syndrome is part of a group of conditions called the COL4A1-related disorders. The conditions in this group have a range of signs and symptoms that involve fragile blood vessels. HANAC syndrome is characterized by angiopathy, which is a disorder of the blood vessels. In people with HANAC syndrome, angiopathy affects several parts of the body. The blood vessels as well as thin sheet-like structures called basement membranes that separate and support cells are weakened and more susceptible to breakage.
People with HANAC syndrome develop kidney disease (nephropathy). Fragile or damaged blood vessels or basement membranes in the kidneys can lead to blood in the urine (hematuria). Cysts can also form in one or both kidneys, and the cysts may grow larger over time.
Compared to other COL4A1-related disorders, the brain is only mildly affected in HANAC syndrome. People with this condition may have a bulge in one or multiple blood vessels in the brain (intracranial aneurysms). These aneurysms have the potential to burst, causing bleeding within the brain (hemorrhagic stroke). However, in people with HANAC syndrome, these aneurysms typically do not burst. About half of people with this condition also have leukoencephalopathy, which is a change in a type of brain tissue called white matter that can be seen with magnetic resonance imaging (MRI).
Muscle cramps experienced by most people with HANAC syndrome typically begin in early childhood. Any muscle may be affected, and cramps usually last from a few seconds to a few minutes, although in some cases they can last for several hours. Muscle cramps can be spontaneous or triggered by exercise.
Individuals with HANAC syndrome also experience a variety of eye problems. All individuals with this condition have arteries that twist and turn abnormally within the light-sensitive tissue at the back of the eyes (arterial retinal tortuosity). This blood vessel abnormality can cause episodes of bleeding within the eyes following any minor trauma to the eyes, leading to temporary vision loss. Other eye problems associated with HANAC syndrome include a clouding of the lens of the eye (cataract) and an abnormality called Axenfeld-Rieger anomaly. Axenfeld-Rieger anomaly is associated with various other eye abnormalities, including underdevelopment and eventual tearing of the colored part of the eye (iris), and a pupil that is not in the center of the eye.
Rarely, affected individuals will have a condition called Raynaud phenomenon in which the blood vessels in the fingers and toes temporarily narrow, restricting blood flow to the fingertips and the ends of the toes. As a result, the skin around the affected area may turn white or blue for a brief period of time and the area may tingle or throb. Raynaud phenomenon is typically triggered by changes in temperature and usually causes no long term damage.
## Frequency
HANAC syndrome is a rare condition, although the exact prevalence is unknown. At least six affected families have been described in the scientific literature.
## Causes
Mutations in the COL4A1 gene cause HANAC syndrome. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main component of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).
The COL4A1 gene mutations that cause HANAC syndrome result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without these networks are unstable, leading to weakening of the tissues that they surround. In people with HANAC syndrome, the vasculature and other tissues within the kidneys, brain, muscles, eyes, and throughout the body weaken.
### Learn more about the gene associated with Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
* COL4A1
## Inheritance Pattern
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome
|
c2673195
| 28,259 |
medlineplus
|
https://medlineplus.gov/genetics/condition/hereditary-angiopathy-with-nephropathy-aneurysms-and-muscle-cramps-syndrome/
| 2021-01-27T08:25:26 |
{"gard": ["10889"], "mesh": ["C567088"], "omim": ["611773"], "synonyms": []}
|
Isaacs' syndrome is a rare neuromuscular disorder that is characterized by progressive muscle stiffness; continuously contracting or twitching muscles (myokymia); and diminished reflexes. Signs and symptoms generally develop between ages 15 and 60, with most people experiencing symptoms before age 40. Although the exact underlying cause is unknown, there appear to be hereditary and acquired (non-inherited) forms of the condition. Treatment is based on the signs and symptoms present in each person.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Isaacs' syndrome
|
c0242287
| 28,260 |
gard
|
https://rarediseases.info.nih.gov/diseases/6793/isaacs-syndrome
| 2021-01-18T17:59:43 |
{"mesh": ["D020386"], "umls": ["C0242287"], "orphanet": ["84142"], "synonyms": ["Neuromyotonia", "Isaac's-Merten's syndrome", "Continuous muscle fiber activity syndrome", "Quantal squander syndrome", "Acquired neuromyotonia", "Isaac syndrome", "Isaac-Mertens syndrome", "Peripheral nerve hyperexcitability"]}
|
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
## Epidemiology
To date, six cases from consanguineous parents have been described.
## Clinical description
Endocrine anomalies include hypoplasia of the adrenal and pituitary glands. Skeletal anomalies include micromelia, syndactyly, brachydactyly and ulnar deviation of hands. Facial anomalies, such as midface hypoplasia, micrognathia, and a flat and wide nasal bridge, are also observed.
## Etiology
The disease is caused by mutations in the ICK gene, encoding an intestinal cell kinase.
## Genetic counseling
Transmission is autosomal recessive.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Endocrine-cerebro-osteodysplasia syndrome
|
c2675227
| 28,261 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=199332
| 2021-01-23T19:02:02 |
{"mesh": ["C567210"], "omim": ["612651"], "icd-10": ["Q87.8"], "synonyms": ["ECO syndrome"]}
|
Eosinophilic cellulitis
Other namesWells' syndrome, recurrent granulomatous dermatitis with eosinophilia[1]
Initial rash in eosinophilic cellulitis
SpecialtyDermatology
SymptomsPainful, red, raised, warm patches of skin[2]
Usual onsetSudden and recurrent[2]
DurationFew weeks[2]
CausesUnknown[2]
Differential diagnosisVasculitis, cellulitis, anaphylaxis[2][1]
MedicationCorticosteroids, antihistamines[2][1]
PrognosisOften goes away by itself[2]
Frequency~200 documented cases[1]
Eosinophilic cellulitis, also known as Wells' syndrome (not to be confused with Weil's disease), is a skin disease that presents with painful, red, raised, and warm patches of skin.[2] The rash comes on suddenly, lasts for a few weeks, and often repeatedly comes back.[2] Scar formation does not typically occur.[1]
Eosinophilic cellulitis is of unknown cause.[2] It is suspected to be an autoimmune disorder.[2] It may be triggered by bites from insects such as spiders, fleas, or ticks, or from medications or surgery.[2] Diagnosis is made after other potential cases are ruled out.[1] Skin biopsy of the affected areas may show an increased number of eosinophils.[2] Other conditions that may appear similar include cellulitis, contact dermatitis, and severe allergic reactions such as anaphylaxis.[2]
Treatment is often with a corticosteroids.[2] Steroids applied as a cream is generally recommended over the use of steroids by mouth.[3] Antihistamines may be used to help with itchiness.[1] Many times the condition goes away after a few weeks without treatment.[2] The condition is uncommon.[1] It affects both sexes with the same frequency.[2] It was first described by George Crichton Wells in 1971.[4][1]
## Contents
* 1 Cause
* 2 Diagnosis
* 3 Treatment
* 4 References
* 5 External links
## Cause[edit]
Eosinophilic cellulitis is of unknown cause.[2] It is suspected to be an autoimmune disorder.[2] It may be triggered by bites from insects such as mosquitos,[5] spiders, fleas, or ticks, or from medications or surgery.[2]
## Diagnosis[edit]
Histology of a skin biopsy from acute phase eosinophilic cellulitis. Note findings of plentiful tissue eosinophils and flame figures at the deeper corium sections (hematoxylin & eosin, original magnification ×40).
Diagnosis requires ruling out other potential causes.[1] This includes ruling out vasculitis on skin biopsy.[1]
## Treatment[edit]
Treatment is often with a steroids.[2] This can be either applied as a cream or taken by mouth.[3] As the condition tends to get better on its own taking steroids by mouth should generally only be tried if the rash covers a large area and it does not get better with other measures.[3]
## References[edit]
1. ^ a b c d e f g h i j k Weins, AB; Biedermann, T; Weiss, T; Weiss, JM (October 2016). "Wells syndrome". Journal der Deutschen Dermatologischen Gesellschaft. 14 (10): 989–993. doi:10.1111/ddg.13132. PMID 27767278.
2. ^ a b c d e f g h i j k l m n o p q r s t u "Familial Eosinophilic Cellulitis - NORD (National Organization for Rare Disorders)". NORD (National Organization for Rare Disorders). 2009. Retrieved 10 April 2017.
3. ^ a b c Räßler, F; Lukács, J; Elsner, P (September 2016). "Treatment of eosinophilic cellulitis (Wells syndrome) - a systematic review". Journal of the European Academy of Dermatology and Venereology : JEADV. 30 (9): 1465–79. doi:10.1111/jdv.13706. PMID 27357601.
4. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
5. ^ Tatsuno K, Fujiyama T, Matsuoka H, Shimauchi T, Ito T, Tokura Y (June 2016). "Clinical categories of exaggerated skin reactions to mosquito bites and their pathophysiology". Journal of Dermatological Science. 82 (3): 145–52. doi:10.1016/j.jdermsci.2016.04.010. PMID 27177994.
## External links[edit]
Classification
D
* ICD-10: L98.3 (ILDS L98.300)
* MeSH: C536693
* DiseasesDB: 34888
* DermNet NZ entry
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Eosinophilic cellulitis
|
c0343101
| 28,262 |
wikipedia
|
https://en.wikipedia.org/wiki/Eosinophilic_cellulitis
| 2021-01-18T18:50:38 |
{"gard": ["329"], "mesh": ["C536693"], "umls": ["C0343101"], "icd-10": ["L98.3"], "orphanet": ["901"], "wikidata": ["Q5381902"]}
|
Genetic disease resulting in abnormal formation or function of cilia
Ciliopathy
Eukaryotic cilium
SpecialtyMedical genetics
A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures, the basal bodies,[1] or ciliary function.[2] Primary cilia are important in guiding the process of development, so abnormal ciliary function while an embryo is developing can lead to a set of malformations that can occur regardless of the particular genetic problem.[3] The similarity of the clinical features of these developmental disorders means that they form a recognizable cluster of syndromes, loosely attributed to abnormal ciliary function and hence called ciliopathies. Regardless of the actual genetic cause, it is clustering of a set of characteristic physiological features which define whether a syndrome is a ciliopathy.
Although ciliopathies are usually considered to involve proteins that localize to motile and/or immotile (primary) cilia or centrosomes, it is possible for ciliopathies to be associated with unexpected proteins such as XPNPEP3, which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins.[4]
Significant advances in understanding the importance of cilia were made in the mid-1990s. However, the physiological role that this organelle plays in most tissues remains elusive. Additional studies of how ciliary dysfunction can lead to such severe disease and developmental pathologies is still a subject of current research.[5]
## Contents
* 1 Signs and symptoms
* 2 Pathophysiology
* 3 Genetics
* 4 List of ciliopathies
* 4.1 Known ciliopathies
* 4.2 Likely ciliopathies
* 4.3 Possible ciliopathies
* 5 History
* 6 References
* 7 External links
## Signs and symptoms[edit]
A wide variety of symptoms are potential clinical features of ciliopathy. The signs most exclusive to a ciliopathy, in descending order of exclusivity, are:[6]:138
* Dandy–Walker malformation (cerebellar vermis hypoplasia, usually with hydrocephalus)
* Agenesis of the corpus callosum
* Situs inversus
* Posterior encephalocele
* Polycystic kidneys
* Postaxial polydactyly
* Liver disease
* Retinitis pigmentosa
* Intellectual disability
A case with polycystic ovary syndrome, multiple subcutaneous cysts, renal function impairment, Caroli disease and liver cirrhosis due to ciliopathy has been described.[7]
Phenotypes sometimes associated with ciliopathies can include:[6]
* Anencephaly
* Breathing abnormalities
* Cerebellar vermis hypoplasia
* Diabetes
* Exencephaly
* Eye movement abnormalities
* Hydrocephalus
* Hypoplasia of the corpus callosum
* Hypotonia
* Infertility
* Cognitive impairment/defects
* Obesity[8]
* Other polydactyly
* Respiratory dysfunction
* Renal cystic disease
* Retinal degeneration
* Sensorineural deafness
* Spina bifida
## Pathophysiology[edit]
"In effect, the [motile cilium] is a nanomachine composed of perhaps over 600 proteins in molecular complexes, many of which also function independently as nanomachines." Cilia "function as mechano- or chemosensors and as a cellular global positioning system to detect changes in the surrounding environment." For example, ciliary signaling plays a role in the initiation of cellular replacement after cell damage.[9]
In addition to this sensory role mediating specific signaling cues, cilia play "a secretory role in which a soluble protein is released to have an effect downstream of the fluid flow" in epithelial cells, and can of course mediate fluid flow directly in the case of motile cilia.[1] Primary cilia in the retina play a role in transferring nourishment to the non-vascularized rod and cone cells from the vascularized cells several micrometres behind the surface of the retina.
Signal transduction pathways involved include the Hedgehog signaling pathway and the Wnt signaling pathway.[10]
Dysfunctional cilia can lead to:
* Chemosensation abnormalities,[11] typically via ciliated epithelial cellular dysfunction.[1]
* Defective thermosensation or mechanosensation,[12] often via ciliated epithelial cellular dysfunction.[1]
* Cellular motility dysfunction[11]
* Issues with displacement of extracellular fluid[11]
* Paracrine signal transduction abnormalities[1][11]
In organisms of normal health, cilia are critical for:[13]
* development
* homeostasis
* reproduction
## Genetics[edit]
"Just as different genes can contribute to similar diseases, so the same genes and families of genes can play a part in a range of different diseases." For example, in just two of the diseases caused by malfunctioning cilia, Meckel–Gruber syndrome and Bardet–Biedl syndrome, patients who carry mutations in genes associated with both diseases "have unique symptoms that are not seen in either condition alone." The genes linked to the two different conditions "interact with each other during development." Systems biologists are endeavoring to define functional modules containing multiple genes and then look at disorders whose phenotypes fit into such modules.[14]
A particular phenotype can overlap "considerably with several conditions (ciliopathies) in which primary cilia are also implicated in pathogenicity. One emerging aspect is the wide spectrum of ciliopathy gene mutations found within different diseases."[8]
## List of ciliopathies[edit]
"The phenotypic parameters that define a ciliopathy may be used to both recognize the cellular basis of a number of genetic disorders and to facilitate the diagnosis and treatment of some diseases of unknown" cause.[6]
### Known ciliopathies[edit]
Condition OMIM Gene(s) Systems/organs affected
Alström syndrome[6][1] 203800 ALMS1
Asphyxiating thoracic dysplasia (Jeune syndrome)[6][15] 208500
Bardet–Biedl syndrome[6][5][8] 209900 BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12
Ellis–van Creveld syndrome[15] 225500 EVC, EVC2
Joubert syndrome[6][8] 213300 INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, BRCC3 Brain
Leber congenital amaurosis[15] 204000 GUCY2D, RPE65
McKusick–Kaufman syndrome[15] 236700 MKKS
Meckel–Gruber syndrome[6][8][16] 249000 MKS1, TMEM67, TMEM216, CEP290, RPGRIP1L, CC2D2A Liver, heart, bone
Nephronophthisis[6][5][8] 256100 NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L Kidney
Orofaciodigital syndrome 1[1][5] 311200 OFD1
Polycystic kidney disease[6][5] (ADPKD and ARPKD)[17] 173900 PKD1, PKD2, PKHD1 Kidney
Primary ciliary dyskinesia (Kartagener syndrome)[6] 244400 DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50
Senior–Løken syndrome[5] 266900 NPHP1, NPHP4, IQCB1, CEP290, SDCCAG8 Eye
Sensenbrenner syndrome (cranioectodermal dysplasia)[15] 218330 IFT122
Short rib–polydactyly syndrome[15] 613091 DYNC2H1
? ? IFT88 Novel form of congenital anosmia, reported in 2012[18]
### Likely ciliopathies[edit]
Condition OMIM Gene(s) Systems/organs affected
Acrocallosal syndrome[15] 200990 KIF7, GLI3
Acromelic frontonasal dysostosis[15] 603671 ZSWIM6
Arima syndrome[15] 243910
Biemond syndrome[15] 113400
COACH syndrome[15] 216360 TMEM67, CC2D2A, RPGRIP1L
Conorenal syndrome[19][15] 266920
Greig cephalopolysyndactyly syndrome[15] 175700 GLI3
Hydrolethalus syndrome[15] 236680 HYLS1
Johanson–Blizzard syndrome[15] 243800 UBR1
Mohr syndrome (oral-facial-digital syndrome type 2)[15] 252100
Neu–Laxova syndrome[15] 256520 PHGDH, PSAT1, PSPH
Opitz G/BBB syndrome[15] 300000 MID1
Pallister–Hall syndrome[15] 146510 GLI3
Papillorenal syndrome[15] 120330 PAX2
Renal–hepatic–pancreatic dysplasia[15] 208540 NPHP3
Varadi–Papp syndrome (oral-facial-digital syndrome type 6)[15] 277170
### Possible ciliopathies[edit]
Condition OMIM Gene(s) Systems/organs affected
Acrofacial dysostosis[15]
Acrofrontofacionasal dysostosis 2[15] 239710
Adams–Oliver syndrome[15] 100300 ARHGAP31, DOCK6, RBPJ, EOGT, NOTCH1, DLL4
Asplenia with cardiovascular anomalies (Ivemark syndrome)[15] 208530
Autosomal recessive spastic paraplegia[15]
Barakat syndrome (HDR syndrome)[15] 146255 GATA3
Basal cell nevus syndrome[15] 109400 PTCH1, PTCH2, SUFU
Branchio‐oculo‐facial syndrome[15] 113620 TFAP2A
C syndrome (Opitz trigonocephaly)[15] 211750 CD96
Carpenter syndrome[15] 201000 RAB23
Cephaloskeletal dysplasia (microcephalic osteodysplastic primordial dwarfism type 1)[15] 210710 RNU4ATAC
Cerebrofaciothoracic dysplasia[15] 213980 TMCO1
Cerebrofrontofacial syndrome (Baraitser–Winter syndrome)[15] 243310 ACTB
Cerebrooculonasal syndrome[15] 605627
Autosomal recessive spastic ataxia of Charlevoix-Saguenay[15] 270550 SACS
Chondrodysplasia punctata 2[15] 302960 EBP
Choroideremia[15] 303100 CHM
Chudley–McCullough syndrome[15] 604213 GPSM2
C‐like syndrome[15] 605039 ASXL1
Coffin–Siris syndrome[15] 135900 ARID1B, SOX11, ARID2
Cohen syndrome[15] 216550 VPS13B
Craniofrontonasal dysplasia[15] 304110 EFNB1
Dysgnathia complex[15] 202650
Ectrodactyly–ectodermal dysplasia–cleft syndrome type 1[15] 129900
Endocrine–cerebroosteodysplasia syndrome[15] 612651 ICK
Focal dermal hypoplasia[15] 305600 PORCN
Frontonasal dysplasia[15] 136760 ALX3, ALX4, ALX1
Fryns microphthalmia syndrome[15] 600776
Fryns syndrome[15] 229850
Genitopatellar syndrome[15] 606170 KAT6B
Hemifacial microsomia[15] 164210
Hypothalamic hamartomas[15] 241800
Johnson neuroectodermal syndrome[15] 147770
Juvenile myoclonic epilepsy[20] 254770
Kabuki syndrome[15] 147920 KMT2D, KDM6A
Kallmann syndrome[15] 308700 ANOS1
Lenz–Majewski hyperostotic dwarfism[15] 151050 PTDSS1
Lissencephaly 3[15] 611603 TUBA1A
Marden–Walker syndrome[6][15] 248700 PIEZO2
MASA syndrome[15] 303350 L1CAM
Microhydranencephaly[15] 605013 NDE1
Mowat–Wilson syndrome[15] 235730 ZEB2
NDH syndrome[15] 610199 GLIS3
Oculoauriculofrontonasal syndrome[15] 601452
Oculocerebrocutaneous syndrome[15] 164180
Oculodentodigital dysplasia[15] 164200 GJA1
Optiz–Kaveggia syndrome[15] 305450 MED12
Otopalatodigital syndrome 2[15] 304120 FLNA
Periventricular heterotopia X‐linked[15] 300049 FLNA
Perlman syndrome[15] 267000 DIS3L2
Pitt–Hopkins syndrome[15] 610954 TCF4
Polycystic liver disease[6] 174050
Proteus syndrome[15] 176920 AKT1
Pseudotrisomy 13[15] 264480
Retinal cone dystrophy 1[15] 180020
Some forms of retinitis pigmentosa[6][21][15] 268000
Robinow syndrome[15] 268310 ROR2
Rubinstein–Taybi syndrome[15] 180849 CREBBP
Sakoda complex[15] 610871
Schinzel–Giedion syndrome[15] 269150 SETBP1
Split-hand/foot malformation 3[15] 246560
Spondyloepiphyseal dysplasia congenita[15] 183900 COL2A1
Thanatophoric dysplasia[15] 187600 FGFR3
Townes–Brocks syndrome[15] 107480 SALL1, DACT1
Tuberous sclerosis[15] 191100 TSC1, TSC2
VATER association[15] 192350
Ven den Ende–Gupta syndrome[15] 600920 SCARF2
Visceral heterotaxy[15] 606325
Walker–Warburg syndrome[15] 236670
Warburg Micro syndrome[15] 615663 RAB3GAP1
X‐linked congenital hydrocephalus[15] 307000 L1CAM
X‐linked lissencephaly[15] 300067 DCX
Young–Simpson syndrome[15] 603736 KAT6B
## History[edit]
Although non-motile or primary cilia were first described in 1898, they were largely ignored by biologists. However, microscopists continued to document their presence in the cells of most vertebrate organisms. The primary cilium was long considered—with few exceptions—to be a largely useless evolutionary vestige, a vestigial organelle. Recent research has revealed that cilia are essential to many of the body's organs.[22] These primary cilia play important roles in chemosensation, mechanosensation, and thermosensation. Cilia may thus be "viewed as sensory cellular antennae that coordinate a large number of cellular signaling pathways, sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation."[9]
Recent advances in mammalian genetic research have made possible the understanding of a molecular basis for a number of dysfunctional mechanisms in both motile and primary cilia structures of the cell.[23] A number of critical developmental signaling pathways essential to cellular development have been discovered. These are principally but not exclusively found in the non-motile or primary cilia. A number of common observable characteristics of mammalian genetic disorders and diseases are caused by ciliary dysgenesis and dysfunction. Once identified, these characteristics thus describe a set of hallmarks of a ciliopathy.[6]
Cilia have recently been implicated in a wide variety of human genetic diseases by "the discovery that numerous proteins involved in mammalian disease localize to the basal bodies and cilia." For example, in just a single area of human disease physiology, cystic renal disease, cilia-related genes and proteins have been identified to have causal effect in polycystic kidney disease, nephronophthisis, Senior–Løken syndrome type 5, orofaciodigital syndrome type 1 and Bardet–Biedl syndrome.[5]
## References[edit]
1. ^ a b c d e f g Adams, M.; Smith, U. M.; Logan, C. V.; Johnson, C. A. (2008). "Recent advances in the molecular pathology, cell biology and genetics of ciliopathies". Journal of Medical Genetics. 45 (5): 257–267. doi:10.1136/jmg.2007.054999. PMID 18178628.
2. ^ Lee JH, Gleeson JG (May 2010). "The role of primary cilia in neuronal function". Neurobiol. Dis. 38 (2): 167–72. doi:10.1016/j.nbd.2009.12.022. PMC 2953617. PMID 20097287.
3. ^ Powles-Glover, N (September 2014). "Cilia and ciliopathies: classic examples linking phenotype and genotype-an overview". Reproductive Toxicology (Elmsford, N.Y.). 48: 98–105. doi:10.1016/j.reprotox.2014.05.005. PMID 24859270.
4. ^ Hurd TW, Hildebrandt F (2011). "Mechanisms of Nephronophthisis and Related Ciliopathies". Nephron Exp. Nephrol. 118 (1): e9–e14. doi:10.1159/000320888. PMC 2992643. PMID 21071979.
5. ^ a b c d e f g Davenport, J. R. (2005). "An incredible decade for the primary cilium: A look at a once-forgotten organelle". AJP: Renal Physiology. 289 (6): F1159–F1169. doi:10.1152/ajprenal.00118.2005. PMID 16275743.
6. ^ a b c d e f g h i j k l m n o Badano JL, Mitsuma N, Beales PL, Katsanis N (2006). "The ciliopathies: an emerging class of human genetic disorders". Annu Rev Genom Hum Genet. 7: 125–48. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803.
7. ^ Tan K, Liu P, Pang L, Yang W, Hou F (2018) A human ciliopathy with polycystic ovarian syndrome and multiple subcutaneous cysts: A rare case report. Medicine (Baltimore) 97(50)
8. ^ a b c d e f Ross, Allison; PL Beales; J Hill (2008). The Clinical, Molecular, and Functional Genetics of Bardet-Biedl Syndrome, in Genetics of Obesity Syndromes. Oxford University Press. p. 177. ISBN 978-0-19-530016-1. Retrieved 2009-07-01.
9. ^ a b Satir, Peter; Søren T. Christensen (2008-03-26). "Structure and function of mammalian cilia". Histochemistry and Cell Biology. Springer Berlin / Heidelberg. 129 (6): 687–693. doi:10.1007/s00418-008-0416-9. PMC 2386530. PMID 18365235. 1432-119X.
10. ^ D'Angelo A, Franco B (2009). "The dynamic cilium in human diseases". Pathogenetics. 2 (1): 3. doi:10.1186/1755-8417-2-3. PMC 2694804. PMID 19439065.
11. ^ a b c d "Ciliary proteome database, v3". Database introduction. Johns Hopkins University. 2008. Retrieved 2009-01-07.
12. ^ Tan PL, Barr T, Inglis PN, et al. (2007). "Loss of Bardet–Biedl syndrome proteins causes defects in peripheral sensory innervation and function". Proc. Natl. Acad. Sci. U.S.A. 104 (44): 17524–9. doi:10.1073/pnas.0706618104. PMC 2077289. PMID 17959775.
13. ^ of organs The Ciliary Proteome, Ciliaproteome V3.0 - Home Page, accessed 2010-06-11.
14. ^ Hayden EC (2008). "Biological tools revamp disease classification". Nature. 453 (7196): 709. doi:10.1038/453709a. PMID 18528360.
15. ^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap aq ar as at au av aw ax ay az ba bb bc bd be bf bg bh bi bj bk bl bm bn bo bp bq br bs bt bu bv bw bx by bz ca cb cc cd ce cf cg ch ci cj ck cl cm cn co Baker, Kate; Beales, Philip L. (2009). "Making sense of cilia in disease: The human ciliopathies". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 151C (4): 281–295. doi:10.1002/ajmg.c.30231. ISSN 1552-4876. PMID 19876933.
16. ^ Kyttälä, Mira (May 2006). "Identification of the Meckel Syndrome Gene (MKS1) Exposes a Novel Ciliopathy" (PDF). National Public Health Institute, Helsinki. Archived from the original (PDF) on 2006-07-21. Retrieved 2008-07-06. Cite journal requires `|journal=` (help)
17. ^ Gunay-Aygun M (November 2009). "Liver and Kidney Disease in Ciliopathies". Am J Med Genet C Semin Med Genet. 151C (4): 296–306. doi:10.1002/ajmg.c.30225. PMC 2919058. PMID 19876928.
18. ^ Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model
19. ^ Watnick T, Germino G (August 2003). "From cilia to cyst". Nat. Genet. 34 (4): 355–6. doi:10.1038/ng0803-355. PMID 12923538.
20. ^ Delgado-Escueta AV (2007). "Advances in Genetics of Juvenile Myoclonic Epilepsies". Epilepsy Curr. 7 (3): 61–7. doi:10.1111/j.1535-7511.2007.00171.x. PMC 1874323. PMID 17520076.
21. ^ Khanna, H.; Davis, E. E.; Murga-Zamalloa, C. A.; et al. (2009). "A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies". Nature Genetics. 41 (6): 739–745. doi:10.1038/ng.366. PMC 2783476. PMID 19430481.
22. ^ Gardiner, Mary Beth (September 2005). "The Importance of Being Cilia". HHMI Bulletin. Howard Hughes Medical Institute. 18 (2). Archived from the original on 2010-03-11. Retrieved 2008-07-26.
23. ^ Lancaster MA, Gleeson JG (June 2009). "The primary cilium as a cellular signaling center: lessons from disease". Curr. Opin. Genet. Dev. 19 (3): 220–9. doi:10.1016/j.gde.2009.04.008. PMC 2953615. PMID 19477114.
## External links[edit]
Classification
D
* MeSH: D002925
* DiseasesDB: 29887
External resources
* Orphanet: 363250
* The Ciliary Proteome Web Page at Johns Hopkins
* v
* t
* e
Diseases of cilia
Structural
* receptor: Polycystic kidney disease
* cargo: Asphyxiating thoracic dysplasia
* basal body: Bardet–Biedl syndrome
* mitotic spindle: Meckel syndrome
* centrosome: Joubert syndrome
Signaling
* Nephronophthisis
Other/ungrouped
* Alström syndrome
* Primary ciliary dyskinesia
* Senior–Løken syndrome
* Orofaciodigital syndrome 1
* McKusick–Kaufman syndrome
* Autosomal recessive polycystic kidney
See also: ciliary proteins
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ciliopathy
|
c4277690
| 28,263 |
wikipedia
|
https://en.wikipedia.org/wiki/Ciliopathy
| 2021-01-18T19:02:38 |
{"mesh": ["D000072661"], "orphanet": ["363250"], "synonyms": [], "wikidata": ["Q203031"]}
|
Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women). Such tumors are called germ cell tumors. Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy. Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation. Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy. The cause of polyembryoma is not yet known.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Polyembryoma
|
c0334518
| 28,264 |
gard
|
https://rarediseases.info.nih.gov/diseases/9621/polyembryoma
| 2021-01-18T17:58:15 |
{"umls": ["C0334518"], "synonyms": ["Gonadal polyembryoma"]}
|
Pectus carinatum
Other namesPigeon chest, pectus cavernatum, bird chest, convex chest
Severe case of pectus carinatum
SpecialtyOrthopedics
Pectus carinatum, also called pigeon chest, is a malformation of the chest characterized by a protrusion of the sternum and ribs. It is distinct from the related malformation pectus excavatum.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 4.1 External bracing technique
* 4.2 Surgical
* 4.3 Other options
* 5 Prognosis
* 6 Epidemiology
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (December 2016) (Learn how and when to remove this template message)
People with pectus carinatum usually develop normal hearts and lungs, but the malformation may prevent these from functioning optimally. In moderate to severe cases of pectus carinatum, the chest wall is rigidly held in an outward position. Thus, respirations are inefficient and the individual needs to use the accessory muscles for respiration, rather than normal chest muscles, during strenuous exercise. This negatively affects gas exchange and causes a decrease in stamina. Children with pectus malformations often tire sooner than their peers due to shortness of breath and fatigue. Commonly concurrent is mild to moderate asthma.
Some children with pectus carinatum also have scoliosis (i.e., curvature of the spine). Some have mitral valve prolapse, a condition in which the heart mitral valve functions abnormally. Connective tissue disorders involving structural abnormalities of the major blood vessels and heart valves are also seen. Although rarely seen, some children have other connective tissue disorders, including arthritis, visual impairment and healing impairment.
Apart from the possible physiologic consequences, pectus malformations can have a significant psychologic impact. Some people, especially those with milder cases, live happily with pectus carinatum. For others, though, the shape of the chest can damage their self-image and confidence, possibly disrupting social connections and causing them to feel uncomfortable throughout adolescence and adulthood. As the child grows older, bodybuilding techniques may be useful for balancing visual impact.[citation needed]
A less common variant of pectus carinatum is pectus arcuatum (also called type 2 pectus excavatum, chondromanubrial malformation or Currarino–Silverman syndrome or pouter pigeon malformation), which produces a manubrial and upper sternal protrusion,[1] particularly also at the sternal angle.[2] Pectus arcuatum is often confused with a combination of pectus carinatum and pectus excavatum, but in pectus arcuatum the visual appearance is characterized by a protrusion of the costal cartilages and there is no depression of the sternum.[3]
## Causes[edit]
This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (December 2016) (Learn how and when to remove this template message)
Pectus carinatum is an overgrowth of costal cartilage causing the sternum to protrude forward. It primarily occurs among four different patient groups, and males are more frequently affected than females. Most commonly, pectus carinatum develops in 11-to-14-year-old pubertal males undergoing a growth spurt. Some parents report that their child's pectus carinatum seemingly popped up overnight. Second most common is the presence of pectus carinatum at or shortly after birth. The condition may be evident in newborns as a rounded anterior chest wall. As the child reaches age 2 or 3 years of age, the outward sternal protrusion becomes more pronounced. Pectus carinatum can also be caused by vitamin D deficiency in children (Rickets) due to deposition of unmineralized osteoid. Least common is a pectus carinatum malformation following open-heart surgery or in children with poorly controlled bronchial asthma.
Pectus carinatum is generally a solitary, non-syndromic abnormality. However, the condition may be present in association with other syndromes: Turner syndrome, Noonan syndrome, Loeys–Dietz syndrome, Marfan syndrome, Ehlers–Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome (LEOPARD syndrome), Sly syndrome (mucopolysaccharidosis type VII), and scoliosis.
In about 25% of cases of pectus carinatum, the patient has a family member with the condition.
## Diagnosis[edit]
The pectus carinatum can be easily diagnosed by certain tests like a CT scan (2D and 3D). It may then be found out that the rib cage is in normal structure. If there is more than average growth of sternum than pectus carinatum protrudes.[clarification needed] Also it is of two types, as pectus carinatum is symmetrical or unsymmetrical. On the basis of that further treatment is given to the patient.[citation needed]
## Treatment[edit]
### External bracing technique[edit]
The use of orthotic bracing, pioneered by Sydney Haje as of 1977, is finding increasing acceptance as an alternative to surgery in select cases of pectus carinatum.[4] In children, teenagers, and young adults who have pectus carinatum and are motivated to avoid surgery, the use of a customized chest-wall brace that applies direct pressure on the protruding area of the chest produces excellent outcomes. Willingness to wear the brace as required is essential for the success of this treatment approach. The brace works in much the same way as orthodontics (braces that correct the alignment of teeth). The brace consists of front and back compression plates that are anchored to aluminum bars. These bars are bound together by a tightening mechanism which varies from brace to brace. This device is easily hidden under clothing and must be worn from 14 to 24 hours a day. The wearing time varies with each brace manufacturer and the managing physicians protocol, which could be based on the severity of the carinatum malformation (mild moderate severe) and if it is symmetric or asymmetric.[citation needed]
Depending on the manufacturer and/or the patient's preference, the brace may be worn on the skin or it may be worn over a body 'sock' or sleeve called a Bracemate, specifically designed to be worn under braces. A physician or orthotist or brace manufacturer's representative can show how to check to see if the brace is in correct position on the chest.[citation needed]
Bracing is becoming more popular over surgery for pectus carinatum, mostly because it eliminates the risks that accompany surgery. The prescribing of bracing as a treatment for pectus carinatum has 'trickled down' from both paediatric and thoracic surgeons to the family physician and pediatricians again due to its lower risks and well-documented very high success results. The pectus carinatum guideline of 2012 of the American Pediatric Surgical Association has stated: "As reconstructive therapy for the compliant pectus [carinatum] malformation, nonoperative compressive orthotic bracing is usually an appropriate first line of therapy as it does not preclude the operative option. For appropriate candidates, orthotic bracing of chest wall malformations can reasonably be expected to prevent worsening of the malformation and often results in a lasting correction of the malformation. Orthotic bracing is often successful in prepubertal children whose chest wall is compliant. Expert opinion suggests that the noncompliant chest wall malformation or significant asymmetry of the pectus carinatum malformation caused by a concomitant excavatum-type malformation may not respond to orthotic bracing."[5]
Regular supervision during the bracing period is required for optimal results. Adjustments may be needed to the brace as the child grows and the pectus improves.[citation needed]
### Surgical[edit]
For patients with severe pectus carinatum, surgery may be necessary. However bracing could and may still be the first line of treatment. Some severe cases treated with bracing may result in just enough improvement that patient is happy with the outcome and may not want surgery afterwards. If bracing should fail for whatever reason then surgery would be the next step. The two most common procedures are the Ravitch technique and the Reverse Nuss procedure.[citation needed]
A modified Ravitch technique uses bioabsorbable material and postoperative bracing, and in some cases a diced rib cartilage graft technique.[6]
The Nuss was developed by Donald Nuss at the Children's Hospital of the King's Daughters in Norfolk, Va. The Nuss is primarily used for Pectus Excavatum, but has recently been revised for use in some cases of PC, primarily when the malformation is symmetrical.[citation needed]
### Other options[edit]
After adolescence, some men and women use bodybuilding as a means to hide their malformation. Some women find that their breasts, if large enough, serve the same purpose. Some plastic surgeons perform breast augmentation to disguise mild to moderate cases in women. Bodybuilding is suggested for people with symmetrical pectus carinatum.[7]
## Prognosis[edit]
Pectus malformations usually become more severe during adolescent growth years and may worsen throughout adult life. The secondary effects, such as scoliosis and cardiovascular and pulmonary conditions, may worsen with advancing age.[citation needed]
Body building exercises (often attempted to cover the defect with pectoral muscles) will not alter the ribs and cartilage of the chest wall, and are generally considered not harmful.[citation needed]
Most insurance companies no longer consider chest wall malformations like pectus carinatum to be purely cosmetic conditions. While the psychologic impact of any malformation is real and must be addressed, the physiological concerns must take precedence. The possibility of lifelong cardiopulmonary difficulties is serious enough to warrant a visit to a thoracic surgeon.[citation needed]
## Epidemiology[edit]
Pectus malformations are common; about 1 in 400 people have a pectus disorder.[8]
Pectus carinatum is rarer than pectus excavatum, another pectus disorder, occurring in only about 20% of people with pectus malformations.[8] About four out of five patients are males.[9]
## See also[edit]
* Pectus excavatum
## References[edit]
1. ^ Restrepo CS, Martinez S, Lemos DF, Washington L, McAdams HP, Vargas D, Lemos JA, Carrillo JA, Diethelm L (2009). "Imaging appearances of the sternum and sternoclavicular joints". Radiographics. 29 (3): 839–59. doi:10.1148/rg.293055136. PMID 19448119.
2. ^ Anton H. Schwabegger (15 September 2011). Congenital Thoracic Wall Deformities: Diagnosis, Therapy and Current Developments. Springer Science & Business Media. pp. 38–. ISBN 978-3-211-99138-1.
3. ^ Vladimir Kuzmichev, Ksenia Ershova, Ruben Adamyan, Surgical correction of pectus arcuatum, Journal of Visualized Surgery, March 2016, doi: 10.21037/jovs.2016.02.28
4. ^ Desmarais TJ, Keller MS (2013). "Pectus carinatum". Current Opinion in Pediatrics (Review). 25 (3): 375–81. doi:10.1097/MOP.0b013e3283604088. PMID 23657247.
5. ^ "Pectus Carinatum Guideline – Approved by the APSA Board of Governors" (PDF). American Pediatric Surgical Association. 8 August 2012. Retrieved 17 April 2016.
6. ^ Del Frari B, Sigl S, Schwabegger AH (2016). "Complications Related to Pectus Carinatum Correction: Lessons Learned from 15 Years' Experience. Management and Literature Review". Plastic and Reconstructive Surgery (Review). 138 (2): 317e–29e. doi:10.1097/PRS.0000000000002414. PMID 27465193.
7. ^ carinatum.com, Pectus Carinatum Exercise.
8. ^ a b "Pediatric Surgery | Mattel Children's Hospital UCLA - Los Angeles, CA". Surgery.ucla.edu. Archived from the original on 2007-09-01. Retrieved 2011-08-31.
9. ^ "Pectus Carinatum, Cincinnati Children's Hospital Medical Center". Cincinnatichildrens.org. 2007-09-26. Retrieved 2011-08-31.
## External links[edit]
Classification
D
* ICD-10: Q67.7
* ICD-9-CM: 754.82
* MeSH: D066166
* DiseasesDB: 29402
External resources
* MedlinePlus: 003321
* eMedicine: ped/1803
* v
* t
* e
Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality
Appendicular
limb / dysmelia
Arms
clavicle / shoulder
* Cleidocranial dysostosis
* Sprengel's deformity
* Wallis–Zieff–Goldblatt syndrome
hand deformity
* Madelung's deformity
* Clinodactyly
* Oligodactyly
* Polydactyly
Leg
hip
* Hip dislocation / Hip dysplasia
* Upington disease
* Coxa valga
* Coxa vara
knee
* Genu valgum
* Genu varum
* Genu recurvatum
* Discoid meniscus
* Congenital patellar dislocation
* Congenital knee dislocation
foot deformity
* varus
* Club foot
* Pigeon toe
* valgus
* Flat feet
* Pes cavus
* Rocker bottom foot
* Hammer toe
Either / both
fingers and toes
* Polydactyly / Syndactyly
* Webbed toes
* Arachnodactyly
* Cenani–Lenz syndactylism
* Ectrodactyly
* Brachydactyly
* Stub thumb
reduction deficits / limb
* Acheiropodia
* Ectromelia
* Phocomelia
* Amelia
* Hemimelia
multiple joints
* Arthrogryposis
* Larsen syndrome
* RAPADILINO syndrome
Axial
Skull and face
Craniosynostosis
* Scaphocephaly
* Oxycephaly
* Trigonocephaly
Craniofacial dysostosis
* Crouzon syndrome
* Hypertelorism
* Hallermann–Streiff syndrome
* Treacher Collins syndrome
other
* Macrocephaly
* Platybasia
* Craniodiaphyseal dysplasia
* Dolichocephaly
* Greig cephalopolysyndactyly syndrome
* Plagiocephaly
* Saddle nose
Vertebral column
* Spinal curvature
* Scoliosis
* Klippel–Feil syndrome
* Spondylolisthesis
* Spina bifida occulta
* Sacralization
Thoracic skeleton
ribs:
* Cervical
* Bifid
sternum:
* Pectus excavatum
* Pectus carinatum
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Pectus carinatum
|
c0158731
| 28,265 |
wikipedia
|
https://en.wikipedia.org/wiki/Pectus_carinatum
| 2021-01-18T18:45:50 |
{"gard": ["9656"], "mesh": ["D066166"], "umls": ["C0158731"], "icd-9": ["754.82"], "icd-10": ["Q67.7"], "wikidata": ["Q164218"]}
|
## Summary
### Clinical characteristics.
Achondroplasia is the most common cause of disproportionate short stature. Affected individuals have rhizomelic shortening of the limbs, macrocephaly, and characteristic facial features with frontal bossing and midface retrusion. In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed. Intelligence and life span are usually near normal, although craniocervical junction compression increases the risk of death in infancy. Additional complications include obstructive sleep apnea, middle ear dysfunction, kyphosis, and spinal stenosis.
### Diagnosis/testing.
Achondroplasia can be diagnosed by characteristic clinical and radiographic findings in most affected individuals. In individuals in whom there is diagnostic uncertainty or who have atypical findings, identification of a heterozygous pathogenic variant in FGFR3 can establish the diagnosis.
### Management.
Treatment of manifestations: Ventriculoperitoneal shunt may be required for increased intracranial pressure; suboccipital decompression as indicated for signs and symptoms of craniocervical junction compression; adenotonsillectomy, positive airway pressure, and, rarely, tracheostomy to correct obstructive sleep apnea; pressure-equalizing tubes for middle ear dysfunction; monitor and treat obesity; evaluation and treatment by an orthopedist if progressive bowing of the legs arises; spinal surgery may be needed for severe, persistent kyphosis; surgery to correct spinal stenosis in symptomatic adults; modification in the school and work setting to optimize function; educational support in socialization and school adjustment.
Surveillance: Monitor height, weight, and head circumference in childhood using growth curves standardized for achondroplasia; evaluation of developmental milestones throughout infancy and childhood using achondroplasia-specific standards; baseline neuroimaging of craniocervical junction and brain in infancy; neurologic examinations monitoring for signs of cervical myelopathy; monitor for signs and symptoms of sleep apnea; hearing evaluation as a newborn and tympanometric and behavioral audiometric evaluation by age approximately one year; monitor for middle ear problems or evidence of hearing loss in childhood; clinical assessment for kyphosis and bowed legs, with radiographic evaluation and referral to an orthopedist if necessary; in adults, clinical history and neurologic examination to screen for spinal stenosis with development of any new signs or symptoms or at least every three to five years; discuss social adjustment at each visit with primary care provider.
Agents/circumstances to avoid: Rear-facing car seats should be used as long as possible to avoid injury from motor vehicle accident. Avoid soft-back infant seats and front carriers without a firm back. Avoid activities in which there is risk of injury to the craniocervical junction, such as collision sports; use of a trampoline; diving from diving boards; vaulting in gymnastics; and hanging upside down from the knees or feet on playground equipment (due to risk of falling onto the head or neck).
Pregnancy management: Pregnant women with achondroplasia must undergo cesarean section delivery because of small pelvic size.
### Genetic counseling.
Achondroplasia is inherited in an autosomal dominant manner. Around 80% of individuals with achondroplasia have parents with average stature and have achondroplasia as the result of a de novo pathogenic variant. Such parents have a very low risk of having another child with achondroplasia. An individual with achondroplasia who has a reproductive partner with average stature is at 50% risk in each pregnancy of having a child with achondroplasia. When both parents have achondroplasia, the risk to their offspring of having average stature is 25%; of having achondroplasia, 50%; and of having homozygous achondroplasia (a lethal condition), 25%. If the proband and the proband's reproductive partner are affected with different dominantly inherited skeletal dysplasias, genetic counseling becomes more complicated because of the risk of inheriting two dominant skeletal dysplasias. If the FGFR3 pathogenic variant has been identified in the affected parent or parents, prenatal testing for pregnancies at increased risk for achondroplasia is possible.
## Diagnosis
Both the clinical and radiologic features of achondroplasia have been well defined [Langer et al 1967], although no formal diagnostic algorithms have been published.
### Suggestive Findings
The diagnosis of achondroplasia should be suspected in the newborn with proximal shortening of the arms, large head, narrow chest, and short fingers. When there is clinical suspicion, radiographic features can confirm the diagnosis; neonatal radiographs will show square ilia and horizontal acetabula, narrow sacrosciatic notch, proximal radiolucency of the femurs, generalized metaphyseal abnormality, and decreasing interpedicular distance caudally.
Features that may be seen at any age
* Disproportionate short stature
* Macrocephaly with frontal bossing
* Midface retrusion and depressed nasal bridge
* Rhizomelic (proximal) shortening of the arms with redundant skin folds on limbs
* Limitation of elbow extension
* Brachydactyly
* Trident configuration of the hands
* Genu varum (bowlegs)
* Thoracolumbar kyphosis (principally in infancy)
* Exaggerated lumbar lordosis, which develops when walking begins
Radiographic findings
* Short, robust tubular bones
* Narrowing of the interpedicular distance of the caudal spine
* Square ilia and horizontal acetabula
* Narrow sacrosciatic notch
* Proximal femoral radiolucency
* Mild, generalized metaphyseal changes
### Establishing the Diagnosis
The diagnosis of achondroplasia can be established in a proband solely on the basis of clinical and radiographic features described in Suggestive Findings.
Those with typical findings generally do not need molecular confirmation of the diagnosis. In those in whom there is any uncertainty, identification of a heterozygous pathogenic variant in FGFR3 by molecular genetic testing can establish the diagnosis (see Table 1).
Molecular genetic testing approaches can include targeted analysis and use of a multigene panel.
Targeted analysis for the two common pathogenic variants should be pursued first:
* c.1138G>A (p.Gly380Arg)
* c.1138G>C (p.Gly380Arg)
Note: Since achondroplasia occurs through a gain-of-function mechanism and large intragenic deletion or duplication has not been reported, testing for intragenic deletions or duplications is unlikely to identify a disease-causing variant.
A multigene panel that includes FGFR3 and other genes of interest (see Differential Diagnosis) may be performed next. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
### Table 1.
Molecular Genetic Testing Used in Achondroplasia
View in own window
Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
FGFR3Targeted analysis for pathogenic variants~99% 3
Sequence analysis 4>99% 5, 6
1\.
See Table A. Genes and Databases for chromosome locus and protein.
2\.
See Molecular Genetics for information on variants detected in this gene.
3\.
Pathogenic variant c.1138G>A (p.Gly380Arg) is identified in approximately 98% of individuals with achondroplasia; pathogenic variant c.1138G>C (p.Gly380Arg) is identified in approximately 1% of individuals with achondroplasia.
4\.
Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.
5\.
Includes the two pathogenic variants detected by targeted analysis
6\.
Shiang et al [1994], Bellus et al [1995]
## Clinical Characteristics
### Clinical Description
Individuals with achondroplasia have short stature caused by rhizomelic shortening of the limbs, macrocephaly, characteristic facies with frontal bossing and midface retrusion, exaggerated lumbar lordosis, limitation of elbow extension and rotation, genu varum, brachydactyly, and trident appearance of the hands. Excess mobility of the knees, hips, and most other joints is common [Pauli 2019].
Growth. Average adult height for men with achondroplasia is 131±5.6 cm; for women, 124±5.9 cm. Obesity is a major problem in achondroplasia [Hecht et al 1988]. Excessive weight gain is manifest in early childhood. In adults, obesity can aggravate the morbidity associated with lumbar stenosis and contribute to nonspecific joint problems and possibly to early mortality from cardiovascular complications [Wynn et al 2007].
Development. In infancy, mild-to-moderate hypotonia is typical. Infants have difficulty in supporting their heads because of both hypotonia and large head size. That and differences in body habitus cause motor delays and unusual patterns of motor development such as snowplowing (using the head and feet to leverage movement) [Fowler et al 1997, Ireland et al 2010, Ireland et al 2012]. Small joint hypermobility and short fingers can affect fine motor development and delay self-feeding [Ireland et al 2012]. Conductive hearing loss can contribute to delayed speech development [Ireland et al 2012].
Intelligence is normal unless hydrocephalus or other central nervous system complications occur. High-level executive function issues have been reported in some individuals [Wigg et al 2016].
Macrocephaly. Most children with achondroplasia are macrocephalic [Horton et al 1978]. Hydrocephalus requiring treatment, which probably occurs in 5% or fewer [Pauli & Botto 2020], may be caused by increased intracranial venous pressure because of stenosis of the jugular foramina [Pierre-Kahn et al 1980, Steinbok et al 1989]. More recent literature suggests that in some individuals foramen magnum stenosis may contribute to hydrocephalus, which is thus treatable by posterior fossa decompression or endoscopic third ventriculostomy [Etus & Ceylan 2005, Swift et al 2012].
Narrow craniocervical junction. Some infants with achondroplasia die in the first year of life from complications related to the craniocervical junction; population-based studies suggest that this excess risk of death may be as high as 7.5% without assessment and intervention [Hecht et al 1987]. The risk appears to be secondary to central apnea associated with damage to respiratory control centers [Pauli et al 1995], and can be minimized by comprehensive evaluation of every infant with achondroplasia [Trotter et al 2005] and selective neurosurgical intervention [Bagley et al 2006]. With such evaluation and management this risk may be decreased to as little as 0.3% [Hashmi et al 2018]. The best predictors of need for suboccipital decompression include lower-limb hyperreflexia or clonus, central hypopnea demonstrated by polysomnography, and reduced foramen magnum size, as determined by neuroimaging of the craniocervical junction. If computerized tomography (CT) is used, foraminal size can be compared with achondroplasia standards [Hecht et al 1989]. Magnetic resonance (MR) examination provides direct visualization of the cord without radiation exposure, but there are no achondroplasia standards. T2-weighted MRI may show evidence of spinal cord abnormalities, which may guide operative decision making [Shimony et al 2015]. In one study, all children undergoing surgical decompression of the craniocervical junction showed marked improvement of neurologic function [Pauli et al 1995]. Quality-of-life indices determined up to 20 years after such surgery were comparable to quality-of-life indices in those for whom surgery was not indicated in childhood [Ho et al 2004]. A similar mechanism of injury can result in high cervical myelopathy (asymmetric or increased reflexes, weakness, persisting hypotonia, and poor balance) [Hecht et al 1984].
Restrictive pulmonary disease. In infancy a small subset of individuals with achondroplasia have restrictive pulmonary issues. A small chest and increased compliance of the thoracic cage combine to result in smaller lung volumes and restrictive pulmonary disease [Hunter et al 1996b; S Balasubramaniam 2020, unpublished]. Many infants show more rapid desaturations with minor respiratory events (e.g., physiologic periodic breathing or otherwise insignificant obstructive events). A small number have, as a consequence of these features, chronic hypoxemia [Mogayzel et al 1998]. If a young infant has persistent tachypnea, failure to thrive, or evidence of respiratory failure, the polysomnogram obtained for other reasons in infants will show a low baseline oxygen saturation and/or desaturations associated with minimal respiratory irregularities. If such characteristics are recognized, referral to a pediatric pulmonologist is imperative. Treatment may include oxygen supplementation and, in a few, temporary tracheostomy. In virtually all instances, the need for a tracheostomy disappears as the child grows.
Sleep apnea. Obstructive sleep apnea is common in both older children and adults. It arises because of a combination of midface retrusion resulting in smaller airway size [Waters et al 1995], hypertrophy of the lymphatic ring, airway malacia [Dessoffy et al 2014], and, perhaps, abnormal innervation of the airway musculature [Tasker et al 1998].
Clinical signs and symptoms of obstructive sleep apnea may include the following:
* Difficult morning waking
* Excessive daytime somnolence
* Respiratory pauses during sleep
* Loud snoring
* Glottal stops or gasping
* Loud sighs while sleeping
* Poor daytime concentration
* Irritability, fatigue, depression
* Bedwetting
Clinical signs and symptoms of infantile sleep apnea include the following:
* Observed apnea or exaggerated periodic breathing
* Struggling to breathe
* Poor feeding
* Coughing
* Difficulty lying flat to sleep
* Frequent awakenings
Central sleep apnea as well as obstructive sleep apnea may be present in infants. Clinical history is a poor predictor of apnea, and polysomnography should be done [Carroll et al 1995].
Middle ear dysfunction is frequently a problem [Tunkel et al 2012], and if inadequately treated can result in conductive hearing loss of sufficient severity to interfere with language development. More than half of children will require pressure-equalizing tube placement [Berkowitz et al 1991]. Overall, about 40% of individuals with achondroplasia have functionally relevant hearing loss. Expressive language development is also frequently delayed [Ireland et al 2012], although the strength of the relationship between hearing loss and expressive language issues is uncertain.
Bowing of the lower legs is exceedingly common in those with achondroplasia. More than 90% of untreated adults have some degree of bowing [Kopits 1988a]. "Bowing" is actually a complex deformity arising from a combination of lateral bowing, internal tibial torsion, and dynamic instability of the knee [Inan et al 2006].
Kyphosis at the thoracolumbar junction is present in 90%-95% of infants with achondroplasia [Pauli et al 1997]. In about 10% it does not spontaneously resolve and can result in serious neurologic sequelae [Kopits 1988b]. Preventive strategies [Pauli et al 1997, Xu et al 2018] may reduce the need for surgical intervention.
Spinal stenosis. The most common medical complaint in adulthood is symptomatic spinal stenosis involving L1-L4 [Kahanovitz et al 1982, Hoover-Fong et al 2020]. Symptoms range from intermittent, reversible, exercise-induced claudication to severe, irreversible abnormalities of leg function and of continence [Pyeritz et al 1987]. Claudication and stenosis can both result in sensory (numbness, pain, feelings of heaviness) and motor symptoms (weakness, tripping, limited walking endurance). Vascular claudication results from engorged blood vessels after standing and walking and is fully reversible with rest. Spinal stenosis is actual impingement of the spinal cord or nerve root by the stenotic bone of the spinal canal, and symptoms are nonreversible. Symptoms localized to a particular dermatome can result from stenosis of a particular nerve root foramina.
Other orthopedic issues
* Joint laxity. Most joints are hypermobile in childhood. In general, this has minor consequences except for knee instability in a subset of individuals.
* Discoid lateral meniscus. This recently recognized structural anomaly may result in chronic knee pain in some individuals [Akyol et al 2015, Hoernschemeyer et al 2016].
* Arthritis. Constitutive activation of FGFR-3, as in achondroplasia, may protect against development of arthritis [Tang et al 2016].
Acanthosis nigricans may be seen in about 10% of individuals with achondroplasia [Smid et al 2018]. In this population it does not reflect hyperinsulinemia or malignancy.
Prognosis. Increased mortality in adults with achondroplasia has been reported [Wynn et al 2007]. Overall, life expectancy appeared to be decreased by about ten years.
Homozygous achondroplasia, caused by biallelic pathogenic variants at nucleotide 1138 of FGFR3, is a severe disorder with radiologic changes qualitatively different from those of achondroplasia. Early death results from respiratory insufficiency because of the small thoracic cage and neurologic deficit from cervicomedullary stenosis [Hall 1988].
### Genotype-Phenotype Correlations
Because nearly all instances of achondroplasia arise secondary to identical amino acid substitutions, genotype-phenotype correlation related to the primary pathogenic variant is not possible.
### Penetrance
Penetrance is 100%; all individuals who have an FGFR3 heterozygous pathogenic variant associated with achondroplasia have the clinical manifestations of the disorder.
### Nomenclature
Historically, the term "achondroplasia" was initially used to describe all individuals with short-limbed dwarfing disorders. Because achondroplasia is so common compared to other small stature processes, the term "dwarf" was previously used most often to refer to an individual with achondroplasia. Over the past 50 years diagnostic criteria have been available to distinguish true achondroplasia from other, superficially similar processes.
### Prevalence
Achondroplasia is the most common form of inherited disproportionate short stature. Best estimates are that it occurs in 1:26,000-1:28,000 live births [Waller et al 2008].
## Differential Diagnosis
While more than 450 skeletal dysplasias that cause short stature are recognized [Mortier et al 2019], many are extremely rare; and virtually all have clinical and radiographic features that readily distinguish them from achondroplasia. Conditions that may be confused with achondroplasia include the following:
* Hypochondroplasia (also usually caused by pathogenic variants in FGFR3). This distinction is sometimes the most difficult to make. In fact, there appears to be some overlap between the radiologic and clinical phenotypes of these two conditions [Almeida et al 2009].
* Thanatophoric dysplasia
* SADDAN syndrome (OMIM 616482)
* Cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type)
* Other metaphyseal dysplasias
* Pseudoachondroplasia (a clinically and genetically distinct skeletal dysplasia; but the similar nomenclature may cause confusion)
## Management
### Evaluations Following Initial Diagnosis
Clinical manifestations in achondroplasia vary modestly. In order to establish the extent of disease in an individual diagnosed with achondroplasia, the following evaluations are recommended if they have not already been completed:
* Clinical genetics consultation including neurologic exam and, if feasible, consultation with a clinician experienced in caring for children with bone dysplasias
* Documentation of length, weight, and head circumference compared with achondroplasia-specific growth standards
* Assessment of the craniocervical junction including neurologic history and examination, neuroimaging of the craniocervical junction using either CT or MR, and polysomnography as soon after birth as possible. If CT is obtained, compare it to published standards for achondroplasia. When both sagittal and transverse dimension are smaller than -1 standard deviation from the mean for achondroplasia, and clinical features are also present, the individual is at increased risk of requiring decompression surgery [Pauli et al 1995]. If MRI is done, findings including obliteration of the subarachnoid fluid layer, deformation of the cord, or T2 signal abnormality are helpful in determining whether decompression may be needed in combination with clinical features [Pauli 2019, Hoover-Fong et al 2020].
* Baseline neuroimaging of the brain as soon after diagnosis as possible to assess ventricular size
* Audiologic evaluation as a newborn and repeated at age one year. In those in whom diagnosis is delayed, audiologic screen should be completed at diagnosis and if concerns arise [Pauli 2019, Hoover-Fong et al 2020].
### Treatment of Manifestations
Recommendations for health supervision of children with achondroplasia were outlined by the American Academy of Pediatrics Committee on Genetics [Hoover-Fong et al 2020]. These recommendations serve as guidelines and do not replace individual decision making. A recent review [Pauli & Botto 2020] also provides management recommendations. Specialized skeletal dysplasia clinics exist; their recommendations may vary slightly from these general guidelines.
The recommendations include (but are not limited to) the following.
Hydrocephalus. If signs or symptoms of increased intracranial pressure arise (e.g., accelerating head growth, persistently bulging fontanelle, marked increase in superficial venous prominence over the face, irritability, vomiting, vision changes, headache), referral to a neurosurgeon is needed.
The presumed etiology of hydrocephalus in achondroplasia is increased intracranial venous pressure secondary to stenosis of the jugular foramina. Therefore, ventriculoperitoneal shunting has been the standard treatment. However, endoscopic third ventriculostomy may be beneficial in some individuals [Swift et al 2012], implying that other mechanisms, such as obstruction of fourth ventricular exit foramina from the craniocervical stenosis, may be relevant [Etus & Ceylan 2005].
Craniocervical junction constriction. The best predictors of need for suboccipital decompression:
* Lower-limb hyperreflexia or clonus
* Central hypopnea demonstrated by polysomnography
* Reduced foramen magnum size, determined by CT examination of the craniocervical junction and by comparison with the norms for children with achondroplasia [Pauli et al 1995]
* Evidence of spinal cord compression and/or T2-weighted signal abnormality; more recently proposed as another factor to be considered in a decision to operate [Shimony et al 2015, Hoover-Fong et al 2020]
If there is clear indication of symptomatic compression, urgent referral to a pediatric neurosurgeon for decompression surgery should be initiated [Bagley et al 2006].
Obstructive sleep apnea. Treatment may include the following:
* Adenotonsillectomy
* Positive airway pressure
* Tracheostomy for extreme cases
* Weight reduction
Improvement in disturbed sleep and some improvement in neurologic function can result from these interventions [Tenconi et al 2017].
In rare instances in which the obstruction is severe enough to require tracheostomy, surgical intervention to advance the midface has been used to alleviate upper airway obstruction [Elwood et al 2003].
Middle ear dysfunction. Aggressive management of frequent middle ear infections, persistent middle ear fluid, and consequent hearing loss should be undertaken as needed. Long-lasting tubes are recommended because they are frequently needed until age seven or eight years [Pauli 2019].
Implementation of appropriate therapies is warranted at any age if concerns arise [Hoover-Fong et al 2020].
Short stature. A number of studies have assessed growth hormone (GH) therapy as a possible treatment for the short stature of achondroplasia [Miccoli et al 2016, Harada et al 2017].
* In general, these and other series show initial acceleration of growth, but with lessening effect over time.
* On average, only about 3 cm of additional adult height can be expected [Harada et al 2017].
Extended limb lengthening using various techniques remains an option for some. Increases in height of up to 30-35 cm may be obtained [Schiedel & Rodl 2012]. Complications are frequent and may be serious [Chilbule et al 2016].
* Although some have advocated performing these procedures as early as ages six to eight years, many pediatricians, clinical geneticists, and ethicists have advocated postponing such surgery until the young person is able to participate in making an informed decision.
* At least in North America, only a tiny proportion of affected individuals elect to undergo extended limb lengthening. The Medical Advisory Board of Little People of America has published a statement regarding use of extended limb lengthening.
Obesity. Measures to avoid obesity should start in early childhood. Standard treatments for obesity should be effective in people with achondroplasia, although caloric needs are less [Takken et al 2007].
* Standard weight and weight-by-height grids specific for achondroplasia [Hunter et al 1996a, Hoover-Fong et al 2007] should be used to monitor progress. It is important to note that these curves are not ideal weight-for-height curves; they were generated from thousands of data points from individuals with achondroplasia.
* Body mass index (BMI) standards have been generated for children age 16 and under [Hoover-Fong et al 2008, Tofts et al 2017]. BMI has not been standardized for adults with achondroplasia; comparison to average-stature BMI curves will yield misleading results [Schulze et al 2013].
Varus deformity. Annual orthopedic surveillance either by a provider familiar with achondroplasia or an orthopedic surgeon is indicated [Hoover-Fong et al 2020]. Criteria for surgical intervention have been published [Kopits 1980, Pauli & Botto 2020].
Presence of progressive, symptomatic bowing should prompt referral to an orthopedist. Varus deformity alone, without symptoms, does not usually warrant surgical correction. Various interventions may be elected (e.g., guided growth using eight-Plates, valgus-producing and derotational osteotomies). No controlled studies comparing outcomes of treatment options have been completed.
Kyphosis. Infants with achondroplasia frequently develop a flexible kyphosis. A protocol to help prevent the development of a fixed, angular kyphosis is available and includes avoidance of flexible-backed strollers, swings, and carriers. Counsel against unsupported sitting; always apply counter pressure to the back when holding the infant [Pauli et al 1997].
* Kyphosis improves significantly or resolves in the majority of children upon assuming an orthograde posture and beginning to walk [Margalit et al 2018].
* In children in whom spontaneous remission does not arise after trunk strength increases and the child begins to walk, bracing is usually sufficient to prevent persistence of the thoracolumbar kyphosis [Xu et al 2018].
* If a severe kyphosis persists, spinal surgery may be necessary to prevent neurologic complications [Ain & Browne 2004].
Spinal stenosis. If severe signs and/or symptoms of spinal stenosis arise, urgent surgical referral is appropriate.
Extended and wide laminectomies [Pyeritz et al 1987, Lonstein 1988] are usually recommended. Urgency depends on level (e.g., thoracic vs lumbar) and degree of stenosis. Individuals had better outcomes and function the sooner they underwent surgery after developing symptoms [Carlisle et al 2011].
Immunization. Nothing about achondroplasia precludes all routine immunizations. Given increased respiratory risks, DTaP, pneumococcal, and influenza vaccines are especially important.
Adaptive needs. Due to short stature, environmental modifications are necessary. In school these may include step stools, lowered light switches, appropriate-height toilets or other means to make them accessible, lower desks, and foot support in front of chairs. All children need to be able to independently escape the building should an emergency arise. Small hands and ligamentous laxity can make fine motor activities difficult. Appropriate adaptations include the use of smaller keyboards, weighted pens, and smoother writing surfaces. Most children should have an IEP or 504 plan.
Pedal extenders for driving are almost always needed. Also needed may be workplace modification such as lower desks, smaller keyboards, step stools, and toileting access.
Socialization. Because of the highly visible nature of the short stature associated with achondroplasia, affected persons and their families may encounter difficulties in socialization and school adjustment.
Support groups (see Resources) such as the Little People of America, Inc (LPA) can assist families with these issues through peer support, personal example, and social awareness programs.
Information on employment, education, disability rights, adoption of children with short stature, medical issues, suitable clothing, adaptive devices, and parenting is available through a national newsletter, seminars, and workshops.
### Surveillance
Recommendations for surveillance are incorporated into the American Academy of Pediatrics guidelines [Hoover-Fong et al 2020].
Growth. Monitor height and weight at each physician contact using growth curves standardized for achondroplasia [Hoover-Fong et al 2007].
Development. Screening of developmental milestones throughout infancy and early childhood should be performed and compared with those specific for achondroplasia [Ireland et al 2012]. Special attention should be paid to motor and expressive language development. Speech evaluation as part of developmental assessment is recommended at every well-child and clinical genetics visit.
Head growth and risk for hydrocephalus. Perform complete baseline neuroimaging of the brain in infancy.
Head circumference should be measured at every physician contact until around age six years given that sutural closure is markedly delayed (as evidenced by anterior fontanelle closure as late as age 5-6 years). Occipitofrontal circumference should continue to be measured throughout childhood at well checks and genetics visits, plotting it on growth curves standardized for achondroplasia [Horton et al 1978].
Craniocervical junction. Every infant should undergo neuroimaging of the craniocervical junction as soon as possible after diagnosis.
Overnight polysomnography should also be completed as soon as possible after initial diagnosis in infancy, and interpreted with consideration of features important in assessing the craniocervical junction. Increased central apnea is indicative of cord compression at the craniocervical junction.
Neurologic examination including monitoring for signs of cervical myelopathy such as persistent hypotonia, hyperreflexia, clonus, and asymmetries should be incorporated into each physical examination in infancy and childhood.
Obstructive sleep apnea. Inquiry should be made regarding the following signs and symptoms of disordered breathing in sleep:
* Difficult morning waking
* Excessive daytime somnolence
* Respiratory pauses during sleep
* Loud snoring
* Glottal stops or gasping
* Loud sighs while sleeping
* Poor daytime concentration
* Irritability, fatigue, depression
* Bedwetting
If worrisome nighttime or daytime features arise, polysomnography should be repeated.
Ears and hearing. In addition to newborn screening, each infant should have audiometric evaluation by age approximately one year.
Evidence for middle ear problems or hearing loss should be sought throughout childhood. Audiologic evaluations should be completed yearly throughout childhood.
Kyphosis. The spine of the infant and child should be clinically assessed every six months. If severe kyphosis appears to be developing, radiologic assessment is needed (lateral in sitting or standing, depending on age, and lateral cross-table prone or cross-table supine over a bolster). When the child begins to walk and if the kyphosis is resolving, assessment can be less frequent.
Legs. Clinical assessment for development of bowing and/or internal tibial torsion should be part of each physical assessment. If progressive pain or substantial deformity arises, referral to orthopedics is appropriate.
Spinal stenosis. Because adults with achondroplasia are at increased risk for spinal stenosis, a clinical history and neurologic examination is warranted any time new signs or symptoms develop, or at least every three to five years.
Adaptation to difference. Inquiry regarding social adjustment should be part of each primary physician contact. Encourage independence.
Specialty assessment. Parallel care with a geneticist or other provider experienced in the care of individuals with bone dysplasias is often helpful. In general, infants and toddlers should be evaluated every six months, children yearly, and adolescents every one to two years.
### Agents/Circumstances to Avoid
Children with achondroplasia should remain rear-facing in car seats as long as possible. Large heads with relatively lax neck ligaments place children at more risk in a motor vehicle accident.
Avoid soft-back infant seats, which increase the likelihood of developing kyphosis. Front carriers without a firm back should also be avoided.
Particularly in childhood, care must be taken to limit risk for injury to the spinal cord at the craniocervical junction. This should include prohibition of activities including collision sports (e.g., American football, ice hockey, rugby), use of a trampoline, diving from diving boards, vaulting in gymnastics, and hanging upside down from knees or feet on playground equipment.
Protocols have been published regarding positioning that should be avoided in order to decrease the likelihood of development of a fixed, angular kyphosis [Pauli et al 1997]. These include prohibition of unsupported sitting in the first 12-14 months, emphasis on good back support, lots of prone-position activities, and limiting disadvantageous positioning (i.e., in a trunk-flexed position).
There is no increased risk for bone fragility or joint degeneration, and there are no related circumstances to avoid.
### Evaluation of Relatives at Risk
See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.
### Pregnancy Management
When the pregnant woman is of average stature and the fetus has achondroplasia, fetal macrocephaly may cause cephalopelvic disproportion, potentially requiring delivery by cesarean section.
Pregnant women with achondroplasia must always be delivered by cesarean section because of the small size of the pelvis.
Pregnancy in a woman with achondroplasia is considered higher risk because of the slightly increased risk of respiratory failure. An initial consultation with a pulmonologist is recommended in early pregnancy.
### Therapies Under Investigation
Administration of C-type natriuretic peptide analog is in clinical trials. Early results showed it was well tolerated and resulted in increased growth velocity compared to baseline in children with achondroplasia (trial website) [Savarirayan et al 2019]. A conjugated C-type natriuretic peptide is also now in clinical trials (trial website) [Breinholt et al 2019]. Other considerations include tyrosine kinase inhibition [Komla-Ebri et al 2016], meclizine [Matsushita et al 2017], and a soluble recombinant human FGFR3 decoy [Garcia et al 2013].
Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for information on clinical studies for a wide range of diseases and conditions.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Achondroplasia
|
c0001080
| 28,266 |
gene_reviews
|
https://www.ncbi.nlm.nih.gov/books/NBK1152/
| 2021-01-18T21:44:01 |
{"mesh": ["D000130"], "synonyms": []}
|
His bundle tachycardia is a very rare congenital genetic tachyarrhythmia characterized by incessant tachycardia and high morbidity and mortality.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
His bundle tachycardia
|
c0039235
| 28,267 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3283
| 2021-01-23T18:29:11 |
{"gard": ["2706"], "mesh": ["D013613"], "umls": ["C0039235"], "icd-10": ["I47.1"], "synonyms": ["JET", "Junctional ectopic tachycardia"]}
|
## Clinical Features
Nodular lymphocytic vasculitis was described by Reed et al. (1972) in 3 generations of a family. Lesions were of 2 types: (1) multiple small to medium-sized nodules on the arms, legs and buttocks, and (2) multiple larger, firm nodules, resembling rheumatoid nodules, over bony prominences. The lesions were present from birth or early life. Exposure to sunlight aggravated the lesions, whereas chloroquine suppressed them completely. Histology showed lymphocytic vasculitis without necrosis, extending deep into the fat. A relationship to lupus erythematosus was postulated. 'Rheumatoid arthritis' and discoid LE were present in the family. No male-to-male transmission was observed.
Inheritance \- Autosomal dominant Misc \- Sunlight aggravation \- Chloroquine suppression of lesions Lab \- Histology shows lymphocytic vasculitis without necrosis, extending deep into the fat Vascular \- Nodular inflammatory vasculitis ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
VASCULITIS, LYMPHOCYTIC, NODULAR
|
c1860519
| 28,268 |
omim
|
https://www.omim.org/entry/192310
| 2019-09-22T16:32:02 |
{"mesh": ["C566008"], "omim": ["192310"]}
|
A type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.
## Epidemiology
Prevalence is unknown.
## Clinical description
The clinical manifestations are often subtle, probably as a result of trans-placental passage of some maternal thyroid hormone or due to the fact that many infants have some thyroid production of their own. More specific symptoms and signs often do not develop until several months of age. Common clinical features and signs include decreased activity and increased sleep, feeding difficulty and constipation, prolonged jaundice, myxedematous facies, large fontanels (especially posterior), macroglossia, a distended abdomen with umbilical hernia, and hypotonia. Slow linear growth and developmental delay are usually apparent by 4-6 months of age.
## Etiology
Isolated TSH deficiency is transmitted in an autosomal recessive manner and is caused by mutations in the TSHB subunit gene (1p13).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Isolated thyroid-stimulating hormone deficiency
|
c1848794
| 28,269 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90674
| 2021-01-23T17:17:34 |
{"gard": ["10129"], "mesh": ["C564765"], "omim": ["275100"], "icd-10": ["E03.1"], "synonyms": ["Isolated TSH deficiency", "Isolated thyrotropin deficiency"]}
|
A number sign (#) is used with this entry because Apert syndrome is caused by heterozygous mutation in the FGFR2 gene (176943) on chromosome 10q26.
Crouzon syndrome (123500) and Pfeiffer syndrome (101600) are allelic disorders with overlapping features.
Description
Apert syndrome is a congenital disorder characterized primarily by craniosynostosis, midface hypoplasia, and syndactyly of the hands and feet with a tendency to fusion of bony structures. Most cases are sporadic, but autosomal dominant inheritance has been reported (Mantilla-Capacho et al., 2005).
Cohen (1973) provided a review of all the 'craniosynostosis syndromes.'
Clinical Features
Apert (1906) defined a syndrome comprising skull malformation characterized by acrocephaly of brachysphenocephalic type and syndactyly of the hands and feet with complete distal fusion with a tendency to fusion of bony structures. The hand, when all the fingers are webbed, has been compared to a spoon and, when the thumb is free, to an obstetric hand.
Blank (1960) assembled case material on 54 patients with Apert syndrome born in Great Britain. Two clinical categories were distinguished: (1) 'typical' acrocephalosyndactyly, to which Apert's name is appropriately applied; and (2) other forms lumped together as 'atypical' acrocephalosyndactyly. The feature distinguishing the 2 types is a middigital hand mass with a single nail common to digits 2-4, found in Apert syndrome and lacking in the others. Thirty-nine of the 54 were of Apert type. Six of 12 autopsies showed visceral anomalies, but in none were these identical. Schauerte and St-Aubin (1966) pointed out that progressive synostosis in Apert syndrome occurs in the feet, hands, carpus, tarsus, cervical vertebrae, and skull, and proposed 'progressive synosteosis with syndactyly' as a more appropriate designation.
In a report on Crouzon disease, Dodge et al. (1959) described 2 sporadic cases of Crouzon-type craniofacial changes with syndactyly of both hands and feet. Most conclude that this disorder is actually Apert syndrome with unusually marked facial features (Temtamy and McKusick, 1978).
Kreiborg et al. (1992) found fusion of cervical vertebrae in 68% of patients with Apert syndrome: single fusions in 37% and multiple fusions in 31%. C5-C6 fusion was most common. In contrast, cervical fusion occurs in 25% of patients with Crouzon disease and most commonly involves C2-C3 only. Kreiborg et al. (1992) concluded that when fusions are present, C5-C6 involvement in the Apert syndrome and C2-C3 involvement in Crouzon disease can be used to distinguish the 2 conditions. Radiographic study of the cervical spine is imperative before undertaking anesthesia for surgery in these patients.
Wilkie et al. (1995) scored the severity of the syndactyly in Apert syndrome according to a modified version of the classification of Upton (1991). In the Apert hand, the central 3 digits are always syndactylous; in the least severe instance, type 1, the thumb and part of the fifth finger are separate from the syndactylous mass; in type 2, the little finger is not separate; and in type 3, the thumb and all fingers are included. Similarly, syndactyly in the foot may involve mainly the 3 lateral digits (type 1) or digits 2-5 with a separate big toe (type 2), or be continuous (type 3).
Cohen and Kreiborg (1995) studied 44 pairs of hands and 37 pairs of feet in Apert syndrome, using clinical, dermatoglyphic, and radiographic methods. They also studied histologic sections of the hand from a 31-week stillborn fetus. They noted that in general the upper limb is more severely affected than the lower limb. Coalition of distal phalanges and synonychia found in the hands was never present in the feet.
Other Features
Varying degrees of mental deficiency have been associated with Apert syndrome; however, individuals with normal intelligence have also been reported. Individuals who have craniectomy early in life may have improved intelligence. Patton et al. (1988) did a long-term follow-up on 29 patients of whom 14 (48%) had a normal or borderline IQ, 9 had mild mental retardation (IQ, 50-70), 4 were moderately retarded (IQ, 35-49), and 2 (7%) were severely retarded (IQ less than 35). Early craniectomy did not appear to improve intellectual outcome. Six of 7 school drop-outs with normal or borderline intelligence were in full-time employment or vocational training. Contrary to early conclusions such as that of Park and Powers (1920), Cohen and Kreiborg (1990) concluded that many patients with Apert syndrome are mentally retarded. They had information on 30 patients with malformations of the corpus callosum, the limbic structures, or both, and suggested that these malformations may be responsible for mental retardation. Progressive hydrocephalus seemed to be uncommon and was frequently confused with nonprogressive ventriculomegaly.
Cinalli et al. (1995) found that only 4 of their series of 65 patients with Apert syndrome required shunting for progressive hydrocephalus. Only 1.9% of their patients had chronic herniation of the cerebellar tonsils, the finding present in 72.7% of patients with Crouzon syndrome.
In reviewing their series of 70 children with Apert syndrome, Reiner et al. (1996) found an IQ greater than 70 in 50% of the children who had a skull decompression before 1 year of age versus only 7.1% in those operated on later in life. Malformations of the corpus callosum and ventricular size did not correlate with the final IQ, whereas anomalies of the septum pellucidum did. The third significant factor in intellectual achievement was the setting in which the children were raised. IQ was normal in 39.3% of patients living with their family, but in only 12.5% of those institutionalized.
Pelz et al. (1994) reported an 18-month-old girl who had distal esophageal stenosis in addition to typical manifestations of Apert syndrome.
Cohen and Kreiborg (1995) commented on the cutaneous manifestations in a series of 136 cases of Apert syndrome (Cohen and Kreiborg, 1993). Hyperhidrosis was found in all patients. The skin became oily at adolescence and thereafter, with acniform lesions on the face, chest, back, and upper arms. The authors commented on and illustrated the phenomenon of 'interrupted eyebrows,' which may be due to the underlying bony defect. The orbital plate of the frontal bone is very short, resulting in early fusion of the sphenoparietal suture. This leads to marked retrusion and elevation of the supraorbital wings, most pronounced laterally. Interruption of the eyebrows corresponds to this defect. Several patients had excessive skin wrinkling of the forehead.
Maroteaux and Fonfria (1987) reported a patient with seemingly typical Apert syndrome except for the presence of postaxial polydactyly of the hands and preaxial polydactyly of the feet. The authors could not discern whether the findings represented a low frequency feature of Apert syndrome or a distinct syndrome. Sidhu and Deshmukh (1988) reported a somewhat similar case in the child of a first-cousin couple. However, Gorlin (1989) doubted the existence of a separate recessive entity and stated that polysyndactyly in the feet, especially replication of metatarsals, is not rare in Apert syndrome.
Lefort et al. (1992) reported a patient with Apert syndrome and partial preaxial polydactyly characterized by duplication of the first metatarsal and presence of 6 phalanges.
Cohen and Kreiborg (1995) observed postaxial polydactyly of the hands in 3 (7%) of 44 patients with Apert syndrome, noting that while it is uncommon, it is not a rare finding. The authors suggested that 'acrocephalosyndactyly' versus 'acrocephalopolysyndactyly' represents a pseudodistinction and that use of these terms should be discontinued.
Mantilla-Capacho et al. (2005) reported a female child with typical features of Apert syndrome and preaxial polydactyly of the hands and feet with distal bony fusion. She did not have cleft palate. Genetic analysis revealed the common FGFR2 mutation (S252W; 176943.0010). The authors noted that only 8 patients with Apert syndrome and polydactyly had been reported, and that their case was the first confirmed by genetic analysis. Mantilla-Capacho et al. (2005) concluded that polydactyly, although rare, should be considered part of the spectrum of abnormalities found in Apert syndrome, and suggested that Apert syndrome be considered part of the group of acrocephalopolysyndactylies.
In a review of cranial imaging in 30 patients with Apert syndrome, Quintero-Rivera et al. (2006) reported ventriculomegaly (76% of patients), hydrocephalus (13%), complete absence of the septum pellucidum (17%), partially absent septum pellucidum (23%), and defects of the corpus callosum (23%). In addition, 21 patients had abnormal semicircular canals, 28 had jugular foraminal stenosis, 5 patients had Chiari I malformation, 5 had low-lying cerebellar tonsils, and 2 had posterior fossa arachnoid cysts.
In a review of 63 patients with Apert syndrome prior to craniofacial surgery, Khong et al. (2006) found that, at a mean age of 4 years, at least 14% had amblyopia, 60% had strabismus, 19% had anisometropia, and 34% of eyes had ametropia. Exposure keratopathy and corneal scarring occurred in at least 8% of patients and optic atrophy in at least 8%.
Andreou et al. (2006) reported a 4-year-old girl with Apert syndrome associated with a heterozygous mutation (P253R; 176943.0011) in the FGFR2 gene. She also developed a low-grade papillary urothelial carcinoma of the bladder. No FGFR3 (134934) mutations were identified in the bladder tumor.
Inheritance
Although most cases of Apert syndrome are sporadic, it also follows autosomal dominant inheritance. Roberts and Hall (1971) observed affected mother and daughter. Van den Bosch (quoted by Blank, 1960) observed the typical deformity in mother and son, and Weech (1927) reported mother and daughter. The evidence strongly suggests autosomal dominant inheritance. Paternal age effect is demonstrable.
Allanson (1986) described 2 sisters with Apert syndrome, born to normal, unrelated parents. Germinal mosaicism was proposed.
Rollnick (1988) described what is purportedly the first example of male transmission of Apert syndrome in affected father and daughter.
Diagnosis
### Prenatal Diagnosis
Leonard et al. (1982) made the prenatal diagnosis of Apert syndrome by fetoscopy.
Chang et al. (1998) excluded the diagnosis of Apert syndrome in the fetus of an affected woman with a mutation in the FGFR2 gene (P253R; 176943.0011).
Pathogenesis
Lomri et al. (1998) analyzed proliferation and differentiation of calvaria cells derived from Apert syndrome infants and fetuses with FGFR2 mutations. Histologic analysis revealed premature ossification, increased extent of subperiosteal bone formation, and alkaline phosphatase-positive preosteoblastic cells in Apert fetal calvaria compared with age-matched controls. Preosteoblastic calvaria cells isolated from Apert syndrome infants and fetuses showed normal cell growth in basal conditions or in response to exogenous FGF2. In contrast, the number of alkaline phosphatase-positive calvaria cells was 4-fold higher than normal in mutant fetal calvaria cells with the most frequent Apert mutation, S252W (176943.0010), suggesting increased maturation rate of cells in the osteoblastic lineage. These and other results showed that Apert FGFR2 mutations lead to an increase in the number of precursor cells that enter the osteogenic pathway, leading ultimately to increased subperiosteal bone matrix formation and premature calvaria ossification during fetal development; thus, a connection was established between the altered genotype and the cellular phenotype in craniosynostosis of Apert syndrome.
Miraoui et al. (2010) used microarray analysis to investigate the signaling pathways that are activated by FGFR2 mutation in Apert craniosynostosis. Transcriptomic analysis revealed that EGFR (131550) and PDGFR-alpha (173490) expression was abnormally increased in human Apert calvaria osteoblasts compared with wildtype cells. Pharmacologic inhibition of EGFR and PDGFR reduced the pathologic upregulation of phenotypic osteoblast genes and in vitro matrix mineralization in Apert osteoblasts. Activated FGFR2 enhanced EGFR and PDGFR-alpha mRNA expression via activation of PKC-alpha (176960)-dependent AP1 (see JUN, 165160) transcriptional activity. The increased EGFR protein expression in Apert osteoblasts resulted in part from a posttranscriptional mechanism involving increased Sprouty2 (602466)-Cbl (165360) interaction, leading to Cbl sequestration and reduced EGFR ubiquitination.
Molecular Genetics
In all 40 unrelated patients with Apert syndrome, Wilkie et al. (1995) identified heterozygosity for 1 of 2 mutations in exon 7 of the FGFR2 gene: S252W (176943.0010) or P253R (176943.0011). The findings confirmed that Apert syndrome is allelic to Crouzon syndrome.
In a patient with Apert syndrome, Oldridge et al. (1997) identified a noncanonical mutation in exon 7 of the FGFR2 gene (S252F; 176943.0017).
In a series of 260 cases of Apert syndrome, Oldridge et al. (1999) found that 172 carried the S252W mutation and 85 had the P253R mutation, indicating that the molecular mechanism of Apert syndrome is exquisitely specific. Two patients had an Alu-element insertion in or near exon 9 (176943.0025).
Lajeunie et al. (1999) identified the S252W and P253R mutations in 23 (64%) and 12 (33%) of 36 Apert syndrome patients, respectively. One affected fetus had the S252F mutation.
Moloney et al. (1996) found that 74 of 118 patients with Apert syndrome had the FGFR2 S252W mutation and 44 had the P253R mutation. Using sequence analysis of the neighboring introns flanking the mutation-prone exon and a novel PCR-based assay, ARMS (amplification refractory mutation system), to determine the phase of the mutant allele and nearby polymorphisms in 57 informative families, Moloney et al. (1996) determined that the mutant allele was paternal in origin in all cases. The authors noted that a paternal bias for point mutations is evident in a number of disorders, but that the extreme skewing in favor of paternal mutations observed in Apert syndrome is unusual. A paternal age effect was noted. The data suggested a stronger paternal age effect for the S252W mutation, which involves a CpG dinucleotide, than for the P253R mutation, which does not.
Glaser et al. (2003) used allele-specific peptide nucleic acid PCR assays to determine FGFR2 mutation frequency in the sperm of 148 men aged 21 to 80 years. The number of sperm with FGFR2 mutations increased in the oldest age groups among men who did not have a child with Apert syndrome. These older men were also more likely to have both mutations in their sperm. However, this age-related increase in mutation frequency was not sufficient to explain the Apert syndrome birth frequency. In contrast, the mutation frequency observed in men who were younger and had children with Apert syndrome was significantly greater, suggesting selection for sperm with specific mutations. Glaser et al. (2003) concluded that contributing factors to the paternal age effect may include selection and a higher number of mutant sperm in a subset of men ascertained because they had a child with Apert syndrome. No age-related increase in the frequency of these mutations was observed in leukocytes. Selection and/or quality control mechanisms, including DNA repair and apoptosis, may contribute to the cell type differences in mutation frequency.
Genotype/Phenotype Correlations
Park et al. (1995) reported 36 patients with Apert syndrome, 35 of whom were found to carry either the S252W or P253R mutation in the FGFR2 gene, with a frequency of 71% and 26% for these 2 mutations, respectively. A study of 29 different clinical features demonstrated no statistically significant differences between the 2 subgroups defined by the 2 major mutations.
Slaney et al. (1996) found differential effects of the 2 FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Among 70 unrelated patients with Apert syndrome, 45 had the S252W mutation and 25 had the P253R mutation. The syndactyly in both the hands and the feet was more severe in patients with the P253R mutation. In contrast, cleft palate was significantly more common in patients with the S252W mutation. No convincing differences were found in the prevalence of other malformations associated with Apert syndrome.
Lajeunie et al. (1999) found considerable clinical variability among 36 patients with Apert syndrome confirmed by genetic analysis. Two patients had no clinical or radiologic evidence of craniosynostosis. In 2 other patients with atypical forms of syndactyly and cranial abnormalities, the detection of a specific mutation was helpful in making the diagnosis.
Among 21 Apert syndrome patients who underwent craniofacial surgery, von Gernet et al. (2000) found that the postsurgical craniofacial appearance was better in patients with the P253R mutation, whereas these patients showed a more pronounced severity of the syndactyly. Six patients had the P253R mutation and 15 had the S252W mutation.
Cytogenetics
Dodson et al. (1970) described deletion-translocation of the short arm of a chromosome 2 to the long arm of a chromosome 11 or 12 in a patient with Apert syndrome. They found reports of chromosomal abnormalities in 3 other cases of Apert syndrome.
Population Genetics
Blank (1960) estimated the frequency of Apert syndrome to be 1 in 160,000 births.
Cohen et al. (1992) studied the birth prevalence of Apert syndrome in Denmark, Italy, Spain, and 4 areas of the United States. A total of 57 cases gave a birth prevalence calculated to be approximately 15.5 per million births, which is twice the rate determined in earlier studies. The mutation rate was calculated to be 7.8 x 10(-6) per gene per generation. Apert syndrome accounted for about 4.5% of all cases of craniosynostosis. Czeizel et al. (1993) reported a validated birth prevalence of Apert syndrome in Hungary to be 9.9 per million live births. The mutation rate was calculated to be 4.6 x 10(-5) per gene per generation. Data on 14 other 'sentinel' anomalies observed between 1980 and 1989 were given.
Tolarova et al. (1997) reported that the California Birth Defects Monitoring Program, from 1983 through 1993, identified 33 infants with Apert syndrome. The sample was enlarged with an additional 22 cases from the Center for Craniofacial Anomalies at the University of California, San Francisco. Birth prevalence calculated from the 31 cases was 12.4 per million live births. The calculated mutation rate was 6.2 x 10(-6) per gene per generation. Asians had the highest prevalence (22.3 per million live births) and Hispanics the lowest (7.6 per million). In a population-based subsample of 31 affected infants, there was an almost equal number of affected males and females, but in the San Francisco sample there were more affected females (sex ratio 0.79). For all cases, the mean age of mothers was 28.9 years, and of fathers 34.1 years. Almost half of the fathers were older than 35 years when the child was born; for more than 20% of cases, both parents were older than 35 years.
Animal Model
Hill et al. (2013) used 2- and 3-dimensional imaging to evaluate postnatal brain and skull development between days P0 and P2 in mice carrying the P253R FGFR2 mutation (176943.0011). Postnatal day 2 roughly corresponds to 10 months of age in human infants. At P0, the mutant brain was 1% larger and the mutant skull was 2% smaller compared to unaffected littermates. At P2, heterozygous mutant mice had 9% smaller skulls than controls, although the size reduction was not uniformly distributed. The facial skeleton, including the palate, was reduced by 11%, whereas the neurocranium was reduced by 3%, and the skull showed increased height in the posterior neurocranium compared to controls. The brain size in mutant mice at P2 was not different from control mice overall, but there was shortening of the corpus callosum as well as increased mediolateral and decreased rostrocaudal growth of the cerebrum. The findings were similar to those observed in human infants with Apert syndrome. The results suggested that size and form of the brain and skull show different patterns of growth in mutant and control mice during the postnatal period. However, the change in the skull-brain relationship from P0 to P2 implies that each tissue affected by the mutation retains a degree of independence, rather than one tissue directing the development of the other.
Nomenclature
Vogt (1933) described cases presenting the hand and foot malformations characteristic of Apert disease together with the facial characteristics of Crouzon disease, caused by a very hypoplastic maxilla. The syndactyly was less severe than in Apert disease and the thumbs and little fingers were usually free. Nager and de Reynier (1948) gave this deformity the name of Vogt cephalodactyly, while other authors called it Apert-Crouzon disease, indicating the similarity to both abnormalities. Temtamy and McKusick (1969) called it ACS II in an earlier classification. There were no reported instances of hereditary transmission of this specific phenotype, but this could be due simply to low reproductive fitness.
History
Wheaton (1894) may have provided the first description of Apert syndrome (Mantilla-Capacho et al., 2005).
INHERITANCE \- Autosomal dominant GROWTH Height \- Deceleration of linear growth during childhood Weight \- Normal birth weight \- Normal birth length HEAD & NECK Head \- Acrobrachycephaly \- Turribrachycephaly \- Large fontanel \- Late-closing fontanel \- Megalencephaly Face \- High, broad forehead \- Flat face \- Midface hypoplasia \- Mandibular prognathism Ears \- Hearing loss \- Chronic otitis media \- Abnormal semicircular canals Eyes \- Shallow orbits \- Hypertelorism \- Downslanting palpebral fissures \- Proptosis Nose \- Depressed nasal bridge \- Choanal stenosis or atresia \- Strabismus Mouth \- Narrow palate \- Cleft palate \- Bifid uvula Teeth \- Malocclusion \- Delayed dental eruption CARDIOVASCULAR Heart \- Ventricular septal defect Vascular \- Overriding aorta RESPIRATORY Airways \- Anomalous tracheal cartilage ABDOMEN Gastrointestinal \- Pyloric stenosis \- Esophageal atresia \- Ectopic anus GENITOURINARY Internal Genitalia (Male) \- Cryptorchidism Internal Genitalia (Female) \- Vaginal atresia Kidneys \- Hydronephrosis SKELETAL Skull \- Craniosynostosis (coronal) \- Jugular foraminal stenosis Spine \- Cervical vertebrae fusion, usually at C5 to C6 Limbs \- Synostosis of radius and humerus \- Fusion of carpal bones, especially capitate and hamate Hands \- Symmetric osseous and/or cutaneous syndactyly of hands \- Broad distal phalanx of thumb \- Polydactyly, preaxial (rare) \- Polydactyly, postaxial (rare) Feet \- Symmetric osseous and/or cutaneous syndactyly of feet \- Broad distal hallux \- Polydactyly, preaxial (rare) \- Polydactyly, postaxial (rare) SKIN, NAILS, & HAIR Skin \- Moderate to severe acne Nails \- Single nail common to digits 2 to 4 NEUROLOGIC Central Nervous System \- Variable mental retardation \- Agenesis of the corpus callosum \- Ventriculomegaly \- Absent septum pellucidum \- Limbic malformations \- Chiari I malformation \- Low-lying cerebellar tonsils \- Posterior fossa arachnoid cyst \- Hydrocephalus MISCELLANEOUS \- Paternal age effect \- De novo mutation in some cases MOLECULAR BASIS \- Caused by mutation in the fibroblast growth factor receptor-2 gene (FGFR2, 176943.0010 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
APERT SYNDROME
|
c1510455
| 28,270 |
omim
|
https://www.omim.org/entry/101200
| 2019-09-22T16:45:30 |
{"doid": ["12960"], "mesh": ["D000168"], "omim": ["101200"], "icd-10": ["Q87.0"], "orphanet": ["87"], "synonyms": ["Alternative titles", "ACROCEPHALOSYNDACTYLY, TYPE I", "ACS I"], "genereviews": ["NBK541728", "NBK1455"]}
|
Middle aortic coarctation is a rare vascular anomaly characterized by the segmental narrowing of the abdominal and/or distal descending thoracic aorta, with varying involvement of the visceral and renal arteries, that commonly presents in children and young adults with early onset and refractory hypertension, abdominal angina, and lower-limb claudication, that can lead to life-threatening complications associated with severe hypertension (i.e. myocardial infarction, heart failure, aortic rupture, renal insufficiency and intracranial hemorrhage). It may be due to various congenital or acquired causes, but it is most often secondary to an acquired inflammatory disease (i.e. Takayasu arteritis or giant cell arteritis).
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Atypical coarctation of aorta
|
c3805239
| 28,271 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1456
| 2021-01-23T17:23:42 |
{"umls": ["C3805239"], "icd-10": ["Q25.1"], "synonyms": ["Coarctation of the abdominal aorta", "Mid-aortic dysplastic syndrome", "Mid-aortic syndrome", "Midaortic syndrome", "Middle aortic syndrome"]}
|
## Description
Aneurysms and dissections of the aorta usually result from degenerative changes in the aortic wall. Thoracic aortic aneurysms and dissections are primarily associated with a characteristic histologic appearance known as 'medial necrosis' or 'Erdheim cystic medial necrosis' in which there is degeneration and fragmentation of elastic fibers, loss of smooth muscle cells, and an accumulation of basophilic ground substance. In contrast, degeneration leading to abdominal aortic aneurysm (100070) is usually caused by a combination of factors including age, atherosclerosis, hypertension, and infectious, inflammatory, or autoimmune processes.
Medial necrosis and thoracic aortic aneurysm/dissection are known to occur in certain connective tissue diseases such as Marfan syndrome (154700), and vascular (type IV) Ehlers-Danlos syndrome (130050). More commonly, however, medial necrosis occurs in the absence of a clearly identifiable syndrome.
### Genetic Heterogeneity of Thoracic Aortic Aneurysm
Loci for isolated thoracic aortic aneurysm have been identified on chromosomes 11q (AAT1) and 5q (AAT2; 607087). Mutation in the MYH11 gene (160745) on chromosome 16p causes AAT4 (132900). Mutation in the ACTA2 gene (102620) on chromosome 10q causes AAT6 (611788). Mutation in the MYLK gene (600922) on chromosome 3q21 causes AAT7 (613780). Mutation in the PRKG1 gene (176894) on chromosome 10q11 causes AAT8 (615436). Mutation in the MFAP5 gene (601103) on chromosome 12p13 causes AAT9 (616166). Mutation in the LOX gene (153455) on chromosome 5q23 causes AAT10 (617168). Mutation in the FOXE3 gene (601094) on chromosome 1p33 causes susceptibility to AAT11 (617349).
Thoracic aortic aneurysm with dissection (e.g., AAT3 and AAT5) can occur as a manifestation of the Loeys-Dietz syndrome (see LDS2, 610168 and LDS1, 609192, caused by mutation in the TGFBR2 (190182) and TGFBR1 (190181) genes, respectively).
### Reviews
Pyeritz (2014) reviewed heritable thoracic aortic disorders with particular attention to causative genes, including components of the extracellular matrix, vascular smooth muscle cytoskeleton, and TGF-beta and other signaling pathways.
Clinical Features
McKusick (1972) noted the association between congenital bicuspid aortic valve and medial necrosis of the aorta in a father and son. Gale et al. (1977) observed 2 brothers with calcific stenosis of a congenital bicuspid aortic valve. One brother had a large aneurysm of the ascending aorta. The second had moderate dilatation. The association of aortic stenosis and cystic medial necrosis was documented by McKusick et al. (1957). Lindsay (1988) reviewed the evidence for an interrelationship between coarctation of the aorta, bicuspid aortic valve, and abnormal ascending aortic wall. The correlation between the first 2 had been pointed out by Abbott (1928). By echocardiographic study, Pachulski et al. (1991) demonstrated increased mean aortic root diameter in patients with functionally normal or minimally stenotic bicuspid aortic valves.
Bixler and Antley (1976) reported a possibly distinct entity combining Erdheim cystic medial necrosis (leading to dissection) and ectopia of the pigment layer of the iris onto the anterior surface of the iris. In 1 patient this created an appearance suggesting coloboma. This anomaly was referred to as iris flocculi by Lewis and Merin (1995), who likewise found association with familial aortic dissection; see AAT6, 611788.
Erdheim cystic medial necrosis with dissecting aneurysm was reported in brothers (Graham and Milne, 1952; von Meyenburg, 1939), in father and son (Fleming and Helwig, 1941), and in mother and daughter (Griffiths et al., 1951), but clinical information in these reports was too scanty to permit exclusion of the Marfan syndrome (154700). Hanley and Jones (1967) reported dissecting aortic aneurysm in 2 sisters and the son of one of them. No stigmata of Marfan syndrome were present. Humphries et al. (1972) reported dissecting aortic aneurysm in mother and daughter. Lichtenstein (1972) reported Erdheim cystic medial necrosis in father and son. Opitz (1973) studied a family with isolated medial necrosis in a young woman, her father, and her father's father, and later (Opitz, 1982) referred to 2 other well-documented families.
McManus et al. (1986) described a family in which 6 members spanning 3 generations died of acute dissection of the aorta; 5 were men who died at a mean age of 28 years (range 22 to 34), while the sixth was the proband's paternal grandmother, who died at 62 years of age. All were hypertensive. Dilatation of the aortic root or aneurysms in the aorta were absent.
Toyama et al. (1989) observed acute aortic dissection in 3 of 4 sibs without signs of Marfan syndrome. The mother died at age 55 of acute dissection, as did several of her sibs.
Pyeritz (1990) pointed out that in the familial aortic dissection cases the aortic root often does not have the bulbous appearance characteristic of the Marfan syndrome. Furthermore, aortic dissection may occur with degrees of dilatation in the first part of the ascending aorta that would not ordinarily be considered dangerous in the Marfan syndrome.
Vaughan et al. (2001) reported 3 families in which thoracic aortic aneurysms associated, in some individuals, with aneurysms elsewhere in the arterial tree and segregated as an autosomal dominant trait. Marfan syndrome (154700) and Ehlers-Danlos syndrome (130050) had been excluded on phenotypic grounds. In family ANA the proband had presented at the age of 36 with a 5.7-cm ascending thoracic aortic aneurysm and a type I aortic dissection. Aortic pathology revealed cystic medial necrosis. Echocardiographic screening detected 13 additional affected family members from 20 at risk, with ages ranging from 2.5 to 65. Sinuses of Valsalva were dilated in all but 1 affected person. One individual had an abdominal aortic aneurysm and another had an aneurysm of the left subclavian artery. In family ANB the proband had repair of a type I aortic dissection at the age of 34 and subsequently underwent repair of abdominal and aortic arch aneurysms. Seven of 14 at-risk family members had dilated aortas. In the third family (ANF), the proband again presented in his early thirties with a thoracic aortic aneurysm. Seven of 11 at-risk family members had aortic dilatation at the level of the sinuses of Valsalva. One affected individual had bilateral fifth digit contractures, retinal detachment, and cataracts, and a further individual had similar finger contractures and mild pectus excavatum.
Loscalzo et al. (2007) performed a prospective study of 13 families with biscuspid aortic valve (BAV; 607086) and thoracic aortic aneurysm. All 13 families had multiple affected members, often in more than 1 generation, consistent with an autosomal dominant pattern of inheritance. Thirty-five percent (39/110) of family members had BAV/AAT or TAA alone. Two families had nonmanifesting obligate carriers, and 3 families had additional left outflow tract anomalies including coarctation of the aorta in 2 families and hypoplastic left heart syndrome in 1 family, suggesting reduced penetrance and variable expressivity. Loscalzo et al. (2007) suggested that BAV and AAT are independent manifestations of a single gene defect. They sequenced the TGFBR1 (190181) and TGFBR2 (190182) genes in 1 proband in each family, but found no mutations in either gene.
Mapping
Among the families reported by Vaughan et al. (2001) with autosomal dominant thoracic aortic aneurysms, linkage to FBN1 (134797), FBN2 (612570), COL3A1 (120180), and the locus on 5q13-q14 (AAT2; 607087) was initially excluded in family ANA. An initial genomewide linkage analysis using highly polymorphic STRs revealed linkage by 2-point lod score to chromosome 11q microsatellites, with a maximum lod score of 3.35 at theta = 0.06 at marker D11S1356. Further multipoint analyses revealed a maximum lod score of 4.4 at a locus 1.1 cM telomeric to D11S1356, and haplotype analyses refined the disease interval to a 2.3-cM locus at chromosome 11q23.3-q24 between D11S1341 and AFMB031WC9. Candidate genes mapping to this interval were screened for mutations, but none was identified. The authors assigned the symbol FAA1 to this locus. Family ANB was linked to FBN1, and linkage to both FBN1 and FAA1 was excluded in family ANF.
Molecular Genetics
### Associations Pending Confirmation
For discussion of a possible association between variation in the MAT2A gene and thoracic aortic aneurysm, see 601468.0001.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
AORTIC ANEURYSM, FAMILIAL THORACIC 1
|
c0392775
| 28,272 |
omim
|
https://www.omim.org/entry/607086
| 2019-09-22T16:09:46 |
{"doid": ["14004"], "mesh": ["C536230"], "omim": ["607086"], "orphanet": ["91387", "229"], "synonyms": ["AORTIC ANEURYSM, FAMILIAL THORACIC", "Alternative titles", "FAA1", "AORTIC DISSECTION, FAMILIAL", "Familial TAAD", "ANNULOAORTIC ECTASIA", "ANEURYSM, THORACIC AORTIC"], "genereviews": ["NBK1120"]}
|
A rare developmental defect during embryogenesis which can be a non-syndromic (70%) or syndromic (30%) diaphragmatic malformation characterized by a posterolateral defect of the diaphragm that allows passage of abdominal viscera into the thorax, leading to respiratory insufficiency and persistent pulmonary hypertension.
## Epidemiology
Congenital diaphragmatic hernia (CDH) is a rare condition occuring in 1-5/10,000 births.
## Clinical description
Newborns display respiratory distress with hypoxia, excavated abdomen with sternal protrusion and in severe cases low APGAR scores at 1 and 5 minutes. Auscultation may reveal a contralateral cardiac displacement and respiratory bruits are absent or decreased on the affected side. Insufficient gas exchange and persistent pulmonary hypertension are associated with hypoplastic lungs. Pulmonary hypertension may become manifest after a brief period of adaptation to post-natal circulation. The defect and hence herniation of the intestine and/or the liver into the thorax occurs more often on the left side. Malrotation or malfixation of the intestine are frequent. One third of cases present with cardiovascular malformations and lesser proportions with skeletal, neural, genitourinary, gastrointestinal or other defects. CDH may be isolated (non-syndromic) or a component of Fryns, Denys-Drash and Donnai-Barrow syndromes as well as certain chromosomal anomalies.
## Etiology
The causes of CDH are largely unknown; abnormal embryogenesis due to retinoid signaling dysfunction is likely involved as are mutations of ZFPM2 and GATA6 in some cases. Persistent pulmonary hypertension is due to arteriolar constriction and closure of the pulmonary arterial bed.
## Diagnostic methods
Thoracic and abdominal X-rays locate herniated viscera. Blood gases and pH status, and other derived indexes, reflect the efficiency of gas exchange. Echocardiography of the heart is necessary to exclude associated malformations, to measure the right-to-left shunt and to estimate the severity of pulmonary hypertension.
## Differential diagnosis
CDH should be differentiated from cystic malformation of the lung.
## Antenatal diagnosis
Prenatal ultrasonography reveals herniation, polyhydramnios may appear. Genetic testing for associated chromosomal aberrations and syndromes may indicate syndromic CDH if other manifestations are present. Small lungs size related to the size of the head indicates lung hypoplasia and can be prognostic.
## Genetic counseling
Most cases are sporadic and appear to be multifactorial, two thirds are male. Recurrence in siblings is 2%. Genetic counseling should be offered.
## Management and treatment
Termination of pregancy may be offered when chromosomal aberrations and syndromes are present. Fetoscopic endoluminal tracheal occlusion (FETO) with a balloon, particularly for fetuses considered otherwise unviable, has yielded survival rates approaching 50%. Gestation should be prolonged until near term if possible, maternal corticosteroids have also been proposed. In newborns, pre- and post-ductal percutaneous oxygen saturation measurements may assess the pulmonary function. Spontaneous ventilation or high frequency, low pressure ventilation (<20-25 cm H2O), no relaxation, alkalinization and adoption of modest gasometric goals (pre-ductal saturation of 80-95%, PaO2 60 mm Hg, hypercapnia <60 mm Hg) are now the standard. Extra-corporeal membrane oxygenation (ECMO) has also been used. Inotropic drugs (eg: dobutamine, dopamine) may be used to treat cardiac anomalies. Surgical repair of the hernia, undertaken only after cardio-respiratory functions are stable, replaces viscera into the abdomen and closes the diaphragmatic defect; a prosthetic patch may be necessary to repair the defect. Some surgeons perform this operation by video-assisted thoracoscopy.
## Prognosis
Considering prenatal and preoperative fatalities, mortality is 50-60%. Post-operative survival rate is 70-80%, up to 90% in certain institutions, particularly in non-syndromic CDH. Right-sided hernias seem to have a worse prognosis and may require more ECMO support. After surgical repair, pleural effusions and chronic respiratory tract disease are frequent, along with gastroesophageal reflux. Neurodevelopmental deficits are a risk following bouts of cerebral hypoxia. Neurosensorial deafness has been reported in a small proportion of patients.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Congenital diaphragmatic hernia
|
c0235833
| 28,273 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2140
| 2021-01-23T18:27:23 |
{"gard": ["1481"], "mesh": ["C538080", "D065630"], "omim": ["142340", "222400", "306950", "610187"], "umls": ["C0235833"], "icd-10": ["Q79.0"], "synonyms": ["CDH"]}
|
A number sign (#) is used with this entry because susceptibility to Mycobacterium tuberculosis (TB) is associated with variation in many genes. Case-control studies in areas of endemic TB have pointed to variation in the HLA (see 142800), NRAMP1 (600266), vitamin D receptor (VDR; 601769), mannose-binding protein (MBL2; 154545), and cytokine-inducible SH2-containing protein (CISH; 602441) genes as contributing to TB susceptibility (Mitsos et al., 2003, Khor et al., 2010). Variation in the CD209 (604672) and MCP1 (CCL2; 158105) genes is also associated with TB susceptibility. TB susceptibility loci have been mapped to chromosome 2q35 (MTBS1; 607949), near NRAMP1, and to chromosomes 8q12-q13 (MTBS2; 611046) and 20q13.31-q33 (MTBS3; 612929). X-linked susceptibility to TB has also been suggested (MTBSX; 300259). Protection against TB has been associated with SNPs in the TIRAP (606252), IFNG (147570), and IFNGR1 (107470) genes.
Description
Mycobacterium tuberculosis latently infects approximately one-third of humanity and is comparable only to human immunodeficiency virus (HIV; see 609423) as a leading infectious cause of mortality worldwide. Obstacles for controlling TB infection include lengthy treatment regimens of 6 to 9 months, drug resistance, lack of a highly efficacious vaccine, and incomplete understanding of the factors that control infectivity and disease progression. Although only 10% of individuals infected with M. tuberculosis develop active disease, the immune responses associated with TB susceptibility or resistance are not known. In addition, it is not known why some individuals have disseminated TB that spreads to the meninges and central nervous system, while most people have localized disease in the lungs. A number of studies suggest that host genetic factors influence susceptibility and resistance to TB (review by Berrington and Hawn, 2007).
Pathogenesis
Price et al. (2001) detected a significantly higher concentration of MMP9 (120361) per leukocyte in cerebrospinal fluid from adult tuberculous meningitis patients than in patients with bacterial or viral meningitis. In vitro studies indicated that viable bacilli were not required to stimulate MMP9 production. In contrast to the changes in MMP9 expression, MMP2 (120360) and tissue inhibitor of metalloproteinase-1 (TIMP1; 305370) were constitutively expressed, and the latter did not oppose the MMP9 activity. Elevated MMP9 activity was related to unconsciousness, confusion, focal neurologic damage, and death in the tuberculous meningitis patients.
Geijtenbeek et al. (2003) found that DCSIGN (CD209; 604672) captured and internalized intact Mycobacterium bovis BCG or avirulent M. tuberculosis through the glycolipid mycobacterial cell wall component ManLAM. Both bacilli and ManLAM were targeted to lysosomes and colocalized with LAMP1 (153330) in immature DCs. Antibodies against DCSIGN blocked BCG infection of DCs. Binding of secreted ManLAM to DCSIGN prevented mycobacteria- or LPS-induced DC maturation and induced IL10 (124092) production, suggesting that DCSIGN-ManLAM interaction may interfere with TLR-mediated signaling and development of an antiinflammatory response. Geijtenbeek et al. (2003) proposed that M. tuberculosis may target DCSIGN both to infect DCs and to downregulate DC-mediated immune responses.
Tailleux et al. (2003) showed that M. tuberculosis entered DCs after binding to DCSIGN, whereas the major macrophage receptors for M. tuberculosis, CR3 (see ITGAM; 120980) and MRC1 (153618), played only a minor role in DC infection. Flow cytometric and histopathologic analyses showed expression of DCSIGN on lung DCs from uninfected patients and on lymph node granuloma cells infected with M. tuberculosis.
Using flow cytometric analysis of bronchoalveolar lavage cells from tuberculosis (TB), asthma, and sarcoidosis patients and control individuals, Tailleux et al. (2005) found that most alveolar macrophages from TB patients expressed DCSIGN, whereas the lectin was barely detected in cells from the other subjects. FACS, RT-PCR, and ELISA analyses indicated that M. tuberculosis infection induced DCSIGN expression by a mechanism independent of TLR4 (603030), IL4 (147780), and IL13 (147683). Immunohistochemical analysis showed bacillary concentration in lung regions enriched in DCSIGN-expressing alveolar macrophages. Binding experiments revealed that DCSIGN-expressing alveolar macrophages were preferential targets for M. tuberculosis compared with DCSIGN-negative cells. Tailleux et al. (2005) did not detect IL10 in bronchoalveolar lavage or induction of IL10 in infected cells.
Mycobacterium tuberculosis (Mtb) can persist in unidentified niches in the host long before the onset of disease symptoms and even after effective treatment. Latent tuberculosis is a major risk factor for active disease. Das et al. (2013) hypothesized that bone marrow stem cells (BMSCs), comprising both hematopoietic stem cells (HSCs) and mesenchymal stem cells (MSCs), may provide an ideal protective niche since they are found in tuberculosis lung granulomas of infected humans and mice; renew themselves; possess drug efflux pumps, such as ABCG2 (603756); produce only low levels of reactive oxygen species; are quiescent; and are found in the immune-privileged niche in bone marrow. By screening BMSCs expressing the CD133 (604365) marker and several BMSC subpopulations, Das et al. (2013) found that undifferentiated CD271 (NGFR; 162010)-positive/CD45 (151460)-negative MSCs, but not CD34 (142230)-positive/CD45-positive HSCs, were permissive for and tolerated Mtb. Experiments in mice showed that Mtb, even if in a nonreplicating state, resided in MSCs in both bone marrow and lungs, particularly in the ABCG2-positive side population of lung MSCs. Studies in patients who had successfully completed monitored tuberculosis treatment demonstrated that Mtb DNA and, in some patients, viable Mtb could be isolated from CD271-positive/CD45-negative bone marrow MSCs. Das et al. (2013) proposed that CD271-positive bone marrow MSCs can provide a long-term protective niche in which dormant Mtb resides.
Using transcriptomic analysis, Kubler et al. (2016) showed that several collagen-degrading proteases, including Mmp1 (120353), Mmp13 (600108), Mmp14 (600754), Cma1 (118938), and Ctsk (601105), were highly upregulated in a rabbit cavitary TB model. Ctsk was the most upregulated type I collagenase in both cavitary and granulomatous tissue, as assessed by RT-PCR and immunohistochemical analysis, and the authors noted that it is unique in its ability to cleave type I collagen (see COL1A1, 120150) inside and outside the helical region. Serum levels of CICP and free urinary deoxypyridinoline, turnover products of type I collagen, were increased, whereas urinary helical peptide was decreased, in rabbits with terminal cavities. Expression of Col1a1, Col1a2 (120160), and Col3a1 (120180) was increased in cavity wall tissue. Immunohistochemical analysis demonstrated CTSK expression in mononuclear and multinucleated giant cells at the periphery of pulmonary lesions and cavity surfaces in patients with TB. Plasma CTSK was significantly higher in patients with active TB compared with healthy controls. Kubler et al. (2016) proposed that CTSK-mediated collagen degradation plays an important role in cavity formation in TB.
Using a zebrafish genetic screen, Berg et al. (2016) identified a mutation in the transcriptional coregulator Snapc1b (600591) that resulted in hypersusceptibility to Mycobacterium marinum. RNA sequencing analysis of Snapc1b mutants showed reduced expression of cathepsins B (CTSB; 116810) and L (CTSL; 116880). Mutant macrophages accumulated undigested lysosomal material, disrupting endocytic recycling and impairing macrophage migration to and engulfment of dying cells and cell debris. Macrophages with lysosomal storage could not migrate toward mycobacteria-infected macrophages undergoing apoptosis in a tuberculous granuloma. Unengulfed apoptotic macrophages underwent secondary necrosis, resulting in granuloma breakdown and increased mycobacterial growth. Bronchoalveolar lavage analysis showed that the phenotype could be recapitulated in human smokers, who are at increased risk for TB. Alveolar macrophages of smokers accumulated tobacco smoke particulates and did not migrate to M. tuberculosis. Smoking cessation ameliorated the condition, and ex-smoker alveolar macrophages migrated nearly as well to M. tuberculosis as cells of nonsmokers. Likewise, macrophages from patients with Gaucher disease (see 230800) had migration defects, and these patients had greater susceptibility to infections, including mycobacteria. Berg et al. (2016) concluded that incapacitation of microbicidal first-responding macrophages may contribute to smokers' susceptibility to TB.
### Reviews
Behr et al. (2010) reviewed several studies implicating stimulation of antiinflammatory molecules and inhibition of autophagy by virulent mycobacteria as a means to evade the host immune system.
Diagnosis
By RT-PCR and immunohistochemical analysis, Gopal et al. (2013) demonstrated that rhesus macaques and humans with active TB compared with latent TB infection had increased levels of S100A8 (123885) and neutrophils expressing S100A8. Additionally, serum levels of S100A8/S100A9 (123885/123886), IP10 (CXCL10; 147310), and the neutrophil and keratinocyte chemoattractant KC (CXCL1; 155730) were increased in active TB compared with latent TB infection. Gopal et al. (2013) proposed that serum levels of S100A8/S100A9, along with chemokines such as KC, can be used as surrogate markers of lung inflammation during TB and can predict the development of active TB in patients with latent TB infection in TB-endemic, high-risk populations.
Inheritance
Abel and Casanova (2000) reviewed the evidence for genetic predisposition to clinical tuberculosis. From published reports, they recognized a gap between causal susceptibility in rare individuals and uncertain predisposition in general populations. They expressed the opinion that these 2 aspects of genetic predisposition to tuberculosis do not conflict but, rather, are likely to represent the 2 ends of a continuous spectrum.
Mapping
Bellamy et al. (2000) conducted a 2-stage genomewide linkage study of 136 African families to search for regions of the human genome containing tuberculosis susceptibility genes. They used sib-pair families that contained 2 full sibs who had both been affected by clinical tuberculosis. For any chromosomal region containing a major tuberculosis susceptibility gene, affected sib-pairs inherit the same parental alleles much more than expected by chance. In the first round of the screen, 299 highly informative genetic markers, spanning the entire human genome, were typed in 92 sib-pairs from The Gambia and South Africa. In this process, they identified 7 chromosomal regions that showed provisional evidence of coinheritance with clinical tuberculosis. From these regions, 22 markers were genotyped in a second set of 81 sib-pairs from the same countries. Markers on 15q11-q13 and Xq (300259) showed suggestive evidence of linkage (lod = 2.00 and 1.77, respectively) to tuberculosis. An X chromosome susceptibility gene might contribute to the excess of males with tuberculosis observed in many different populations.
Cervino et al. (2002) tested 10 microsatellite markers and 5 positional candidate genes in the 15q11-q13 chromosomal region for deviation from random transmission from parents to affected offspring. A borderline significant association with a 7-bp deletion in the UBE3A gene (601623) (P = 0.01) was found. This polymorphism was then evaluated further in a larger series of families with tuberculosis, including 44 Guinean families and 57 families from South Africa. Testing for association between the deletion and tuberculosis across all the families using the exact symmetry test further supported the association (overall P = 0.002). The authors suggested that UBE3A or a closely flanking gene may be a tuberculosis susceptibility locus.
A region of mouse chromosome 11 that is syntenic with human chromosome 17q11-q21 is known to carry a susceptibility gene(s) for intramacrophage pathogens. To examine this region in humans, Jamieson et al. (2004) studied 92 multicase tuberculosis families (627 individuals) and 72 multicase leprosy (246300) families (372 individuals) from Brazil. Multipoint nonparametric analysis using 16 microsatellites showed 2 peaks of linkage for leprosy at D17S250 and D17S1795 and a single peak for tuberculosis at D17S250. Combined analysis showed significant linkage at D17S250, equivalent to an allele sharing lod score of 2.48 (p of 0.0004). Jamieson et al. (2004) typed 49 informative SNPs in candidate genes, and family-based allelic testing that was robust to family clustering showed significant associations with tuberculosis susceptibility at 4 genes, NOS2A (163730), CCL18 (603757), CCL4 (182284), and STAT5B (604260), separated by intervals up to several Mb. Stepwise conditional logistic regression analysis using a case/pseudo-control dataset showed that the 4 genes contributed separate main effects, consistent with a cluster of susceptibility genes across chromosome 17q11.2.
In a 2-stage genomewide scan of 38 multicase tuberculosis families (349 individuals) in Brazil, Miller et al. (2004) found suggestive evidence for linkage to chromosomes 10q26.13, 11q12.3, and 20p12.1. Peak lod scores for these regions were 1.31 (p of 0.007), 1.85 (p of 0.0018), and 1.78 (p of 0.0021), respectively.
Using genomewide linkage and positional mapping of TB-affected sib pairs in South Africans of mixed racial origin and in Africans from northern Malawi, Cooke et al. (2008) identified 2 novel putative TB susceptibility loci on chromosomes 6p21-q23 and 20q13.31-q33 (MTBS3; 612929). The latter locus had a highly significant single-point lod score of 3.1.
See 613636 for information on TST1, a locus on chromosome 11p14 associated with absence of tuberculin skin test (TST) reactivity.
See 613637 for information on TST2, a quantitative trait locus of chromosome 5p15 for TST reactivity measured in millimeters.
Molecular Genetics
There is substantial evidence from studies on racial variation in susceptibility to tuberculosis (Stead et al., 1990; Stead, 1992) and twin studies (Comstock, 1978; Bellamy et al., 1998) that host genetic factors are important in determining susceptibility to infection with Mycobacterium tuberculosis and the subsequent development of clinical disease. In a large case-control study in Gambians, including more than 800 subjects, Bellamy et al. (1998, 1999) showed that genetic variants of NRAMP1 and VDR are associated with smear-positive pulmonary tuberculosis. However, together, these can only account for a small proportion of the overall genetic component suggested by twin studies.
Selvaraj et al. (2004) presented evidence suggesting that polymorphisms in the VDR gene may predispose to spinal TB.
Bornman et al. (2004) genotyped the VDR SNPs FokI, BsmI, ApaI, and TaqI in TB patients, controls, and families in the Gambia, Guinea, and Guinea-Bissau. By transmission-disequilibrium analysis of family data, they found a significant global association of TB with the SNP combinations FokI-BsmI-ApaI- TaqI and FokI-ApaI driven by increased transmission of the FokI F and ApaI A alleles in combination to affected offspring. Case-control analysis showed no significant association between TB and VDR variants. Bornman et al. (2004) concluded that there is a haplotype, rather than a genotype, association between VDR variants and susceptibility to TB.
Mitsos et al. (2003) noted that only a small proportion of individuals who come in contact with M. tuberculosis develop active TB, and a wide clinical spectrum of disease severity is observed in such individuals. Appearance of full-blown disease is determined in part by microbial virulence determinants and by environmental and host factors, such as social conditions and immune status, most critically by the presence of concomitant HIV infection. An important genetic component of vulnerability to TB in humans affecting susceptibility per se, disease progression, and ultimate outcome had been well documented Casanova and Abel (2002). This genetic component is supported by epidemiologic data pointing to racial differences in susceptibility, as well as familial aggregation. Studies of first-contact epidemics in isolated populations with no ancestral experience of this infection, survival data from accidental injection of virulent M. tuberculosis during a BCG vaccination trial (the Lubeck disaster), and studies in twins showing higher concordance rates of TB in monozygotic versus dizygotic twins provided compelling evidence that host genes affect the outcome of M. tuberculosis infection (Kallmann and Reisner, 1943; Simonds, 1963; Comstock, 1978). Rare mutations in the IFN-gamma receptor-1 gene (IFNGR1; 107470) had been demonstrated in familial generalized BCG infection and in familial disseminated infection with an atypical mycobacterium (see 209950). Similarly, susceptibility to mycobacterial infections had been demonstrated in rare mutations in the interleukin-12 receptor (IL12RB1; 601604) and in interleukin-12B (IL12B; 161561).
Ozbek et al. (2005) reported an 11-year-old Turkish girl with IL12RB1 deficiency and severe abdominal tuberculosis. She was the fourth child of healthy, consanguineous parents. Like her parents and sibs, she had had no adverse effect from BCG vaccination, and there was no family history of mycobacterial disease or other intracellular infectious diseases. The patient did not show augmented production of IFNG (147570) in response to antigen plus IL12. Ozbek et al. (2005) identified a homozygous splice site mutation in the IL12RB1 gene that led to skipping of exon 9 (601604.0006). They concluded that a diagnosis of IL12RB1 deficiency should be considered for children with unusually severe tuberculosis, even if they have no personal or family history of infection with weakly virulent Mycobacterium or Salmonella species.
Soborg et al. (2003) examined MBL genotypes and serum MBL levels in 109 patients with clinical tuberculosis and 250 controls. Heterozygotes with a variant MBL structural allele associated with low functional serum MBL on one chromosome and a normal MBL structural allele with a low-expression promoter polymorphism on the other chromosome appeared to be relatively protected against clinical tuberculosis, whereas genotypes associated with high MBL expression and genotypes conferring MBL deficiency were not. Soborg et al. (2003) proposed that low serum MBL may be protective against tuberculosis by limiting complement activation and uptake of bacilli by complement receptors. In the absence of MBL, bacilli may be taken up directly by mannose receptors (e.g., MRC1; 153618).
Barreiro et al. (2006) examined CD209 polymorphisms in 351 TB patients and 360 healthy controls from a South African Coloured population (historically derived from Khoisan, Malaysian, Bantu, and European descent populations) living in communities with some of the highest reported incidence rates of TB in the world. They identified 2 CD209 promoter variants, -871A (604672.0002) and -336G (604672.0001), that were associated with increased risk of TB. One haplotype of 8 SNPs, including -871G and -336A, showed a highly significant association with the control group. Further analysis of sub-Saharan African, European, and Asian populations showed that the protective -336A and -871G alleles were present at higher frequencies in Eurasians than in Africans. Barreiro et al. (2006) suggested that the longer and more intense duration of TB exposure in Europe may have exerted stronger selective pressures in this population and may have had an impact on susceptibility to infection by other pathogens, such as HIV and dengue (see 614371).
Malik et al. (2006) reported a significant association (p = 0.007 after Bonferroni correction) between a synonymous 307G-A SNP in the gene encoding surfactant pulmonary-associated protein A1 (SFTPA1; 178630) and susceptibility to tuberculosis in an Ethiopian population. The authors suggested that the polymorphism may affect splicing and/or mRNA maturation. Malik et al. (2006) noted that Floros et al. (2000) had previously reported an association between SFTPA1 polymorphisms and tuberculosis in a Mexican population.
Goldfeld et al. (1998) demonstrated a significant association between the *0503 allele of HLA-DQB1 (604305) and susceptibility to tuberculosis in Cambodian patients. This appeared to be the first identified gene associated with the development of clinical tuberculosis.
In a study of 436 Cambodian patients with tuberculosis, Delgado et al. (2006) found that susceptibility to tuberculosis was significantly associated with homozygosity for the asp57 allele of HLA-DQB1. Two immunogenic proteins of Mycobacterium tuberculosis, Esat6 and Cfp10, bound less well to asp57 than to ala57. Presentation of these tuberculosis proteins to T cells resulted in significantly decreased production of IFNG when the antigen-presenting cells expressed asp57 rather than ala57. Delgado et al. (2006) concluded that HLA-DQB1 has a role in the host immune response to tuberculosis.
Flores-Villanueva et al. (2005) found that Mexicans heterozygous or homozygous for the -2518G allele of the -2518A-G SNP (158105.0003) had a 2.3- and 5.4-fold increased risk of developing active pulmonary tuberculosis, respectively. Among Korean patients, the increased risk was 2.8- and 6.9-fold higher, respectively.
Thye et al. (2009) determined the -2518 genotype and additional MCP1 variants in over 2,000 cases with pulmonary TB and more than 2,300 healthy controls and 332 affected nuclear families from Ghana, West Africa, and over 1,400 TB patients and more than 1,500 controls from Russia. In contrast to the report of Flores-Villanueva et al. (2005), MCP1 -2518 (rs1024611) was significantly associated with resistance to TB in cases versus controls (odds ratio (OR) 0.81, corrected P value (Pcorr) = 0.0012) and nuclear families (OR 0.72, Pcorr = 0.04) and not with disease susceptibility, whereas in the Russian sample no evidence of association was found (P = 0.86). These and other results did not support an association of MCP1 -2518 with TB. In the Ghanaian population, 8 additional MCP1 polymorphisms were genotyped. MCP1 -362C was associated with resistance to TB in the case-control collection (OR 0.83, Pcorr = 0.00017) and in the affected families (OR 0.7, Pcorr = 0.004). Linkage disequilibrium (LD) and logistic regression analyses indicated that, in Ghanaians, the effect was due exclusively to the MCP1 -362 variant, whereas the effect of -2518 may in part be explained by its LD with -362.
Studies in mice (Flynn et al., 1995) and observations in patients receiving infliximab (remicade) for treatment of rheumatoid arthritis (180300) or Crohn disease (see IBD1, 266600) (Keane et al., 2001) have shown that antibody-mediated neutralization of TNF (191160) increases susceptibility to TB. However, excess TNF may be associated with severe TB pathology (Barnes et al., 1990). Using path and segregation analysis and controlling for environmental differences, Stein et al. (2005) evaluated TNF secretion levels in Ugandan TB patients. The results suggested that there is a strong genetic influence, due to a major gene, on TNF expression in TB, and that there may be heterozygote advantage. The effect of shared environment on TNF expression in TB was minimal. Stein et al. (2005) concluded that TNF expression is an endophenotype for TB that may increase power to detect disease-predisposing loci.
As a follow-up to their studies examining TNF levels in response to M. tuberculosis culture filtrate antigen as an intermediate phenotype model for TB susceptibility in a Ugandan population, Stein et al. (2007) studied genes related to TNF regulation by positional candidate linkage followed by family-based SNP association analysis. They found that the IL10, IFNGR1, and TNFR1 (TNFRSF1A; 191190) genes were linked and associated to both TB and TNF. These associations were with active TB rather than susceptibility to latent infection.
To test the hypothesis that a polymorphism in IFNG (147570) is associated with susceptibility to tuberculosis, Rossouw et al. (2003) conducted 2 independent studies. In a case-control study of 313 tuberculosis cases, they noted a significant association between a polymorphism (+874A-T; 147570.0002) in IFNG and protection against tuberculosis in a South African population (p = 0.0055). This finding was replicated in a family-based study, in which the transmission disequilibrium test was used in 131 families (p = 0.005). The transcription factor NF-kappa-B (NFKB1; 164011) binds preferentially to the +874T allele, which was overrepresented in controls, suggesting that genetically-determined variability in IFNG and expression might be important for the development of tuberculosis.
In a case-control study of 682 TB patients and 619 controls from 3 West African countries (Gambia, Guinea-Bissau, and Guinea-Conakry), Cooke et al. (2006) observed the IFNG +874AA genotype more frequently in TB patients than controls, but the trend was not statistically significant. However, the +874A-T SNP was in strong linkage disequilibrium with 2 other SNPs, -1616G-A and +3234T-C, and both the -1616GG and +3234TT genotypes were significantly associated with TB. Haplotype analysis in a smaller Gambian population sample showed that the 3 alleles putatively associated with TB were all found on the most common West African haplotype, which, although overtransmitted, was not significantly associated with disease in this smaller population. Cooke et al. (2006) also found that the -56CC genotype of the IFNGR1 (107470) promoter -56C-T SNP (107470.0012) was associated with protection from TB. No associations with TB were observed with SNPs in the IFNGR2 gene (147569). Cooke et al. (2006) concluded that there is a significant role for genetic variation in IFNG and IFNGR1 in susceptibility to TB.
Khor et al. (2007) found that heterozygous carriage of a leucine substitution at ser180 of the TIRAP gene (606252.0001) associated independently with protection against 4 infectious diseases, including tuberculosis, in several different study populations.
The immunity-related GTPase IRGM (608212) is a mediator of innate immune responses and induces autophagy. Intemann et al. (2009) examined variants in the IRGM gene using a case-control study of 2,010 HIV-seronegative TB patients and 2,346 healthy controls in Ghana. They found a trend for association of homozygosity for -261C-T (rs9637876), which is located within an Alu sequence in the promoter region of IRGM, with protection from TB. IRGM -261TT was significantly associated with protection from TB caused by M. tuberculosis (OR = 0.79; P = 0.017), but not by M. africanum, a strain restricted to West Africa, or M. bovis. Further stratification of mycobacterial genotypes revealed that protection associated with -261TT applied exclusively to carriers of M. tuberculosis from the Euro-American (EUAM) lineage (OR = 0.63; nominal P = 0.0004; corrected P = 0.0019), but not to carriers of M. tuberculosis from the East African-Indian, Beijing, or Dehli lineages. The EUAM lineage of the M. tuberculosis clade, but not other strains, has a damaged gene encoding a phenolic glycolipid. No association was found for carriers of the heterozygous -261CT genotype. The -261T IRGM variant was predicted to disrupt several transcription factor-binding sites, and luciferase analysis showed significantly increased expression of the -261T IRGM variant compared with the -261C IRGM variant, suggesting enhanced expression of the mature IRGM protein. Intemann et al. (2009) proposed that IRGM and autophagy have a role in protection against natural infection with EUAM strains, and that M. tuberculosis lineages expressing mycobacterial phenolic glycolipid inhibit innate immune responses involving autophagy.
Given the altered balance of pro- and antiinflammatory eicosanoids in zebrafish with mutations in leukotriene A4 hydrolase (LTA4H; 151570), Tobin et al. (2010) hypothesized that LTA4H polymorphisms may alter the response to human mycobacterial infections that cause TB and leprosy (see 609888). Comparison of 692 Vietnamese HIV-seronegative pulmonary and meningeal TB patients with 759 healthy controls revealed fewer heterozygotes at each of 6 LTA4H SNPs (rs1978331, rs17677715, rs2247570, rs2660898, rs2660845, and rs2540475) in TB patients. Comparison of frequencies of heterozygotes versus homozygotes among TB patients and controls yielded odds ratios (ORs) less than 1 at all 6 SNPs. Adjusting for multiple comparisons, association of heterozygosity with lower incidence of TB was significant at rs1978331 and rs2660898 (P = 0.011 and 0.0003, respectively, after Bonferroni correction), the 2 SNPs intragenic in LTA4H with common minor allele frequencies. Among 53 meningeal TB patients heterozygous at both rs1978331 and rs2660898, only 4% died within 300 days after diagnosis. In contrast, mortality was 16% among 156 meningeal TB patients homozygous at these SNPs. Evaluation of 335 paucibacillary leprosy patients, 121 multibacillary (MB) leprosy patients with erythema nodosum leprosum (ENL), and 443 MB leprosy patients without ENL from Nepal showed that LTA4H heterozygosity at rs1978331 and rs2660898 was significantly associated with a lower incidence of MB leprosy without ENL (OR = 0.62 and P = 0.001 for rs1978331, and OR = 0.70 and P = 0.021 for rs2660898). Tobin et al. (2010) concluded that LTA4H heterozygosity is associated with protection from TB infection, lower mortality among patients with severe TB infection, and protection from development of severe leprosy disease among exposed individuals. They proposed that LTA4H heterozygosity may reflect an optimal balance, or rheostat mechanism, of pro- and antiinflammatory eicosanoids (i.e., LTB4 and LXA4, respectively), and that modulation of lipoxins, informed by LTA4H genotypes, may result in better outcomes for patients with TB meningitis.
Using a retrospective case-control study of 151 TB patients and 116 controls in Turkey, Ogus et al. (2004) found an increased risk of TB in carriers of a nonsynonymous 2258G-A SNP in the TLR2 gene that results in an arg753-to-gln (R753Q; 603028.0003) substitution. The risk of developing TB was 6.0-fold and 1.6-fold higher in AA homozygotes and GA heterozygotes, respectively. Ogus et al. (2004) concluded that the R753Q substitution in TLR2 may influence susceptibility to and severity of TB disease and suggested that larger studies are needed to clarify the issue.
Using a mixed case-control association analysis of 279 African American and 198 Caucasian TB patients and 166 African American and 123 Caucasian controls, Velez et al. (2009) identified 10 SNPs in NOS2A that were associated with TB in African Americans but not Caucasians. Additionally, they identified gene-gene interactions between SNPs in NOS2A and IFNGR1 and TLR4. Velez et al. (2009) proposed that NOS2A variants may contribute to TB susceptibility in individuals of African descent and that these variants may act synergistically with SNPs in IFNGR1 and TLR4.
Using a candidate gene case-population study of 671 Vietnamese TB patients and 760 cord blood controls, Shah et al. (2012) found that the minor alleles of rs3750920 and rs5743899 in the TOLLIP gene (606277) were associated with protection from and susceptibility to TB, respectively (p = 7.03 x 10(-16) and p = 6.97 x 10(-7), respectively). Shah et al. (2012) concluded that regulation of the TLR pathway by TOLLIP is critical in susceptibility to TB.
Zhang et al. (2014) examined the genotype distribution of 4 IL1B (147720) SNPs with potential regulatory effects in 2 independent Chinese populations with TB and 2 independent sets of healthy controls (1,799 total TB cases and 1,707 total controls). They found that only the frequency of the T allele of the -31C-T SNP (147720.0001; rs1143627) in the IL1B promoter was significantly higher in patients with active TB, both pulmonary and extrapulmonary. High-resolution computer-assisted tomography analysis indicated that the -31T allele was associated with more severe pulmonary TB than the -31C allele. Stimulation of monocytes with Mtb antigens resulted in higher amounts of IL1B protein and mRNA, but not of IL1R antagonist (IL1RN; 147679), in healthy controls carrying -31TT or -31TC compared with those carrying -31CC. Stimulation of peripheral blood mononuclear cells (PBMCs) with Mtb antigens resulted in no significant differences in IFNG or IL17 (603149) production in controls; however, stimulation was associated with higher IFNG production in TB patients carrying -31TT. Analysis of bronchoalveolar lavage fluid from patients with active TB showed that higher IL1B production was associated with higher neutrophil recruitment. EMSA supershift analysis detected higher binding of CEBPA (116897) and PU.1 (SPI1; 165170) to the -31T oligonucleotide compared with the -31C oligonucleotide. Zhang et al. (2014) concluded that the higher IL1B production and neutrophil recruitment associated with -31T lead to increased tuberculosis susceptibility, tissue-damaging inflammatory responses, and accelerated disease progression.
Using direct sequencing, Salie et al. (2014) typed the HLA class I (see HLA-B, 142830) alleles from 300 South African patients with TB. The patients were recruited from suburban Cape Town, where TB prevalence is high, HIV infection is low, and the population is highly admixed. Salie et al. (2014) also genotyped the Mtb strains in each patient. They found that the Beijing Mtb strain occurred more frequently in individuals with multiple disease episodes and that the HLA-B27 allele lowered the odds of having an additional episode and of developing an infection with another Mtb strain. Salie et al. (2014) showed that various HLA types were associated with strains originating from both the European American and East Asian lineages, suggesting coevolutionary events between host and pathogen.
### Associations Pending Confirmation
See 604457.0003 and 604457.0004 for discussion of a possible association between susceptibility to Mycobacterium tuberculosis and variation in the SP110 gene.
For discussion of a possible association between protection against latent Mycobacterium tuberculosis infection (LTBI) and variation in the ULK1 gene, see 603168.
### Reviews
Berrington and Hawn (2007) reviewed common genetic variation in the innate immune response and its influence on TB susceptibility. They emphasized variants identified through human genetic studies as associated with TB susceptibility and the functional effects of these polymorphisms on the cellular immune response. Their Table 1 summarized the candidate genes and variants examined to date, the status of replication studies, associations of the variants with other diseases, and the functional effects of the variants.
Animal Model
Flynn et al. (1995) found that mice lacking the Tnf receptor p55 gene (TNFRSF1A; 191190) and infected intravenously with Mycobacterium tuberculosis showed significantly decreased survival, higher bacterial loads, increased necrosis, delayed reactive nitrogen intermediate production and Inos (NOS2A; 163730) expression, and reduced protection after BCG vaccination than wildtype mice. Based on these results and studies using a monoclonal antibody to neutralize Tnf in mice, Flynn et al. (1995) concluded that Tnf and Tnf receptor p55 are necessary, if not solely responsible, for protection against murine TB infection.
Roach et al. (2002) noted that TNF is essential for the formation and maintenance of granulomas and for resistance against infection with Mycobacterium tuberculosis. Mice lacking Tnf mount a delayed chemokine response associated with a delayed cellular infiltrate. Subsequent excessive chemokine production and an intense but loose and undifferentiated cluster of T cells and macrophages, capable of producing high levels of Ifng in vitro, were unable to protect Tnf -/- mice from fatal tuberculosis after approximately 28 days, whereas all wildtype mice survived for at least 16 weeks. Roach et al. (2002) concluded that TNF is required for the early induction of chemokine production and the recruitment of cells forming a protective granuloma. The TNF-independent production of chemokines results in a dysregulated inflammatory response unable to contain M. tuberculosis.
The mouse DBA/2 (D2) strain is very susceptible to infection with virulent Mycobacterium tuberculosis, whereas C57BL/6 (B6) is much more resistant. Infection of D2 and B6 mice with M. tuberculosis by the respiratory route is biphasic: during the first 3 weeks, there is rapid bacterial growth in the lung of both strains, whereas beyond this point replication stops in B6 but continues in D2, causing rapidly fatal pulmonary disease. By QTL mapping, Mitsos et al. (2003) identified a major locus on chromosome 19 (lod = 5.6), designated tuberculosis resistance locus-4 (Trl4), which regulated pulmonary replication of M. tuberculosis and accounted for 25% of the phenotypic variance. B6 alleles at Trl4 were inherited in an incompletely dominant fashion and associated with reduced bacterial replication. An additional effect of a QTL on mouse chromosome 7 previously shown to affect survival to intravenous infection with M. tuberculosis, Trl3, was also noted. F2 mice homozygous for B6 alleles at both Trl3 and Trl4 were as resistant as B6 parents, whereas mice homozygous for D2 alleles were as susceptible as D2 parents. The evidence suggested a strong genetic interaction between the Trl3 locus on chromosome 7 and the Trl4 locus on chromosome 19, which are syntenic with human chromosomes 19q13 and 10q, respectively.
Using 'diversity outbred' (DO) mice, Gopal et al. (2013) observed different lung inflammatory responses and susceptibility to infection with Mtb. Lower Mtb burdens were associated with well-organized B-lymphoid follicles and elevated Ifng (147570). Mice with increased pulmonary inflammation harbored more S100a8-expressing neutrophils and showed increased Cxcl1, Il17 (603149), and lung S100a8/S100a9 expression. Treatment of Mtb-infected wildtype mice with anti-Ifng resulted in increased accumulation of S100a8-expressing neutrophils and exacerbation of inflammation. In contrast, treatment of Mtb-infected S100a9 -/- mice, which also do not express S100a8, with anti-Ifng resulted in loss of lung inflammation and neutrophil accumulation. Gopal et al. (2013) concluded that IL17 overexpression, through an S100A8/S100A9-dependent pathway, mediates exacerbated neutrophil recruitment and lung inflammation during TB.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO
|
c0041296
| 28,274 |
omim
|
https://www.omim.org/entry/607948
| 2019-09-22T16:08:30 |
{"mesh": ["D014376"], "omim": ["607948"], "orphanet": ["3389"]}
|
Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate.
## Epidemiology
It is the least frequent form of tyrosinemia (see this term) with less than 20 cases reported in the literature so far.
## Clinical description
The clinical picture is highly variable ranging from asymptomatic in patients identified through neonatal screening program studies to patients with neurologic manifestations including intellectual deficit and ataxia.
## Etiology
Tyrosinemia type 3 is caused by mutations in the HPD gene (12q14-qter) encoding 4-hydroxyphenylpyruvate dioxygenase.
## Genetic counseling
Tyrosinemia type 3 is transmitted as an autosomal recessive trait
## Management and treatment
Despite the variable clinical picture, patients with tyrosinemia type 3 are recommended to follow a phenylalanine- and tyrosine-restricted diet.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Tyrosinemia type 3
|
c0268623
| 28,275 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=69723
| 2021-01-23T17:12:54 |
{"gard": ["10332"], "mesh": ["D020176"], "omim": ["276710"], "umls": ["C0268623"], "icd-10": ["E70.2"], "synonyms": ["Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency", "Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency", "Tyrosinemia due to HPD deficiency", "Tyrosinemia type III"]}
|
Ichthyosis linearis circumflexa
SpecialtyDermatology
Ichthyosis linearis circumflexa is a distinctive skin condition of generalized hyperkeratosis and polycyclic and serpiginous erythematous plaques with a characteristic, migratory, double-edged scale at the margins, and is the typical cutaneous manifestation of Netherton's syndrome.[1]:496[2]:563
## See also[edit]
* Ichthyosis prematurity syndrome
* List of cutaneous conditions
## References[edit]
1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
2. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
This Genodermatoses article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Ichthyosis linearis circumflexa
|
c0265962
| 28,276 |
wikipedia
|
https://en.wikipedia.org/wiki/Ichthyosis_linearis_circumflexa
| 2021-01-18T18:40:49 |
{"gard": ["2967"], "mesh": ["D056770"], "umls": ["C0265962"], "wikidata": ["Q5986443"]}
|
A rare, genetic, neurological disorder characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that may lead to dementia. EEG reveals progressive slowing of background activity and epileptic abnormalities and brain MRI shows cerebellar and brainstem atrophy.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Progressive myoclonic epilepsy type 8
|
c4015619
| 28,277 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=424027
| 2021-01-23T18:40:48 |
{"omim": ["616230"], "icd-10": ["G40.3"], "synonyms": ["EPM8", "PME type 8", "Progressive myoclonic epilepsy due to CERS1 deficiency", "Progressive myoclonus epilepsy type 8"]}
|
46,XX/46,XY is an exceptionally rare chimeric genetic condition characterized by the presence of some cells that express a 46,XX karyotype and some cells that express a 46,XY karyotype in a single human being. The cause of the condition lies in utero with the aggregation of two distinct blastocysts or zygotes (one of which expresses 46,XX and the other of which expresses 46,XY) into a single embryo,[1] which subsequently leads to the development of a single individual with two distinct cell lines, instead of a pair of fraternal twins. 46,XX/46,XY chimeras are the result of the merging of two non-identical twins. This is not to be confused with mosaicism or hybridism, neither of which are chimeric conditions. Since individuals with the condition have two cell lines of the opposite sex, it can also be considered an intersex condition.
In humans, sexual dimorphism is a consequence of the XY sex-determination system. In normal prenatal sex differentiation, the male and female embryo is anatomically identical until week 7 of the pregnancy, when the presence or the absence of the SRY gene on the Y chromosome causes the undetermined gonadal tissue to undergo differentiation and eventually become a pair of testes or ovaries respectively.[citation needed] The cells of the developing testes produce anti-müllerian hormone (AMH) and androgens, causing the reproductive tract and the genitals of the fetus to differentiate.[2] As individuals with 46,XX/46,XY partially express the SRY gene, the normal process by which an embryo normally develops into a phenotypic male or phenotypic female may be significantly affected causing variation in the gonads, the reproductive tract and the genitals.[3] Despite this, there have been cases of completely normal sex differentiation occurring in 46,XX/ 46,XY individuals reported in the medical literature.[4][5][6] 46,XX/46,XY chimerism can be identified during pregnancy by prenatal screening or in early childhood through genetic testing and direct observation.[7]
The rate of incidence is difficult to determine as the majority of diagnoses go unreported in the literature.
## Contents
* 1 Signs & Symptoms
* 1.1 Physical
* 1.2 Cognitive
* 2 Genetic Mechanism
* 3 Diagnosis
* 3.1 Pre-birth Testing
* 3.2 Post-birth Testing
* 4 Management
* 5 References
* 6 External links
## Signs & Symptoms[edit]
### Physical[edit]
46,XX/ 46,XY is associated with a wide spectrum of different physical presentations, ranging from what was formerly known as "true hermaphroditism" [8][9][10][3] to a completely normal male or female phenotype.[4][5][6] Due to this variation, genetic testing is the only way to reliably make a diagnosis.
46,XX/46,XY is possible if there is direct observation of one or more of the following:
1. Small phallus midway in size between a clitoris and a penis[3]
2. Incompletely closed urogenital opening (shallow vagina)[3]
3. Abnormal urethra opening on the perineum[3]
As individuals with 46,XX/46,XY possess both ovarian tissue and testicular tissue, depending on the individual, gonads (ovaries or testes) may function fully, partly or not at all.[7]
At puberty, a mix of male and female characteristics may emerge. Some individuals will experience deepening of the voice and secondary hair development, while others may experience breast tissue development.[7]
Segmentation of skin (distinct patches of skin) has also been observed. However, this trait is not unique to 46,XX/46,XY chimerism. It has also been observed in other types of chimerism.[3]
### Cognitive[edit]
Individuals afflicted with the condition do not experience cognitive impairment.[1]
## Genetic Mechanism[edit]
46,XX/46,XY is an example of tetragametic chimerism because it requires four gametes – two sperm and two ova.
* 46,XX/46,XY is most commonly explained by the in utero combination of two fertilized zygotes. Two ova from the mother are fertilized by two sperm from the father. One sperm contains an X chromosome; the other contains a Y chromosome. The result is that a zygote with an XY genotype and a zygote with an XX genotype are produced. Under normal circumstances, the two resulting zygotes would have gone on to become fraternal twins. However, in 46,XX/46,XY, the two zygotes fuse shortly following fertilization to become a two-cell zygote made up of two different nuclei. The zygotes fuse early enough that there is no risk of them developing into conjoined twins.[11] Variations of this mechanism include fertilization of an ovum and its first or second polar body by two sperm.[12]
* 46,XX/46,XY can also be explained by a mosaic-based mechanism. A single zygote is formed from the fertilization of a normal X ovum by an aneuploid XY sperm. The resulting XXY zygote divides to give three cell lines: 46,XX/46,XY/47,XXY. The aneuploid 47,XXY cell line is eliminated during early embryogenesis. The 46,XX/46,XY cell lines remain and go on to become a chimeric individual.[11]
* 46,XX/46,XY can also arise when a haploid ovum undergoes a round of mitosis, and the subsequent daughter cells are fertilized by an X and a Y sperm, respectively.[12]
## Diagnosis[edit]
Diagnosing a chimera is particularly difficult due to the random distribution of 46,XX and 46,XY cells within the body. An organ might be made up of a mix of 46,XX and 46,XY, but it may also be made up entirely of one genotype only. When that is the case, no abnormalities are noted and other types of tissues need to be analyzed.[12]
### Pre-birth Testing[edit]
1. Ultrasound \- looking for ambiguous genitalia[12]
2. Amniocentesis \- looking for a karyotype of 46,XX/46,XY[12]
3. Cord blood sampling - looking for a karyotype of 46,XX/46,XY
### Post-birth Testing[edit]
1. Blood testing - looking for red blood cells of different blood types[1]
2. Tissue sampling - looking for more than one set of DNA within the sample[1]
## Management[edit]
This section is empty. You can help by adding to it. (August 2017)
## References[edit]
1. ^ a b c d Aruna, N; Purushottam, RM; Rajangam, S (2006). "46,XX/46,XY chimerism - a case report". J Anat Soc India. 55 (1): 24–26.
2. ^ "Sexual differentiation in humans", Wikipedia, 2019-10-11, retrieved 2019-10-23
3. ^ a b c d e f Fitzgerald, PH; Donald, RA; Kirk, RL (1979). "A true hermaphrodite dispermic chimera with 46, XX and 46, XY karyotypes". Clin Genet. 15 (1): 89–96. doi:10.1111/j.1399-0004.1979.tb02032.x. PMID 759058.
4. ^ a b Schoenle, E (1983). "46,XX/46,XY chimerism in a phenotypically normal man". Hum Genet. 64: 86–89. doi:10.1007/bf00289485. PMID 6575956.
5. ^ a b Binkhorst, Mathijs; de Leeuw, Nicole; Otten, Barto J. (January 2009). "A healthy, female chimera with 46,XX/46,XY karyotype". Journal of Pediatric Endocrinology & Metabolism. 22 (1): 97–102. doi:10.1515/jpem.2009.22.1.97. ISSN 0334-018X. PMID 19344081.
6. ^ a b Gencík, A.; Genciková, A.; Hrubisko, M.; Mergancová, O. (1980). "Chimerism 46,XX/46,XY in a phenotypic female". Human Genetics. 55 (3): 407–408. doi:10.1007/bf00290226. ISSN 0340-6717. PMID 7203474.
7. ^ a b c Malan, V; Gesny, R; Morichon-Delvallez, N; Aubry, MC; Benachi, A; Sanlaville, D; Turleau, C; Bonnefont, JP; Fekete-Nihoul, C (2007). "Prenatal diagnosis and outcome of a 46,XX/46,XY chimera: a case report". Hum Reprod. 22 (4): 1037–1041. doi:10.1093/humrep/del480. PMID 17272360.
8. ^ Shah, V. C.; Krishna Murthy, D. S.; Roy, S.; Contractor, P. M.; Shah, A. V. (November 1982). "True hermaphrodite: 46, XX/46, XY, clinical cytogenetic and histopathological studies". Indian Journal of Pediatrics. 49 (401): 885–890. doi:10.1007/bf02976984. ISSN 0019-5456. PMID 7182365.
9. ^ Farag, T I; Al-Awadi, S A; Tippett, P; el-Sayed, M; Sundareshan, T S; Al-Othman, S A; el-Badramany, M H (December 1987). "Unilateral true hermaphrodite with 46,XX/46,XY dispermic chimerism". Journal of Medical Genetics. 24 (12): 784–786. doi:10.1136/jmg.24.12.784. ISSN 0022-2593. PMC 1050410. PMID 3430558.
10. ^ Amrani, M.; Renoirte, P. (1990). "[True hermaphroditism. Late diagnosis. Surgical treatment and a 15-year follow-up]". Chirurgie Pédiatrique. 31 (4–5): 279–283. ISSN 0180-5738. PMID 2083468.
11. ^ a b Niu, DM; Pan, CC; Lin, CY; Hwang, BT; Chung, MY (2002). "Mosaic or chimera? revisiting an old hypothesis about the cause of 46,XX/46,XY hermaphrodite". J Pediatr. 140 (6): 732–735. doi:10.1067/mpd.2002.124321. PMID 12072878.
12. ^ a b c d e Chen, CP; Chern, SR; Sheu, JC; Lin, SP; Hsu, CY; Chang, TY; Lee, CC; Wang, W; Chen, CH (2005). "Prenatal diagnosis, sonographic findings and molecular genetic analysis of a 46,XX/46,XY true hermaphrodite chimera". Prenat Diagn. 25 (6): 502–506. doi:10.1002/pd.1181. PMID 15966046.
## External links[edit]
Classification
D
* ICD-10: Q99.0
External resources
* Orphanet: 199310
* v
* t
* e
Chromosome abnormalities
Autosomal
Trisomies/Tetrasomies
* Down syndrome
* 21
* Edwards syndrome
* 18
* Patau syndrome
* 13
* Trisomy 9
* Tetrasomy 9p
* Warkany syndrome 2
* 8
* Cat eye syndrome/Trisomy 22
* 22
* Trisomy 16
Monosomies/deletions
* (1q21.1 copy number variations/1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome/1p36 deletion syndrome)
* 1
* Wolf–Hirschhorn syndrome
* 4
* Cri du chat syndrome/Chromosome 5q deletion syndrome
* 5
* Williams syndrome
* 7
* Jacobsen syndrome
* 11
* Miller–Dieker syndrome/Smith–Magenis syndrome
* 17
* DiGeorge syndrome
* 22
* 22q11.2 distal deletion syndrome
* 22
* 22q13 deletion syndrome
* 22
* genomic imprinting
* Angelman syndrome/Prader–Willi syndrome (15)
* Distal 18q-/Proximal 18q-
X/Y linked
Monosomy
* Turner syndrome (45,X)
Trisomy/tetrasomy,
other karyotypes/mosaics
* Klinefelter syndrome (47,XXY)
* XXYY syndrome (48,XXYY)
* XXXY syndrome (48,XXXY)
* 49,XXXYY
* 49,XXXXY
* Triple X syndrome (47,XXX)
* Tetrasomy X (48,XXXX)
* 49,XXXXX
* Jacobs syndrome (47,XYY)
* 48,XYYY
* 49,XYYYY
* 45,X/46,XY
* 46,XX/46,XY
Translocations
Leukemia/lymphoma
Lymphoid
* Burkitt's lymphoma t(8 MYC;14 IGH)
* Follicular lymphoma t(14 IGH;18 BCL2)
* Mantle cell lymphoma/Multiple myeloma t(11 CCND1:14 IGH)
* Anaplastic large-cell lymphoma t(2 ALK;5 NPM1)
* Acute lymphoblastic leukemia
Myeloid
* Philadelphia chromosome t(9 ABL; 22 BCR)
* Acute myeloblastic leukemia with maturation t(8 RUNX1T1;21 RUNX1)
* Acute promyelocytic leukemia t(15 PML,17 RARA)
* Acute megakaryoblastic leukemia t(1 RBM15;22 MKL1)
Other
* Ewing's sarcoma t(11 FLI1; 22 EWS)
* Synovial sarcoma t(x SYT;18 SSX)
* Dermatofibrosarcoma protuberans t(17 COL1A1;22 PDGFB)
* Myxoid liposarcoma t(12 DDIT3; 16 FUS)
* Desmoplastic small-round-cell tumor t(11 WT1; 22 EWS)
* Alveolar rhabdomyosarcoma t(2 PAX3; 13 FOXO1) t (1 PAX7; 13 FOXO1)
Other
* Fragile X syndrome
* Uniparental disomy
* XX male syndrome/46,XX testicular disorders of sex development
* Marker chromosome
* Ring chromosome
* 6; 9; 14; 15; 18; 20; 21, 22
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
46,XX/46,XY
|
None
| 28,278 |
wikipedia
|
https://en.wikipedia.org/wiki/46,XX/46,XY
| 2021-01-18T18:39:23 |
{"icd-10": ["Q99.0"], "orphanet": ["199310"], "synonyms": ["46,XX/46,XY chimerism"], "wikidata": ["Q4638276"]}
|
Vitamin K reaction
SpecialtyDermatology
Vitamin K reactions occur after injection with vitamin K, and there are two patterns of presentation, (1) a reaction may occur several days to 2 weeks after injection with skin lesions that are pruritic, red patches and plaques that can deep-seated, involving the dermis and subcutaneous tissue, or (2) with subcutaneous sclerosis with or without fasciitis, that appears at the site of injection many months after treatment.[1]:123 The latter pseudosclerodermatous reaction has been termed Texier's disease and lasts several years.[1]:123[2]
## See also[edit]
* Texier's disease
* Skin lesion
* List of cutaneous conditions
## References[edit]
1. ^ a b James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0.
2. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 319. ISBN 978-1-4160-2999-1.
## External links[edit]
Classification
D
* ICD-10: Y44.3
* ICD-9-CM: E934.3
* v
* t
* e
Adverse drug reactions
Antibiotics
* Penicillin drug reaction
* Sulfonamide hypersensitivity syndrome
* Urticarial erythema multiforme
* Adverse effects of fluoroquinolones
* Red man syndrome
* Jarisch–Herxheimer reaction
Hormones
* Steroid acne
* Steroid folliculitis
Chemotherapy
* Chemotherapy-induced acral erythema
* Chemotherapy-induced hyperpigmentation
* Scleroderma-like reaction to taxanes
* Hydroxyurea dermopathy
* Exudative hyponychial dermatitis
Anticoagulants
* Anticoagulant-induced skin necrosis
* Warfarin necrosis
* Vitamin K reaction
* Texier's disease
Immunologics
* Adverse reaction to biologic agents
* Leukotriene receptor antagonist-associated Churg–Strauss syndrome
* Methotrexate-induced papular eruption
* Adverse reaction to cytokines
Other drugs
* Anticonvulsant hypersensitivity syndrome
* Allopurinol hypersensitivity syndrome
* Vaccine adverse event
* Eczema vaccinatum
* Bromoderma
* Halogenoderma
* Iododerma
General
Skin and body membranes
* Acute generalized exanthematous pustulosis
* Bullous drug reaction
* Drug-induced acne
* Drug-induced angioedema
* Drug-related gingival hyperplasia
* Drug-induced lichenoid reaction
* Drug-induced lupus erythematosus
* Drug-induced nail changes
* Drug-induced pigmentation
* Drug-induced urticaria
* Stevens–Johnson syndrome
* Injection site reaction
* Linear IgA bullous dermatosis
* Toxic epidermal necrolysis
* HIV disease-related drug reaction
* Photosensitive drug reaction
Other
* Drug-induced pseudolymphoma
* Fixed drug reaction
* Serum sickness-like reaction
This cutaneous condition article is a stub. You can help Wikipedia by expanding it.
* v
* t
* e
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Vitamin K reaction
|
None
| 28,279 |
wikipedia
|
https://en.wikipedia.org/wiki/Vitamin_K_reaction
| 2021-01-18T18:55:36 |
{"icd-9": ["E934.3"], "icd-10": ["Y44.3"], "wikidata": ["Q7936966"]}
|
Psychasthenia
SpecialtyPsychiatry
Psychasthenia is a psychological disorder characterized by phobias, obsessions, compulsions, or excessive anxiety.[1] The term is no longer in psychiatric diagnostic use, although it still forms one of the ten clinical subscales of the popular self-report personality inventories MMPI and MMPI-2.
## Contents
* 1 Signs and symptoms
* 2 History
* 3 References
* 4 External links
## Signs and symptoms[edit]
The MMPI subscale 7 describes psychasthenia as akin to obsessive-compulsive disorder, and as characterised by excessive doubts, compulsions, obsessions, and unreasonable fears. The psychasthenic has an inability to resist specific actions or thoughts, regardless of their maladaptive nature. In addition to obsessive-compulsive features, the scale taps abnormal fears, self-criticism, difficulties in concentration, and guilt feelings. The scale assesses long-term (trait) anxiety, although it is somewhat responsive to situational stress as well.
The psychasthenic has insufficient control over their conscious thinking and memory, sometimes wandering aimlessly and/or forgetting what they were doing. Thoughts can be scattered and take significant effort to organize, often resulting in sentences that do not come out as intended, therefore making little sense to others. The constant mental effort and characteristic insomnia induces fatigue, which worsens the condition. Symptoms can possibly be greatly reduced with concentration exercises and therapy, depending on whether the condition is psychological or biological.[2]
## History[edit]
The term "psychasthenia" is historically associated[3] primarily with the work of Pierre Janet, who divided the neuroses into the psychasthenias and the hysterias, discarding the term "neurasthenia" since it implied a neurological theory where none existed.[4] Whereas the hysterias involved at their source a narrowing of the field of consciousness, the psychasthenias involved at root a disturbance in the fonction du reél ('function of reality'), a kind of weakness in the ability to attend to, adjust to, and synthesise one's changing experience (cf. executive functions in today's empiricist psychologies). Carl Gustav Jung later made the hysteric and the psychasthenic states the prototypes of what he described as extroverted and introverted personalities.[5]
Karl Jaspers preserves the term "neurasthenia", defining it in terms of "irritable weakness" and describing phenomena such as irritability, sensitivity, a painful sensibility, abnormal responsiveness to stimuli, bodily pains, strong experience of fatigue, etc. This is contrasted with "psychasthenia", which, following Janet, he describes as a variety of phenomena "held together by the theoretical concept of a 'diminution of psychic energy'." The psychasthenic person prefers to "withdraw from his fellows and not be exposed to situations in which his abnormally strong 'complexes' rob him of presence of mind, memory and poise." The psychasthenic lacks confidence, is prone to obsessional thoughts, unfounded fears, self-scrutiny and indecision. This state in turn promotes withdrawal from the world and daydreaming, yet this only makes things worse. "The psyche generally lacks an ability to integrate its life or to work through and manage its various experiences; it fails to build up its personality and make any steady development." Jaspers believed that some of Janet's more extreme cases of psychasthenia were cases of schizophrenia.[6]
## References[edit]
1. ^ American Heritage Dictionary
2. ^ Coriat, Isador H. (1911). "Psychasthenia.". Abnormal psychology. pp. 273–297. doi:10.1037/13768-014.
3. ^ Walsh, James J. (1912). "Mental incapacity (psychasthenia).". Psychotherapy: Including the History of the Use of Mental Influence, Directly and Indirectly in Healing and the Principles for the Application of Energies Derived from the Mind to the Treatment of Disease. pp. 597–603. doi:10.1037/10544-093.
4. ^ Ellenberger (1970), p. 375; Janet (1903)
5. ^ Ellenberger (1970), p. 377
6. ^ Jaspers (1963), pp.441-443
## External links[edit]
Classification
D
* ICD-10: F48.8
* ICD-9-CM: 300.89
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Psychasthenia
|
c0338900
| 28,280 |
wikipedia
|
https://en.wikipedia.org/wiki/Psychasthenia
| 2021-01-18T18:38:14 |
{"icd-9": ["300.89"], "icd-10": ["F48.8"], "wikidata": ["Q22975779"]}
|
A number sign (#) is used with this entry because of evidence that CHAND syndrome (CHANDS) is caused by homozygous mutation in the RIPK4 gene (605706) on chromosome 21q22.
Biallelic mutation in the RIPK4 gene can also cause Bartsocas-Papas syndrome (BPS; 263650), a more severe disorder with overlapping features.
Description
CHAND syndrome is characterized by ankyloblepharon, sparse, curly, and woolly hair, nail dysplasia, and oral frenula (summary by Busa et al., 2017).
Clinical Features
Baughman (1971) described a seemingly distinct syndrome characterized by curly hair and hypoplastic nails with congenital ankyloblepharon (fusion of eyelids).
Toriello (1994) suggested that the disorder reported by Ohishi et al. (1991) as a possibly new autosomal recessive ectodermal dysplasia was an example of CHANDS. Ohishi et al. (1991) reported a patient with alveolar synechia, ankyloblepharon, bilateral commissural lip pits, and inferiorly attached frenulum, hypoplastic nails, and woolly scalp hair. The parents were consanguineous, and the mother had congenital absence of the right upper second incisor and the left upper canine. The proband's older sister also had a congenital defect of the left upper deciduous canine, as well as a right inguinal hernia.
Gripp et al. (2013) reported a 5-year-old proband who presented at birth with bilateral cleft lip and palate with associated nasal deformity, ankyloblepharon of her left lid, dysplastic nails, and hypohidrosis. Her sparse hair grew slowly. She had no webbing or lip pits. Intellect was normal. Because the child was found to be homozygous for mutation in the RIPk4 gene, the authors considered the phenotype to be an attenuated from of Bartsocas-Papas syndrome.
Gollasch et al. (2015) reported 3 children in a consanguineous Kuwaiti kindred with CHANDS. All 3 showed ankyloblepharon, sparse, curly and woolly hair, and hypoplastic nails. Additional features included hypertelorism, flat nasal bridge, bilateral minimal adhesions (synechia) between lower and upper lips, and small pits on the upper lips. One patient had an imperforate vagina.
Busa et al. (2017) reported a 3-year-old boy (patient 2), born to consanguineous parents of Tunisian origin, who presented at birth with ankyloblepharon. Abdominal ultrasound revealed ureteral dilatation. Clinical examination at 1 month of age showed nail dysplasia, dry skin, bifid tongue, and multiple oral frenula. At age 3 years, his deciduous teeth were normal and his hair was curly, woolly, and sparse. Motor development was normal. He had slight speech delay.
Inheritance
Baughman (1971) suggested that this disorder is autosomal dominant; however, based on additional pedigree data obtained after the original report, Valdmanis et al. (1977) and Toriello et al. (1979) concluded that autosomal recessive inheritance is more likely, with an instance of pseudodominance as a result of multiple consanguineous matings in the family.
Molecular Genetics
In a 5-year-old girl with a presumed diagnosis of ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC; 106260) but who did not have a mutation in the TP63 gene (603273), Gripp et al. (2013) screened for mutations in the RIPK4 gene and identified homozygosity for a missense mutation (G163D; 605706.0005). The child's parents were heterozygous for the mutation. The authors considered the disorder to be an attenuated form of Bartsocas-Papas syndrome, but noted that unlike previously reported patients with BPS, their patient did not have pterygia or syndactyly. The authors also noted that TP63 is a direct transcriptional activator of RIPK4.
In 3 children in a consanguineous Kuwaiti kindred with a diagnosis of AEC or CHAND syndrome, Gollasch et al. (2015) excluded mutation in the TP63 gene and identified homozygosity for a missense mutation in the RIPK4 gene (E284K; 605706.0006) that segregated with the disorder in the family. Molecular modeling indicated that the mutation might lead to reduced stability of the homodimer structure of the protein.
In a 3-year-old boy (patient 2), born of consanguineous parents of Tunisian origin, with CHAND syndrome, Busa et al. (2017) identified homozygosity for the same E284K mutation in the RIPK4 gene that was identified in the patients reported by Gollasch et al. (2015). The authors of both articles noted that this mutation occurs outside the serine/threonine kinase and the ankyrin domains, contrasting with reported mutations in patients with BPS.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Ankyloblepharon filiform Mouth \- Commissural lip pits SKIN, NAILS, & HAIR Nails \- Nail dysplasia Hair \- Curly hair MISCELLANEOUS \- CHANDS is an acronym for Curly Hair, Ankyloblepharon filiform, Nail Dysplasia ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
CHAND SYNDROME
|
c0406733
| 28,281 |
omim
|
https://www.omim.org/entry/214350
| 2019-09-22T16:29:47 |
{"mesh": ["C538074"], "omim": ["214350"], "orphanet": ["1401"], "synonyms": ["Alternative titles", "CURLY HAIR-ANKYLOBLEPHARON-NAIL DYSPLASIA SYNDROME"]}
|
Disorder common in infants and young children
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed.
Find sources: "Autoimmune neutropenia" – news · newspapers · books · scholar · JSTOR (December 2015)
Autoimmune neutropenia
Other namesAutoimmune neutropenia of infancy and Primary autoimmune neutropenia
Pronunciation
* au-toim-mune neu-trope-nia
SpecialtyHematology
SymptomsWeak immune system, mouth ulcers, sore throat, lethargy, high fever and chills
Usual onsetPresent from Birth
DurationDisappears or weakens by age three
CausesAutoimmune abnormality
Diagnostic methodBlood tests
TreatmentGranulocyte colony-stimulating factors (G-CSF)
MedicationCorticosteroids and antibiotics
PrognosisDisappears or weakens by age three
FrequencyIn the U.s: 1 per 100,000 newborns
DeathsNone Recorded
Autoimmune neutropenia (AIN) is a form of neutropenia which is most common in infants and young children[1] where the body identifies the neutrophils as enemies and makes antibody to destroy them.
Primary autoimmune neutropenia, another name for autoimmune neutropenia, is an autoimmune disease first reported in 1975 that primarily occurs in infancy.[2] In autoimmune neutropenia, the immune system produces autoantibodies directed against the neutrophilic protein antigens in white blood cells known as granulocytic neutrophils, granulocytes, segmented neutrophils, segs, polysegmented neutrophils, or polys. These antibodies, IgG antibodies, destroy granulocytic neutrophils.[3] Consequently, patients with autoimmune neutropenia have low levels of granulocytic neutrophilic white blood cells causing a condition of neutropenia. Neutropenia causes an increased risk of infection from organisms that the body could normally fight easily.
Primary autoimmune neutropenia has been reported as early as the second month of life although most cases are diagnosed in children between 5 and 15 months of age.[3] Girls have a slightly higher risk of developing AIN than boys as well as do people of Caucasian background.[4] In neutropenia discovered at birth or shortly after birth, a diagnosis of allo-immune neutropenia (from maternal white blood cell antibodies passively transferred to the infant) is more likely.
In infants neutropenia is defined by absolute neutrophil counts less than 1000/uL. After the first year of life neutropenia is defined by absolute counts less than 1500/uL. Neutropenia may be primary in which it is the only blood abnormality seen. In secondary neutropenia, other primary conditions occur, including other autoimmune diseases, infections, and cancers. Neutropenia is considered chronic when it persists for more than 6 months.
## Contents
* 1 Signs and symptoms
* 2 Diagnosis
* 3 Treatment
* 4 Prognosis
* 5 References
* 6 External links
## Signs and symptoms[edit]
Neutropenia, which may be discovered on routine blood tests, typically causes benign infections even when the condition is severe. Ear infections (otitis media) are the most common infection seen in autoimmune neutropenia and typically infection responds to antibiotic treatment alone. Infections associated with primary AIN are usually mild and limited, including skin infections such as impetigo, gastroenteritis, upper respiratory tract infections, and ear infections. Rarely, cellulitis and abscesses may occur.[5] Studies of children studied for up to six years showed that most cases of autoimmune neutropenia resolved spontaneously after a median of 17 months. In 95 percent of patients, neutropenia persisted for 7 to 24 months.[1]
## Diagnosis[edit]
The diagnosis of autoimmune neutropenia is based on blood tests demonstrating neutropenia and the presence of granulocyte-specific antibodies. In some cases, tests for granulocyte-specific antibodies must be repeated several times before a positive result is seen. Bone marrow aspiration, if performed, is typically normal or it can show increased cell production with a variably diminished number of segmented granulocytes.[2]
An association with prior parvovirus B19 has been made, but this hasn’t been confirmed.[1]
## Treatment[edit]
Treatment consists of corticosteroids to reduce autoantibody production and antibiotics to prevent infection.
Granulocyte colony-stimulating factor (G-CSF) is recommended to temporarily increase neutrophil counts in patients with absolute neutrophil counts (ANC) of less than 0.5 x 109/l and recurrent fever or infections.[6][7]
In cases of severe infection or the need for surgery, intravenous immunoglobulin therapy may be used.[8]
## Prognosis[edit]
This form of neutropenia disappears in two to three years of a child's life in 95% of cases.[3]
The use of prophylactic antibiotics has been successfully demonstrated to reduce infection incidence without causing adverse effects among the 5% of children whose condition does not resolve itself.[9][10]
## References[edit]
1. ^ a b c Bux J, Behrens G, Jaeger G, Welte K (January 1998). "Diagnosis and clinical course of autoimmune neutropenia in infancy: analysis of 240 cases". Blood. 91 (1): 181–6. doi:10.1182/blood.V91.1.181. PMID 9414283.
2. ^ a b Farruggia P, Dufour C (February 2015). "Diagnosis and management of primary autoimmune neutropenia in children: insights for clinicians". Therapeutic Advances in Hematology. 6 (1): 15–24. doi:10.1177/2040620714556642. PMC 4298488. PMID 25642312.
3. ^ a b c Capsoni F, Sarzi-Puttini P, Zanella A (2005). "Primary and secondary autoimmune neutropenia". Arthritis Research & Therapy. 7 (5): 208–14. doi:10.1186/ar1803. PMC 1257445. PMID 16207350.
4. ^ Ancliff P. "Neutropenia (Severe Chronic)".page=2&f=N&page=2&f=N
5. ^ Mayo Clinic staff. "Neutropenia symptoms". mayoclinic.org.
6. ^ Newburger PE (December 2016). "Autoimmune and other acquired neutropenias". Hematology. American Society of Hematology. Education Program. 2016 (1): 38–42. doi:10.1182/asheducation-2016.1.38. PMC 5380382. PMID 27913460.
7. ^ Dale DC (August 2017). "How I manage children with neutropenia". British Journal of Haematology. 178 (3): 351–363. doi:10.1111/bjh.14677. PMID 28419427. S2CID 44046950.
8. ^ Susumu I. "Pediatric Autoimmune and Chronic Benign Neutropenia Treatment & Management".
9. ^ Kobayashi M, Sato T, Kawaguchi H, Nakamura K, Kihara H, Hiraoka A, et al. (July 2003). "Efficacy of prophylactic use of trimethoprim-sulfamethoxazole in autoimmune neutropenia in infancy". Journal of Pediatric Hematology/Oncology. 25 (7): 553–7. doi:10.1097/00043426-200307000-00011. PMID 12847323. S2CID 26673564.
10. ^ Bruin M, Dassen A, Pajkrt D, Buddelmeyer L, Kuijpers T, de Haas M (January 2005). "Primary autoimmune neutropenia in children: a study of neutrophil antibodies and clinical course". Vox Sanguinis. 88 (1): 52–9. doi:10.1111/j.1423-0410.2005.00585.x. PMID 15663723. S2CID 22952792.
## External links[edit]
Classification
D
* ICD-9-CM: 288.09
* DiseasesDB: 32421
External resources
* eMedicine: ped/184
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Autoimmune neutropenia
|
c0340971
| 28,282 |
wikipedia
|
https://en.wikipedia.org/wiki/Autoimmune_neutropenia
| 2021-01-18T18:59:01 |
{"wikidata": ["Q17145912"]}
|
Pregnant woman smoking outside a London hospital
Tobacco smoking during pregnancy causes many detrimental effects on health and reproduction, in addition to the general health effects of tobacco. A number of studies have shown that tobacco use is a significant factor in miscarriages among pregnant smokers, and that it contributes to a number of other threats to the health of the foetus.[1][2]
Because of the associated risks, people are advised not to smoke before, during or after pregnancy. If this is not possible, however, reducing the daily number of cigarettes smoked can minimize the risks for both the mother and child. This is especially true for people in developing countries, where breastfeeding is essential for the child's overall nutritional status.[3]
## Contents
* 1 Smoking before pregnancy
* 2 Smoking during pregnancy
* 2.1 Effects on ongoing pregnancy
* 2.1.1 Premature birth
* 2.1.2 Implications for the umbilical cord
* 2.1.3 Pregnancy-induced hypertension
* 2.1.4 Tic disorders
* 2.2 Effects of smoking during pregnancy on the child after birth
* 2.2.1 Low birth weight
* 2.2.2 Sudden infant death syndrome
* 2.2.3 Other birth defects
* 2.2.4 Future obesity
* 2.2.5 Future smoking habits
* 2.3 Quitting during pregnancy
* 3 Smoking after pregnancy
* 3.1 Breastfeeding
* 3.2 Passive smoking
* 4 Multigenerational effect
* 5 See also
* 6 References
* 7 External links
## Smoking before pregnancy[edit]
It is recommended for people planning pregnancy to stop smoking.[4] It is important to examine these effects because smoking before, during and after pregnancy is not an unusual behavior among the general population and can have detrimental health impacts, especially among both mother and child, as a result. In 2011, approximately 10% of pregnant people in data collected from 24 U.S. states reported smoking during the last three months of their pregnancy.[5]
## Smoking during pregnancy[edit]
According to a study conducted in 2008 by the Pregnancy Risk Assessment Monitoring System (PRAMS) that interviewed people in 26 states in the United States, approximately 13% of people reported smoking during the last three months of pregnancy. Of people who smoked during the last three months of pregnancy, 52% reported smoking five or fewer cigarettes per day, 27% reported smoking six to 10 cigarettes per day, and 21% reported smoking 11 or more cigarettes per day.[6]
In the United States, people whose pregnancies were unintended are 30% more likely to smoke during pregnancy than those whose pregnancies were intended.[7]
### Effects on ongoing pregnancy[edit]
Smoking during pregnancy can lead to a plethora of health risks to both the mother and the fetus.
People who smoke during pregnancy are about twice as likely to experience the following pregnancy complications:[8]
* premature rupture of membranes, which means that the amniotic sac will rupture prematurely, and will induce labour before the baby is fully developed. Although this complication generally has a good prognosis (in Western countries), it causes stress as the premature child may have to stay in the hospital to gain health and strength to be able to sustain life on their own.
* placental abruption, wherein there is premature separation of the placenta from the attachment site. The fetus can be put in distress, and can even die. The mother can lose blood and can have a haemorrhage; they may need a blood transfusion.
* placenta previa, where in the placenta grows in the lowest part of the uterus and covers all or part of the opening to the cervix.[9] Having placenta previa is an economic stress as well because it requires having a caesarean section delivery, which require a longer recovery period in the hospital. There can also be complications, such as maternal hemorrhage.
#### Premature birth[edit]
Some studies show that the probability of premature birth is roughly 1% higher for people who smoke during pregnancy, going from around -1% to 1%.[10]
#### Implications for the umbilical cord[edit]
Smoking can also impair the general development of the placenta, which is problematic because it reduces blood flow to the fetus. When the placenta does not develop fully, the umbilical cord which transfers oxygen and nutrients from the mother's blood to the placenta, cannot transfer enough oxygen and nutrients to the fetus, which will not be able to fully grow and develop. These conditions can result in heavy bleeding during delivery that can endanger mother and baby, although cesarean delivery can prevent most deaths.[11]
#### Pregnancy-induced hypertension[edit]
There is limited evidence that smoking reduces the incidence of pregnancy-induced hypertension,[12] but not when the pregnancy is with multiple babies (i.e. it has no effect on twins, triplets, etc.).[13]
#### Tic disorders[edit]
Other effects of maternal smoking during pregnancy include an increased risk for Tourette syndrome and tic disorders. There is a link between chronic tic disorders, which include Tourette syndrome and other disorders like ADHD and OCD. According to a study published in 2016 in the Journal of the American Academy of Child and Adolescent Psychiatry, there is an especially high risk for children to be born with a chronic tic disorder if their mother is a heavy smoker. Heavy smoking can be defined as ten or more cigarettes each day. With this heavy smoking, researchers have found that there is an increase in risk as high as 66% for the child to have a chronic tic disorder. Maternal smoking during pregnancy is also associated with psychiatric disorders such as ADHD. Concerning the increase risk for Tourette syndrome, there is an increased risk when two or more psychiatric disorders are also existent as maternal smoking leads to a higher chance of having a psychiatric disorder. E. (n.d.). Maternal Smoking Could Lead to an Increased Risk for Tourette Syndrome and Tic Disorders. Retrieved from https://www.elsevier.com/about/press-releases/research-and-journals/maternal-smoking-could-lead-to-an-increased-risk-for-tourette-syndrome-and-tic-disorders
### Effects of smoking during pregnancy on the child after birth[edit]
#### Low birth weight[edit]
Smoking during pregnancy can result in lower birth weight as well as deformities in the fetus.[14][15] Smoking nearly doubles the risk of low birthweight babies. In 2004, 11.9% of babies born to smokers had low birthweight as compared to only 7.2% of babies born to nonsmokers. More specifically, infants born to smokers weigh on average 200 grams less than infants born to people who do not smoke.[16]
The nicotine in cigarette smoke constricts the blood vessels in the placenta and carbon monoxide, which is poisonous, enters the fetus' bloodstream, replacing some of the valuable oxygen molecules carried by hemoglobin in the red blood cells. Moreover, because the fetus cannot breathe the smoke out, it has to wait for the placenta to clear it. These effects account for the fact that, on average, babies born to smoking mothers are usually born too early and have a low birth weight (less than 2.5 kilograms or 5.5 pounds), making it more likely the baby will become ill or die. [17]
Premature and low birth weight babies face an increased risk of serious health problems as newborns have chronic lifelong disabilities such as cerebral palsy (a set of motor conditions causing physical disabilities), intellectual disablities and learning problems.
#### Sudden infant death syndrome[edit]
Sudden infant death syndrome (SIDS) is the sudden death of an infant that is unexplainable by the infant's history. The death also remains unexplainable upon autopsy. Infants exposed to smoke, both during pregnancy and after birth, are found to be more at risk of SIDS due to the increased levels of nicotine often found in SIDS cases. Infants exposed to smoke during pregnancy are up to three times more likely to die of SIDS than children born to non-smoking mothers.[quantify][18]
#### Other birth defects[edit]
Birth defects associated with smoking during pregnancy[19] Defect Odds ratio
cardiovascular/heart defects 1.09
musculoskeletal defect 1.16
limb reduction defects 1.26
missing/extra digits 1.18
clubfoot 1.28
craniosynostosis 1.33
facial defects 1.19
eye defects 1.25
orofacial clefts 1.28
gastrointestinal defects 1.27
gastroschisis 1.50
anal atresia 1.20
hernia 1.40
undescended testes 1.13
hypospadias 0.90
skin defects 0.82
Smoking can also cause other birth defects, reduced birth circumference, altered brainstem development, altered lung structure, and cerebral palsy. Recently the U.S. Public Health Service reported that if all pregnant women in the United States stopped smoking, there would be an estimated 11% reduction in stillbirths and a 5% reduction in newborn deaths.[16]
#### Future obesity[edit]
A recent study has proposed that maternal smoking during pregnancy can lead to future teenage obesity. While no significant differences could be found between young teenagers with smoking mothers as compared to young teenagers with nonsmoking mothers, older teenagers with smoking mothers were found to have on average 26% more body fat and 33% more abdominal fat than similar aged teenagers with non-smoking mothers. This increase in body fat may result from the effects of smoking during pregnancy, which is thought to impact fetal genetic programming in relation to obesity. While the exact mechanism for this difference is currently unknown, studies conducted on animals have indicated that nicotine may affect brain functions that deal with eating impulses and energy metabolism. These differences appear to have a significant effect on the maintenance of a healthy, normal weight. As a result of this alteration to brain function, teenage obesity can in turn lead to a variety of health problems including diabetes (a condition in which the affected individual's blood glucose level is too high and the body is unable to regulate it), hypertension (high blood pressure), and cardiovascular disease (any affliction related to the heart but most commonly the thickening of arteries due to excess fat build-up).[20]
#### Future smoking habits[edit]
Studies indicate that smoking during pregnancy increases the likelihood of offspring beginning to smoke at an early age.[citation needed]
### Quitting during pregnancy[edit]
Quitting smoking at any point during pregnancy is more beneficial than continuing to smoke throughout the entire nine months of pregnancy, especially if it is done within the first trimester (within the first 12 weeks of pregnancy). A recent study suggests, however, that people who smoke at any time during the first trimester put their fetus at a higher risk for birth defects, particularly congenital heart defects (structural defects in the heart of an infant that can hinder blood flow) than people who have never smoked. That risk only continues to increase the longer into the pregnancy a person smokes, as well as the larger number of cigarettes she is smoking. This continued increase in risk throughout pregnancy means that it can still be beneficial for a pregnant person to quit smoking for the remainder of their gestation period.[11]
There are many resources to help pregnant people quit smoking such as counseling and drug therapies. For non-pregnant smokers, an often-recommended aid to quitting smoking is through the use of nicotine replacement therapy in the form of patches, gum, inhalers, lozenges, sprays or sublingual tablets (tablets which are placed under the tongue). However, it is important to note that the use of nicotine replacement therapies (NRTs) is questionable for pregnant people as these treatments still deliver nicotine to the child. For some pregnant smokers, NRT might still be the most beneficial and helpful solution to quit smoking. It is important that smokers talk to doctor to determine the best course of action on an individual basis.[21]
## Smoking after pregnancy[edit]
Infants exposed to smoke, both during pregnancy and after birth, are found to be more at risk of sudden infant death syndrome (SIDS).[18]
### Breastfeeding[edit]
Main article: Smoking and breastfeeding
If one does continue to smoke after giving birth, however, it is still more beneficial to breastfeed than to completely avoid this practice altogether. There is evidence that breastfeeding offers protection against many infectious diseases, especially diarrhea. Even in babies exposed to the harmful effects of nicotine through breast milk, the likelihood of acute respiratory illness is significantly diminished when compared to infants whose mothers smoked but were formula fed.[22] Regardless, the benefits of breastfeeding outweigh the risks of nicotine exposure.
### Passive smoking[edit]
Main article: Risk to children of passive smoking
Passive smoking is associated with many risks to children, including, sudden infant death syndrome (SIDS),[23][24] asthma,[25][26] lung infections,[27][28][29][30] impaired respiratory function and slowed lung growth,[8] Crohn's disease,[31] learning difficulties and neurobehavioral effects,[32][33] an increase in tooth decay,[34] and an increased risk of middle ear infections.[35][36]
## Multigenerational effect[edit]
Main article: Epigenetic effects of smoking
A grandmother who smokes during her daughter's pregnancy transmits an increased risk of asthma to her grandchildren, even if the second-generation mother does not smoke.[37] The multigenerational epigenetic effect of nicotine on lung function has already been demonstrated.[37]
## See also[edit]
* Medicine portal
* Health effects of tobacco
* Alcohol and pregnancy
## References[edit]
1. ^ Ness, Roberta B.; Grisso, Jeane Ann; Hirschinger, Nancy; Markovic, Nina; Shaw, Leslie M.; Day, Nancy L.; Kline, Jennie (1999). "Cocaine and Tobacco Use and the Risk of Spontaneous Abortion". New England Journal of Medicine. 340 (5): 333–9. doi:10.1056/NEJM199902043400501. PMID 9929522.
2. ^ Oncken, Cheryl; Kranzler, Henry; O'Malley, Paulette; Gendreau, Paula; Campbell, Winston (2002). "The effect of cigarette smoking on fetal heart rate characteristics". Obstetrics and Gynecology. 99 (5 Pt 1): 751–5. doi:10.1016/S0029-7844(02)01948-8. PMID 11978283. S2CID 38760373.
3. ^ Najdawi, F; Faouri, M (1999). "Maternal smoking and breastfeeding". Eastern Mediterranean Health Journal. 5 (3): 450–6. PMID 10793823.
4. ^ McDonough, Mike (2015). "Update on medicines for smoking cessation". Australian Prescriber. 38 (4): 106–111. doi:10.18773/austprescr.2015.038. ISSN 0312-8008. PMC 4653977. PMID 26648633.
5. ^ https://www.cdc.gov/reproductivehealth/tobaccousepregnancy[full citation needed]
6. ^ "Preventing Smoking and Exposure to Secondhand Smoke Before, During, and After Pregnancy" (PDF). Preventing Smoking and Exposure to Secondhand Smoke Before, During, and After Pregnancy. CDC, Department of Health and Human Services. Retrieved 22 September 2016.
7. ^ Eisenberg, Leon; Brown, Sarah Hart (1995). The best intentions: unintended pregnancy and the well-being of children and families. Washington, D.C: National Academy Press. pp. 68–70. ISBN 978-0-309-05230-6.
8. ^ a b Centers for Disease Control and Prevention. 2007. Preventing Smoking and Exposure to Secondhand Smoke Before, During, and After Pregnancy Archived 11 September 2011 at the Wayback Machine.
9. ^ MedlinePlus Encyclopedia: Placenta previa
10. ^ Anderka, Marlene; Romitti, Paul A.; Sun, Lixian; Druschel, Charlotte; Carmichael, Suzan; Shaw, Gary (2010). "Patterns of tobacco exposure before and during pregnancy". Acta Obstetricia et Gynecologica Scandinavica. 89 (4): 505–14. doi:10.3109/00016341003692261. PMC 6042858. PMID 20367429.
11. ^ a b Vardavas, Constantine I.; Chatzi, Leda; Patelarou, Evridiki; Plana, Estel; Sarri, Katerina; Kafatos, Anthony; Koutis, Antonis D.; Kogevinas, Manolis (2010). "Smoking and smoking cessation during early pregnancy and its effect on adverse pregnancy outcomes and fetal growth". European Journal of Pediatrics. 169 (6): 741–8. doi:10.1007/s00431-009-1107-9. PMID 19953266. S2CID 20429746.
12. ^ Zhang, Jun; Zeisler, Jonathan; Hatch, Maureen C.; Berkowitz, Gertrud (1997). "Epidemiology of Pregnancy-induced Hypertension". Epidemiologic Reviews. 19 (2): 218–32. doi:10.1093/oxfordjournals.epirev.a017954. PMID 9494784.
13. ^ Krotz, Stephan; Fajardo, Javier; Ghandi, Sanjay; Patel, Ashlesha; Keith, Louis G. (2002). "Hypertensive Disease in Twin Pregnancies: A Review". Twin Research. 5 (1): 8–14. doi:10.1375/1369052022848. PMID 11893276.
14. ^ "[Infographic] 12 Do's and Don'ts of Pregnancy". Pregnancy Savvy. Retrieved 25 August 2016.
15. ^ "Smoking During Pregnancy". Center of Disease Control and Prevention. Retrieved 19 September 2020.
16. ^ a b "2004 Surgeon General's Report" (PDF). Chapter 5 Reproductive Effects. Center for Disease Control. Retrieved 22 September 2016.
17. ^ Engebretson, Joan (2013). Materinity Nursing Care. Canada: Nelson Education, Ltd. p. 417. ISBN 978-1-111-54311-2. Archived from the original on 29 October 2016.
18. ^ a b Bajanowski, T.; Brinkmann, B.; Mitchell, E. A.; Vennemann, M. M.; Leukel, H. W.; Larsch, K.-P.; Beike, J. (2008). "Nicotine and cotinine in infants dying from sudden infant death syndrome". International Journal of Legal Medicine. 122 (1): 23–8. doi:10.1007/s00414-007-0155-9. PMID 17285322. S2CID 26325523.
19. ^ Unless else specified in table, then reference is: Hackshaw, A.; Rodeck, C.; Boniface, S. (2011). "Maternal smoking in pregnancy and birth defects: a systematic review based on 173 687 malformed cases and 11.7 million controls". Human Reproduction Update. 17 (5): 589–604. doi:10.1093/humupd/dmr022. PMC 3156888. PMID 21747128.
20. ^ "Maternal Smoking during Pregnancy and Childhood Obesity". Archived from the original on 4 November 2016. Retrieved 6 November 2016.
21. ^ March, Penny D., and Carita Caple. "Smoking Cessation and Pregnancy." Ed. Diane Pravikoff. Cinahl Information Systems (2010). Print.[page needed]
22. ^ Mennella, J. A.; Yourshaw, L. M.; Morgan, L. K. (2007). "Breastfeeding and Smoking: Short-term Effects on Infant Feeding and Sleep". Pediatrics. 120 (3): 497–502. doi:10.1542/peds.2007-0488. PMC 2277470. PMID 17766521.
23. ^ McMartin, Kristen I.; Platt, Marvin S.; Hackman, Richard; Klein, Julia; Smialek, John E.; Vigorito, Robert; Koren, Gideon (2002). "Lung tissue concentrations of nicotine in sudden infant death syndrome (SIDS)". The Journal of Pediatrics. 140 (2): 205–9. doi:10.1067/mpd.2002.121937. PMID 11865272.
24. ^ Milerad, Joseph; Vege, Åshild; Opdal, Siri H.; Rognum, Torleiv O. (1998). "Objective measurements of nicotine exposure in victims of sudden infant death syndrome and in other unexpected child deaths". The Journal of Pediatrics. 133 (2): 232–6. doi:10.1016/S0022-3476(98)70225-2. PMID 9709711.
25. ^ Surgeon General 2006, pp. 311–9 harvnb error: no target: CITEREFSurgeon_General2006 (help)
26. ^ Blaisdell, Robert J.; Broadwin, Rachel L.; Vork, Kathleen L. (2007). "Developing Asthma in Childhood from Exposure to Second-hand Tobacco Smoke — Insights from a Meta-Regression". Environmental Health Perspectives. 115 (10): 1394–400. doi:10.1289/ehp.10155. PMC 2022647. PMID 17938726.
27. ^ Spencer, N; Coe, C (2003). "Parent reported longstanding health problems in early childhood: a cohort study". Archives of Disease in Childhood. 88 (7): 570–3. doi:10.1136/adc.88.7.570. PMC 1763148. PMID 12818898.
28. ^ de Jongste JC, Shields MD (2003). "Cough . 2: Chronic cough in children". Thorax. 58 (11): 998–1003. doi:10.1136/thorax.58.11.998. PMC 1746521. PMID 14586058.
29. ^ Dybing, E.; Sanner, T. (1999). "Passive smoking, sudden infant death syndrome (SIDS) and childhood infections". Human & Experimental Toxicology. 18 (4): 202–5. doi:10.1191/096032799678839914. PMID 10333302. S2CID 21365217.
30. ^ DiFranza, Joseph R.; Aligne, C. Andrew; Weitzman, Michael (2004). "Prenatal and Postnatal Environmental Tobacco Smoke Exposure and Children's Health". Pediatrics. 113 (4 Suppl): 1007–15. doi:10.1542/peds.113.4.S1.1007 (inactive 16 January 2021). PMID 15060193.CS1 maint: DOI inactive as of January 2021 (link)
31. ^ Mahid, Suhal S.; Minor, Kyle S.; Stromberg, Arnold J.; Galandiuk, Susan (2007). "Active and Passive Smoking in Childhood Is Related to the Development of Inflammatory Bowel Disease". Inflammatory Bowel Diseases. 13 (4): 431–8. doi:10.1002/ibd.20070. PMID 17206676. S2CID 46428261.
32. ^ Richards, GA; Terblanche, AP; Theron, AJ; Opperman, L; Crowther, G; Myer, MS; Steenkamp, KJ; Smith, FC; Dowdeswell, R; van der Merwe, CA; Stevens, K; Anderson, R (1996). "Health effects of passive smoking in adolescent children". South African Medical Journal. 86 (2): 143–7. PMID 8619139.
33. ^ Scientific Consensus Statement on Environmental Agents Associated with Neurodevelopmental Disorders, The Collaborative on Health and the Environment's Learning and Developmental Disabilities Initiative, 7 November 2007
34. ^ Avşar, A.; Darka, Ö.; Topaloğlu, B.; Bek, Y. (2008). "Association of passive smoking with caries and related salivary biomarkers in young children". Archives of Oral Biology. 53 (10): 969–74. doi:10.1016/j.archoralbio.2008.05.007. PMID 18672230.
35. ^ Surgeon General 2006, pp. 293–309 harvnb error: no target: CITEREFSurgeon_General2006 (help)
36. ^ Jacoby, Peter A; Coates, Harvey L; Arumugaswamy, Ashwini; Elsbury, Dimity; Stokes, Annette; Monck, Ruth; Finucane, Janine M; Weeks, Sharon A; Lehmann, Deborah (2008). "The effect of passive smoking on the risk of otitis media in Aboriginal and non-Aboriginal children in the Kalgoorlie–Boulder region of Western Australia". The Medical Journal of Australia. 188 (10): 599–603. doi:10.5694/j.1326-5377.2008.tb01801.x. PMID 18484936. S2CID 9420655.
37. ^ a b Chatkin, José Miguel; Dullius, Cynthia Rocha (2016). "The management of asthmatic smokers". Asthma Research and Practice. 2 (1): 10. doi:10.1186/s40733-016-0025-7. ISSN 2054-7064. PMC 5142412. PMID 27965778. This article incorporates text available under the CC BY 4.0 license.
## External links[edit]
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*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
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*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
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*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
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*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
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*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
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*[GPRC6A]: G protein-coupled receptor family C group 6 member A
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*[ATP]: Adenosine triphosphate
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*[m.]: married
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*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
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*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Smoking and pregnancy
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None
| 28,283 |
wikipedia
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https://en.wikipedia.org/wiki/Smoking_and_pregnancy
| 2021-01-18T19:04:59 |
{"wikidata": ["Q1409081"]}
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## Clinical Features
Abou Jamra et al. (2011) reported a consanguineous Syrian family (MR061) with nonsyndromic mental retardation. Symptoms included severe motor delay, loss of ability to walk, atrophy and spasticity of the lower extremities, severe intellectual disability with no speech, normal or mild microcephaly, and growth retardation.
Mapping
Najmabadi et al. (2007) reported a consanguineous Iranian family (M159) in which 4 individuals had nonsyndromic mild mental retardation. Linkage analysis identified a candidate locus on chromosome 14q, termed MRT9, with a maximum lod score of 3.2. Haplotype analysis delineated a 6.2-Mb candidate region between SNPs rs1998463 and rs243286.
By homozygosity mapping of a consanguineous Syrian family with mental retardation, Abou Jamra et al. (2011) found linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951 (lod score of 3.85). Abou Jamra et al. (2011) referred to this locus as 'MRT26.'
INHERITANCE \- Autosomal recessive GROWTH Other \- Growth retardation NEUROLOGIC Central Nervous System \- Intellectual disability, severe \- Motor delay, severe \- No speech \- Walking attained, then lost \- Spasticity of lower extremities MISCELLANEOUS \- Based on a report of 1 consanguineous Syrian family (last curated November 2011) ▲ Close
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*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 9
|
c1970195
| 28,284 |
omim
|
https://www.omim.org/entry/611095
| 2019-09-22T16:03:39 |
{"doid": ["0060308"], "mesh": ["C567014"], "omim": ["611095"], "orphanet": ["88616"], "synonyms": ["Alternative titles", "NS-ARID", "AR-NSID", "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26"]}
|
Hyperacusis
Other namesHyperacousis
Art by a victim of hyperacusis
SpecialtyPsychiatry, Neurology, Otolaryngology
Differential diagnosisSensory processing disorder
Frequency1 in 50,000
Hyperacusis is a highly debilitating and relatively uncommon hearing disorder[1] characterized by an increased sensitivity to certain frequencies and volume ranges of sound (a collapsed tolerance to usual environmental sound). A person with severe hyperacusis has great difficulty tolerating many everyday sounds, which are perceived by the person as uncomfortably loud and sometimes physically painful.[2][3] The prevalence of hyperacusis is 1 in 50,000 people.[4]
Hyperacusis is often coincident with tinnitus. However, tinnitus is more common[5] and there are important differences between their involved mechanisms. [1]
## Contents
* 1 Signs and symptoms
* 1.1 Associated conditions
* 2 Causes
* 3 Neurophysiological mechanisms
* 4 Diagnosis
* 5 Treatment
* 6 Notable cases
* 7 See also
* 8 External links
* 8.1 Information Websites
* 8.2 Non-profit Organizations
* 9 References
* 10 Further reading
## Signs and symptoms[edit]
In hyperacusis, the symptoms are ear pain, annoyance, distortions, and general intolerance to many sounds that most people are unaffected by. Crying spells or panic attacks may result from the experience of hyperacusis. It may affect either or both ears.[6] Hyperacusis can also be accompanied by tinnitus. Hyperacusis can result in anxiety, stress and phonophobia. Avoidant behavior is often a response to prevent the effects of hyperacusis and this can include avoiding social situations.
The University of Iowa proposed four sub-categories of the condition:[7]
* pain: sufferers experience discomfort or pain in reaction to certain sounds, usually those that are loud or high in frequency. Pain can be felt in the form of stabbing, burning, coolness, or pain that radiates down the neck.
* loudness: sounds are perceived as louder than their actual decibel level.
* annoyance: certain sounds are irritating.
* fear: sufferers begin avoiding everyday sounds out of fear of triggering symptoms, often isolating themselves at home.
### Associated conditions[edit]
Some conditions that are associated with hyperacusis[8] include:
* Acoustic shock
* Adverse drug reaction
* Anxiety
* Asperger's Syndrome
* Attention Deficit Hyperactivity Disorder[9]
* Autism spectrum
* Bell's palsy[10]
* Depression
* Endolymphatic hydrops[11]
* Hypothyroidism
* Lyme disease[8]
* Migraine[8]
* Ménière's disease
* Multiple sclerosis[12]
* Noise-induced hearing loss
* Posttraumatic stress disorder[8]
* Severe head trauma[8][13]
* Superior canal dehiscence syndrome (SCDS)
* Systemic lupus erythematosus (SLE)[14]
* Tay–Sachs disease[15]
* Tonic tensor tympani syndrome
* Visual snow
* Williams syndrome[8][16]
## Causes[edit]
The most common cause of hyperacusis is overexposure to excessively high decibel (sound pressure) levels.[2]
Some sufferers acquire hyperacusis suddenly as a result of taking ear sensitizing drugs, Lyme disease, Ménière's disease, head injury, or surgery. Others are born with sound sensitivity, develop superior canal dehiscence syndrome, have had a history of ear infections, or come from a family that has had hearing problems.[citation needed] Bell's palsy can trigger hyperacusis if the associated flaccid paralysis affects the tensor tympani, and stapedius, two small muscles of the middle ear.[10] Paralysis of the stapedius muscle prevents its function in dampening the oscillations of the ossicles, causing sound to be abnormally loud on the affected side.[17]
Some psychoactive drugs such as LSD, methaqualone, or phencyclidine (angel-dust) can cause hyperacusis.[18] An antibiotic, ciprofloxacin, has also been seen to be a cause, known as ciprofloxacin-related hyperacusis.[19]
## Neurophysiological mechanisms[edit]
See also: Sensory processing disorder
As one important mechanism, adaptation processes in the auditory brain that influence the dynamic range of neural responses are assumed to be distorted by irregular input from the inner ear. This is mainly caused by hearing loss related damage in the inner ear.[20] The mechanism behind hyperacusis is not currently known, but it is suspected to be caused by damage to the inner ear and cochlea. It is theorized that type II afferent fibers become excited after damage to hair cells and synapses, triggering a release of ATP in response.[21] This release of ATP results in pain, sound sensitivity, and cochlear inflammation.
## Diagnosis[edit]
Loudness discomfort levels (LDLs): group data of hyperacusis patients without hearing loss. Upper line: average hearing thresholds. Lower long line: LDLs of this group. Lower short line: LDLs of a reference group with normal hearing.[22]
The basic diagnostic test is similar to a normal audiogram. The difference is that additionally to the hearing threshold at each test frequency also the lowest uncomfortable sound level is measured. This level is called loudness discomfort level (LDL), uncomfortable listening level (UCL), or uncomfortable loudness level (ULL). In patients with hyperacusis this level is considerably lower than in normal subjects, and usually across most parts of the auditory spectrum.[2][22]
## Treatment[edit]
One possible treatment for hyperacusis is retraining therapy which uses broadband noise. Tinnitus retraining therapy, a treatment originally used to treat tinnitus, uses broadband noise to treat hyperacusis. Pink noise can also be used to treat hyperacusis. By listening to broadband noise at soft levels for a disciplined period of time each day, patients can rebuild (i.e., re-establish) their tolerances to sound. Although patients might not always make a complete recovery, the use of broadband noise usually gives some of them a significant improvement in their symptoms, especially if this is combined with counseling.[23][24][3][25]
Another possible treatment is cognitive behavioral therapy (CBT), which may also be combined with retraining therapy.[8][26]
## Notable cases[edit]
* Musician Jason DiEmilio of Azusa Plane had hyperacusis and ultimately went on to commit suicide. His story was told in BuzzFeed.[27]
* Musician Stephin Merritt has monaural hyperacusis in his left ear, which influences the instrumentation of his band, The Magnetic Fields, leads him to wear earplugs during performances and to cover his affected ear during audience applause.[citation needed]
* Musician Laura Ballance of Superchunk has hyperacusis and no longer tours with the band.[citation needed]
* American politician, activist, and film producer Michael Huffington has mild hyperacusis and underwent sound therapy after finding that running tap water caused ear pain.[28]
* Russian communist revolutionary, politician, and political theorist Vladimir Lenin was reported seriously ill by the latter half of 1921, having hyperacusis and symptoms such as regular headache and insomnia.[29]
* Musician Chris Singleton had hyperacusis, but made a full recovery.[30] His story was told in The Independent.[31]
* Musician Peter Silberman of The Antlers had hyperacusis and tinnitus which put his musical career on hold, but was quoted saying it died down to a 'manageable level'[32] He has now resumed his musical career.
* Voice actor Liam O'Brien has hyperacusis, and is quoted as having lost sleep during the time of diagnosis.[33]
## See also[edit]
* Auditory system
* Hearing
* Misophonia
* Otoacoustic emission
* Photophobia
* Tinnitus
* Tinnitus masker
## External links[edit]
### Information Websites[edit]
A 2020 study by the NIHR Nottingham Biomedical Research Centre analyzed the content and quality of information of fifteen popular hyperacusis websites using the validated DISCERN questionnaire.[34] The website Hyperacusis Focus achieved the highest overall DISCERN score. The reviewers found that Hyperacusis Focus and U.K. National Health Service websites were the most comprehensive online resources for health care professionals and patients, respectively. Wikipedia was judged useful for both health care professionals and patients.
Content and Quality of Hyperacusis Information Websites[35] Website DISCERN Score
Hyperacusis Focus 4.13
Action on Hearing Loss 3.41
American Speech-Language-Hearing Association 3.28
Dizziness & Balance 3.19
National Health Service 3.00
Wikipedia 2.69
British Tinnitus Association 2.34
WebMD 2.34
Hyperacusis.net 2.22
### Non-profit Organizations[edit]
Hyperacusis Research Limited is a 501(c)(3) non-profit charity dedicated to the development of effective treatments for hyperacusis and to funding research which will eliminate the underlying mechanisms that cause hyperacusis.
Hearing Health Foundation is a non-profit with a mission to prevent and cure hearing loss and tinnitus through groundbreaking research and to promote hearing health.
## References[edit]
1. ^ a b Knipper M, Van Dijk P, Nunes I, Rüttiger L, Zimmermann U (December 2013). "Advances in the neurobiology of hearing disorders: recent developments regarding the basis of tinnitus and hyperacusis". Progress in Neurobiology. 111: 17–33. doi:10.1016/j.pneurobio.2013.08.002. PMID 24012803.
2. ^ a b c Tyler RS, Pienkowski M, Roncancio ER, Jun HJ, Brozoski T, Dauman N, Dauman N, Andersson G, Keiner AJ, Cacace AT, Martin N, Moore BC (December 2014). "A review of hyperacusis and future directions: part I. Definitions and manifestations" (PDF). American Journal of Audiology. 23 (4): 402–19. doi:10.1044/2014_AJA-14-0010. PMID 25104073.
3. ^ a b Pienkowski M, Tyler RS, Roncancio ER, Jun HJ, Brozoski T, Dauman N, Coelho CB, Andersson G, Keiner AJ, Cacace AT, Martin N, Moore BC (December 2014). "A review of hyperacusis and future directions: part II. Measurement, mechanisms, and treatment" (PDF). American Journal of Audiology. 23 (4): 420–36. doi:10.1044/2014_AJA-13-0037. PMID 25478787. S2CID 449625.
4. ^ "What Is Sound Sensitivity (Hyperacusis)?". WebMD. WebMD. Retrieved 7 July 2020.
5. ^ "Hyperacusis". British Tinnitus Association. Retrieved 9 June 2020.
6. ^ "Hyperacusis: An Increased Sensitivity to Everyday Sounds". American Academy of Otolaryngology–Head and Neck Surgery. 21 April 2014.
7. ^ "What is Hyperacusis". Hyperacusis Research. Retrieved 2020-09-27.
8. ^ a b c d e f g Baguley DM (December 2003). "Hyperacusis". Journal of the Royal Society of Medicine. 96 (12): 582–5. doi:10.1177/014107680309601203. PMC 539655. PMID 14645606.
9. ^ Ralli, Massimo; Romani, Maria; Zodda, Alessio; Russo, Francesca Yoshie; Altissimi, Giancarlo; Orlando, Maria Patrizia; Cammeresi, Maria Gloria; Penge, Roberta; Turchetta, Rosaria (27 April 2020). "Hyperacusis in Children with Attention Deficit Hyperactivity Disorder: A Preliminary Study". International Journal of Environmental Research and Public Health. 17 (9): 3045. doi:10.3390/ijerph17093045. PMC 7246428. PMID 32349379.
10. ^ a b Purves, Dale (2012). Neuroscience (5th ed.). Sunderland, Mass. p. 283. ISBN 9780878936953.
11. ^ Møller A (2011). Textbook of tinnitus. Totowa, N.J. London: Humana Springer distributor. p. 457. ISBN 978-1-60761-145-5.
12. ^ Baguley D (2007). Hyperacusis : mechanisms, diagnosis, and therapies. San Diego, CA: Plural Publishing Inc. p. 59. ISBN 978-1-59756-808-1.
13. ^ Granacher R (2008). Traumatic brain injury: methods for clinical and forensic neuropsychiatric assessment. Boca Raton, Fla. London: CRC Taylor & Francis distributor. p. 181. ISBN 978-0-8493-8139-3.
14. ^ Maciaszczyk K, Durko T, Waszczykowska E, Erkiert-Polguj A, Pajor A (February 2011). "Auditory function in patients with systemic lupus erythematosus" (PDF). Auris, Nasus, Larynx. 38 (1): 26–32. doi:10.1016/j.anl.2010.04.008. PMID 20576373.
15. ^ Desnick R (2001). Tay–Sachs disease. San Diego, Calif. London: Academic. p. 25. ISBN 978-0-08-049030-4.
16. ^ Zarchi O, Attias J, Gothelf D (2010). "Auditory and visual processing in Williams syndrome". The Israel Journal of Psychiatry and Related Sciences. 47 (2): 125–31. PMID 20733255.
17. ^ Carpenter, Malcolm B. (1985). Core text of neuroanatomy (3rd ed.). Baltimore: Williams & Wilkins. p. 151. ISBN 0683014552.
18. ^ Barceloux D (2012). Medical Toxicology of Drug Abuse : Synthesized Chemicals and Psychoactive Plants. Hoboken, N.J: John Wiley & Sons. pp. 457, 507, and 616. ISBN 978-1-118-10605-1.
19. ^ "Ciprofloxacin Related Hyperacusis, From FDA reports". 2017.
20. ^ Brotherton H, Plack CJ, Maslin M, Schaette R, Munro KJ (2015). "Pump up the volume: could excessive neural gain explain tinnitus and hyperacusis?". Audiology & Neuro-Otology. 20 (4): 273–82. doi:10.1159/000430459. PMID 26139435. S2CID 32159259.
21. ^ Liu, Chang; Glowatzki, Elisabeth; Fuchs, Paul Albert (2015-11-24). "Unmyelinated type II afferent neurons report cochlear damage". Proceedings of the National Academy of Sciences of the United States of America. 112 (47): 14723–14727. doi:10.1073/pnas.1515228112. ISSN 0027-8424. PMC 4664349. PMID 26553995.
22. ^ a b Sheldrake J, Diehl PU, Schaette R (2015). "Audiometric characteristics of hyperacusis patients". Frontiers in Neurology. 6: 105. doi:10.3389/fneur.2015.00105. PMC 4432660. PMID 26029161.
23. ^ Lindsey, Heather (August 2014). "Help for Hyperacusis: Treatments Turn Down Discomfort". The Hearing Journal. 67 (8): 22. doi:10.1097/01.HJ.0000453391.20357.f7. ISSN 0745-7472.
24. ^ Formby C, Hawley ML, Sherlock LP, Gold S, Payne J, Brooks R, Parton JM, Juneau R, Desporte EJ, Siegle GR (May 2015). "A Sound Therapy-Based Intervention to Expand the Auditory Dynamic Range for Loudness among Persons with Sensorineural Hearing Losses: A Randomized Placebo-Controlled Clinical Trial". Seminars in Hearing. 36 (2): 77–110. doi:10.1055/s-0035-1546958. PMC 4906300. PMID 27516711.
25. ^ Marc Fagelson, David M. Baguley (2018). Hyperacusis and Disorders of Sound Intolerance Clinical and Research Perspectives. Plural Publishing. pp. C15, C16. ISBN 978-1-94488-328-7.
26. ^ Aazh H, Moore BC, Lammaing K, Cropley M (September 2016). "Tinnitus and hyperacusis therapy in a UK National Health Service audiology department: Patients' evaluations of the effectiveness of treatments". International Journal of Audiology. 55 (9): 514–22. doi:10.1080/14992027.2016.1178400. PMC 4950421. PMID 27195947.
27. ^ "When Everyday Sound Becomes Torture".
28. ^ "Rejoining Society". June 2015.
29. ^ Shub 1966, p. 426; Rice 1990, p. 187; Service 2000, p. 435.
30. ^ "FAQs about Hyperacusis". Chris Singleton. Retrieved 2018-03-29.
31. ^ "I was allergic to sound". The Independent. 2010-06-01. Retrieved 2018-03-27.
32. ^ "How Peter Silberman Lost His Hearing, Then Rediscovered Sound". pastemagazine.com. Retrieved 2018-03-27.
33. ^ "'Between the Sheets: Liam O'Brien'". Critical Role. Retrieved 2018-10-10.
34. ^ Smith Sandra N.; Smallwood Ethan; Sereda Magdalena; Adams Bethany; Hoare Derek J. (2020-09-18). "The Content and Quality of Information About Hyperacusis Presented Online". American Journal of Audiology. 29 (3S): 623–630. doi:10.1044/2020_AJA-19-00074.
35. ^ Smith, Sandra N; Smallwood, Ethan; Sereda, Magdalena; Adams, Bethany; Hoare, Derek J. (2020-09-18). "Information about hyperacusis presented online (Smith et al. 2020)". figshare. doi:10.23641/asha.12869717.
## Further reading[edit]
* Andersson, David M. Baguley, Gerhard (2007). Hyperacusis : mechanisms, diagnosis, and therapies. San Diego: Plural Pub. ISBN 978-1597561044.
* "Decreased Sound Tolerance", by Pawel J. Jastreboff and Margaret J Jastreboff, in: "Tinnitus: theory and management", ed. James Byron Snow, 2004, ISBN 1-55009-243-X
Classification
D
* ICD-10: H93.2
* ICD-10-CM: H93.23
* ICD-9-CM: 388.42
* MeSH: D01200178
* DiseasesDB: 29099
* v
* t
* e
Diseases of the outer and middle ear
Outer ear
* Otitis externa
* Otomycosis
Middle ear
and mastoid
* Otitis media
* Mastoiditis
* Bezold's abscess
* Gradenigo's syndrome
* Tympanosclerosis
* Cholesteatoma
* Perforated eardrum
Symptoms
* Ear pain
* Hearing loss
Tests
* Otoscope
* pneumatic
* tympanometry
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Hyperacusis
|
c0751466
| 28,285 |
wikipedia
|
https://en.wikipedia.org/wiki/Hyperacusis
| 2021-01-18T19:00:14 |
{"gard": ["9655"], "mesh": ["D012001"], "umls": ["C0751466"], "icd-9": ["388.42"], "icd-10": ["H93.2"], "wikidata": ["Q1421356"]}
|
Umbrella term used when children are significantly delayed in their cognitive and physical development
Global developmental delay is an umbrella term used when children are significantly delayed in their cognitive and physical development. It can be diagnosed when a child is delayed in one or more milestones, categorised into motor skills, speech, cognitive skills, and social and emotional development.[1] There is usually a specific condition which causes this delay, such as Fragile X syndrome or other chromosomal abnormalities. However, it is sometimes difficult to identify this underlying condition.[2]
Other terms associated with this condition are failure to thrive (which focuses on lack of weight gain and physical development), intellectual disability (which focuses on intellectual deficits and the changes they cause to development) and developmental disability (which can refer to both intellectual and physical disability altering development).
## Contents
* 1 Causes
* 2 Investigation
* 3 Management
* 4 References
## Causes[edit]
Developmental delay can be caused by learning disabilities, in which case the delay can usually be overcome with time and support - such as with physiotherapists, occupational therapists, and speech and language therapists.[3] Other causes which may cause a permanent delay in development include genetic disorders such as Down syndrome and Fragile X, childhood infections such as meningitis or encephalitis, and metabolic disorders such as hypothyroidism. Metabolic disorders are more likely to cause delayed development in older children as many congenital metabolic problems which are easily managed are screened for in the neonatal period. The use of toxic substances in pregnancy, particularly alcohol, can lead to developmental delay if they affect the neurological development of the fetus, such as in fetal alcohol syndrome. Even though there are many known causes of delay, some children will never receive a diagnosis.[4]
## Investigation[edit]
Developmental monitoring is performed during wellness visits to check a child's development.[5] Health authorities encourage parents to monitor their child's development, the CDC's program "Learn the Signs. Act Early"[6] provides materials for a child's development is assesed based on expected milestones for actions like how they play, learn, speak, act and move.[7] Missed milestones may be cause for concern, so the doctor or another specialist may call for a more thorough test or exam to take a closer look, this is usually done by going through Developmental Screening.
Developmental Screening is a more involved process. The evaluating professional will ask a parent to complete a research-based questionnaire that asks about a child’s development, including language, movement, thinking, behavior, and emotions. Developmental Screening is recommended by the American Academy of Pediatrics (AAP) to all children at 9, 18, and 30 months. The AAP also recommends that all children be screened specifically for autism spectrum disorder (ASD) during regular well-child visits at 18 and 24 months.[5][8] If a Developmental Screening indicates a delay, the child should then be assessed with a Developmental Evaluation.
Developmental Evaluations are performed by a Developmental pediatrician, child psychologist, or other trained provider with the purpose of Identifying and diagnosing developmental delays and conditions.[5]
* Chromosome microarray and karyotyping to look for trisomy, microdeletions, and duplications. It is the most sensitive diagnostic test available and is used first line in all cases, but can miss balanced translocations and low-level mosaicism.
* Specific gene testing is available for certain disorders such as Rett syndrome, although these are expensive tests which aren't widely available
* Selective metabolic investigations may be useful in the absence of other identifiable causes, and the specific tests done will depend on the presentation. Inborn errors of metabolism causing metabolic disorders are rare and there are limited treatment options even if they are successfully diagnosed.
* Targeted MRI brain can be considered second line in selected patients, and is more likely to contribute to a diagnosis if the child has abnormal physical signs such as microcephaly, macrocephaly, a change in head circumference, focal neurological signs, or epilepsy.
Neonatal screening is used in the UK (Guthrie test) and can diagnose certain inborn errors of metabolism before they cause significant developmental problems, with the aim to manage them so that no permanent damage occurs.
* Medium-chain acyl-CoA dehydrogenase deficiency
* Homocysteinuria
* Congenital hypothyroidism
* Isovaleric acidaemia
* Glutaricaciduria type 1
* Maple syrup urine disease
Canada, the USA, and the Netherlands offer more extensive newborn screening, encompassing some other amino acid, organic, and urea cycle disorders[9]
## Management[edit]
The specific management of children with global developmental delay will depend on their individual needs and underlying diagnosis. Early intervention is essential to support the child to reach their full potential. Specialists involved in the management of GDD in children include[10]
* Speech therapists
* Physical therapists
* Occupational therapists
* Hearing specialists (Audiologist)
* Developmental paediatricians
* Neurologists
* Providers of Early Intervention Services (depending on location)
As well as involving professionals, parents can support the development of their child by playing with them, reading with them, showing them how to do tasks, and supporting them to participate in activities of daily living such as washing, dressing, and eating.[11]
## References[edit]
1. ^ "Global development delay". Mencap. Retrieved 2018-11-25.
2. ^ Srour, Myriam; Mazer, Barbara; Shevell, Michael I (2006). "Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global Developmental Delay". Pediatrics. 118 (1): 139–145. doi:10.1542/peds.2005-2702. PMID 16818559.
3. ^ "Global Developmental Delay | Contact". contact.org.uk. Retrieved 2018-11-25.
4. ^ "Global Developmental Delay | Contact". contact.org.uk. Retrieved 2018-11-25.
5. ^ a b c CDC (2020-06-25). "Developmental Monitoring and Screening | CDC". Centers for Disease Control and Prevention. Retrieved 2020-10-23. This article incorporates text from this source, which is in the public domain.
6. ^ CDC (2020-05-14). ""Learn the Signs. Act Early." has FREE child development tools". Centers for Disease Control and Prevention. Retrieved 2020-10-23.
7. ^ CDC (2020-06-10). "What is a Developmental Milestone?". Centers for Disease Control and Prevention. Retrieved 2020-10-23.
8. ^ "Early Childhood Development". AAP.org. Retrieved 2020-10-23.
9. ^ Mithyantha, Renuka; Kneen, Rachel; McCann, Emma; Gladstone, Melissa (2017-11-01). "Current evidence-based recommendations on investigating children with global developmental delay". Archives of Disease in Childhood. 102 (11): 1071–1076. doi:10.1136/archdischild-2016-311271. ISSN 0003-9888. PMC 5738593. PMID 29054862.
10. ^ "Developmental Delay in Children Management and Treatment | Cleveland Clinic". Cleveland Clinic. Retrieved 2018-11-25.
11. ^ "Developmental Delay | Therapies For Kids". www.therapiesforkids.com.au. Retrieved 2018-11-25.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Global developmental delay
|
c0557874
| 28,286 |
wikipedia
|
https://en.wikipedia.org/wiki/Global_developmental_delay
| 2021-01-18T18:56:01 |
{"umls": ["C0557874"], "icd-10": ["F88"], "wikidata": ["Q25312637"]}
|
Microcephaly-capillary malformation syndrome is an inherited disorder characterized by an abnormally small head size (microcephaly) and abnormalities of small blood vessels in the skin called capillaries (capillary malformations).
In people with microcephaly-capillary malformation syndrome, microcephaly begins before birth and is associated with an unusually small brain and multiple brain abnormalities. Affected individuals develop seizures that can occur many times per day and are difficult to treat (intractable epilepsy). The problems with brain development and epilepsy lead to profound developmental delay and intellectual impairment. Most affected individuals do not develop skills beyond those of a 1- or 2-month-old infant. For example, most children with this condition are never able to control their head movements or sit unassisted.
Capillary malformations are composed of enlarged capillaries that increase blood flow near the surface of the skin. These malformations look like pink or red spots on the skin. People with microcephaly-capillary malformation syndrome are born with anywhere from a few to hundreds of these spots, which can occur anywhere on the body. The spots are usually round or oval-shaped and range in size from the head of a pin to a large coin.
Other signs and symptoms of microcephaly-capillary malformation syndrome include abnormal movements, feeding difficulties, slow growth, and short stature. Most affected individuals have abnormalities of the fingers and toes, including digits with tapered ends and abnormally small or missing fingernails and toenails. Some affected children also have distinctive facial features and an unusual pattern of hair growth on the scalp.
## Frequency
Microcephaly-capillary malformation syndrome is rare. About a dozen people have been diagnosed with the disorder.
## Causes
Microcephaly-capillary malformation syndrome results from mutations in the STAMBP gene. This gene provides instructions for making a protein called STAM binding protein. This protein plays a role in sorting damaged or unneeded proteins so they can be transported from the cell surface to specialized cell compartments that break down (degrade) or recycle them. This process helps to maintain the proper balance of protein production and breakdown (protein homeostasis) that cells need to function and survive. Studies suggest that STAM binding protein is also involved in multiple chemical signaling pathways within cells, including pathways needed for overall growth and the formation of new blood vessels (angiogenesis).
Mutations in the STAMBP gene reduce or eliminate the production of STAM binding protein. This shortage allows damaged or unneeded proteins to build up inside cells instead of being degraded or recycled, which may damage cells and cause them to self-destruct (undergo apoptosis). Researchers suspect that abnormal apoptosis of brain cells starting before birth may cause microcephaly and the underlying brain abnormalities found in people with microcephaly-capillary malformation syndrome. A lack of STAM binding protein also alters multiple signaling pathways that are necessary for normal development, which may underlie the capillary malformations and other signs and symptoms of the condition.
### Learn more about the gene associated with Microcephaly-capillary malformation syndrome
* STAMBP
## Inheritance Pattern
This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition.
At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Microcephaly-capillary malformation syndrome
|
c3280296
| 28,287 |
medlineplus
|
https://medlineplus.gov/genetics/condition/microcephaly-capillary-malformation-syndrome/
| 2021-01-27T08:24:39 |
{"omim": ["614261"], "synonyms": []}
|
Plasmacytoma is a localized mass of neoplastic monoclonal plasma cells that represents approximately 5% of all plasma cell neoplasms. There are two separate entities: primary plasmacytoma of the bone and extramedullary plasmacytoma of the soft tissues. Of the extramedullary plasmacytomas, 80% occur in the head and neck, usually in the upper respiratory tract. The median age at diagnosis is 50 years and the male to female ratio is 3:1. Long-term survival is possible following local radiotherapy, particularly for soft tissue presentations.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Plasmacytoma
|
c0032131
| 28,288 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86855
| 2021-01-23T17:06:53 |
{"mesh": ["D010954"], "umls": ["C0032131"], "icd-10": ["C90.2", "C90.3"], "synonyms": ["Solitary plasmacytoma"]}
|
A number sign (#) is used with this entry because of evidence that retinitis pigmentosa-68 (RP68) is caused by homozygous or compound heterozygous mutation in the SLC7A14 gene (615720) on chromosome 3q26.
For a general phenotypic description and a discussion of genetic heterogeneity of retinitis pigmentosa (RP), see 268000.
Clinical Features
Jin et al. (2014) studied a Chinese man, born of first-cousin parents, who in childhood developed night blindness and a visual field defect. Visual acuity in both eyes progressively decreased to hand motion only by 35 years of age. Fundus photography and optical coherence tomography (OCT) revealed typical intraretinal bone-spicule pigmentation, large spots of retinal atrophy, and overall thinning of the outer retinal layer. Electroretinogram (ERG) responses were extinguished. There were no other affected family members. The severely affected structure and function of the retina supported the clinical diagnosis of retinitis pigmentosa (RP).
Molecular Genetics
In a 35-year-old Chinese man with RP from a consanguineous family, Jin et al. (2014) screened 144 genes known to be related to RP but found no pathologic mutations. Whole-exome sequencing followed by homozygosity analysis identified a homozygous missense variant in the SLC7A14 gene (G330R; 615720.0001) that was confirmed by Sanger sequencing and segregated with disease in the family. Screening of 247 unrelated patients with autosomal recessive RP identified 4 more individuals with homozygous or compound heterozygous mutations in SLC7A14 (615720.0002-615720.0004); these patients were comprehensively screened by targeted exome sequencing of known RP-related genes, and no additional mutations were detected. In 12 of the probands, a single heterozygous variant in SLC7A14 was found; 3 of the probands were also found to carry a mutation in a known RP-related gene. The authors did not believe the disease in these 12 patients was caused by the SLC7A14 variant. Overall, the frequency of SLC7A14 mutations in Chinese autosomal recessive RP patients was 2% (5 of 248 cases).
Animal Model
Jin et al. (2014) developed a zebrafish model of slc7a14 knockdown and observed an aberrant light-induced locomotor response, strongly suggesting that SLC7A14 has an important role in photoreceptor development and function and that its dysfunction can lead to visual impairment. Jin et al. (2014) also generated Slc7a14-deficient mice, which had abnormal responses on ERG at ages 2 months and 6 months; OCT showed a trend toward reduced thickness of the outer retina in 2.5-month-old knockout mice, and histology confirmed a slightly thinner retinal layer. Jin et al. (2014) concluded that ablation of Slc7a14 protein in mice results in retinal degeneration that recapitulates the disease phenotype in autosomal recessive RP patients with SLC7A14 mutations.
INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Night blindness \- Visual field defect \- Intraretinal bone spicule pigmentation \- Retinal atrophy \- Thinning of outer retinal layer on optical coherence tomography \- Extinguished responses on electroretinography MISCELLANEOUS \- Onset of symptoms within the first 2 decades of life MOLECULAR BASIS \- Caused by mutation in the solute carrier family 7, member 14 gene (SLC7A14, 615720.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
RETINITIS PIGMENTOSA 68
|
c0035334
| 28,289 |
omim
|
https://www.omim.org/entry/615725
| 2019-09-22T15:51:06 |
{"doid": ["0110374"], "mesh": ["D012174"], "omim": ["615725"], "orphanet": ["791"]}
|
3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
3MC syndrome
|
c0796032
| 28,290 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=293843
| 2021-01-23T19:09:32 |
{"mesh": ["C535704"], "omim": ["248340", "257920", "265050"], "icd-10": ["Q87.8"], "synonyms": ["Craniofacial-ulnar-renal syndrome", "Malpuech-Michels-Mingarelli-Carnevale syndrome"]}
|
Chemical pneumonitis or aspiration pneumonitis caused by aspiration during anaesthesia
Mendelson's syndrome
SpecialtyRespirology
Mendelson's syndrome is chemical pneumonitis or aspiration pneumonitis caused by aspiration during anaesthesia, especially during pregnancy. Aspiration contents may include gastric juice, blood, bile, water or an association of them.[1]
## Contents
* 1 Presentation
* 2 Risk factors
* 3 Eponym
* 4 References
* 5 External links
## Presentation[edit]
Mendelson's syndrome is characterised by a bronchopulmonary reaction following aspiration of gastric contents during general anaesthesia due to abolition of the laryngeal reflexes. The main clinical features are signs of general hypoxia, two to five hours after anaesthesia. Such features may include cyanosis, dyspnea, fever, pulmonary wheeze, crepitant rales, rhonchi, and tachycardia with a low blood pressure. Decreased arterial oxygen tension is also likely to be evident. Pulmonary edema can cause sudden death or death may occur later from pulmonary complications.[citation needed]
## Risk factors[edit]
Historically it is said that a patient is at risk if they have:[2]
* Residual gastric volume of greater than 25ml, with
* pH of less than 2.5
However these are indirect measurements and are not factors that directly influence aspiration risk.[2]
Patients with a high risk should have a rapid sequence induction. High risk is defined as these factors:[2]
1. Non-elective surgical procedure
2. Light anaesthesia/unexpected response to stimulation
3. Acute or chronic, upper or lower GI pathology
4. Obesity
5. Opioid medication
6. Neurological disease, impaired conscious level, or sedation
7. Lithotomy position
8. Difficult intubation/airway
9. Gastrointestinal reflux
10. Hiatal hernia
## Eponym[edit]
It is named for Curtis Mendelson.[3][4]
## References[edit]
1. ^ Г.А.Рябов, СИНДРОМЫ КРИТИЧЕСКИХ СОСТОЯНИЙ. Аспирационный пневмонит (синдром Мендельсона), http://surgerycom.net/critical/4/4_3.html
2. ^ a b c Levy, DM (2006). "Pre-operative fasting—60 years on from Mendelson". Continuing Education in Anaesthesia, Critical Care & Pain. 6 (6): 215–218. doi:10.1093/bjaceaccp/mkl048.
3. ^ Enersen, OD. "Whonamedit – Mendelson's syndrome". Whonamedit? A dictionary of medical eponyms. Retrieved 2011-04-22.
4. ^ Mendelson, CL (1946). "The aspiration of stomach contents into the lungs during obstetric anesthesia". American Journal of Obstetrics and Gynecology. 52 (2): 191–205. doi:10.1016/S0002-9378(16)39829-5. PMID 20993766.
## External links[edit]
Classification
D
* ICD-10: J95.4
* ICD-9-CM: 668.0, 997.3
* DiseasesDB: 979
* synd/2330 at Who Named It?
* v
* t
* e
Diseases of the respiratory system
Upper RT
(including URTIs,
common cold)
Head
sinuses
Sinusitis
nose
Rhinitis
Vasomotor rhinitis
Atrophic rhinitis
Hay fever
Nasal polyp
Rhinorrhea
nasal septum
Nasal septum deviation
Nasal septum perforation
Nasal septal hematoma
tonsil
Tonsillitis
Adenoid hypertrophy
Peritonsillar abscess
Neck
pharynx
Pharyngitis
Strep throat
Laryngopharyngeal reflux (LPR)
Retropharyngeal abscess
larynx
Croup
Laryngomalacia
Laryngeal cyst
Laryngitis
Laryngopharyngeal reflux (LPR)
Laryngospasm
vocal cords
Laryngopharyngeal reflux (LPR)
Vocal fold nodule
Vocal fold paresis
Vocal cord dysfunction
epiglottis
Epiglottitis
trachea
Tracheitis
Laryngotracheal stenosis
Lower RT/lung disease
(including LRTIs)
Bronchial/
obstructive
acute
Acute bronchitis
chronic
COPD
Chronic bronchitis
Acute exacerbation of COPD)
Asthma (Status asthmaticus
Aspirin-induced
Exercise-induced
Bronchiectasis
Cystic fibrosis
unspecified
Bronchitis
Bronchiolitis
Bronchiolitis obliterans
Diffuse panbronchiolitis
Interstitial/
restrictive
(fibrosis)
External agents/
occupational
lung disease
Pneumoconiosis
Aluminosis
Asbestosis
Baritosis
Bauxite fibrosis
Berylliosis
Caplan's syndrome
Chalicosis
Coalworker's pneumoconiosis
Siderosis
Silicosis
Talcosis
Byssinosis
Hypersensitivity pneumonitis
Bagassosis
Bird fancier's lung
Farmer's lung
Lycoperdonosis
Other
* ARDS
* Combined pulmonary fibrosis and emphysema
* Pulmonary edema
* Löffler's syndrome/Eosinophilic pneumonia
* Respiratory hypersensitivity
* Allergic bronchopulmonary aspergillosis
* Hamman-Rich syndrome
* Idiopathic pulmonary fibrosis
* Sarcoidosis
* Vaping-associated pulmonary injury
Obstructive / Restrictive
Pneumonia/
pneumonitis
By pathogen
* Viral
* Bacterial
* Pneumococcal
* Klebsiella
* Atypical bacterial
* Mycoplasma
* Legionnaires' disease
* Chlamydiae
* Fungal
* Pneumocystis
* Parasitic
* noninfectious
* Chemical/Mendelson's syndrome
* Aspiration/Lipid
By vector/route
* Community-acquired
* Healthcare-associated
* Hospital-acquired
By distribution
* Broncho-
* Lobar
IIP
* UIP
* DIP
* BOOP-COP
* NSIP
* RB
Other
* Atelectasis
* circulatory
* Pulmonary hypertension
* Pulmonary embolism
* Lung abscess
Pleural cavity/
mediastinum
Pleural disease
* Pleuritis/pleurisy
* Pneumothorax/Hemopneumothorax
Pleural effusion
Hemothorax
Hydrothorax
Chylothorax
Empyema/pyothorax
Malignant
Fibrothorax
Mediastinal disease
* Mediastinitis
* Mediastinal emphysema
Other/general
* Respiratory failure
* Influenza
* Common cold
* SARS
* Coronavirus disease 2019
* Idiopathic pulmonary haemosiderosis
* Pulmonary alveolar proteinosis
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Mendelson's syndrome
|
c0032290
| 28,291 |
wikipedia
|
https://en.wikipedia.org/wiki/Mendelson%27s_syndrome
| 2021-01-18T19:05:34 |
{"mesh": ["D011015"], "umls": ["C0032290"], "icd-9": ["668.0", "997.3"], "wikidata": ["Q2979344"]}
|
Fuchs endothelial dystrophy is a condition that causes vision problems. The first symptom of this condition is typically blurred vision in the morning that usually clears during the day. Over time, affected individuals lose the ability to see details (visual acuity). People with Fuchs endothelial dystrophy also become sensitive to bright lights.
Fuchs endothelial dystrophy specifically affects the front surface of the eye called the cornea. Deposits called guttae, which are detectable during an eye exam, form in the middle of the cornea and eventually spread throughout the cornea. These guttae contribute to the ongoing cell death within the cornea, leading to worsening vision problems. Tiny blisters may develop on the cornea, which can burst and cause eye pain.
The signs and symptoms of Fuchs endothelial dystrophy usually begin in a person's forties or fifties. A very rare early-onset variant of this condition starts to affect vision in a person's twenties.
## Frequency
The late-onset form of Fuchs endothelial dystrophy is a common condition, affecting approximately 4 percent of people over the age of 40 in the United States. The early-onset variant of Fuchs endothelial dystrophy is rare, although the exact prevalence is unknown.
For reasons that are unclear, Fuchs endothelial dystrophy affects women two to four times more frequently than men.
## Causes
The genetics of Fuchs endothelial dystrophy are unclear. Researchers have identified several genes and regions within a few chromosomes that they think may play a role in the development of Fuchs endothelial dystrophy. However, many of these genetic associations have been found in only a few affected individuals or families and it is unclear what role they have in the development of the condition.
Fuchs endothelial dystrophy affects a thin layer of cells that line the back of the cornea, called corneal endothelial cells. These cells regulate the amount of fluid inside the cornea. An appropriate fluid balance in the cornea is necessary for clear vision. Fuchs endothelial dystrophy occurs when the endothelial cells die and the cornea becomes swollen with too much fluid. Corneal endothelial cells continue to die over time, resulting in worsening vision problems. It is thought that mutations in genes that are active (expressed) primarily in corneal endothelial cells or surrounding tissue contribute to the death of corneal endothelial cells, resulting in Fuchs endothelial dystrophy.
Some cases of the early-onset variant of Fuchs endothelial dystrophy are caused by mutations in a gene called COL8A2. This gene provides instructions for making a protein that is part of type VIII collagen. Type VIII collagen is largely found within the cornea, surrounding the endothelial cells. Specifically, type VIII collagen is a major component of a tissue at the back of the cornea, called Descemet's membrane. This membrane is a thin, sheet-like structure that separates and supports corneal endothelial cells. COL8A2 gene mutations that cause the early-onset variant of Fuchs endothelial dystrophy lead to an abnormal Descemet's membrane, which causes corneal endothelial cells to die and leads to the vision problems in people with this condition.
Mutations in additional, unidentified genes are also thought to be involved in the development of both the early-onset variant of Fuchs endothelial dystrophy and the later onset form of the disorder.
### Learn more about the genes associated with Fuchs endothelial dystrophy
* COL8A2
* TCF4
Additional Information from NCBI Gene:
* AGBL1
* ATP1B1
* KANK4
* LAMC1
* SLC4A11
* ZEB1
## Inheritance Pattern
In many cases, the inheritance pattern of Fuchs endothelial dystrophy is unknown.
In some families, Fuchs endothelial dystrophy appears to be inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. When this condition is caused by a mutation in the COL8A2 gene, it is inherited in an autosomal dominant pattern. In addition, an autosomal dominant inheritance pattern is apparent in some situations in which the condition is caused by alterations in an unknown gene.
Some cases result from new mutations in a gene and occur in people with no history of the disorder in their family.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Fuchs endothelial dystrophy
|
c1850959
| 28,292 |
medlineplus
|
https://medlineplus.gov/genetics/condition/fuchs-endothelial-dystrophy/
| 2021-01-27T08:24:43 |
{"gard": ["10018"], "mesh": ["C535478"], "omim": ["136800", "610158", "613267", "613268", "613269", "613270", "613271", "615523"], "synonyms": []}
|
Klatskin tumors are are a type of cholangiocarcinoma that begins in an area called the hilum, where the left and right bile ducts join and leave the liver. It is the most common type of cholangiocarcinoma, accounting for more than half of all cases. Symptoms usually don't present until advanced stages of disease, when jaundice is the most common feature. Other symptoms include abdominal pain, unintentional weight loss, and a general feeling of being unwell (malaise).
The cause of Klatskin tumors is unknown. Studies suggest that a combination of genetic, environmental, and lifestyle factors (multifactorial) likely influence whether a person will develop cholangiocarcinoma. Because Klatskin tumors are often discovered after they have spread, they can be challenging to treat. Surgical removal of the tumor and relief of bile duct blockage are the main goals of treatment.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Klatskin tumor
|
c0206702
| 28,293 |
gard
|
https://rarediseases.info.nih.gov/diseases/10175/klatskin-tumor
| 2021-01-18T17:59:35 |
{"mesh": ["D018285"], "umls": ["C0206702"], "orphanet": ["99978"], "synonyms": ["Klatskin's tumor", "Perihilar cholangiocarcinoma"]}
|
A number sign (#) is used with this entry because nemaline myopathy-9 (NEM9) is caused by homozygous or compound heterozygous mutation in the KLHL41 gene (607701) on chromosome 2q31.
Description
Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).
For a discussion of genetic heterogeneity of nemaline myopathy, see 161800.
Clinical Features
Gupta et al. (2013) reported 5 unrelated children with nemaline myopathy and variable severity. Two infants presented at birth in breech presentation and with severe fetal akinesia, consistent with onset of muscle weakness in utero; they showed poor or no antigravity movements and died at ages 1 day and 3 months. Other features in these 2 patients included arthrogryposis, dislocation of hips and knees, micrognathia, and narrow chest. The other 3 patients had more intermediate forms of the disorder: 2 were ambulant at age 5 and 12 years, respectively, whereas the third was wheelchair-bound and on artificial ventilation at age 16 years. Additional features, present in 1 patient each, included high-arched palate, scoliosis, and ventricular septal defect. Two had distal contractures. Muscle biopsy of all patients showed sarcoplasmic rods in multiple myofibers, consistent with nemaline myopathy.
Inheritance
The transmission pattern of nemaline myopathy-9 in the families reported by Gupta et al. (2013) was consistent with autosomal recessive inheritance.
Molecular Genetics
In 5 unrelated children with nemaline myopathy-9, Gupta et al. (2013) identified homozygous or compound heterozygous mutations in the KLHL41 gene (see, e.g., 607701.0001-607701.0005). The mutations in 4 patients were found by homozygosity mapping combined with whole-exome sequencing; the fifth patient was identified from a cohort of 116 patients who underwent Sanger sequencing of the KLHL41 gene. There was a clear genotype-phenotype correlation, with truncating mutations resulting in severe phenotypes with neonatal death, and missense changes resulting in impaired motor function with survival into late childhood and/or early adulthood. Immunoblotting of patient skeletal muscle showed decreased levels of KLHL41 compared to wildtype. Functional studies in zebrafish showed that loss of klhl41 resulted in highly diminished motor function and myofibrillar disorganization with nemaline body formation.
INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Micrognathia (in some patients) Mouth \- High-arched palate (in some patients) \- Cleft palate (in some patients) RESPIRATORY \- Respiratory insufficiency (in some patients) CHEST External Features \- Narrow chest (in some patients) SKELETAL \- Fetal akinesia sequence (in some patients) \- Arthrogryposis (in some patients) Spine \- Scoliosis (in some patients) Limbs \- Distal contractures MUSCLE, SOFT TISSUES \- Muscle weakness \- Loss of ambulation (in some patients) \- Muscle biopsy shows sarcoplasmic rods in myofibers NEUROLOGIC Central Nervous System \- Delayed motor development PRENATAL MANIFESTATIONS Delivery \- Breech presentation (in some patients) MISCELLANEOUS \- Onset at birth or in utero \- Highly variable severity \- Static or slowly progressive \- Some more severely affected patients may die in infancy MOLECULAR BASIS \- Caused by mutation in the kelch-like 41 gene (KLHL41, 607701.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
NEMALINE MYOPATHY 9
|
c0546125
| 28,294 |
omim
|
https://www.omim.org/entry/615731
| 2019-09-22T15:51:05 |
{"doid": ["0110929"], "mesh": ["D017696"], "omim": ["615731"], "orphanet": ["171439", "171430", "171436", "171433"], "genereviews": ["NBK1288"]}
|
Inferior left ventricle wall scar, short axis echocardiography view
Myocardial scarring is the accumulation of fibrosis tissue resulting after some form of trauma to the cardiac tissue.[1][2] Fibrosis is the formation of excess tissue in replacement of necrotic or extensively damaged tissue. Fibrosis in the heart is often hard to detect because fibromas are often formed.[3] Fibromas are scar tissue or small tumors, formed in one cell line.[3] Because they are so small they can be hard to detect by methods such as magnetic resonance imaging.[1] A cell line is a path of fibrosis that follow only a line of cells.
## Contents
* 1 Causes of Myocardial scarring
* 1.1 Myocardial Infarction
* 1.2 Coronary Heart Disease
* 1.3 Birth Defect Repairs
* 2 How Myocardial Scarring Forms
* 3 References
## Causes of Myocardial scarring[edit]
### Myocardial Infarction[edit]
A myocardial infarction, also known as a heart attack often result in the formation of fibrosis.[2] A myocardial infraction is an ischemic event. An Ischemic event is defined as the restriction of blood flow to the body tissue.[4] Without blood flow to the myocardium, it is deprived of oxygen, causing tissue death and irreversible damage.[5] The damage caused by the myocardial infarction the later replaced by non- functioning fibrosis.[6]
### Coronary Heart Disease[edit]
Coronary heart disease, also known as coronary artery disease, is one of the most common causes of myocardial damage, affecting over three million people in the United States.[7] In Coronary heart disease the coronary arteries narrow due to the buildup of atheroma or fatty deposits on the vessel walls. The atheroma causes the blood flow of the arteries to be restricted.[6] By restricting the blood flow, the tissue is still receiving some oxygen, but not enough to sustain the tissue over time.[5] The accumulation of the fibrotic tissue is much slower in coronary heart disease compared to an infarction because the tissue is still receiving some oxygen.[6]
### Birth Defect Repairs[edit]
Another form of myocardial scarring results from surgical repairs.[2] Surgical repairs are often necessary for a person born with a congenital defect of the heart.[8] While surgical laparoscopy still leaves myocardial scarring, the trauma seems to be less damaging then naturally occurring scarring.[2]
## How Myocardial Scarring Forms[edit]
Immediately after damage to the myocardium occurs the damaged tissue becomes inflamed. Inflammation is the accumulations of neutrophils, macrophages, and lymphocytes at the site of the trauma.[9][10] In addition, “inflammatory cells upregulate the release of a myriad of signaling cytokines, growth factors, and hormones including transforming growth factor β, interleukins 1, 2, 6, and 10, tumor necrosis factor α, interferon γ, chemokines of the CC and CXC families, angiotensin II, norepinephrine, endothelin, natriuretic peptides, and platelet-derived growth factors”.[10] Both the necrotic cells and the inflamed myocardium secrete and activate matrix metalloproteinase. Metalloproteinase aids in the destruction and reabsorption of necrotic tissue. After several days, collagen accumulation at the site of injury begins to occur.[10] As part of the extra cellular matrix, granulated tissue consisting of fibrin, fibronectin, laminin, glycosaminoglycan is suspended in a collagen base.[10] The extracellular matrix acts as scaffolding for the fibrillar collagen to form. The fibrillar collagen is the main constitute of what will become the scar tissue.[10]
## References[edit]
1. ^ a b Guler, Gamze Babur (2011). "Myocardial Fibrosis Detected by Cardiac Magnetic Resonance Imaging in Heart Failure: Impact on Remodeling, Diastolic Function and BNP Levels". Anatolian Journal of Cardiology. 11 (1): 71–76. doi:10.5152/akd.2011.013. PMID 21220243.
2. ^ a b c d Fomovsky, Gregory M. (2010). "Evolution of Scar Structure, Mechanics, and Ventricular Function after Myocardial Infarction in the Rat". American Journal of Physiology. Heart & Circulatory Physiology. 298 (1): 1–12. doi:10.1152/ajpheart.00495.2009. PMC 2806135. PMID 19897714.
3. ^ a b "FIBROMA". Merriam-Webster. Retrieved 2020-03-23.
4. ^ Katz, Monica Y. "Three-Dimensional Myocardial Scarring along Myofibers after Coronary Ischemia-Reperfusion Revealed by Computerized Images of Histological Assays". Physiological Reports. 2: 1–3.
5. ^ a b "ISCHEMIA". Merriam-Webster. Retrieved 2020-03-23.
6. ^ a b c Liang, Cuiping (2019). "Influence of the Distribution of Fibrosis within an Area of Myocardial Infarction on Wave Propagation in Ventricular Tissue". Scientific Reports. 15: 1–24. Bibcode:2019NatSR...914151L. doi:10.1038/s41598-019-50478-5. S2CID 203626142.
7. ^ "CORONARY HEART DISEASE". Merriam-Webster. Retrieved 2020-03-23.
8. ^ CDC (2019-11-22). "What are Congenital Heart Defects? | CDC". Centers for Disease Control and Prevention. Retrieved 2020-03-23.
9. ^ Radauceanu, Anca (2007). "Residual Stress Ischemia Is Associated with Blood Markers of Myocardial Structural Remodeling". European Journal of Heart Failure. 9 (4): 370–376. doi:10.1016/j.ejheart.2006.09.010. PMID 17140850. S2CID 2118209.
10. ^ a b c d e Richardson, William J.; Clarke, Samantha A.; Quinn, T. Alexander; Holmes, Jeffrey W. (2015-09-20). "Physiological Implications of Myocardial Scar Structure". Comprehensive Physiology. 5 (4): 1877–1909. doi:10.1002/cphy.c140067. ISSN 2040-4603. PMC 4727398. PMID 26426470.
*
* v
* t
* e
Cardiovascular disease (heart)
Ischaemic
Coronary disease
* Coronary artery disease (CAD)
* Coronary artery aneurysm
* Spontaneous coronary artery dissection (SCAD)
* Coronary thrombosis
* Coronary vasospasm
* Myocardial bridge
Active ischemia
* Angina pectoris
* Prinzmetal's angina
* Stable angina
* Acute coronary syndrome
* Myocardial infarction
* Unstable angina
Sequelae
* hours
* Hibernating myocardium
* Myocardial stunning
* days
* Myocardial rupture
* weeks
* Aneurysm of heart / Ventricular aneurysm
* Dressler syndrome
Layers
Pericardium
* Pericarditis
* Acute
* Chronic / Constrictive
* Pericardial effusion
* Cardiac tamponade
* Hemopericardium
Myocardium
* Myocarditis
* Chagas disease
* Cardiomyopathy
* Dilated
* Alcoholic
* Hypertrophic
* Tachycardia-induced
* Restrictive
* Loeffler endocarditis
* Cardiac amyloidosis
* Endocardial fibroelastosis
* Arrhythmogenic right ventricular dysplasia
Endocardium /
valves
Endocarditis
* infective endocarditis
* Subacute bacterial endocarditis
* non-infective endocarditis
* Libman–Sacks endocarditis
* Nonbacterial thrombotic endocarditis
Valves
* mitral
* regurgitation
* prolapse
* stenosis
* aortic
* stenosis
* insufficiency
* tricuspid
* stenosis
* insufficiency
* pulmonary
* stenosis
* insufficiency
Conduction /
arrhythmia
Bradycardia
* Sinus bradycardia
* Sick sinus syndrome
* Heart block: Sinoatrial
* AV
* 1°
* 2°
* 3°
* Intraventricular
* Bundle branch block
* Right
* Left
* Left anterior fascicle
* Left posterior fascicle
* Bifascicular
* Trifascicular
* Adams–Stokes syndrome
Tachycardia
(paroxysmal and sinus)
Supraventricular
* Atrial
* Multifocal
* Junctional
* AV nodal reentrant
* Junctional ectopic
Ventricular
* Accelerated idioventricular rhythm
* Catecholaminergic polymorphic
* Torsades de pointes
Premature contraction
* Atrial
* Junctional
* Ventricular
Pre-excitation syndrome
* Lown–Ganong–Levine
* Wolff–Parkinson–White
Flutter / fibrillation
* Atrial flutter
* Ventricular flutter
* Atrial fibrillation
* Familial
* Ventricular fibrillation
Pacemaker
* Ectopic pacemaker / Ectopic beat
* Multifocal atrial tachycardia
* Pacemaker syndrome
* Parasystole
* Wandering atrial pacemaker
Long QT syndrome
* Andersen–Tawil
* Jervell and Lange-Nielsen
* Romano–Ward
Cardiac arrest
* Sudden cardiac death
* Asystole
* Pulseless electrical activity
* Sinoatrial arrest
Other / ungrouped
* hexaxial reference system
* Right axis deviation
* Left axis deviation
* QT
* Short QT syndrome
* T
* T wave alternans
* ST
* Osborn wave
* ST elevation
* ST depression
* Strain pattern
Cardiomegaly
* Ventricular hypertrophy
* Left
* Right / Cor pulmonale
* Atrial enlargement
* Left
* Right
* Athletic heart syndrome
Other
* Cardiac fibrosis
* Heart failure
* Diastolic heart failure
* Cardiac asthma
* Rheumatic fever
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Myocardial scarring
|
c1404481
| 28,295 |
wikipedia
|
https://en.wikipedia.org/wiki/Myocardial_scarring
| 2021-01-18T18:53:45 |
{"umls": ["CL508563"], "wikidata": ["Q16917948"]}
|
## Clinical Features
Uitti and Maraganore (1993) reported a large family of German origin in which 5 individuals, including a pair of monozygotic twin brothers, had adult-onset cervical dystonia, typically during the fourth and fifth decades of life. Physical examination showed variable limitation of the neck, torticollis, and hypertrophy of the sternocleidomastoid muscles. Four patients had head tremor, and 3 had limb tremor. Five additional family members were diagnosed with possible cervical dystonia.
Groen et al. (2011) reported a 3-generation Dutch family in which 5 individuals had a movement disorder characterized by dystonia and myoclonus. The age at symptom onset ranged widely from 4 to 62 years. Symptoms included writer's cramp, dysphonia, torticollis, and foot dystonia. Two patients had generalized myoclonus, whereas the other 3 had myoclonus localized to the voice, face, trunk, or limbs. Three patients had action-induced myoclonus of the lower limbs, and 3 patients reported that the myoclonus responded to alcohol. Patients also showed high-frequency continuous myoclonus in the legs while standing, resulting in unsteadiness. Other more variable features included panic attacks and hyperventilation syndrome. Brain imaging was normal in 2 patients; 1 patient had mild cerebral and cerebellar atrophy. Electrophysiologic studies performed in 3 patients showed semirhythmic or irregular bursts, suggestive of a subcortical origin with possible cerebellar involvement. Groen et al. (2015) noted that 3 patients reported by Groen et al. (2015) had cardiac arrhythmias and attacks of painful limb cramps.
Inheritance
The transmission patterns in the family with cervical dystonia reported by Uitti and Maraganore (1993) and in the family with myoclonus-dystonia reported by Groen et al. (2011) were both consistent with autosomal dominant inheritance.
Mapping
In the family with cervical dystonia reported by Uitti and Maraganore (1993), Jarman et al. (1999) excluded linkage to the DYT7 locus (602124) on chromosome 18p, suggesting further genetic heterogeneity of the phenotype.
By linkage analysis in the family reported by Uitti and Maraganore (1993), Xiao et al. (2012) found strongest linkage to markers D9S159 and D9S1818 at 9q34 (maximum lod, 2.71).
Molecular Genetics
### Associations Pending Confirmation
For discussion of a possible association between dystonia and mutation in the CACNA1B gene, see 601012.0001.
For discussion of a possible association between dystonia and mutation in the CIZ1 gene, see 611420.0001.
INHERITANCE \- Autosomal dominant HEAD & NECK Head \- Head tremor (variable) Face \- Facial dystonia Neck \- Cervical dystonia \- Torticollis \- Hypertrophy of the sternocleidomastoid muscle CARDIOVASCULAR Heart \- Arrhythmias (in some patients) SKELETAL Limbs \- Cramping of the limbs Hands \- Writer's cramp Feet \- Dystonic foot posturing NEUROLOGIC Central Nervous System \- Cervical dystonia \- Axial dystonia \- Limb dystonia \- Myoclonus \- Action-induced dystonia and myoclonus \- Gait difficulties \- Lower limb myoclonus upon standing \- Cortical atrophy (1 patient) \- Cerebellar atrophy (1 patient) Behavioral Psychiatric Manifestations \- Panic attacks (in some patients) \- Hyperventilation syndrome (in some patients) VOICE \- Dysphonia MISCELLANEOUS \- Variable age at onset \- Progressive disorder \- Myoclonus occurs at rest and with action \- One family with a CACNA1B mutation has been reported (last curated March 2015) MOLECULAR BASIS \- Caused by mutation in the voltage-dependent calcium channel, N type, alpha-1B subunit gene (CACNA1B, 601012.0001 ) ▲ Close
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
DYSTONIA 23
|
c3538999
| 28,296 |
omim
|
https://www.omim.org/entry/614860
| 2019-09-22T15:53:58 |
{"doid": ["0090051"], "omim": ["614860"], "orphanet": ["420492"], "synonyms": ["DYT23", "Dystonia 23"]}
|
3-Phosphoglycerate dehydrogenase deficiency (3-PGDH deficiency) is an autosomal recessive form of serine deficiency syndrome (see this term) characterized clinically in the few reported cases by congenital microcephaly, psychomotor retardation and intractable seizures in the infantile form and by absence seizures, moderate developmental delay and behavioral disorders in the juvenile form
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
|
c0580190
| 28,297 |
orphanet
|
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79351
| 2021-01-23T19:09:22 |
{"omim": ["601815"], "umls": ["C0580190"], "icd-10": ["E72.8"], "synonyms": ["PHGDH deficiency, infantile/juvenile form"]}
|
McSwigan et al. (1981) suggested that chromosome 21 may carry genetic information involved in regulation of the beta-adrenergic response of human fibroblasts. They based this conclusion on the finding of a 10-fold greater response to beta-adrenergic agonists (as monitored by intracellular cyclic AMP accumulation) in cultured fibroblasts from Down syndrome patients than that in either normal diploid skin fibroblasts or other aneusomic fibroblasts (trisomy 13, 18, 22). No peculiarity of response was observed with prostaglandin E1 or cholera toxin. Monosomy 21 cells responded less than normal diploid fibroblasts to stimulation by the beta-adrenergic agonist isoproterenol.
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
BETA-ADRENERGIC STIMULATION, RESPONSE TO
|
c1862288
| 28,298 |
omim
|
https://www.omim.org/entry/109670
| 2019-09-22T16:44:27 |
{"omim": ["109670"]}
|
Scrub typhus
Other namesBush typhus
Orientia tsutsugamushi
SpecialtyInfectious disease
Scrub typhus or bush typhus is a form of typhus caused by the intracellular parasite Orientia tsutsugamushi, a Gram-negative α-proteobacterium of family Rickettsiaceae first isolated and identified in 1930 in Japan.[1][2]
Although the disease is similar in presentation to other forms of typhus, its pathogen is no longer included in genus Rickettsia with the typhus bacteria proper, but in Orientia. The disease is thus frequently classified separately from the other typhi.
## Contents
* 1 Signs and symptoms
* 2 Causes
* 3 Diagnosis
* 4 Treatment
* 5 Vaccine
* 6 History
* 7 See also
* 8 References
* 9 External links
## Signs and symptoms[edit]
Signs and symptoms include fever, headache, muscle pain, cough, and gastrointestinal symptoms. More virulent strains of O. tsutsugamushi can cause hemorrhaging and intravascular coagulation. Morbilliform rash, eschar, splenomegaly, and lymphadenopathies are typical signs. Leukopenia and abnormal liver function tests are commonly seen in the early phase of the illness. Pneumonitis, encephalitis, and myocarditis occur in the late phase of illness. It has particularly been shown to be the most common cause of acute encephalitis syndrome in Bihar, India.[3]
## Causes[edit]
Scrub typhus is transmitted by some species of trombiculid mites ("chiggers", particularly Leptotrombidium deliense),[4] which are found in areas of heavy scrub vegetation. The mites feed on infected rodent hosts and subsequently transmit the parasite to other rodents and humans. The bite of this mite leaves a characteristic black eschar that is useful to the doctor for making the diagnosis.
Scrub typhus is endemic to a part of the world known as the tsutsugamushi triangle (after O. tsutsugamushi).[2] This extends from northern Japan and far-eastern Russia in the north, to the territories around the Solomon Sea into northern Australia in the south, and to Pakistan and Afghanistan in the west.[5] It may also be endemic in parts of South America.[6]
The precise incidence of the disease is unknown, as diagnostic facilities are not available in much of its large native range, which spans vast regions of equatorial jungle to the subtropics. In rural Thailand and Laos, murine and scrub typhus account for around a quarter of all adults presenting to hospital with fever and negative blood cultures.[7][8] The incidence in Japan has fallen over the past few decades, probably due to land development driving decreasing exposure, and many prefectures report fewer than 50 cases per year.[9][10]
It affects females more than males in Korea, but not in Japan,[11] which may be because sex-differentiated cultural roles have women tending garden plots more often, thus being exposed to vegetation inhabited by chiggers. The incidence is increasing in the southern part of the Indian subcontinent and in northern areas around Darjeeling.[citation needed]
## Diagnosis[edit]
In endemic areas, diagnosis is generally made on clinical grounds alone. However, overshadowing of the diagnosis is quite often as the clinical symptoms overlap with other infectious diseases such as dengue fever, paratyphoid, and pyrexia of unknown origin (PUO). If the eschar can be identified, it is quite diagnostic of scrub typhus, but this can be unreliable on dark skin, and moreover, the site of eschar which is usually where the mite bites is often located in covered areas. Unless it is actively searched for, the eschar can easily be missed. History of mite bite is often absent since the bite does not inflict pain and the mites are almost too small to be seen by the naked eye. Usually, scrub typhus is often labelled as PUO in remote endemic areas, since blood culture is often negative, yet it can be treated effectively with chloramphenicol. Where doubt exists, the diagnosis may be confirmed by a laboratory test such as serology. Again, this is often unavailable in most endemic areas, since the serological test involved is not included in the routine screening tests for PUO, especially in Burma (Myanmar).[citation needed]
The choice of laboratory test is not straightforward, and all currently available tests have their limitations.[12] The cheapest and most easily available serological test is the Weil-Felix test, but this is notoriously unreliable.[13] The gold standard is indirect immunofluorescence,[14] but the main limitation of this method is the availability of fluorescent microscopes, which are not often available in resource-poor settings where scrub typhus is endemic. Indirect immunoperoxidase, a modification of the standard IFA method, can be used with a light microscope,[15] and the results of these tests are comparable to those from IFA.[13][16] Rapid bedside kits have been described that produce a result within one hour, but the availability of these tests is severely limited by their cost.[13] Serological methods are most reliable when a four-fold rise in antibody titre is found. If the patient is from a nonendemic area, then diagnosis can be made from a single acute serum sample.[17] In patients from endemic areas, this is not possible because antibodies may be found in up to 18% of healthy individuals.[18]
Other methods include culture and polymerase chain reaction, but these are not routinely available[19] and the results do not always correlate with serological testing,[20][21][22] and are affected by prior antibiotic treatment.[23] The currently available diagnostic methods have been summarised.[12]
## Treatment[edit]
Without treatment, the disease is often fatal. Since the use of antibiotics, case fatalities have decreased from 4–40% to less than 2%.
The drug most commonly used is doxycycline or tetracycline, but chloramphenicol is an alternative. Strains that are resistant to doxycycline and chloramphenicol have been reported in northern Thailand.[24][25] Rifampicin[26] and azithromycin[27] are alternatives. Azithromycin is an alternative in children[28] and pregnant women with scrub typhus,[29][30][31] and when doxycycline resistance is suspected.[32] Ciprofloxacin cannot be used safely in pregnancy and is associated with stillbirths and miscarriage.[31][33] Combination therapy with doxycycline and rifampicin is not recommended due to possible antagonism.[34]
## Vaccine[edit]
No licensed vaccines are available.[35]
An early attempt to create a scrub typhus vaccine occurred in the United Kingdom in 1937 (with the Wellcome Foundation infecting around 300,000 cotton rats in a classified project called "Operation Tyburn"), but the vaccine was not used.[36] The first known batch of scrub typhus vaccine actually used to inoculate human subjects was dispatched to India for use by Allied Land Forces, South-East Asia Command in June 1945. By December 1945, 268,000 cc had been dispatched.[37] The vaccine was produced at Wellcome's laboratory at Ely Grange, Frant, Sussex. An attempt to verify the efficacy of the vaccine by using a placebo group for comparison was vetoed by the military commanders, who objected to the experiment.[38]
Enormous antigenic variation in Orientia tsutsugamushi strains is now recognized,[39][40] and immunity to one strain does not confer immunity to another. Any scrub typhus vaccine should give protection to all the strains present locally, to give an acceptable level of protection. A vaccine developed for one locality may not be protective in another, because of antigenic variation. This complexity continues to hamper efforts to produce a viable vaccine.[41]
## History[edit]
An Australian soldier, Private George "Dick" Whittington, is aided by Papuan orderly Raphael Oimbari, near Buna on 25 December 1942. Whittington died in February 1943 from the effects of bush typhus. (Picture by Life photographer George Silk)
Severe epidemics of the disease occurred among troops in Burma and Ceylon during World War II.[42] Several members of the U.S. Army's 5307th Composite Unit (Merrill's Marauders) died of the disease, and before 1944, no effective antibiotics or vaccines were available.[43][44]
World War II provides some indicators that the disease is endemic to undeveloped areas in all of Oceania in the Pacific theater, although war records frequently lack definitive diagnoses, and many records of "high fever" evacuations were also likely to be other tropical illnesses. In the chapter entitled "The Green War", General MacArthur's biographer William Manchester identifies that the disease was one of a number of debilitating afflictions affecting both sides on New Guinea[45] in the running bloody Kokoda battles over extremely harsh terrains under intense hardships— fought during a six-month span[46] all along the Kokoda Track in 1942–43, and mentions that to be hospital-evacuated, Allied soldiers (who cycled forces) had to run a fever of 102 °F (39 °C), and that sickness casualties outnumbered weapons-inflicted casualties 5:1.[45] Similarly, the illness was a casualty producer in all the jungle fighting of the land battles of the New Guinea campaign and the Guadalcanal campaign. Where the Allies had bases, they could remove and cut back vegetation, or use DDT as a prophylaxis area barrier treatment, so mite- and tick-induced sickness rates in forces off the front lines were diminished.
The disease was also a problem for US troops stationed in Japan after WWII, and was variously known as "Shichitō fever" (by troops stationed in the Izu Seven Islands) or "Hatsuka fever" (Chiba prefecture).[47]
Scrub typhus was first reported in Chile in 2006.[48] This is likely the result of underdiagnosis and underreporting and not of a recent spread to Chile.[48] In January 2020 the disease was for the first time reported in Chile's southernmost region.[48]
## See also[edit]
* List of mites associated with cutaneous reactions
## References[edit]
1. ^ Tseng BY, Yang HH, Liou JH, Chen LK, Hsu YH (February 2008). "Immunohistochemical study of scrub typhus: a report of two cases". Kaohsiung J. Med. Sci. 24 (2): 92–8. doi:10.1016/S1607-551X(08)70103-7. PMID 18281226.
2. ^ a b Pediatric Scrub Typhus, accessdate: 16 October 2011
3. ^ Jain P; Prakash S; Tripathi PK; et al. (2018). "Emergence of Orientia tsutsugamushi as an important cause of acute encephalitis syndrome in India". PLOS Negl Trop Dis. 12 (3): e0006346. doi:10.1371/journal.pntd.0006346. PMC 5891077. PMID 29590177.
4. ^ Pham XD, Otsuka Y, Suzuki H, Takaoka H (2001). "Detection of Orientia tsutsugamushi (Rickettsiales: Rickettsiaceae) in unengorged chiggers (Acari: Trombiculidae) from Oita Prefecture, Japan, by nested polymerase chain reaction". J Med Entomol. 38 (2): 308–311. doi:10.1603/0022-2585-38.2.308. PMID 11296840.
5. ^ Seong SY, Choi MS, Kim IS (January 2001). "Orientia tsutsugamushi infection: overview and immune responses". Microbes Infect. 3 (1): 11–21. doi:10.1016/S1286-4579(00)01352-6. PMID 11226850.
6. ^ Deadly scrub typhus bacteria confirmed in South America. ScienMag (September 8, 2016)
7. ^ Phongmany S, Rolain JM, Phetsouvanh R, et al. (February 2006). "Rickettsial infections and fever, Vientiane, Laos". Emerging Infect. Dis. 12 (2): 256–62. doi:10.3201/eid1202.050900. PMC 3373100. PMID 16494751.
8. ^ Suttinont C, Losuwanaluk K, Niwatayakul K, et al. (June 2006). "Causes of acute, undifferentiated, febrile illness in rural Thailand: results of a prospective observational study". Ann Trop Med Parasitol. 100 (4): 363–70. doi:10.1179/136485906X112158. PMID 16762116.
9. ^ Katayama T, Hara M, Furuya Y, Nikkawa T, Ogasawara H (June 2006). "Scrub typhus (tsutsugamushi disease) in Kanagawa Prefecture in 2001–2005". Jpn J Infect Dis. 59 (3): 207–8. PMID 16785710. Archived from the original on 2010-05-25.
10. ^ Yamamoto S, Ganmyo H, Iwakiri A, Suzuki S (December 2006). "Annual incidence of tsutsugamushi disease in Miyazaki prefecture, Japan in 2001-2005". Jpn J Infect Dis. 59 (6): 404–5. PMID 17186964. Archived from the original on 2009-08-15.
11. ^ Bang HA, Lee MJ, Lee WC (2008). "Comparative research on epidemiological aspects of tsutsugamushi disease (scrub typhus) between Korea and Japan". Jpn J Infect Dis. 61 (2): 148–50. PMID 18362409. Archived from the original on 2008-09-27.
12. ^ a b Koh GC, Maude RJ, Paris DH, Newton PN, Blacksell SD (March 2010). "Diagnosis of scrub typhus". Am. J. Trop. Med. Hyg. 82 (3): 368–70. doi:10.4269/ajtmh.2010.09-0233. PMC 2829893. PMID 20207857.
13. ^ a b c Pradutkanchana J, Silpapojakul K, Paxton H, et al. (1997). "Comparative evaluation of four serodiagnostic tests for scrub typhus in Thailand". Trans R Soc Trop Med Hyg. 91 (4): 425–8. doi:10.1016/S0035-9203(97)90266-2. PMID 9373640.
14. ^ Bozeman FM & Elisberg BL (1963). "Serological diagnosis of scrub typhus by indirect immunofluorescence". Proc Soc Exp Biol Med. 112 (3): 568–73. doi:10.3181/00379727-112-28107. PMID 14014756.CS1 maint: multiple names: authors list (link)
15. ^ Yamamoto S & Minamishima Y (1982). "Serodiagnosis of tsutsugamushi fever (scrub typhus) by the indirect immunoperoxidase technique". J Clin Microbiol. 15 (6): 1128–l. doi:10.1128/JCM.15.6.1128-1132.1982. PMC 272264. PMID 6809786.CS1 maint: multiple names: authors list (link)
16. ^ Kelly DJ, Wong PW, Gan E, Lewis GE Jr (1988). "Comparative evaluation of the indirect immunoperoxidase test for the serodiagnosis of rickettsial disease". Am J Trop Med Hyg. 38 (2): 400–6. doi:10.4269/ajtmh.1988.38.400. PMID 3128129.
17. ^ Blacksell SD, Bryant NJ, Paris, DH, et al. (2007). "Scrub typhus serologic testing with the indirect immunofluorescence method as a diagnostic gold standard: a lack of consensus leads to a lot of confusion". Clin Infect Dis. 44 (3): 391–401. doi:10.1086/510585. PMID 17205447.
18. ^ Eamsila C, Singsawat P, Duangvaraporn A, et al. (1996). "Antibodies to Orientia tsutsugamushi in Thai soldiers". Am J Trop Med Hyg. 55 (5): 556–9. doi:10.4269/ajtmh.1996.55.556. PMID 8940989.
19. ^ Watt G, Parola P (2003). "Scrub typhus and tropical rickettsioses". Curr Opin Infect Dis. 16 (5): 429–436. doi:10.1097/00001432-200310000-00009. PMID 14501995.
20. ^ Tay ST, Nazma S, Rohani MY (1996). "Diagnosis of scrub typhus in Malaysian aborigines using nested polymerase chain reaction". Southeast Asian J Trop Med Public Health. 27 (3): 580–3. PMID 9185274.
21. ^ Kim, DM; Yun, NR; Yang, TY; Lee, JH; Yang, JT; Shim, SK; Choi, EN; Park, MY; Lee, SH (2006). "Usefulness of nested PCR for the diagnosis of scrub typhus in clinical practice: A prospective study". Am J Trop Med Hyg. 75 (3): 542–545. doi:10.4269/ajtmh.2006.75.542. PMID 16968938.
22. ^ Sonthayanon P, Chierakul W, Wuthiekanun V, et al. (December 2006). "Rapid diagnosis of scrub typhus in rural Thailand using polymerase chain reaction". Am. J. Trop. Med. Hyg. 75 (6): 1099–102. doi:10.4269/ajtmh.2006.75.1099. PMID 17172374.
23. ^ Kim DM, Byun JN (2008). "Effects of Antibiotic Treatment on the Results of Nested PCRs for Scrub Typhus". J Clin Microbiol. 46 (10): 3465–. doi:10.1128/JCM.00634-08. PMC 2566087. PMID 18716229.
24. ^ Watt G, Chouriyagune C, Ruangweerayud R, et al. (1996). "Scrub typhus infections poorly responsive to antibiotics in northern Thailand". Lancet. 348 (9020): 86–89. doi:10.1016/S0140-6736(96)02501-9. PMID 8676722.
25. ^ Kollars TM, Bodhidatta D, Phulsuksombati D, et al. (2003). "Short report: variation in the 56-kD type-specific antigen gene of Orientia tsutsugamushi isolated from patients in Thailand". Am J Trop Med Hyg. 68 (3): 299–300. doi:10.4269/ajtmh.2003.68.299. PMID 12685633.
26. ^ El Sayed, Iman; Liu, Qin; Wee, Ian; Hine, Paul (24 September 2018). "Antibiotics for treating scrub typhus". The Cochrane Database of Systematic Reviews. 9: CD002150. doi:10.1002/14651858.CD002150.pub2. ISSN 1469-493X. PMC 6485465. PMID 30246875.
27. ^ Phimda K, Hoontrakul S, Suttinont C, et al. (2007). "Doxycycline versus Azithromycin for Treatment of Leptospirosis and Scrub Typhus". Antimicrob Agents Chemother. 51 (9): 3259–63. doi:10.1128/AAC.00508-07. PMC 2043199. PMID 17638700.
28. ^ Mahajan SK, Rolain JM, Sankhyan N, Kaushal RK, Raoult D (2008). "Pediatric scrub typhus in Indian Himalayas". Indian Journal of Pediatrics. 75 (9): 947–9. doi:10.1007/s12098-008-0198-z. PMID 19011809.
29. ^ Watt, G; Kantipong, P; Jongsakul, K; Watcharapichat, P; Phulsuksombati, D (1999). "Azithromycin Activities against Orientia tsutsugamushi Strains Isolated in Cases of Scrub Typhus in Northern Thailand". Antimicrob Agents Chemother. 43 (11): 2817–2818. doi:10.1128/AAC.43.11.2817. PMC 89570. PMID 10543774.
30. ^ Choi EK, Pai H (1998). "Azithromycin therapy for scrub typhus during pregnancy". Clin Infect Dis. 27 (6): 1538–9. doi:10.1086/517742. PMID 9868680.
31. ^ a b Kim YS, Lee HJ, Chang M, Son SK, Rhee YE, Shim SK (2006). "Scrub typhus during pregnancy and its treatment: a case series and review of the literature". Am J Trop Med Hyg. 75 (5): 955–9. doi:10.4269/ajtmh.2006.75.955. PMID 17123995.
32. ^ <Please add first missing authors to populate metadata.> (2003). "Efficacy of azithromycin for treatment of mild scrub-typhus infections in South Korea". Abstr Intersci Conf Antimicrob Agents Chemother. 43: abstract no. L–182.
33. ^ Mathai E, Rolain JM, Verghese L, Mathai M, Jasper P, Verghese G, Raoult D (2003). "Case reports: scrub typhus during pregnancy in India". Trans R Soc Trop Med Hyg. 97 (5): 570–2. doi:10.1016/S0035-9203(03)80032-9. PMID 15307429.
34. ^ Watt G, Kantipong P, Jongsakul K, et al. (2000). "Doxycycline and rifampicin for mild scrub-typhus infections in northern Thailand: a randomised trial". Lancet. 356 (9235): 1057–1061. doi:10.1016/S0140-6736(00)02728-8. PMID 11009140.
35. ^ Arguin PM, Kozarsky PE, Reed C (2008). "Chapter 4: Rickettsial Infections". CDC Health Information for International Travel, 2008. Mosby. ISBN 978-0-323-04885-9.
36. ^ "AWIC Newsletter: The Cotton Rat In Biomedical Research". Archived from the original on 2004-06-10.
37. ^ "Scrub Typhus Vaccine, Far East". Hansard. Millbanksystems. April 2, 1946.
38. ^ Thomson Walker W (1947). "Scrub Typhus Vaccine". Br Med J. 1 (4501): 484–7. doi:10.1136/bmj.1.4501.484. PMC 2053023. PMID 20248030.
39. ^ Shirai A, Tanskul PL, Andre, RG, et al. (1981). "Rickettsia tsutsugamushi strains found in chiggers collected in Thailand". Southeast Asian J Trop Med Public Health. 12 (1): 1–6. PMID 6789455.
40. ^ Kang JS, Chang WH (1999). "Antigenic relationship among the eight prototype and new serotype strains of Orientia tsutsugamushi revealed by monoclonal antibodies". Microbiol Immunol. 43 (3): 229–34. doi:10.1111/j.1348-0421.1999.tb02397.x. PMID 10338191.
41. ^ Kelly DJ, Fuerst PA, Ching WM, Richards AL (2009). "Scrub typhus: The geographic distribution of phenotypic and genotypic variants of Orientia tsutsugamushi". Clinical Infectious Diseases. 48 (s3): S203–30. doi:10.1086/596576. PMID 19220144.
42. ^ Audy JR (1968). Red mites and typhus. London: University of London, Athlone Press. ISBN 978-0-485-26318-3.
43. ^ Kearny CH (1997). Jungle Snafus...And Remedies. Cave Junction, Oregon: Oregon Institute of Science & Medicine. p. 309. ISBN 978-1-884067-10-5.
44. ^ Smallman-Raynor M, Cliff AD (2004). War epidemics: an historical geography of infectious diseases in military conflict and civil strife, 1850–2000. Oxford: Oxford University Press. pp. 489–91. ISBN 978-0-19-823364-0.
45. ^ a b William Manchester (1978). "The Green War". American Caesar. Little Brown Company. pp. 297–298. ISBN 978-0-316-54498-6.
46. ^ Manchester, p. Six months to recapture Buna and Gona from July 21–22, 1942
47. ^ Ogawa M, Hagiwara T, Kishimoto T, et al. (1 August 2002). "Scrub typhus in Japan: Epidemiology and clinical features of cases reported in 1998". Am J Trop Med Hyg. 67 (2): 162–5. doi:10.4269/ajtmh.2002.67.162. PMID 12389941.
48. ^ a b c González, C. (January 29, 2020). "Una bacteria presente en ácaros causa un raro tipo de infección en el sur". El Mercurio (in Spanish). p. A9.
## External links[edit]
Classification
D
* ICD-10: A75.3
* ICD-9-CM: 081.2
* MeSH: D01261
* DiseasesDB: 31715
External resources
* eMedicine: derm/841 ped/2710
* v
* t
* e
Proteobacteria-associated Gram-negative bacterial infections
α
Rickettsiales
Rickettsiaceae/
(Rickettsioses)
Typhus
* Rickettsia typhi
* Murine typhus
* Rickettsia prowazekii
* Epidemic typhus, Brill–Zinsser disease, Flying squirrel typhus
Spotted
fever
Tick-borne
* Rickettsia rickettsii
* Rocky Mountain spotted fever
* Rickettsia conorii
* Boutonneuse fever
* Rickettsia japonica
* Japanese spotted fever
* Rickettsia sibirica
* North Asian tick typhus
* Rickettsia australis
* Queensland tick typhus
* Rickettsia honei
* Flinders Island spotted fever
* Rickettsia africae
* African tick bite fever
* Rickettsia parkeri
* American tick bite fever
* Rickettsia aeschlimannii
* Rickettsia aeschlimannii infection
Mite-borne
* Rickettsia akari
* Rickettsialpox
* Orientia tsutsugamushi
* Scrub typhus
Flea-borne
* Rickettsia felis
* Flea-borne spotted fever
Anaplasmataceae
* Ehrlichiosis: Anaplasma phagocytophilum
* Human granulocytic anaplasmosis, Anaplasmosis
* Ehrlichia chaffeensis
* Human monocytotropic ehrlichiosis
* Ehrlichia ewingii
* Ehrlichiosis ewingii infection
Rhizobiales
Brucellaceae
* Brucella abortus
* Brucellosis
Bartonellaceae
* Bartonellosis: Bartonella henselae
* Cat-scratch disease
* Bartonella quintana
* Trench fever
* Either B. henselae or B. quintana
* Bacillary angiomatosis
* Bartonella bacilliformis
* Carrion's disease, Verruga peruana
β
Neisseriales
M+
* Neisseria meningitidis/meningococcus
* Meningococcal disease, Waterhouse–Friderichsen syndrome, Meningococcal septicaemia
M−
* Neisseria gonorrhoeae/gonococcus
* Gonorrhea
ungrouped:
* Eikenella corrodens/Kingella kingae
* HACEK
* Chromobacterium violaceum
* Chromobacteriosis infection
Burkholderiales
* Burkholderia pseudomallei
* Melioidosis
* Burkholderia mallei
* Glanders
* Burkholderia cepacia complex
* Bordetella pertussis/Bordetella parapertussis
* Pertussis
γ
Enterobacteriales
(OX−)
Lac+
* Klebsiella pneumoniae
* Rhinoscleroma, Pneumonia
* Klebsiella granulomatis
* Granuloma inguinale
* Klebsiella oxytoca
* Escherichia coli: Enterotoxigenic
* Enteroinvasive
* Enterohemorrhagic
* O157:H7
* O104:H4
* Hemolytic-uremic syndrome
* Enterobacter aerogenes/Enterobacter cloacae
Slow/weak
* Serratia marcescens
* Serratia infection
* Citrobacter koseri/Citrobacter freundii
Lac−
H2S+
* Salmonella enterica
* Typhoid fever, Paratyphoid fever, Salmonellosis
H2S−
* Shigella dysenteriae/sonnei/flexneri/boydii
* Shigellosis, Bacillary dysentery
* Proteus mirabilis/Proteus vulgaris
* Yersinia pestis
* Plague/Bubonic plague
* Yersinia enterocolitica
* Yersiniosis
* Yersinia pseudotuberculosis
* Far East scarlet-like fever
Pasteurellales
Haemophilus:
* H. influenzae
* Haemophilus meningitis
* Brazilian purpuric fever
* H. ducreyi
* Chancroid
* H. parainfluenzae
* HACEK
Pasteurella multocida
* Pasteurellosis
* Actinobacillus
* Actinobacillosis
Aggregatibacter actinomycetemcomitans
* HACEK
Legionellales
* Legionella pneumophila/Legionella longbeachae
* Legionnaires' disease
* Coxiella burnetii
* Q fever
Thiotrichales
* Francisella tularensis
* Tularemia
Vibrionaceae
* Vibrio cholerae
* Cholera
* Vibrio vulnificus
* Vibrio parahaemolyticus
* Vibrio alginolyticus
* Plesiomonas shigelloides
Pseudomonadales
* Pseudomonas aeruginosa
* Pseudomonas infection
* Moraxella catarrhalis
* Acinetobacter baumannii
Xanthomonadaceae
* Stenotrophomonas maltophilia
Cardiobacteriaceae
* Cardiobacterium hominis
* HACEK
Aeromonadales
* Aeromonas hydrophila/Aeromonas veronii
* Aeromonas infection
ε
Campylobacterales
* Campylobacter jejuni
* Campylobacteriosis, Guillain–Barré syndrome
* Helicobacter pylori
* Peptic ulcer, MALT lymphoma, Gastric cancer
* Helicobacter cinaedi
* Helicobacter cellulitis
Authority control
* NDL: 00573557
*[v]: View this template
*[t]: Discuss this template
*[e]: Edit this template
*[c.]: circa
*[AA]: Adrenergic agonist
*[AD]: Acetaldehyde dehydrogenase
*[HAART]: highly active antiretroviral therapy
*[Ki]: Inhibitor constant
*[nM]: nanomolars
*[MOR]: μ-opioid receptor
*[DOR]: δ-opioid receptor
*[KOR]: κ-opioid receptor
*[SERT]: Serotonin transporter
*[NET]: Norepinephrine transporter
*[NMDAR]: N-Methyl-D-aspartate receptor
*[M:D:K]: μ-receptor:δ-receptor:κ-receptor
*[ND]: No data
*[NOP]: Nociceptin receptor
*[BMI]: body mass index
*[OCD]: Obsessive-compulsive disorder
*[SSRIs]: Selective serotonin reuptake inhibitors
*[SNRIs]: Serotonin–norepinephrine reuptake inhibitor
*[TCAs]: Tricyclic antidepressants
*[MAOIs]: Monoamine oxidase inhibitors
*[MSNs]: medium spiny neurons
*[CREB]: cAMP response element binding protein
*[NC]: neurogenic claudication
*[LSS]: lumbar spinal stenosis
*[DDD]: degenerative disc disease
*[CI]: confidence interval
*[E2]: estradiol
*[CEEs]: conjugated estrogens
*[Diff]: Difference
*[7d avg]: Average of the last 7 days
*[per 100k pop]: Deaths per 100,000 population using 10.12 Million as Sweden's total population
*[Cases per 100k]: Cases per 100,000 county population
*[Deaths per 100k]: Deaths per 100,000 county population
*[Percent]: Percent of total in category
*[Rate]: ICU-care cases per confirmed cases in each category
*[GER]: Germany
*[FRA]: France
*[ITA]: Italy
*[ESP]: Spain
*[DEN]: Denmark
*[SUI]: Switzerland
*[USA]: United States
*[COL]: Colombia
*[KAZ]: Kazakhstan
*[NED]: Netherlands
*[LIT]: Lithuania
*[POR]: Portugal
*[AUT]: Austria
*[AUS]: Australia
*[RUS]: Russia
*[LUX]: Luxembourg
*[UKR]: Ukraine
*[SLO]: Slovenia
*[GBR]: Great Britain
*[CZE]: Czech Republic
*[BEL]: Belgium
*[CAN]: Canada
*[DHT]: Dihydrotestosterone
*[IM]: intramuscular injection
*[SC]: subcutaneous injection
*[MRIs]: monoamine reuptake inhibitors
*[GHB]: γ-hydroxybutyric acid
*[pop.]: population
*[et al.]: et alia (and others)
*[a.k.a.]: also known as
*[mRNA]: messenger RNA
*[kDa]: kilodalton
*[EPC]: Early Prostate Cancer
*[LAPC]: locally advanced prostate cancer
*[NSAAs]: nonsteroidal antiandrogens
*[NSAA]: nonsteroidal antiandrogen
*[GnRH]: gonadotropin-releasing hormone
*[ADT]: androgen deprivation therapy
*[LH]: Luteinizing hormone
*[AR]: Androgen receptor
*[CAB]: combined androgen blockade
*[LPC]: localized prostate cancer
*[CPA]: cyproterone acetate
*[U.S.]: United States
*[FDA]: Food and Drug Administration
*[lit.]: literal translation
*[CMPF]: 3-carboxyl-4-methyl-5-propyl-2-furanpropionic acid
*[No.]: Number
*[XLSMA]: X-linked spinal muscular atrophies
*[DSMA]: Distal spinal muscular atrophies
*[EUA]: emergency use authorization
*[AAS]: anabolic–androgenic steroid
*[hCG]: human chorionic gonadotropin
*[SARMs]: Selective androgen receptor modulator
*[GPRC6A]: G protein-coupled receptor family C group 6 member A
*[SHBG]: Sex hormone-binding globulin
*[ATP]: Adenosine triphosphate
*[CNTs]: Concentrative nucleoside transporters
*[ENTs]: Equilibrative nucleoside transporters
*[PMAT]: Plasma membrane monoamine transporter
*[XO]: Xanthine oxidase
*[[*]]: Article is not yet available in this wiki.
*[Pub.L.]: Public Law (United States)
*[CFUs]: Colony-forming units
*[nm]: nanometer
*[CRF]: corticotropin-releasing factor
*[cAMP]: cyclic adenosine monophosphate
*[†]: Extinct
*[VDCCs]: voltage-dependent calcium channels
*[ADHD]: Attention-deficit hyperactivity disorder
*[CNS]: central nervous system
*[PPD]: Paranoid Personality Disorder
*[SzPD]: Schizoid Personality Disorder
*[StPD]: Schizotypal Personality Disorder
*[ASPD]: Antisocial Personality Disorder
*[BPD]: Borderline Personality Disorder
*[HPD]: Histrionic Personality Disorder
*[NPD]: Narcissistic Personality Disorder
*[AvPD]: Avoidant Personality Disorder
*[DPD]: Dependent Personality Disorder
*[OCPD]: Obsessive-Compulsive Personality Disorder
*[PAPD]: Passive-Aggressive Personality Disorder
*[DpPD]: Depressive Personality Disorder
*[SDPD]: Self-Defeating Personality Disorder
*[SaPD]: Sadistic Personality Disorder
*[m.]: married
*[MSM]: Men who have sex with men
*[NI]: Northern Ireland
*[%DV]: Percentage of Daily Value
*[NSW DCR]: New South Wales District Court Reports
*[transl.]: translation
*[α2δ]: alpha2delta subunit
*[VDCC]: voltage-gated calcium channel
*[GABAAR]: GABAA receptor
*[PAMs]: positive allosteric modulators
*[H1R]: H1 receptor
*[TeCAs]: Tetracyclic antidepressants
*[OXR]: Orexin receptor
*[MTR]: Melatonin receptor
*[THC]: tetrahydrocannabinol
*[5-HTP]: 5-hydroxytryptophan
*[NRIs]: Norepinephrine reuptake inhibitors
*[NDRIs]: Norepinephrine–dopamine reuptake inhibitors
*[NaSSAs]: Noradrenergic and specific serotonergic antidepressants
*[SARIs]: Serotonin antagonist and reuptake inhibitors
*[SMS]: Serotonin modulator and stimulators
*[MAOA]: Monoamine oxidase A
*[MAOB]: Monoamine oxidase B
*[SAMe]: S-adenosyl-L-methionine
*[FSH]: Follicle-stimulating hormone
|
Scrub typhus
|
c0036472
| 28,299 |
wikipedia
|
https://en.wikipedia.org/wiki/Scrub_typhus
| 2021-01-18T18:48:51 |
{"mesh": ["D012612"], "umls": ["C0036472"], "orphanet": ["83317"], "wikidata": ["Q1194496"]}
|
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