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Epignathus is a rare teratoma of the oropharynx.[1] Epignathus is a form of oropharyngeal teratoma that arises from the palate and, in most cases, results in death. The pathology is thought to be due to unorganized and uncontrolled differentiation of somatic cells leading to formation of the teratoma; sometimes it is also referred to as "fetus-in-fetu", which is an extremely rare occurrence of an incomplete but parasitic fetus located in the body of its twin.[2][3] This tumor is considered benign but life-threatening because of its atypical features (size, location, and rate of development) and high risk of airway obstruction, which is the cause of death in 80-100% of the cases at the time of delivery.[1] Despite the high mortality rate, the most important factor in improving survival probability is to detect and diagnose the lesion before birth using ultrasound and MRI scans.[4] If undetected prenatally, the epignathus will be apparent immediately after birth, but prognosis will be poor due to lack of preparation and treatment plans.[1] Most babies with epignathus have a poor prognosis due to late diagnosis and subsequently, complications of securing the airway.[2] However, with early detection and multidisciplinary healthcare teams, an adequate treatment plan to secure the baby's airway and surgically remove the lesion may improve the prognosis.[2] Treatment options for this rare condition prioritizes managing the risk of asphyxiation before deciding on an appropriate plan for the teratoma resection.[5] ## Contents * 1 Pathology * 2 Epidemiology * 3 Diagnosis * 4 Treatment * 5 Prognosis * 6 References ## Pathology[edit] Teratomas, which are generally benign tumors, originate from stem cells, with the oropharynx (epignathus) region being the second most common location for head and neck teratomas.[2] The tumor arises from the palato-pharyngeal region around the basisphenoid (Rathke's pouch), or most commonly the base of the skull.[6] Epignathi are present from birth and has been shown to affect all three germ layers (ectodermal, mesodermal, and endodermal layers) and can include cartilage, bone, and fat.[1][2] Case reports describe the possibility for an epignathus to present with an incompletely formed and parasitic fetal twin, which is called "fetus-in-fetu".[7] Many case reports about babies with epignathus have reported common malformations of cleft palate, and bifid tongue and/or nose.[1][2] The tumor can grow within the oral cavity and protrude out of the mouth, causing obstruction of the airway and therefore mortality.[8] This lesion may be associated with polyhydramnios, or excessive amniotic fluid around the fetus, and typically prevents the fetus from swallowing the amniotic fluid. In rare cases, the tumor may spread into the cranial cavity; some which have extended into the brain and others which have been encapsulated and do not enter the brain.[9] Most neonates and young children who present with epignathus have exhibited benign tumors, in comparison to older children and adults who have presented with more malignant teratomas.[2] Recent findings have shown some genetic abnormalities associated with epignathi.[9] There have been case reports noting chromosomal irregularities such as a 49,XXXXY karyotype,[10] duplication of 1q and 19p,[11] and ring X chromosome mosaicism.[12] However, this theory is still inconclusive, as there have been other studies that have shown no chromosomal abnormalities.[13] ## Epidemiology[edit] Teratomas develop in the head and neck region with a live birth (fetus shows signs of life after leaving mother's womb) incidence of 1:20,000 to 40,000.[14] Due to the rarity of epignathus, the information gathered regarding incidence and prevalence is sourced from case reports. The occurrence of epignathus, a teratoma of the oropharynx, is extremely rare with a live birth incidence found to be 1:35,000 to 200,000.[1] Of the reported incidents, epignathi was found to be more common in females than males (3:1 ratio), however there is no evidence proving an individual's genetics makeup will increase likelihood of developing this form of teratoma.[15] The studies have shown having one child with epignathus does not increase the chances of having pregnancies with this disease in the future.[16] An estimated 10% of most epignathi diagnoses also report epignathi related abnormalities and deformities such as the formation of a cleft palate (split in the mouth's roof due to abnormal fusing of the hard palate during fetal development), hemangiomas (development of extra blood vessels), and more.[17][2] ## Diagnosis[edit] Epignathus occurs at a critical location, which makes this tumor extremely deathly and not operable in newborn children. One of the leading equipments that can be used for diagnosing teratoma and epignathus is ultrasound. The picture that the ultrasound generates is a sonogram, and the evaluation is called sonography. Diagnosis of Epignathus may be made before the birth of the child with ultrasound. Sonography evaluation is essential during pregnancy for diagnosing it and perhaps surgically removing the teratoma while the child is not born yet.[3] One of the main characteristics of epignathus in the sonography evaluation is a relatively large mass that can be seen in the anterior or front side of the neck.[3][8] For diagnosing epignathus, radiographing, which is an imaging tool for bones and skeleton, might not be very helpful because no skeletal abnormalities were seen in several cases. However, microscopic examination of the tumor might be helpful. The microscopic examination focuses on the cell growth pattern. Because epignathus is a type of teratoma, they have a unique structure to their cell growth. Hence, the pattern of microscopic examination can show a growth pattern consistent with teratoma.[4] The other method that can be used to diagnose epignathus is karyotyping, which shows abnormalities in the fetus. However, the parents' chromosomes are healthy, and there is no evidence of it being inherited genetically.[16] Epiganthus is a very rare condition that makes the studies on it more of case studies. In some of these case reports, it was seen that the diagnosis of epignathus occurred as early as 17 weeks.[16] However, in other case studies, the ultrasound was normal at 17 weeks. These abnormalities were found after 16–17 weeks, which can illustrate that the teratoma may form later in pregnancy. If the tumor is small enough, it might appear at the delivery unpredicted or even later on, in a child.[16] For example, in one case, Epignathus was detected at week 28, which caused change in the structure of face and airways, and the child was born in week 34 with Caesarean section and needed assistance for breathing.[18] If the diagnosis of epignathus does not happen during pregnancy, and the baby survives to birth, even though it becomes immediately apparent, there is a low chance for survival.[8] Other clinical features include dyspnoea, cyanosis, and difficulty in breathing, sucking and swallowing due to the presence of the tumor.[8] ## Treatment[edit] The main priority for treating epignathus is to establish a usable airway free of obstruction and then to feed the baby.[19][20] This is frequently difficult because there are often complications due to the large mass of the tumor, its location, the complex progression and required corrective modifications.[1] These tumors, characterized as unusual masses or lumps of tissue, are often the result of abnormal tissue growth and may remain localized in one area or spread to other parts of the body. However, diagnostic imaging tools such as 3-D ultrasonography and magnetic resonance imaging (MRI) have been essential in early detection of tumors in the head and neck region of the fetus.[2] Although few cases have been treated successfully, early prenatal detection and intervention prior to birth has proven to be key in order to have a chance to save the baby's life.[9] 3-D ultrasonography works to create an image by producing high frequency sound waves throughout the body in order to detect and receive echo sound. These echoes are then interpreted to form an image depending on how strong the echo was and how long the echo was received after the sound waves were transmitted. Compared to other imaging techniques that use radioactive dyes or ionizing radiation, ultrasounds have been considered safe.[21] The use of 3-D ultrasonography has allowed surgeons to pinpoint the exact position of organs and tissues within the body and has been proven vital for surgical guidance especially when treating transplant and cancer.[22] Magnetic resonance imaging (MRI) is another medical imaging technique that uses strong magnetic fields and radio waves to create images of organs and tissues within the body.[23] It is important to understand that MRI does not involve x-rays or ionizing radiation, which makes it a better and safer choice for medical imaging compared to CT and PET scans.[23] The use of these diagnostic tools during fetal development are important for early detection of any abnormal masses that may turn out to be tumors. If tumors are detected early using the featured diagnostic tools, the baby should be stabilized before surgical removal is conducted to repair the abnormalities.[5] In order to stabilize the baby, the umbilical cord is kept intact to provide oxygen to the fetus in case of airway obstruction.[5] This is important in the case that a tracheostomy, or operation required to allow air to enter the lungs, is required in order to save the baby's life.[5] Only after the airway is secured should the umbilical cord be clamped and the baby can proceed with surgery.[5] During surgery, a complete repair and removal procedure of the diseased tissues, especially those that may spread throughout the body, is necessary in order to prevent any chance of reoccurrence after a period of improvement.[2] Following surgery, chemotherapy may be used to promote residual tumor regression.[9] In some cases, because of the complications of the epignathus tumor, terminating the pregnancy might be an option that needs to get discussed.[16] ## Prognosis[edit] Epignathus diagnoses have a very poor prognosis or outcome with a death rate of 80–100% in newborn babies (either before delivery or shortly after delivery), primarily due to asphyxiation or suffocation from the tumor blocking the baby's airway.[15][3] The course of the disease and outcome are dependent on many factors including size, location, and rate of development of the teratoma, all of which affect the magnitude of airway obstruction.[24] Other complications such as the deformation of facial structure or deformation of jaw structure may impact the baby's ability to swallow and breathe, which may also negatively impact the prognosis as well.[15] If the tumors are large, they might cause changes in the structure of face, nose and upper lips, to the point that they cannot be identified.[16] Factors that may improve survival rates include early diagnosis of epignathus before birth, multidisciplinary management in preventing obstruction in the airways, and feasibility in surgical removal of the teratoma.[25][26] The prognosis can result in broad range of outcomes. In some cases, pregnancies were terminated after the fetus was diagnosed with epignathus for different complications. The most common reason was that the tumor was continuing to spread even further in the head and mouth area.[16] Very few long term survivors have been reported so the prognosis past the neonatal period is unclear.[27] ## References[edit] 1. ^ a b c d e f g Kumar SY, Shrikrishna U, Shetty J, Sitaram A (January 2011). "Epignathus with fetiform features". Journal of Laboratory Physicians. 3 (1): 56–8. doi:10.4103/0974-2727.78571. PMC 3118061. PMID 21701667. 2. ^ a b c d e f g h i j Jadhav SS, Korday CS, Malik S, Shah VK, Lad SK (January 2017). "Epignathus Leading to Fatal Airway Obstruction in a Neonate". Journal of Clinical and Diagnostic Research. 11 (1): SD04–SD05. doi:10.7860/JCDR/2017/24956.9283. PMC 5324461. PMID 28274016. 3. ^ a b c d Tsitouridis I, Sidiropoulos D, Michaelides M (January 2009). "Sonographic evaluation of epignathus". Hippokratia. 13 (1): 55–7. PMC 2633256. PMID 19240824. 4. ^ a b Sarioglu, N.; Wegner, R. D.; Gasiorek-Wiens, A.; Entezami, M.; Schmock, J.; Hagen, A.; Becker, R. (2003). "Epignathus: Always a simple teratoma? Report of an exceptional case with two additional fetiforme bodies". Ultrasound in Obstetrics and Gynecology. 21 (4): 397–403. doi:10.1002/uog.92. PMID 12704752. S2CID 30626153. 5. ^ a b c d e Oliveira-Filho AG, Carvalho MH, Bustorff-Silva JM, Sbragia-Neto L, Miyabara S, Oliveira ER (March 1998). "Epignathus: report of a case with successful outcome". Journal of Pediatric Surgery. 33 (3): 520–1. doi:10.1016/S0022-3468(98)90103-8. PMID 9537572. 6. ^ Shihurkar R (2018-05-20). "04 / Airway management in Oropharyngeal recurrence of Cervical Teratoma: a case report". doi:10.26226/morressier.5aeb0acb07b0d6001a79aa73. Cite journal requires `\|journal=` (help) 7. ^ Senyüz OF, Rizalar R, Celayir S, Oz F (December 1992). "Fetus in fetu or giant epignathus protruding from the mouth". Journal of Pediatric Surgery. 27 (12): 1493–5. doi:10.1016/0022-3468(92)90480-u. PMID 1469547. 8. ^ a b c d Moon NR, Min JY, Kim YH, Choi SK, Shin JC, Park IY (January 2015). "Prenatal diagnosis of epignathus with multiple malformations in one fetus of a twin pregnancy using three-dimensional ultrasonography and magnetic resonance imaging". Obstetrics & Gynecology Science. 58 (1): 65–8. doi:10.5468/ogs.2015.58.1.65. PMC 4303755. PMID 25629021. 9. ^ a b c d Kirishima M, Yamada S, Shinya M, Onishi S, Goto Y, Kitazono I, et al. (December 2018). "An autopsy case of epignathus (immature teratoma of the soft palate) with intracranial extension but without brain invasion: case report and literature review". Diagnostic Pathology. 13 (1): 99. doi:10.1186/s13000-018-0776-y. PMC 6303979. PMID 30579363. 10. ^ Staboulidou I, Miller K, Göhring G, Hillemanns P, Wüstemann M (2008). "Prenatal diagnosis of an epignathus associated with a 49,XXXXY karyotype--a case report". Fetal Diagnosis and Therapy. 24 (3): 313–7. doi:10.1159/000160219. PMID 18832850. S2CID 1536692. 11. ^ Schwartz S, Raffel LJ, Sun CC, Waters E (October 1992). "An unusual mosaic karyotype detected through prenatal diagnosis with duplication of 1q and 19p and associated teratoma development". Teratology. 46 (4): 399–404. doi:10.1002/tera.1420460410. PMID 1384156. 12. ^ Witters I, Moerman P, Louwagie D, Van Assche FA, Migeon BR, Fryns JP (2001-10-01). "Second trimester prenatal diagnosis of epignathus teratoma in ring X chromosome mosaicism with inactive ring X chromosome". Annales de Génétique. 44 (4): 179–82. doi:10.1016/S0003-3995(01)01090-5. PMID 11755101. 13. ^ Wang AC, Gu YQ, Zhou XY (October 2017). "Congenital Giant Epignathus with Intracranial Extension in a Fetal". Chinese Medical Journal. 130 (19): 2386–2387. doi:10.4103/0366-6999.215343 (inactive 2021-01-17). PMC 5634094. PMID 28937049.CS1 maint: DOI inactive as of January 2021 (link) 14. ^ Yeo WX, Tan KK (2018). "Diagnosis and Surgical Management of Congenital Intranasal Teratoma in a Newborn: A Rare Case Report". Case Reports in Otolaryngology. 2018: 1403912. doi:10.1155/2018/1403912. PMC 5933031. PMID 29850332. 15. ^ a b c Tunes RS, Cavalcanti GZ, Squarisi JM, Patrocinio LG (March 2019). "Oral Epignathus with Maxilla Duplication: Report of a Rare Case". Craniomaxillofacial Trauma & Reconstruction. 12 (1): 62–66. doi:10.1055/s-0038-1649497. PMC 6391259. PMID 30815217. 16. ^ a b c d e f g Clement K, Chamberlain P, Boyd P, Molyneux A (August 2001). "Prenatal diagnosis of an epignathus: a case report and review of the literature". Ultrasound in Obstetrics & Gynecology. 18 (2): 178–81. doi:10.1046/j.1469-0705.2001.00456.x. PMID 11530004. S2CID 3264836. 17. ^ Tonni G, De Felice C, Centini G, Ginanneschi C (October 2010). "Cervical and oral teratoma in the fetus: a systematic review of etiology, pathology, diagnosis, treatment and prognosis". Archives of Gynecology and Obstetrics. 282 (4): 355–61. doi:10.1007/s00404-010-1500-7. PMID 20473617. S2CID 35256372. 18. ^ Too S, Ahmad Sarji S, Yik Y, Ramanujam T (April 2008). "Malignant epignathus teratoma". Biomedical Imaging and Intervention Journal. 4 (2): e18. doi:10.2349/biij.4.2.e18. PMC 3097708. PMID 21614323. 19. ^ Chiu, Hsin-Hui; Hsu, Wei-Chung; Shih, Jin-Chung; Tsao, Po-Nien; Hsieh, Wu-Shiun; Chou, Hung-Chieh (2008). "The EXIT (Ex Utero Intrapartum Treatment) Procedure". Journal of the Formosan Medical Association. 107 (9): 745–748. doi:10.1016/s0929-6646(08)60121-7. PMID 18796366. 20. ^ Dakpé, S.; Demeer, B.; Cordonnier, C.; Devauchelle, B. (2014). "Emergency management of a congenital teratoma of the oral cavity at birth and three-year follow-up". International Journal of Oral and Maxillofacial Surgery. 43 (4): 433–436. doi:10.1016/j.ijom.2013.09.004. PMID 24467932. 21. ^ Merritt CR (November 1989). "Ultrasound safety: what are the issues?". Radiology. 173 (2): 304–6. doi:10.1148/radiology.173.2.2678243. PMID 2678243. 22. ^ Ding M, Cardinal HN, Fenster A (February 2003). "Automatic needle segmentation in three-dimensional ultrasound images using two orthogonal two-dimensional image projections". Medical Physics. 30 (2): 222–34. Bibcode:2003MedPh..30..222D. doi:10.1118/1.1538231. PMID 12607840. 23. ^ a b "MRI, CT, & PET. What do they Mean?". Revere Health. 2016-11-02. Retrieved 2020-08-04. 24. ^ Kaido Y, Kikuchi A, Oyama R, Kanasugi T, Fukushima A, Sugiyama T (January 2013). "Prenatal ultrasound and magnetic resonance imaging findings of a hypovascular epignathus with a favorable prognosis". Journal of Medical Ultrasonics. 40 (1): 61–4. doi:10.1007/s10396-012-0381-8. PMID 27276927. S2CID 1066507. 25. ^ Morcillo J, de Agustín JC, Fernández-Hurtado M (April 2009). "[Perinatal diagnosis and management of epignathus]". Cirugia Pediatrica. 22 (2): 81–6. PMID 19715131. 26. ^ Kumar B, Sharma SB (September 2008). "Neonatal oral tumors: congenital epulis and epignathus". Journal of Pediatric Surgery. 43 (9): e9-11. doi:10.1016/j.jpedsurg.2008.03.055. PMID 18778989. 27. ^ Carvalho, Cyntia Helena Pereira de; Nonaka, Cassiano Francisco Weege; Elias, Cassandra Teixeira Valle; Matheus, Rita de Cassia Simões; Dias, Roberto Menezes Bezerra; Souza, Lélia Batista de; Pinto, Leão Pereira (2017). "Giant Epignathus Teratoma Discovered at Birth: A Case Report and 7-Year Follow-Up". Brazilian Dental Journal. 28 (2): 256–261. doi:10.1590/0103-6440201701368. PMID 28492758. Classification D [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	Epignathus	c0266725	29,300	wikipedia	https://en.wikipedia.org/wiki/Epignathus	2021-01-18T18:55:56	{"umls": ["C0266725"], "orphanet": ["141077"], "wikidata": ["Q55785438"]}
A rare dendritic cell tumor characterized by an aggressive, high-grade neoplasm derived from Langerhans cells, most commonly extranodal and multifocal, involving the skin and underlying soft tissue, as well as lung, liver, spleen, and bone. Primary nodal involvement is seen in a minority of patients. Immune-phenotyping and the presence of Birbeck granules on ultrastructural examination reveal the Langerhans cell derivation of the neoplastic cells. Prognosis is generally poor. [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	Langerhans cell sarcoma	c1260327	29,301	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=86897	2021-01-23T18:20:00	{"gard": ["10491"], "mesh": ["D054752"], "umls": ["C1260327"], "icd-10": ["C96.4"]}
A rare, hereditary amyloidosis with primary renal involvement characterized by fibrinogen A-alpha-chain amyloid deposition predominantly in the kidney glomeruli and clinically presenting with hypertension, uremia, nephrotic syndrome slowly progressing to end-stage renal disease. Extra-renal involvement is possible, due to neurological, cardiac, visceral and vascular amyloid deposition. [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	AFib amyloidosis	None	29,302	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93562	2021-01-23T19:04:45	{"icd-10": ["E85.0"], "synonyms": ["Familial amyloid nephropathy due to fibrinogen A alpha-chain variant", "Fibrinogen A alpha-chain amyloidosis", "Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant", "Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant"]}
A number sign (#) is used with this entry because of evidence that Witteveen-Kolk syndrome (WITKOS) is caused by heterozygous mutation in the SIN3A gene (607776) on chromosome 15q24. Some patients with a similar disorder have a contiguous gene deletion syndrome (chr15:72.15-73.85 Mb, NCBI36) that includes the SIN3A gene. Clinical Features Witteveen et al. (2016) reported 6 patients from 2 unrelated families and 3 singleton patients with intellectual disability and common dysmorphic facial features. Most of the patients were children, ranging in age from 4 to 16 years, but there was a mildly affected parent in each of the 2 families. The patients had mild intellectual disability with delayed development and speech delay, although some had normal motor and speech development. Several had autistic behavior and 2 had well-controlled seizures. Dysmorphic features included broad forehead, long face, downslanting palpebral fissures, flat or depressed nasal bridge, large fleshy ears, long and smooth philtrum, small mouth, and pointed chin. Additional variable features included short stature, microcephaly, joint hypermotility, and small hands and feet. Brain imaging showed dilated ventricles, thin corpus callosum and, in some cases, dysgyria or polymicrogyria. ### Chromosome 15q24 Deletion Syndrome Formiga et al. (1988) reported 2 unrelated patients with an interstitial deletion of chromosome 15q. The first child showed intrauterine and postnatal growth retardation, severe psychomotor retardation, and dysmorphic facial features, including microcephaly, slight microphthalmia, hypertelorism, slanting palpebral fissures, epicanthal folds, strabismus, hypopigmented irides, short nose, microretrognathia with open mouth and high-arched palate, and large ears. She also had abnormal insertion of several toes. Karyotype analysis showed a deletion of chromosome 15q22-q25. The second child had severe psychomotor retardation, hypotonia, and similar facial dysmorphism with small, slanting palpebral fissures, microphthalmia, large ears, hypopigmented irides, and microretrognathia with open mouth and arched palate. She had clinodactyly, abnormal insertion of the toes, and cardiovascular abnormalities, consisting of septal hypertrophy with dilatation of the aorta and pulmonary artery. Karyotype analysis showed a deletion of chromosome 15q21-q24. Bettelheim et al. (1998) reported 2 unrelated fetuses with significant left-sided congenital diaphragmatic hernia detected by ultrasound. One died in utero, and the other died 10 minutes after birth. Karyotype analysis showed a de novo interstitial deletion of chromosome 15q24 in the first and a deletion of chromosome 15q24-qter in the second. Cushman et al. (2005) reported 3 patients with interstitial deletions involving chromosome 15q24, including 2 with cryptic deletions and 1 with a cytogenetically visible deletion of chromosome 15q22.3-q24. All had global developmental delay and hypotonia. The 2 males had hypogonadism. Two patients were reported to have dysmorphic facial features, including epicanthal folds, strabismus, micrognathia, and cupped or notched ears, as well as digital anomalies, such as clinodactyly and tapering of the fingers. Sharp et al. (2007) reported 4 unrelated boys with mild to moderate developmental delay and dysmorphic facial features who were each heterozygous for a deletion at chromosome 15q24. Three had low birth weight, short stature, and microcephaly. Dysmorphic features included high anterior hairline, hypertelorism, downslanting palpebral fissures, broadening of the medial eyebrows, broad nasal base with flaring of the alae nasi, long smooth philtrum, and full lower lip. Three had joint laxity, 2 had scoliosis, and 3 had hypospadias. All had digital anomalies, such as long slender fingers and proximally implanted thumbs. Two had growth hormone deficiency; the other 2 were not tested. Van Esch et al. (2009) reported a 33-year-old man with severe mental retardation and a chromosome 15q24 microdeletion. Hypertelorism, broad nasal bridge, and large ears were noted in infancy. He had delayed psychomotor development and hypotonia. As a child, he had hyperactive behavior and showed aggressive outbursts, requiring institutionalization. At age 33, he was found to have a congenital diaphragmatic hernia of the Morgagni type. Dysmorphic features at that time included obesity, strabismus, downslanting palpebral fissures, long face with high forehead, long philtrum, and high-arched palate. He also had small genitals and unilateral cryptorchidism. Cytogenetic and array CGH analysis detected a de novo 3.1-Mb deletion at chromosome 15q24 with breakpoints within segmental duplication clusters. El-Hattab et al. (2009) reported 4 patients with the 15q24 deletion syndrome. All had developmental delay, short stature, hypotonia, joint laxity, digital anomalies, and characteristic facial features similar to previously reported cases. In a review of common reported features, El-Hattab et al. (2009) concluded that 15q24 deletion represents a distinct syndrome. General features include mild to severe developmental delay, hypotonia, short stature, digital anomalies, joint laxity, genital anomalies, and characteristic facial features, such as a high anterior hairline, facial asymmetry, ear malformations, broad medial eyebrows, downslanted palpebral fissures, hypertelorism, epicanthal folds, strabismus, long smooth philtrum, full lower lip, and broad nasal base. The distal extremity malformations consist of thumb anomalies, small hands with brachydactyly, clinodactyly, and foot-ankle deformities. Witteveen et al. (2016) identified 4 new patients with de novo heterozygous 15q24 deletions associated with intellectual disability and dysmorphic facial features. Brain imaging, performed on 2 patients, showed cortical dysgenesis, thin corpus callosum, and decreased white matter/delayed myelination. One had autism spectrum disorder and another had seizures. The smallest region of overlap of the deletion was about 200 kb and included the SIN3A gene. ### Chromosome 15q24 Duplication Syndrome Kiholm Lund et al. (2008) reported a 2-year-old boy with a chromosome 15q24 microduplication that was reciprocal to the minimal critical region for the chromosome 15q24 microdeletion. He had global developmental delay, hypospadias, and dysmorphic features, including low-set, posteriorly rotated ears, broad nasal bridge, hypertelorism, downslanting palpebral fissures, epicanthal folds, thick upper lip, and smooth philtrum. He also had digital anomalies with overlapping fingers and hypoplastic nails and hypotonia. Although the duplication was inherited from the healthy father, it was considered clinically significant, since the phenotype in the proband resembled the reciprocal deletion syndrome. El-Hattab et al. (2009) reported a 15-year-old boy with short stature, mild mental retardation, hypertonia, attention-deficit hyperactivity disorder, and Asperger syndrome who had a 2.6-Mb microduplication of chromosome 15q24, including the 1.75-Mb critical region. He had a long face, epicanthal folds, downslanting palpebral fissures, high nasal bridge, smooth philtrum, and full lower lip. Two sibs from a second family had a 2.11-Mb duplication of chromosome 15q24, distal to the critical region, and they showed developmental delay, axial hypotonia, tapering fingers, and characteristic facial features, such as hypertelorism, flat nasal bridge, and prominent ears. The 2 sibs inherited the duplication from their mother, who had learning disabilities. Cytogenetics By high-resolution oligonucleotide array analysis of 4 unrelated patients with 15q24 deletions ranging from 1.7 to 3.9 Mb in size, Sharp et al. (2007) found that the proximal breakpoints of 3 patients mapped to a common region, designated BP1. Two of these cases also shared a common distal breakpoint, BP3, with an alternate distal breakpoint in the third case, BP2. All of these breakpoints occurred in highly identical segmental duplication clusters. The fourth patient had an atypical deletion with unique breakpoints that occurred in nonrepetitive sequences. The minimal deletion critical region was 1.7 Mb between BP1 and BP2. In the 3 cases tested, the deletions were de novo on the maternal chromosome. Nonallelic homologous recombination (NAHR) was proposed as the molecular mechanism. In a patient with the 15q24 deletion syndrome, Van Esch et al. (2009) found that the proximal breakpoint mapped to a low-copy repeat (LCR) region proximal to BP1 as defined by Sharp et al. (2007) and that the distal breakpoint coincided with BP2. Van Esch et al. (2009) commented that both their patient and a patient reported by Sharp et al. (2007) with diaphragmatic hernia had deletions extending toward the centromere and covering almost the entire 15q24.1 cytogenetic band. El-Hattab et al. (2009) reported 2 patients with more proximal breakpoints similar to the patients of Van Esch et al. (2009) and Sharp et al. (2007), but congenital diaphragmatic hernia was not reported. El-Hattab et al. (2009) identified 2 new LCR clusters involved in 15q24 deletion syndrome in addition to the 3 reported by Sharp et al. (2007) and designated them as LCR15q24A and LCR15q24C. BP1, BP2, and BP3 were designated as LCR15q24B, LCR15q24D, and LCR15q24E, respectively. All the deletion and duplication breakpoints identified in their 7 patients were shown to map to these LCR regions. All 4 patients with the chromosome 15q24 deletion shared the 1.7-Mb critical region identified by Sharp et al. (2007). A microduplication found in 1 patient by El-Hattab et al. (2009) also included the 1.7-Mb critical region, but another microduplication in 2 sibs was distal to the critical region. Overall, the findings suggested that NAHR is the mechanism of the chromosome 15q24 deletion/duplication. Molecular Genetics In 6 patients from 2 unrelated families and in 3 unrelated singleton patients with WITKOS, Witteveen et al. (2016) identified 5 different heterozygous truncating mutations in the SIN3A gene (607776.0001-607776.0005). The mutations, which were found by exome sequencing, were predicted to result in haploinsufficiency. The phenotype was similar to that observed in patients with chromosome 15q24 deletion syndrome, suggesting that haploinsufficiency for SIN3A is the main cause of the phenotype of that disorder. Animal Model Witteveen et al. (2016) found that knockdown of Sin3a using shRNA in mice resulted in a significant reduction of cortical progenitor neurons in the proliferative zone. Loss of Sin3a also caused a change in neuronal identity, suggesting that it is required for proper differentiation, and caused aberrant corticocortical projections with abnormal callosal axon elongation and deviation compared to controls. The findings were consistent with a critical role for Sin3a in regulating the development of the mammalian cerebral cortex. INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Weight \- Low birth weight \- Obesity (less common) Other \- Intrauterine growth retardation \- Poor postnatal growth HEAD & NECK Head \- High forehead \- Microcephaly Face \- Long philtrum \- Smooth philtrum \- Microretrognathia \- Facial asymmetry \- Long face Ears \- Large ears \- Cupped ears Eyes \- Hypertelorism \- Downslanting palpebral fissures \- Strabismus \- Microphthalmia, mild \- Epicanthal folds \- Hypopigmentation of the iris Nose \- High nasal bridge \- Broad nasal bridge \- Depressed nasal bridge \- Flaring of nasal alae \- Wide, short nose Mouth \- Small mouth \- Full lower lip \- High arched palate \- Open mouth CHEST Diaphragm \- Diaphragmatic hernia (less common) GENITOURINARY External Genitalia (Male) \- Hypospadias \- Microphallus \- Cryptorchidism SKELETAL \- Joint laxity Spine \- Scoliosis Hands \- Digital abnormalities, variable \- Brachydactyly \- Hypoplastic thumbs \- Proximally implanted thumbs \- Clinodactyly \- Long, slender fingers Feet \- Abnormal insertion of the toes SKIN, NAILS, & HAIR Hair \- Thin hair \- High anterior hairline \- Broad medial eyebrows that taper laterally MUSCLE, SOFT TISSUES \- Loose connective tissue NEUROLOGIC Central Nervous System \- Delayed development \- Intellectual disability, mild \- Mental retardation \- Hypotonia \- Seizures (rare) \- Cortical abnormalities \- Enlarged ventricles \- Thin corpus callosum Behavioral Psychiatric Manifestations \- Attention deficit \- Hyperactivity \- Autistic features \- Aggression ENDOCRINE FEATURES \- Growth hormone deficiency (2 patients) \- Hypogonadotropic hypogonadism (1 patient) MISCELLANEOUS \- Variable phenotype \- Caused by a de novo heterozygous gene deletion syndrome at chromosome 15q24 (in some patients) MOLECULAR BASIS \- Caused by mutation in the SIN3, yeast, homolog of, A gene (SIN3A, 607776.0001 ) ▲ 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	WITTEVEEN-KOLK SYNDROME	c3697269	29,303	omim	https://www.omim.org/entry/613406	2019-09-22T15:58:48	{"doid": ["0060395"], "mesh": ["C579849"], "omim": ["613406"], "orphanet": ["94065", "500166"]}
A rare functional neutrophil defect characterized by infantile onset of increased susceptibility to pyogenic infections, especially of the skin, ears, lung, and lymph nodes, with neutrophils lacking specific granules and exhibiting bilobed nuclei on peripheral blood smear. Bone marrow biopsy shows hypercellularity, paucity of neutrophil granulocytes, and progressive myelodysplasia. Additional manifestations may include mild to moderate developmental delay, mild facial dysmorphic features (such as dysplastic ears), and anomalies of bones, teeth, and nails. [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	Recurrent infection due to specific granule deficiency	c0398593	29,304	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=169142	2021-01-23T17:57:28	{"gard": ["10778"], "mesh": ["C562873"], "omim": ["245480", "617475"], "icd-10": ["D71"], "synonyms": ["Neutrophil-specific granule deficiency"]}
Infiltrative ophthalmopathy is found in 5-10% of patients with Graves disease and resembles exophthalmos, except that the blurry or double vision is acquired because of weakness in the ocular muscles of the eye.[1][2] In addition, there is no known correlation with the patient's thyroid levels. Exophthalmos associated with Grave's disease disappears when the thyrotoxicosis is corrected. Infiltrative ophthalmopathy at times may not be cured. Treatments consist of high dose glucocorticoids and low dose radiotherapy.[3] The current hypothesis is that infiltrative ophthalmopathy may be autoimmune in nature targeting retrobulbar tissue. Smoking may also have a causative effect.[2] ## References[edit] 1. ^ Munjal, Y. P. (2015). API Textbook of Medicine (Volume I & II). JP Medical Ltd. p. 596. ISBN 9789351524151. Retrieved 5 December 2017. 2. ^ a b McDougall, I. Ross (2013). Thyroid Disease in Clinical Practice. Springer. p. 90. ISBN 9781489928818. Retrieved 5 December 2017. 3. ^ Panglossi, Harold V. (2006). Antioxidants: New Research. Nova Publishers. pp. 93–95. ISBN 9781594549991. Retrieved 5 December 2017. This article about an ophthalmic disease 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	Infiltrative ophthalmopathy	c0376323	29,305	wikipedia	https://en.wikipedia.org/wiki/Infiltrative_ophthalmopathy	2021-01-18T18:52:33	{"mesh": ["D049970"], "umls": ["C0376323"], "wikidata": ["Q16910365"]}
A number sign (#) is used with this entry because of evidence that spinocerebellar ataxia-15 (SCA15) can be caused by heterozygous mutation in the ITPR1 gene as well as by deletions involving the ITPR1 gene (147265) on chromosome 3p26. Description SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011). Heterozygous mutation in the ITPR1 gene can also cause SCA29 (117360), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment. Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by Harding (1983, 1993), is a genetically heterogeneous disorder (see, e.g., 117210). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). Clinical Features Storey et al. (2001) described an Australian kindred with a dominantly inherited 'pure' cerebellar ataxia in which linkage to known spinocerebellar ataxia loci was excluded by linkage studies and testing for trinucleotide repeat expansions. In 8 subjects studied, a notable clinical feature was slow progression, with the 3 least affected having only a mild degree of gait ataxia after 3 or more decades of disease duration. The name spinocerebellar ataxia-15 (SCA15) was applied. Miyoshi et al. (2001) reported a 4-generation Japanese family with autosomal dominant spinocerebellar ataxia. The ages at onset of the 9 affected members (5 men and 4 women) ranged from 20 to 66 years. All showed pure cerebellar ataxia, and 3 patients also had head tremor. Head MRI demonstrated cerebellar atrophy without brainstem involvement. Mutation analysis by PCR excluded mutations in previously identified genes causing SCA. Based on initial mapping, the disorder was designated SCA16. Miura et al. (2006) provided follow-up on the family reported by Miyoshi et al. (2001). Three additional patients were ascertained and 1 individual previously reported as affected was determined to be unaffected. The main common clinical features were saccadic eye movements, horizontal gaze-evoked nystagmus, dysarthria, and limb and truncal ataxia. Two affected individuals had evidence of mental impairment. Hara et al. (2004) reported 2 families with autosomal dominant spinocerebellar ataxia characterized by ataxic gait, cerebellar atrophy, and very slow progression. Several affected individuals also showed hyperreflexia and postural and action tremor of the hand, neck, and trunk. Both families originated from a northern province of Japan. Synofzik et al. (2011) reported 5 German families in which 10 patients with SCA15 presented with slowly progressive cerebellar ataxia, requiring a walker or wheelchair 15 to 17 years after onset, and vermal cerebellar atrophy. Seven of 10 patients had action and postural tremor of the hands or head, while all had intention tremor. Clinical and electrophysiological signs of extracerebellar affection, including pyramidal tract or dorsal column involvement, were mild and more variable. Two had psychiatric manifestations before onset of ataxia. Mapping In the Australian kindred with SCA15 reported by Storey et al. (2001), Knight et al. (2003) found linkage to an 11.6-cM region flanked by markers D3S3630 and D3S1304 on chromosome 3pter-p24.2 (maximum multipoint lod score of 3.54 at D3S1560). Mutation analysis excluded the ITPR1 gene (147265) from being involved in the pathogenesis of the disorder. In 2 Japanese families with spinocerebellar ataxia, Hara et al. (2004) used genomewide linkage analysis to identify a 14.7-cM candidate region on chromosome 3p26.1-p25.3 between markers D3S1620 and D3S3691 (maximum multipoint lod score of 3.31 at D3S3728). The authors noted the overlap with the SCA15 region identified by Knight et al. (2003). Although initial studies of an affected Japanese family with SCA16 suggested linkage to chromosome 8q22.1-24.1 (Miyoshi et al., 2001), additional studies of the same family by Miura et al. (2006) showed linkage to chromosome 3pter-p26.2 (maximum 2-point lod score of 5.17 at D3S2387). Haplotype analysis delineated a 6.4-Mb region between D3S2387 and D3S3050, and linkage to chromosome 8q was definitively excluded. Molecular Genetics Van de Leemput et al. (2007) identified heterozygous deletions involving the ITPR1 gene in affected members of 3 unrelated families with autosomal dominant spinocerebellar ataxia, including the SCA15 family of Australian origin used to map the locus (Storey et al., 2001; Knight et al., 2003). Using high-density genomewide SNP genotyping, Van de Leemput et al. (2007) identified a large deletion removing the first 3 exons of the SUMF1 gene (607939) and the first 10 exons of the ITPR1 gene in the family reported by Knight et al. (2003). Affected members of 2 additional families were found to have even larger deletions removing exons 1-44 and 1-40 of the ITPR1 gene, respectively. As homozygous mutations in the SUMF1 gene lead to a different phenotype (MSD; 272200) and heterozygous carriers of SUMF1 mutations do not exhibit a movement disorder, the authors concluded that deletions of the ITPR1 gene underlie the ataxia phenotype. Van de Leemput et al. (2007) noted that direct gene sequencing failed to identify mutations in the ITPR1 gene and that gene dosage studies were required for accurate diagnosis. In affected members of a large Japanese family with autosomal dominant spinocerebellar ataxia reported by Miyoshi et al. (2001) and Miura et al. (2006), Iwaki et al. (2008) identified a heterozygous deletion of exons 1 to 48 of the ITPR1 gene (147265.0001). The SUMF1 gene was not affected. The findings indicated that SCA15 and SCA16 are the same disorder, due to haploinsufficiency of ITPR1. In affected members of a Japanese family with SCA15 originally reported by Hara et al. (2004), Hara et al. (2008) identified a 414-kb deletion of chromosome 3p26 including all of the ITPR1 gene and exon 1 of the SUMF1 gene. Breakpoint analysis indicated that the deletion was mediated by nonhomologous end joining. RT-PCR showed that expression levels of both ITPR1 and SUMF1 in the patients were half of levels in normal controls. In affected members of a second unrelated Japanese family reported by Hara et al. (2004), Hara et al. (2008) identified a heterozygous mutation in the ITPR1 gene (147265.0002). Synofzik et al. (2011) identified pathogenic ITPR1 deletions in 5 (8.9%) of 56 German families with autosomal dominant SCA who were negative for common SCA repeat expansions. All deletions detected by multiplex ligation-dependent probe amplification (MLPA) were confirmed by SNP array and spanned approximately 183 to 423 kb, and each family had a unique deletion. In 3 families, the deletions affected partly both the ITPR1 and SUMF1 genes, without including the 3-prime region of the ITPR1 gene. One family had a deletion preserving exons 1 and 2 in the 5-prime untranslated region of the ITPR1 gene. Marelli et al. (2011) identified ITPR1 deletions in 6 (1.8%) of 333 families of European origin with autosomal dominant SCA who were negative for common SCA repeat expansions. In 3 families, the deletion included ITPR1 and SUMF1; in 1 family, the deletion included ITPR1, SUMF1, and SETMAR (609834); and in 2 families, the deletion was limited to ITPR1. Most presented with cerebellar gait ataxia and later developed ocular movement abnormalities and dysarthria. Two patients from 1 family had pyramidal signs, 2 additional patients from another family showed some executive decline, and some patients reported dysphagia. Population Genetics Based on their finding of SCA15 in 5 (8.9%) of 56 German families with unexplained SCAs, Synofzik et al. (2011) noted that SCA15 is the most common non-trinucleotide repeat SCA in Central Europe. Animal Model Van de Leemput et al. (2007) identified a spontaneous 18-bp deletion in exon 18 of the Itpr1 gene that caused a recessive movement disorder in mice. The deletion mutation resulted in markedly decreased levels of Itpr1 in cerebellar Purkinje cells. INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Dysmetric saccades \- Nystagmus, horizontal, gaze-evoked \- Impaired smooth pursuit NEUROLOGIC Central Nervous System \- Cerebellar ataxia \- Gait ataxia \- Limb ataxia \- Truncal ataxia \- Dysarthria \- Scanning speech \- Hyperreflexia \- Action tremor \- Postural tremor \- Hyperreflexia \- Cerebellar atrophy MISCELLANEOUS \- Wide range of onset from childhood to adult (10 to 50 years) \- Very slow progression \- Most patients remain ambulatory \- Genetic heterogeneity, see SCA1 ( 164400 ) MOLECULAR BASIS \- Caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (ITPR1, 147265 ) ▲ 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 15	c1847725	29,306	omim	https://www.omim.org/entry/606658	2019-09-22T16:10:16	{"doid": ["0050965"], "mesh": ["C564685"], "omim": ["606658"], "orphanet": ["98769", "98770"], "synonyms": ["Alternative titles", "SPINOCEREBELLAR ATAXIA 16, FORMERLY", "SCA15/16"], "genereviews": ["NBK1362"]}
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachimetacarpalia. [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	Rhizomelic dysplasia, Patterson-Lowry type	c1832359	29,307	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2831	2021-01-23T17:11:41	{"gard": ["4703"], "mesh": ["C537609"], "omim": ["601438"], "umls": ["C1832359"], "icd-10": ["Q78.8"]}
Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and 'autistic-like' features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive 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	Corpus callosum agenesis-neuronopathy syndrome	c0795950	29,308	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1496	2021-01-23T18:07:08	{"gard": ["1537"], "mesh": ["C536446"], "omim": ["218000"], "umls": ["C0795950"], "icd-10": ["G60.0"], "synonyms": ["Andermann syndrome", "Charlevoix disease"]}
## Summary ### Clinical characteristics. Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low cerebrospinal fluid (CSF) asparagine level can help the clinician in differentiating this disorder from others. In most cases age of onset of apnea, excessive irritability, and seizures is soon after birth. Affected individuals typically do not acquire any developmental milestones. Spastic quadriplegia can lead to severe contractures of the limbs and neurogenic scoliosis. Feeding difficulties (gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination) are a significant problem in most affected individuals. A majority have cortical blindness. MRI findings are nonspecific but may include generalized atrophy and simplified gyral pattern. ### Diagnosis. The diagnosis of ASD is established in a proband by identification of biallelic pathogenic variants in ASNS on molecular genetic testing. ### Management. Treatment of manifestations: Antispastic medication (baclofen, tizanidine, and/or Botox® injection) for spasticity; clonazepam for hyperekplexia; mechanical ventilation may be required for apnea; nasogastric or gastrostomy tube to support nutrition; standard treatment for seizures, hearing loss, gastroesophageal reflux disease, constipation, and kyphosis/scoliosis; supportive developmental therapies. Prevention of secondary complications: Regular immunization to prevent life-threatening infections. Surveillance * At each visit: evaluation of developmental progress and growth; assessment for progression of spasticity, contractures, and scoliosis/kyphosis. * Every six months: assessment of nutritional status through serum total protein, albumin, and prealbumin levels. * Annually: ophthalmologic evaluation. * As needed: EEG if there are concerns for new-onset seizure activity or progression of seizures; audiologic evaluation if there are concerns for hearing loss. ### Genetic counseling. Asparagine synthetase deficiency is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk are possible if the ASNS pathogenic variants in the family are known. ## Diagnosis ### Suggestive Findings Asparagine synthetase deficiency (ASD) should be suspected in individuals with the following clinical features, brain MRI findings, and supportive laboratory findings. Clinical features * Congenital and progressive microcephaly * Severe global developmental delay * Hypotonia followed by spastic quadriplegia, seizures, jitteriness, and hyperekplexia * Intrauterine growth restriction with subsequent feeding difficulties, failure to thrive, and short stature * Cortical blindness Brain MRI findings * Generalized brain atrophy (100%) * Simplified gyral pattern (81%) * Cerebellar vermis hypoplasia (41%) Supportive laboratory findings * CSF asparagine level is typically low or not detected [Alfadhel et al 2015, Yamamoto et al 2017]. * Plasma asparagine level is low in about half of affected individuals and is not as sensitive as CSF asparagine levels in supporting this diagnosis. * The following are unremarkable: * Plasma acylcarnitine profile * Creatine kinase (CK) level * Total homocysteine, lactic acid, and ammonia levels * Urine organic acids ### Establishing the Diagnosis The diagnosis of ASD is established in a proband by identification of biallelic pathogenic variants in ASNS on molecular genetic testing (see Table 1). Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing. * Single-gene testing. Sequence analysis of ASNS is performed first and followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found. * A multigene panel that includes ASNS and other genes of interest (see Differential Diagnosis) may be considered. 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. * More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation). 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 Asparagine Synthetase Deficiency View in own window Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method ASNSSequence analysis 322/22 4 Gene-targeted deletion/duplication analysis 5None reported 6 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. 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\. Ruzzo et al [2013], Alfadhel et al [2015], Ben-Salem et al [2015], Palmer et al [2015], Gataullina et al [2016], Seidahmed et al [2016], Gupta et al [2017], Sun et al [2017], Yamamoto et al [2017] 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\. Gene-targeted deletion/duplication analysis has not identified any pathogenic variants to date. ## Clinical Characteristics ### Clinical Description Asparagine synthetase deficiency (ASD) mainly presents as a triad of congenital microcephaly, severe developmental delay, and axial hypotonia followed by spastic quadriplegia. Low CSF asparagine level can help differentiate this disorder from others with similar clinical findings [Ruzzo et al 2013, Alfadhel et al 2015, Ben-Salem et al 2015]. Age of onset is soon after birth in the majority of reported individuals (median age of onset: 1 day; range 1 day – 9 months). Only three cases have presented after the neonatal period [Ruzzo et al 2013, Sacharow et al 2018]. Two neonates presented prenatally with microcephaly detected by antenatal ultrasound [Seidahmed et al 2016, Yamamoto et al 2017]. The common clinical manifestations summarized in Table 2 are discussed below the table. ### Table 2. Clinical Manifestations of 22 Individuals with Asparagine Synthetase Deficiency View in own window Clinical ManifestationsFrequency (%) Neonatal onset 117/18 (95%) Severe global developmental delay22/22 (100%) Congenital & progressive microcephaly 222/22 (100%) Hyperreflexia22/22 (100%) Axial hypotonia followed by spastic quadriplegia21/22 (95%) Seizures16/22 (73%) Jitteriness13/15 (87%) Cortical blindness13/22 (60%) Hyperekplexia7/22 (32%) 1\. Congenital microcephaly, apnea, excessive irritability, and seizures 2\. Head circumference is often -2 standard deviations (SD) at birth but may decline to -9 SD by early childhood. Neurologic. All affected individuals reported have the following: * Congenital microcephaly, ranging between 26.5 and 33.4 cm (-1 SD to -4 SD) * Severe global developmental delay with no acquisition of developmental milestones [Ruzzo et al 2013, Alfadhel et al 2015] * Axial hypotonia followed by spastic quadriplegia [Seidahmed et al 2016] leading to severe contractures of all limbs and neurogenic scoliosis Seizures usually start in the neonatal period and mimic pyridoxine-dependent epilepsy [Gataullina et al 2016]. * The type of seizure is not specific and can include the following [Ruzzo et al 2013, Alfadhel et al 2015, Seidahmed et al 2016, Gupta et al 2017, Sun et al 2017, Yamamoto et al 2017]: * Generalized tonic-clonic (64%) * Myoclonic (50%) * Tonic (50%) * Partial complex seizure (21%) * Spasms (15%) that are refractory to antiepileptic medications * EEG abnormalities are nonspecific [Ruzzo et al 2013, Alfadhel et al 2015, Ben-Salem et al 2015, Palmer et al 2015, Gataullina et al 2016, Gupta et al 2017, Yamamoto et al 2017]: * Multiple independent spike foci most commonly (65%) * Burst suppression * Hypsarrhythmia * Discontinuous EEG pattern * Jitteriness and hyperekplexia are present in 78% and 35% of reported individuals, respectively. Brain MRI findings. The most common features are summarized in Suggestive Findings; other reported abnormalities (in <80%) include the following [Ruzzo et al 2013, Ben-Salem et al 2015, Gataullina et al 2016, Sun et al 2017]: * Delayed myelination (68%) * Small pons * Thin corpus callosum (55%) * Enlarged ventricular system (50%) * Left transverse sinus thrombosis and cerebral dysgenesis * Blake's cyst and/or arachnoid cyst * Bilateral caudate atrophy * Increased lactate peak on MR spectroscopy in four individuals studied [Ruzzo et al 2013, Palmer et al 2015] Note: CSF asparagine level was normal in one reported individual [Seidahmed et al 2016]. Nonspecific dysmorphic facial features reported in approximately 50% of affected individuals include brachycephaly, pear-like head shape, sloping forehead, widely spaced eyes, big fleshy ears, prominent nasal tip, and micrognathia. Gastrointestinal manifestations. Feeding difficulties are a major problem for most affected individuals. Contributing factors include hypotonia, gastroesophageal reflux disease, frequent vomiting, swallowing dysfunction, and gastroesophageal incoordination. Many affected individuals also have constipation. Recurrent aspiration has been reported in eight individuals. Many require nasogastric tube feeding or gastrostomy [Ruzzo et al 2013, Sun et al 2017, Yamamoto et al 2017]. Ophthalmologic. Most individuals are unable to fix and follow with their eyes. Cortical blindness is reported in 65% of affected individuals. One affected person was reported to have left convergent squint [Gupta et al 2017]. Less frequently reported manifestations include the following [Ruzzo et al 2013, Ben-Salem et al 2015, Seidahmed et al 2016, Sun et al 2017]: * Intrauterine growth restriction [Sun et al 2017] * Sensorineural hearing loss [Palmer et al 2015, Yamamoto et al 2017] * Frequent apneas necessitating mechanical ventilation, reported in nine affected individuals [Ruzzo et al 2013, Gupta et al 2017, Sun et al 2017] * Diaphragmatic eventration [Sun et al 2017] * Phrenic nerve palsy [Sun et al 2017] Prognosis. ASD is associated with a high rate of morbidity and mortality, where 50% of individuals die in the first year of life [Ruzzo et al 2013, Seidahmed et al 2016, Gupta et al 2017, Sun et al 2017]. However, because only a small cohort of affected individuals have been reported, it is possible that this represents the more severe end of a clinical spectrum. ### Genotype-Phenotype Correlations No genotype-phenotype correlations have been reported. ### Prevalence ASD has been reported in 22 individuals from 14 families to date. Consanguinity was reported in 50% of families. Affected individuals from Saudi Arabia, United Arab Emirates, Canada, France, Japan, and India have been reported [Ruzzo et al 2013, Alfadhel et al 2015, Ben-Salem et al 2015, Palmer et al 2015, Gataullina et al 2016, Seidahmed et al 2016, Gupta et al 2017, Sun et al 2017, Yamamoto et al 2017]. ## Differential Diagnosis The differential diagnosis of ASD is wide, and the cardinal features of spastic quadriplegia, microcephaly, and low asparagine level can aid clinicians in differentiating this disorder from the other related disorders. Note: Many chromosomal disorders present with features that overlap with asparagine synthetase deficiency; therefore, a chromosomal microarray could be considered. ### Table 3. Differential Diagnosis of Asparagine Synthetase Deficiency (ASD) View in own window Phenotype/ DisorderGene(s) / Genetic MechanismMOIClinical Features of the Phenotype/Disorder Overlapping w/ASDDistinguishing from ASD Primary autosomal recessive microcephaliesMultiple genes (see OMIM PS251200)ARNo malformations in other organ systems * Normal CSF asparagine level * No spastic quadriplegia Seckel syndromeATR CENPJ CEP152 CEP63 RBBP8 DNA2 NIN NSMCE2 TRAIPAR * Intrauterine growth restriction * Sloping forehead * Short stature * Normal CSF asparagine level * No spastic quadriplegia Lissencephaly-pachygyria 1Multiple genes (see OMIM PS607432)AR AD XL * Cerebellar hypoplasia * Simplified gyral pattern * Spastic quadriplegia * Lissencephaly & generalized polymicrogyria * Normal CSF asparagine level Miller-Dieker syndrome (see PAFAH1B1-Associated Lissencephaly / Subcortical Band Heterotopia)17p13.3 deletion LIS1 (PAFAH1B1) YWHAEAD * Hypotonia * Global DD * Spastic quadriplegia * Lissencephaly * Dysmorphic features * Normal CSF asparagine level Smith-Lemli-Opitz syndromeDHCR7ARGlobal DD * Prenatal & postnatal growth restriction * Dysmorphic features * Syndactyly of 2nd & 3rd toes * Postaxial polydactyly * Congenital heart defect * Hypospadias in males * No spastic quadriplegia * Low total cholesterol w/↑ 7-dehydrocholesterol Cornelia de Lange syndromeHDAC8 NIPBL RAD21 SMC1A SMC3AD XL * Growth restriction * DD * Spastic quadriplegia * Distinctive facial features * Hirsutism * Upper-limb reduction defects ranging from subtle phalangeal abnormalities to oligodactyly Serine biosynthesis defects (OMIM 601815, 610992, 614023)PHGDH PSAT1 PSPHAR * Neonatal seizure * Global DD * Spastic quadriplegia * Low CSF serine & glycine level * Cataract * Nystagmus Congenital disorders of N-linked glycosylationMultiple genes (see OMIM PS212065)AR XL * Neonatal seizure * Failure to thrive * Hypotonia * DD * Spastic quadriplegia * Cerebellar hypoplasia * Hepatopathy * Hypoglycemia * Protein-losing enteropathy * Eye abnormalities * Immunologic findings * Skin abnormalities * Skeletal findings * Abnormal TIF Early-infantile epileptic encephalopathy type 28WWOXAR * Congenital microcephaly * Severe DD * Hypotonia * Spastic quadriplegia * Thin corpus callosum * Delayed myelination Normal blood & CSF asparagine level AD = autosomal dominant; AR = autosomal recessive; CSF = cerebrospinal fluid; DD = developmental delay; MOI = mode of inheritance; TIF = transferrin isoelectrofocusing; XL = X-linked 1\. Lissencephaly-pachygyria spectrum of cortical malformation is characterized by smooth cortex with simplified gyration appearance. "Lissencephaly" refers to a brain without sulci. Pachygyria (focal or diffuse) is a mild expression of lissencephaly in which sulci are shallow and reduced in number. ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with asparagine synthetase deficiency (ASD), the following evaluations are recommended if they have not already been completed. ### Table 4. Recommended Evaluations Following Initial Diagnosis of Asparagine Synthetase Deficiency View in own window System/ConcernEvaluationComments NeurologicBrain MRI to evaluate extent of diseaseConsider neurologic consultation. EEGIf seizures are suspected OcularOphthalmologic evaluationConsider visual evoked potential. ENTAudiologic evaluation Gastrointestinal/ FeedingAssessment of growth parameters to identify those w/failure to thrive Assessment for feeding problems incl difficulty w/sucking, swallowing, & GERDReferral to feeding therapist if feeding problems identified MusculoskeletalClinical evaluation for scoliosis &/or kyphosisConsider radiographic scoliosis survey (x-rays of the spine) based on clinical suspicion; consider referral to orthopedist if scoliosis is present. OtherDevelopmental assessmentTo provide a baseline level of functioning & recommendations for services (speech, occupational, physical therapy) Consider referral to clinical geneticist &/or genetic counselor. GERD = gastroesophageal reflux ### Treatment of Manifestations The management of ASD requires a multidisciplinary team approach; treatment is primarily supportive. Note: Asparagine supplementation has not been effective and actually exacerbated seizures in affected individuals [Alrifai & Alfadhel 2016]. ### Table 5. Treatment of Manifestations in Individuals with Asparagine Synthetase Deficiency View in own window Manifestation/ConcernTreatmentComments SeizuresStandard treatment w/antiepileptic drugs Spastic quadriplegiaAntispastic drugs (e.g., baclofen, tizanidine) &/or Botox® injection HyperekplexiaClonazepam appears to be the most effective treatment. Hearing lossHearing aidsSee Hereditary Hearing Loss and Deafness Overview. ApneaMechanical ventilation may be required. Inadequate nutrition / Feeding difficultiesNasogastric tube or gastrostomy tube is frequently required. Gastroesophageal reflux (GERD)Standard pharmacologic treatmentFor severe GERD: consider Nissen fundoplication at the time of gastrostomy tube placement. ConstipationStandard treatment Kyphosis/ScoliosisStandard treatment as recommended by orthopedist #### Gross Motor Dysfunction Physical therapy is recommended to maximize mobility and to reduce the risk for later-onset orthopedic complications (e.g., contractures, scoliosis, hip dislocation). Consider use of durable medical equipment as needed (e.g., wheelchairs, walkers, bath chairs, orthotics, adaptive strollers). For muscle tone abnormalities including hypertonia, consider involving appropriate specialists to aid in management of baclofen, Botox®, or orthopedic procedures. #### Developmental Delay / Intellectual Disability Management Issues 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. 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. 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. ### Prevention of Secondary Complications Regular immunization to prevent life-threatening infections is indicated. ### Surveillance ### Table 6. Recommended Surveillance for Individuals with Asparagine Synthetase Deficiency View in own window System/ConcernEvaluationFrequency NeurologicAssessment of developmental progressAt each visit Assessment for progression of spasticity & contracturesAt each visit EEGIf concerns for new seizure activity or progression of seizures OcularOphthalmologic evaluationAnnually HearingAudiologic evaluationIf concern for hearing loss Gastrointestinal/ FeedingMeasurement of growth parametersAt each visit Evaluation of nutritional status 1Every 6 mos MusculoskeletalClinical assessment for scoliosis/kyphosisAt each visit 1\. Serum total protein, albumin, and prealbumin 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 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	Asparagine Synthetase Deficiency	c3809971	29,309	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK525916/	2021-01-18T21:42:38	{"synonyms": ["ASNS Deficiency"]}
Microcephaly is a rare neurological condition in which a person's head is significantly smaller than expected based on standardized charts. Some cases of microcephaly are detected at birth, while others develop in the first few years of life. Some children with microcephaly have normal intelligence and development. However, microcephaly can be associated with seizures; developmental delay; intellectual disability; problems with movement and balance; feeding difficulties; hearing loss; and/or vision problems depending on the severity of the condition. Because the growth of the skull is determined by brain growth, the condition often occurs when the brain fails to grow at a normal rate. This may be caused by a variety of genetic abnormalities; exposure to certain viruses (i.e. rubella, toxoplasmosis, and cytomegalovirus), drugs, alcohol, or toxic chemicals during pregnancy; untreated maternal PKU during pregnancy; and/or severe malnutrition during pregnancy. Although there is no treatment for microcephaly, early intervention may help enhance development and improve quality of life. [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	c0025958	29,310	gard	https://rarediseases.info.nih.gov/diseases/3603/microcephaly	2021-01-18T17:59:05	{"mesh": ["D008831"], "umls": ["C0025958"], "synonyms": []}
By in situ hybridization, with a restriction fragment of satellite DNA III, Gosden et al. (1981) assigned satellite DNA III to the heterochromatic region of chromosome 1 (1qh). Satellite III DNA has also been located by in situ hybridization on chromosomes 3-5, 7, 9, 10, 13-18, 20-22, and Y. In the acrocentric chromosomes, satellite DNA, which is separate from that which codes for ribosomal RNA, is located on the short arm between the centromere and the nucleolus organizing region (NOR). Gosden et al. (1981) found that in most dicentric Robertsonian translocations, the amount of satellite DNA is less than in the normal homologs, but rarely is it completely absent, indicating that the satellite DNA is indeed between the centromere and the NOR and that the breakpoints are within satellite DNA. Acrocentric chromosomes with large short arms generally had more satellite DNA than those with small short arms. [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	DNA, SATELLITE, III	c1852044	29,311	omim	https://www.omim.org/entry/126370	2019-09-22T16:42:14	{"omim": ["126370"]}
Moron is a term once used in psychology and psychiatry to denote mild intellectual disability.[1] The term was closely tied with the American eugenics movement.[2] Once the term became popularized, it fell out of use by the psychological community, as it was used more commonly as an insult than as a psychological term. It is similar to imbecile and idiot.[3] ## Origin and uses "Moron" was coined in 1910 by psychologist Henry H. Goddard[4] from the Ancient Greek word μωρός (moros), which meant "dull"[5] and used to describe a person with a mental age in adulthood of between 7 and 10 on the Binet scale.[6] It was once applied to people with an IQ of 51–70, being superior in one degree to "imbecile" (IQ of 26–50) and superior in two degrees to "idiot" (IQ of 0–25). The word moron, along with others including, "idiotic", "imbecilic", "stupid", and "feeble-minded", was formerly considered a valid descriptor in the psychological community, but it is now deprecated in use by psychologists.[7] In the obsolete medical classification (ICD-9, 1977), these people (morons and feeble-minded) were said to have "mild mental retardation", "mild mental subnormality" or "high-grade defect" with IQ 50–70.[8] Following opposition to Goddard's attempts to popularize his ideas,[9] Goddard recanted his earlier assertions about the moron: "It may still be objected that moron parents are likely to have imbecile or idiot children. There is not much evidence that this is the case. The danger is probably negligible."[10] ## See also * Euphemism treadmill ## References 1. ^ Rafter, Nicole Hahn (1998). Creating Born Criminals. University of Illinois Press, ISBN 978-0-252-06741-9 2. ^ Black, Edwin (2004). War Against the Weak: Eugenics and America's Campaign to Create a Master Race. Thunder's Mouth Press, ISBN 978-1-56858-321-1 3. ^ "The Clinical History of 'Moron,' 'Idiot,' and 'Imbecile'". merriam-webster.com. 4. ^ Trent, James W. Jr. (2017). Inventing the Feeble Mind: A History of Intellectual Disability in the United States. Oxford University Press, ISBN 978-0199396184 5. ^ μωρός, Henry George Liddell, Robert Scott, A Greek–English Lexicon, on Perseus Digital Library 6. ^ Zaretsky, Herbert H.; Richter, Edwin F.; Eisenberg, Myron G. (2005), Medical aspects of disability: a handbook for the rehabilitation professional (third edition, illustrated ed.), Springer Publishing Company, p. 346, ISBN 978-0-8261-7973-9. 7. ^ Zenderland, Leila (2001). Measuring Minds: Henry Herbert Goddard and the Origins of American Intelligence Testing. Cambridge University Press, ISBN 978-0-521-00363-6 8. ^ World Health Organization (1977). Manual of the International Statistical Classification of Diseases, Injuries, and Causes of Death (PDF). Vol. 1. Jeneva. p. 212. 9. ^ Goddard, Henry H. Who Is a Moron? The Scientific Monthly, Volume 24, Issue 1, pp. 41–46. 10. ^ Chase, Allan (1977). The Legacy of Malthus: The Social Costs of the New Scientific Racism. Knopf/Random House, ISBN 978-0-394-48045-9 [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	Moron (psychology)	None	29,312	wikipedia	https://en.wikipedia.org/wiki/Moron_(psychology)	2021-01-18T18:49:12	{"wikidata": ["Q2620524"]}
Benjamins and Stibbe (1926, 1927) described a Dutch family in which 6 males and 8 females in 2 generations showed a 'potato nose.' Nieuwenhuijse (1944) extended the pedigree of Benjamins and Stibbe (1927). Toriello et al. (1985) suggested that potato nose and bifid nose (210400) are merger defects of the medial nasal processes and probably different expressions of the same 'developmental field defect.' The lack of hypertelorism is witness to the fundamental distinction between these phenotypes and frontonasal dysplasia (136760). Toriello et al. (1985) reported a family which could represent autosomal recessive inheritance of a malformation in the potato nose/bifid nose category. The propositus, product of a consanguineous marriage, had wide nose and philtrum, as did 2 distant relatives. The kindred was of Dutch extraction. Nose \- Potato nose 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	NOSE, ANOMALOUS SHAPE OF	c1834118	29,313	omim	https://www.omim.org/entry/164000	2019-09-22T16:37:20	{"mesh": ["C538354"], "omim": ["164000"], "synonyms": ["Alternative titles", "POTATO NOSE"]}
Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men. Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. In one type, known as MSA-P, a group of movement abnormalities called parkinsonism are predominant. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes problems with coordination and balance. This form of the condition can also include speech difficulties (dysarthria) and problems controlling eye movement. Multiple system atrophy usually occurs in older adults; on average, signs and symptoms appear around age 55. The condition worsens with time, and affected individuals survive an average of 10 years after the signs and symptoms first appear. ## Frequency Multiple system atrophy has a prevalence of 2 to 5 per 100,000 people. ## Causes Multiple system atrophy is a complex condition that is likely caused by the interaction of multiple genetic, environmental, and lifestyle factors. Some of these factors have been identified, but many remain unknown. Changes in several genes are being studied as possible risk factors for multiple system atrophy. The genetic risk factors with the most evidence are variants in the SNCA and COQ2 genes. The SNCA gene provides instructions for making a protein called alpha-synuclein, which is abundant in normal brain cells but whose function is unknown. Studies suggest that several common variations in the SNCA gene are associated with an increased risk of multiple system atrophy in people of European descent. It is unclear whether these variations also affect disease risk in other populations. The COQ2 gene provides instructions for making a protein called coenzyme Q2. This enzyme carries out one step in the production of a molecule called coenzyme Q10, which has a critical role in energy production within cells. Variations in the COQ2 gene have been associated with multiple system atrophy in people of Japanese descent, but this association has not been found in other populations. It is unclear how changes in the SNCA or COQ2 gene increase the risk of developing multiple system atrophy. Researchers have also examined environmental factors that could contribute to the risk of multiple system atrophy. Initial studies suggested that exposure to solvents, certain types of plastic or metal, and other potential toxins might be associated with the condition. However, these associations have not been confirmed. In all cases, multiple system atrophy is characterized by clumps of abnormal alpha-synuclein protein that, for unknown reasons, build up in cells in many parts of the brain and spinal cord. Over time, these clumps (which are known as inclusions) damage cells in parts of the nervous system that control movement, balance and coordination, and autonomic functioning. The progressive loss of cells in these regions underlies the major features of multiple system atrophy. ### Learn more about the genes associated with Multiple system atrophy * COQ2 * SNCA ## Inheritance Pattern Most cases of multiple system atrophy are sporadic, which means they occur in people with no history of the disorder in their family. Rarely, the condition has been reported to run in families; however, it usually does not have a clear pattern of inheritance. [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	Multiple system atrophy	c0393911	29,314	medlineplus	https://medlineplus.gov/genetics/condition/multiple-system-atrophy/	2021-01-27T08:24:58	{"gard": ["7079", "7250"], "mesh": ["D054970"], "omim": ["146500"], "synonyms": []}
Jackson-Weiss syndrome is a genetic disorder characterized by foot abnormalities and the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many of the characteristic facial features of Jackson-Weiss syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to a misshapen skull, widely spaced eyes, and a bulging forehead. Foot abnormalities are the most consistent features of Jackson-Weiss syndrome. The first (big) toes are short and wide, and they bend away from the other toes. Additionally, the bones of some toes may be fused together (syndactyly) or abnormally shaped. The hands are almost always normal. Some individuals with Jackson-Weiss syndrome have hearing impairment. People with Jackson-Weiss syndrome usually have normal intelligence and a normal life span. ## Frequency Jackson-Weiss syndrome is a rare genetic disorder; its incidence is unknown. ## Causes Mutations in the FGFR2 gene cause Jackson-Weiss syndrome. This gene provides instructions for making a protein called fibroblast growth factor receptor 2. Among its multiple functions, this protein signals immature cells to become bone cells during embryonic development. A mutation in a specific part of the FGFR2 gene overstimulates signaling by the FGFR2 protein, which promotes the premature fusion of skull bones and affects the development of bones in the feet. ### Learn more about the gene associated with Jackson-Weiss syndrome * FGFR2 ## 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	Jackson-Weiss syndrome	c0795998	29,315	medlineplus	https://medlineplus.gov/genetics/condition/jackson-weiss-syndrome/	2021-01-27T08:25:29	{"gard": ["6796"], "mesh": ["C537559"], "omim": ["123150"], "synonyms": []}
Enteroinvasive Escherichia coli SpecialtyInfectious disease Enteroinvasive Escherichia coli (EIEC) is a type of pathogenic bacteria whose infection causes a syndrome that is identical to shigellosis, with profuse diarrhea and high fever. EIEC are highly invasive, and they use adhesin proteins to bind to and enter intestinal cells. They produce no toxins, but severely damage the intestinal wall through mechanical cell destruction. It is closely related to Shigella.[1][2] After the E. coli strain penetrates through the epithelial wall, the endocytosis vacuole gets lysed, the strain multiplies using the host cell machinery, and extends to the adjacent epithelial cell. In addition, the plasmid of the strain carries genes for a type III secretion system that is used as the virulent factor. Although it is an invasive disease, the invasion usually does not pass the submucosal layer. The similar pathology to shigellosis may be because both strains of bacteria share some virulent factors. The invasion of the cells can trigger a mild form of diarrhea or dysentery, often mistaken for dysentery caused by Shigella species. The illness is characterized by the appearance of blood and mucus in the stools of infected individuals or a condition called colitis. Dysentery caused by EIEC usually occurs within 12 to 72 hours following the ingestion of contaminated food. The illness is characterized by abdominal cramps, diarrhea, vomiting, fever, chills, and a generalized malaise. Dysentery caused by this organism is generally self-limiting with no known complications.[3] Enterovirulent classes of E. coli are referred to as the EEC group (enterovirulent E. coli): 1. Enteroinvasive E. coli (EIEC) invades (passes into) the intestinal wall to produce severe diarrhea. 2. Enterohemorrhagic E. coli (EHEC): A type of EHEC, E. coli O157:H7, can cause bloody diarrhea and hemolytic uremic syndrome (anemia and kidney failure). 3. Enterotoxigenic E. coli (ETEC) produces a toxin that acts on the intestinal lining, and is the most common cause of traveler's diarrhea. 4. Enteropathogenic E. coli (EPEC) can cause diarrhea outbreaks in newborn nurseries. 5. Enteroaggregative E. coli (EAggEC) can cause acute and chronic (long-lasting) diarrhea in children. It is currently unknown what foods may harbor EIEC, but any food contaminated with human feces from an ill individual, either directly or via contaminated water, could cause disease in others. Outbreaks have been associated with hamburger meat and unpasteurized milk.[4] ## See also[edit] * Sereny test ## References[edit] 1. ^ Lan R, Alles MC, Donohoe K, Martinez MB, Reeves PR (September 2004). "Molecular evolutionary relationships of enteroinvasive Escherichia coli and Shigella spp". Infect. Immun. 72 (9): 5080–8. doi:10.1128/IAI.72.9.5080-5088.2004. PMC 517479. PMID 15322001. 2. ^ Rolland K, Lambert-Zechovsky N, Picard B, Denamur E (September 1998). "Shigella and enteroinvasive Escherichia coli strains are derived from distinct ancestral strains of E. coli". Microbiology. 144. (Pt 9) (9): 2667–72. doi:10.1099/00221287-144-9-2667. PMID 9782516. 3. ^ "Bad Bug Book: Handbook of Foodborne Pathogenic Microorganisms and Natural Toxins (PDF)" (PDF). Food and Drug Administration. Retrieved June 8, 2015. 4. ^ Escherichia coli, enteroinvasive Material Data Safety Sheets ## External links[edit] Classification D * ICD-10: A04.2 * ICD-9-CM: 008.03 * v * t * e Escherichia coli Outbreaks * 1993 Jack in the Box * 1996 Odwalla * 2000 Walkerton * 2005 South Wales (O157) * 2006 North American (spinach; O157:H7) * 2006 North American (multiple; O157:H7) * 2009 United Kingdom * 2011 Germany (O104:H4) * 2015 United States Genes * CPS operon * DnaG * Fis * FNR regulon * OmpT * RecBCD * RpoE * RpoF * RpoN * RpoS Strains * Enterohemorrhagic * Enteroinvasive * Enterotoxigenic * O104:H21 * O104:H4 * O121 * O157:H7 * Verotoxin-producing Related * Aerobactin * Coliform index * Long-term evolution experiment * EcoCyc * Enteroaggregative * Molecular biology * Hok/sok system * LacUV5 * Min System * Pathogenic * EnvZ/OmpR * Rho factor * T4 rII system * Theodor Escherich * 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 [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	Enteroinvasive Escherichia coli	None	29,316	wikipedia	https://en.wikipedia.org/wiki/Enteroinvasive_Escherichia_coli	2021-01-18T19:07:56	{"icd-9": ["008.03"], "icd-10": ["A04.2"], "wikidata": ["Q5380236"]}
Intranodal palisaded myofibroblastoma Micrograph of an intranodal palisaded myofibroblastoma. H&E stain. SpecialtyOncology Intranodal palisaded myofibroblastoma (IPM) is a rare primary tumour of lymph nodes, that classically presents as an inguinal mass.[1] It afflicts predominantly males of middle age. ## Contents * 1 Signs and symptoms * 2 Diagnosis * 3 Treatment * 4 See also * 5 References ## Signs and symptoms[edit] IPMs present as painless lymphadenopathy.[1] They usually are found in the inguinal region and grow slowly. The signs and symptoms are non-specific, i.e. it is not possible to diagnose an IPM from the symptoms and manner in which they present. The main (clinical) differential diagnosis of IPM is metastatic cancer, e.g. squamous cell carcinoma, malignant melanoma, adenocarcinoma. ## Diagnosis[edit] IPMs are diagnosed by examination of the tissue by a pathologist. They have a rim of peripheral lymphoid tissue (remnant of a lymph node) and consist of spindle cells with nuclear palisading. Red blood cell extravasation is common and blood vessels surrounded by collagen with (fine) peripheral spokes (amianthoid fibers) are usually seen.[2] Immunostains for smooth muscle actin and cyclin D1 are characteristically positive. The main histologic differential diagnosis is schwannoma. * Low mag. * High mag. ## Treatment[edit] Simple surgical excision is considered curative. Rare recurrences have been reported.[3] ## See also[edit] * Schwannoma ## References[edit] 1. ^ a b Nguyen, T.; Eltorky, MA. (Feb 2007). "Intranodal palisaded myofibroblastoma". Arch Pathol Lab Med. 131 (2): 306–10. doi:10.1043/1543-2165(2007)131[306:IPM]2.0.CO;2 (inactive 2021-01-10). PMID 17284119.CS1 maint: DOI inactive as of January 2021 (link) 2. ^ Bigotti, G.; Coli, A.; Mottolese, M.; Di Filippo, F. (Sep 1991). "Selective location of palisaded myofibroblastoma with amianthoid fibres". J Clin Pathol. 44 (9): 761–4. doi:10.1136/jcp.44.9.761. PMC 496726. PMID 1918406. 3. ^ Creager, AJ.; Garwacki, CP. (May 1999). "Recurrent intranodal palisaded myofibroblastoma with metaplastic bone formation". Arch Pathol Lab Med. 123 (5): 433–6. doi:10.1043/0003-9985(1999)123<0433:RIPMWM>2.0.CO;2 (inactive 2021-01-10). PMID 10235504.CS1 maint: DOI inactive as of January 2021 (link) * v * t * e Lymphatic disease: organ and vessel diseases Thymus * Abscess * Hyperplasia * Hypoplasia * DiGeorge syndrome * Ectopic thymus * Thymoma * Thymic carcinoma Spleen * Asplenia * Asplenia with cardiovascular anomalies * Accessory spleen * Polysplenia * Wandering spleen * Splenomegaly * Banti's syndrome * Splenic infarction * Splenic tumor Lymph node * Lymphadenopathy * Generalized lymphadenopathy * Castleman's disease * Intranodal palisaded myofibroblastoma * Kikuchi disease * Tonsils * see Template:Respiratory pathology Lymphatic vessels * Lymphangitis * Lymphangiectasia * Lymphedema * Primary lymphedema * Congenital lymphedema * Lymphedema praecox * Lymphedema tarda * Lymphedema–distichiasis syndrome * Milroy's disease * Secondary lymphedema * Bullous lymphedema * Factitial lymphedema * Postinflammatory lymphedema * Postmastectomy lymphangiosarcoma * Waldmann 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	Intranodal palisaded myofibroblastoma	c1335295	29,317	wikipedia	https://en.wikipedia.org/wiki/Intranodal_palisaded_myofibroblastoma	2021-01-18T18:53:16	{"umls": ["C1335295"], "wikidata": ["Q6058489"]}
Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting. ## Epidemiology MCD1A represents 30-40% of congenital muscular dystrophies, with some regional variation. Prevalence is estimated at 1/30,000. ## Clinical description The disease presents at birth or in the first few months of life with hypotonia and muscle weakness in the limbs and trunk. Respiratory and feeding disorders can also occur. Motor development is delayed and limited (sitting or standing is only possible with help). Infants present with early rigidity of the vertebral column, scoliosis, and respiratory insufficiency. There is facial involvement with a typical elongated myopathic face and ocular ophthalmoplegia disorders can appear later. Epileptic attacks are possible, although they occur in less than a third of patients. Intellectual development is normal. ## Etiology MCD1A is caused by mutations in the LAMA2 gene coding for the alpha-2 laminin chain. ## Diagnostic methods Diagnosis is based on muscular biopsy, as merosin deficiency can be detected in the muscle and skin. MRI reveals diffuse abnormalities in brain white matter, typically sparing the corpus callosum, capsula interna and cerebellum. In the initial phase of the disease there is a four-fold increase in levels of serous creatine kinase. ## Differential diagnosis Differential diagnoses include other forms of congenital muscular dystrophy, linked particularly with glycosylation and alpha-dystroglycan anomalies, as well as congenital structural myopathies (central core disease, multi-minicore myopathy, centronuclear myopathy), of which the causative genes have been identified in the majority of cases (see these terms). ## Antenatal diagnosis Prenatal diagnosis is possible in the ninth week by chorionic villus sampling for evidence of merosin deficiency, and by evidence of mutation in the LAMA2 gene. ## Genetic counseling Transmission is autosomal recessive. Genetic counseling should be offered to families. ## Management and treatment Treatment is symptomatic. It consists of a multidisciplinary approach, including physiotherapists, occupational therapists and speech-language therapists, with the objective of optimizing each patient's abilities. Seizures or other neurological complications require specific treatment. ## Prognosis The prognosis of these muscular dystrophies is very severe as a large proportion of affected children do not reach adolescence. Currently, the prognosis can only be improved by attentive multidisciplinary (particularly orthopedic and respiratory) management. [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	Laminin subunit alpha 2-related congenital muscular dystrophy	c1263858	29,318	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=258	2021-01-23T18:24:38	{"gard": ["3843"], "mesh": ["C537384"], "omim": ["607855", "618138"], "umls": ["C1263858"], "icd-10": ["G71.2"], "synonyms": ["CMD1A", "Congenital muscular dystrophy due to laminin alpha2 deficiency", "Congenital muscular dystrophy type 1A", "MDC1A", "Merosin-negative congenital muscular dystrophy"]}
A number sign (#) is used with this entry because CD8 deficiency is caused by mutation in the CD8-alpha gene (CD8A; 186910). Clinical Features De la Calle-Martin et al. (2001) reported a 25-year-old man with a history of recurrent bacterial and viral infections since age 5 years. Immunoglobulin levels and IgG subclasses were normal, but he had total absence of CD8-positive T cells, both CD3+ and CD3- (see, e.g., 186740). Percentages and absolute numbers of CD4 (186940)-positive T cells, B cells, and natural killer (NK) cells were all normal. The patient was born from consanguineous Spanish Gypsy parents and was the fourth of 9 sibs. Two younger asymptomatic sisters also had total absence of CD8-positive T cells. Molecular Genetics In a patient with CD8-positive T cell deficiency, de la Calle-Martin et al. (2001) identified a homozygous gly90-to-ser mutation in the CD8A gene (G90S; 186910.0001). His asymptomatic sisters with absence of CD8 expression were also homozygous for the G90S mutation; the parents were heterozygous. INHERITANCE \- Autosomal recessive RESPIRATORY Lung \- Recurrent bacterial respiratory infections \- Bronchiectases IMMUNOLOGY \- Recurrent bacterial infections \- Recurrent viral infections \- Isolated absence of CD8+ T cells MISCELLANEOUS \- Onset at birth \- May be asymptomatic MOLECULAR BASIS \- Caused by mutation in the CD8 antigen, alpha polypeptide gene (CD8A, 186910.0001 ) ▲ 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	CD8 DEFICIENCY, FAMILIAL	c1837065	29,319	omim	https://www.omim.org/entry/608957	2019-09-22T16:06:53	{"mesh": ["C563824"], "omim": ["608957"], "orphanet": ["169085"]}
Posterior column ataxia - retinitis pigmentosa is characterized by the association of progressive sensory ataxia and retinitis pigmentosa. ## Epidemiology Around 20 cases have been described in the last 50 years. ## Clinical description Onset of symptoms usually occurs in childhood. The clinical picture is progressive, homogenous and includes severe sensory ataxia, proprioceptive loss (affecting the iliac crest, upper limbs and thorax), generalized areflexia and diffuse pigmentary retinopathy leading to blindness. Scoliosis, camptodactyly, achalasia and/or gastrointestinal motility dysfunction may also be present. ## Etiology The disease is associated with degeneration of the posterior column of the spinal cord. The causative gene, FLVCR1 (1q32.3), has been identified and localized to the AXPC1 locus (1q32-q31). ## Genetic counseling Transmission is autosomal recessive or pseudodominant. ## Prognosis The disease evolves progressively, in some cases leading to a total loss of walking ability and vision after 10 to 30 years of progression. [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	Posterior column ataxia-retinitis pigmentosa syndrome	c1836916	29,320	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=88628	2021-01-23T17:22:41	{"gard": ["9898"], "mesh": ["C536343"], "omim": ["609033"], "umls": ["C1836916"], "icd-10": ["G11.1"], "synonyms": ["Autosomal recessive posterior column ataxia and retinitis pigmentosa", "PCARP"]}
Posterior meningocele is a rare neural tube closure defect characterized by the herniation of a cerebrospinal fluid-filled sac, that is lined by dura and arachnoid mater, through a posterior spina bifida and covered by a layer of skin of variable thickness, which may be dysplastic or ulcerated. The spinal cord and nerves are generally not included and function normally, although sometimes a tethered cord may be associated. They are most commonly located in the lumbar or sacral region. [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	Posterior meningocele	None	29,321	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=268810	2021-01-23T17:02:31	{"icd-10": ["Q05.2", "Q05.3", "Q05.7", "Q05.8"]}
Cunningham (1960) observed testicular torsion in 3 brothers, aged 14, 15 and 21. The father and 2 other brothers had hypermobility of the testicle but had not suffered acute torsion. The anatomic peculiarity is presumably inherited and is either autosomal dominant (obviously male-limited), or Y-linked. Castilla et al. (1975) reported neonatal testicular torsion in 2 brothers. The authors favored X-linked or autosomal recessive inheritance. Collins and Broecker (1989) described a family in which a father and 3 brothers had torsion of the spermatic cord. All of 3 sons presented at the age of 16 years with acute unilateral testicular pain. The genetics in this family is not completely clear because although all 3 sons had the same mother, the affected father was the sire of only 2 of the 3. Collins and Broecker (1989) found reports of 4 families. GU \- Testicular torsion \- Hypermobility of testicle Inheritance \- Male-limited autosomal dominant vs. Y-linked ▲ 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	TESTICULAR TORSION	c0037856	29,322	omim	https://www.omim.org/entry/187400	2019-09-22T16:32:45	{"doid": ["11996"], "mesh": ["D013086"], "omim": ["187400"], "icd-9": ["608.20", "608.2"], "icd-10": ["N44.0", "N44.02", "N44.00"], "synonyms": ["Alternative titles", "TORSION OF TESTICULAR CORD"]}
A number sign (#) is used with this entry because of evidence that spermatogenic failure-22 (SPGF22) is caused by homozygous mutation in the MEIOB gene (617670) on chromosome 16p13. One such family has been reported. For a general phenotypic description and discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (258150). Clinical Features Gershoni et al. (2017) studied 4 infertile brothers from a consanguineous Muslim Israeli Arab family. Three brothers exhibited complete spermatocyte maturation arrest and azoospermia, whereas 1 brother was diagnosed as cryptozoospermic, with 2 sperm cells observed in 1 of 3 semen analyses. The number of spermatocytes with XY chromosome bivalents was extremely low, and metaphase spermatocytes were almost undetectable (2% of spermatocytes) on DAPI staining. Testicular histology showed groups of pyknotic nuclei within some tubules, reminiscent of apoptosis or necrosis. Molecular Genetics In 4 infertile brothers with nonobstructive azoospermia from a consanguineous Muslim Israeli Arab family (family A), Gershoni et al. (2017) performed whole-exome sequencing and identified homozygosity for a missense mutation in the MEIOB gene (N64I; 617670.0001) that was not found in controls. Mutation status of unaffected family members was not reported. INHERITANCE \- Autosomal recessive GENITOURINARY Internal Genitalia (Male) \- Infertility \- Azoospermia, nonobstructive \- Very low percentage of XY chromosome bivalents \- Low percentage of metaphase spermatocytes \- Pyknotic nuclei in testicular tubules MISCELLANEOUS \- Based on report of 1 family (last curated September 2017) MOLECULAR BASIS \- Caused by mutation in the meiosis-specific protein with OB domains gene (MEIOB, 617670.0001 ) ▲ 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	SPERMATOGENIC FAILURE 22	c4540179	29,323	omim	https://www.omim.org/entry/617706	2019-09-22T15:45:11	{"doid": ["0070177"], "omim": ["617706"], "orphanet": ["399805"], "synonyms": []}
Empyema SpecialtyPulmonology, Infectious disease An empyema (/ˌɛmpaɪˈiːmə/) is a collection or gathering of pus within a naturally existing anatomical cavity. For example, pleural empyema is empyema of the pleural cavity. It must be differentiated from an abscess, which is a collection of pus in a newly formed cavity. The term is from Greek ἐμπύημα, "abscess". ## Classification[edit] Empyema occurs in: * the pleural cavity (pleural empyema also known as pyothorax) * the thoracic cavity * the uterus (pyometra) * the appendix (appendicitis) * the meninges (subdural empyema) * the joints (septic arthritis) * the gallbladder ## External links[edit] Classification D * ICD-10: J86.9 * MeSH: D004653 External resources * MedlinePlus: 000123 * Shen, K. Robert; Bribriesco, Alejandro; Crabtree, Traves; Denlinger, Chad; Eby, Joshua; Eiken, Patrick; Jones, David R.; Keshavjee, Shaf; Maldonado, Fabien; Paul, Subroto; Kozower, Benjamin (February 2017). "The American Association for Thoracic Surgery consensus guidelines for the management of empyema". The Journal of Thoracic and Cardiovascular Surgery. 153 (6): e129–e146. doi:10.1016/j.jtcvs.2017.01.030. PMID 28274565. Authority control * LCCN: sh85042941 * NDL: 00573019 [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	Empyema	c0014009	29,324	wikipedia	https://en.wikipedia.org/wiki/Empyema	2021-01-18T18:31:15	{"mesh": ["D004653"], "umls": ["C0014009"], "icd-10": ["J86.9"], "wikidata": ["Q1339539"]}
In psychiatry, derailment (also loosening of association, asyndesis, asyndetic thinking, knight's move thinking, or entgleisen) is a thought disorder characterized by discourse consisting of a sequence of unrelated or only remotely related ideas. The frame of reference often changes from one sentence to the next.[1][2] In a mild manifestation, this thought disorder is characterized by slippage of ideas further and further from the point of a discussion. Derailment can often be manifestly caused by intense emotions such as euphoria or hysteria. Some of the synonyms given above (loosening of association, asyndetic thinking) are used by some authors to refer just to a loss of goal: discourse that sets off on a particular idea, wanders off and never returns to it. A related term is tangentiality—it refers to off-the-point, oblique or irrelevant answers given to questions.[1] In some studies on creativity, knight's move thinking, while it describes a similarly loose association of ideas, is not considered a mental disorder or the hallmark of one; it is sometimes used as a synonym for lateral thinking.[3][4][5] ## Examples[edit] * "The next day when I'd be going out you know, I took control, like uh, I put bleach on my hair in California."—given by Nancy C. Andreasen[6] * "I think someone's infiltrated my copies of the cases. We've got to case the joint. I don't believe in joints, but they do hold your body together."—given by Elyn Saks.[7] * "I have choose right over wrong. When there are two options, I have to look to the right. I can choose left or right, but always look right."—patient interview, Mayo Clinic. ## History[edit] Entgleisen (derailment in German) was first used with this meaning by Carl Schneider in 1930.[2] The term asyndesis was introduced by N. Cameron in 1938, while loosening of association was introduced by A. Bleuler in 1950.[8] The phrase knight's move thinking was first used in the context of pathological thinking by the psychologist Peter McKellar in 1957, who hypothesized that individuals with schizophrenia fail to suppress divergent associations.[3] Derailment was used with this meaning by Kurt Schneider in 1959.[8] ## See also[edit] * Nonsense * Non sequitur (logic) and Non sequitur (literary device) * Red herring * Relevance logic * Schizophasia * SCIgen, a program that generates nonsense research papers by grammatically combining snippets; many of the sentences generated are individually plausible * Tip-of-the-tongue * Train of thought ## References[edit] 1. ^ a b P.J. McKenna, Schizophrenia and related syndromes, Psychology Press, 1997, ISBN 0-86377-790-2, pp. 14-15 2. ^ a b A.C.P. Sims, Symptoms in the mind: an introduction to descriptive psychopathology, Edition 3, Elsevier Health Sciences, 2003, ISBN 0-7020-2627-1, pp. 155-156 3. ^ a b Robert Spillane, John Martin, Personality and performance: foundations for managerial psychology, UNSW Press, 2005 ISBN 0-86840-816-6, pp. 239-243 4. ^ Tudor Rickards, Creativity and problem solving at work, Edition 3, Gower Publishing, 1997, ISBN 0-566-07961-5, p. 81 5. ^ Richard Courtney, Drama and intelligence: a cognitive theory, McGill-Queen's Press, 1990, ISBN 0-7735-0766-3, p. 128 6. ^ Andreasen NC. Thought, language, and communication disorders. I. A Clinical assessment, definition of terms, and evaluation of their reliability. Archives of General Psychiatry 1979;36(12):1315-21. PMID 496551. "Archived copy". Archived from the original on 2010-03-15. Retrieved 2010-05-05.CS1 maint: archived copy as title (link) 7. ^ Elyn Saks: "A tale of mental illness — from the inside." TEDGlobal 2012. Recorded in June 2012. "Archived copy". Archived from the original on 2014-03-26. Retrieved 2014-03-26.CS1 maint: archived copy as title (link) 8. ^ a b Tony Thompson, Peter Mathias, Jack Lyttle, Lyttle's mental health and disorder, Edition 3, Elsevier Health Sciences, 2000, ISBN 0-7020-2449-X, pp. 136, 168-170 [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	Derailment (thought disorder)	c0455731	29,325	wikipedia	https://en.wikipedia.org/wiki/Derailment_(thought_disorder)	2021-01-18T18:29:32	{"umls": ["C0455731"], "wikidata": ["Q5261301"]}
A number sign (#) is used with this entry because tetralogy of Fallot (TOF) can be caused by heterozygous mutation in the JAG1 gene (601920) on chromosome 20p12, the NKX2-5 gene (600584) on chromosome 5q35, the GATA4 gene (600576) on chromosome 8p23. Tetralogy of Fallot is also a well-recognized feature of many syndromes, including the 22q11 microdeletion syndrome (188400) and trisomy 21 (190685), and has been found to be caused by mutations in several genes, including ZFPM2 (603693), TBX1 (602054), and GATA6 (601656). Inheritance Pitt (1962) described a family in which 11 persons had either TOF or one of its components. The diagnosis was confirmed at operation or autopsy in 5 of the 11. The large study of Boon et al. (1972) led to the conclusions that heritability is about 54% and that in sibs the recurrence risk is about 1% for Fallot tetralogy and about 2% for any cardiac defect. The family that Der Kaloustian et al. (1985) reported may be a special type of Fallot tetralogy, inherited, the authors suggested, as an autosomal recessive. Two daughters of first cousins had tetralogy with pulmonary valve atresia. The bronchial circulation and pulmonary valve anatomy were identical in the 2 sibs. The parental consanguinity was of less significance because the family was Christian Maronite Lebanese, a small group with a relatively high rate of consanguinity. Familial tetralogy was reported also by Lynch et al. (1966) in sibs and by Friedberg (1974) in 3 generations but none of the affected, it seems, had pulmonary valve atresia. Jones and Waldman (1985) reported a family in which 6 persons in 3 successive generations had some combination of preauricular pits (4/6), tetralogy of Fallot (3/6), fifth finger clinodactyly (6/6), and seemingly characteristic facies (5/6). Features of the facies included broad forehead and 'prominent' eyes. Pankau et al. (1990) described tetralogy of Fallot in 3 of 5 sibs. Pacileo et al. (1992) also described tetralogy of Fallot in 3 sibs and a cousin. Hirt-Armon et al. (1996) reported a woman with tetralogy of Fallot in association with absence of the pulmonic valve. She gave birth to a female infant with TOF, extreme hypoplasia and dysplasia of the pulmonary valve, and type III tracheal agenesis (in this type the bronchi originate directly from the esophagus). The authors suggested that this association may represent a distinct syndrome with autosomal dominant inheritance. Familial cases of TOF with congenital absence of the pulmonic valve were reported by Friedberg (1974) and Der Kaloustian et al. (1985). Digilio et al. (1997) calculated empiric risk figures for recurrence of isolated tetralogy of Fallot in families after exclusion of del(22q11). The investigation covered relatives of 102 patients. Their results showed that the frequency of congenital heart defect was 3% in sibs, 0.5% in parents, 0.3% in grandparents, 0.2% in uncles or aunts, and 0.6% in first cousins. The recurrence risk rate for sibs was the same as that previously estimated, indicating that after exclusion of patients with del(22q11), genetic counseling to patients with isolated TOF should not be modified. Digilio et al. (1997) concluded that gene(s) different from those located on 22q11 must be involved in causing familial aggregation of nonsyndromic tetralogy of Fallot in these cases. Cytogenetics Johnson et al. (1997) conducted a cytogenetic evaluation of 159 cases of tetralogy of Fallot. A del(22q11) was identified in 14% who underwent fluorescence in situ hybridization (FISH) testing with the N25 cosmid probe. Rauch et al. (2010) found that 22q11.2 deletion was the most common genetic anomaly among 230 patients with TOF, found in 7.4% of patients. The associated cardiac phenotype was distinct for obstruction of the proximal pulmonary artery, hypoplastic central pulmonary arteries, and subclavian artery anomalies. The second most common anomaly was trisomy 21, found in 5.2% of patients, which was often associated with atrioventricular septal defect. Other chromosomal aberrations or submicroscopic copy number changes were found in 3% of patients. Molecular Genetics In a cohort of 178 Italian patients with TOF, De Luca et al. (2011) analyzed 5 genes known to be associated with conotruncal defects, including the NKX2-5 (600584), GATA4 (600576), ZFPM2 (603693), GDF1 (602880), and ISL1 (600366) genes, and identified heterozygous missense mutations in the NKX2-5 and ZFPM2 genes in 3 patients. De Luca et al. (2011) concluded that GATA4, GDF1, and ISL1 are not major determinants in the pathogenesis of TOF. ### Mutation in the NKX2-5 Gene Benson et al. (1999) evaluated the possibility of mutations in the cardiac-specific homeobox gene (CSX, or NKX2-5; 600584) in 20 patients with tetralogy of Fallot who were negative for del(22q11). In only 1 patient was a CSX mutation found, arg25 to cys (600584.0004). The patient had undergone surgery at 12 months of age for a typical tetralogy of Fallot and 2 small muscular VSDs. She had small pulmonary arteries with areas of peripheral narrowing and had undergone balloon dilation on 2 occasions. There was no family history of heart disease. She did not have AV block or atrial septal defect, which are features of patients with other CSX mutations. Goldmuntz et al. (2001) genotyped a group of 114 patients with tetralogy of Fallot from whom patients with 22q11 microdeletion (188400) had been excluded. They identified 4 heterozygous mutations in the NKX2-5 gene (600584.0004; 600584.0006-600584.0008) in 6 individuals. Three of these had classical tetralogy of Fallot with differing aortic arch anatomy, while the others had pulmonary valve atresia with or without major aortopulmonary collateral vessels. None had evidence of cardiac conduction system disease. Only one individual had a family history of tetralogy of Fallot. A number of asymptomatic mutation carriers were identified in other families, however, indicating reduced penetrance. Goldmuntz et al. (2001) stated that NKX2-5 mutations were the first gene defects identified for nonsyndromic tetralogy of Fallot, and estimated that NKX2-5 mutations are present in approximately 4% of all patients with TOF. Among 230 patients with TOF, Rauch et al. (2010) found that 2 patients (0.9%) had a low-penetrance mutation in the NKX2-5 gene (R25C; 600584.0004). Two additional patients had missense variants in the NKX2-5 gene (C270Y and V315L, respectively) that were not detected in 280 controls, but in vitro functional expression studies suggested no change in transcriptional activity as a result of these variants. In 2 (1.1%) of 178 Italian patients with TOF, De Luca et al. (2011) identified the R25C mutation in the NKX2-5 gene. These 2 sporadic patients both had a left-sided arch, subaortic ventricular septal defect, and patent pulmonary valve. ### Mutation in the JAG1 Gene Eldadah et al. (2001) identified a missense mutation (G274D; 601920.0010) in the JAG1 gene in a large kindred segregating autosomal dominant TOF with reduced penetrance. Nine of 11 mutation carriers manifested cardiac disease, including classic TOF, ventricular septal defect with aortic dextroposition, and isolated peripheral pulmonic stenosis. All forms of TOF were represented, including variants with pulmonic stenosis, pulmonic atresia, and absent pulmonary valve. No individual within this family met diagnostic criteria for any previously described clinical syndrome, including Alagille syndrome-1 (ALGS1; 118450), caused by haploinsufficiency for the JAG1 gene. All mutation carriers had characteristic but variable facial features, including long, narrow, and upslanting palpebral fissures, prominent nasal bridge, square dental arch and broad, prominent chin, which were distinct from those of unaffected family members and typical AGS patients. The glycine residue at position 274 is highly conserved in other EGF-like domains of JAG1 and in those of other proteins. The data supported either a relative loss-of-function or a gain-of-function pathogenetic mechanism in this family and suggested that JAG1 mutations may contribute significantly to common variants of right heart obstructive disease. Among 230 patients with TOF, Rauch et al. (2010) found that 3 (1.3%) had Alagille syndrome associated with JAG1 mutations. ### Mutation in the GATA4 Gene Tomita-Mitchell et al. (2007) analyzed the GATA4 gene (600576) in 628 patients with cardiac septal or conotruncal defects and identified 4 heterozygous missense mutations in 5 patients, including 1 with TOF (600576.0005) and a vague family history of congenital heart defects. The authors concluded that GATA4 mutations are uncommon in patients with septal defects. Zhang et al. (2008) analyzed the GATA4 gene (600576) in 486 Chinese patients with congenital heart defects and identified 9 heterozygous mutations in 12 patients, including 2 (3.1%) of 64 patients with TOF (600576.0011; 600576.0012). Peng et al. (2010) analyzed the GATA4 gene in 135 sporadic pediatric Chinese patients with congenital heart defects and identified a heterozygous missense mutation in 1 of 12 patients with TOF (600576.0007). ### Mutation in the ZFPM2 Gene In 2 of 47 patients with sporadic TOF, Pizzuti et al. (2003) identified heterozygosity for a mutation in the ZFPM2 gene: ser657 to gly (S657G; 603693.0001) or glu30 to gly (E30G; 603693.0002). They suggested that ZFMP2 gene mutations may contribute to some sporadic cases of TOF. In 1 (0.6%) of 178 Italian patients with TOF, De Luca et al. (2011) identified a missense mutation in the ZFPM2 gene (M544I; 603693.0007). This sporadic patient had a left-sided arch, subaortic ventricular septal defect, and patent pulmonary valve. Parental DNA was unavailable for analysis. ### Mutation in the TBX1 gene In a Turkish female patient with tetralogy of Fallot, Rauch et al. (2010) identified a heterozygous 30-bp duplication in the TBX1 gene on chromosome 22q11.2 (602054.0006). She had facial asymmetry, scoliosis, absent pulmonary vein, isolated left pulmonary artery, ventricular septal defect, and normal cognitive development. She did not have the facial gestalt of 22q11.2 deletion syndrome. The insertion was shown to result in the expansion of a polyalanine tract, which caused decreased transcriptional activity and cytoplasmic aggregation of the protein in cellular studies. ### Mutation in the GATA6 Gene In a Hispanic patient with tetralogy of Fallot, Maitra et al. (2010) identified heterozygosity for a missense mutation in the GATA6 gene (L198V; 601656.0003). The patient had a single malalignment ventricular septal defect with subvalvar/valvar pulmonary stenosis and a normal aortic arch. The mutation was also detected in the patient's unaffected mother, but was not found in 288 control individuals, including 96 of Hispanic ethnicity. In a 7-month-old Chinese boy with tetralogy of Fallot, Lin et al. (2010) identified heterozygosity for a missense mutation in GATA6 (S184N; 601656.0005). The mutation was detected in heterozygosity in his unaffected father, but was not found in 500 ethnically matched controls. The patient had an overriding aorta (50% override), pulmonary stenosis, ventricular septal defect, and right atrial and ventricular hypertrophy; he had no other abnormalities. The S184N GATA6 mutation was also identified in 2 Chinese patients with atrial septal defect (ASD9; 614475). ### Other Genetic Associations Lambrechts et al. (2005) found that a haplotype of 2 common SNPs in the promoter and 1 common SNP in the leader sequence of the VEGF (192240) gene, which are known to lower VEGF levels, increased the risk for TOF. Genotyping of 148 families with isolated, nonsyndromic TOF revealed that the low-VEGF haplotype (-2578A, -1154A, -634G), called AAG, was overtransmitted to affected children (p = 0.008). VEGF was said to be the first modifier gene identified for TOF. Greenway et al. (2009) performed a genomewide survey of 114 subjects with TOF and their unaffected parents and identified 11 de novo copy number variants that were absent or extremely rare (less than 0.1%) in 2,265 controls. Greenway et al. (2009) then examined a second independent TOF cohort of 398 individuals for additional copy number variants (CNVs) at these loci. They identified CNVs at chromosome 1q21.1 in 1% (5/512, P = 0.0002, odds ratio = 22.3) of nonsyndromic sporadic TOF cases. Greenway et al. (2009) also identified recurrent CNVs at 3p25.1, 7p21.3 (gain), and 22q11.2 (loss). CNVs in a single subject with TOF occurred at 6 loci, 2 of which encode disease-associated genes (NOTCH1, 190198 and JAG1). Greenway et al. (2009) concluded that their findings predicted at least 10% (4.5 to 15.5%, 95% confidence interval) of sporadic nonsyndromic TOF cases result from de novo CNVs and suggest that mutations within these loci might be etiologic in other cases of TOF. The chromosome 1q21 region overlaps those described in 612474 and 612475. Using Illumina SNP arrays, Soemedi et al. (2012) generated genomewide CNV data in 2,256 individuals with congenital heart disease, 283 trio congenital heart disease-affected families, and 1,538 controls. There was a slight overrepresentation of patients with tetralogy of Fallot, but all sporadic congenital heart disease was represented. Soemedi et al. (2012) found association of rare genic deletions with congenital heart disease risk (OR = 1.8, p = 0.0008). Rare deletions in study participants with congenital heart disease had higher gene content (p = 0.001) with higher haploinsufficiency scores (p = 0.03) than they did in controls, and they were enriched with Wnt signaling genes (see 606359) (p = 1 x 10(-5)). Recurrent 15q11.2 deletions were associated with congenital heart disease risk (OR = 8.2, p = 0.02). Rare de novo CNVs were observed in approximately 5% of congenital heart disease trios; 10 of 11 occurred on the paternally transmitted chromosome (p = 0.01). Some of the rare de novo CNVs spanned genes known to be involved in heart development (e.g., HAND2 (602407) and GJA5 (121013)). Rare genic deletions contributed to about 4% of the population-attributable risk of sporadic congenital heart disease. Second to CNV at 1q21.1, deletions at 15q11.2 and those implicating Wnt signaling are the most significant contributors to the risk of sporadic congenital heart disease. Rare de novo CNVs identified in congenital heart disease trios exhibit paternal origin bias. Limbs \- Fifth finger clinodactyly Facies \- Broad forehead \- Prominent eyes Inheritance \- Autosomal dominant Misc \- Sib recurrence risk of 1% for tetralogy and 2% for any congenital heart defect Cardiac \- Tetralogy of Fallot Ears \- Preauricular pits ▲ 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	TETRALOGY OF FALLOT	c0039685	29,326	omim	https://www.omim.org/entry/187500	2019-09-22T16:32:45	{"doid": ["6419"], "mesh": ["D013771"], "omim": ["187500"], "icd-9": ["745.2"], "icd-10": ["Q21.3"], "orphanet": ["3303"]}
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome is a rare, syndromic intellectual disability syndrome characterized by cortical blindness, different types of seizures, intellectual disability with limited or absent speech, and dysmorphic facial features. Brain imaging typically shows mild pontine hypoplasia, hypoplasia of the corpus callosum and atrophy in the occipital region. [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	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	c4014492	29,327	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=411986	2021-01-23T19:06:06	{"omim": ["615859"], "icd-10": ["G40.4"], "synonyms": ["Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome"]}
Human disease Cherry angioma A cherry angioma on a person's arm SpecialtyCardiology Cherry angiomas, also known as Campbell de Morgan spots or senile angiomas,[1] are cherry red[2] papules on the skin. They are a harmless benign tumour, containing an abnormal proliferation of blood vessels, and have no relationship to cancer. They are the most common kind of angioma, and increase with age, occurring in nearly all adults over 30 years. Campbell de Morgan is the nineteenth-century British surgeon who first described them. ## Contents * 1 Signs and symptoms * 2 Cause * 3 Diagnosis * 4 Treatment * 5 Prognosis * 6 Epidemiology * 7 References * 8 External links ## Signs and symptoms[edit] Cherry hemangioma, H&E stain Cherry angiomas are made up of clusters of capillaries at the surface of the skin,[3] forming a small round dome ("papule"),[3] which may be flat topped[citation needed]. They range in colour from bright red to purple. When they first develop, they may be only a tenth of a millimeter in diameter and almost flat, appearing as small red dots. However, they then usually grow to about one or two millimeters across, and sometimes to a centimeter or more in diameter[citation needed]. As they grow larger, they tend to expand in thickness, and may take on the raised and rounded shape of a dome. Multiple adjoining angiomas form a polypoid angioma.[3] Because the blood vessels comprising an angioma are so close to the skin's surface, cherry angiomas may bleed profusely if they are injured.[3] One study found that the majority of capillaries in cherry hemangiomas are fenestrated and stain for carbonic anhydrase activity.[4] ## Cause[edit] Cherry angiomas appear spontaneously in many people in middle age but can also, less commonly, occur in young people. They can also occur in an aggressive eruptive manner in any age. The underlying cause for the development of cherry angiomas is not understood. Cherry angioma may occur through two different mechanisms: angiogenesis (the formation of new blood vessels from pre-existing vessels), and vasculogenesis (the formation of totally new vessels, which usually occurs during embryonic and fetal development).[5] One study published in 2010 found that a regulatory nucleic acid suppresses protein growth factors that cause vascular growth. This regulatory nucleic acid was lower in tissue samples of hemangiomas, and the growth factors were elevated, which suggests that the elevated growth factors may cause hemangiomas.[6] The study found that the level of microRNA 424 is significantly reduced in senile hemangiomas compared to normal skin resulting in increased protein expression of MEK1 and cyclin E1. By inhibiting mir-424 in normal endothelial cells they could observe the same increased protein expression of MEK1 and cyclin E1 which, important for the development of senile hemangioma, induced cell proliferation of the endothelial cells. They also found that targeting MEK1 and cyclin E1 with small interfering RNA decreased the number of endothelial cells. A study published in 2019 identified that somatic mutations in GNAQ and GNA11 genes[7] are present in many cherry angiomas. These specific missense mutations found in hemangiomas are also associated with port-wine stains and uveal melanoma. Chemicals and compounds that have been seen to cause cherry angiomas are mustard gas,[8][9][10][11] 2-butoxyethanol,[12] bromides,[13] and cyclosporine.[14] A significant increase in the density of mast cells has been seen in cherry hemangiomas compared with normal skin.[15] ## Diagnosis[edit] The diagnosis is based on the clinical appearance of the lesions. Examination with a dermatoscope shows characteristic red, purple, or blue-black lagoons. ## Treatment[edit] These lesions generally do not require treatment. If they are cosmetically unappealing or are subject to bleeding angiomas may be removed by electrocautery, a process of destroying the tissue by use of a small probe with an electric current running through it.[16] Removal may cause scarring. More recently pulsed dye laser or intense pulsed light (IPL) treatment has also been used.[17][18] Future treatment based on a locally acting inhibitor of MEK1 and Cyclin E1 could possibly be an option. A natural MEK1 inhibitor is myricetin[19][20] ## Prognosis[edit] In most patients, the number and size of cherry angiomas increases with advancing age. They are harmless, having no relation to cancer at all.[21] ## Epidemiology[edit] Cherry angiomas occur in all races, ethnic backgrounds, and sexes.[citation needed] ## References[edit] 1. ^ James, William; Berger, Timothy; Elston, Dirk (2006). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Philadelphia: Saunders. p. 595. ISBN 978-0-7216-2921-6. OCLC 62736861. 2. ^ "cherry angioma" at Dorland's Medical Dictionary 3. ^ a b c d Stockman, David L. (2016). Diagnostic pathology. Vascular. Philadelphia, PA: Elsevier. pp. 3.4–3.5. ISBN 978-0-323-37674-7. 4. ^ Eichhorn, M; Jungkunz, W; Wörl, J; Marsch, WC (1994). "Carbonic anhydrase is abundant in fenestrated capillaries of cherry hemangioma". Acta Dermato-venereologica. 74 (1): 51–3. doi:10.2340/00015555745153 (inactive 2021-01-11). PMID 7908484.CS1 maint: DOI inactive as of January 2021 (link) 5. ^ Kishimoto, Saburo; Hideya Takenaka; Hideya Takenaka; Hideya Takenaka; Hirokazu Yasuno (2000). "Glomeruloid hemangioma in POEMS syndrome shows two different immunophenotypic endothelial cells". Cutaneous Pathology. 27 (2): 87–92. doi:10.1034/j.1600-0560.2000.027002087.x. PMID 10678704. S2CID 25150654. 6. ^ Nakashima, T; Jinnin, M; Etoh, T; Fukushima, S; Masuguchi, S; Maruo, K; Inoue, Y; Ishihara, T; Ihn, H (2010). Egles, Christophe (ed.). "Down-regulation of mir-424 contributes to the abnormal angiogenesis via MEK1 and cyclin E1 in senile hemangioma: its implications to therapy". PLOS ONE. 5 (12): e14334. Bibcode:2010PLoSO...514334N. doi:10.1371/journal.pone.0014334. PMC 3001869. PMID 21179471. 7. ^ Klebanov, Nikolai; Lin, William M.; Artomov, Mykyta; Shaughnessy, Michael; Njauw, Ching-Ni; Bloom, Romi; Eterovic, Agda Karina; Chen, Ken; Kim, Tae-Beom (2019-01-02). "Use of Targeted Next-Generation Sequencing to Identify Activating Hot Spot Mutations in Cherry Angiomas". JAMA Dermatology. 155 (2): 211–215. doi:10.1001/jamadermatol.2018.4231. ISSN 2168-6084. PMC 6440195. PMID 30601876. 8. ^ Firooz, Alireza; Komeili, Ali; Dowlati, Yahya (1999). "Eruptive melanocytic nevi and cherry angiomas secondary to exposureto sulfur mustard gas". Journal of the American Academy of Dermatology. 40 (4): 646–7. doi:10.1016/S0190-9622(99)70460-3. PMID 10188695. 9. ^ Hefazi, Mehrdad; Maleki, Masoud; Mahmoudi, Mahmoud; Tabatabaee, Abbas; Balali-Mood, Mahdi (2006). "Delayed complications of sulfur mustard poisoning in the skin and the immune system of Iranian veterans 16–20 years after exposure". International Journal of Dermatology. 45 (9): 1025–31. doi:10.1111/j.1365-4632.2006.03020.x. PMID 16961503. S2CID 38801029. 10. ^ Ma, Hui-Jun; Zhao, Guang; Shi, Fei; Wang, Yi-Xia (2006). "Eruptive cherry angiomas associated with vitiligo: Provoked by topical nitrogen mustard?". The Journal of Dermatology. 33 (12): 877–9. doi:10.1111/j.1346-8138.2006.00200.x. PMID 17169094. S2CID 6811229. 11. ^ Emadi, Seyed Naser; Hosseini-Khalili, Alireza; Soroush, Mohammad Reza; Davoodi, Seyed Masoud; Aghamiri, Seyed Samad (2008). "Mustard gas scarring with specific pigmentary, trophic and vascular characteristics (case report, 16-year post-exposure)". Ecotoxicology and Environmental Safety. 69 (3): 574–6. doi:10.1016/j.ecoenv.2007.01.003. PMID 17382390. 12. ^ Raymond, Lawrence W.; Williford, Linda S.; Burke, William A. (1998). "Eruptive Cherry Angiomas and Irritant Symptoms After One Acute Exposure to the Glycol Ether Solvent 2-Butoxyethanol". Journal of Occupational & Environmental Medicine. 40 (12): 1059–64. doi:10.1097/00043764-199812000-00005. PMID 9871882. 13. ^ Cohen, Arnon D.; Cagnano, Emanuela; Vardy, Daniel A. (2001). "Cherry Angiomas Associated with Exposure to Bromides". Dermatology. 202 (1): 52–3. doi:10.1159/000051587. PMID 11244231. S2CID 45485034. 14. ^ De Felipe, I.; Redondo, P (1998). "Eruptive Angiomas After Treatment With Cyclosporine in a Patient With Psoriasis". Archives of Dermatology. 134 (11): 1487–8. doi:10.1001/archderm.134.11.1487. PMID 9828895. 15. ^ Hagiwara, K; Khaskhely, NM; Uezato, H; Nonaka, S (1999). "Mast cell "densities" in vascular proliferations: a preliminary study of pyogenic granuloma, portwine stain, cavernous hemangioma, cherry angioma, Kaposi's sarcoma, and malignant hemangioendothelioma". The Journal of Dermatology. 26 (9): 577–86. doi:10.1111/j.1346-8138.1999.tb02052.x. PMID 10535252. S2CID 40976538. 16. ^ Aversa, AJ; Miller Of, 3rd (1983). "Cryo-curettage of cherry angiomas". The Journal of Dermatologic Surgery and Oncology. 9 (11): 930–1. doi:10.1111/j.1524-4725.1983.tb01042.x. PMID 6630708. 17. ^ Dawn, G.; Gupta, G. (2003). "Comparison of potassium titanyl phosphate vascular laser and hyfrecator in the treatment of vascular spiders and cherry angiomas". Clinical and Experimental Dermatology. 28 (6): 581–3. doi:10.1046/j.1365-2230.2003.01352.x. PMID 14616818. S2CID 13497344. 18. ^ Fodor, Lucian; Ramon, Ytzhack; Fodor, Adriana; Carmi, Nurit; Peled, Isaac J.; Ullmann, Yehuda (2006). "A Side-by-Side Prospective Study of Intense Pulsed Light and Nd:YAG Laser Treatment for Vascular Lesions". Annals of Plastic Surgery. 56 (2): 164–70. doi:10.1097/01.sap.0000196579.14954.d6. PMID 16432325. S2CID 43324812. 19. ^ Lee, KW; Kang, NJ; Rogozin, EA; Kim, HG; Cho, YY; Bode, AM; Lee, HJ; Surh, YJ; et al. (2007). "Myricetin is a novel natural inhibitor of neoplastic cell transformation and MEK1". Carcinogenesis. 28 (9): 1918–27. doi:10.1093/carcin/bgm110. PMID 17693661. 20. ^ Kim, JE; Kwon, JY; Lee, DE; Kang, NJ; Heo, YS; Lee, KW; Lee, HJ (2009). "MKK4 is a novel target for the inhibition of tumor necrosis factor-alpha-induced vascular endothelial growth factor expression by myricetin". Biochemical pharmacology. 77 (3): 412–21. doi:10.1016/j.bcp.2008.10.027. PMID 19026990. 21. ^ Perkins, Sharon. "Cherry Angioma & Skin Cancer". livestrong.com. Retrieved 10 April 2018. ## External links[edit] Classification D * ICD-9-CM: 448.1 * DiseasesDB: 30744 External resources * MedlinePlus: 001441 * eMedicine: derm/73 * eMedicine with picture showing small red dots * Pereira, José Marcos (2004). "Hemangioma rubi no couro cabeludo". Anais Brasileiros de Dermatologia. 79: 83–89. doi:10.1590/S0365-05962004000100010. * v * t * e Cardiovascular disease (vessels) Arteries, arterioles and capillaries Inflammation * Arteritis * Aortitis * Buerger's disease Peripheral artery disease Arteriosclerosis * Atherosclerosis * Foam cell * Fatty streak * Atheroma * Intermittent claudication * Critical limb ischemia * Monckeberg's arteriosclerosis * Arteriolosclerosis * Hyaline * Hyperplastic * Cholesterol * LDL * Oxycholesterol * Trans fat Stenosis * Carotid artery stenosis * Renal artery stenosis Other * Aortoiliac occlusive disease * Degos disease * Erythromelalgia * Fibromuscular dysplasia * Raynaud's phenomenon Aneurysm / dissection / pseudoaneurysm * torso: Aortic aneurysm * Abdominal aortic aneurysm * Thoracic aortic aneurysm * Aneurysm of sinus of Valsalva * Aortic dissection * Aortic rupture * Coronary artery aneurysm * head / neck * Intracranial aneurysm * Intracranial berry aneurysm * Carotid artery dissection * Vertebral artery dissection * Familial aortic dissection Vascular malformation * Arteriovenous fistula * Arteriovenous malformation * Telangiectasia * Hereditary hemorrhagic telangiectasia Vascular nevus * Cherry hemangioma * Halo nevus * Spider angioma Veins Inflammation * Phlebitis Venous thrombosis / Thrombophlebitis * primarily lower limb * Deep vein thrombosis * abdomen * Hepatic veno-occlusive disease * Budd–Chiari syndrome * May–Thurner syndrome * Portal vein thrombosis * Renal vein thrombosis * upper limb / torso * Mondor's disease * Paget–Schroetter disease * head * Cerebral venous sinus thrombosis * Post-thrombotic syndrome Varicose veins * Gastric varices * Portacaval anastomosis * Caput medusae * Esophageal varices * Hemorrhoid * Varicocele Other * Chronic venous insufficiency * Chronic cerebrospinal venous insufficiency * Superior vena cava syndrome * Inferior vena cava syndrome * Venous ulcer Arteries or veins * Angiopathy * Macroangiopathy * Microangiopathy * Embolism * Pulmonary embolism * Cholesterol embolism * Paradoxical embolism * Thrombosis * Vasculitis Blood pressure Hypertension * Hypertensive heart disease * Hypertensive emergency * Hypertensive nephropathy * Essential hypertension * Secondary hypertension * Renovascular hypertension * Benign hypertension * Pulmonary hypertension * Systolic hypertension * White coat hypertension Hypotension * Orthostatic hypotension [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	Cherry angioma	c0343082	29,328	wikipedia	https://en.wikipedia.org/wiki/Cherry_angioma	2021-01-18T18:31:30	{"umls": ["C0343082"], "icd-9": ["448.1"], "wikidata": ["Q5092514"]}
Not to be confused with sixth disease. Erythema infectiosum Other namesSlapped cheek syndrome, slapcheek, slap face, slapped face[1][2] 16-month-old with erythema infectiosum SpecialtyInfectious disease SymptomsRed rash, especially on cheeks Causesvirus Erythema infectiosum or fifth disease is one of several possible manifestations of infection by parvovirus B19.[3] The name "fifth disease" comes from its place on the standard list of rash-causing childhood diseases, which also includes measles (first), scarlet fever (second), rubella (third), Dukes' disease (fourth, but is no longer widely accepted as distinct from scarlet fever), and roseola (sixth). ## Contents * 1 Signs and symptoms * 2 Transmission * 3 Treatment * 4 Epidemiology * 5 History * 6 See also * 7 References * 8 External links ## Signs and symptoms[edit] Fifth disease starts with a low-grade fever, headache, rash, and cold-like symptoms, such as a runny or stuffy nose.[4] These symptoms pass, then a few days later, the rash appears. The bright red rash most commonly appears in the face, particularly the cheeks.[4] This is a defining symptom of the infection in children (hence the name "slapped cheek disease").[4] Occasionally, the rash will extend over the bridge of the nose or around the mouth. In addition to red cheeks, children often develop a red, lacy rash on the rest of the body, with the upper arms, torso, and legs being the most common locations. The rash typically lasts a few days and may itch; some cases have been known to last for several weeks. Patients are usually no longer infectious once the rash has appeared.[1][2] Teenagers and adults may present with a self-limited arthritis.[4] It manifests in painful swelling of the joints that feels similar to arthritis. Older children and adults with fifth disease may have difficulty in walking and in bending joints such as wrists, knees, ankles, fingers, and shoulders.[1][2] The disease is usually mild,[5] but in certain risk groups and rare circumstances, it can have serious consequences: * In pregnant women, infection in the first trimester has been linked to hydrops fetalis, causing spontaneous miscarriage. * In people with sickle-cell disease or other forms of chronic hemolytic anemia such as hereditary spherocytosis, infection can precipitate an aplastic crisis.[1][2] * Those who are immunocompromised (HIV/AIDS, chemotherapy) may be at risk for complications if exposed.[6] * In less than 5% of women with Parvovirus B19 infection, a baby may develop severe anemia leading to miscarriage. This occurs most often during the first half of pregnancy.[7] ## Transmission[edit] Fifth disease is transmitted primarily by respiratory secretions (saliva, mucus, etc.), but can also be spread by contact with infected blood. The incubation period (the time between the initial infection and the onset of symptoms) is usually between 4 and 21 days. Individuals with fifth disease are most infectious before the onset of symptoms. Typically, school children, day-care workers, teachers, and parents are most likely to be exposed to the virus. When symptoms are evident, the risk of transmission is small; therefore, symptomatic individuals do not need to be isolated.[1][2] ## Treatment[edit] Treatment is supportive, as the infection is frequently self-limiting. Antipyretics (i.e., fever reducers) are commonly used. The rash usually does not itch, but can be mildly painful. No specific therapy is recommended.[citation needed] ## Epidemiology[edit] Any age may be affected, although it is most common in children aged 5 to 15 years.[8] By the time adulthood is reached, about half the population will have become immune following infection at some time in their past.[1][2] Outbreaks can arise especially in nursery schools, preschools, and elementary schools. Infection is an occupational risk for school and day-care personnel.[9] No vaccine is available for human parvovirus B19,[2] though attempts have been made to develop one.[10] ## History[edit] It, or a disease presenting similarly,[11] was first described by Robert Willan in 1799 as "rubeola, sine catarrho". It was better defined by Anton Tschamer in 1889 as a rubella variant (Ortliche Rotheln), identified as a distinct condition in 1896 by Theodor Escherich, and given the name "erythema infectiosum" in 1899.[12] The term "Fifth disease" was coined in 1905 by the Russian-French physician Léon Cheinisse (1871-1924), who proposed a numbered classification of the six most common childhood exanthems.[13][11][14][15][16] The virus was first described in 1957 at the University of Pennsylvania by Werner, Brachman et al.[17] ## See also[edit] * List of cutaneous conditions * Roseola ## References[edit] 1. ^ a b c d e f Sabella C, Goldfarb J (October 1999). "Parvovirus B19 infections". Am Fam Physician. 60 (5): 1455–60. PMID 10524489. Retrieved 2009-11-06. 2. ^ a b c d e f g Servey JT, Reamy BV, Hodge J (February 2007). "Clinical presentations of parvovirus B19 infection". Am Fam Physician. 75 (3): 373–6. PMID 17304869. Retrieved 2009-11-06. 3. ^ Weir E (March 2005). "Parvovirus B19 infection: fifth disease and more". CMAJ. 172 (6): 743. doi:10.1503/cmaj.045293. PMC 552884. PMID 15767606. 4. ^ a b c d "Fifth Disease". medlineplus.gov. Retrieved 2020-10-29. 5. ^ Mankuta D, Bar-Oz B, Koren G (March 1999). "Erythema infectiosum (fifth disease) and pregnancy". Can Fam Physician. 45: 603–5. PMC 2328398. PMID 10099795. 6. ^ Yoto Y; et al. (2003). "Retrospective study on the influence of human parvovirus B19 infection among children with malignant diseases". Acta Haematol. 90 (1): 8–12. doi:10.1159/000204365. PMID 8237278. 7. ^ "Parvovirus B19 \| Pregnancy and Fifth Disease \| Human Parvovirus B19 \| CDC". www.cdc.gov. 2019-11-26. Retrieved 2020-10-29. 8. ^ Kwon, Kenneth T (March 19, 2009). "Pediatrics, Fifth Disease or Erythema Infectiosum". eMedicine. Retrieved November 7, 2009. 9. ^ Gillespie, S. M.; Cartter, M. L.; Asch, S; Rokos, J. B.; Gary, G. W.; Tsou, C. J.; Hall, D. B.; Anderson, L. J.; Hurwitz, E. S. (1990). "Occupational risk of human parvovirus B19 infection for school and day-care personnel during an outbreak of erythema infectiosum". JAMA. 263 (15): 2061–5. doi:10.1001/jama.1990.03440150069028. PMID 2157074. 10. ^ Ballou WR, Reed JL, Noble W, Young NS, Koenig S (2003). "Safety and immunogenicity of a recombinant parvovirus B19 vaccine formulated with MF59C.1". J Infect Dis. 187 (4): 675–8. doi:10.1086/368382. PMID 12599085. 11. ^ a b David M. Morens. Fifth Disease: Still Hazy After All These Years 12. ^ Altman, Lawrence K (November 30, 1982). "THE DOCTOR'S WORLD". The New York Times. Retrieved November 7, 2009. 13. ^ Robert R. Briney. Primary Cutaneous Actinomycosis 14. ^ Dictionary of Virology 15. ^ St. Louis Courier of Medicine (1906) 16. ^ Principles and Practice of Clinical Virology 17. ^ Werner, Georges H.; Brachman, Philip S.; Ketler, Albert; Scully, John; Rake, Geoffrey (1957). "A new viral agent associated with Erythema Infectiosum". Viruses in Search of Disease. Annals of the New York Academy of Sciences. 67. pp. 338–345. doi:10.1111/j.1749-6632.1957.tb46058.x. PMID 13411972. ## External links[edit] * Parvovirus B19 at the Centers for Disease Control and Prevention Classification D * ICD-10: B08.3 * ICD-9-CM: 057.0 * MeSH: D016731 * DiseasesDB: 4442 External resources * MedlinePlus: 000977 * eMedicine: emerg/378 derm/136 ped/192 * Patient UK: Fifth disease * v * t * e Skin infections, symptoms and signs related to viruses DNA virus Herpesviridae Alpha HSV * Herpes simplex * Herpetic whitlow * Herpes gladiatorum * Herpes simplex keratitis * Herpetic sycosis * Neonatal herpes simplex * Herpes genitalis * Herpes labialis * Eczema herpeticum * Herpetiform esophagitis Herpes B virus * B virus infection VZV * Chickenpox * Herpes zoster * Herpes zoster oticus * Ophthalmic zoster * Disseminated herpes zoster * Zoster-associated pain * Modified varicella-like syndrome Beta * Human herpesvirus 6/Roseolovirus * Exanthema subitum * Roseola vaccinia * Cytomegalic inclusion disease Gamma * KSHV * Kaposi's sarcoma Poxviridae Ortho * Variola * Smallpox * Alastrim * MoxV * Monkeypox * CPXV * Cowpox * VV * Vaccinia * Generalized vaccinia * Eczema vaccinatum * Progressive vaccinia * Buffalopox Para * Farmyard pox: Milker's nodule * Bovine papular stomatitis * Pseudocowpox * Orf * Sealpox Other * Yatapoxvirus: Tanapox * Yaba monkey tumor virus * MCV * Molluscum contagiosum Papillomaviridae HPV * Wart/plantar wart * Heck's disease * Genital wart * giant * Laryngeal papillomatosis * Butcher's wart * Bowenoid papulosis * Epidermodysplasia verruciformis * Verruca plana * Pigmented wart * Verrucae palmares et plantares * BPV * Equine sarcoid Parvoviridae * Parvovirus B19 * Erythema infectiosum * Reticulocytopenia * Papular purpuric gloves and socks syndrome Polyomaviridae * Merkel cell polyomavirus * Merkel cell carcinoma RNA virus Paramyxoviridae * MeV * Measles Togaviridae * Rubella virus * Rubella * Congenital rubella syndrome ("German measles" ) * Alphavirus infection * Chikungunya fever Picornaviridae * CAV * Hand, foot, and mouth disease * Herpangina * FMDV * Foot-and-mouth disease * Boston exanthem disease Ungrouped * Asymmetric periflexural exanthem of childhood * Post-vaccination follicular eruption * Lipschütz ulcer * Eruptive pseudoangiomatosis * Viral-associated trichodysplasia * Gianotti–Crosti syndrome * v * t * e Vertically transmitted infections Gestational * Viruses * Congenital rubella syndrome * Congenital cytomegalovirus infection * Neonatal herpes simplex * Hepatitis B * Congenital varicella syndrome * HIV * Fifth disease * Bacteria * Congenital syphilis * Other * Toxoplasmosis * transplacental * TORCH complex During birth * transcervical * Candidiasis * Gonorrhea * Listeriosis Late pregnancy * Listeriosis * Congenital cytomegalovirus infection By breastfeeding * Breastfeeding * Tuberculosis * HIV * v * t * e Numbered Diseases of Childhood Diseases * First Disease (Measles) * Second Disease (Scarlet Fever) * Third Disease (Rubella) * Fourth Disease (Dukes' Disease) * Fifth Disease (Erythema Infectiosum) * Sixth Disease (Roseola) [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	Fifth disease	c0085273	29,329	wikipedia	https://en.wikipedia.org/wiki/Fifth_disease	2021-01-18T19:02:04	{"mesh": ["D016731"], "umls": ["C0085273"], "wikidata": ["Q753654"]}
Arcus senilis Other namesarcus adiposus, arcus juvenilis (when occurring in younger individuals), arcus lipoides corneae, arcus cornealis Four representative slides of corneal arcus - arcus deposits tend to start at 6 and 12 o'clock and fill in until becoming completely circumferential. There is a thin, clear section separating the arcus from the limbus, known as the lucid interval of Vogt. Image from Zech and Hoeg, 2008.[1] SpecialtyOphthalmology Arcus senilis is a depositing of phospholipid and cholesterol in the peripheral cornea in patients over the age of 60 which appears as a hazy white, grey, or blue opaque ring (peripheral corneal opacity). Arcus is common and benign when it is in elderly patients. However, if arcus appears in patients less than 50 years old, it is termed "arcus juvenilis" and is associated with abnormally high cholesterol in the body with increased risks for cardiovascular disease. Arcus may also present as a white ring, which is visible in front of the periphery of the iris. ## Contents * 1 Causes * 2 Diagnosis * 3 Alternative names * 4 See also * 5 References * 6 External links ## Causes[edit] Arcus results from cholesterol deposits in or hyalinosis of the corneal stroma, and may be associated with ocular defects or with familial hyperlipidemia. It is common in the apparently healthy middle aged and elderly; a prospective cohort study of 12,745 Danes followed up for a mean of 22 years found that it had no clinical value as a predictor of cardiovascular disease.[2] Arcus can be a sign of disturbance in lipid metabolism, an indicator of conditions such as hypercholesterolemia, hyperlipoproteinemia or hyperlipidemia. Unilateral arcus is a sign of decreased blood flow to the unaffected eye, due to carotid artery disease or ocular hypotony. ## Diagnosis[edit] Arcus is usually diagnosed through visual inspection by an ophthalmologist or optometrist using a biomicroscope. Arcus senilis can be confused with the limbus sign, which reflects calcium rather than lipid deposits. Anterior embryotoxon is a benign, congenital, elongation of the sclera-cornea transition zone which is present at birth and has a similar appearance to arcus juvenilis.[3] ## Alternative names[edit] It is also called arcus adiposus, arcus corneae, arcus juvenilis (when it occurs in individuals younger than 50 years),[4] arcus lipoides corneae or arcus cornealis; sometimes a gerontoxon. ## See also[edit] * Xanthelasma ## References[edit] 1. ^ Zech Jr, LA; Hoeg, JM (2008). "Correlating corneal arcus with atherosclerosis in familial hypercholesterolemia". Lipids in Health and Disease. 7: 7. doi:10.1186/1476-511X-7-7. PMC 2279133. PMID 18331643. 2. ^ Christoffersen, M; Frikke-Schmidt, R; Schnohr, P; Jensen, GB; Nordestgaard, BG; Tybjærg-Hansen, A (15 September 2011). "Xanthelasmata, arcus corneae, and ischaemic vascular disease and death in general population: prospective cohort study". BMJ (Clinical Research Ed.). 343: d5497. doi:10.1136/bmj.d5497. PMC 3174271. PMID 21920887. 3. ^ Yanoff, Myron; Duker, Jay S. (2014). Ophthalmology (Fourth ed.). Elsevier Saunders. p. 174. ISBN 978-1455-7398-44. 4. ^ Yanoff, Myron; Duker, Jay S. (2014). Ophthalmology (Fourth ed.). Elsevier Saunders. p. 269. ISBN 978-1455-7398-44. ## External links[edit] Classification D * ICD-10: H18.4 * ICD-9-CM: 371.41 * OMIM: 107800 * MeSH: D00111233563919 * DiseasesDB: 17120 * v * t * e * Diseases of the human eye Adnexa Eyelid Inflammation * Stye * Chalazion * Blepharitis * Entropion * Ectropion * Lagophthalmos * Blepharochalasis * Ptosis * Blepharophimosis * Xanthelasma * Ankyloblepharon Eyelash * Trichiasis * Madarosis Lacrimal apparatus * Dacryoadenitis * Epiphora * Dacryocystitis * Xerophthalmia Orbit * Exophthalmos * Enophthalmos * Orbital cellulitis * Orbital lymphoma * Periorbital cellulitis Conjunctiva * Conjunctivitis * allergic * Pterygium * Pseudopterygium * Pinguecula * Subconjunctival hemorrhage Globe Fibrous tunic Sclera * Scleritis * Episcleritis Cornea * Keratitis * herpetic * acanthamoebic * fungal * Exposure * Photokeratitis * Corneal ulcer * Thygeson's superficial punctate keratopathy * Corneal dystrophy * Fuchs' * Meesmann * Corneal ectasia * Keratoconus * Pellucid marginal degeneration * Keratoglobus * Terrien's marginal degeneration * Post-LASIK ectasia * Keratoconjunctivitis * sicca * Corneal opacity * Corneal neovascularization * Kayser–Fleischer ring * Haab's striae * Arcus senilis * Band keratopathy Vascular tunic * Iris * Ciliary body * Uveitis * Intermediate uveitis * Hyphema * Rubeosis iridis * Persistent pupillary membrane * Iridodialysis * Synechia Choroid * Choroideremia * Choroiditis * Chorioretinitis Lens * Cataract * Congenital cataract * Childhood cataract * Aphakia * Ectopia lentis Retina * Retinitis * Chorioretinitis * Cytomegalovirus retinitis * Retinal detachment * Retinoschisis * Ocular ischemic syndrome / Central retinal vein occlusion * Central retinal artery occlusion * Branch retinal artery occlusion * Retinopathy * diabetic * hypertensive * Purtscher's * of prematurity * Bietti's crystalline dystrophy * Coats' disease * Sickle cell * Macular degeneration * Retinitis pigmentosa * Retinal haemorrhage * Central serous retinopathy * Macular edema * Epiretinal membrane (Macular pucker) * Vitelliform macular dystrophy * Leber's congenital amaurosis * Birdshot chorioretinopathy Other * Glaucoma / Ocular hypertension / Primary juvenile glaucoma * Floater * Leber's hereditary optic neuropathy * Red eye * Globe rupture * Keratomycosis * Phthisis bulbi * Persistent fetal vasculature / Persistent hyperplastic primary vitreous * Persistent tunica vasculosa lentis * Familial exudative vitreoretinopathy Pathways Optic nerve Optic disc * Optic neuritis * optic papillitis * Papilledema * Foster Kennedy syndrome * Optic atrophy * Optic disc drusen Optic neuropathy * Ischemic * anterior (AION) * posterior (PION) * Kjer's * Leber's hereditary * Toxic and nutritional Strabismus Extraocular muscles Binocular vision Accommodation Paralytic strabismus * Ophthalmoparesis * Chronic progressive external ophthalmoplegia * Kearns–Sayre syndrome palsies * Oculomotor (III) * Fourth-nerve (IV) * Sixth-nerve (VI) Other strabismus * Esotropia / Exotropia * Hypertropia * Heterophoria * Esophoria * Exophoria * Cyclotropia * Brown's syndrome * Duane syndrome Other binocular * Conjugate gaze palsy * Convergence insufficiency * Internuclear ophthalmoplegia * One and a half syndrome Refraction * Refractive error * Hyperopia * Myopia * Astigmatism * Anisometropia / Aniseikonia * Presbyopia Vision disorders Blindness * Amblyopia * Leber's congenital amaurosis * Diplopia * Scotoma * Color blindness * Achromatopsia * Dichromacy * Monochromacy * Nyctalopia * Oguchi disease * Blindness / Vision loss / Visual impairment Anopsia * Hemianopsia * binasal * bitemporal * homonymous * Quadrantanopia subjective * Asthenopia * Hemeralopia * Photophobia * Scintillating scotoma Pupil * Anisocoria * Argyll Robertson pupil * Marcus Gunn pupil * Adie syndrome * Miosis * Mydriasis * Cycloplegia * Parinaud's syndrome Other * Nystagmus * Childhood blindness Infections * Trachoma * Onchocerciasis [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	Arcus senilis	c0003742	29,330	wikipedia	https://en.wikipedia.org/wiki/Arcus_senilis	2021-01-18T18:42:32	{"mesh": ["D001112"], "umls": ["C0003742", "C0339268"], "icd-9": ["371.41"], "wikidata": ["Q120136"]}
## Description The disorder described by Hirschsprung (1888) and known as Hirschsprung disease or aganglionic megacolon is characterized by congenital absence of intrinsic ganglion cells in the myenteric (Auerbach) and submucosal (Meissner) plexuses of the gastrointestinal tract. Patients are diagnosed with the short-segment form (S-HSCR, approximately 80% of cases) when the aganglionic segment does not extend beyond the upper sigmoid, and with the long-segment form (L-HSCR) when aganglionosis extends proximal to the sigmoid. Total colonic aganglionosis and total intestinal HSCR also occur (Amiel et al., 2008). Isolated HSCR appears to be of complex nonmendelian inheritance with low sex-dependent penetrance and variable expression according to the length of the aganglionic segment, suggestive of the involvement of one or more genes with low penetrance (Amiel et al., 2008). For a general description and a discussion of genetic heterogeneity of Hirschsprung disease (HSCR), see 142623. Mapping While approximately 50% of familial cases of Hirschsprung disease (142623) are heterozygous for mutations in RET (164761), the penetrance of these mutations is only 50 to 70%, gender-dependent, and varies according to the extent of aganglionosis. In 12 multiplex Hirschsprung disease families, Bolk et al. (2000) searched for additional susceptibility genes which, in conjunction with the gene encoding the receptor tyrosine kinase RET (164761), lead to phenotypic expression. Haplotype analysis and extensive mutation screening demonstrated 3 types of families: 6 families harbored 'severe' RET mutations (group I); 5 families were RET-linked with no sequence alterations, and 1 family was RET-unlinked (group II). Although the presence of RET mutations in group I families was sufficient to explain HSCR inheritance, a genome scan revealed a new susceptibility locus on 9q31 exclusively in group II families. A nonparametic lod score of 3.8 (P = 0.002) was obtained between markers D9S1677 and D9S1828. Bolk et al. (2000) concluded that the degree of RET expression is critical for development of the HSCR phenotype: severe alleles lead to HSCR directly, while weak alleles require the additional effects of a 9q31 gene. Tang et al. (2010) provided evidence for 2 different putative loci within the HSCR 9q31 region that differed according to population. After stratification of 137 Dutch trios by RET mutation status, they identified a strong association with HSCR in those without RET mutations for rs10816998 in the intronic region of the SVEP1 (611691) gene (odds ratio (OR) of 2.38; p = 5.33 x 10(-5)). However, the findings were not replicated in a second cohort of 107 Dutch patients without RET mutations. In an independent Chinese population, after stratification of 173 patients and 436 controls by RET mutation status, there was a significant association between those with RET mutations and 2 SNPs in the IKBKAP gene (603722) (rs10979596 and rs10979597) (OR of 3.32; p = 5.10 x 10(-6)). These findings were replicated in another Chinese cohort of 21 patients with RET mutations. Tang et al. (2010) noted that HSCR association found for IKBKAP in Chinese suggested population specificity and implied that RET mutation carriers may have an additional risk for the disorder. INHERITANCE \- Autosomal dominant ABDOMEN Gastrointestinal \- Aganglionic megacolon \- Absent enteric ganglia along a variable length of intestine ▲ 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	HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 5	c0019569	29,331	omim	https://www.omim.org/entry/600156	2019-09-22T16:16:32	{"doid": ["10487"], "mesh": ["D006627"], "omim": ["600156"], "orphanet": ["388"], "genereviews": ["NBK1439"]}
## Description The testicular regression syndrome (TRS) was delineated by Sarto and Opitz (1973), who called it the XY gonadal dysgenesis syndrome. It is characterized primarily by the absence of gonads in an XY person. In most cases, uterus and fallopian tubes are absent but small tubular structures interpreted as mullerian or wolffian rudiments (or both) are present. The range of virilizing effects due to early testicular tissue extends from none in phenotypic females with only slightly hypoplastic normal external genitalia, well-formed but hypoplastic uterus, and well-formed tubes (De Marchi et al., 1981) to the anorchic phenotypic male (Edman et al., 1977). Most affected individuals lack a vagina but a urogenital sinus or pseudovaginal urethral outpouching is found. Partial labioscrotal fusion and clitoris enlargement are common, breast development is absent, and postpubertal eunuchoid habitus is the rule. Sometimes nongenital anomalies are present (summary by Rosenberg et al., 1984). Clinical Features Abeyaratne et al. (1969) described 16 cases of apparently complete absence of testes in phenotypic males, including one pair of affected sibs. Ferrier (1969) examined twins, one of whom had anorchia, who were found through blood studies to be probably monozygotic. Familial occurrence was noted by Overzier and Linden (1956). Bobrow and Gough (1970) also described 2 affected brothers. This familial disorder may be unilateral in a portion of cases. Hall et al. (1975) described anorchia in identical twins and in 2 brothers, and anorchia was unilateral in 3 and bilateral in 1. Josso and Briard (1980) supported the suggestion that a more appropriate term would be embryonic testicular regression syndrome. They observed two 46,XY sibs with variable degrees of sexual ambiguity. The elder was a phenotypic male with micropenis. The younger, a phenotypic female with slight fusion of the genital folds and absent mullerian ducts, conformed to the usual criteria of true agonadism. Coexistence of anorchia and true agonadism in this sibship suggests that they are fundamentally the same and due to regression of the embryonic testis. Rosenberg et al. (1984) reported a case of testicular regression in a virilized female and analyzed 20 cases from the literature. They described a 16-year-old 46,XY phenotypic female, born of nonconsanguineous parents and with 3 normal sibs, who had no breast development or pubic hair, slightly hypoplastic female external genitalia with enlarged clitoris and a small pseudovagina. Intravenous urography and urethral cystography showed a hypoplastic masculine urethra. On laparotomy no uterus or gonadal rudiments were observed, although rudiments of wolffian ducts were identified histologically. Basal levels of luteinizing hormone (LH) and follicle-stimulating hormone (FSH) were elevated, consistent with lack of gonadal tissue. Plasma testosterone, dihydrotestosterone, 17-hydroxyprogesterone, and androstenedione were all low; dehydroepiandrosterone (DHEA), predominantly of adrenal origin, was normal. The patient had no other anomalies. Rosenberg et al. (1984) favored autosomal recessive inheritance because of first-cousin parents in 1 instance, agreement with the recessive hypothesis (with sex limitation) on segregation analysis, and familial occurrence in 1 generation only. De Grouchy et al. (1985) reported a Tunisian sibship of 10 that contained 3 XY sibs with the testicular regression syndrome and severe mental retardation. Since there was an XX sib also with mental retardation, 2 independent disorders may have been segregating in this kindred. Parisi et al. (2002) described three 46,XY boys, including 2 brothers, with micropenis and poor phallic growth in response to both exogenous human chorionic gonadotropin (HCG) and testosterone therapy in the newborn period. They exhibited low neonatal testosterone levels that failed to respond to HCG stimulation, and had a distinctive gonadotropin profile with reduced LH levels and elevated FSH levels. They had small, cryptorchid testes with subsequent testicular regression and atrophy. In addition, all 3 boys developed microcephaly and mild learning delays. Parisi et al. (2002) noted that the phenotype of these 3 patients was reminiscent of testicular regression syndrome, but stated that patients with testicular regression syndrome have elevation of serum concentrations of both LH and FSH. Oguz Kutlu et al. (2009) reported a 46,XY boy with testicular regression, born of first-cousin Turkish parents, who presented at 5 months of age with undescended testicles, micropenis, flat scrotum, microcephaly, and psychomotor delay. The patient's LH level was low-normal, and FSH was high. No response was obtained with the HCG stimulation test. Analysis of Sertoli cell function showed levels of inhibin B and anti-Mullerian hormone to be low. At 5 months of age, testicles were visualized bilaterally in the inguinal canals by ultrasound, but by 2 years of age, no testicular tissue was found during inguinal exploration. Oguz Kutlu et al. (2009) stated that the physical findings and laboratory results in this patient were identical to those of the 3 patients studied by Parisi et al. (2002). GU \- Absent gonads Lab \- 46,XY chromosomes Inheritance \- Autosomal recessive with sex limitation ▲ 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	TESTICULAR REGRESSION SYNDROME	c0266427	29,332	omim	https://www.omim.org/entry/273250	2019-09-22T16:21:53	{"mesh": ["C537770"], "omim": ["273250"], "orphanet": ["983"], "synonyms": ["Alternative titles", "TESTICULAR REGRESSION, EMBRYONIC", "XY GONADAL AGENESIS SYNDROME", "ANORCHIA, FAMILIAL"]}
A rare subtype of holoprosencephaly characterized by midline fusion limited to the septal and/or preoptic regions of the telencephalon without a significant frontal neocortical fusion. Midline craniofacial malformations are generally mild and include solitary median maxillary incisor and pyriform sinus stenosis. Other reported manifestations include language delay, learning difficulties, and behavioral disorders. Imaging reveals abnormal fornix, absent or hypoplasic anterior corpus callosum, and unpaired anterior cerebral artery. [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	Septopreoptic holoprosencephaly	c1834877	29,333	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=280195	2021-01-23T17:12:52	{"mesh": ["C563579"], "omim": ["157170", "609637", "610829"], "icd-10": ["Q04.2"], "synonyms": ["Septopreoptic HPE"]}
A number sign (#) is used with this entry because the maturity-onset diabetes of the young type 2 (MODY2) is caused by heterozygous mutation in the GCK gene (138079) on chromosome 7p13. Description MODY is a form of NIDDM (125853) characterized by monogenic autosomal dominant transmission and early age of onset. For a general phenotypic description and a discussion of genetic heterogeneity of MODY, see 606391. In a review of the various forms of MODY, Fajans et al. (2001) stated that glucokinase-related MODY2 is a common form of the disorder, especially in children with mild hyperglycemia and in women with gestational diabetes and a family history of diabetes. It has been described in persons of all racial and ethnic groups. More than 130 MODY-associated mutations have been found in the glucokinase gene. Heterozygous mutations in glucokinase are associated with a mild form of nonprogressive hyperglycemia that is usually asymptomatic at diagnosis and is treated with diet alone. The mild fasting hyperglycemia with blood glucose concentrations of 110 to 145 mg/deciliter and impaired glucose tolerance in most affected carriers may be recognized by biochemical testing at a young age, possibly as early as birth. About 50% of the women who are carriers may have gestational diabetes. Less than 50% of the carriers have overt diabetes; many of those who do are obese or elderly. Two percent of MODY2 patients require insulin therapy. Diabetes-associated complications are rare in this form of MODY. MODY was found in 13% of the Caucasian NIDDM families collected in France by Froguel et al. (1991). Gidh-Jain et al. (1993) found that GCK mutations accounted for 56% of MODY families in France. Mapping Froguel et al. (1992) reported linkage between MODY in 16 French families and the GCK locus on chromosome 7. There was statistically significant evidence of genetic heterogeneity, with an estimated 45 to 95% of the 16 families showing linkage to glucokinase. In those families with linkage to GCK, the possibility of direct etiologic relationship to variation at the GCK locus was raised by Froguel et al. (1992). Molecular Genetics In affected members of a French family with MODY mapping to chromosome 7, previously studied by Froguel et al. (1992), Vionnet et al. (1992) identified a point mutation in the GCK gene (138079.0001). Hattersley et al. (1998) found that mutations in the GCK gene result in reduced birth weight as well as causing MODY. Barrio et al. (2002) estimated the prevalence of major MODY subtypes in Spanish MODY families and analyzed genotype-phenotype correlations. Twenty-two unrelated pediatric MODY patients and 97 relatives were screened for mutations in the coding region of the GCK, HNF1A (142410), and HNF4A (600281) genes using PCR-SSCP and/or direct sequencing. Mutations in MODY genes were identified in 64% of the families. GCK/MODY2 mutations were the most frequently found, in 41%: 7 novel and 2 theretofore described mutations. The age at diagnosis was prepubertal in MODY2 index patients and pubertal in MODY3 patients. Overt diabetes was rare in MODY2 and was invariably present in MODY3 index patients. Chronic complications of diabetes were absent in the MODY2 population and were present in more than 40% of all relatives of MODY3 patients. Birth weight was lower in the presence of a GCK fetal mutation when the mutation was of paternal origin. The authors concluded that mutations in the GCK/MODY2 gene are the most common cause of MODY in their population of pediatric and adolescent index patients. Clinical expression of MODY3 and MODY1 mutations, the second and third groups of defects found, was more severe, including the frequent development of chronic complications. Vits et al. (2006) identified 19 different GCK mutations, including 11 novel mutations (see, e.g., 138079.0014), in 33 (26.6%) of 124 Belgian probands with MODY. Pinterova et al. (2007) screened the GCK gene in 92 Czech probands fulfilling classic MODY criteria and identified 15 different missense mutations in 27 (29%) patients; the mutations were not found in 50 unrelated healthy Czech individuals. Pinterova et al. (2007) concluded that mutations in GCK are a common cause of MODY in the Czech population. In a mainland Chinese family with a clinical profile similar to that of previously reported MODY2 families, Shen et al. (2011) analyzed the GCK gene and identified a heterozygous missense mutation (E339K; 138079.0016) that segregated with the disease and was not found in 200 controls. The authors noted that MODY2 was rare in Asian families and that mutation in the GCK gene had not previously been reported in MODY patients from the Chinese mainland. Animal Model Using N-ethyl-N-nitrosourea (ENU) mutagenesis, Inoue et al. (2004) generated diabetic mice. The authors screened 9,375 animals and identified 11 mutations in the glucokinase (Gk) gene that were associated with hyperglycemia. Four had been found previously in human MODY2 patients, and 1 was found previously in a patient with permanent neonatal diabetes mellitus (PNDM; 606176). Some of the Gk mutant lines displayed impaired glucose-responsive insulin secretion, and the mutations had different effects on Gk mRNA levels and/or the stability of the GK protein. Misc \- Early onset, mild and relatively uncomplicated course Lab \- Glucokinase gene defect Endo \- Diabetes mellitus 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	MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2	c0342276	29,334	omim	https://www.omim.org/entry/125851	2019-09-22T16:42:18	{"doid": ["0111100"], "mesh": ["C562772"], "omim": ["125851"], "orphanet": ["552"], "synonyms": ["Alternative titles", "MODY, TYPE 2", "MODY, GLUCOKINASE-RELATED"], "genereviews": ["NBK500456"]}
A number sign (#) is used with this entry because of evidence that X-linked dilated cardiomyopathy-3B is caused by mutation in the gene encoding dystrophin (DMD; 300377) on chromosome Xp21. X-linked dilated cardiomyopathy is a prominent feature of Barth syndrome (302060), caused by mutation in the TAZ gene (300394) on chromosome Xq28. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see 115200. Clinical Features Berko and Swift (1987) described a black family in which 11 young male members had definite or possible evidence of dilated cardiomyopathy. The 5 affected males for whom they had complete clinical data survived for 5 to 12 months after the onset of symptoms, which occurred between ages 15 and 21 years. A diagnosis of definite late-onset dilated cardiomyopathy was given in 3 mothers of affected males and possible diagnosis was given in 2 others. These women presented in their forties with atypical chest pain, and progressive congestive heart failure developed gradually over a period of 10 or more years. Berko and Swift (1987) suggested that the affected males were hemizygous and the affected females heterozygous for a gene for idiopathic dilated cardiomyopathy. They pointed to a similar pedigree pattern in the families reported by Evans (1949), Biorck and Orinius (1964), Csanady and Szasz (1976), and Ross et al. (1978). Using antidystrophin antibody prepared to the N-terminal portion of dystrophin, Towbin et al. (1991) found low abundance cardiac dystrophin but normal skeletal muscle dystrophin in patients with XLCM. Mapping Towbin et al. (1993) did linkage studies in the large kindred reported by Berko and Swift (1987) and in a smaller new pedigree. Linkage of XLCM to the centromeric portion of the dystrophin locus was demonstrated, with combined maximum lod of 4.33 at theta = 0.0 using 2-point linkage and 4.81 using multipoint linkage analysis. No deletions were observed. Abnormalities of cardiac dystrophin were shown by Western blotting with N-terminal dystrophin antibody, whereas skeletal muscle dystrophin was normal, suggesting primary involvement of the DMD gene with cardiac muscle preferentially affected. Subsequently, in the smaller pedigree ('XLCM-2'), Taylor et al. (2007) identified a mutation in the LAMP2 gene (309060.0012), confirming a diagnosis of Danon disease (300257). Molecular Genetics Muntoni et al. (1993) demonstrated that an X-linked form of dilated cardiomyopathy was due to deletion in the promoter region and first exon of the DMD gene (300377.0021). Milasin et al. (1996) reported an XLCM family with a point mutation in the 5-prime splice site of the dystrophin E1-I1 boundary (300377.0025), and Ortiz-Lopez et al. (1997) found a causative mutation in exon 9 of the DMD gene (300377.0073) in a large North American kindred originally described by Berko and Swift (1987). Bastianutto et al. (2001) determined that 2 XLCM patients bore deletions that removed the muscle promoter and exon 1, but not the brain and cerebellar Purkinje promoters. The brain and cerebellar Purkinje promoters were found to be essentially inactive in muscle cell lines and primary cultures. Since dystrophin muscle enhancer-1 (DME1), a muscle-specific enhancer, is preserved in these patients, the authors tested its ability to upregulate the brain and cerebellar Purkinje promoters in muscle cells. Brain and cerebellar Purkinje (CP) promoter activity was significantly increased in the presence of DME1, and activation was observed exclusively in cells presenting a skeletal muscle phenotype versus cardiomyocytes. Bastianutto et al. (2001) suggested a role for DME1 in the induction of brain and cerebellar Purkinje isoform expression in the skeletal muscle of XLCM patients defective for muscle isoform expression. Animal Model De Repentigny et al. (2004) demonstrated that the mouse dystrophin CP promoter drove expression of a reporter gene specifically to the cerebellar Purkinje cell layer, but not to skeletal or cardiac muscle of transgenic mice. When the mouse counterpart of DME1 was present in the transgene construct, the dystrophin CP promoter was activated in skeletal muscle, but not in cardiac muscle. Cardiac \- Dilated cardiomyopathy Misc \- Second decade onset in males \- Late onset in heterozygous females Inheritance \- X-linked ▲ 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	CARDIOMYOPATHY, DILATED, 3B	c0340427	29,335	omim	https://www.omim.org/entry/302045	2019-09-22T16:18:43	{"doid": ["0110461"], "mesh": ["C536231"], "omim": ["302045"], "orphanet": ["154"], "synonyms": ["Alternative titles", "CARDIOMYOPATHY, DILATED, X-LINKED"], "genereviews": ["NBK1119"]}
Desquamative interstitial pneumonia SpecialtyPulmonology Desquamative interstitial pneumonia (DIP) is a form of idiopathic interstitial pneumonia featuring elevated numbers of macrophages within the alveoli (air sacs) of the lung. The alveolar macrophages have a characteristic light brown pigmentation and accumulate in the alveolar lumen and septa regions of the lower lobes of the lungs.[1] The typical effects of the macrophage accumulation are inflammation and later fibrosis (thickening and stiffness) of the lung tissue.[2] The term DIP is a misnomer.[3] Its name is derived from the former belief that these macrophages were pneumocytes that had desquamated.[4] It is associated with patients with a history of smoking.[5] Since more than 80% of cases occur in smokers, it has been suggested that the term DIP should be discarded and the subset occurring in smokers should be replaced with more accurate terms such as smoking-related interstitial fibrosis (SRIF).[3] Although smoking is the most common cause, studies have shown a relationship between occupational exposures and the development of DIP, including occupational dust, fire-extinguisher powder, diesel fumes, nylon filaments and beryllium and copper dust.[6] Additionally, DIP has been observed in children where it typically presents as a result of surfactant protein gene mutations, indicating that the disease is not always acquired in adulthood.[7] Smoking cessation and avoidance of secondhand smoke exposure are both crucial to preventing disease progression, however, treatment with corticosteroids and immunosuppressive therapy has been reported to be effective pharmacologic intervention.[8] Treatment with methylprednisolone has been reported.[9] ## References[edit] 1. ^ Diken, Özlem Erçen; Şengül, Aysun; Beyan, Ayşe Coşkun; Ayten, Ömer; Mutlu, Levent Cem; Okutan, Oğuzhan (2019). "Desquamative interstitial pneumonia: Risk factors, laboratory and bronchoalveolar lavage findings, radiological and histopathological examination, clinical features, treatment and prognosis". Experimental and Therapeutic Medicine. 17 (1): 587–595. doi:10.3892/etm.2018.7030. ISSN 1792-0981. PMC 6307411. PMID 30651839. 2. ^ Chakraborty, Rebanta K.; Basit, Hajira; Sharma, Sandeep (2020), "Desquamative Interstitial Pneumonia", StatPearls, Treasure Island (FL): StatPearls Publishing, PMID 30252335, retrieved 2020-12-02 3. ^ a b Mukhopadhyay S, Aesif SW, Sansano I. "5 simple reasons to discard DIP, or why we should stop calling dolphins big fish". J Clin Pathol. doi:10.1136/jclinpath-2020-206669. PMID 32843423. 4. ^ Cotran, Ramzi S.; Kumar, Vinay; Fausto, Nelson; Nelso Fausto; Robbins, Stanley L.; Abbas, Abul K. (2005). Robbins and Cotran pathologic basis of disease. St. Louis, Mo: Elsevier Saunders. p. 740. ISBN 0-7216-0187-1. 5. ^ Heyneman LE, Ward S, Lynch DA, Remy-Jardin M, Johkoh T, Müller NL (December 1999). "Respiratory bronchiolitis, respiratory bronchiolitis-associated interstitial lung disease, and desquamative interstitial pneumonia: different entities or part of the spectrum of the same disease process?". AJR Am J Roentgenol. 173 (6): 1617–22. doi:10.2214/ajr.173.6.10584810. PMID 10584810. 6. ^ Godbert, Benoît; Wissler, Marie-Pierre; Vignaud, Jean-Michel (2013-06-01). "Desquamative interstitial pneumonia: an analytic review with an emphasis on aetiology". European Respiratory Review. 22 (128): 117–123. doi:10.1183/09059180.00005812. ISSN 0905-9180. PMID 23728865. 7. ^ Margaritopoulos, George A.; Harari, Sergio; Caminati, Antonella; Antoniou, Katerina M. (2016). "Smoking-related idiopathic interstitial pneumonia: A review". Respirology. 21 (1): 57–64. doi:10.1111/resp.12576. ISSN 1440-1843. 8. ^ Chakraborty, Rebanta K.; Basit, Hajira; Sharma, Sandeep (2020-08-12). Desquamative Interstitial Pneumonia. StatPearls Publishing. PMID 30252335. 9. ^ Paul K, Klettke U, Moldenhauer J, et al. (December 1999). "Increasing dose of methylprednisolone pulse therapy treats desquamative interstitial pneumonia in a child". Eur. Respir. J. 14 (6): 1429–32. doi:10.1183/09031936.99.14614299. PMID 10624777. ## External links[edit] Classification D * ICD-10: J84.1 * ICD-9-CM: 516.37 * OMIM: 263000 * MeSH: C562470 C562470, C562470 External resources * Orphanet: 98852 * 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 This article about a medical condition affecting the respiratory system 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	Desquamative interstitial pneumonia	c0238378	29,336	wikipedia	https://en.wikipedia.org/wiki/Desquamative_interstitial_pneumonia	2021-01-18T18:47:40	{"mesh": ["C562470"], "umls": ["C0238378"], "orphanet": ["98852"], "wikidata": ["Q5265029"]}
Visual snow syndrome is a rare neurologic disease characterized by persistent continuous bilateral visual experience of flickering snow-like dots throughout the visual field in association with other visual (including palinopsia, enhanced entopic phenomena, nyctalopia, photophobia and photopsia) and non-visual (migraine with or without aura, tinnitus and occasionally tremor) symptoms. [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	Visual snow syndrome	c4324662	29,337	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=420556	2021-01-23T19:12:43	{"gard": ["12062"], "icd-10": ["H53.8"]}
A rare idiopathic gastroesophageal disease characterized by delayed gastric emptying in the absence of mechanical obstruction of the gastric outlet. Patients present symptoms including nausea, vomiting, early satiety, postprandial fullness, bloating, abdominal pain and, in more severe cases, dehydration, electrolyte disturbances, weight loss and malnutrition. [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	Idiopathic gastroparesis	c0859972	29,338	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=558411	2021-01-23T18:20:21	{"icd-10": ["K31.8"]}
Hawkey et al. (1985) reported lower bowel bleeding from colonic varices in adult brother and sister and the daughter of one of them. No evidence of liver disease or portal hypertension was found in any. The authors sited two other instances of familial colonic varices with normal portal pressure and concluded that the disorder represents one of venous dysplasia. Inheritance \- Autosomal dominant GI \- Lower bowel bleeding \- Colonic varices \- No liver disease \- Normal portal pressure Vascular \- Venous 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	COLONIC VARICES WITHOUT PORTAL HYPERTENSION	c1852721	29,339	omim	https://www.omim.org/entry/120440	2019-09-22T16:43:03	{"mesh": ["C565172"], "omim": ["120440"]}
Ecthyma Ecthyma SpecialtyDermatology Ecthyma is a variation of impetigo, presenting at a deeper level of tissue.[1] It is usually associated with Group A (beta-hemolytic) Streptococcus (abbreviated GAS).[2] ## See also[edit] * Ecthyma gangrenosum ## References[edit] 1. ^ "Ecthyma. DermNet NZ". 2. ^ "Dorlands Medical Dictionary:ecthyma". ## External links[edit] Classification D * ICD-10: L08.3 (ILDS L08.830) * ICD-9-CM: 686.8 * MeSH: D004473 * DiseasesDB: 30731 External resources * MedlinePlus: 000864 * eMedicine: derm/113 * Patient UK: Ecthyma * v * t * e Bacterial skin disease Gram +ve Firmicutes * Staphylococcus * Staphylococcal scalded skin syndrome * Impetigo * Toxic shock syndrome * Streptococcus * Impetigo * Cutaneous group B streptococcal infection * Streptococcal intertrigo * Cutaneous Streptococcus iniae infection * Erysipelas / Chronic recurrent erysipelas * Scarlet fever * Corynebacterium * Erythrasma * Listeriosis * Clostridium * Gas gangrene * Dermatitis gangrenosa * Mycoplasma * Erysipeloid of Rosenbach Actinobacteria * Mycobacterium-related: Aquarium granuloma * Borderline lepromatous leprosy * Borderline leprosy * Borderline tuberculoid leprosy * Buruli ulcer * Erythema induratum * Histoid leprosy * Lepromatous leprosy * Leprosy * Lichen scrofulosorum * Lupus vulgaris * Miliary tuberculosis * Mycobacterium avium-intracellulare complex infection * Mycobacterium haemophilum infection * Mycobacterium kansasii infection * Papulonecrotic tuberculid * Primary inoculation tuberculosis * Rapid growing mycobacterium infection * Scrofuloderma * Tuberculosis cutis orificialis * Tuberculosis verrucosa cutis * Tuberculous cellulitis * Tuberculous gumma * Tuberculoid leprosy * Cutaneous actinomycosis * Nocardiosis * Cutaneous diphtheria infection * Arcanobacterium haemolyticum infection * Group JK corynebacterium sepsis Gram -ve Proteobacteria * α: Endemic typhus * Epidemic typhus * Scrub typhus * North Asian tick typhus * Queensland tick typhus * Flying squirrel typhus * Trench fever * Bacillary angiomatosis * African tick bite fever * American tick bite fever * Rickettsia aeschlimannii infection * Rickettsialpox * Rocky Mountain spotted fever * Human granulocytotropic anaplasmosis * Human monocytotropic ehrlichiosis * Flea-borne spotted fever * Japanese spotted fever * Mediterranean spotted fever * Flinders Island spotted fever * Verruga peruana * Brill–Zinsser disease * Brucellosis * Cat-scratch disease * Oroya fever * Ehrlichiosis ewingii infection * β: Gonococcemia/Gonorrhea/Primary gonococcal dermatitis * Melioidosis * Cutaneous Pasteurella hemolytica infection * Meningococcemia * Glanders * Chromobacteriosis infection * γ: Pasteurellosis * Tularemia * Vibrio vulnificus * Rhinoscleroma * Haemophilus influenzae cellulitis * Pseudomonal pyoderma / Pseudomonas hot-foot syndrome / Hot tub folliculitis / Ecthyma gangrenosum / Green nail syndrome * Q fever * Salmonellosis * Shigellosis * Plague * Granuloma inguinale * Chancroid * Aeromonas infection * ε: Helicobacter cellulitis Other * Syphilid * Syphilis * Chancre * Yaws * Pinta * Bejel * Chlamydia infection * Leptospirosis * Rat-bite fever * Lyme disease * Lymphogranuloma venereum Unspecified pathogen * Abscess * Periapical abscess * Boil/furuncle * Hospital furunculosis * Carbuncle * Cellulitis * Paronychia / Pyogenic paronychia * Perianal cellulitis * Acute lymphadenitis * Pilonidal cyst * Pyoderma * Folliculitis * Superficial pustular folliculitis * Sycosis vulgaris * Pimple * Ecthyma * Pitted keratolysis * Trichomycosis axillaris * Necrotizing fascitis * Gangrene * Chronic undermining burrowing ulcers * Fournier gangrene * Elephantiasis nostras * Blistering distal dactylitis * Botryomycosis * Malakoplakia * Gram-negative folliculitis * Gram-negative toe web infection * Pyomyositis * Blastomycosis-like pyoderma * Bullous impetigo * Chronic lymphangitis * Recurrent toxin-mediated perineal erythema * Tick-borne lymphadenopathy * Tropical ulcer [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	Ecthyma	c0013568	29,340	wikipedia	https://en.wikipedia.org/wiki/Ecthyma	2021-01-18T18:59:59	{"mesh": ["D004473"], "umls": ["C0013568"], "icd-9": ["686.8"], "wikidata": ["Q470701"]}
For a phenotypic description and a discussion of genetic heterogeneity of chronic lymphocytic leukemia (CLL), see 151400. Mapping To identify a susceptibility gene for CLL, Sellick et al. (2005) conducted a genomewide linkage analysis of 115 pedigrees using a high density single-nucleotide polymorphism (SNP) array. They obtained a maximum nonparametric linkage score (NPL) of 3.14 (P = 0.0008) on 11p11. The same genomic position yielded the highest multipoint heterogeneity lod score under both dominant and recessive models. In addition, 4 other chromosomal positions (5q22-q23, 6p22, 10q25, and 14q32) displayed multipoint heterogeneity lod scores greater than 1.15. None of the regions coincided with areas of common chromosomal aberrations frequently observed in CLL. [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	LEUKEMIA, CHRONIC LYMPHOCYTIC, SUSCEPTIBILITY TO, 1	c0855095	29,341	omim	https://www.omim.org/entry/609630	2019-09-22T16:05:46	{"doid": ["1040"], "omim": ["609630"], "orphanet": ["67038"], "synonyms": ["Alternative titles", "CLLS1"]}
A number sign (#) is used with this entry because of evidence that Mungan syndrome (MGS) is caused by homozygous mutation in the RAD21 gene (606462) on chromosome 8q24. One such family has been reported. Clinical Features Mungan et al. (2003) reported a large consanguineous Turkish family segregating autosomal recessive chronic idiopathic intestinal pseudoobstruction (CIIP) in which 3 sibs had megaduodenum, long-segment Barrett esophagus, and different cardiac abnormalities. Two brothers and a sister, ages 26, 28, and 30 years, respectively, who had recurrent abdominal pain and pseudoobstruction from childhood, underwent upper endoscopy that revealed long-segment Barrett esophagus, hypomotility, and delayed gastric emptying. A biopsy of striated muscle in 1 of the brothers was normal. Esophageal manometry revealed aperistalsis and undetectable lower esophageal pressures, and barium small-bowel enema showed megaduodenum and delayed emptying. Cardiac murmurs were noted in all 3 sibs and echocardiography revealed 'trivial' supravalvular pulmonary stenosis and 2(+) pulmonary and tricuspid valve regurgitation in the 26-year-old proband, membranous ventricular septal defect in his brother, and 'trivial' pulmonic valve stenosis in their sister. Other findings in the sibs included epilepsy, glaucoma, and otosclerosis in the proband and bilateral ptosis in his brother. A male and female cousin, also born of consanguineous parents, were reported to have gastrointestinal complaints and died at 19 and 15 years of age, respectively. Deglincerti et al. (2007) investigated the Turkish family previously reported by Mungan et al. (2003) and found that the female cousin who died at age 15 did in fact have clinical and radiologic evidence of chronic idiopathic intestinal pseudoobstruction, as well as renal hypoplasia, vesicoureteral reflux, ascites, and unspecified granulomatous hepatitis. The authors examined full-thickness intestinal biopsies from the proband and his brother and observed abnormalities of both the neural and muscular components, suggesting an underlying neuromyopathy. Mapping Deglincerti et al. (2007) performed homozygosity mapping in the large consanguineous Turkish family originally reported by Mungan et al. (2003) with autosomal recessive visceral neuromyopathy and obtained a maximum 2-point lod score of 3.97 and maximum multipoint lod score of 5.01 for a novel microsatellite marker between D8S199 and D8S514. The critical interval spans about 13 Mb between D8S1830 and D8S1799 on chromosome 8q23-q24. Molecular Genetics In the large consanguineous Turkish family originally reported by Mungan et al. (2003), with intestinal pseudoobstruction mapping to chromosome 8q23-q24, Bonora et al. (2015) performed whole-exome sequencing and identified a homozygous missense mutation in the RAD21 gene (A622T; 606462.0003) that segregated fully with disease in the family and was not found in 500 Turkish controls or in public variant databases. Screening of RAD21 in 21 Italian and 12 Swedish patients with pseudoobstruction did not reveal any mutations. INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Ptosis, bilateral CARDIOVASCULAR Heart \- Ventricular septal defect, membranous \- Pulmonary valve regurgitation \- Tricuspid valve regurgitation \- Pulmonary valve stenosis, minimal Vascular \- Supravalvular pulmonary stenosis, minimal ABDOMEN Gastrointestinal \- Visceral neuromyopathy \- Pseudoobstruction \- Megaduodenum \- Barrett esophagus, long-segment \- Aperistalsis GENITOURINARY Kidneys \- Renal hypoplasia Ureters \- Vesicoureteral reflux NEUROLOGIC Peripheral Nervous System \- Visceral neuromyopathy MISCELLANEOUS \- Based on report of 1 family (last curated August 2018) MOLECULAR BASIS \- Caused by mutation in the homolog of S. pombe RAD21 (RAD21, 606462.0003 ) ▲ 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	MUNGAN SYNDROME	c1969653	29,342	omim	https://www.omim.org/entry/611376	2019-09-22T16:03:23	{"mesh": ["C548078"], "omim": ["611376"], "synonyms": ["Alternative titles", "VISCERAL NEUROMYOPATHY, FAMILIAL, WITH PSEUDOOBSTRUCTION, MEGADUODENUM, BARRETT ESOPHAGUS, AND CARDIAC ABNORMALITIES", "PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, WITH BARRETT ESOPHAGUS AND CARDIAC ABNORMALITIES"]}
## Summary The following are the goals of this overview. ### Goal 1. Describe the neuroimaging characteristics of polymicrogyria (PMG). ### Goal 2. Review the genetic causes of PMG. ### Goal 3. Provide an evaluation strategy to identify the genetic cause of PMG in a proband (when possible). ### Goal 4. Inform genetic counseling of family members of a proband with PMG. ## Diagnosis ## Clinical Characteristics ## Differential Diagnosis Other malformations of cortical development that need to be distinguished from PMG: * Pachygyria/lissencephaly, a distinct brain malformation in which reduced or absent cortical folding is combined with a thick cortex. Pachygyria and PMG may look similar on low-resolution neuroimaging (e.g., CT) because in both conditions the cortical thickness can appear to be increased and the gyri can appear to be broad and smooth. The cortex in PMG is overfolded but not thickened. The microgyri and microsulci of PMG and stippling of the gray-white junction that can be appreciated with high-quality MRI can distinguish PMG from pachygyria [Leventer et al 2010]. * Cobblestone lissencephaly, a brain surface that has a bumpy contour resulting from migration of neurons and glial cells through the basement membrane into the leptomeninges. Sometimes regions populated by these misplaced cells are incorrectly initially diagnosed as PMG based on the MRI appearance and are only distinguished from PMG by the presence of other brain abnormalities (e.g., white matter and cerebellar abnormalities) in combination with ocular anomalies and congenital muscular dystrophy. The cobblestone lissencephalies comprise brain malformations associated with congenital muscular dystrophy, including Walker-Warburg syndrome, muscle-eye-brain disease, and Fukuyama congenital muscular dystrophy. * Schizencephaly, a specific pattern of PMG that describes a full-thickness cleft in the brain lined by PMG. While either CT or MRI is usually sufficient to diagnose schizencephaly, MRI is preferred when determining if the schizencephaly is open- or closed-lipped. ## Management [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	Polymicrogyria Overview	None	29,343	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK1329/	2021-01-18T21:02:48	{"synonyms": []}
Radiation-induced thyroiditis is a form of painful, acute thyroiditis resulting from radioactive therapy to treat hyperthyroidism or from radiation to treat head and neck cancer or lymphoma. It affects 1% of those who have received radioactive iodine (I-131) therapy for Graves' Disease, typically presenting between 5 and 10 days after the procedure.[1] Stored T3 and T4 are released as rapid destruction of thyroid tissue occurs which results in pain, tenderness, and exacerbation of hyperthyroidism.[citation needed] ## References[edit] 1. ^ Bindra A, Braunstein GD (May 2006). "Thyroiditis". Am Fam Physician. 73 (10): 1769–76. PMID 16734054. [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	Radiation-induced thyroiditis	None	29,344	wikipedia	https://en.wikipedia.org/wiki/Radiation-induced_thyroiditis	2021-01-18T19:02:51	{"wikidata": ["Q2353052"]}
Overwhelming post-splenectomy infection Other namesOverwhelming post-splenectomy sepsis (OPSS)[1] SpecialtyInfectious disease Duration2-3[clarification needed] An overwhelming post-splenectomy infection (OPSI) is a rare but rapidly fatal infection occurring in individuals following removal (or permanent dysfunction) of the spleen. The infections are typically characterized by either meningitis or sepsis, and are caused by encapsulated organisms including Streptococcus pneumoniae.[2] Another source of infection[3] are varieties of babesia, which are tick-borne parasites that cause babesiosis.[4] Capnocytophaga canimorsus can trigger infection after dog bites.[5] ## Contents * 1 Mechanism * 1.1 Vaccination * 2 Prognosis * 3 References ## Mechanism[edit] The spleen contains many macrophages (part of the reticuloendothelial system), which are immune cells that phagocytose (eat) and destroy bacteria. In particular, these macrophages are activated when bacteria are bound by IgG antibodies (IgG1 or IgG3) or the complement component C3b. These types of antibodies and complement are immune substances called opsonizers, molecules that bind to the surface of bacteria to facilitate phagocytosis. When the spleen is no longer present (asplenia), IgG and C3b are still bound to bacteria, but they cannot be removed from the blood circulation due to the loss of the splenic macrophages. Hence the bacteria are free to cause infection. Patients without a spleen often need immunizations against pathogens that normally require opsonization and phagocytosis by macrophages in the spleen. These include common human pathogens with bacterial capsules (Streptococcus pneumoniae, Salmonella typhi, Neisseria meningitidis, E. coli, Hemophilus influenzae, Streptococcus agalactiae, Klebsiella pneumoniae, Pseudomonas aeruginosa ). Capsules made of polysaccharides (sugars) permit bacteria to evade phagocytosis by macrophages alone, since only proteins are directly recognized by macrophages in phagocytosis. So humoral immunity in forms of IgG and complement proteins is the human immune system's response against bacterial capsules. ### Vaccination[edit] The Centers for Disease Control and Prevention's annual vaccine recommendations includes specifics for individuals without a functioning spleen.[6] The CDC recommends against live vaccines and has specific advice for travelers, which includes malaria avoidance for asplenic individuals.[7] ## Prognosis[edit] The risk of OPSI is 0.23–0.42 percent per year, with a lifetime risk of 5 percent.[8] Most infections occur in the first few years following splenectomy, but the risk of OPSI is lifelong.[2][9] OPSI is almost always fatal without treatment, and modern treatment has decreased the mortality to approximately 40–70 percent.[2][10] Individuals with OPSI are most commonly treated with antibiotics and supportive care.[8] Measures to prevent OPSI include vaccination and prophylactic antibiotics.[8][11][12] ## References[edit] 1. ^ surgical recall, seventh edition, lorne H. Blackbourne, page 469. 2. ^ a b c Waghorn DJ (March 2001). "Overwhelming infection in asplenic patients: current best practice preventive measures are not being followed". Journal of Clinical Pathology. 54 (3): 214–8. doi:10.1136/jcp.54.3.214. PMC 1731383. PMID 11253134. 3. ^ Rosner, F. (April 1984). "Babesiosis in splenectomized adults. Review of 22 reported cases". American Journal of Medicine. 76 (4): 696–701. doi:10.1016/0002-9343(84)90298-5. PMID 6424470. 4. ^ Centers for Disease Control and Prevention. "About Babesiosis". CDC Parasites. Retrieved 19 June 2018. 5. ^ Sinwar, Prabhu (December 2014). "Overwhelming post splenectomy infection syndrome – Review study". International Journal of Surgery. 12 (12): 1314–1316. doi:10.1016/j.ijsu.2014.11.005. PMID 25463041. 6. ^ "2018 Adult Schedule by Health Conditions in Easy-to-read Format for Patients". Centers for Disease Control and Prevention. Retrieved 19 June 2018. 7. ^ Camille Nelson Kotton; Andrew T. Kroger; David O. Freedman. "Advising Travelers with Specific Needs". Travelers' Health. Retrieved 25 October 2018. 8. ^ a b c Davidson RN, Wall RA (December 2001). "Prevention and management of infections in patients without a spleen". Clinical Microbiology and Infection. 7 (12): 657–60. doi:10.1046/j.1198-743x.2001.00355.x. PMID 11843905. Archived from the original on 2013-01-05. 9. ^ Cullingford GL, Watkins DN, Watts AD, Mallon DF (June 1991). "Severe late postsplenectomy infection". The British Journal of Surgery. 78 (6): 716–21. doi:10.1002/bjs.1800780626. PMID 2070242. S2CID 23790214. 10. ^ Schwartz PE, Sterioff S, Mucha P, Melton LJ, Offord KP (November 1982). "Postsplenectomy sepsis and mortality in adults". Journal of the American Medical Association. 248 (18): 2279–83. doi:10.1001/jama.248.18.2279. PMID 7131680. 11. ^ Working Party of the British Committee for Standards in Haematology Clinical Haematology Task Force (1996). "Guidelines for the prevention and treatment of infection in patients with an absent or dysfunctional spleen. Working Party of the British Committee for Standards in Haematology Clinical Haematology Task Force". BMJ. 312 (7028): 430–4. doi:10.1136/bmj.312.7028.430. PMC 2350106. PMID 8601117. 12. ^ Davies JM, et al. (2001-06-02). "The prevention and treatment of infection in patients with an absent or dysfunctional spleen - British Committee for Standards in Haematology Guideline up-date". BMJ. 312 (7028): 430–4. doi:10.1136/bmj.312.7028.430. PMC 2350106. PMID 8601117. [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	Overwhelming post-splenectomy infection	c0472810	29,345	wikipedia	https://en.wikipedia.org/wiki/Overwhelming_post-splenectomy_infection	2021-01-18T18:28:30	{"wikidata": ["Q2106293"]}
## Clinical Features Henderson et al. (1968) described 3 brothers with numerous skin nodules on the back. These consisted of thickened dermis due to increased collagenous tissue. One brother had idiopathic myocardiopathy, a second had atrophy of the left iris and severe high frequency sensorineural hearing loss, and the third had recurrent vasculitis. Thus, the cutaneous abnormality may be merely part of a systemic disorder. Uitto et al. (1979) reported an American black family with 7 affected in 3 generations, including 1 instance of male-to-male transmission. The asymptomatic skin nodules were mainly on the back and chest. Individual lesions varied from a few millimeters to several centimeters in size, were indurated, and showed minimal epidermal changes. Histologically, they were characterized by excessive accumulations of dense, coarse collagen fibers in the dermis. Onset was in the teens and the number of lesions increased during pregnancy. Hormonal influence was suggested. Hershkovitz et al. (2007) reported a 2-generation family of Jewish origin in which 2 first cousins, aged 6 and 7 years, respectively, had asymptomatic flesh-colored collagenous cutaneous nodules localized mainly over the extremities and lower trunk. Neither child had any other manifestations. The authors referred to this disorder as 'familial cutaneous collagenoma,' but noted the phenotypic overlap with Buschke-Ollendorff syndrome (BOS; 166700). Neither child had evidence of bone lesions, as found in BOS, but individuals with BOS may not show bone lesions. A heterozygous mutation in the LEMD3 gene (607844.0009) was found in both children, but it was also found in the unaffected father of 1 of the children. The findings indicated that abnormal function of LEMD3 may be causally associated with familial collagenomas, which suggested that this family had a variant of BOS without bony abnormalities. Hershkovitz et al. (2007) noted that the findings also suggested that some cases reported as having familial cutaneous collagenomas may have a variant of BOS. GU \- Primary testicular failure Inheritance \- Autosomal dominant Skin \- Cutaneous collagenomas \- Congenital posterior occipital alopecia Eyes \- Iris atrophy Vascular \- Recurrent vasculitis Cardiac \- Tricuspid regurgitation \- Cardiomyopathy, esp. right ventricular \- Atrial fibrillation \- Chronic congestive heart failure Ears \- Sensorineural hearing loss ▲ 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	COLLAGENOMA, FAMILIAL CUTANEOUS	c0406817	29,346	omim	https://www.omim.org/entry/115250	2019-09-22T16:43:41	{"mesh": ["C562925"], "omim": ["115250"], "orphanet": ["53296"]}
A high-functioning alcoholic (HFA) is a person who maintains jobs and relationships while exhibiting alcoholism.[1][2][3] High Functional alcoholics account for 19.5 percent of total U.S. alcoholics.[4] Statistics from the Harvard School of Public Health indicated that 31 percent of college students show signs of alcohol abuse and 6 percent are dependent on alcohol. Doctors hope that the new definition will help identify severe cases of alcoholism early, rather than when the problem is fully developed.[5] Many HFAs are not viewed as alcoholics by society because they do not fit the common alcoholic stereotype. Unlike the stereotypical alcoholic, HFAs have either succeeded or over-achieved throughout their lifetimes. This can lead to denial of alcoholism by the HFA, co-workers, family members, and friends. Functional alcoholics account for 19.5 percent of total U.S. alcoholics, with 50 percent also being smokers and 33 percent having a multigenerational family history of alcoholism.[4] ## References[edit] 1. ^ Benton, Sarah Allen (2009). Understanding the High-Functioning Alcoholic – Professional Views and Personal Insights. Greenwood Publishing Group. ISBN 978-0-313-35280-5. 2. ^ Brody, Jane (May 4, 2009). "High Functioning, but Still Alcoholics". The New York Times. Retrieved February 18, 2012. 3. ^ "Understanding High Functioning Alcoholics". Psychology Today. 4. ^ a b National Institute on Alcohol Abuse and Alcoholism (June 28, 2007). "Researchers Identify Alcoholic Subtypes" (Press release). National Institutes of Health. Retrieved February 18, 2012. 5. ^ Sanderson, Megan (May 22, 2012). "About 37 percent of college students could now be considered alcoholics". Daily Emerald. 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Sulfonic acids: Acamprosate Religion and alcohol * Christian views on alcohol * alcohol in the Bible * Islam and alcohol History * Bratt System Related * Index of alcohol-related articles * Austrian syndrome * Ban on caffeinated alcoholic beverages * Brief intervention * Gateway drug effect * Last call * Mood disorder * Non-alcoholic fatty liver disease * Self-medication * Spins * Sober companion * Sober living houses * Sobering center * Town drunk * Category This article about an alcohol 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	High-functioning alcoholic	None	29,347	wikipedia	https://en.wikipedia.org/wiki/High-functioning_alcoholic	2021-01-18T19:05:59	{"wikidata": ["Q5754528"]}
A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms. [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	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	None	29,348	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=566231	2021-01-23T17:15:45	{"synonyms": ["RTHa", "Resistance to thyroid hormone alpha", "Resistance to thyroid hormone due to a mutation in TRa"]}
## Mapping Because of previous evidence of linkage of the region of 18q12-q21 containing the Kidd blood group (111000) and the DNA marker D18S64 to type 1 diabetes (IDDM; see 222100) (Hodge et al., 1981), Merriman et al. (1997) evaluated 12 informative microsatellite markers for linkage with disease by the transmission disequilibrium test (TDT) in a U.K. dataset of type 1 diabetic families (n = 195). They detected increased transmission of allele 4 of marker D18S487 to affected children (P = 0.02). Support for this result was extended to a total of 1,067 families from 4 different countries by isolating, and evaluating by TDT, 2 novel microsatellites within 70 kb of D18S487. Evidence for linkage and association was P = 5 x 10(-5) and 3 x 10(-4), respectively. There was no evidence for increased transmission of associated alleles to unaffected sibs. Analysis of an additional 390 families by TDT did not extend the evidence further, and reduced support in the total 1,457 families to P = 0.001 for linkage and P = 0.003 for association. However, evidence for linkage by affected sib pair allele sharing was strong in the second dataset; P = 3.2 x 10(-5). This IDDM locus was designated IDDM6. Heterogeneity in TDT results between datasets was, in part, accounted for by the presence of more than 1 common disease-associated haplotype (allelic heterogeneity), which confounded the analysis of individual alleles by TDT. Merriman et al. (1997) discussed the enormous challenge of identifying polygenes in a disorder such as IDDM (see 222100), because of the combination of locus, allelic, and clinical heterogeneity. On the basis of their results with IDDM6, they made some recommendations for strategies. Evidence of linkage in affected sib pair families (the most common pedigree configuration in common polygenic diseases) should be sought in several different populations. The ideal family datasets are those drawn from isolated populations, such as Sardinia and Finland, or from countries such as Denmark, Sweden, Spain, Italy, or Norway, which are more homogeneous in population than the U.S. or U.K. If only 1 dataset shows positive evidence of linkage to a chromosome region, evidence of replication should be sought by collecting more families from the same country. Given consistent evidence of linkage, linkage disequilibrium should be evaluated specifically in the linked region using all available microsatellites with an appropriate level of polymorphism. The hope is that by defining different founder chromosomes in different populations, regions of strongest and most consistent linkage disequilibrium with multiple markers can be defined. Using a single microsatellite marker at each locus, Vaidya et al. (2000) screened the type 1 diabetes loci IDDM4, IDDM5, IDDM6, IDDM8 (600883), and IDDM10 (601942), as well as the fucosyltransferase-2 locus (FUT2; 182100), for linkage in sib pairs with Graves disease (275000). A 2-point nonparametric linkage (NPL) score of 1.57 (P = 0.06) at the IDDM6 marker D18S41 was found, but NPL scores were less than 1.0 at the other 5 loci. The investigation of the IDDM6 locus was extended by genotyping 11 microsatellite markers spanning 48 cM across 18q12-q22 in 81 sib pairs affected with autoimmune thyroid disease (AITD; see 608173). Multipoint analysis showed a peak NPL score of 3.46 (P = 0.0003) at marker D18S487. This locus is also designated AITD5. Endocrine \- Diabetes mellitus, insulin-dependent Inheritance \- Autosomal locus and allelic heterogeneity ▲ 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	DIABETES MELLITUS, INSULIN-DEPENDENT, 6	c1866041	29,349	omim	https://www.omim.org/entry/601941	2019-09-22T16:14:09	{"mesh": ["C566603"], "omim": ["601941"], "synonyms": ["Alternative titles", "INSULIN-DEPENDENT DIABETES MELLITUS 6"]}
Emetophobia SpecialtyPsychology Emetophobia is a phobia that causes overwhelming, intense anxiety pertaining to vomit. This specific phobia can also include subcategories of what causes the anxiety, including a fear of vomiting or seeing others vomit.[1] It is common for emetophobics to be underweight or malnourished due to strict diets and restrictions they make for themselves. The thought of someone possibly vomiting can cause the phobic person to engage in extreme behaviors to escape the perceived threat of that particular situation, in which the phobic person will go to great lengths to avoid even potential situations that could even be perceived as "threatening". Emetophobia is clinically considered an "elusive predicament" because limited research has been done pertaining to it.[2] The fear of vomiting receives little attention compared with other irrational fears.[3][4] The event of vomiting may make anyone with this peculiar phobia flee the scene. Some may fear someone throwing up, while others may fear themselves throwing up. Some may have both. Some may have anxiety which makes them feel like they will throw up when they actually might not. People with emetophobia usually suffer from anxiety; they often may scream, cry, or if it is severe, possibly pass out when someone or something has been sick. ## Contents * 1 Presentation * 1.1 Complications * 1.1.1 Emetophobia and anorexia * 2 Causes * 3 Treatments * 3.1 Assessment * 3.2 Medications * 3.3 Exposure treatments * 4 Etymology * 5 Notable people with emetophobia * 6 See also * 7 Notes and references ## Presentation[edit] ### Complications[edit] Emetophobics may also suffer from other complicating disorders and phobias, such as social anxiety, fear of flying and agoraphobia. These three are very common, because people who fear vomiting are often terrified of doing so, or encountering it, in a public place. Therefore, they may restrict their social activities so they avoid any situations with alcohol or dining out in restaurants. Emetophobics may also limit exposure to children for fear of germs. Females who suffer from this disorder delayed pregnancy or avoided it altogether because of the fear of morning sickness. People who have a fear of vomiting may avoid travel because of the worry about motion sickness or others experiencing it around them. They may also fear roller coasters for the same reason. Dr. Lipsitz et al.'s findings also showed that those afflicted with emetophobia often have difficulties comfortably leading a normal life.[1] Many find that they have problems being alone with young children, and they may also avoid social gatherings where alcohol is present.[1] Retaining an occupation becomes difficult for emetophobics. Professions and personal goals can be put on hold due to the high anxiety associated with the phobia,[4] and travelling becomes almost impossible for some.[1] In Lipsitz et al.'s survey, women afflicted with emetophobia said that they either delayed pregnancy or avoided pregnancy altogether because of the morning sickness associated with the first trimester,[1][5] and if they did become pregnant, it made pregnancy difficult.[1] Other inhibitions on daily life can be seen in meal preparation.[1] Many emetophobic people also have specific "rituals" for the food they eat and how they prepare it.[1] They frequently check the freshness of the food along with washing it several times in order to prevent any potential sicknesses that they could contract from foods not handled properly.[1] Eating out is also avoided, if possible, and when asked Lipsitz et al.'s survey, many felt they were underweight because of the strict diets that they put upon themselves.[1] #### Emetophobia and anorexia[edit] There are some cases where anorexia is the result of a fear of vomiting instead of the typical psychological problems that trigger it.[4] In Frank M. Datillio's clinical case study, a situation where anorexia results from emetophobia is mentioned. Datillio says, "...in one particular case report, atypical anorexia in several adolescent females occurred as a result of a fear of vomiting that followed a viral illness as opposed to the specific desire to lose weight or because of an anxiety reaction.".[4] It is not clear that this should be termed "anorexia", however. In cases such as this, many emetophobes may also have avoidant/restrictive food intake disorder (ARFID), which is characterized by a general disinterest in food, sensory issues with food (taste, texture, look, smell) or a fear of adverse consequences from eating (vomiting or choking). Oftentimes, this phobia is comorbid with several others, making it necessary to deal with each phobia individually in order for the patient to recover fully. For example, it is common for emetophobics to also suffer from a fear of food, known as cibophobia, where the sufferer worries that the food they are eating is carrying pathogens that can cause vomiting. As such, people will develop specific behaviors that will, in their minds, make the food safe to eat, such as a ritualistic type of washing or the intentional overcooking of meat to avoid the intake of harmful pathogens. In time, these fears can become so ingrained that the person who has them can begin to suffer from anorexia nervosa. Again, it is not clear that this should be deemed "anorexia" rather than, for instance OCD, given this different presentation. ## Causes[edit] There is a strong agreement in the scientific community that there is no specific cause of emetophobia. Some emetophobics report a traumatic experience with vomiting, always in childhood. Some suggest that sufferers are victims of childhood abuse – sexual or physical. While this is occasionally true, it seems to be no more prevalent than in the general population (Christie, 2004). Some experts believe that emetophobia may be linked to worries about lack of control. Many people try to control themselves and their environment in every possible way, but vomiting is difficult or impossible to control which can lead to anxiety or in other cases severe anxiety.[6] There are many factors that can cause a legitimate case of emetophobia. Dr. Angela L. Davidson et al. conducted an experiment where it was concluded through various surveys that people suffering from emetophobia are more likely to have an internal locus of control pertaining to their everyday life as well as health-related matters.[2] A locus of control is an individual's perception of where control comes from. Having an internal locus of control means that an individual perceives that they have their own control over a situation, whereas an external locus of control means that an individual perceives that some things are out of their control. She explains how this phobia is created through the locus of control by stating, "Thus far, it seems reasonable to stipulate that individuals with a vomiting phobia deem events as being within their control and may therefore find it difficult to relinquish this control during the act of vomiting, thus inducing a phobia."[2] In an internet survey conducted by Dr. Joshua D. Lipsitz et al. given to emetophobic people, respondents gave many different reasons as to why they became emetophobic. Among some of the causes listed were several severe bouts of vomiting as children and being firsthand witnesses to many severe vomiting in others due to illness, pregnancy or alcoholism.[1] ## Treatments[edit] ### Assessment[edit] There are two assessment tools used to diagnose emetophobia: the Specific Phobia of Vomiting inventory[7] and the Emetophobia Questionnaire.[8] They are self-report questionnaires that focus on a different range of symptoms. There have been a limited number of studies in regard to emetophobia.[2] Victims of the phobia usually experience fear before vomiting but feel less afterwards. The fear comes back, however, if the victim fears they will throw up again. ### Medications[edit] Also noted in the emetophobia internet survey was information about medications. People were asked whether they would consider taking anxiety medication to potentially help their fear, and many in the study answered they wouldn't for fear that the drugs would make them nauseated.[1] Others, however, stated that some psychotropic medications (such as benzodiazepines and antidepressants) did help with their phobia, and some said gastrointestinal medications were also beneficial.[1] ### Exposure treatments[edit] Exposure methods, using video-taped exposure to others vomiting,[9] hypnosis,[10] exposure to nausea[11] and exposure to cues of vomiting,[12] systemic behavior therapy,[13] psychodynamic[14] and psychotherapy[15] have also shown positive effects for the treatment of emetophobia. However, in some cases it may cause re-traumatization, and the phobia may become more intense as a result. ## Etymology[edit] The root word for emetophobia is "emesis", from the Greek word emein, which means "an act or instance of vomiting",[16] with "-phobia" meaning "an exaggerated usually inexplicable fear of a particular object, class of objects, or situation."[17] People with emetophobia frequently report a vomit related traumatic event, such as a long bout of stomach flu, accidentally vomiting in public or having to witness someone else vomit, as the start of the emetophobia.[18] They may also be afraid of hearing that someone is feeling like vomiting or that someone has vomited, usually in conjunction with the fears of seeing someone vomit or seeing vomit. ## Notable people with emetophobia[edit] * Charlie Brooker[19] * Denise Richards[20] * Ashley Benson[21] * Christina Pazsitzky[22] * Bella Ramsey[23] ## See also[edit] * List of phobias * Emetophilia * Mysophobia * Anthropophobia * Sitophobia * Nosocomephobia * Nosophobia * Pharmacophobia * Tokophobia ## Notes and references[edit] 1. ^ a b c d e f g h i j k l m Lipsitz, Joshua D., et al. "Emetophobia: Preliminary Results of an Internet Survey." Depression & Anxiety (1091–4269) 14.2 (2001): 149-52. 2. ^ a b c d Davidson, Angela L., Christopher Boyle, and Fraser Lauchlan. "Scared to Lose Control? General and Health Locus of Control in Females with a Phobia of Vomiting." Journal of Clinical Psychology 64.1 (2008): 30-9. 3. ^ Boschen, M. J. (2007). Reconceptualizing emetophobia: a cognitive-behavioral formulation and research agenda. Journal of Anxiety Disorders, 21, 407-419. doi: 10.1016/j.janxdis.2006.06.007 4. ^ a b c d Frank M. Dattilio. "Emetic Exposure and Desensitization Procedures in the Reduction of Nausea and a Fear of Emesis." Clinical Case Studies 2.3 (2003): 199-210. 5. ^ Nelson-Percy, C. "Treatment of Nausea and Vomiting in Pregnancy: When should it be Treated and what can be Safely Taken?" Drug Safety 19.2 (1998): 155-64. 6. ^ Fritscher, L. (2009). Emetophobia Fear of Vomiting. About.com Health's Disease and Condition. Retrieved from http://phobias.about.com/od/phobiaslist/a/emetophobia.htm 7. ^ Veale, D., Ellison, N., Boschen, M. J., Costa, A., Whelan, C., Muccio, F., & Henry, K. (2012). Development of an inventory to measure specific phobia of vomiting (emetophobia). Cognitive Therapy And Research, doi:10.1007/s10608-012-9495-y 8. ^ Boschen, M & Riddell, T. (2005) Emetophobia QuestionnaireQ). (Unpublished) 9. ^ McFadyen M, Wyness J (1983). You don't have to be sick to be a behaviour therapist but it can help! Treatment of a vomit phobia. Behavioural Psychotherapy 11, 173–176. 10. ^ Wijesinghe B (1974). A vomiting phobia overcome by one session of flooding with hypnosis. Journal of Behavior Therapy and Experimental Psychiatry 5, 169–170. 11. ^ Lesage A, Lamontagne Y (1985). Paradoxical intention and exposure in vivo in the treatment of psychogenic nausea: report of two cases. Behavioural Psychotherapy 13, 69–75. 12. ^ Hunter PV, Antony MM (2009). Cognitive-behavioral treatment of emetophobia: the role of interoceptive exposure. Cognitive and Behavioral Practice 16, 84–91. 13. ^ O'Connor JJ (1983). Why can't I get hives: brief strategic therapy with an obsessional child. Family Process 22, 201–209. 14. ^ Ritow JK (1979). Brief treatment of a vomiting phobia. American Journal of Clinical Hypnosis 21, 293–296. 15. ^ Manassis K, Kalman E (1990). Anorexia resulting from fear of vomiting in four adolescent girls. Canadian Journal of Psychiatry 35, 548–550. 16. ^ "Emesis - Definition and More from the Free Merriam-Webster Dictionary". Merriam-webster.com. 2012-08-31. Retrieved 2013-01-04. 17. ^ "Phobia - Definition and More from the Free Merriam-Webster Dictionary". Merriam-webster.com. 2012-08-31. Retrieved 2013-01-04. 18. ^ Becker, E. S., Rinck, M., Türke, V., Kause, P., Goodwin, R., Neumer, S., & Margraf, J. (2007). Epidemiology of specific phobia subtypes: Findings from the Dresden Mental Health Study. European Psychiatry, 22, 69-74. 19. ^ Brooker, Charlie (2008-01-14). "Guardian". The Guardian. London. Retrieved 2009-12-31. 20. ^ "Contact music". Retrieved 2009-09-17. 21. ^ "Ashley Benson Interview In Complex-Type A". June–July 2014. 22. ^ Segura, Tom; Pazsitzky, Christina. "Tom Segura Surprises Christina P w/ Barf Clips - YMH Highlight". YouTube. YourMomsHousePodcast. 23. ^ "The Worst Witch's Bella.Cringe Questions". 2019-01-05. [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	Emetophobia	c2938961	29,350	wikipedia	https://en.wikipedia.org/wiki/Emetophobia	2021-01-18T18:40:19	{"wikidata": ["Q175844"]}
For a discussion of genetic heterogeneity of quantitative trait loci for stature (STQTL), see STQTL1 (606255). Mapping Deng et al. (2002) performed genomewide linkage analysis on a sample of 53 pedigrees containing 1,249 sib pairs, 1,098 grandparent-grandchildren pairs, 1,993 avuncular pairs, and 1,172 first-cousin pairs. The study suggested several genomic regions linked with variation in height, including Xq25 at DXS1001 (2-point lod score of 1.91). Analyzing a sample of 1,816 individuals from 79 pedigrees, Liu et al. (2003) presented linkage evidence suggesting that a quantitative trait locus underlying height may lie at Xq24-q25 (2-point lod score of 2.66 at marker DXS8067). In another paper analyzing the same cohort of 79 pedigrees, Liu et al. (2004) reported a maximum 2-point lod score of 2.64 at DXS8067. Liu et al. (2006) reported results of genomewide linkage analysis for stature in an extended sample of 3,726 Caucasians, including 1,816 individuals from previous linkage studies performed by the same group (Deng et al., 2002; Liu et al., 2004). The 3,726 subjects came from 434 pedigrees. A maximum 2-point lod score of 5.63 was found on Xq24 at marker GATA165B12P located at 133 cM pter, confirming the findings of previous studies. [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	STATURE QUANTITATIVE TRAIT LOCUS 6	c1845115	29,351	omim	https://www.omim.org/entry/300591	2019-09-22T16:20:01	{"omim": ["300591"]}
Not to be confused with XYY syndrome. Human disease Klinefelter syndrome Other namesXXY syndrome, Klinefelter's syndrome, Klinefelter-Reifenstein-Albright syndrome 47,XXY karyotype Pronunciation * /ˈklaɪnfɛltər/ SpecialtyMedical genetics SymptomsAbove average height, weaker muscles, poor coordination, less body hair, breast growth, less interest in sex, infertility.[1] ComplicationsInfertility, autoimmune disorders, breast cancer, venous thromboembolic disease, osteoporosis Usual onsetAt fertilisation[2] DurationLong term CausesTwo or more X chromosomes in males[3] Risk factorsOlder mother[4] Diagnostic methodGenetic testing (karyotype)[5] PreventionNone TreatmentPhysical therapy, speech and language therapy, counseling[6] PrognosisNearly normal life expectancy[7] Frequency1:500 to 1:1,000 males[4][8] Klinefelter syndrome (KS), also known as 47,XXY is the set of symptoms that result from two or more X chromosomes in males.[3] The primary features are infertility and small poorly functioning testicles.[3][9] Often, symptoms are subtle and subjects do not realize they are affected.[1] Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex.[1] Often it is only at puberty that these symptoms are noticed.[5] Intelligence is usually normal; however, reading difficulties and problems with speech are more common.[1] Symptoms are typically more severe if three or more X chromosomes are present (48,XXXY syndrome or 49,XXXXY syndrome).[1] Klinefelter syndrome occurs randomly.[4][10] The extra X chromosome comes from the father and mother nearly equally.[11] An older mother may have a slightly increased risk of a child with KS.[4] The syndrome is defined by the presence of at least one extra X chromosome in addition to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46.[9] KS is diagnosed by the genetic test known as a karyotype.[5] While no cure is known, a number of treatments may help.[7] Physical therapy, speech and language therapy, counselling, and adjustments of teaching methods may be useful.[6] Testosterone replacement may be used in those who have significantly lower levels.[6] Enlarged breasts may be removed by surgery.[6] About half of affected males have a chance of fathering children with the help of assisted reproductive technology, but this is expensive and not risk free.[6] XXY males appear to have a higher risk of breast cancer than typical, but still lower than that of females.[12] People with the condition have a nearly normal life expectancy.[7] Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births.[4][8] It is named after American endocrinologist Harry Klinefelter, who identified the condition in the 1940s.[13] In 1956, the extra X chromosome was identified as the cause.[14] Mice can also have the XXY syndrome, making them a useful research model.[15] ## Contents * 1 Signs and symptoms * 1.1 Prenatal * 1.2 Physical * 1.3 Cognitive and developmental * 2 Cause * 2.1 Variations * 3 Diagnosis * 4 Treatment * 4.1 Infertility treatment * 5 Prognosis * 6 Epidemiology * 7 History * 8 People with Klinefelter syndrome * 9 See also * 10 References * 11 Further reading * 12 External links ## Signs and symptoms[edit] A person with typical untreated (surgery/hormones) Klinefelter 46,XY/47,XXY mosaic, diagnosed at age 19 – the scar from biopsy may be visible on left nipple. The primary features are infertility and small poorly functioning testicles.[3][9] Often, symptoms may be subtle and many people do not realize they are affected.[1] Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body hair, breast growth, and less interest in sex.[1] Often it is only at puberty that these symptoms are noticed.[5] ### Prenatal[edit] It has been estimated that 60% of infants with Klinefelter syndrome result in miscarriage.[16] ### Physical[edit] As babies and children, XXY males may have weaker muscles and reduced strength. As they grow older, they tend to become taller than average. They may have less muscle control and coordination than other boys of their age.[17] During puberty, the physical traits of the syndrome become more evident; because these boys do not produce as much testosterone as other boys, they have a less muscular body, less facial and body hair, and broader hips. As teens, XXY males may develop breast tissue[18] and also have weaker bones, and a lower energy level than other males.[17] By adulthood, XXY males look similar to males without the condition, although they are often taller. In adults, possible characteristics vary widely and include little to no sign of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue).[19] Gynecomastia is present in about a third of affected individuals, a slightly higher percentage than in the XY population. About 10% of XXY males have gynecomastia noticeable enough that they may choose to have cosmetic surgery.[20] Affected males are often infertile, or have reduced fertility. Advanced reproductive assistance is sometimes possible.[21] It has been estimated that 50% of males with Klinefelter syndrome can produce sperm.[22] The term hypogonadism in XXY symptoms is often misinterpreted to mean "small testicles" when it means decreased testicular hormone/endocrine function. Because of (primary) hypogonadism, individuals often have a low serum testosterone level, but high serum follicle-stimulating hormone and luteinizing hormone levels.[23] Despite this misunderstanding of the term, however, XXY men may also have microorchidism (i.e., small testicles).[23] The testicles of affected males are usually less than 2 cm in length (and always shorter than 3.5 cm[24]), 1 cm in width, and 4 ml in volume.[25][26] XXY males are more likely than other men to have certain health problems, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis.[17][27] In contrast to these potentially increased risks, rare X-linked recessive conditions are thought to occur less frequently in XXY males than in normal XY males, since these conditions are transmitted by genes on the X chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions.[citation needed] ### Cognitive and developmental[edit] Some degree of language learning or reading impairment may be present,[28] and neuropsychological testing often reveals deficits in executive functions, although these deficits can often be overcome through early intervention.[29] Also, delays in motor development may occur, which can be addressed through occupational and physical therapies.[30] XXY males may sit up, crawl, and walk later than other infants; they may also struggle in school, both academically and with sports.[17] It’s estimated that 10% of men with Klinefelter syndrome are Autistic.[31] ## Cause[edit] Birth of a cell with karyotype XXY due to a nondisjunction event of one X chromosome from a Y chromosome during meiosis I in the male Birth of a cell with karyotype XXY due to a nondisjunction event of one X chromosome during meiosis II in the female Maternal age is the only known risk factor.[11] Women at 40 years have a four times higher risk for a child with Klinefelter syndrome than women aged 24 years.[32][33] The extra chromosome is retained because of a nondisjunction event during paternal meiosis I, maternal meiosis I, or maternal meiosis II (gametogenesis). The relevant nondisjunction in meiosis I occurs when homologous chromosomes, in this case the X and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Fertilizing a normal (X) egg with this sperm produces an XXY offspring (Klinefelter). Fertilizing a double X egg with a normal sperm also produces an XXY offspring (Klinefelter).[34] Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. Nondisjunction occurs when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. An XX egg is produced, which when fertilized with a Y sperm, yields an XXY offspring. This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in about one in 500 live male births.[17] See also Triple X syndrome. In mammals with more than one X chromosome, the genes on all but one X chromosome are not expressed; this is known as X inactivation. This happens in XXY males, as well as normal XX females.[35] However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes have corresponding genes on their Y chromosome and are capable of being expressed.[36] ### Variations[edit] 48,XXYY or 48,XXXY occurs in one in 18,000–50,000 male births. The incidence of 49,XXXXY is one in 85,000 to 100,000 male births.[37] These variations are extremely rare. Additional chromosomal material can contribute to cardiac, neurological, orthopedic, and other anomalies. Approximately 15–20%[38] of males with KS may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Often symptoms are milder in mosaic cases, with regular male secondary sex characteristics and testicular volume even falling within typical adult ranges.[38] Another possible mosaicism is 47,XXY/46,XX with clinical features suggestive of KS and male phenotype, but this is very rare. Thus far, only about 10 cases of 47,XXY/46,XX have been described in literature.[39] Analogous XXY syndromes are known to occur in cats—specifically, the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype. As such, male cats with calico or tortoiseshell markings are a model organism for KS, because a color gene involved in cat tabby coloration is on the X chromosome.[40] ## Diagnosis[edit] The standard diagnostic method is the analysis of the chromosomes' karyotype on lymphocytes. A small blood sample is sufficient as test material. In the past, the observation of the Barr body was common practice, as well.[41] To investigate the presence of a possible mosaicism, analysis of the karyotype using cells from the oral mucosa is performed. Physical characteristics of a Klinefelter syndrome can be tall stature, low body hair and occasionally an enlargement of the breast. There is usually a small testicle volume of 1–5 ml per testicle (standard values: 12–30 ml).[42] During puberty and adulthood, low testosterone levels with increased levels of the pituitary hormones FSH and LH in the blood can indicate the presence of Klinefelter syndrome. A spermiogram can also be part of the further investigation. Often there is an azoospermia present, rarely an oligospermia.[11] Furthermore, Klinefelter syndrome can be diagnosed as a coincidental prenatal finding in the context of invasive prenatal diagnosis (amniocentesis, chorionic villus sampling). About 10% of KS cases are found by prenatal diagnosis.[43] The symptoms of KS are often variable; therefore, a karyotype analysis should be ordered when small testes, infertility, gynecomastia, long arms/legs, developmental delay, speech/language deficits, learning disabilities/academic issues, and/or behavioral issues are present in an individual.[9] ## Treatment[edit] The genetic variation is irreversible, thus there is no causal therapy. From the onset of puberty, the existing testosterone deficiency can be compensated by appropriate hormone replacement therapy.[44] Testosterone preparations are available in the form of syringes, patches or gel. If gynecomastia is present, the surgical removal of the breast may be considered for both the psychological reasons and to reduce the risk of breast cancer.[45] The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. An approach by occupational therapy is useful in children, especially those who have dyspraxia.[46] ### Infertility treatment[edit] Intracytoplasmic sperm injection Methods of reproductive medicine, such as intracytoplasmic sperm injection (ICSI) with previously conducted testicular sperm extraction (TESE), have led to men with Klinefelter's syndrome to produce biological offspring.[47] By 2010, over 100 successful pregnancies have been reported using IVF technology with surgically removed sperm material from males with KS.[48] ## Prognosis[edit] The lifespan of individuals with Klinefelter syndrome appears to be reduced by approximately 2.1 years compared to the general male population.[49] These results are still questioned data, are not absolute, and need further testing.[50] ## Epidemiology[edit] This syndrome, evenly distributed in all ethnic groups, has a prevalence of one to two subjects per every 1000 males in the general population.[32][51][52][53] However, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives.[44] 3.1% of infertile males have Klinefelter syndrome. The syndrome is also the main cause of male hypogonadism.[54] ## History[edit] The syndrome was named after American endocrinologist Harry Klinefelter, who in 1942 worked with Fuller Albright and E. C. Reifenstein at Massachusetts General Hospital in Boston, Massachusetts, and first described it in the same year.[19][55] The account given by Klinefelter came to be known as Klinefelter syndrome as his name appeared first on the published paper, and seminiferous tubule dysgenesis was no longer used. Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome.[56] In 1956 it was discovered that Klinefelter syndrome resulted from an extra chromosome.[14] Plunkett and Barr found the sex chromatin body in cell nuclei of the body. This was further clarified as XXY in 1959 by Patricia Jacobs and John Anderson Strong.[57] The first published report of a man with a 47,XXY karyotype was by Patricia Jacobs and John Strong at Western General Hospital in Edinburgh, Scotland, in 1959.[57] This karyotype was found in a 24-year-old man who had signs of KS. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award address.[58] Lili Elbe, one of the early recipients of sex reassignment surgery, may have had Klinefelter Syndrome. [59][60]John Randolph of Roanoke had a genetic condition, possible Klinefelter syndrome, that left him beardless and with a soprano prepubescent voice throughout his life.[61] ## People with Klinefelter syndrome[edit] * Caroline Cossey[62][63] * Francis Heaulme[64] * Kimber James[65][66] * Bobby Joe Long[67] * Mark Errin Rust[68] * Pedro Spajari[69] * Vijayarajamallika[70] ## See also[edit] * Aneuploidy * Intersex * Turner syndrome * XYY syndrome * XXYY syndrome * Taurodontism ## References[edit] 1. ^ a b c d e f g "What are common symptoms of Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-10-25. Archived from the original on 2 April 2015. Retrieved 15 March 2015. 2. ^ "Klinefelter syndrome". rarediseases.info.nih.gov. Archived from the original on 15 April 2019. Retrieved 15 April 2019. 3. ^ a b c d "Klinefelter Syndrome (KS): Overview". nichd.nih.gov. Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-11-15. Archived from the original on 18 March 2015. Retrieved 15 March 2015. 4. ^ a b c d e "How many people are affected by or at risk for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 15 March 2015. 5. ^ a b c d "How do health care providers diagnose Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 15 March 2015. 6. ^ a b c d e "What are the treatments for symptoms in Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2013-10-25. Archived from the original on 15 March 2015. Retrieved 15 March 2015. 7. ^ a b c "Is there a cure for Klinefelter syndrome (KS)?". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2012-11-30. Archived from the original on 17 March 2015. Retrieved 16 March 2015. 8. ^ a b "Klinefelter syndrome". Genetics Home Reference. National Library of Medicine. 2012-10-30. Archived from the original on 2012-11-15. Retrieved 2012-11-02. 9. ^ a b c d Visootsak J, Graham JM (October 2006). "Klinefelter syndrome and other sex chromosomal aneuploidies". Orphanet Journal of Rare Diseases. 1: 42. doi:10.1186/1750-1172-1-42. PMC 1634840. PMID 17062147. 10. ^ "Klinefelter Syndrome". Mayo Clinic. Archived from the original on 8 September 2020. Retrieved 27 August 2020. 11. ^ a b c Kanakis GA, Nieschlag E (September 2018). "Klinefelter syndrome: more than hypogonadism". Metabolism. 86: 135–144. doi:10.1016/j.metabol.2017.09.017. PMID 29382506. 12. ^ Brinton LA (June 2011). "Breast cancer risk among patients with Klinefelter syndrome". Acta Paediatrica. 100 (6): 814–8. doi:10.1111/j.1651-2227.2010.02131.x. PMC 4024394. PMID 21241366. 13. ^ "Klinefelter Syndrome (KS): Condition Information". nichd.nih.gov. 2013-11-15. Archived from the original on 18 March 2015. Retrieved 15 March 2015. 14. ^ a b Odom, Samuel L. (2009). Handbook of developmental disabilities (Pbk. ed.). New York: Guilford. p. 113. ISBN 9781606232484. Archived from the original on 2017-09-10. Retrieved 2017-09-02. 15. ^ Conn, P. Michael (2013). Animal models for the study of human disease (First ed.). San Diego: Elsevier Science & Technology Books. p. 780. ISBN 9780124159129. Archived from the original on 2017-09-10. Retrieved 2017-09-02. 16. ^ "Klinefelter Syndrome: Practice Essentials, Pathophysiology, Epidemiology". 2020-04-27. Cite journal requires `\|journal=` (help) 17. ^ a b c d e "Klinefelter Syndrome". Eunice Kennedy Shriver National Institute of Child Health and Human Development. 2007-05-24. Archived from the original on November 27, 2012. 18. ^ "47, XXY (Klinefelter syndrome)". University of Utah. 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Archived from the original on 6 December 2004. 64. ^ Abgrall, Jean-Francois; Luret, Samuel (2010). Inside The Mind Of A Killer. Translated by Ros Schwartz. Profile Books. p. 227. ISBN 9781847651051. 65. ^ James, Kimber [@BustyKimber] (14 March 2012). "12, I was born with klinefelters syndrome. So I was always a little different. RT @faridayasser100: ..." (Tweet) – via Twitter. 66. ^ "KimberBarbieXXX: 12, I was born". tmi.me. Archived from the original on April 26, 2012. Retrieved March 17, 2012. 67. ^ Ramsland, Katherine. "Shame and the Serial Killer: Humiliation's influence on criminal behavior needs more attention". Psychology Today. Retrieved September 13, 2020. 68. ^ Fewster, Sean (22 September 2014). "Mark Errin Rust, who murdered Megumi Suzuki and Maya Jackic, will ask SA Supreme Court to grant him a non-parole period". Adelaide Advertiser. Retrieved 9 July 2017. 69. ^ "Pedro Spajari melhora desempenho após descobrir doença rara" [Pedro Spajari improves performance after discovering rare disease]. Estadão (in Portuguese). August 24, 2018. Retrieved August 10, 2019. 70. ^ "ഇന്റര്‍ സെക്‌സും ട്രാന്‍സ്ജെന്‍ന്ററും ഒന്നല്ല; രണ്ടാണ്" [Intersex and transgender are not one in the same; Two]. aksharamonline.com (in Malayalam). Archived from the original on 2020-02-23. Retrieved 2020-02-23.CS1 maint: unfit URL (link) ## Further reading[edit] * Virginia Isaacs Cover (2012). Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by Extra X and Y Chromosomes. ISBN 978-0-615-57400-4. ## External links[edit] Classification D * ICD-10: Q98.0-Q98.4 * ICD-9-CM: 758.7 * MeSH: D007713 * SNOMED CT: 405770005 External resources * MedlinePlus: 000382 * eMedicine: ped/1252 * Patient UK: Klinefelter syndrome * Klinefelter syndrome at Curlie * 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 Authority control * GND: 4164211-9 * LCCN: sh85072641 [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	Klinefelter syndrome	c0022735	29,352	wikipedia	https://en.wikipedia.org/wiki/Klinefelter_syndrome	2021-01-18T19:05:48	{"gard": ["11920", "8705"], "mesh": ["D007713"], "umls": ["C0022735"], "wikidata": ["Q207133"]}
Adenomas of the adrenal gland are non-cancerous (benign) tumors on the adrenal gland. Most do not cause any signs or symptoms and rarely require treatment. However, some may become "active" or "functioning" which means they produce hormones, often in excess of what the adrenal glands typically produce. High levels of these hormones can lead to complications, including primary aldosteronism, Cushing's syndrome and other medical conditions. Functioning adrenal adenomas may be treated with surgery and/or medications. [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	Adenoma of the adrenal gland	c0206667	29,353	gard	https://rarediseases.info.nih.gov/diseases/5745/adenoma-of-the-adrenal-gland	2021-01-18T18:02:16	{"mesh": ["D018246"], "synonyms": ["Adrenal cortical adenoma", "Adrenal adenoma", "Adrenal incidentaloma", "Adrenocortical adenoma"]}
This article has multiple issues. Please help improve it or discuss these issues on the talk page. (Learn how and when to remove these template messages) This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (March 2018) This article may be too technical for most readers to understand. Please help improve it to make it understandable to non-experts, without removing the technical details. (January 2021) (Learn how and when to remove this template message) (Learn how and when to remove this template message) Golfer's vasculitis, exercise-induced vasculitis and hiker's rash, are names proposed by different medical researchers for a form of vasculitis resulting in a purpuric rash (bleeding from underlying tissues).[1] It is often experienced in the lower legs caused by excessive exercise in hotter temperatures. It is more common among older people. It is called 'Golfer's' due to the large amount of walking done in golf, as well as it being a sport more popular among older people, resulting in greater incidence of the condition. ## References[edit] 1. ^ Kelly, RI; Opie, J; Nixon, R (Feb 2005). "Golfer's vasculitis". The Australasian Journal of Dermatology. 46 (1): 11–4. doi:10.1111/j.1440-0960.2005.00127.x. PMID 15670170. S2CID 33076258. ## Further reading[edit] * Kelly, RI (Apr 2010). "Golfer's vasculitis vs cutaneous vasculitis exacerbated by activity". Archives of Dermatology. 146 (4): 449–50, author reply 450–1. doi:10.1001/archdermatol.2010.52. PMID 20404243. * Nixon, Rosemary L; Opie, Jacinta M; Kelly, Robert I (2005). "Golfer's vasculitis". Med J Aust. 183 (1): 32. doi:10.5694/j.1326-5377.2005.tb06886.x. S2CID 196482870. ## External links[edit] * About.com article about Golfer's vasculitis [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	Golfer's vasculitis	None	29,354	wikipedia	https://en.wikipedia.org/wiki/Golfer%27s_vasculitis	2021-01-18T18:45:58	{"wikidata": ["Q5580646"]}
A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal. [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 osteopoikilosis	c0029455	29,355	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=166119	2021-01-23T17:19:28	{"mesh": ["D010023"], "omim": ["166700"], "umls": ["C0029455", "C1833699"], "icd-10": ["Q78.8"]}
A number sign (#) is used with this entry because of evidence that hypomyelinating leukodystrophy-4 (HLD4), also known as mitochondrial Hsp60 chaperonopathy, is caused by homozygous mutation in the HSPD1 gene (118190) on chromosome 2q33. For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080. Clinical Features Magen et al. (2008) reported a large consanguineous Israeli Bedouin family with an autosomal recessive form of severe hypomyelinating leukoencephalopathy. Ten patients were examined in detail. All had onset between birth and age 3 months of hypotonia, nystagmus, and psychomotor developmental delay, followed by appearance of prominent spasticity, developmental arrest, and regression. Head circumference, which was normal at birth, showed decreased growth rate. Seizures were reported in 6 patients. Feeding problems commonly led to malnutrition and growth failure. Death usually occurred within the first 2 decades of life from aspiration pneumonia or sudden death of unknown cause. One patient presented with hydrops fetalis and died at age 2 years. Patients with the more severe course died before the age of 2 years, with some patients never gaining social eye contact or any other developmental milestone. These severely affected patients suffered from recurrent episodes of shallow breathing and lethal apneic spells during acute febrile illnesses. Patients who survived beyond the age of 2 years developed progressive limb spasticity and contractures. Plasma lactate levels were generally normal, although sometimes increased during encephalopathic episodes, and there was no evidence of ragged red fibers on muscle biopsies. MRI showed no evidence of normal myelination, regardless of the age of the patient. All patients exhibited a thin corpus callosum and various degrees of ventricular enlargement. Enlargement of sulci and subarachnoid spaces, mainly in the frontal and parietal areas, were observed in 6 of 8 patients, and the brainstem was thin in all patients. The degree of widening of cerebral sulci was in concordance with the severity of the clinical symptoms. There was a range of intrafamilial and interfamilial phenotypic heterogeneity in psychomotor impairment and in neurologic or developmental deterioration. Kusk et al. (2016) reported a 2-year-old boy, born to consanguineous Syrian parents, with early-onset hypotonia (within the first 3 months), followed by progressive hypertonia and hyperreflexia, failure to thrive, and severe psychomotor developmental delay. Feeding problems led to malnutrition and growth failure despite nasogastric feeding. Eye examination showed optic atrophy, horizontal nystagmus, and ocular apraxia. MRI at the age of 15 months showed diffuse lack of myelination of the hemispheres and involvement of the corticospinal tracts. Molecular Genetics By linkage studies, followed by candidate gene analysis, of a large Israeli Bedouin family with autosomal recessive hypomyelinating leukodystrophy, Magen et al. (2008) identified a homozygous mutation in the HSPD1 gene (D29G; 118190.0002). The authors suggested the designation 'MitCHAP60 disease.' In a 2-year-old boy, born to consanguineous Syrian parents, with autosomal recessive hypomyelinating leukodystrophy, Kusk et al. (2016) identified homozygosity for the same HSPD1 D29G mutation previously identified in a family by Magen et al. (2008). Kusk et al. (2016) noted that the families could be distantly related. INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, acquired Eyes \- Nystagmus \- Strabismus RESPIRATORY \- Apneic episodes \- Shallow breathing ABDOMEN Gastrointestinal \- Feeding difficulties SKELETAL \- Joint contractures NEUROLOGIC Central Nervous System \- Hypotonia \- Psychomotor delay \- Mental retardation, profound \- No head control \- Seizures \- Spasticity, progressive \- Hyperreflexia \- Extensor plantar responses \- Choreoathetosis \- MRI shows no normal myelination \- Leukodystrophy, hypomyelinating LABORATORY ABNORMALITIES \- Intermittent increase of urinary ethylmalonic acid \- Serum lactate may be increased during encephalopathic exacerbations MISCELLANEOUS \- Onset between birth and 3 months of age \- Usually fatal in first 2 decades \- Exacerbation during febrile episodes \- Allelic disorder to autosomal dominant SPG13 ( 605280 ) MOLECULAR BASIS \- Caused by mutation in the heat-shock 60-Kd protein 1 gene (HSPD1, 118190.0002 ) ▲ 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	LEUKODYSTROPHY, HYPOMYELINATING, 4	c2677109	29,356	omim	https://www.omim.org/entry/612233	2019-09-22T16:02:05	{"doid": ["0060789"], "mesh": ["C567390"], "omim": ["612233"], "orphanet": ["280270", "280288"], "synonyms": ["MITOCHONDRIAL HSP60 CHAPERONOPATHY", "Mitochondrial HSP60 chaperonopathy", "PMLD", "MITCHAP60 DISEASE", "Alternative titles"]}
## Summary ### Clinical characteristics. EPB42-related hereditary spherocytosis (EPB42-HS) is a chronic non-immune hemolytic anemia that is usually of mild to moderate severity. EPB42-HS can present with jaundice as early as the first 24 hours of life or can present later in childhood with anemia resulting from a hemolytic crisis or aplastic crisis (usually associated with a viral infection). In addition to the hematologic manifestations, serious complications include splenomegaly that can become evident in early childhood and cholelithiasis that usually becomes evident in the second or third decade of life. Typical laboratory findings in EPB42-HS include anemia (decreased hemoglobin [Hgb] level) and reticulocytosis (increased percent of reticulocytes), with high mean corpuscular hemoglobin concentration (MCHC), presence of spherocytes in the peripheral blood smear, significantly decreased or absent haptoglobin, mildly increased osmotic fragility, and decreased maximal deformability index (DImax) with increased Omin (osmolality at which 50% of red blood cells hemolyze) measured by ektacytometry. ### Diagnosis/testing. The diagnosis of EPB42-HS is established by the identification of biallelic pathogenic variants in EPB42. ### Management. Treatment of manifestations: Treatment for mild EPB42-HS (Hgb 11-15 g/dL, reticulocytes 3%-8%) includes folic acid supplementation (400 µg 1x daily until age 1 year; 1 mg 1x daily thereafter) and RBC transfusion as needed for a hemolytic or aplastic crisis. Although splenectomy is rarely indicated in EPB42-HS since disease severity is usually mild or moderate, it may be recommended in those with moderately severe EPB42-HS (Hgb 6-8 g/dL, reticulocytes ≥10%) who are older than age five years when quality of life is compromised. Although curative, splenectomy entails a long-term increased risk for potential life-threatening infection, and thus requires complete immunizations before the procedure and antibiotic prophylaxis after. Affected individuals with a history of cholelithiasis should have cholecystectomy at the time of splenectomy. Prevention of primary manifestations: See Treatment of manifestations for information on use of splenectomy. Prevention of secondary complications: Regular immunizations to prevent infections that can trigger a hemolytic or aplastic crisis. Iron overload is a risk especially if frequent transfusions are required; treatment with an iron chelator is typically begun after about ten transfusions (which correlate to a serum ferritin concentration of approximately 1,000 ng/mL). Surveillance: Neonates require monitoring of serum bilirubin concentration during the first week of life and infants require monitoring of Hgb in the first two to four months of life to screen for significant anemia. Those dependent on frequent transfusions and those receiving iron chelation therapy require monitoring of serum ferritin concentration. Abdominal ultrasound examination to evaluate for cholelithiasis either when symptoms are present or, when hemolysis is significant, by age ten to 12 years, and every five to ten years thereafter. Agents/circumstances to avoid: Any preparations containing iron; however, if iron studies have documented iron deficiency, treatment with supplemental iron must be closely monitored and then discontinued when iron stores have been repleted. Avoidance of contact sports is recommended in those with splenomegaly; of note, acute or excessive splenomegaly is a greater risk than chronic mild splenomegaly. Evaluation of relatives at risk: When EPB42-HS has been diagnosed in a family member, the following is recommended for at-risk sibs: (1) Neonates at risk require monitoring of serum bilirubin concentration during the first week of life so that treatment for hyperbilirubinemia can be instituted promptly; and (2) infants at risk require monitoring in the first two to four months of life for significant anemia, which may require RBC transfusion and initiation of folate supplementation. Laboratory evaluation (CBC and reticulocyte count, blood smear, osmotic fragility or ektacytometry) and/or molecular genetic testing for the EPB42 pathogenic variants in the family (if known) is appropriate for at-risk relatives. Pregnancy management: Folic acid supplementation (800-1,000 µg daily) is necessary; monitoring for exacerbation of anemia with CBC and reticulocyte count is recommended. ### Genetic counseling. EPB42-HS is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk relatives and prenatal testing for a pregnancy at increased risk are possible if the pathogenic variants in the family have been identified. ## Diagnosis ### Suggestive Findings EPB42-related hereditary spherocytosis (EPB42-HS) should be suspected in individuals with any of the following clinical and supportive laboratory findings: Clinical findings * Pallor and/or fatigue due to anemia, which is usually of mild to moderate severity * Jaundice * Usually intermittent and caused by unconjugated hyperbilirubinemia resulting from exacerbated hemolysis * In rare cases, caused by conjugated hyperbilirubinemia resulting from biliary obstruction * Splenomegaly * Cholelithiasis in the second or third decade of life * Family history consistent with autosomal recessive inheritance Note: Absence of a family history of EPB42-HS does not preclude the diagnosis. Supportive laboratory findings * Complete blood count consistent with: * Chronic, non-immune hemolytic anemia (decreased hemoglobin with reticulocytosis), usually of mild to moderate severity * Decreased hemoglobin (Hgb) level (See Table 1 for Hgb levels that define the severity of hereditary spherocytosis.) Note: Hgb values in EPB42-HS may also vary depending on the clinical status of the affected individual (baseline or during a hemolytic or aplastic crisis). * Increased percent of reticulocytes as well as increased absolute reticulocyte count (ARC) (See Table 1 for percent of reticulocytes that define the severity of hereditary spherocytosis.) Note: Percent of reticulocytes may vary (depending on baseline or crisis status) from 2.5 to greater than 10% (or even normal or low when in aplastic crisis). * High mean corpuscular hemoglobin concentration (MCHC). Normal values are typically 31-37 g/dL. Values in HS are usually 35.5-37.5 g/dL. * Negative (i.e., normal) direct anti-globulin test (DAT) Note: DAT should always be evaluated in a person with newly diagnosed hemolytic anemia to evaluate for an acute immune-mediated (acquired) hemolytic anemia. * Peripheral blood smear demonstrating presence of spherocytes and occasionally a few ovalocytes and elliptocytes Note: The term spherocyte refers to the sphere-shaped red blood cells (with a decreased surface/volume ratio) that characterize the RBC cytoskeleton disorders (see Differential Diagnosis). * Significantly decreased or absent haptoglobin. After age six months normal haptoglobin values are 16-200 mg/dL. In HS, haptoglobin is typically undetectable; however, haptoglobin can be normal in the presence of concurrent inflammation (as it is an acute phase reactant). * Mildly increased osmotic fragility (as in Figure 1B of Hammill et al [2011]; see full text) * Decreased maximal deformability index (DImax) and increased Omin (osmolality at which 50% of red blood cells hemolyze) measured by ektacytometry, giving a typical HS curve [Clark et al 1983, Hammill et al 2011] ### Table 1. Severity of Hereditary Spherocytosis View in own window SeverityHgb (g/dL)Reticulocytes (%)Splenectomy Mild11-153-8Not necessary Moderate8-11.5>8Consider if activity level & quality of life are decreased Moderately severe6-8≥10Indicated at age >5 yrs Severe<6≥10Indicated at age >3 yrs Normal 111.7-15.7 (adult females) 13.3-17.7 (adult males)0.5-1.5 2 Based on table by Eber & Lux [2004] 1\. Normal values may vary somewhat depending on age and gender. 2\. ARC 45-90 x 103/µL ### Establishing the Diagnosis The diagnosis of EPB42-related hereditary spherocytosis is established in a proband by the identification of biallelic pathogenic variants in EPB42 (see Table 2). Molecular genetic testing approaches can include single-gene testing or use of a multigene panel: * Single-gene testing. Sequence analysis of EPB42 is performed. * A multigene panel that includes EPB42 and other genes of interest (see Differential Diagnosis) may also be considered. 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 2. Molecular Genetic Testing Used in EPB42-Related Hereditary Spherocytosis View in own window Gene 1MethodProportion of Probands with Pathogenic Variants 2 Detectable by Method EPB42Sequence analysis 316/16 4 Gene-targeted deletion/duplication analysis 5Unknown 6, 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\. Most are case reports with no information on the number of individuals with hereditary spherocytosis who did not have pathogenic variants identified in EPB42 [Kanzaki et al 1997, Toye et al 2008]. 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\. No data on detection rate of gene-targeted deletion/duplication analysis are available. 7\. The only gross deletion reported to date is a 32-base pair deletion [Hammill et al 2011] that is expected to be detectable by sequence analysis. ## Clinical Characteristics ## Differential Diagnosis ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with EPB42-related hereditary spherocytosis (EPB42-HS), the following evaluations are recommended: * Hemoglobin concentration and reticulocyte count to evaluate severity of disease * Serum bilirubin concentration * Transfusion history * Serum ferritin concentration to evaluate iron load status * Abdominal ultrasound examination to evaluate: * Spleen size if physical examination is not conclusive due to body habitus or if contact sports are contemplated * For evidence of cholelithiasis when symptoms are present. If hemolysis is significant a screening ultrasound may be considered after age 10-12 years, even without symptoms. * Consultation with a clinical geneticist and/or genetic counselor ### Treatment of Manifestations Detailed management guidelines for hereditary spherocytosis (HS) have been published [Eber & Lux 2004, Bolton-Maggs et al 2012]. Conservative management recommendations for mild EPB42-HS (Hgb 11-15 g/dL, reticulocytes 3-8%) (Table 1) include the following: * Folic acid supplementation (400 µg 1x daily until age 1 year; then 1 mg 1x daily thereafter) * Avoidance of iron supplementation unless concurrent iron deficiency is confirmed with iron studies, in which case treatment with supplemental iron should be carefully monitored and discontinued after iron stores are repleted to avoid iron overload Note: Hereditary spherocytosis (as all chronic hemolytic anemias) involves an increased risk for iron overload even with oral iron supplementation (see Prevention of Secondary Complications). * Red blood cell (RBC) transfusion, if needed, for hemolytic or aplastic crisis Splenectomy is rarely indicated in EPB42-HS, as disease severity is usually mild or moderate. However, when disease is moderate (see Table 1) and normal activity or quality of life is compromised, splenectomy can be performed after age five years provided that hereditary stomatocytosis has been ruled out (see Differential Diagnosis). Note: Total splenectomy is not recommended for children younger than age five years even if the child requires frequent transfusions for moderately severe HS (which is rare in EPB42-HS). Although splenectomy is curative, it entails potential long-term increased risk for life-threatening infection and, thus, should not be undertaken before the risks and benefits have been fully weighed [Casale & Perrotta 2011]. Ideally, the following immunizations should be completed before splenectomy: * Immunizations for Streptococcus pneumoniae with the 23-valent pneumococcal polysaccharide vaccine (PPSV23) and for N meningitidis with a meningococcal conjugate vaccine against the serogroups A, C, W, and Y (MenACWY) at least two weeks before splenectomy. A two-dose primary series of MenACWY is recommended 8-12 weeks apart [Committee on Infectious Diseases 2011]. * Prevnar-13® and H influenzae type b vaccines during infancy per general pediatric immunization guidelines The incidence of post-splenectomy sepsis varies among studies. Although low overall, the risk for sepsis, a life-threatening complication, is higher than in the general population [Iolascon et al 1998]. To reduce the risk of infection post splenectomy, the following are recommended: * Give booster vaccination for PPSV23 five years after the first dose. No more than two PPSV23 doses are recommended [Nuorti et al 2010]. * Give booster dose for meningococcal vaccine three years after the primary series if the primary two-dose series was given between ages two and six years and every five years for persons whose two-dose primary series or booster dose was given at age seven years or older [Cohn et al 2013]. * Serogroup B meningococcal vaccines are recommended for people age ten years and older with history of splenectomy. Controversy exists regarding the duration of use of antibiotics for prophylaxis post-splenectomy: some hematologists recommend prophylactic antibiotics for the first three years post splenectomy and others for life [Eber & Lux 2004]. The antibiotics recommended are penicillin V-K 250 mg twice daily or erythromycin for those allergic to penicillin. In any case, an individual who has undergone splenectomy needs immediate medical attention for fever and prompt use of IV antibiotics with good coverage for encapsulated organisms (typically ceftriaxone in doses adequate to treat meningitis: 100 mg/kg/day up to 2 g/day in single daily dose). Partial splenectomy appears to be associated with a lesser risk for post-splenectomy sepsis and a sustained decrease (although not elimination) of hemolysis and may be preferable for young children if the surgeon is experienced in the procedure [Bader-Meunier et al 2001]. An ongoing prospective observation of more than 100 children in a congenital hemolytic anemia multi-institutional registry, who have undergone total or partial splenectomy, may elucidate better the risks and benefits of each procedure [Rice et al 2012, Rice et al 2015]. Antibiotic prophylaxis may be discontinued one year after partial splenectomy if immune splenic function is adequate as assessed by pit count (percentage of pitted or pocked red cells) or the uptake of radioactive colloid by the spleen [Eber & Lux 2004]. Cholecystectomy * The gallbladder should be removed in affected individuals undergoing splenectomy who have a history of cholelithiasis. * In children who require cholecystectomy, concurrent splenectomy is not recommended automatically any more. The need for splenectomy should be assessed on a case-by-case basis and the indication of splenectomy justified independently [Bolton-Maggs et al 2012, Ruparel et al 2014]. ### Prevention of Primary Manifestations Splenectomy is rarely indicated in EPB42-HS, as disease severity is usually mild or moderate. Note: When indicated, splenectomy is curative; however, it can have potential life-threatening complications (see Treatment of Manifestations). Note: Total splenectomy is not recommended for children younger than age five years even if the child requires frequent transfusions for moderately severe HS (which is rare in EPB42-HS). ### Prevention of Secondary Complications Regular immunizations are recommended as well as influenza vaccine annually to prevent infections that can precipitate hemolytic or aplastic crisis. Iron overload and its associated chronic organ failure are risks with any chronic hemolytic anemia especially if frequent transfusions are required. * Treatment with an iron chelator should be implemented, typically after about ten transfusions (which correlate to a serum ferritin concentration of approximately 1000 ng/mL). * The effectiveness of chelation should be monitored by evaluation of liver iron by T2-weighted MRI or FerriScan® so that the dose of iron chelator can be adjusted appropriately. ### Surveillance Neonates with HS require monitoring of serum bilirubin concentration during the first week of life so that treatment for hyperbilirubinemia can be instituted promptly to avoid complications such as kernicterus. Infants with HS require monitoring in the first two to four months of life for significant anemia, which may require RBC transfusion Those dependent on frequent transfusions require at least annual measurement of serum ferritin concentration. If iron chelation is required secondary to frequent transfusions in children too young to undergo splenectomy, appropriate monitoring for toxicity and effectiveness of chelation treatment is necessary [Musallam et al 2013]. When hemolysis is significant, ultrasound examination to evaluate for cholelithiasis is indicated by age ten to twelve years, and every five to ten years thereafter. ### Agents/Circumstances to Avoid Any preparations containing iron should be avoided (see Treatment of Manifestations). Contact sports are not advisable in those with splenomegaly; of note, acute or excessive splenomegaly is a greater risk than chronic mild splenomegaly. ### Evaluation of Relatives at Risk It is appropriate to perform laboratory evaluation of the phenotype (CBC and reticulocyte count, blood smear, osmotic fragility or ektacytometry) and clarify the genetic status of apparently asymptomatic older and younger sibs of an affected individual by molecular genetic testing of the EPB42 pathogenic variants in the family in order to identify as early as possible those who would benefit from prompt initiation of treatment and preventive measures. Neonates require monitoring of serum bilirubin concentration during the first week of life so that treatment for hyperbilirubinemia can be instituted promptly to avoid complications such as kernicterus. * Infants require monitoring in the first two to four months of life for significant anemia, which may require RBC transfusion and initiation of folate supplementation See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. ### Pregnancy Management Folic acid supplementation (800-1000 µg daily) is necessary in pregnant women with chronic hemolytic anemias such as EPB42-HS. Monitoring for exacerbation of anemia with CBC and reticulocyte count is recommended in pregnant women with HS, as hemolytic crisis and persistent anemia have been reported during pregnancy, especially in women who have not undergone splenectomy [Pajor et al 1993]. ### Therapies Under Investigation 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	EPB42-Related Hereditary Spherocytosis	None	29,357	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK190102/	2021-01-18T21:28:58	{"synonyms": []}
Mosaic trisomy 17 is a rare chromosomal anomaly syndrome, with a highly variable clinical presentation, mostly characterized by growth delay, intellectual disability, body asymmetry with leg length differentiation, scoliosis, and congenital heart anomalies (e.g. ventricular septal defect). Prenatal ultrasound findings include intrauterine growth retardation, nuchal thickening brain anomalies (e.g. cerebellar hypoplasia), pleural effusion and single umbilical artery. Patients with no associated malformations have also 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	Mosaic trisomy 17	c1096168	29,358	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1711	2021-01-23T17:19:42	{"gard": ["5317"], "mesh": ["C538044"], "umls": ["C1096168"], "icd-10": ["Q92.1"], "synonyms": ["Mosaic trisomy chromosome 17", "Trisomy 17 mosaicism"]}
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome is characterised by sex reversal in males with a 46, XX (SRY-negative) karyotype, palmoplantar hyperkeratosis and a predisposition to squamous cell carcinoma. To date, five cases (four of whom were brothers) have been described. The aetiology is unknown. [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	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	c2674504	29,359	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85112	2021-01-23T18:04:20	{"mesh": ["C567165"], "omim": ["610644"], "icd-10": ["Q56.0"], "synonyms": ["Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome"]}
For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia and Kartagener syndrome, see CILD1 (244400). Mapping By genomewide analysis of 52 Polish families in which at least 1 member had Kartagener syndrome, Geremek et al. (2006) found linkage to a 3.5-cM (2.82 Mb) region on chromosome 15q between markers D15S973 and D15S1037. The initial pairwise maximum lod score for all families was 4.34 at D15S154 on 15q24-q25. Further analysis showed that 31 families were linked to this region, with the highest pairwise lod score for this subset being 5.75 at D15S1005. Geremek et al. (2006) concluded that this locus may be responsible for up to 60% of Kartagener syndrome families. No common haplotypes were identified. Linkage studies of 18 families with only ciliary dyskinesia and without situs inversus showed no linkage to the locus at 15q. In the same 31 families with Kartagener syndrome linked to 15q, Geremek et al. (2008) refined the candidate region to a 1.8-Mb segment containing 18 known genes. The coding regions of these genes and 3 neighboring genes were subjected to sequence analysis in 7 probands. Although 60 SNP variants, 35 of which resided in mRNA coding sequences, were identified, none of the variations alone could explain the occurrence 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	CILIARY DYSKINESIA, PRIMARY, 8	c2677085	29,360	omim	https://www.omim.org/entry/612274	2019-09-22T16:01:59	{"doid": ["0110616"], "mesh": ["C567373"], "omim": ["612274", "244400"], "orphanet": ["244"], "synonyms": ["Alternative titles", "CILIARY DYSKINESIA, PRIMARY, 8, WITH OR WITHOUT SITUS INVERSUS", "PCD"], "genereviews": ["NBK1122"]}
A number sign (#) is used with this entry because of evidence that some cases of primary spontaneous pneumothorax (PSP) are caused by heterozygous mutation in the gene encoding folliculin (FLCN; 607273) on chromosome 17p11. Description Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). Clinical Features Brock (1948) observed recurrent and chronic spontaneous pneumothorax and suggested that hereditary lung cysts were the anatomic substrate. Berlin (1950) and Boyd (1957) observed familial occurrence of spontaneous pneumothorax in patients without other stigmata of connective tissue disease. Stephenson (1976) discussed an association between spontaneous pneumothorax and apical bullae, apical scars, and sharpness of the inner border of the first or second ribs. Leman and Dines (1973) described a family in which 4 members, a man and 3 daughters, including identical twins, had recurrent spontaneous pneumothorax. Wilson and Aylsworth (1979) described unilateral pneumothorax in a newborn whose maternal grandmother and 2 maternal uncles had had pneumothorax; 1 maternal uncle died at age 2 months of bilateral pneumothorax. Rashid et al. (1986) described concurrent spontaneous pneumothorax in 71-year-old male twins. Sugiyama et al. (1986) described brothers, aged 18 and 20 years, with spontaneous pneumothorax. Although one of them was said to have had the Walker-Murdoch wrist sign characteristic of the Marfan syndrome (Walker and Murdoch, 1970), he showed no evidence of ectopia lentis or aortic root and mitral valve abnormalities on appropriate studies. Morrison et al. (1998) described a family in which the father and 3 of 6 offspring, 2 sons and 1 daughter had episodes of spontaneous pneumothorax. The age of onset varied by up to 13 years within the family. The father had pneumothorax at the age of 32 years. The older brother, a smoker, had pneumothorax at age 30; the younger brother, a nonsmoker, had 3 episodes of pneumothorax within a period of 1 year. Their sister, a smoker, presented with pneumothorax at the age of 17 years. Examination showed no signs of Marfan syndrome, Ehlers-Danlos syndrome, or other connective tissue disorders. Alpha-1-antitrypsin assays were normal. Chest radiographs showed no bullae, and respiratory function tests, including diffusion studies, were all within normal limits. Gunji et al. (2007) reported 5 unrelated patients with multiple lung cysts and recurrent spontaneous pneumothorax. The mean age at onset of first pneumothorax was 30.4 years; none of the patients had skin or renal features. All patient reported a family history of the condition. In 1 family, the proband and his affected brother inherited the disorder from their mother, who did not have pneumothorax by age 56 but did have multiple pulmonary cysts on CT scan. A sister of the mother was reportedly affected. A second family had 9 affected members, and the proband's paternal aunt had pneumothorax and renal cancer. Gunji et al. (2007) suggested that isolated pulmonary cysts and pneumothorax may be a milder form of BHD syndrome and that patients should be monitored for renal or skin lesions. Inheritance Primary spontaneous pneumothorax caused by mutations in the FLCN gene is inherited in an autosomal dominant pattern (Gunji et al., 2007). Abolnik et al. (1991) did a retrospective family survey of pneumothorax in males who had served in the Israeli Defense Forces; 286 persons with primary spontaneous pneumothorax were investigated. In 33, a family history of pneumothorax was obtained. Autosomal dominant inheritance with reduced penetrance in females was suggested by many of the pedigrees in the literature and in this study. X-linked inheritance was suggested by 11 pedigrees: in 4 families, the affected males were born to unaffected parents and were related through healthy women; in 7 families, only brothers were affected while both parents were normal. However, this pedigree pattern could also have resulted from reduced penetrance in females. The affected family reported by Morrison et al. (1998) showed autosomal dominant inheritance. Mapping By a genomewide scan in a large Finnish family with a dominantly inherited tendency to primary spontaneous pneumothorax, Painter et al. (2005) found linkage of PSP to chromosome 17p11. Molecular Genetics In affected members of a large Finnish family with autosomal dominant spontaneous pneumothorax, Painter et al. (2005) identified a heterozygous 4-bp deletion in the FLCN gene (607273.0009). All carriers of the deletion had bullous lung lesions as the only manifestation with 100% penetrance. Because of the strong association between primary spontaneous pneumothorax and the Birt-Hogg-Dube syndrome, Painter et al. (2005) suggested that patients with familial PSP may be at greater risk of developing renal cancer. In 5 of 8 patients with multiple lung cysts and recurrent spontaneous pneumothorax, Gunji et al. (2007) identified heterozygous mutations in the FLCN gene (see, e.g., 607273.0001; 607273.0010; 607273.0011). In 10 of 102 Chinese probands with spontaneous pneumothorax, Ren et al. (2008) identified 4 different mutations in the FLCN gene (see, e.g., 607273.0001; 607272.0012-607272.0013). Although only 5 of the probands reported a family history of the disorder, genetic analysis showed that 8 of the probands had family members with pneumothorax or pulmonary cysts as determined by imaging studies. Two mutation carriers from 2 different families did not have pulmonary cysts. The findings indicated reduced penetrance of both the pneumothorax phenotype and the cyst phenotype. Kunogi et al. (2010) screened the FLCN gene by DHPLC in 36 Japanese patients with multiple lung cysts of undetermined causes, all but 1 of whom had suffered at least 1 pneumothorax, and identified 13 different germline mutations in 23 of the patients, respectively. The remaining 13 patients were further analyzed by quantitative PCR, and large genomic deletions were found in 2 (see, e.g., 607273.0017); thus 25 (69.4%) of the 36 patients had germline FLCN mutations. Only 6 of the mutation-positive patients had skin lesions, and 2 others had renal tumors, 1 of which was an angiomyolipoma and the other a renal cancer (histopathologic information unavailable). Kunogi et al. (2010) noted that 13 (52%) of the 25 mutations were located in the 3-prime end of the FLCN gene, and that these Japanese patients with FLCN mutations had a very low incidence of skin and renal involvement. INHERITANCE \- Autosomal dominant RESPIRATORY Lung \- Subpleural blebs \- Bullae \- Pneumothorax MISCELLANEOUS \- Majority of cases are sporadic, often in tall, thin men \- Allelic to Birt-Hogg-Dube syndrome ( 135150 ) \- Bullae are located randomly in familial cases and apical in sporadic cases \- Incomplete penetrance MOLECULAR BASIS \- Caused by mutation in the folliculin gene (FLCN, 607273.0009 ) ▲ 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	PNEUMOTHORAX, PRIMARY SPONTANEOUS	c1868193	29,361	omim	https://www.omim.org/entry/173600	2019-09-22T16:36:06	{"doid": ["0080218"], "mesh": ["C566795"], "omim": ["173600"], "icd-9": ["512.81"], "icd-10": ["J93.11"], "orphanet": ["2903"], "synonyms": ["Alternative titles", "PSP"]}
Esterase C is a rather weakly staining acetylesterase. No variant has been found. See esterase A (168820) and esterase D (133280) for bibliography. [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	ESTERASE C	c1851476	29,362	omim	https://www.omim.org/entry/133270	2019-09-22T16:41:22	{"omim": ["133270"]}
Medulloblastoma with extensive nodularity (MBEN) is a histological variant of medulloblastoma (see this term), an embryonic malignancy, most often located in the inferior medullary velum and then growing into the fourth ventricle, and presenting in infants and young children with symptoms of increased intracranial pressure such as headache, listlessness, vomiting, diplopia and papilledema. It is often associated with Gorlin syndrome (see this term) and has a relatively good prognosis. [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	Medulloblastoma with extensive nodularity	c0751291	29,363	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=251858	2021-01-23T17:57:18	{"mesh": ["D008527"], "omim": ["155255"], "icd-10": ["C71.6"], "synonyms": ["MBEN"]}
This syndrome is characterised by the association of multiple capillary malformations (CM) with an arteriovenous malformation (AVM) and arteriovenous fistulas. ## Epidemiology So far, it has been described in multiple members of six families. ## Clinical description The CMs are atypical: they are small, round-to-oval in shape and pink-red in colour. AVMs may be cutaneous, subcutaneous, intramuscular, intraosseous or cerebral. The association of CM with arteriovenous fistulas or Parkes-Weber syndrome (see this term) was reported in some cases. ## Etiology The syndrome is caused by heterozygous mutations in the RASA1 gene (5q13.3), encoding RAS p21 protein activator 1. [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	Capillary malformation-arteriovenous malformation	c1842180	29,364	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=137667	2021-01-23T18:56:10	{"gard": ["11904"], "mesh": ["C564254"], "omim": ["608354"], "umls": ["C1842180"], "icd-10": ["Q27.3"], "synonyms": ["CM-AVM"]}
AA amyloidosis SpecialtyRheumatology AA amyloidosis is a form of amyloidosis, a disease characterized by the abnormal deposition of fibers of insoluble protein in the extracellular space of various tissues and organs. In AA amyloidosis, the deposited protein is serum amyloid A protein (SAA), an acute-phase protein which is normally soluble and whose plasma concentration is highest during inflammation.[1] ## Contents * 1 Causes * 2 Pathology * 3 Transmission of amyloidosis * 4 References * 5 External links ## Causes[edit] AA amyloidosis is a complication of a number of inflammatory diseases and infections,[2] although only a small portion of patients with these conditions will go on to develop AA amyloidosis. The most common presentation of AA amyloidosis is renal in nature, including proteinuria, nephrotic syndrome and progressive development of chronic kidney disease leading to End Stage Kidney Disease (ESKD) and need for renal replacement therapy (e.g. dialysis or kidney transplantation).[3] A natural history study of AA amyloidosis patients reported a number of conditions associated with AA amyloidosis:[1] * Autoimmune diseases * Rheumatoid arthritis * Ankylosing spondylitis * Crohn disease and ulcerative colitis * Chronic infections * Tuberculosis * Bronchiectasis * Chronic osteomyelitis * Autoinflammatory diseases * Familial Mediterranean fever (FMF) * Muckle–Wells syndrome (MWS) * Cancer * Hodgkin's lymphoma * Renal cell carcinoma * Chronic foreign body reaction * HIV/AIDS[4] * Silicone-induced granulomatous reaction[5][6][7] ## Pathology[edit] In a healthy individual, the median plasma concentration of SAA is 3 mg per liter.[8] This can increase to over 2000 mg per liter during an acute phase response and a sustained overproduction of SAA is required for the creation of the AA deposits that define AA amyloidosis.[9] High levels of SAA, however, is not a sufficient condition for the development of systemic AA amyloidosis and it remains unclear what triggers the accumulation of AA.[10] The AA protein is mainly deposited in the liver, spleen and kidney, and AA amyloidosis can lead to nephrotic syndrome and ESRD.[11][12] Natural history studies show, however, that it is the kidney involvement that drives the progression of the disease. In general, old age, reduced serum albumin concentration, end stage kidney failure, and sustained elevated SAA concentration are all associated with poor prognosis.[13] There are currently no approved treatments for systemic AA amyloidosis.[11] The current standard of care includes treatments for the underlying inflammatory disease with anti-inflammatory drugs, immunosuppressive agents or biologics. AA amyloidosis patients are also receiving treatments to slow down the decline of their renal function, such as angiotensin II receptor blockers or angiotensin converting enzyme inhibitors.[14] ## Transmission of amyloidosis[edit] There is evidence that eating amyloid fibers may lead to amyloidosis. This evidence is based on studies in cattle, chickens, mice, and cheetahs.[15] Thus, in a sense, SAA amyloidosis may be considered a contagious disease, although whether this occurs or is important in the development of naturally occurring amyloidosis remains unknown. Nevertheless, because amyloid fibers can be detected in muscle in low amounts, it raises some concern about whether people could develop amyloidosis as a result of ingesting meat from an animal with the disease.[15] ## References[edit] 1. ^ a b Lachmann HJ, Goodman HJ, Gilbertson JA, et al. (June 2007). "Natural history and outcome in systemic AA amyloidosis" (PDF). New England Journal of Medicine. 356 (23): 2361–71. doi:10.1056/NEJMoa070265. PMID 17554117. Archived from the original (PDF) on 2014-01-09. 2. ^ Chapter 5 in: Mitchell, Richard Sheppard; Kumar, Vinay; Abbas, Abul K.; Fausto, Nelson (2007). Robbins Basic Pathology. Philadelphia: Saunders. ISBN 978-1-4160-2973-1. 8th edition. 3. ^ Richa Dhawan; Mohammed Mubashir Ahmed; Eisha Mubashir; Joel N Buxbaum; Ratinder J Kaur. "AA (Inflammatory) Amyloidosis Clinical Presentation". Cite journal requires `\|journal=` (help) 4. ^ Jung, Oliver; Haack, Hans Stefan; Buettner, Maike; Betz, Christoph; Stephan, Christoph; Gruetzmacher, Peter; Amann, Kerstin; Bickel, Markus (2012). "Renal AA-amyloidosis in intravenous drug users – a role for HIV-infection?". BMC Nephrology. 13: 151. doi:10.1186/1471-2369-13-151. PMC 3519698. PMID 23171281. 5. ^ d'Ythurbide, G; Kerrou, K; Brocheriou, I; Hertig, A (2012). "Reactive amyloidosis complicated by end-stage renal disease 28 years after liquid silicone injection in the buttocks". Case Reports. 2012: bcr2012006803. doi:10.1136/bcr-2012-006803. PMC 4543521. PMID 23035166. 6. ^ Emekli, U; Tümerdem, B; Demiryont, M (2002). "Rupture of a silicone gel mammary prosthesis and amyloidosis: A case report". Aesthetic Plastic Surgery. 26 (5): 383–7. doi:10.1007/s00266-002-2022-x. PMID 12432480. S2CID 6865930. 7. ^ Goldman, A. B.; Bansal, M (1996). "Amyloidosis and silicone synovitis: Updated classification, updated pathophysiology, and synovial articular abnormalities". Radiologic Clinics of North America. 34 (2): 375–94, xi. PMID 8633122. 8. ^ Biasucci LM, Liuzzo G, Grillo RL, Caligiuri G, Rebuzzi AG, Buffon A, Summaria F, Ginnetti F, Fadda G, Maseri A (February 1999). "Elevated levels of C-reactive protein at discharge in patients with unstable angina predict recurrent instability". Institute of Cardiology, Catholic University of the Sacred Heart. 99 (7): 855–60. doi:10.1161/01.cir.99.7.855. PMID 10027805. 9. ^ Familial Mediterranean Fever. Springer. 2015-03-19. ISBN 978-3319146157. 10. ^ Diego Real de Asúa; Ramón Costa; Jose María Galván; María Teresa Filigheddu; Davinia Trujillo; Julen Cadiñanos (2014). "Systemic AA amyloidosis: epidemiology, diagnosis, and management". Clinical Epidemiology. 6: 369–77. doi:10.2147/CLEP.S39981. PMC 4218891. PMID 25378951. 11. ^ a b "AA (Inflammatory) Amyloidosis". Medscape Reference. 2019-02-02. 12. ^ "AA Amyloidosis". BU Amyloid Treatment & Research Program. 13. ^ Daisuke Katagiri; Eisei Noiri; Fumihiko Hinoshita (2013). "Multiple Myeloma and Kidney Disease". The Scientific World Journal. 2013: 1–9. doi:10.1155/2013/487285. PMC 3826468. PMID 24288486. 14. ^ Fernández-Nebro A (2005). "Treatment of rheumatic inflammatory disease in 25 patients with secondary amyloidosis using tumor necrosis factor alpha antagonists". Am J Med. 118 (5): 552–6. doi:10.1016/j.amjmed.2005.01.028. PMID 15866260. Retrieved 12 June 2015. 15. ^ a b Murakami, T; Ishiguro N; Higuchi K (March 2014). "Transmission of Systemic AA Amyloidosis in Animals". Veterinary Pathology. 51 (2): 363–371. doi:10.1177/0300985813511128. PMID 24280941. ## External links[edit] Classification D * ICD-10: E85 * ICD-9-CM: 277.3 * DiseasesDB: 16 External resources * eMedicine: med/3388 * UK NHS National Amyloidosis Centre Patient Information Site: information on AA amyloidosis * v * t * e Amyloidosis Common amyloid forming proteins * AA * ATTR * Aβ2M * AL * Aβ/APP * AIAPP * ACal * APro * AANF * ACys * ABri Systemic amyloidosis * AL amyloidosis * AA amyloidosis * Aβ2M/Haemodialysis-associated * AGel/Finnish type * AA/Familial Mediterranean fever * ATTR/Transthyretin-related hereditary Organ-limited amyloidosis Heart AANF/Isolated atrial Brain * Familial amyloid neuropathy * ACys+ABri/Cerebral amyloid angiopathy * Aβ/Alzheimer's disease Kidney * AApoA1+AFib+ALys/Familial renal Skin * Primary cutaneous amyloidosis * Amyloid purpura Endocrine Thyroid ACal/Medullary thyroid cancer Pituitary APro/Prolactinoma Pancreas AIAPP/Insulinoma AIAPP/Diabetes mellitus type 2 (www.AmyloidAware.com ) Booklet and explanatory video explaining the difference between the types of amyloidosis. Written by doctors at Mayo Clinic, Boston University, Indiana University and others [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	AA amyloidosis	c0221014	29,365	wikipedia	https://en.wikipedia.org/wiki/AA_amyloidosis	2021-01-18T18:31:39	{"gard": ["10560"], "umls": ["C0221014"], "icd-9": ["277.3"], "icd-10": ["E85"], "orphanet": ["85445"], "wikidata": ["Q2844591"]}
Larsen syndrome is a disorder of the development of the bones. Signs and symptoms may include clubfoot and numerous joint dislocations at birth (affecting the hips, knees and elbows); flexible joints; and a distinctive appearance of the face, hands, feet, and fingers, with square-shape finger tips. The X-rays usually show small extra bones in their wrists and ankles. Other features may include short stature, hypermobility, cleft palate, hearing loss, and an abnormal curvature of the spine that may result in weakness of the arms and/or legs and other complications. Larsen syndrome is inherited in an autosomal dominant manner and is caused by mutations in the FLNB gene. Treatment depend on the problems that are present, and may include surgeries for hip dislocation, and/or to stabilize the spine, and/or to correct a cleft palate. Physiotherapy is indicated in most cases. There are several bone disorders that are caused by mutations in the FLNB gene. Some are considered mild (spondylocarpotarsal synostosis (SCT) syndrome and Larsen syndrome) and other are more severe (atelosteogenesis types I (AOI) and III (AOIII) and boomerang dysplasia). [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	Larsen syndrome	c0175778	29,366	gard	https://rarediseases.info.nih.gov/diseases/6860/larsen-syndrome	2021-01-18T17:59:31	{"mesh": ["C580241"], "omim": ["150250"], "umls": ["C0175778"], "orphanet": ["503"], "synonyms": ["LRS", "Autosomal dominant Larsen syndrome"]}
This article is about the disorder. For other uses, see Triggerfinger (disambiguation). Not to be confused with De Quervain syndrome. Trigger finger Other namesHistoricopous, trigger digit, trigger thumb,[1] stenosing tenosynovitis[1] Play media An example of trigger finger affecting the ring finger SpecialtyPlastic surgery SymptomsCatching or locking of the involved finger, pain[2][3] Usual onset50s to 60s years old[2] Risk factorsRepeated injury, diabetes, kidney disease, thyroid disease, inflammatory disease[3] Diagnostic methodBased on symptoms[2] Differential diagnosisFracture, tumor, injury[2] TreatmentRest, splinting the finger, NSAIDs, steroid injections, surgery[3] FrequencyRelatively common[2] Trigger finger, also known as stenosing tenosynovitis, is a disorder characterized by catching or locking of the involved finger.[2] Pain may occur in the palm of the hand or knuckles.[3] The name is due to the popping sound made by the affected finger when moved.[2] Most commonly the ring finger or thumb is affected.[1] Risk factors include repeated injury, diabetes, kidney disease, thyroid disease, and inflammatory disease.[3] The underlying mechanism involves the tendon sheath being too narrow for the flexor tendon.[3] This typically occurs at the level of the A1 pulley.[2] While often referred to as a type of stenosing tenosynovitis, little inflammation appears to be present.[3] Diagnosis is typically based on symptoms after excluding other possible causes.[2] Initial treatment is generally with rest, splinting the finger, NSAIDs, or steroid injections.[3] If this is not effective surgery may be used.[3] Trigger finger is relatively common.[2] Females are affected more often than males.[3] Those in their 50s and 60s are most commonly affected.[2] The condition was formally described in 1850.[2] ## Contents * 1 Signs and symptoms * 2 Causes * 3 Diagnosis * 4 Treatment * 4.1 Surgery * 5 Prognosis * 6 References * 7 External links ## Signs and symptoms[edit] Symptoms include catching or locking of the involved finger.[2] As the disease progresses pain may occur in the palm of the hand or knuckles.[3] In the ring and middle fingers, often a nodule can be felt at the area of the hand where the palm meets the finger.[4] ## Causes[edit] The cause of trigger finger is unclear but several causes have been proposed.[2] It has also been called stenosing tenosynovitis (specifically digital tenosynovitis stenosans), but this may be a misnomer, as inflammation is not a predominant feature. It has been speculated that repetitive forceful use of a digit leads to narrowing of the fibrous digital sheath in which it runs, but there is little scientific data to support this theory. The relationship of trigger finger to work activities is debatable and scientific evidence for[5] and against[6] hand use as a cause exist. While the mechanism is unclear, there is some evidence that triggering of the thumb is more likely to occur following surgery for carpal tunnel syndrome.[7] It may also occur in rheumatoid arthritis. ## Diagnosis[edit] Diagnosis is made almost exclusively by history and physical examination alone. More than one finger may be affected at a time, though it usually affects the index, thumb, middle, or ring finger. The triggering is usually more pronounced late at night and into the morning, or while gripping an object firmly. ## Treatment[edit] Post operative photo of trigger finger release surgery in a diabetic patient. See:[8] Splinting, non-steroidal anti inflammatory drugs (NSAIDs), and corticosteroid injections are regarded as conservative first-line treatments for stenosing tenosynovitis.[4] However, NSAIDs have been found to be ineffective by themselves. Early treatment of trigger thumb has been associated with better treatment outcomes.[4] Surgical treatment of trigger thumb can be complicated by injury to the digital nerves, scarring, tenderness, or a contracture of the joint. A higher rate of symptom improvement has been observed when surgical management is paired with corticosteroid injections when compared to corticosteroid injections alone.[4] Treatment consists of injection of a corticosteroid such as methylprednisolone often combined with a local anesthetic (lidocaine) at the site of maximal inflammation or tenderness around the A1 pulley of the finger in the palm. The infiltration of the affected site can be performed using standard anatomic landmarks or sonographically guided, and often needs to be repeated 2 or three times to achieve remission. An irreducibly locked trigger, often associated with a flexion contracture of the PIP joint, should not be treated by injections.[9] Injection of the tendon sheath with a corticosteroid is effective over weeks to months in more than half of people.[10] When corticosteroid injection fails, the problem is predictably resolved by a relatively simple surgical procedure (usually outpatient, under local anesthesia). The surgeon will cut the sheath that is restricting the tendon. One study suggests that the most cost-effective treatment is two trials of corticosteroid injection, followed by open release of the first annular pulley.[11] Choosing surgery immediately is the most expensive option and is often not necessary for resolution of symptoms.[11] A 2009 Cochrane review of corticosteroid injection for trigger finger found only two pseudo-randomized controlled trials for a total pooled success rate of only 37%.[12] ### Surgery[edit] Play media Procedure of thread trigger finger release For symptoms that have persisted or recurred for more than 6 months and/or have been unresponsive to conservative treatment, surgical release of the pulley may be indicated.[citation needed] The main surgical approaches are percutaneous release and open release. The percutaneous approach, is preferred in some centers due to its reported shorter time of recuperation of motor function, less complications, and less painful.[13] Complication of the surgical management include, persistent trigger finger, bowstringing, digital nerve injury, and continued triggering.[14] Surgery instead of steroid injections may result in a lower recurrence rates, however the quality of the evidence is poor.[15] For an open technique, the A1 pulley is identified along the distal palmar crease and a longitudinal incision is performed. The A1 tendon is released longitudinally and confirmation of release is done by asking the patient to flex their fingers. The wound is washed out and then closed. [16] Thread trigger finger release is an ultrasound guided minimally invasive procedure using a piece of dissecting thread to transect A1 pulley without incision. There is a theoretical greater risk of nerve damage associated with the percutaneous needle release as the technique is performed without seeing the A1 pulley.[17] ## Prognosis[edit] The natural history of disease for trigger finger remains uncertain. There is some evidence that idiopathic trigger finger behaves differently in people with diabetes.[10] Recurrent triggering is unusual after successful injection and rare after successful surgery. While difficulty extending the proximal interphalangeal joint may persist for months, it benefits from exercises to stretch the finger straighter. ## References[edit] 1. ^ a b c "Trigger Finger - Trigger Thumb". OrthoInfo - AAOS. March 2018. Retrieved 25 June 2018. 2. ^ a b c d e f g h i j k l m n Makkouk AH, Oetgen ME, Swigart CR, Dodds SD (June 2008). "Trigger finger: etiology, evaluation, and treatment". Curr Rev Musculoskelet Med. 1 (2): 92–6. doi:10.1007/s12178-007-9012-1. PMC 2684207. PMID 19468879. 3. ^ a b c d e f g h i j k Hubbard, MJ; Hildebrand, BA; Battafarano, MM; Battafarano, DF (June 2018). "Common Soft Tissue Musculoskeletal Pain Disorders". Primary Care. 45 (2): 289–303. doi:10.1016/j.pop.2018.02.006. PMID 29759125. 4. ^ a b c d Crop JA, Bunt CW (June 2011). "Doctor, my thumb hurts". J Fam Pract. 60 (6): 329–32. PMID 21647468. 5. ^ Gorsche R, Wiley JP, Renger R, Brant R, Gemer TY, Sasyniuk TM (June 1998). "Prevalence and incidence of stenosing flexor tenosynovitis (trigger finger) in a meat-packing plant". J Occup Environ Med. 40 (6): 556–60. doi:10.1097/00043764-199806000-00008. PMID 9636936. 6. ^ Kasdan ML, Leis VM, Lewis K, Kasdan AS (November 1996). "Trigger finger: not always work related". J Ky Med Assoc. 94 (11): 498–9. PMID 8973080. 7. ^ King, Bradley A.; Stern, Peter J.; Kiefhaber, Thomas R. (2013). "The incidence of trigger finger or de Quervain's tendinitis after carpal tunnel release". Journal of Hand Surgery (European Volume). 38 (1): 82–3. doi:10.1177/1753193412453424. PMID 22791612. S2CID 30644466. 8. ^ Eisen, Jonathan. "Trigger finger surgery. Fun". Retrieved 17 May 2013. 9. ^ Wheeless, III, Clifford R. "Trigger Finger / Tenosynovitis". Duke Orthopaedics. 10. ^ a b Baumgarten KM, Gerlach D, Boyer MI (December 2007). "Corticosteroid injection in diabetic patients with trigger finger. A prospective, randomized, controlled double-blinded study". Journal of Bone and Joint Surgery. American Volume. 89 (12): 2604–2611. doi:10.2106/JBJS.G.00230. PMID 18056491. 11. ^ a b Kerrigan CL, Stanwix MG (Jul–Aug 2009). "Using evidence to minimize the cost of trigger finger care". J Hand Surg Am. 34 (6): 997–1005. doi:10.1016/j.jhsa.2009.02.029. PMID 19643287. 12. ^ Peters-Veluthamaningal, C; van der Windt, D A; Winters, J C; Meyboom-de Jong, B (Jan 21, 2009). "Corticosteroid injection for trigger finger in adults" (PDF). The Cochrane Database of Systematic Reviews (1): CD005617. doi:10.1002/14651858.CD005617.pub2. PMID 19160256. 13. ^ Pavlicný, R (Feb 2010). "Percutaneous release in the treatment of trigger digits". Acta Chir Orthop Traumatol Cech. 77 (1): 46–51. PMID 20214861. 14. ^ Ryzewicz M, Wolf JM (Jan 2006). "Trigger digits: principles, management, and complications". J Hand Surg Am. 31 (1): 135–46. doi:10.1016/j.jhsa.2005.10.013. PMID 16443118. 15. ^ Fiorini, Haroldo Junior; Tamaoki, Marcel Jun; Lenza, Mário; Gomes dos Santos, Joao Baptista; Faloppa, Flávio; Belloti, Joao carlos (2018-02-20). "Surgery for trigger finger". Cochrane Database of Systematic Reviews. 2018 (2): CD009860. doi:10.1002/14651858.cd009860.pub2. ISSN 1465-1858. PMC 6491286. PMID 29460276. 16. ^ [1], Ilyas A, Xu V. Trigger Finger Release. J Med Ins. 2017;2017(206.2) doi:https://jomi.com/article/206.2 17. ^ Bain, GI; Turnbull, J; Charles, MN; Roth, JH; Richards, RS (Sep 1995). "Percutaneous A1 pulley release: a cadaveric study". The Journal of Hand Surgery. 20 (5): 781–4, discussion 785–6. doi:10.1016/S0363-5023(05)80430-7. PMID 8522744. ## External links[edit] Classification D * ICD-10: M65.3 * ICD-9-CM: 727.03 * MeSH: D052582 External resources * MedlinePlus: 003248 * eMedicine: orthoped/570 Look up trigger finger in Wiktionary, the free dictionary. * Video of Trigger Finger Release Surgery on YouTube * American Academy of Orthopaedic Surgeons information on trigger finger * Information from the Mayo Clinic * v * t * e Soft tissue disorders Capsular joint Synoviopathy * Synovitis/Tenosynovitis * Calcific tendinitis * Stenosing tenosynovitis * Trigger finger * De Quervain syndrome * Transient synovitis * Ganglion cyst * osteochondromatosis * Synovial osteochondromatosis * Plica syndrome * villonodular synovitis * Giant-cell tumor of the tendon sheath Bursopathy * Bursitis * Olecranon * Prepatellar * Trochanteric * Subacromial * Achilles * Retrocalcaneal * Ischial * Iliopsoas * Synovial cyst * Baker's cyst * Calcific bursitis Noncapsular joint Symptoms * Ligamentous laxity * Hypermobility Enthesopathy/Enthesitis/Tendinopathy upper limb * Adhesive capsulitis of shoulder * Impingement syndrome * Rotator cuff tear * Golfer's elbow * Tennis elbow lower limb * Iliotibial band syndrome * Patellar tendinitis * Achilles tendinitis * Calcaneal spur * Metatarsalgia * Bone spur other/general: * Tendinitis/Tendinosis Nonjoint Fasciopathy * Fasciitis: Plantar * Nodular * Necrotizing * Eosinophilic Fibromatosis/contracture * Dupuytren's contracture * Plantar fibromatosis * Aggressive fibromatosis * Knuckle pads [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	Trigger finger	c0410060	29,367	wikipedia	https://en.wikipedia.org/wiki/Trigger_finger	2021-01-18T18:46:14	{"gard": ["8484"], "mesh": ["D052582"], "umls": ["C0410060"], "icd-9": ["727.03"], "icd-10": ["M65.3"], "wikidata": ["Q2093127"]}
For a phenotypic description and a discussion of genetic heterogeneity of IgA nephropathy, see IGAN1 (161950). Mapping Paterson et al. (2007) clinically ascertained a large Canadian family of German-Austrian descent with IgA nephropathy. The family consisted of 14 affected individuals in 4 generations. Genotyping excluded the family from the locus on chromosome 6q22 (IGAN1) and the suggested loci on 4q26-q31 and 17q12-q22 (Bisceglia et al., 2006). Paterson et al. (2007) performed a genomewide linkage scan on this family and, by parametric analysis, identified significant linkage to chromosome 2q36 (maximum multipoint lod score 3.47). Nine simple sequence repeat markers were then genotyped in 21 members, including all affected individuals, which confirmed significant linkage to chromosome 2q36 over a region of 12.2 cM (maximum multipoint lod score 3.46). Recombination events in 2 affected individuals as detected by haplotype analysis delineated a critical interval of approximately 9 cM (equivalent to approximately 7 Mb) between D2S1323 and D2S362. The Ig nephropathy locus at 2q36 is designated IGAN2. INHERITANCE \- ?Autosomal dominant CARDIOVASCULAR Vascular \- Hypertension GENITOURINARY Kidneys \- Hematuria, macroscopic (seen in children and young adults coincident with mucosal infection) \- Proteinuria \- Galactose-deficient IgA1 deposits in the glomerular mesangium, with or without IgM and IgG \- Hematuria, microscopic \- Glomerular crescents (rare), seen on biopsy \- Glomerular capillary-loop deposits (rare), seen on biopsy \- IgA nephropathy \- Immune complex nephritis \- End stage renal disease (seen in 20-40% of patients by 20 years after biopsy) SKELETAL \- Arthralgia (in some patients) IMMUNOLOGY \- Serum circulating immune complexes contain galactose-deficient IgA1 LABORATORY ABNORMALITIES \- Hematuria, macroscopic and microscopic \- Proteinuria MISCELLANEOUS \- Histologic features overlap with Henoch-Schonlein purpura (HSPN) \- Incidence 5-50 per million (children) and 10-40 per million (adults) ▲ 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	IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2	c3151378	29,368	omim	https://www.omim.org/entry/613944	2019-09-22T15:57:00	{"omim": ["613944"]}
Stimulant psychosis Other namesStimulant-induced psychotic disorder[1] SpecialtyPsychiatry, addiction psychiatry Stimulant psychosis is a mental disorder characterized by psychotic symptoms (e.g., hallucinations, paranoid ideation, delusions, disorganized thinking, grossly disorganized behaviour) which involves and typically occurs following an overdose on psychostimulants;[1] however, it has also been reported to occur in approximately 0.1% of individuals, or 1 out of every 1,000 people, within the first several weeks after starting amphetamine or methylphenidate therapy.[2][3][4] Methamphetamine psychosis, or long-term effects of stimulant use in the brain (at the molecular level), depend upon genetics and may persist for some time.[5] The most common causative agents are substituted amphetamines, including substituted cathinones, as well as certain dopamine reuptake inhibitors such as cocaine and phenidates. ## Contents * 1 Signs and symptoms * 2 Cause * 2.1 Substituted amphetamines * 2.2 Cocaine * 2.3 Phenidates * 2.4 Caffeine * 3 Diagnosis * 3.1 Differential diagnosis * 4 Transition to schizophrenia * 5 Treatment * 6 See also * 7 References * 8 External links ## Signs and symptoms[edit] The symptoms of stimulant psychosis vary depending on the drug ingested, but generally involve the symptoms of organic psychosis such as hallucinations, delusions, paranoia, and thought disorder.[2][3][4] Other symptoms may include mania, erratic behavior, and aggression. ## Cause[edit] ### Substituted amphetamines[edit] Drugs in the class of amphetamines, or substituted amphetamines, are known to induce "amphetamine psychosis" typically when chronically abused or used in high doses.[6] In an Australian study of 309 active methamphetamine users, 18% had experienced a clinical level psychosis in the past year.[7] Common amphetamines include methamphetamine, ephedrine, MDMA, as well as substituted cathinones like methcathinone, MDPV, and mephedrone, though a large number of other related compounds have been recently synthesized. Methylphenidate is sometimes incorrectly included in this class, although it is nonetheless still capable of producing stimulant psychosis. The symptoms of amphetamine psychosis include auditory and visual hallucinations, grandiosity, delusions of persecution, and delusions of reference concurrent with both clear consciousness and prominent extreme agitation.[8][9] A Japanese study of recovery from methamphetamine psychosis reported a 64% recovery rate within 10 days rising to an 82% recovery rate at 30 days after methamphetamine cessation.[10] However it has been suggested that around 5–15% of users fail to make a complete recovery in the long term.[11] Furthermore, even at a small dose, the psychosis can be quickly reestablished.[10] Psychosocial stress has been found to be an independent risk factor for psychosis relapse even without further substituted amphetamine use in certain cases.[12] The symptoms of acute amphetamine psychosis are very similar to those of the acute phase of schizophrenia[6] although in amphetamine psychosis visual hallucinations are more common and thought disorder is rare.[13] Amphetamine psychosis may be purely related to high drug usage, or high drug usage may trigger an underlying vulnerability to schizophrenia.[6] There is some evidence that vulnerability to amphetamine psychosis and schizophrenia may be genetically related. Relatives of methamphetamine users with a history of amphetamine psychosis are five times more likely to have been diagnosed with schizophrenia than relatives of methamphetamine users without a history of amphetamine psychosis.[14] The disorders are often distinguished by a rapid resolution of symptoms in amphetamine psychosis, while schizophrenia is more likely to follow a chronic course.[15] Although rare and not formally recognized,[16][17] a condition known as Amphetamine Withdrawal Psychosis (AWP) may occur upon cessation of substituted amphetamine use and, as the name implies, involves psychosis that appears on withdrawal from substituted amphetamines. However, unlike similar disorders, in AWP, substituted amphetamines reduce rather than increase symptoms, and the psychosis or mania resolves with resumption of the previous dosing schedule.[18] ### Cocaine[edit] Cocaine has a similar potential to induce temporary psychosis[19] with more than half of cocaine abusers reporting at least some psychotic symptoms at some point.[20] Typical symptoms of sufferers include paranoid delusions that they are being followed and that their drug use is being watched, accompanied by hallucinations that support the delusional beliefs.[20] Delusional parasitosis with formication ("cocaine bugs") is also a fairly common symptom.[21] Cocaine-induced psychosis shows sensitization toward the psychotic effects of the drug. This means that psychosis becomes more severe with repeated intermittent use.[20][22] ### Phenidates[edit] Methylphenidate and its analogues (e.g., ethylphenidate, 4F-MPH, and isopropylphenidate) share similar pharmacological profiles as norepinephrine-dopamine reuptake inhibitors.[23][24][25] Chronic abuse of methylphenidate has potential to lead to psychosis.[26][27] Similar psychiatric side effects have been reported in a study of ethylphenidate.[28] No studies regarding psychosis and 4F-MPH or isopropylphenidate have been conducted but given their high DAT binding and cellular uptake activity,[29][30] the possibility of stimulant psychosis exists. ### Caffeine[edit] There is limited evidence that caffeine, in high doses or when chronically abused, may induce psychosis in normal individuals and worsen pre-existing psychosis in those diagnosed with schizophrenia.[31][32][33] ## Diagnosis[edit] ### Differential diagnosis[edit] Though less common than stimulant psychosis, stimulants such as cocaine and amphetamines as well as the dissociative drug phencyclidine (PCP, angel dust) may also cause a theorized severe and life-threatening condition known as excited delirium. This condition manifests as a combination of delirium, psychomotor agitation, anxiety, delusions, hallucinations, speech disturbances, disorientation, violent and bizarre behavior, insensitivity to pain, elevated body temperature, and hysterical strength.[34] Despite some superficial similarities in presentation excited delirium is a distinct (and more serious) condition than stimulant psychosis. The existence of excited delirium is currently debated. ## Transition to schizophrenia[edit] A 2019 systematic review and meta-analysis by Murrie et al found that the pooled proportion of transition from amphetamine-induced psychosis to schizophrenia was 22% (5 studies, CI 14%–34%). This was lower than cannabis (34%) and hallucinogens (26%), but higher than opioid (12%), alcohol (10%) and sedative (9%) induced psychoses. Transition rates were slightly lower in older cohorts but were not affected by sex, country of the study, hospital or community location, urban or rural setting, diagnostic methods, or duration of follow-up.[35] ## Treatment[edit] Treatment consists of supportive care during the acute intoxication phase: maintaining hydration, body temperature, blood pressure, and heart rate at acceptable levels until the drug is sufficiently metabolized to allow vital signs to return to baseline. Typical and atypical antipsychotics have been shown to be helpful in the early stages of treatment.[6] In the instance of persistent psychosis after repeated use of stimulants, there are cases in which electroconvulsive therapy has been beneficial.[36] This is followed by abstinence from psychostimulants supported with counseling or medication designed to assist the individual preventing a relapse and the resumption of a psychotic state. ## See also[edit] * Amphetamine * Delusional parasitosis * Dopamine hypothesis of psychosis * Excited delirium * Psychosis * Substance-induced psychosis * Neuroleptic malignant syndrome ## References[edit] 1. ^ a b World Health Organization (2018). "ICD-11 for Mortality and Morbidity Statistics: 6C46.6 Stimulant-induced psychotic disorder including amphetamines, methamphetamine or methcathinone". Retrieved 7 April 2019. 2. ^ a b "Adderall XR Prescribing Information" (PDF). United States Food and Drug Administration. Shire US Inc. December 2013. Retrieved 30 December 2013. "Treatment-emergent psychotic or manic symptoms, e.g., hallucinations, delusional thinking, or mania in children and adolescents without prior history of psychotic illness or mania can be caused by stimulants at usual doses. ... In a pooled analysis of multiple short-term, placebo controlled studies, such symptoms occurred in about 0.1% (4 patients with events out of 3482 exposed to methylphenidate or amphetamine for several weeks at usual doses) of stimulant-treated patients compared to 0 in placebo-treated patients." 3. ^ a b Shoptaw, Steven J; Kao, Uyen; Ling, Walter (21 January 2009). "Treatment for amphetamine psychosis". Cochrane Database of Systematic Reviews (1): CD003026. doi:10.1002/14651858.CD003026.pub3. PMC 7004251. PMID 19160215. 4. ^ a b Mosholder AD, Gelperin K, Hammad TA, Phelan K, Johann-Liang R (February 2009). "Hallucinations and other psychotic symptoms associated with the use of attention-deficit/hyperactivity disorder drugs in children". Pediatrics. 123 (2): 611–616. doi:10.1542/peds.2008-0185. PMID 19171629. 5. ^ Greening, David W.; Notaras, Michael; Chen, Maoshan; Xu, Rong; Smith, Joel D.; Cheng, Lesley; Simpson, Richard J.; Hill, Andrew F.; van den Buuse, Maarten (10 December 2019). "Chronic methamphetamine interacts with BDNF Val66Met to remodel psychosis pathways in the mesocorticolimbic proteome". Molecular Psychiatry. doi:10.1038/s41380-019-0617-8. PMID 31822818. 6. ^ a b c d Shoptaw SJ, Kao U, Ling W (2009). "Treatment for amphetamine psychosis (Review)". Cochrane Database of Systematic Reviews. 2009 (1): 1. doi:10.1002/14651858.cd003026.pub3. PMC 7004251. PMID 19160215. 7. ^ McKetin R, McLaren J, Lubman DI, Hides L. The prevalence of psychotic symptoms among methamphetamine users. Addiction 2006;101(10):1473–8. 8. ^ Dore G, Sweeting M (2006). "Drug-induced psychosis associated with crystalline methamphetamine". Australasian Psychiatry. 14 (1): 86–9. doi:10.1080/j.1440-1665.2006.02252.x. PMID 16630206. 9. ^ Srisurapanont M, Ali R, Marsden J, Sunga A, Wada K, Monteiro M (2003). "Psychotic symptoms in methamphetamine psychotic in-patients". International Journal of Neuropsychopharmacology. 6 (4): 347–52. doi:10.1017/s1461145703003675. PMID 14604449. 10. ^ a b Sato M, Numachi Y, Hamamura T (1992). "Relapse of paranoid psychotic state in methamphetamine model of schizophrenia". Schizophrenia Bulletin. 18 (1): 115–22. doi:10.1093/schbul/18.1.115. PMID 1553491. 11. ^ Hofmann FG (1983). A Handbook on Drug and Alcohol Abuse: The Biomedical Aspects (2nd ed.). New York: Oxford University Press. p. 329. 12. ^ Yui K, Ikemoto S, Goto K (2002). "Factors for susceptibility to episode recurrence in spontaneous recurrence of methamphetamine psychosis". Annals of the New York Academy of Sciences. 965 (1): 292–304. Bibcode:2002NYASA.965..292Y. doi:10.1111/j.1749-6632.2002.tb04171.x. PMID 12105105. 13. ^ Alan F. Schatzberg; Charles B. Nemeroff (2009). The American Psychiatric Publishing Textbook of Psychopharmacology. The American Psychiatric Publishing. pp. 847–48. ISBN 978-1-58562-309-9. 14. ^ Chen CK, Lin SK, Pak CS, Ball D, Loh EW, Murray RM (2005). "Morbid risk for psychiatric disorder among the relatives of methamphetamine users with and without psychosis". American Journal of Medical Genetics Part B. 136 (1): 87–91. doi:10.1002/ajmg.b.30187. PMID 15892150. 15. ^ McIver C, McGregor C, Baigent M, Spain D, Newcombe D, Ali R. Guidelines for the medical management of patients with methamphetamine-induced psychosis. Drug and Alcohol Services: South Australia 2006. 16. ^ Sarampote CS, Efron LA, Robb AS, Pearl PL, Stein MA (2002). "Can stimulant rebound mimic pediatric bipolar disorder?". J Child Adolesc Psychopharmacol. 12 (1): 63–7. doi:10.1089/10445460252943588. PMID 12014597. 17. ^ American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, Text Revision, DSM-IV-TR. Washington, DC: American Psychiatric Association; 2000. 18. ^ Hegerl U, Sander C, Olbrich S, Schoenknecht P (August 2006). "Are psychostimulants a treatment option in mania?". Prog Neuropsychopharmacol Biol Psychiatry. 30 (6): 1097–102. doi:10.1016/j.pnpbp.2006.04.016. PMID 16740350. 19. ^ Brady KT, Lydiard RB, Malcolm R, Ballenger JC (1991). "Cocaine-induced psychosis". J Clin Psychiatry. 52 (12): 509–512. PMID 1752853. 20. ^ a b c Thirthalli J.; Vivek B. (2006). "Psychosis Among Substance Users". Curr Opin Psychiatry. 19 (3): 239–245. doi:10.1097/01.yco.0000218593.08313.fd. PMID 16612208. 21. ^ Elliott A.; Mahmood T.; Smalligan R. D. (2012). "Cocaine Bugs: A Case Report of Cocaine-Induced Delusions of Parasitosis". The American Journal on Addictions. 21 (2): 180–181. doi:10.1111/j.1521-0391.2011.00208.x. PMID 22332864. 22. ^ DiSCLAFANI; et al. (1981). "Drug-induced psychosis: Emergency diagnosis and management". Psychosomatics. 22 (10): 845–855. doi:10.1016/s0033-3182(81)73092-5. PMID 7313045. 23. ^ Robins, Meridith T.; Blaine, Arryn T.; Ha, Jiwon E.; Brewster, Amy L.; Van Rijn, Richard M. (2019). "Repeated Use of the Psychoactive Substance Ethylphenidate Impacts Neurochemistry and Reward Learning in Adolescent Male and Female Mice". Frontiers in Neuroscience. 13: 124. doi:10.3389/fnins.2019.00124. PMC 6389692. PMID 30837836. 24. ^ McLaughlin, G.; Morris, N.; Kavanagh, P. V.; Power, J. D.; Dowling, G.; Twamley, B.; O'Brien, J.; Hessman, G.; Murphy, B.; Walther, D.; Partilla, J. S.; Baumann, M. H.; Brandt, S. D. (2017). "Analytical characterization and pharmacological evaluation of the new psychoactive substance 4-fluoromethylphenidate (4F-MPH) and differentiation between the (±)-threo- and (±)-erythro- diastereomers". Drug Testing and Analysis. 9 (3): 347–357. doi:10.1002/dta.2167. PMC 5378611. PMID 28103426. 25. ^ Markowitz, J. S.; Zhu, H. J.; Patrick, K. S. (2013). "Isopropylphenidate: An ester homolog of methylphenidate with sustained and selective dopaminergic activity and reduced drug interaction liability". Journal of Child and Adolescent Psychopharmacology. 23 (10): 648–54. doi:10.1089/cap.2013.0074. hdl:2027.42/140321. PMID 24261661. 26. ^ Morton WA, Stockton GG (2000). "Methylphenidate abuse and psychiatric side effects". Prim Care Companion J Clin Psychiatry. 2 (5): 159–64. doi:10.4088/pcc.v02n0502. PMC 181133. PMID 15014637. 27. ^ Spensley J, Rockwell D (April 1972). "Psychosis during methylphenidate Abuse". New England Journal of Medicine. 286 (16): 880–1. doi:10.1056/NEJM197204202861607. PMID 5061074. 28. ^ Robertson, Roy (2017). "Prolonged mental health effects of ethylphenidate beyond cessation of use". Addiction. 112 (1): 183–184. doi:10.1111/add.13630. PMID 27936504. 29. ^ McLaughlin, Gavin; Morris, Noreen; Kavanagh, Pierce V.; Power, John D.; Dowling, Geraldine; Twamley, Brendan; O'Brien, John; Hessman, Gary; Murphy, Brian; Walther, Donna; Partilla, John S.; Baumann, Michael H.; Brandt, Simon D. (March 2017). "Analytical characterization and pharmacological evaluation of the new psychoactive substance 4‐fluoromethylphenidate (4F‐MPH) and differentiation between the (±)‐threo and (±)‐erythro diastereomers". Drug Testing and Analysis. 9 (3): 347–357. doi:10.1002/dta.2167. PMC 5378611. PMID 28103426. 30. ^ Markowitz, John S.; Zhu, Hao-Jie; Patrick, Kennerly S. (December 2013). "Isopropylphenidate: An Ester Homolog of Methylphenidate with Sustained and Selective Dopaminergic Activity and Reduced Drug Interaction Liability". Journal of Child and Adolescent Psychopharmacology. 23 (10): 648–654. doi:10.1089/cap.2013.0074. hdl:2027.42/140321. PMID 24261661. 31. ^ Hedges, D. W.; F. L. Woon; S. P. Hoopes (September 2009). "Caffeine-induced psychosis". CNS Spectrums. 14 (3): 127–9. doi:10.1017/S1092852900020101. PMID 19407709. 32. ^ Cerimele, Joseph M.; Stern, Adam P.; Jutras-Aswad, Didier (March 2010). "Psychosis Following Excessive Ingestion of Energy Drinks in a Patient With Schizophrenia". American Journal of Psychiatry. 167 (3): 353. doi:10.1176/appi.ajp.2009.09101456. PMID 20194494. 33. ^ Broderick, P.; Benjamin, A. B. (2004). "Caffeine and psychiatric symptoms: A review". The Journal of the Oklahoma State Medical Association. 97 (12): 538–542. PMID 15732884. 34. ^ "White Paper Report on Excited Delirium Syndrome", ACEP Excited Delirium Task Force, American College of Emergency Physicians, 10 September 2009 35. ^ Murrie, Benjamin; Lappin, Julia; Large, Matthew; Sara, Grant (16 October 2019). "Transition of Substance-Induced, Brief, and Atypical Psychoses to Schizophrenia: A Systematic Review and Meta-analysis". Schizophrenia Bulletin. doi:10.1093/schbul/sbz102. PMID 31618428. 36. ^ Penders, T. M.; Lang, M. C.; Pagano, J. J.; Gooding, Z. S. (2013). "Electroconvulsive therapy improves persistent psychosis after repeated use of methylenedioxypyrovalerone ("bath salts")". The Journal of Ect. 29 (4): e59-60. doi:10.1097/YCT.0b013e3182887bc2. PMID 23609518. ## External links[edit] Classification D * ICD-10: F14.5 & F15.5 * ICD-9-CM: 292.1 * v * t * e Psychoactive substance-related disorder General * SID * Substance intoxication / Drug overdose * Substance-induced psychosis * Withdrawal: * Craving * Neonatal withdrawal * Post-acute-withdrawal syndrome (PAWS) * SUD * Substance abuse / Substance-related disorders * Physical dependence / Psychological dependence / Substance dependence Combined substance use * SUD * Polysubstance dependence * SID * Combined drug intoxication (CDI) Alcohol SID Cardiovascular diseases * Alcoholic cardiomyopathy * Alcohol flush reaction (AFR) Gastrointestinal diseases * Alcoholic liver disease (ALD): * Alcoholic hepatitis * Auto-brewery syndrome (ABS) Endocrine diseases * Alcoholic ketoacidosis (AKA) Nervous system diseases * Alcohol-related dementia (ARD) * Alcohol intoxication * Hangover Neurological disorders * Alcoholic hallucinosis * Alcoholic polyneuropathy * Alcohol-related brain damage * Alcohol withdrawal syndrome (AWS): * Alcoholic hallucinosis * Delirium tremens (DTs) * Fetal alcohol spectrum disorder (FASD) * Fetal alcohol syndrome (FAS) * Korsakoff syndrome * Positional alcohol nystagmus (PAN) * Wernicke–Korsakoff syndrome (WKS, Korsakoff psychosis) * Wernicke encephalopathy (WE) Respiratory tract diseases * Alcohol-induced respiratory reactions * Alcoholic lung disease SUD * Alcoholism (alcohol use disorder (AUD)) * Binge drinking Caffeine * SID * Caffeine-induced anxiety disorder * Caffeine-induced sleep disorder * Caffeinism * SUD * Caffeine dependence Cannabis * SID * Cannabis arteritis * Cannabinoid hyperemesis syndrome (CHS) * SUD * Amotivational syndrome * Cannabis use disorder (CUD) * Synthetic cannabinoid use disorder Cocaine * SID * Cocaine intoxication * Prenatal cocaine exposure (PCE) * SUD * Cocaine dependence Hallucinogen * SID * Acute intoxication from hallucinogens (bad trip) * Hallucinogen persisting perception disorder (HPPD) Nicotine * SID * Nicotine poisoning * Nicotine withdrawal * SUD * Nicotine dependence Opioids * SID * Opioid overdose * SUD * Opioid use disorder (OUD) Sedative / hypnotic * SID * Kindling (sedative–hypnotic withdrawal) * benzodiazepine: SID * Benzodiazepine overdose * Benzodiazepine withdrawal * SUD * Benzodiazepine use disorder (BUD) * Benzodiazepine dependence * barbiturate: SID * Barbiturate overdose * SUD * Barbiturate dependence Stimulants * SID * Stimulant psychosis * amphetamine: SUD * Amphetamine dependence Volatile solvent * SID * Sudden sniffing death syndrome (SSDS) * Toluene toxicity * SUD * Inhalant abuse [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	Stimulant psychosis	None	29,369	wikipedia	https://en.wikipedia.org/wiki/Stimulant_psychosis	2021-01-18T18:31:57	{"icd-9": ["292.1"], "icd-10": ["F14.5", "F15.5"], "wikidata": ["Q629515"]}
A rare osteonecrosis characterized by an exposed necrotic lesion in the mandible or maxilla present for more than eight weeks, arising as a complication of antiresorptive medication, dental interventions, or trauma and infections. Patients may present with pain, altered neurosensory functions, secondary infections, and (in advanced stages) pathological fractures, or fistulae. [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	Osteonecrosis of the jaw	c2711248	29,370	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=399293	2021-01-23T17:51:59	{"umls": ["C2711248"], "icd-10": ["K10.2"]}
Reticulohistiocytosis SpecialtyDermatology Reticulohistiocytosis is a cutaneous condition of which there are two distinct forms:[1]:718–9 * Reticulohistiocytoma * Multicentric reticulohistiocytosis ## See also[edit] * Non-X histiocytosis ## References[edit] 1. ^ James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6. * v * t * e Histiocytosis WHO-I/Langerhans cell histiocytosis/ X-type histiocytosis * Letterer–Siwe disease * Hand–Schüller–Christian disease * Eosinophilic granuloma * Congenital self-healing reticulohistiocytosis WHO-II/non-Langerhans cell histiocytosis/ Non-X histiocytosis * Juvenile xanthogranuloma * Hemophagocytic lymphohistiocytosis * Erdheim-Chester disease * Niemann–Pick disease * Sea-blue histiocyte * Benign cephalic histiocytosis * Generalized eruptive histiocytoma * Xanthoma disseminatum * Progressive nodular histiocytosis * Papular xanthoma * Hereditary progressive mucinous histiocytosis * Reticulohistiocytosis (Multicentric reticulohistiocytosis, Reticulohistiocytoma) * Indeterminate cell histiocytosis WHO-III/malignant histiocytosis * Histiocytic sarcoma * Langerhans cell sarcoma * Interdigitating dendritic cell sarcoma * Follicular dendritic cell sarcoma Ungrouped * Rosai–Dorfman disease 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	Reticulohistiocytosis	c0302323	29,371	wikipedia	https://en.wikipedia.org/wiki/Reticulohistiocytosis	2021-01-18T18:49:01	{"wikidata": ["Q7316736"]}
Abortion in Bahrain is legal upon request, upon authorization by a panel of physicians.[1] By the Penal Code of 1976, abortion is only illegal in Bahrain when it is self-induced which subjects the pregnant woman to up to six months in prison, or when it is performed without the woman's consent, which merits up to ten years' imprisonment.[1] The United Nations reported an abortion rate of 11.1 abortions per 1000 women aged 15–44 as of 2002[update].[2] ## References[edit] 1. ^ a b "Bahrain". Abortion Policies: A Global Review (DOC). United Nations Population Division. 2002. Retrieved 14 March 2017. 2. ^ "World Abortion Policies 2013". United Nations. 2013. Retrieved 14 March 2017. * v * t * e Abortion in Asia Sovereign states * Afghanistan * Armenia * Azerbaijan * Bahrain * Bangladesh * Bhutan * Brunei * Cambodia * China * Cyprus * East Timor (Timor-Leste) * Egypt * Georgia * India * Indonesia * Iran * Iraq * Israel * Japan * Jordan * Kazakhstan * North Korea * South Korea * Kuwait * Kyrgyzstan * Laos * Lebanon * Malaysia * Maldives * Mongolia * Myanmar * Nepal * Oman * Pakistan * Philippines * Qatar * Russia * Saudi Arabia * Singapore * Sri Lanka * Syria * Tajikistan * Thailand * Turkey * Turkmenistan * United Arab Emirates * Uzbekistan * Vietnam * Yemen States with limited recognition * Abkhazia * Artsakh * Northern Cyprus * Palestine * South Ossetia * Taiwan Dependencies and other territories * British Indian Ocean Territory * Christmas Island * Cocos (Keeling) Islands * Hong Kong * Macau * Book * Category * Asia portal * v * t * e Abortion Main topics * Definitions * History * Methods * Abortion debate * Philosophical aspects * Abortion law Movements * Abortion-rights movements * Anti-abortion movements Issues * Abortion and mental health * Beginning of human personhood * Beginning of pregnancy controversy * Abortion-breast cancer hypothesis * Anti-abortion violence * Abortion under communism * Birth control * Crisis pregnancy center * Ethical aspects of abortion * Eugenics * Fetal rights * Forced abortion * Genetics and abortion * Late-term abortion * Legalized abortion and crime effect * Libertarian perspectives on abortion * Limit of viability * Malthusianism * Men's rights * Minors and abortion * Natalism * One-child policy * Paternal rights and abortion * Prenatal development * Reproductive rights * Self-induced abortion * Sex-selective abortion * Sidewalk counseling * Societal attitudes towards abortion * Socialism * Toxic abortion * Unsafe abortion * Women's rights By country Africa * Algeria * Angola * Benin * Botswana * Burkina Faso * Burundi * Cameroon * Cape Verde * Central African Republic * Chad * Egypt * Ghana * Kenya * Namibia * Nigeria * South Africa * Uganda * Zimbabwe Asia * Afghanistan * Armenia * Azerbaijan * Bahrain * Bangladesh * Bhutan * Brunei * Cambodia * China * Cyprus * East Timor * Georgia * India * Iran * Israel * Japan * Kazakhstan * South Korea * Malaysia * Nepal * Northern Cyprus * Philippines * Qatar * Saudi Arabia * Singapore * Turkey * United Arab Emirates * Vietnam * Yemen Europe * Albania * Andorra * Austria * Belarus * Belgium * Bosnia and Herzegovina * Bulgaria * Croatia * Czech Republic * Denmark * Estonia * Finland * France * Germany * Greece * Hungary * Iceland * Ireland * Italy * Kazakhstan * Latvia * Liechtenstein * Lithuania * Luxembourg * Malta * Moldova * Monaco * Montenegro * Netherlands * North Macedonia * Norway * Poland * Portugal * Romania * Russia * San Marino * Serbia * Slovakia * Slovenia * Spain * Sweden * Switzerland * Ukraine * United Kingdom North America * Belize * Canada * Costa Rica * Cuba * Dominican Republic * El Salvador * Guatemala * Mexico * Nicaragua * Panama * Trinidad and Tobago * United States Oceania * Australia * Micronesia * Fiji * Kiribati * Marshall Islands * New Zealand * Papua New Guinea * Samoa * Solomon Islands * Tonga * Tuvalu * Vanuatu South America * Argentina * Bolivia * Brazil * Chile * Colombia * Ecuador * Guyana * Paraguay * Peru * Suriname * Uruguay * Venezuela Law * Case law * Constitutional law * History of abortion law * Laws by country * Buffer zones * Conscientious objection * Fetal protection * Heartbeat bills * Informed consent * Late-term restrictions * Parental involvement * Spousal consent Methods * Vacuum aspiration * Dilation and evacuation * Dilation and curettage * Intact D&X * Hysterotomy * Instillation * Menstrual extraction * Abortifacient drugs * Methotrexate * Mifepristone * Misoprostol * Oxytocin * Self-induced abortion * Unsafe abortion Religion * Buddhism * Christianity * Catholicism * Hinduism * Islam * Judaism * Scientology * Category This Bahrain-related article is a stub. You can help Wikipedia by expanding it. * v * t * e This abortion-related 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	Abortion in Bahrain	None	29,372	wikipedia	https://en.wikipedia.org/wiki/Abortion_in_Bahrain	2021-01-18T18:55:24	{"wikidata": ["Q18639388"]}
Enlarged parietal foramina is an inherited condition of impaired skull development. It is characterized by enlarged openings (foramina) in the parietal bones, which are the two bones that form the top and sides of the skull. This condition is due to incomplete bone formation (ossification) within the parietal bones. The openings are symmetrical and circular in shape, ranging in size from a few millimeters to several centimeters wide. Parietal foramina are a normal feature of fetal development, but typically they close before the baby is born, usually by the fifth month of pregnancy. However, in people with this condition, the parietal foramina remain open throughout life. The enlarged parietal foramina are soft to the touch due to the lack of bone at those areas of the skull. People with enlarged parietal foramina usually do not have any related health problems; however, scalp defects, seizures, and structural brain abnormalities have been noted in a small percentage of affected people. Pressure applied to the openings can lead to severe headaches, and individuals with this condition have an increased risk of brain damage or skull fractures if any trauma is experienced in the area of the openings. There are two forms of enlarged parietal foramina, called type 1 and type 2, which differ in their genetic cause. ## Frequency The prevalence of enlarged parietal foramina is estimated to be 1 in 15,000 to 50,000 individuals. ## Causes Mutations in the ALX4 gene account for 60 percent of cases of enlarged parietal foramina and mutations in the MSX2 gene account for 40 percent of cases. These genes provide instructions for producing proteins called transcription factors, which are required for proper development throughout the body. Transcription factors attach (bind) to specific regions of DNA and help control the activity of particular genes. The ALX4 and MSX2 transcription factor proteins are involved in regulating genes that are needed in various cell processes in early development. Mutations in either the ALX4 or MSX2 gene likely impair the ability of their respective transcription factors to bind to DNA. As a result, the regulation of multiple genes is altered, which disrupts a number of necessary cell functions. The processes that guide skull development seem to be particularly sensitive to changes in the activity of these transcription factors. If the condition is caused by a mutation in the MSX2 gene, it is called enlarged parietal foramina type 1. Mutations in the ALX4 gene cause enlarged parietal foramina type 2. There appears to be no difference in the size of the openings between enlarged parietal foramina types 1 and 2. ### Learn more about the genes associated with Enlarged parietal foramina * ALX4 * MSX2 ## 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. In most cases, an affected person has one parent with the condition. However, in rare cases, people who inherit an altered gene do not have enlarged parietal foramina. (This situation is known as reduced 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	Enlarged parietal foramina	c1868599	29,373	medlineplus	https://medlineplus.gov/genetics/condition/enlarged-parietal-foramina/	2021-01-27T08:25:51	{"mesh": ["C566827"], "omim": ["168500", "609597"], "synonyms": []}
A rare ophthalmic disorder characterized by an abnormally large optic disc (greater than 2.1 mm in diameter). The anomaly is usually bilateral with otherwise normal configuration of the disc, and typically associated with an increased cup-to-disc ratio, a round or horizontal oval optic cup, and an intact, pale-appearing neuroretinal rim. In a less frequent variant, a unilateral, anomalous superior excavation obliterates part of the adjacent neuroretinal rim. In general, visual acuity and visual fields are normal, except for an enlarged blind spot. Ciliary arteries are more common in megalopapilla. [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 megalopapilla	None	29,374	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519402	2021-01-23T17:21:29	{}
Antibody-dependent cellular cytotoxicity. Antibody-dependent cellular cytotoxicity (ADCC), also referred to as antibody-dependent cell-mediated cytotoxicity, is a mechanism of cell-mediated immune defense whereby an effector cell of the immune system actively lyses a target cell, whose membrane-surface antigens have been bound by specific antibodies.[1] It is one of the mechanisms through which antibodies, as part of the humoral immune response, can act to limit and contain infection.[2] ADCC is independent of the immune complement system that also lyses targets but does not require any other cell. ADCC requires an effector cell which classically is known to be natural killer (NK) cells that typically interact with immunoglobulin G (IgG) antibodies.[3] However, macrophages, neutrophils and eosinophils can also mediate ADCC, such as eosinophils killing certain parasitic worms known as helminths via IgE antibodies.[4] In general, ADCC has typically been described as the immune response to antibody-coated cells leading ultimately to the lysing of the infected or non-host cell. In recent literature, its importance in regards to treatment of cancerous cells and deeper insight into its deceptively complex pathways have been topics of increasing interest to medical researchers. ## Contents * 1 NK cells * 2 Eosinophils * 3 In vitro assays * 4 Medical applications * 5 See also * 6 References * 7 Further reading * 8 External links ## NK cells[edit] The typical ADCC involves activation of NK cells by antibodies in a multi-tiered progression of immune control.[5] A NK cell expresses Fcγ receptors. These receptors recognize and bind to the reciprocal portion of an antibody, such as IgG, which binds to the surface of a pathogen-infected target cell. The most common of these Fc receptors on the surface of an NK cell is CD16 or FcγRIII. Once the Fc receptor binds to the Fc region of the antibody, the NK cell releases cytotoxic factors that cause the death of the target cell. During replication of a virus, some of the viral proteins are expressed on the cell surface membrane of the infected cell. Antibodies can then bind to these viral proteins. Next, the NK cells which have reciprocal Fcγ receptors will bind to that antibody, inducing the NK cell to release proteins such as perforin and proteases known as granzymes, which causes the lysis of the infected cell to hinder the spread of the virus. ## Eosinophils[edit] Large parasites like helminths are too big to be engulfed and killed by phagocytosis. They also have an external structure or integument that is resistant to attack by substances released by neutrophils and macrophages. After IgE coat these parasites, the Fc receptor (FcɛRI) of an eosinophil will recognize IgE. Subsequently, interaction between FcεRI and the Fc portion of helminth-bound IgE signals the eosinophil to degranulate. ## In vitro assays[edit] Several laboratory methods exist for determining the efficacy of antibodies or effector cells in eliciting ADCC. Usually, a target cell line expressing a certain surface-exposed antigen is incubated with antibody specific for that antigen. After washing, effector cells expressing Fc receptor CD16 are co-incubated with the antibody-labelled target cells. Effector cells are typically PBMCs (peripheral blood mononuclear cell), of which a small percentage are NK cells (Natural Killer cell); less often they are purified NK cells themselves. Over the course of a few hours a complex forms between the antibody, target cell, and effector cell which leads to lysis of the cell membrane of the target. If the target cell was pre-loaded with a label of some sort, that label is released in proportion to the amount of cell lysis. Cytotoxicity can be quantified by measuring the amount of label in solution compared to the amount of label that remains within healthy, intact cells. The classical method of detecting this is the Chromium-51 [51Cr] release assay; the Sulfur-35 [35S] release assay is a little used radioisotope-based alternative. Target cell lysis is determined by measuring the amount of radiolabel released into the cell culture medium by means of a gamma counter or scintillation counter. A variety of non-radioactive methods are now in widespread use. Fluorescence-based methods include such things as direct labelling with a fluorescent dye like calcein or labelling with europium that becomes fluorescent when released Eu3+ binds to a chelator. Fluorescence can be measured by means of multi-well fluorometers or by flow cytometry methods. There are also enzymatic-based assays in which the contents of the lysed cells includes cellular enzymes like GAPDH that remain active; supplying a substrate for that enzyme can catalyze a reaction whose product can be detected by luminescence or by absorbance. ## Medical applications[edit] NK cells are involved in killing tumor cells and other cells that may lack MHC I on their surface, indicating a non-self cell. NK cells have been shown to behave similarly to memory cells due to their ability to react to destroy non-host cells only after interacting with a host cell. As NK cells are not themselves specific to certain pathways of immune control, they are utilized a majority of the time in ADCC as a less discriminate cell destroyer than antibody-specific apoptosis mechanisms. The ability of activated ex vivo NK cells has been a topic of interest for the treatment of tumors. After early clinical trials involving activation through cytokines produced poor results and severe toxicological side effects, more recent studies have produced success in regulating metastatic tumors using interleukin proteins to activate the NK cell.[6] The effects against solid tumors of trastuzumab and rituximab monoclonal antibodies have been shown in experiments with mice to involve ADCC as an important mechanism of therapeutic action.[7] In the clinic, the FcgRIII 158V/F polymorphism interfere with the ability to generate ADCC responses in vitro during trastuzumab treatment. Multiple myeloma can be treated with daratumumab (Darzalex) monoclonal antibody.[8] Studies with in vitro materials and patient materials indicate that ADCC is an important mechanism, along with CDC (Complement-dependent cytotoxicity).[9] ADCC as used in immune control is typically more useful for viral infections than bacterial infections due to IgG antibodies binding to virus-related antigens over prokaryotic cells.[10] Instead of ADCC removing outside toxins, immunoglobulins neutralize products of infecting bacteria and encase infected host cells that have had bacterial toxins directly inserted through the cell membrane. ADCC is also important in the use of vaccines, as creation of antibodies and the destruction of antigens introduced to the host body are crucial to building immunity through small exposure to viral and bacterial proteins. Examples of this include vaccines targeting repeats in toxins (RTX) that are structurally crucial to a wide variety of erythrocyte-lysing bacteria, described as hemolysins.[11] These bacteria target the CD18 portion of leukocytes, which has historically been shown to impact ADCC in adhesion-deficient cells.[12] ## See also[edit] * Afucosylated monoclonal antibodies * Complement-dependent cytotoxicity ## References[edit] 1. ^ Hashimoto, G.; Wright, P. F.; Karzon, D. T. (1983-11-01). "Antibody-dependent cell-mediated cytotoxicity against influenza virus-infected cells". The Journal of Infectious Diseases. 148 (5): 785–794. doi:10.1093/infdis/148.5.785. ISSN 0022-1899. PMID 6605395. 2. ^ Pollara, Justin; Hart, Lydia; Brewer, Faraha; Pickeral, Joy; Packard, Beverly Z.; Hoxie, James A.; Komoriya, Akira; Ochsenbauer, Christina; Kappes, John C. (2011-08-01). "High-throughput quantitative analysis of HIV-1 and SIV-specific ADCC-mediating antibody responses". Cytometry Part A. 79 (8): 603–612. doi:10.1002/cyto.a.21084. ISSN 1552-4930. PMC 3692008. PMID 21735545. 3. ^ Wang, W; Erbe, AK; Hank, JA; Morris, ZS; Sondel, PM (2015). "NK Cell-Mediated Antibody-Dependent Cellular Cytotoxicity in Cancer Immunotherapy". Front Immunol. 6: 368. doi:10.3389/fimmu.2015.00368. PMC 4515552. PMID 26284063. 4. ^ Capron, M; Kazatchkine, MD; Fischer, E; Joseph, M; Butterworth, AE; et al. (1987). "Functional role of the alpha-chain of complement receptor type 3 in human eosinophil-dependent antibody-mediated cytotoxicity against schistosomes". J Immunol. 139 (6): 2059–65. PMID 2957447. 5. ^ Lo Nigro, Cristiana; Macagno, Marco; Sangiolo, Dario; Bertolaccini, Luca; Aglietta, Massimo; Merlano, Marco Carlo (March 2019). "NK-mediated antibody-dependent cell-mediated cytotoxicity in solid tumors: biological evidence and clinical perspectives". Annals of Translational Medicine. 7 (5): 105. doi:10.21037/atm.2019.01.42. ISSN 2305-5839. PMC 6462666. PMID 31019955. 6. ^ Cheng, Min; Chen, Yongyan; Xiao, Weihua; Sun, Rui; Tian, Zhigang (May 2013). "NK cell-based immunotherapy for malignant diseases". Cellular & Molecular Immunology. 10 (3): 230–252. doi:10.1038/cmi.2013.10. ISSN 2042-0226. PMC 4076738. PMID 23604045. 7. ^ Clynes, RA; Towers, TL; Presta, LG; Ravetch, JV (2000). "Inhibitory Fc receptors modulate in vivo cytoxicity against tumor targets". Nat Med. 6 (4): 443–6. doi:10.1038/74704. PMID 10742152. 8. ^ Sanchez, L; Wang, Y; Siegel, DS (2016). "Daratumumab: a first-in-class CD38 monoclonal antibody for the treatment of multiple myeloma". J Hematol Oncol. 9 (1): 51. doi:10.1186/s13045-016-0283-0. PMC 4929758. PMID 27363983. 9. ^ de Weers, M; Tai, YT; Bakker, JM; Vink, T; Jacobs, DC; et al. (2011). "Daratumumab, a novel therapeutic human CD38 monoclonal antibody, induces killing of multiple myeloma and other hematological tumors". J Immunol. 186 (3): 1840–8. doi:10.4049/jimmunol.1003032. PMID 21187443. Retrieved 28 April 2017. 10. ^ Sawa, Teiji; Kinoshita, Mao; Inoue, Keita; Ohara, Junya; Moriyama, Kiyoshi (2019/12). "Immunoglobulin for Treating Bacterial Infections: One More Mechanism of Action". Antibodies. 8 (4): 52. doi:10.3390/antib8040052. 11. ^ Frey, Joachim (2019/12). "RTX Toxins of Animal Pathogens and Their Role as Antigens in Vaccines and Diagnostics". Toxins. 11 (12): 719. doi:10.3390/toxins11120719. 12. ^ Majima, T.; Ohashi, Y.; Nagatomi, R.; Iizuka, A.; Konno, T. (1993-05). "Defective mononuclear cell antibody-dependent cellular cytotoxicity (ADCC) in patients with leukocyte adhesion deficiency emphasizing on different CD11/CD18 requirement of Fc gamma RI versus Fc gamma RII in ADCC". Cellular Immunology. 148 (2): 385–396. doi:10.1006/cimm.1993.1120. ISSN 0008-8749. PMID 8098672. ## Further reading[edit] * Janeway CA Jr.; et al. (2001). Immunobiology (5th ed.). Garland Publishing. ISBN 0-8153-3642-X. (electronic full text via NCBI Bookshelf). * Pier GB, Lyczak JB, Wetzler LM (2004). Immunology, Infection, and Immunity. ASM Press. ISBN 1-55581-246-5. ## External links[edit] * University of Leicester, Virus Immunopathology Notes * Antibody-Dependent+Cell+Cytotoxicity at the US National Library of Medicine Medical Subject Headings (MeSH) * v * t * e Hypersensitivity and autoimmune diseases Type I/allergy/atopy (IgE) Foreign * Atopic eczema * Allergic urticaria * Allergic rhinitis (Hay fever) * Allergic asthma * Anaphylaxis * Food allergy * common allergies include: Milk * Egg * Peanut * Tree nut * Seafood * Soy * Wheat * Penicillin allergy Autoimmune * Eosinophilic esophagitis Type II/ADCC * * IgM * IgG Foreign * Hemolytic disease of the newborn Autoimmune Cytotoxic * Autoimmune hemolytic anemia * Immune thrombocytopenic purpura * Bullous pemphigoid * Pemphigus vulgaris * Rheumatic fever * Goodpasture syndrome * Guillain–Barré syndrome "Type V"/receptor * Graves' disease * Myasthenia gravis * Pernicious anemia Type III (Immune complex) Foreign * Henoch–Schönlein purpura * Hypersensitivity vasculitis * Reactive arthritis * Farmer's lung * Post-streptococcal glomerulonephritis * Serum sickness * Arthus reaction Autoimmune * Systemic lupus erythematosus * Subacute bacterial endocarditis * Rheumatoid arthritis Type IV/cell-mediated (T cells) Foreign * Allergic contact dermatitis * Mantoux test Autoimmune * Diabetes mellitus type 1 * Hashimoto's thyroiditis * Multiple sclerosis * Coeliac disease * Giant-cell arteritis * Postorgasmic illness syndrome * Reactive arthritis GVHD * Transfusion-associated graft versus host disease Unknown/ multiple Foreign * Hypersensitivity pneumonitis * Allergic bronchopulmonary aspergillosis * Transplant rejection * Latex allergy (I+IV) Autoimmune * Sjögren syndrome * Autoimmune hepatitis * Autoimmune polyendocrine syndrome * APS1 * APS2 * Autoimmune adrenalitis * Systemic autoimmune disease * v * t * e Lymphoid and complement disorders causing immunodeficiency Primary Antibody/humoral (B) Hypogammaglobulinemia * X-linked agammaglobulinemia * Transient hypogammaglobulinemia of infancy Dysgammaglobulinemia * IgA deficiency * IgG deficiency * IgM deficiency * Hyper IgM syndrome (1 * 2 * 3 * 4 * 5) * Wiskott–Aldrich syndrome * Hyper-IgE syndrome Other * Common variable immunodeficiency * ICF syndrome T cell deficiency (T) * thymic hypoplasia: hypoparathyroid (Di George's syndrome) * euparathyroid (Nezelof syndrome * Ataxia–telangiectasia) peripheral: Purine nucleoside phosphorylase deficiency * Hyper IgM syndrome (1) Severe combined (B+T) * x-linked: X-SCID autosomal: Adenosine deaminase deficiency * Omenn syndrome * ZAP70 deficiency * Bare lymphocyte syndrome Acquired * HIV/AIDS Leukopenia: Lymphocytopenia * Idiopathic CD4+ lymphocytopenia Complement deficiency * C1-inhibitor (Angioedema/Hereditary angioedema) * Complement 2 deficiency/Complement 4 deficiency * MBL deficiency * Properdin deficiency * Complement 3 deficiency * Terminal complement pathway deficiency * Paroxysmal nocturnal hemoglobinuria * Complement receptor deficiency [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	Antibody-dependent cellular cytotoxicity	None	29,375	wikipedia	https://en.wikipedia.org/wiki/Antibody-dependent_cellular_cytotoxicity	2021-01-18T18:31:47	{"mesh": ["D000920"], "wikidata": ["Q21418091"]}
16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorder. Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected people can pass the condition on to their children. [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	16p11.2 deletion syndrome	c3150154	29,376	gard	https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome	2021-01-18T18:02:27	{"omim": ["611913"], "orphanet": ["261197"], "synonyms": ["Microdeletion 16p11.2", "Chromosome 16p11.2 deletion syndrome", "Monosomy 16p11.2", "Del(16)(p11.2)", "Proximal del(16)(p11.2)", "Proximal monosomy 16p11.2"]}
Ichthyosis Bullosa of Siemens Other namesBullous type of ichthyosis Lower leg of a 12 month infant with ichthyosis bullosa of Siemens SpecialtyMedical genetics Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder.[1]:491 It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.[2] ## Contents * 1 Symptoms * 2 Genetics * 3 Diagnosis * 4 Treatments * 5 History * 6 See also * 7 References * 8 External links ## Symptoms[edit] Ichthyosis bullosa of Siemens has symptoms very similar to epidermolytic hyperkeratosis but is generally milder. Ichthyosis bullosa of Siemens affects only the upper layers of the epidermis whilst epidermolytic hyperkeratosis affects the suprabasal layer which is deeper in the skin.[3] At birth the baby's skin has a red appearance like a sun burn (erythema). Blistering is usually present at birth and may be extensive or localized depending on the severity of the disease.[4] Over the first few weeks the redness disappears and is replaced by dry, flaking skin on the arms, legs and around the belly button.[5] Other areas of skin appear normal. The skin is fragile and is prone to blistering (caused by mild trauma or sweating).[5] After a few months hyperkeratosis develops with a dark grey or brown, ridged appearance on the ankles, knees and elbows.[4] Palms and soles are generally unaffected.[3] A slightly unpleasant, sweet odour may be present.[2] A distinctive characteristic of ichthyosis bullosa of Siemens that is not present in other forms of ichthyosis is called the "Mauserung phenomenon" (Mauserung is German for "moulting" and was first described by H.W.Siemens). These are small patches of bare, apparently normal skin in the middle of areas of hyperkeratosis.[3][6] As the sufferer ages the flaking and blistering should improve. The hyperkeratosis may grow more severe but more localized and is generally only present on flexural folds of the major joints.[4] ## Genetics[edit] Ichthyosis bullosa of Siemens is an autosomal dominant genetic condition caused by a mutation in the gene for keratin 2e on chromosome 12.[4][7][8][9]:563 This means an affected person has a 50% chance of passing the condition on to their child. However, in about half of cases, there is no parent with the condition the genetic fault is due to a spontaneous mutation. [10] ## Diagnosis[edit] Mild forms of ichthyosis bullosa of Siemens should be diagnosable from appearance and patient history alone. Severe cases are hard to distinguish from mild epidermolytic hyperkeratosis. A skin biopsy shows a characteristic damaged layer in the upper spinous level of the skin. It may be difficult to distinguish from epidermolytic hyperkeratosis. The gene causing ichthyosis bullosa of Siemens is known and so a diagnosis can be confirmed by genetic testing.[4] ## Treatments[edit] Treatments for ichthyosis bullosa of Siemens generally attempt to improve the appearance of the skin and the comfort of the sufferer. This is done by exfoliating and increasing the moisture of the skin. Common treatments include: * Emollients: moisturisers, petroleum jelly or other emollients are used, often several times a day, to increase the moisture of the skin. * Baths: long baths (possibly including salt) several times a week are used to soften the skin and allow exfoliation. * Exfoliating creams: creams containing keratolytics such as urea, salicylic acid and lactic acid may be useful. * Antiseptic washes: antiseptics may be used to kill bacteria in the skin and prevent odour. * Retinoids: very severe cases may use oral retinoids to control symptoms but these have many serious side effects including, an increase in blistering.[11] ## History[edit] Ichthyosis bullosa of Siemens was first described by the German dermatologist Hermann Werner Siemens in 1937 from his study of an affected family. [12] In 1994 the gene causing ichthyosis bullosa of Siemens was discovered. In the same year, it was also proved that ichthyosis exfoliativa is the same disease as ichthyosis bullosa of Siemens.[4] ## See also[edit] * List of cutaneous conditions * List of cutaneous conditions caused by mutations in keratins ## References[edit] 1. ^ Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0. 2. ^ a b Caputo, Ruggero and Tadini, Gianluca: Atlas of Genodermatoses, Page 19, Published by Taylor & Francis, 2005, ISBN 1-84184-251-6 3. ^ a b c Harper, John; Oranje, Arnold P. and Prose, Neil S.: Textbook of Pediatric Dermatology, Page 1110, Published by Blackwell Science, 2000, ISBN 0-86542-939-1 4. ^ a b c d e f OMIM (Online Mendelian Inheritance in Man), Johns Hopkins University, Ichthyosis Bullosa of Siemens 5. ^ a b Barnhill, Raymond L. and Crowson, A. Neil: Textbook of Dermatopathology, Page 349, Published by McGraw-Hill Professional, 2004, ISBN 0-07-139660-8 6. ^ Kirkham, Nigel and Lemoine, Nicholas R.: Progress in Pathology, Page 107, Published by Cambridge University Press, 2001, ISBN 1-84110-050-1 7. ^ Rothnagel JA, Traupe H, Wojcik S, Huber M, Hohl D, Pittelkow MR, Saeki H, Ishibashi Y, Roop DR (August 1994). "Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens". Nature Genetics. 7 (4): 485–90. doi:10.1038/ng0894-485. PMID 7524919. S2CID 9123045. 8. ^ Online Mendelian Inheritance in Man (OMIM): Keratin 2 - 600194 9. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. 10. ^ Elias, Peter M and Feingold, Kenneth R. Skin Barrier, Page 490, Published by CRC Press, 2005, ISBN 0-8247-5815-3 11. ^ Vahlquist, Anders and Duvic, Madeleine: Retinoids and Carotenoids in Dermatology, Page 160, Published by CRC Press, 2007, ISBN 0-8493-3992-8 12. ^ Siemens, H.W. (1937). "Dichtung und Wahrheit ueber die Ichthyosis bullosa, mit Bemerkungen zur Systematik der Epidermolysen". Archives of Dermatology and Syphilology. 175 (5): 590–608. doi:10.1007/BF02058387. S2CID 27399327. ## External links[edit] Classification D * ICD-10: Q80.3 * OMIM: 146800 * MeSH: D053560 External resources * Orphanet: 455 * v * t * e Cytoskeletal defects Microfilaments Myofilament Actin * Hypertrophic cardiomyopathy 11 * Dilated cardiomyopathy 1AA * DFNA20 * Nemaline myopathy 3 Myosin * Elejalde syndrome * Hypertrophic cardiomyopathy 1, 8, 10 * Usher syndrome 1B * Freeman–Sheldon syndrome * DFN A3, 4, 11, 17, 22; B2, 30, 37, 48 * May–Hegglin anomaly Troponin * Hypertrophic cardiomyopathy 7, 2 * Nemaline myopathy 4, 5 Tropomyosin * Hypertrophic cardiomyopathy 3 * Nemaline myopathy 1 Titin * Hypertrophic cardiomyopathy 9 Other * Fibrillin * Marfan syndrome * Weill–Marchesani syndrome * Filamin * FG syndrome 2 * Boomerang dysplasia * Larsen syndrome * Terminal osseous dysplasia with pigmentary defects IF 1/2 * Keratinopathy (keratosis, keratoderma, hyperkeratosis): KRT1 * Striate palmoplantar keratoderma 3 * Epidermolytic hyperkeratosis * IHCM * KRT2E (Ichthyosis bullosa of Siemens) * KRT3 (Meesmann juvenile epithelial corneal dystrophy) * KRT4 (White sponge nevus) * KRT5 (Epidermolysis bullosa simplex) * KRT8 (Familial cirrhosis) * KRT10 (Epidermolytic hyperkeratosis) * KRT12 (Meesmann juvenile epithelial corneal dystrophy) * KRT13 (White sponge nevus) * KRT14 (Epidermolysis bullosa simplex) * KRT17 (Steatocystoma multiplex) * KRT18 (Familial cirrhosis) * KRT81/KRT83/KRT86 (Monilethrix) * Naegeli–Franceschetti–Jadassohn syndrome * Reticular pigmented anomaly of the flexures 3 * Desmin: Desmin-related myofibrillar myopathy * Dilated cardiomyopathy 1I * GFAP: Alexander disease * Peripherin: Amyotrophic lateral sclerosis 4 * Neurofilament: Parkinson's disease * Charcot–Marie–Tooth disease 1F, 2E * Amyotrophic lateral sclerosis 5 * Laminopathy: LMNA * Mandibuloacral dysplasia * Dunnigan Familial partial lipodystrophy * Emery–Dreifuss muscular dystrophy 2 * Limb-girdle muscular dystrophy 1B * Charcot–Marie–Tooth disease 2B1 * LMNB * Barraquer–Simons syndrome * LEMD3 * Buschke–Ollendorff syndrome * Osteopoikilosis * LBR * Pelger–Huet anomaly * Hydrops-ectopic calcification-moth-eaten skeletal dysplasia Microtubules Kinesin * Charcot–Marie–Tooth disease 2A * Hereditary spastic paraplegia 10 Dynein * Primary ciliary dyskinesia * Short rib-polydactyly syndrome 3 * Asphyxiating thoracic dysplasia 3 Other * Tauopathy * Cavernous venous malformation Membrane * Spectrin: Spinocerebellar ataxia 5 * Hereditary spherocytosis 2, 3 * Hereditary elliptocytosis 2, 3 Ankyrin: Long QT syndrome 4 * Hereditary spherocytosis 1 Catenin * APC * Gardner's syndrome * Familial adenomatous polyposis * plakoglobin (Naxos syndrome) * GAN (Giant axonal neuropathy) Other * desmoplakin: Striate palmoplantar keratoderma 2 * Carvajal syndrome * Arrhythmogenic right ventricular dysplasia 8 * plectin: Epidermolysis bullosa simplex with muscular dystrophy * Epidermolysis bullosa simplex of Ogna * plakophilin: Skin fragility syndrome * Arrhythmogenic right ventricular dysplasia 9 * centrosome: PCNT (Microcephalic osteodysplastic primordial dwarfism type II) Related topics: Cytoskeletal 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	Ichthyosis bullosa of Siemens	c1838440	29,377	wikipedia	https://en.wikipedia.org/wiki/Ichthyosis_bullosa_of_Siemens	2021-01-18T18:48:23	{"gard": ["2966"], "mesh": ["D053560", "C563978"], "umls": ["C1838440"], "orphanet": ["455"], "wikidata": ["Q5986438"]}
Harpist's fingers are a cutaneous condition caused by the repetitive playing of the harp.[1] ## See also[edit] * Equestrian perniosis * List of cutaneous conditions ## References[edit] 1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 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	Harpist's finger	None	29,378	wikipedia	https://en.wikipedia.org/wiki/Harpist%27s_finger	2021-01-18T19:06:28	{"wikidata": ["Q5663565"]}
A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders. [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	17q24.2 microdeletion syndrome	None	29,379	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=529962	2021-01-23T19:10:11	{"synonyms": ["Del(17)(q24)"]}
Thoracic endometriosis is a rare form of endometriosis where endometrial-like tissue is found in the lung parenchyma and/or the pleura. It can be classified as either pulmonary, or pleural, respectively.[1] Endometriosis is characterized by the presence of tissue similar to the lining of the uterus (the endometrium) forming abnormal growths elsewhere in the body. Usually these growths are found in the pelvis, between the rectum and the uterus, the ligaments of the pelvis, the bladder, the ovaries, and the sigmoid colon. The cause is not known. The most common symptom of thoracic endometriosis is chest pain occurring right before or during menstruation. Diagnosis is based on clinical history and examination, augmented with X-ray, CT scan, and magnetic resonance imaging of the chest. Treatment options include surgery and hormones. ## Contents * 1 Signs and symptoms * 1.1 Complications * 2 Cause * 3 Pathophysiology * 4 Diagnosis * 5 Treatment * 6 Epidemiology * 7 References ## Signs and symptoms[edit] Thoracic endometriosis is characterised by onset of the following clinical symptoms within 24 hours prior to and 72 hours after onset of menses. * Catamenial pneumothorax: this is the most common clinical manifestation, present in 80% of cases. Catamenial pneumothorax is defined as a recurrent pneumothorax that occurs within the first 72 hours after menstruation. It may not necessarily occur with every menstrual cycle and in most cases is one-sided and on the right side. There are cases of catamenial pneumothorax on the left side, and on very rare occasions there may be a bilateral catamenial pneumothorax. Symptoms are the same as for other types of pneumothorax: chest pain, cough and breathlessness. Symptoms are usually mild but there may be severe presentations.[2] * Catamenial hemothorax: this is a rare manifestation of thoracic endometriosis, occurring in 14% of cases. In almost all cases, the right side is affected but has been one case of a bilateral catamenial hemothorax documented. The most common presenting symptoms are nonspecific and include cough, chest pain and shortness of breath. In some cases, signs may mimic pulmonary embolism. The quantity of blood loss varies, but severe anemia is possible. In almost all cases, chest x-ray shows the presence of pleural effusion without specific characteristics. A CT scan may show additional features such as nodular lesions of the pleura, multiloculated effusions, or bulky pleural masses.[2] * Cyclic haemoptysis: haemoptysis during menstruation is extremely rare, with about 30 case reports in medical literature.[3] Currently, there have been no reports of massive haemoptysis or death. Cyclic haemoptysis is a sign of pulmonary parenchymal endometriosis; ectopic endometrial tissue in the lung responds to cyclical hormonal variation, bleeding along with the normal endometrium located in the uterus.[2] * Pulmonary nodules: nodules are common radiological features in patients with thoracic endometriosis; most cases are associated with catamenial haemoptysis. A woman with thoracic endometriosis may also have dysmenorrhoea and irregular menses.[4] ### Complications[edit] Pneumothorax and haemothorax are rarely life-threatening. The most common complication is progressive tissue damage or scarring related to inflammation, and in extremely rare cases malignant transformation of the endometrial-like tissue.[1] ## Cause[edit] The cause of thoracic endometriosis is unknown.[5] Those with previous surgeries are more prone to developing thoracic endometriosis due to the surgical manipulation that can cause embolisation of the endometrial tissue into the thoracic cavity. Some thoracic endometriosis patients have been described as having a congenital defect in the diaphragm. There is also an association between thoracic and pelvic endometriosis.[medical citation needed] ## Pathophysiology[edit] The endometrium, the tissue that normally lines the female uterus, undergoes changes with each menstrual cycle. At the end of each cycle and after the lining has thickened in preparation for hosting a fertilised ovum, it sloughs off, detaches, and is expelled through the cervix and vagina in the process of menstruation. In endometriosis, some endometrial-like tissue is found in other parts of the body; most often the pelvis and abdomen, the central nervous system, the nasal passages, skin and thorax. At these other 'ectopic' sites, endometrium tissue still responds to hormones with normal cyclical changes - bleeding roughly every 28 days.[medical citation needed] Theories explaining distant ectopic endometriosis include: * Vasculogenesis: Up to 37% of the microvascular endothelium of ectopic endometrial tissue originates from endothelial progenitor cells, which result in de novo formation of microvessels by the process of vasculogenesis rather than the conventional process of angiogenesis.[6][clarification needed] * Lymphatic spread: endometrial fragments travel through the thoracic duct and hilar lymph nodes, reaching the chest cavity and causing pulmonary or pleural endometriosis.[7] * Coelomic metaplasia theory: the pleura and peritoneum share the same embryological origin, both derived from mesothelium. A pathological stimulus could be responsible for inducing precursor cells (mesothelial stem cells) of the pleura or peritoneum in order to differentiate into endometrial cells.[7] * Vascular embolisation: endometrial fragments are taken into the venous system, travel through the right side of the heart, and are deposited in the pulmonary circulation. The endometrial tissue settles in the lung parenchyma or pleura.[7] A review of autopsy data showed that patients with endometriosis have bilateral pulmonary lesions, which supports the vascular embolisation theory. The pleural and/or diaphragmatic lesions were always found on the left side, which supports the theory of coelomic metaplasia.[medical citation needed] ## Diagnosis[edit] The diagnosis of thoracic endometriosis is primarily based on clinical history and examination, augmented with non-invasive studies such as X-ray, CT scan, and magnetic resonance imaging of the chest. Pelvic ultrasound is also useful to determine if the patient has any degree of pelvic or abdominal endometriosis (indicated by the presence of free fluid). More invasive methods for obtaining a tissue diagnosis of thoracic endometriosis include video thoracoscopy (for pleural or pulmonary biopsy), or bronchoscopy (for pulmonary or bronchial biopsy, or bronchial lavage).[2] A case series has been reported in which clinical diagnosis was made in 50% of patients, the rest being diagnosed either via biopsy (25%) or bronchoalveolar lavage (25%).[citation needed] ## Treatment[edit] Definitive diagnosis is necessary to avoid unnecessary treatment and exclude more serious diagnoses (for example, haemoptysis, pleural effusion or cancer). Overall treatment for pulmonary endometriosis is surgical, with subsegmentectomy. Preserving lung parenchyma is a priority while removing macroscopic signs of pathological tissue.[5] Medical treatment can include the use of gonadotropin-releasing hormone analogues, which can cause cessation of menstruation. Side effects of this treatment can be decreased libido, as well as a 50% recurrence rate.[8][9] Even in the asymptomatic, treatment is recommended to prevent possible complications listed above.[medical citation needed] ## Epidemiology[edit] Thoracic endometriosis affects women aged 15–54, who are between menarche and menopause. It can affect their quality of life, with catamenial pneumothorax being the most common presentation.[1] ## References[edit] 1. ^ a b c Rojas, J. (2014). Endometriosis pulmonar parenquimal. Rev Soc Peru Med Interna, 27(1). 2. ^ a b c d Alifano, M. (n.d.). Thoracic Endometriosis: Current Knowledge. Retrieved July 7, 2016, from http://www.annalsthoracicsurgery.org/article/S0003-4975(05)01322-6/fulltext?refuid=S0003-4975(11)02531-8&refissn=0003-4975 3. ^ McGraw-Hill Medical\| AccessMedicine \| McGraw-Hill Medical http://accessmedicine.mhmedical.com/content.aspx bookid=331 4. ^ U.S National Library of Medicine https://www.nlm.nih.gov/medlineplus/spanish/ency/article/000915.htm 5. ^ a b Endometriosis pulmonar torácica: presentación de 2 casos de una enfermedad muy poco frecuente \| Archivos de Bronconeumología http://www.archbronconeumol.org/es/thoracic-pulmonary-endometriosis-two-reports/articulo/S030028961300358X/ 6. ^ Laschke MW, Giebels C, Menger MD (2011). "Vasculogenesis: a new piece of the endometriosis puzzle". Hum. Reprod. Update. 17 (5): 628–36. doi:10.1093/humupd/dmr023. PMID 21586449. 7. ^ a b c Endometriosis parenquimatosa pulmonar multifocal.Patologia, 262-266 8. ^ http://www.elsevier.es/es-revista-progresos-obstetricia-ginecologia-151-articulo-neumotorax-catamenial-recurrente-13067055 9. ^ Korean J Obstet Gynecol. 2012 Dec;55(12):1031-1034. Korean. Published online Dec 18, 2012. https://dx.doi.org/10.5468/KJOG.2012.55.12.1031 [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	Thoracic endometriosis	c4049489	29,380	wikipedia	https://en.wikipedia.org/wiki/Thoracic_endometriosis	2021-01-18T18:52:55	{"umls": ["C4049489"], "icd-9": ["617.9"], "wikidata": ["Q2188844"]}
Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects. ## Epidemiology Incidence is estimated at 1/10,000 live births. ## Clinical description Severity varies and only 30% of patients manifest the complete clinical triad with many patients having associated findings. Some patients present at birth with SOD associated with multiple congenital anomalies, whereas others present during childhood with growth failure and/or visual anomalies (most frequently strabismus or nystagmus). The optic nerve hypoplasia can be uni- or bilateral (57% and 32% of cases, respectively) and significant visual impairment occurs in 23% of patients. Hypopituitarism is present in 62-80% of patients and although growth hormone deficiency (leading to short stature in childhood) is the most frequent endocrine anomaly, additional hormone insufficiencies may develop (thyroid-stimulating, adrenocorticotropic and gonadotropin-releasing hormone deficiencies). Midline brain defects include agenesis of the septum pellucidum (60% of cases) and/or corpus callosum. Associated cortical malformations have also been reported (sometimes referred to as SOD-plus syndrome). Intellectual deficit and neurological manifestations (developmental delay, seizures and cerebral palsy) may be present. Additional findings may include diabetes insipidus, sleep disorders, autism, precocious puberty, obesity, thermoregulatory disturbances, anosmia, sensorineural hearing loss and cardiac and digital anomalies. ## Etiology The majority of SOD cases are sporadic but familial cases have been described. Both homozygous (autosomal recessive transmission) and heterozygous (autosomal dominant transmission) HESX1 mutations (3p21.2-p21.1) have been described in familial cases. Three additional genes have been implicated in associated phenotypes that may be considered as part of the SOD spectrum: SOX2 mutations (3q26.3-q27) associated with anophthalmia/microphthalmia and features of SOD; mutations/duplications in the SOX3 gene (Xq26.3) associated with midline brain anomalies and hypopituitarism (although no eye defects have yet been described); and OTX2 mutations (14q21-q22) associated with hypopituitarism and anterior pituitary hypoplasia, with or without eye defects. Mutations in these genes are detected in < 1% of patients and environmental factors (drug and alcohol abuse, young maternal age) may also be involved. ## Diagnostic methods Clinical diagnosis requires the presence of at least two of the features of the classical triad and can be confirmed by ophthalmological studies, MRI, and dynamic pituitary function tests. SOD should be suspected in newborns with hypoglycemia, jaundice, microphallus (with or without undescended testes) and nystagmus with or without associated midline abnormalities (such as cleft palate). ## Differential diagnosis Differential diagnoses include congenital hypopituitarism and holoprosencephaly (see these terms). ## Antenatal diagnosis OD may be suspected antenatally by ultrasound and subsequent fetal MRI studies. ## Genetic counseling Genetic prenatal diagnosis and genetic counseling may be proposed to families in which the disease-causing mutation has been identified, but caution needs to be exercised in cases with autosomal dominant inheritance as the phenotype and penetrance may be highly variable. ## Management and treatment Treatment is symptomatic and SOD patients should be managed by a multidisciplinary team with regular follow-up. Hormone insufficiencies can be treated with hormone replacement therapy but close monitoring is required as the hormone deficiencies evolve with age. Children may benefit from developmental programs for the visually impaired, as well as from physical, and occupational therapies. ## Prognosis Prognosis is variable, depending on the severity of the disease. Early diagnosis is associated with a better outcome as it allows timely management of hormone insufficiencies. [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	Septo-optic dysplasia spectrum	c0162809	29,381	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3157	2021-01-23T18:48:14	{"gard": ["7627"], "mesh": ["D025962", "D017436"], "omim": ["182230"], "umls": ["C0162809", "C0338503"], "icd-10": ["Q04.4"], "synonyms": ["De Morsier syndrome", "SOD", "Septo-optic dysplasia"]}
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa. ## Epidemiology SS has an estimated annual incidence of approximately 1/250,000. The disease predominantly affects women in young adulthood. ## Clinical description The mean age of onset of neurological symptoms is 39 years, though the livedo is generally observed up to 10 years earlier and sometimes since childhood. Livedo racemosa is a persistent net-like violaceous-cyanotic, mottled discoloration of the skin affecting primarily the legs and arms, but also involving the buttocks and the trunk, and that is exacerbated by cold or pregnancy. Livedo reticularis, that is limited to the extremities and is visible only in the cold, has also been observed in some cases. Neurological manifestations include recurrent transient ischemic attacks (TIAs) and infarcts, often of the middle cerebral artery territory resulting in contralateral hemiparesis, aphasia, and/or visual field defects. Rarely, spinal strokes or intracranial or subarachnoid hemorrhages occur. Headache and vertigo may precede the onset of livedo racemosa and cerebrovascular manifestations by several years. In the course of the disease, memory disturbances, personality changes, and cognitive decline leading to dementia occur frequently. Rare neurologic symptoms include seizures, chorea, or myelopathies. Secondary hypertension is common, as are valvular heart disease, ocular and kidney involvement. ## Etiology While about 50% of cases are idiopathic, SS can be associated with autoimmune diseases like systemic lupus erythematosus, antiphospholipid syndrome, Behçet disease, and mixed connective tissue disease (see these terms). The manifestations of SS are caused by a progressive, non-inflammatory arteriopathy, usually of the small to medium arteries, leading to occlusion of these arteries by excessive endothelial proliferation with impaired blood flow and clotting. Genetic factors may play a role in the pathogenesis of SS. Loss-of-function mutations in cat eye syndrome chromosome region candidate 1 CECR1 (22q11.2) encoding adenosine deaminase 2 have been found. ## Diagnostic methods SS is suspected on the basis of the clinical picture. It has to be considered in cases of unexplained stroke at a young age, cognitive decline without stroke, and assumed autoimmune-related vasculitis in which immunosuppressive therapy has proven ineffective. Skin biopsy may confirm the diagnosis, revealing occlusion of arterioles by intimal proliferation. MRI typically reveals white matter changes, infarcts, microbleeds or atrophy, and is more sensitive than CT. Laboratory testing for antiphospholipid antibodies may be positive in about 60% of cases. ## Differential diagnosis Differential diagnoses include reversible cerebral vasoconstriction syndrome, MELAS syndrome, cerebrovascular dementia (see these terms), migraine, the autoimmune diseases with which SS can be associated, and cerebral angiitis. ## Genetic counseling Most cases are sporadic but some familial cases with an autosomal dominant inheritance have been reported. In these cases, a genetic susceptibility is likely. ## Management and treatment The most widely accepted treatment is anticoagulation with warfarin. Some suggest that aPL-negative patients should follow a less aggressive approach consisting of antiplatelet therapy with aspirin, while others recommend warfarin with a higher international normalized ratio (coagulation index) target. Angiotensin-converting enzyme (ACE) inhibitors have been suggested to reduce endothelial proliferation, and prostaglandin to improve microvascular perfusion. Successful intravenous systemic fibrinolysis with tissue plasminogen activator (tpA) has been reported in acute ischemic stroke. While the use of immunosuppressive therapy (azathioprine, cyclophosphamide) doesn't seem effective, there are data indicating that rituximab may be effective in aPL-positive patients. ## Prognosis SS is a chronic, intermittent or progressive disease leading to major morbidity. Dementia occurs in 50% of patients resulting in early retirement. [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	Sneddon syndrome	c0282492	29,382	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=820	2021-01-23T18:53:47	{"gard": ["7664"], "mesh": ["D018860"], "omim": ["182410"], "umls": ["C0282492"], "icd-10": ["I77.8"], "synonyms": ["Ehrmann-Sneddon syndrome", "Livedo racemosa-cerebrovascular accident syndrome", "Livedo reticularis-cerebrovascular accident syndrome"]}
A number sign (#) is used with this entry because pyruvate dehydrogenase E1-alpha deficiency (PDHAD) is caused by mutation in the gene encoding the E1-alpha polypeptide (PDHA1; 300502) of the pyruvate dehydrogenase (PDH) complex, which maps to chromosome Xp22. Description Genetic defects in the pyruvate dehydrogenase complex are one of the most common causes of primary lactic acidosis in children. Most cases are caused by mutation in the E1-alpha subunit gene on the X chromosome. X-linked PDH deficiency is one of the few X-linked diseases in which a high proportion of heterozygous females manifest severe symptoms. The clinical spectrum of PDH deficiency is broad, ranging from fatal lactic acidosis in the newborn to chronic neurologic dysfunction with structural abnormalities in the central nervous system without systemic acidosis (Robinson et al., 1987; Brown et al., 1994). ### Genetic Heterogeneity of Pyruvate Dehydrogenase Complex Deficiency PDH deficiency can also be caused by mutation in other subunits of the PDH complex, including a form (PDHXD; 245349) caused by mutation in the component X gene (PDHX; 608769) on chromosome 11p13; a form (PDHBD; 614111) caused by mutation in the PDHB gene (179060) on chromosome 3p14; a form (PDHDD; 245348) caused by mutation in the DLAT gene (608770) on chromosome 11q23; a form (PDHPD; 608782) caused by mutation in the PDP1 gene (605993) on chromosome 8q22; and a form (PDHLD; 614462) caused by mutation in the LIAS gene (607031) on chromosome 4p14. Clinical Features In general, there are 2 major presentations of PDH deficiency, metabolic and neurologic, which occur at equal frequency. The metabolic form presents as severe lactic acidosis in the newborn period, usually leading to death. Patients with the neurologic presentation are hypotonic and lethargic, and develop seizures, mental retardation, and spasticity. They often have structural abnormalities in the central nervous system with minimal or absent metabolic abnormalities. Between these 2 extremes, there is a continuous spectrum of intermediate forms characterized by intermittent episodes of lactic acidosis associated with cerebellar ataxia. Many patients fit into the category of Leigh syndrome (256000) (Brown et al., 1994). Blass et al. (1970) reported deficiency of pyruvate decarboxylase in an 8-year-old boy who had suffered 2 to 6 episodes of ataxia each year since the age of 16 months. Most attacks followed nonspecific febrile illness or other stresses. Choreoathetosis and cerebellar ataxia were present during the episodes, with mild clumsiness between episodes. Laboratory studies showed increased blood pyruvic acid, increased blood alanine, and a decreased activity of pyruvate decarboxylase (20% of normal). The father's fibroblasts and leukocytes showed partially defective pyruvate decarboxylase, and values in the mother were at the lower limit of normal. The patient of Blass et al. (1970) was reminiscent of a boy reported by Lonsdale et al. (1969) with intermittent ataxia and choreoathetosis precipitated by acute infections. Both patients showed conspicuous abnormalities of eye movement as in Wernicke-Korsakoff syndrome (277730). Thiamine in large doses appeared to benefit Lonsdale's patient. Farrell et al. (1975) reported a 6-month-old infant with fatal congenital lactic acidosis and deficiency of pyruvate decarboxylase. Stromme et al. (1976) reported an infant with increased blood lactate, alanine, and serine. Fibroblasts cultured from skin showed a severe decrease in activity of the PDH complex (8% of normal) and the first enzyme of the complex (4% of normal). Livingstone et al. (1984) described a family in which 5 males in 3 sibships had intermittent cerebellar ataxia and biochemical features of abnormal pyruvate metabolism. The patients were related through 3 presumed carrier females. Postmortem examination of 1 of the affected males, who died at age 50, showed neuropathologic findings suggestive of Leigh syndrome. There was cerebellar degeneration with a distribution suggestive of olivopontocerebellar atrophy, but the histologic appearance in tissues around the third ventricle and aqueduct was similar to those seen in Wernicke encephalopathy and in Leigh syndrome. There was no response to administration of thiamine. One of the affected males had recurrent episodes of ataxia and dysarthria beginning at the age of 3 years. Each attack lasted from 2 to 12 days and occurred every 3 to 4 months. Episodes were less severe and less frequent after the age of 14 years, and he was able to hold down a steady job as a laborer. In a teenaged affected male, elevated levels of fasting serum lactate and pyruvate were noted during recovery from a typical attack. At 10 years of age, his IQ was 65. One male died of pneumonia at the age of 5 years after recurrent attacks of hyperventilation and unsteadiness from the age of 3 years. Livingstone et al. (1984) observed at least a temporary favorable response to acetazolamide, and suggested that the basic defect might reside in the gene for the E1-alpha component of the pyruvate dehydrogenase complex. Robinson and Sherwood (1984) found that 18 of 23 patients with congenital lactic acidemia had a defect in the first component of the PDH complex. Ten cases had facial dysmorphism consisting of a narrow head, wide nasal bridge and flared nostrils, and microcephaly. Two patients had agenesis of the corpus callosum. In a study of 30 patients with defect in the PDH complex E1 component Robinson et al. (1987) found that residual activity of the PDH complex ranged from 1.6% to 69.5% of controls. Seven patients died before 6 months of age, and another 5 before 2 years of age. Sixteen of the surviving patients and the 5 who died before age 2 had psychomotor retardation, and 17 children had structural damage of the central nervous system, ranging from cerebral atrophy to cystic lesions in the cortex, basal ganglia, and brainstem resembling Leigh syndrome. Evans (1984) reported episodic weakness in pyruvate decarboxylase deficiency. Brown et al. (1988) reported 6 patients with early onset of neurologic symptoms, gross cerebral changes, and increased levels of pyruvate and lactate in cerebrospinal fluid. Although the patients appeared to have a defect in pyruvate metabolism as evidenced by deficient pyruvate dehydrogenase activity in cultured fibroblasts, systemic acidosis was not a problem clinically and blood pyruvate and lactate concentrations were only slightly raised. Brown et al. (1988) termed this form of the disorder 'cerebral' lactic acidosis. Kerr et al. (1988) described 2 brothers who had E1 deficiency in liver, skeletal muscle, and heart. The pyruvate dehydrogenase complex showed about 30% activity in kidney. The second (E2) and third (E3) components of the complex were normal. PDH activity was less than 10% of controls in lymphocytes, but normal in skin fibroblasts. Kerr et al. (1988) considered the possibility of X-linked inheritance because these patients and 4 other similarly affected patients with absence of both E1 subunits were male and because the mother, but not the father, had reduced enzyme activity in her lymphocytes. The fact that the maternal grandmother and great-grandmother had normal lymphocyte pyruvate dehydrogenase activity suggested that the mutation had originated with the mother of the brothers. The clinical course was as severe as in the usual cases, but the neuropathologic findings of Leigh syndrome were not found. Kerr et al. (1988) noted that if the activity of pyruvate dehydrogenase had not been found to be very low in lymphocytes, the defect could easily have been overlooked because of the normal activity in fibroblasts. In the patients reported by Kerr et al. (1988), Wexler et al. (1992) identified a mutation in the PDHA1 gene (300502.0008). Matthews et al. (1993) reported an infant with a clinical diagnosis of Leigh syndrome. He was delivered by cesarean section at 36 weeks because of worsening preeclampsia and a breech presentation, and was limp and apneic on delivery. He showed little growth or development and died at about 13 weeks. Pathologic findings were consistent with subacute necrotizing encephalomyelopathy, and deficiency of the pyruvate dehydrogenase complex was demonstrated enzymatically. Dahl and Brown (1994) described a male infant with E1-alpha deficiency who died suddenly at the age of 18 months after becoming acutely ill with an intercurrent viral illness. Marked spongiform change was found in the globus pallidus and less extensive degenerative change in the dentate nucleus and surrounding white matter. He had previously been found to have developmental delay and biochemical evidence of compensated metabolic acidosis with mild elevation of the blood lactate and pyruvate concentrations. A mutation was identified in the PDHA1 gene (300502.0012). Takakubo et al. (1995) reported a 10-month-old male with E1-alpha deficiency who presented with intermittent divergent squint. A half brother had died at age 33 months with autopsy-confirmed Leigh syndrome after a progressive neurologic illness that began with ocular symptoms. No other neurologic abnormalities were found in the proband, and blood lactate and pyruvate levels were within normal limits. However, cerebrospinal fluid lactate and pyruvate levels were markedly raised, and cultured skin fibroblasts showed PDH complex activity of 28% and PDHA1 activity of 23% of normal control mean. A mutation in the PDHA1 gene (300502.0017) was found in the proband, an affected brother, and the mildly affected mother. Naito et al. (1997) reported a boy with PDHAD born at term to healthy, consanguineous parents. At age 4 months, he showed developmental delay. He had increased blood lactate and pyruvate as well as basal ganglia lesions on MRI, consistent with Leigh syndrome. His older brother had shown a similar disorder, with hypotonia, mental retardation, lactic acidemia, and basal ganglia lesions. The brothers died at ages 6 and 4 years from respiratory failure. The index patient showed some clinical improvement with thiamine therapy. De Meirleir et al. (1998) reported a 3-year-old boy and a younger sister with E1-alpha deficiency caused by mutation in the PDHA1 gene (300502.0019). The boy showed general hypotonia during development, and from the age of 3 months had several episodes of ptosis lasting 1 to 2 days. These episodes became more frequent between 15 and 17 months of age and were associated with swallowing disturbances and hypotonia, paralysis of lateral gaze, and tachypnea. Metabolic acidosis was found. He had 2 episodes of acute ataxia with weakness between the ages 2 and 3 years. MRI of the brain demonstrated bilateral pallidal lesions and demyelinating pons lesions. The more severely affected younger sister presented from birth with severe hypotonia and dysmorphia and by the age of 10 months developed spastic quadriplegia with areflexia and severe mental retardation. Okajima et al. (2006) reported a 7-year-old boy with E1-alpha deficiency resulting from somatic mosaicism for a splice site mutation in the PDHA1 gene. The diagnosis was difficult due to the relatively mild and nonspecific features. He presented at age 6 months with moderately delayed motor development and was subsequently found to have intermittent elevated blood lactate on several occasions. Other biochemical studies and brain MRI were normal. At 18 months, he had mild microcephaly, mild global developmental delay, central hypotonia, and mild spasticity of the lower extremities. He spoke his first words at 14 months and walked at 24 months. Repeat measurements showed increased CSF lactate and pyruvate, and the correct diagnosis was made. At age 6 years, he had cognitive impairment, showed some repetitive automatisms, poor attention span, hyperactivity, and mild hypotonia. Total PDC activity was significantly decreased in fibroblasts and skeletal muscle, but normal in lymphocytes. Detailed genetic, biochemical, and Western blot analysis of buccal cells, hair, lymphoblasts, and fibroblasts showed a mixed species of mutant and normal E1-alpha, with corresponding variable activity and immunoreactivity, all consistent with somatic mosaicism. ### Heterozygous Females Dahl et al. (1992) described 3 female patients with pyruvate dehydrogenase deficiency due to mutation in the PDHA1 gene (300502.0009). Two of the patients demonstrated typical features of the disorder with severe neurologic dysfunction, degenerative changes, and developmental anomalies in the brain, together with variable lactic acidosis. Both had manifestations from early after birth; 1 died at 5 months and the other at 17 years. The third patient, an adult who was the mother of the 17-year-old, had delayed development. She did not walk until 4 years of age and could not spell until she was 20. She had epilepsy which was reasonably controlled with medication. The mother had 4 brothers, all of normal intelligence. Dahl et al. (1992) suggested that she may have been a mosaic for an early somatic mutation. Matthews et al. (1994) reported 2 female patients with early-onset encephalopathy and lactic acidosis who had PDH activity in the normal range. One had mild dysmorphic features, antimongoloid slant of the eyes, a broad philtrum, and microcephaly. There was generalized brain atrophy, ventriculomegaly, and a frontoparietal cystic lesion. The X-inactivation pattern in the fibroblasts was 80 to 20. This was the third child of consanguineous parents; a previous male infant had died with severe developmental delay and lactic acidosis. The second patient was hypotonic with marked developmental delay, cerebral atrophy, and extensor infantile spasms at 2 months of age. X-inactivation pattern was 70 to 30. The authors noted that PDH activity was well within the normal range in both girls and the diagnosis was only possible by DNA studies, which identified mutations in the PDHA1 gene (300502.0015; 300502.0016). Shevell et al. (1994) described 3 infant girls with PDH complex deficiency. MRI revealed hypoplasia, particularly of the posterior part of the corpus callosum, as well as global white matter loss without heterotopias. Phosphorus magnetic resonance spectroscopy (MRS) of muscle revealed abnormally low phosphorylation potentials. Proton MRS of the brain demonstrated a large increase in signals of lactic acid and decrease of the relative signal intensity of N-acetylaspartate. The authors proposed that cerebral dysgenesis and cerebral lactic acidemia should suggest PDH complex deficiency. Lissens et al. (1999) reported 2 unrelated girls with PDH deficiency caused by 2 different mutations in the PDHA1 gene (300502.0020; 300502.0021). Both patients had spastic quadriplegia, severe mental retardation, and microcephaly. One patient presented at the age of 5 months with infantile spasms. Lactate levels in blood and cerebrospinal fluid were increased, with a normal lactate/pyruvate ratio. Brain MRI at the age of 13 years revealed asymmetric irregular ventricular enlargement, abnormally steep angle of the Sylvian fissures, normal myelination, an intact corpus callosum, and a normal-sized cerebellum. In the second patient, MRI of the brain showed cortical atrophy of both cerebral hemispheres and cerebellum, a partial agenesis of the corpus callosum, and dilatation of the lateral and third ventricles. Both patients had low PDH activity, but normal amounts of all subunits on Western blotting. Blood lactate and pyruvate levels were increased, with a normal lactate/pyruvate ratio. X-inactivation studies in fibroblast DNA showed that the second patient had an almost completely skewed inactivation pattern. Biochemical Features With a polyclonal antibody, Wicking et al. (1985) identified absence of the E1 alpha-subunit in a patient with severe neonatal lactic acidosis and structural alteration of the E1 protein in another patient with severe brain damage associated with less severe lactic acidosis. Birch-Machin et al. (1988) described an infant with severe pyruvate dehydrogenase deficiency who had low concentrations of both the alpha and beta subunits of E1 in immunochemical studies of liver and skeletal muscle mitochondrial fractions. Using both specific antibodies to pyruvate dehydrogenase and cDNAs coding for its 2 alpha and beta subunits, Wexler et al. (1988) characterized 11 patients with PDH deficiency. Three different patterns were found: 7 patients had immunologically detectable cross-reactive material for the alpha and beta proteins of PDH; 2 patients had no detectable cross-reactive protein for either subunit, but had normal amounts of mRNA for both subunits; and 2 patients had no detectable cross-reactive proteins with diminished amounts of the alpha subunit mRNA only. The results indicated that loss of PDH activity may be associated with either absent or catalytically inactive proteins or with decreased mRNA. When mRNA for 1 of the subunits is lacking, both protein subunits are absent, suggesting that a mutation affecting the expression of one of them causes the remaining uncomplexed subunit to be unstable. In a patient with intermittent ataxia, a disorder of pyruvate metabolism, and an X-linked pattern of inheritance, Bindoff et al. (1989) found immunochemical evidence for E1 deficiency in skeletal muscle mitochondria. Diagnosis Brown et al. (1994) reviewed all aspects of PDH deficiency, including prenatal diagnosis and treatment. They noted that the biochemical abnormalities may be minimal and easily overlooked, especially when the patient has extensive structural defects in the brain. The variable manifestations of the disorder in heterozygous females is largely determined by differences in the pattern of X inactivation, and there are considerable difficulties in establishing the diagnosis when it is based on measurements of enzyme activity and immunoreactive protein. In a significant number of patients with biochemical evidence of a defect in the E1-alpha component of the pyruvate dehydrogenase complex, it is not possible to identify a mutation in the gene coding regions. Brown et al. (1997) developed a method to screen for E1-alpha gene defects based on complementation of the enzyme deficiency in transformed fibroblast cell lines following transfection and expression of the normal cDNA. Using this system, cell lines from patients with a variety of different defined mutations in the PDHA1 gene showed restoration of enzyme activity. A number of patients were identified in whom deficient enzyme activity was not restored by expression of the normal cDNA, indicating that an alternative explanation for the enzyme defect must be sought. Clinical Management Falk et al. (1976) reported successful treatment of PDH deficiency with a ketogenic diet. McCormick et al. (1985) reported the successful use of sodium benzoate in a neonate with hyperammonemia associated with congenital lactic acidosis caused by a partial deficiency of the E1 component of the PDH complex. The authors noted that this biochemical disturbance had not previously been observed in PDH deficiency. Fouque et al. (2003) investigated the underlying mechanism for the differential response to dichloroacetate (DCA), a structural pyruvate analog, in fibroblasts from 3 PDHC-deficient patients with very low levels of PDHC activity, unstable polypeptides, and different mutations in the E1-alpha subunit: 2 point mutations and a deletion mutation. Cell lines with the point mutations responded to treatment, whereas the cell line with the deletion did not. Fouque et al. (2003) concluded that mutations that retain catalytic activity may be DCA responsive due to increased E1-alpha subunit stability and that DCA may be useful as an adjunct to ketogenic and thiamine treatment. ### Thiamine-Responsive Pyruvate Dehydrogenase Deficiency Lonsdale et al. (1969), Brunette et al. (1972), and Wick et al. (1977) reported patients who benefited from thiamine. Naito et al. (1994) reported a patient with thiamine-responsive deficiency of the PDH complex, resulting from a reduced affinity of the PDHC for thiamine pyrophosphate (TPP). Naito et al. (1998) reported on the characteristics of 13 patients with thiamine-responsive lactic acidemia and examined the activity of the PDH complex to sodium dichloroacetate (DCA), known as an activator of PDHC. Three groups were identified according to PDHC activity in cell culture: 2 patients had very low PDHC activity, which was not increased by DCA but was increased at high TPP concentrations; 5 patients displayed below normal PDHC activity, which was increased by DCA and by high TPP concentrations; and 6 patients had normal PDHC activity at low and high TPP concentrations, which was increased by DCA. The authors concluded that PDHC deficiency in the patients of the first 2 groups was due to a decreased affinity of PDHC for TPP. Naito et al. (2002) reported 2 unrelated male patients with thiamine-responsive E1-alpha deficiency. Both boys had onset of weakness, hypotonia, and gait instability at an early age, and had mutations in the PDHA1 gene (300502.0012 and 300502.0023). Analysis of cultured lymphoblastoid cells from the patients showed a decrease in E1 affinity for TPP and a significant increase in PDH complex and E1 activity in response to high TPP concentrations. With thiamine therapy, both patients showed clinical improvement in blood lactate and pyruvate concentrations and in neurologic symptoms. Inheritance Benke et al. (1982) suggested the existence of an X-linked recessive form of Leigh syndrome on the basis of their observation of affected half brothers (with different fathers), a sex ratio of M1.83:F1.0 in reported cases, and a reported excess of male sibs in reported familial cases. For example, Montpetit et al. (1971) reported a family in which 2 of 4 brothers were affected; their mother had a brother who died at 2.7 years with spastic quadriplegia and another brother who died at 8 months following a viral illness and convulsions. Kissach et al. (1974) described 2 affected brothers who had 2 maternal uncles, aged 47 and 49 years, with nystagmus, chorea, and hypercapnia, and, in 1, intermittent coma. Molecular Genetics In a male patient with lactic acidosis and decreased pyruvate dehydrogenase E1 activity, Endo et al. (1989) identified a 4-bp deletion in the PDHA1 cDNA (300502.0001). In a female patient with PDH deficiency and decreased levels of the E1-alpha subunit, Dahl et al. (1990) identified a 7-bp deletion in the PDHA1 gene (300502.0002). The authors noted that the severity of the deficiency in affected females is largely dependent on the X-chromosome inactivation patterns in the brain. Dahl et al. (1992) cataloged 20 different mutations, including deletions, insertions, and point mutations. Twelve of the 20 mutations occurred in exons 10 and 11 of this 11-exon gene. Four of the mutations were seen in unrelated patients. In a male infant with PDHAD presenting as acute Leigh syndrome, Matthews et al. (1993) identified a point mutation in the PDHA1 gene (D258A; 300502.0011). In a review of the literature, Matthews et al. (1994) noted that most of the reported mutations in the E1-alpha gene were unique. The sex ratio of PDH E1-alpha deficiency was approximately 1:1, but almost all of the missense mutations had been identified in males and almost all of the deletions or insertions had been found in females. Matthews et al. (1994) speculated that insertions and deletions in hemizygous males may cause intrauterine death. In a boy who presented with Leigh syndrome, Naito et al. (1997) identified a mutation in the PDHA1 gene (R263G; 300502.0022). His unaffected mother was heterozygous for the mutation. Functional studies of cells from the patient and his mother showed decreased affinity of the pyruvate dehydrogenase complex, and the E1 subunit in particular, for thiamine pyrophosphate, a necessary coenzyme. Naito et al. (1997) suggested that variable expression of pyruvate dehydrogenase complex deficiencies may depend on surrounding concentrations of thiamine and thiamine pyrophosphate. INHERITANCE \- X-linked dominant GROWTH Weight \- Low birth weight HEAD & NECK Head \- Microcephaly \- Narrow head Face \- Frontal bossing \- Long philtrum Eyes \- Episodic ptosis \- Abnormal eye movements Nose \- Wide nasal bridge \- Upturned nose \- Flared nostrils NEUROLOGIC Central Nervous System \- Hypotonia \- Lethargy \- Psychomotor retardation \- Mental retardation (in a subset of patients) \- Seizures \- Ataxia, episodic, occurring after febrile illness or stress \- Choreoathetosis \- Dystonia \- Cerebral atrophy \- Cystic lesions in the basal ganglia, brainstem, and cerebral hemispheres similar to Leigh syndrome ( 256000 ) \- Agenesis of the corpus callosum \- Ventricular dilatation \- Patients may have no structural abnormalities in the central nervous system \- Magnetic resonance spectroscopy (MRS) shows increased lactate in the central nervous system METABOLIC FEATURES \- Lactic acidosis, severe \- Lactic acidosis, chronic \- A subset of patients may have subtle increases in blood lactate \- A subset of patients may have normal levels of blood lactate LABORATORY ABNORMALITIES \- Increased blood pyruvic acid \- Increased blood lactic acid \- Increased CSF pyruvic acid \- Increased CSF lactic acid \- Increased blood alanine \- Increased blood ammonia \- Increased urinary lactate \- Increased urinary pyruvate \- Decreased activity of the pyruvate dehydrogenase complex (highly variable, 1-70% of controls) \- Decreased activity of pyruvate decarboxylase (E1 component) MISCELLANEOUS \- Onset in infancy or early childhood \- Highly variable phenotype \- Two main phenotypes, metabolic and neurologic \- 35% of patients have facial dysmorphism \- A subset of patients improve with thiamine \- Severe infantile cases usually die by 6 months \- Females demonstrate lyonization with corresponding phenotypic variation MOLECULAR BASIS \- Caused by mutation in the E1-alpha subunit of the pyruvate dehydrogenase complex (PDHA1, 300502.0001 ) ▲ 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	PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY	c0034345	29,383	omim	https://www.omim.org/entry/312170	2019-09-22T16:17:21	{"doid": ["3649"], "mesh": ["D015325"], "omim": ["312170"], "orphanet": ["765", "79243"], "synonyms": ["Alternative titles", "PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY", "PYRUVATE DECARBOXYLASE DEFICIENCY", "ATAXIA, INTERMITTENT, WITH ABNORMAL PYRUVATE METABOLISM", "PDH DEFICIENCY", "ATAXIA, INTERMITTENT, WITH PYRUVATE DEHYDROGENASE DEFICIENCY", "ATAXIA WITH LACTIC ACIDOSIS I"]}
For a phenotypic description and a discussion of genetic heterogeneity of Parkinson disease (PD), see 168600. Mapping Li et al. (2002) performed a genomic screen for age at onset (AAO) of Parkinson disease (168600), studying 174 families. Heritabilities between 40% and 60% were found. Significant evidence was found for linkage of AAO in Parkinson disease on 1p (lod = 3.41). Using 781 microsatellite markers, Hicks et al. (2002) performed a genomewide scan on 117 Icelandic patients with classic late-onset Parkinson disease (mean age of onset 65.8 years) and 168 of their unaffected relatives from 51 families. They found linkage to chromosome 1p32, and further analysis yielded a lod score of 4.9 near marker D1S2652 within a 7.6-cM segment. The authors designated this locus PARK10. By SNP analysis of 267 families with PD, 83 of whom were positively linked to chromosome 1p, Oliveira et al. (2005) identified 2 genes that were significantly associated with age at disease onset: EIF2B3 (606273) and USP24 (610569). P values for SNPs within these genes ranged from 0.007 to 0.0003 depending on the analysis used, with EIF2B showing stronger results. In addition, several SNPs in the HIVEP3 gene (606649) were associated with risk of development of PD (p = 0.002). Maraganore et al. (2005) performed a 2-tiered, genomewide association study of PD including 443 sib pairs discordant for PD and 332 case-unrelated control pairs. Among 11 SNPs that were borderline significant in both tiers (p less than 0.05), 2 SNPs (rs682705 and rs7520966) tagged the PARK10 locus and were located within the CDCP2 gene (612320). These SNPs yielded significant association with PD (p values of 9.07 x 10(-6) and 2.96 x 10(-5) with odds ratios of 0.66 and 0.67, respectively). Farrer et al. (2006) found no association between PD and SNPs in the CDCP2 gene among a total of 1,570 patients from 3 cohorts of Norwegian, Irish, and American populations. Farrer et al. (2006) stated that the findings of Maraganore et al. (2005) may be spurious. Goris et al. (2006) also found no association between PD and any of the candidate SNPs identified by Maraganore et al. (2005) among 538 patients with PD. By examining CDCP2 SNPs in an expanded PD family dataset (293 multiplex and 467 singleton families) and a discordant sib-pair dataset, Li et al. (2007) found no significant association of CDCP2 with PD. They noted that the results confirmed previous negative findings for CDCP2 as a candidate PARK10 gene. By SNP analysis of 266 multiplex PD families with additional genotyping in 377 singleton PD families, Noureddine et al. (2005) found a significant association between AAO in PD and 2 SNPs in the ELAVL4 gene (168360) on chromosome 1p34: rs967582 and rs2494876 (p = 0.006 and p = 0.035, respectively, after Bonferroni correction). Several haplotypes defined by these and additional SNPs in the gene were also found to be associated with AAO. Noureddine et al. (2005) concluded that there may be a potential role for ELAVL4 as a modifier gene for AAO of PD. Haugarvoll et al. (2007) observed a significant association between susceptibility to PD and 2 SNPs in the ELAVL4 gene (rs967582 and rs3902720) among 372 Irish patients with PD. However, the data did not show an association with age at onset in this group. There was also no association between AAO or susceptibility to PD in cohorts of patients from Norway or the United States. Haugarvoll et al. (2007) suggested that the findings among the Irish may be due to a Scandinavian/Celtic founder effect. Among 712 Caucasian PD patients and 312 controls, DeStefano et al. (2008) found that the minor C allele of rs967582 in the ELAVL4 gene was associated with increased risk of PD, yielding an odds ratio of 1.46 and p value of 0.011. However, the p value became 0.0999 after conservative Bonferroni correction. No association was observed for age at onset. Haugarvoll et al. (2009) genotyped SNPs across the PARK10 locus in 180 PD patients and 180 controls from central Norway, followed by candidate SNP genotyping of 186 PD patients and 186 controls from Ireland, and further SNP analysis of an extended series comprising 530 Norwegian PD patients and 1,142 controls, and 221 Irish and US PD patients and 221 controls. After correction for multiple testing, an association was found between PD and markers within the USP24 gene (combined OR of 0.78, p = 0.0007 at rs13312; OR of 0.80, p = 0.0013 at rs487230). Independently, the association for rs13312 was strongest in the extended Norwegian series (OR 0.76, p = 0.005), although this was not significant after correction for multiple testing. No marker showed consistent association with age at onset. The data suggested that genetic variability in USP24 may be associated with PD. No significant association was observed with SNPs in the HIVEP3, EIF2B3, or ELAVL4 genes. Wan et al. (2014) concluded that common variation in the PARK10 region on chromosome 1p32 is not associated with risk of Parkinson disease. Analysis of data from a large GWA study of 2,000 cases and 1,986 controls yielded data suggestive of an association with SNPs in the DAB1 gene (603448), but these results were not validated in a replication stage involving a total of 2,113 cases and 2,095 controls. In addition, metaanalyses across all datasets did not identify any genes within the PARK10 locus that showed association with disease susceptibility. [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	PARKINSON DISEASE 10	c1847360	29,384	omim	https://www.omim.org/entry/606852	2019-09-22T16:09:56	{"mesh": ["C564653"], "omim": ["606852"], "orphanet": ["2828"], "synonyms": ["Early-onset Parkinson disease", "PARKINSON DISEASE, AGE AT ONSET OF", "Alternative titles", "YOPD"]}
A number sign (#) is used with this entry because early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) is caused by homozygous or compound heterozygous mutation in the MEGF10 gene (612453) on chromosome 5q23. Description EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012). Clinical Features Hartley et al. (2007) reported 2 unrelated but consanguineous families from Qatar and Sri Lanka, respectively, in which 2 sibs in each family had a severe congenital myopathy particularly affecting the diaphragm. The older daughter in the first family was born full term after a pregnancy complicated by decreased fetal movements and growth retardation. She had poor respiratory effort necessitating resuscitation at birth, and she became ventilator-dependent at age 18 months. Chest radiograph showed paralysis of the right hemidiaphragm. She also had poor feeding, necessitating a feeding tube. She could walk with assistance at age 18 months. Other features included narrow bifrontal diameter, facial weakness, long fingers with finger flexor tightness, thin muscles, and areflexia. Cognitive development was normal. She later developed scoliosis and died at age 9 years following a respiratory infection. Her 30-month-old sister showed respiratory distress at age 1 week as well as feeding difficulties resulting in failure to thrive. She became ventilator-dependent at age 7 months, and was able to sit up, but did not achieve any additional motor skills. Muscle weakness was more marked in the upper limbs and distally. She had cleft palate, hypotonia, thin musculature, pectus excavatum, facial weakness, narrow bifrontal diameter, and areflexia. EMG studies in both girls showed a myopathic pattern and muscle biopsies showed minimal fiber size variability without inclusions. In the second family, both sibs presented at birth with hypotonia and poor feeding, and developed respiratory failure at age 5 months necessitating ventilation. Both also were fed by gastrostomy. One child was able to walk at age 3 years. The other developed an encephalopathy with subsequent global developmental delay after respiratory arrest and brain hypoxia/ischemia. Both had contractures of the finger flexors and equinovarus positions of the feet, scoliosis, bulbar weakness, and well-controlled seizures. Genetic analysis excluded mutations in the IGHMBP2 gene (600502). Logan et al. (2011) reported 7 patients from 5 families with EMARDD. Two of the families had previously been reported by Hartley et al. (2007). All patients presented at birth or early in infancy with respiratory distress caused by diaphragmatic paralysis. All affected subjects became ventilator-dependent, and all had dysphagia, which necessitated gastrostomy feeding in some. All had severe muscular hypotonia and weakness, more prominent in the upper limbs and in the distal muscles, and areflexia. Other more variable features included high-arched palate or cleft palate, contractures of the fingers, and pes equinovarus. Electromyography showed myopathic changes, and nerve conduction velocities were normal. Skeletal muscle biopsies showed small and incompletely fused muscle fibers and sparsely nucleated syncytia. The findings were consistent with reduced myoblast and satellite cell proliferation. ### Clinical Variability Boyden et al. (2012) reported a nonconsanguineous Caucasian family of mixed European ancestry in which 3 sisters had a congenital myopathy. All presented with generalized weakness by 12 months of age, initially in the neck and later mainly involving the proximal, axial, and facial muscles. All had contractures of the neck in infancy with later development of contractures of other joints and severe scoliosis; reflexes were mostly absent. There was also respiratory involvement, and all needed assisted ventilation at night. One had a cleft palate and another had a midline ridge of the palate; all had hypernasal speech. Two had dysphagia with pills, and 1 had acid reflux. All were alive in their mid-twenties. Serum creatine kinase was mildly increased. Muscle biopsy showed fatty replacement of myofibers, increased connective tissue, and isolated regenerating fibers, similar to muscular dystrophy. However, there were also moth-eaten fibers and minicores, suggestive of a congenital myopathy. There was a slight predominance of type I fibers, which showed more size variability than type II fibers. An unrelated girl of distant Portuguese ancestry had a diagnosis of multiminicore disease. She presented in infancy with weak neck and floppy head, high-arched palate, and failure to thrive as a result of poor feeding. She also had blue-tinged sclera and hyperflexible joints. She later showed mainly proximal weakness and developed scoliosis. Although she had recurrent pulmonary infections, breathing was normal. Muscle biopsy showed marked fiber size variation, internalized nuclei, and increased endomysial connective tissue, as well as prominent patches of decreased NADH activity within myofibers, consistent with moth-eaten fibers or minicores. Electron microscopy showed focal areas of Z-band disarray with absent mitochondria. Inheritance The transmission pattern of EMARDD in the families reported by Hartley et al. (2007) and Logan et al. (2011) was consistent with autosomal recessive inheritance. Molecular Genetics In 7 patients from 5 families with EMARDD, Logan et al. (2011) identified homozygous or compound heterozygous mutations in the MEGF10 gene (612453.0001-612453.0006). All but 1 of the mutations were truncating, resulting in loss of protein function. In 3 sisters with a milder variant of EMARDD, characterized by congenital myopathy, scoliosis, and respiratory impairment, Boyden et al. (2012) identified compound heterozygosity for 2 missense mutations in the MEGF10 gene (C326R, 612453.0007 and C774R, 612453.0006). The mutations were found by whole genome sequencing. Screening of this gene in 272 additional patients with unexplained myopathy found 1 who was heterozygous for a missense mutation (R71W; 612453.0008) that was inherited from an unaffected parent; however, a second pathogenic mutation could not be identified in the patient. Boyden et al. (2012) suggested that the milder phenotype in their patients compared to the patients reported by Logan et al. (2011) may be due to some residual MEGF10 function from missense mutations, as opposed to the frameshift or truncating mutations identified in the latter patients. Given the role of mouse Megf10 in satellite cells (Holterman et al., 2007), Boyden et al. (2012) hypothesized that excessive differentiation of satellite cells in patients with MEGF10 mutations may deplete the population of self-renewing cells available to regenerate damaged muscle fibers. Animal Model Boyden et al. (2012) found that morpholino knockdown of the Megf10 gene in zebrafish resulted in abnormal phenotypes, including unhatched eggs, curved tails, impaired swimming and motility, and disorganized muscle tissues such as myofibrillary disorganization, abnormalities in somite shape, and decreased striation, all consistent with a myopathy. INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive HEAD & NECK Head \- Poor head control Face \- Facial weakness Mouth \- High-arched palate \- Cleft palate Neck \- Neck weakness \- Neck contractures RESPIRATORY \- Respiratory failure \- Restrictive lung disease \- Ventilator dependency (in some) CHEST External Features \- Pectus excavatum Diaphragm \- Diaphragmatic weakness \- Diaphragmatic paralysis \- Eventration of diaphragm ABDOMEN Gastrointestinal \- Dysphagia SKELETAL \- Contractures Spine \- Scoliosis Hands \- Finger contractures Feet \- Pes equinovarus MUSCLE, SOFT TISSUES \- Hypotonia, neonatal \- Weakness, axial and limb muscles, upper limb muscles more affected than lower limbs \- Myopathic changes seen on EMG of affected muscle \- Small and incompletely fused muscle fibers seen on biopsy \- Variation in fiber size \- Fiber necrosis \- Fatty replacement \- Minicores (in some) \- Focal areas of Z-band disarray devoid of mitochondria seen on electron microscopy NEUROLOGIC Central Nervous System \- Delayed motor development \- Frequent falling \- Difficulty running \- Some may not achieve ambulation \- Seizures (less common) Peripheral Nervous System \- Hyporeflexia \- Areflexia VOICE \- Hypernasal voice PRENATAL MANIFESTATIONS Movement \- Decreased fetal movements MISCELLANEOUS \- Onset at birth \- Patients present at birth with respiratory distress or poor head control \- Death may occur in childhood due to respiratory failure \- Some patients may not achieve walking \- Variable severity MOLECULAR BASIS \- Caused by mutation in the multiple epidermal growth factor-like domains 10 gene (MEGF10, {612453.0001)} ▲ 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	MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET	c3280679	29,385	omim	https://www.omim.org/entry/614399	2019-09-22T15:55:24	{"doid": ["0111333"], "omim": ["614399"], "orphanet": ["439212"], "synonyms": ["EMARDD"]}
Congenital bile acid synthesis defect type 1 is a disorder characterized by cholestasis, a condition that impairs the production and release of a digestive fluid called bile from liver cells. Bile is used during digestion to absorb fats and fat-soluble vitamins, such as vitamins A, D, E, and K. People with congenital bile acid synthesis defect type 1 cannot produce (synthesize) bile acids, which are a component of bile that stimulate bile flow and help it absorb fats and fat-soluble vitamins. As a result, an abnormal form of bile is produced. The signs and symptoms of congenital bile acid synthesis defect type 1 often develop during the first weeks of life, but they can begin anytime from infancy into adulthood. Affected infants often have a failure to gain weight and grow at the expected rate (failure to thrive) and yellowing of the skin and eyes (jaundice) due to impaired bile flow and a buildup of partially formed bile. Excess fat in the feces (steatorrhea) is an additional feature of congenital bile acid synthesis defect type 1. As the condition progresses, affected individuals can develop liver abnormalities including an enlarged liver (hepatomegaly), inflammation, or chronic liver disease (cirrhosis). The spleen may also become enlarged (splenomegaly). The inability to absorb certain fat-soluble vitamins (vitamin D in particular) can result in softening and weakening of the bones (rickets) in some individuals. If left untreated, congenital bile acid synthesis defect type 1 often leads to cirrhosis and death in childhood. ## Frequency The prevalence of congenital bile acid synthesis defect type 1 is unknown; however, it is the most common of all the congenital defects of bile acid synthesis. Together, these conditions are thought to have a prevalence of 1 to 9 per million people. ## Causes Mutations in the HSD3B7 gene cause congenital bile acid synthesis defect type 1. The HSD3B7 gene provides instructions for making an enzyme called 3 beta-hydroxysteroid dehydrogenase type 7 (3β-HSD7). This enzyme is found in liver cells that produce bile acids. Bile acids are produced from cholesterol in a multi-step process. The 3β-HSD7 enzyme is responsible for the second step in that process, which converts 7alpha(α)-hydroxycholesterol to 7α-hydroxy-4-cholesten-3-one. HSD3B7 gene mutations result in a 3β-HSD7 enzyme with little or no function. Without enough functional 3β-HSD7 enzyme, the conversion of 7α-hydroxycholesterol to 7α-hydroxy-4-cholesten-3-one is impaired. The 7α-hydroxycholesterol instead gets converted into abnormal bile acid compounds that cannot be transported out of the liver into the intestine, where the bile acids are needed to digest fats. As a result, cholesterol and other fats build up in the liver and fat-soluble vitamins are not absorbed, which contribute to the signs and symptoms of congenital bile acid synthesis defect type 1. ### Learn more about the gene associated with Congenital bile acid synthesis defect type 1 * HSD3B7 ## 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	Congenital bile acid synthesis defect type 1	c1843116	29,386	medlineplus	https://medlineplus.gov/genetics/condition/congenital-bile-acid-synthesis-defect-type-1/	2021-01-27T08:25:30	{"gard": ["9813"], "mesh": ["C535442"], "omim": ["607765"], "synonyms": []}
O' Sullivan McLeod syndrome is a benign lower motor neuron disorder and a rare variant of monomelic amyotrophy (MA; see this term), characterized by an initial unilateral weakness in the intrinsic hand muscles that eventually spreads to the opposite limb (with an asymmetrical distribution) and that has a very slow progression of muscular atrophy over a 20 year period. [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	O'Sullivan-McLeod syndrome	c2721741	29,387	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99965	2021-01-23T17:51:44	{"umls": ["C2721741"], "icd-10": ["G12.8"]}
A number sign (#) is used with this entry because of evidence that congenital disorder of glycosylation with defective fucosylation-2 (CDGF2) is caused by homozygous or compound heterozygous mutation in the FCSK gene (608675) on chromosome 16q22. For a general phenotypic description and a discussion of genetic heterogeneity of CDGF, see 618005. Clinical Features Ng et al. (2018) reported 2 unrelated children, aged 6 and 7 years, with a severe multisystem disorder apparent from early infancy. One patient was born prematurely at 25 weeks' gestation. As infants, they had hypotonia, poor feeding necessitating tube feeding, and severely delayed psychomotor development. Both developed intractable seizures with epileptic encephalopathy; EEG in 1 patient showed hypsarrhythmia. Ocular features included maculopathy, visual impairment, cortical blindness, optic atrophy, strabismus, and nystagmus. Both patients had respiratory difficulty with frequent infections, as well as contractures. Both were nonambulatory and had severely impaired intellectual development. Brain imaging showed cerebellar and brainstem atrophy (pontocerebellar hypoplasia), hypoplasia or agenesis of the corpus callosum, and white matter abnormalities including periventricular leukomalacia, consistent with a destructive process. One patient had serum metabolic abnormalities of methylmalonic acid and B12 metabolism; serum transferrin analysis performed in this patient showed normal results. Inheritance The transmission pattern of CDGF2 in the families reported by Ng et al. (2018) was consistent with autosomal recessive inheritance. Molecular Genetics In 2 unrelated patients with CDGF2, Ng et al. (2018) identified homozygous or compound heterozygous missense mutations in the FUK gene (608675.0001-608675.0003). The mutations, which were found by whole-exome sequencing, segregated with the disorder in the families. Immunoblot analysis of cells derived from patient 1 showed a 60 to 80% reduction in FUK levels and severely decreased FUK activity compared to controls, which could be rescued by wildtype FUK. Cell lines were not available from patient 2. The findings were consistent with a loss of function. INHERITANCE \- Autosomal recessive HEAD & NECK Eyes \- Visual impairment \- Maculopathy \- Optic atrophy \- Cortical blindness \- Nystagmus \- Strabismus RESPIRATORY \- Respiratory insufficiency ABDOMEN Gastrointestinal \- Poor feeding \- Gastroesophageal reflux \- Motility problems \- Tube feeding SKELETAL \- Contractures MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Global developmental delay \- Impaired intellectual development, severe \- Epileptic encephalopathy \- Seizures, intractable \- Inability to walk \- Peripheral spasticity \- Cerebellar atrophy seen on brain imaging \- Abnormal myelination \- Brainstem hypoplasia \- Dysplastic or hypoplastic corpus callosum MISCELLANEOUS \- Onset at birth \- Two unrelated patients have been reported (last curated February 2019) MOLECULAR BASIS \- Caused by mutation in the fucose kinase gene (FCSK, 608675.0001 ) ▲ 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 2	None	29,388	omim	https://www.omim.org/entry/618324	2019-09-22T15:42:29	{"omim": ["618324"]}
Sphincter paralysis is paralysis of one of the body's many sphincters, preventing it from constricting normally. Case studies have shown patients may remain continent for many years despite being affected by anal sphincter paralysis.[1] ## See also[edit] * Rectal prolapse ## References[edit] 1. ^ Wakeman, R.; Allen-Mersh, T. G. (1989). "Puborectalis and external anal sphincter paralysis with preservation of fecal continence". Diseases of the Colon & Rectum. 32 (11): 980–1. doi:10.1007/BF02552277. PMID 2806028. 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	Sphincter paralysis	None	29,389	wikipedia	https://en.wikipedia.org/wiki/Sphincter_paralysis	2021-01-18T19:02:41	{"wikidata": ["Q7576762"]}
Taylor et al. (1981) studied 2 families, each ascertained through a young man with aggressive duodenal ulcer associated with basal and postprandial hypergastrinemia, hyperpepsinogenemia I, and basal and pentagastrin-stimulated hyperchlorhydria. All characteristics returned to normal after antrectomy and vagotomy. Antral gastrin concentrations and G-cell counts were normal, indicating hyperfunction rather than hyperplasia of G-cells. Of 10 first-degree relatives, 4 shared with the probands the combination of postprandial hypergastrinemia and hyperpepsinogenemia I. This form of ulcer disease appears to be distinct from that associated with hyperpepsinogenemia I and a normal serum gastrin response to food (126850). Lab \- Basal and postprandial hypergastrinemia \- Hyperpepsinogenemia I \- Basal and pentagastrin-stimulated hyperchlorhydria GI \- Duodenal ulcer \- Antral G-cell hyperfunction 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	DUODENAL ULCER DUE TO ANTRAL G-CELL HYPERFUNCTION	c1852009	29,390	omim	https://www.omim.org/entry/126840	2019-09-22T16:42:17	{"mesh": ["C535721"], "omim": ["126840"]}
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome is a rare mitochondrial disease with marked clinical variability typically characterized by encephalomyopathy, kidney disease (nephrotic syndrome), optic atrophy, early-onset deafness, pancytopenia, obesity, and cardiac disease (valvulopathy). Additionally, macrocephaly, intellectual disability, hyperlactatemia, elevated lactate/pyruvate ratio, insulin-dependent diabetes, livedo reticularis, liver dysfunction and seizures have also been associated. [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	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	c3553354	29,391	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=254898	2021-01-23T19:03:19	{"omim": ["614651"], "icd-10": ["E88.8"], "synonyms": ["Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"]}
A number sign (#) is used with this entry because of evidence that X-linked female-limited myopia-26 (MYP26) is caused by mutation in the ARR3 gene (301770) on chromosome Xq13. Description X-linked myopia-26 is characterized by female-limited early-onset high myopia. The fundus of affected individuals shows a tigroid appearance, and there is a temporal crescent of the optic nerve head (Xiao et al., 2016). For a discussion of genetic heterogeneity of myopia, see 160700. Clinical Features Xiao et al. (2016) reported 3 large Chinese families (XF1, XF2, and XF3) in which early-onset high myopia was limited to female family members. The authors defined the phenotype as axial length greater than 26.00 mm, or spherical refraction in each meridian equal to or greater than -6.00 diopter in both eyes that developed before the age of 7 years, without other known ocular or related systemic disease. All affected female family members had significant nearsightedness in early childhood. Fundus examination revealed the typical tigroid appearance in the posterior retina of early-onset high myopia, as well as a temporal crescent of the optic nerve head. Mapping In a large 6-generation Chinese family (XF1) with female-limited early-onset high myopia, Xiao et al. (2016) performed genomewide linkage analysis and found linkage suggesting a candidate locus on Xp11.1-q13.3, with a lod score of 3.01 at DXS986. Molecular Genetics In a large 6-generation Chinese family (XF1) with female-limited early-onset high myopia mapping to chromosome Xp11.1-q13.3, Xiao et al. (2016) performed whole-exome sequencing and identified heterozygosity for a missense mutation in the ARR3 gene (A298D; 301770.0001), located within the linkage interval. In 2 more Chinese families with an identical phenotype, whole-exome sequencing also revealed heterozygosity for mutations in the ARR3 gene: a nonsense mutation (R100X; 301770.0002) in 1 family (XF2) and a missense mutation (L80P; 301770.0003) in the other family (XF3). The mutations were confirmed by Sanger sequencing, segregated fully with disease in each of the families, and were not found in 192 controls or in public variant databases. Analysis of the whole-exome data did not identify mutations in other high myopia- or retinal disease-associated genes. Hemizygous and obligate carrier males, identified in families XF1 and XF3, were unaffected. INHERITANCE \- X-linked (female limited) HEAD & NECK Eyes \- Severe nearsightedness in early childhood \- Spherical refraction equal to or greater than -6.00 in each meridian \- Axial length greater than 26.00 mm \- Tigroid appearance of posterior retina \- Temporal crescent of optic nerve head MISCELLANEOUS \- Onset before 7 years of age \- Phenotype is female-limited (hemizygous males are unaffected) MOLECULAR BASIS \- Caused by mutation in the retinal arrestin-3 gene (ARR3, 301770.0001 ) ▲ 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	MYOPIA 26, X-LINKED, FEMALE-LIMITED	c4538795	29,392	omim	https://www.omim.org/entry/301010	2019-09-22T16:18:59	{"omim": ["301010"]}
A rare acquired neutropenia characterized by isolated neutropenia in a newborn due to maternal alloimmunization against human neutrophil antigens (HNA) inherited from the father and present on fetal neutrophils, and subsequent increased breakdown of the latter. The condition is self-limiting and resolves after several weeks. It usually presents with only mild bacterial infections or may even be asymptomatic, although severe forms with sepsis and fatal outcome have also 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	Neonatal alloimmune neutropenia	None	29,393	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=464370	2021-01-23T18:18:52	{"icd-10": ["P61.5"]}
Retinal dysplasia is an eye disease affecting the retina of animals and, less commonly, humans. It is usually a nonprogressive disease and can be caused by viral infections, drugs, vitamin A deficiency, or genetic defects. Retinal dysplasia is characterized by folds or rosettes (round clumps) of the retinal tissue. ## Contents * 1 Retinal dysplasia in dogs * 1.1 Commonly affected breeds * 2 Retinal dysplasia in other animals * 3 See also * 4 References ## Retinal dysplasia in dogs[edit] Most cases of retinal dysplasia in dogs are hereditary. It can involve one or both retinas. Retinal dysplasia can be focal, multifocal, geographic, or accompanied by retinal detachment. Focal and multifocal retinal dysplasia appears as streaks and dots in the central retina. Geographic retinal dysplasia appears as an irregular or horseshoe-shaped area of mixed hyper or hyporeflectivity in the central retina. Retinal detachment occurs with complete retinal dysplasia, and is accompanied by blindness in that eye. Cataracts or glaucoma can also occur secondary to retinal dysplasia. Other causes of retinal dysplasia in dogs include infection with canine adenovirus or canine herpesvirus, or radiation of the eye in newborns. ### Commonly affected breeds[edit] * Bedlington Terrier \- complete retinal dysplasia. * Sealyham Terrier \- complete retinal dysplasia. * Rottweiler \- focal or multifocal. * English Springer Spaniel \- focal, multifocal, or geographic. * American Cocker Spaniel \- focal or multifocal. * Beagle \- focal or multifocal. * Cavalier King Charles Spaniel \- retinal folds, geographic, or retinal detachment. * Labrador Retriever \- focal, multifocal, geographic, or complete retinal dysplasia. It can also be seen in combination with a congenital skeletal disorder. * Australian Shepherd \- retinal dysplasia occurs with other eye disorders, such as an oval pupil, microcornea (small cornea), cataracts, and retinal detachment.[1] ## Retinal dysplasia in other animals[edit] * Cats \- Retinal dysplasia occurs in utero or in newborns infected with feline leukemia virus or feline panleukopenia, which cause necrosis and disorganization of the retina. It appears as folds and rosettes. * Cattle \- Retinal dysplasia occurs in utero through infection with bovine viral diarrhea. It is also inherited in Shorthorns and Herefords. Both forms often cause retinal detachment. * Sheep \- Retinal dysplasia occurs by in utero infection with bluetongue disease. * Horses \- Retinal dysplasia is bilateral, not inherited, and appears as multifocal or geographic disease. It is usually accompanied by other eye problems. * Chickens[1] ## See also[edit] * Progressive retinal atrophy ## References[edit] 1. ^ a b Gelatt, Kirk N. (ed.) (1999). Veterinary Ophthalmology (3rd ed.). Lippincott, Williams & Wilkins. ISBN 0-683-30076-8.CS1 maint: extra text: authors list (link) [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 dysplasia	c0035313	29,394	wikipedia	https://en.wikipedia.org/wiki/Retinal_dysplasia	2021-01-18T18:50:34	{"mesh": ["D015792"], "umls": ["C0035313"], "wikidata": ["Q7316763"]}
Heart condition 12-lead ECG of ventricular fibrillation Primary ventricular fibrillation (PVF) is an unpredictable [1] and potentially fatal arrhythmia occurring during the acute phase of a myocardial infarction leading to immediate collapse and, if left untreated, leads to sudden cardiac death within minutes. In developed countries, PVF is a leading cause of death.[2] Worldwide, the annual number of deaths caused by PVF is comparable to the number of deaths caused by road traffic accidents.[3] A substantial portion of these deaths could be avoided by seeking immediate medical attention when symptoms are noticed.[2] ## Contents * 1 Risk factors * 2 Diagnosis * 2.1 Definition * 3 Prognosis * 3.1 Survival * 4 Incidence * 5 References ## Risk factors[edit] The risk of PVF during acute myocardial infarction is related to the amount of ST elevation, the presence of hypokalemia, the absence of pre-infarction angina, the size of the infarction, and the presence of a blocked left coronary artery. Other risk factors could include younger age, male gender, and history of sudden cardiac death in first degree relatives.[1] ## Diagnosis[edit] ### Definition[edit] PVF is defined as ventricular fibrillation not preceded by heart failure or shock, in contrast to secondary ventricular fibrillation, which is. ## Prognosis[edit] After return of heart function, there has been a moderately higher risk of death in the hospital when compared to MI patients without PVF. Whether this still holds true with the recent changes in treatment strategies of earlier hospital admission and immediate angioplasty with thrombus removal is unknown. PVF does not affect the long-term prognosis.[4][5][6][7] ### Survival[edit] The survival of PVF largely depends on the promptness of defibrillation. The success rate of prompt defibrillation during monitoring is currently higher than 95%.[8] It is estimated that the success rate decreases by 10% for each additional minute of delay.[citation needed] ## Incidence[edit] Approximately 10% of all myocardial infarctions lead to PVF.[2] The incidence peaks between 20 and 50 minutes after the start of the MI. 2/3 of events occur before medical attendance, and of these medically unattended events, 2/3 occur after more than 30 minutes of warning symptoms.[2] ## References[edit] 1. ^ a b Gheeraert PJ, De Buyzere ML, Taeymans YM, Gillebert TC, Henriques JP, De Backer G, De Bacquer D (2006). "Risk factors for primary ventricular fibrillation during acute myocardial infarction: a systematic review and meta-analysis". Eur Heart J. 27 (21): 2499–510. doi:10.1093/eurheartj/ehl218. PMID 16952926. 2. ^ a b c d "primaryventricularfibrillation.com". Archived from the original on 2010-11-20. Retrieved 2020-05-11. 3. ^ Mathers CD, Loncar D (2006). "Projections of global mortality and burden of disease from 2002 to 2030". PLoS Med. 3 (11): e442. doi:10.1371/journal.pmed.0030442. PMC 1664601. PMID 17132052. 4. ^ Behar S, Goldbourt U, Reicher-Reiss H, Kaplinsky E (1990). "Prognosis of acute myocardial infarction complicated by primary ventricular fibrillation. Principal Investigators of the SPRINT Study". Am J Cardiol. 66 (17): 1208–11. doi:10.1016/0002-9149(90)91101-B. PMID 2239724. 5. ^ Volpi A, Cavalli A, Franzosi MG, Maggioni A, Mauri F, Santoro E, Tognoni G (1989). "One-year prognosis of primary ventricular fibrillation complicating acute myocardial infarction. The GISSI (Gruppo Italiano per lo Studio della Streptochinasi nell'Infarto miocardico) investigators". Am J Cardiol. 63 (17): 1174–8. doi:10.1016/0002-9149(89)90174-4. PMID 2565684. 6. ^ Nicod P, Gilpin E, Dittrich H, Wright M, Engler R, Rittlemeyer J, Henning H, Ross J (1988). ". Late clinical outcome in patients with early ventricular fibrillation after myocardial infarction". J Am Coll Cardiol. 11 (3): 464–470. doi:10.1016/0735-1097(88)91518-5. PMID 3343451. 7. ^ de Jong JS, Wilde AA, Henriques JP, Dekker LR (2006). "Long Term Survival after First Myocardial Infarction is not Determined by the Occurrence of Ventricular Fibrillation in the Acute Phase but Family History for Sudden Death is Detrimental". Circulation. 114. II: Abstract. 8. ^ Volpi A, Cavalli A, Santoro L, Negri E (1998). "Incidence and prognosis of early primary ventricular fibrillation in acute myocardial infarction--results of the Gruppo Italiano per lo Studio della Sopravvivenza nell'Infarto Miocardico (GISSI-2) database". Am J Cardiol. 82 (3): 265–71. doi:10.1016/S0002-9149(98)00336-1. PMID 9708651. [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 ventricular fibrillation	None	29,395	wikipedia	https://en.wikipedia.org/wiki/Primary_ventricular_fibrillation	2021-01-18T18:47:13	{"wikidata": ["Q7243186"]}
Cold autoimmune hemolytic anemia comprises two types of autoimmune hemolytic anemia (AIHA; see this term) defined by the presence of cold autoantibodies (autoantibodies which are active at temperatures below 30°C): cold agglutinin disease (CAD), which is the more common, and paroxysmal cold hemoglobinuria (PCH; see these terms). ## Clinical description CAD is more common in people over the age of 55 years, while PCH typically presents in young children. ## Etiology CAD is caused by IgM autoantibodies while PCH is caused by an IgG immunoglobulin. [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 hemolytic anemia, cold type	c0175816	29,396	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228312	2021-01-23T19:01:04	{"mesh": ["D000744"], "umls": ["C0175816"], "icd-10": ["D59.1"], "synonyms": ["Cold AIHA", "cAHA", "cAIHA"]}
## Summary ### Clinical characteristics. Primary hyperoxaluria type 2 (PH2), caused by deficiency of the enzyme glyoxylate reductase/hydroxypyruvate reductase (GR/HPR), is characterized by recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), and end-stage renal disease (ESRD). After ESRD, oxalosis (widespread tissue deposition of calcium oxalate) usually develops. Symptom onset is typically in childhood. ### Diagnosis/testing. The diagnosis of PH2 is established in a proband by identification of biallelic pathogenic variants in GRHPR by molecular genetic testing. If no pathogenic variants or only one pathogenic variant is identified by molecular genetic testing, identification of reduced glyoxylate reductase enzyme activity on liver biopsy can establish the diagnosis of PH2. ### Management. Treatment of manifestations: Reduction of urinary calcium oxalate supersaturation through adequate daily fluid intake and treatment with inhibitors of calcium oxalate crystallization (orthophosphate, potassium citrate, and magnesium); temporary intensive dialysis for ESRD, followed by transplantation. Surveillance: Biannual assessment of renal function, urinalysis with measurements of urine oxalate excretion (using 24-hour collection if easy to facilitate or spot urine oxalate to creatinine ratio), and calcium oxalate saturation if available, blood pressure, and full blood count including hematocrit; assessment of renal stone burden every six to 12 months by urinary tract imaging (renal ultrasound or CT); assessment of cardiac, skin, bone, joint, eye, thyroid, and hematologic involvement annually after progression to ESRD. Agents/circumstances to avoid: Dehydration. Ascorbate (vitamin C) ingestion and foods rich in oxalate (chocolate, rhubarb, and star fruit) may cause additional minimal increase in urinary oxalate levels in select individuals; excess should be discouraged; high salt (sodium) diet should be discouraged; excessive stone interventions with extracorporal shock wave lithotripsy. Evaluation of relatives at risk: For asymptomatic at-risk relatives offer urine analysis and, if indicated by the results of urine analysis, molecular genetic testing (if the pathogenic variants in the family are known) so that early diagnosis can inform treatment. ### Genetic counseling. PH2 is inherited in an autosomal recessive manner. Each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants in the family are known. ## Diagnosis ### Suggestive Findings Primary hyperoxaluria type 2 (PH2) should be suspected in individuals with the following clinical and laboratory features. Clinical features * Symptoms of nephrolithiasis (e.g., hematuria, renal colic, obstruction of the urinary tract) * Frequent recurrent nephrolithiasis * Nephrocalcinosis * End-stage renal disease with a history of nephrolithiasis Laboratory features * Kidney stone analysis. Kidney stones containing predominantly calcium oxalate * Increased urinary oxalate, typically greater than 0.7 mmol/1.73 m2/24h (normal <0.46 mmol/1.73 m2/24h). A 24-hour collection in acid is preferable to a random sample. * Increased urinary L-glycerate. This analyte may be detected on an organic acid screen, but there is considerable variability between methods and a specific method for glycerate is preferable. * Increased plasma oxalate. After the onset of renal failure, measurement of plasma oxalate concentration may be helpful. In contrast to the elevated plasma oxalate concentrations in persons with renal failure from other causes, plasma oxalate concentrations in individuals with primary hyperoxaluria with glomerular filtration rate lower than 20 mL/min/1.73 m2 often exceed 50 μmol/L. ### Establishing the Diagnosis The diagnosis of PH2 is established in a proband by identification of biallelic pathogenic variants in GRHPR by molecular genetic testing (see Table 1). If no pathogenic variants or only one pathogenic variant is identified by molecular genetic testing, identification of reduced glyoxylate reductase enzyme activity on a liver biopsy can establish the diagnosis of PH2. Molecular genetic testing approaches can include single-gene testing and use of a multigene panel: * Single-gene testing. Sequence analysis of GRHPR is performed first and may be followed by gene-targeted deletion/duplication analysis if only one or no pathogenic variant is found. * A multigene panel that includes GRHPR and other genes of interest (see Differential Diagnosis) may be considered. 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 Primary Hyperoxaluria Type 2 View in own window Gene 1Test MethodProportion of Probands with Pathogenic Variants 2 Detectable by This Method GRHPRSequence analysis 3>99% 4 Gene-targeted deletion/duplication analysis 5Unknown 6 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. 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\. Author, personal communication 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\. No data on detection rate of gene-targeted deletion/duplication analysis are available. Assay of glyoxylate reductase enzyme activity * The enzyme is primarily expressed in the liver [Cregeen et al 2003] and can be analyzed in liver tissue using the method described by Giafi and Rumsby [1998]. A needle biopsy (~20 mg of tissue) is required and the sample must be frozen immediately and shipped frozen to the laboratory. * Note: The enzyme has also been shown to be expressed in leukocytes [Knight et al 2006]; however, because of questions about the expression of the gene in leukocytes [Bhat et al 2005] and the low activity, measurement of enzyme activity in liver biopsy rather than leukocytes is recommended for diagnosis [Author, personal observation]. ## Clinical Characteristics ### Clinical Description The age of onset of primary hyperoxaluria type 2 (PH2) is typically in childhood [Milliner et al 2001, Johnson et al 2002], with those diagnosed in later life often relating symptoms from childhood [Rumsby et al 2001, Takayama et al 2007]. As in PH1, diagnosis is often delayed, sometimes even for years. Presenting symptoms are typically those associated with the presence of renal stones including hematuria, renal colic, or obstruction of the urinary tract [Johnson et al 2002]. Affected individuals may also present with nephrocalcinosis or end-stage renal disease (ESRD). The majority of individuals have renal stones composed of calcium oxalate [Milliner et al 2001, Johnson et al 2002]. Nephrocalcinosis, observed on ultrasound examination, abdominal x-ray, or CT examination, is a much less common finding in PH2 than in PH1. The disease can progress to ESRD although this outcome appears to be later in PH2 than in PH1, in which 50% of affected individuals have ESRD by age 25 years [Leumann & Hoppe 2001]. In a recent review of data collected through the OxalEurope Registry, of 83 individuals with PH2, 20% developed ESRD at follow up [S Hulton, personal communication]. Oxalosis. Once ESRD occurs, deposition of oxalate can occur in organs other than kidney, including bone, bone marrow, joints, retina, and myocardium [Wichmann et al 2003, Wachter et al 2006] along with calcified nodules on the fingers [Yamanouchi et al 2016]. Oxalate deposition in bone results in x-ray findings of transverse translucent symmetric bands with fixed sclerotic margins at the end of long bones followed by cystic rarefaction of the bones. Osteodystrophy causes bone pain and multiple pathologic fractures occur in advanced disease. Involvement of the bone marrow can result in anemia refractory to erythropoietin-stimulating agents. Additional clinical manifestations of oxalosis may include visual disturbance due to retinopathy and/or maculopathy, cardiac conduction disturbances such as heart block, cardiomyopathy, and synovitis secondary to oxalate deposition in the joints. Vascular involvement can lead to ischemia, most often manifest as non-healing cutaneous ulcers. Dental complications include periodontal disease. Hypothyroidism is also reported. ### Genotype-Phenotype Correlations The low prevalence of PH2 does not allow genotype-phenotype correlations at the present time. ### Nomenclature Primary hyperoxaluria type 2 was originally described as: * L-glyceric aciduria, referring to the excessive production of urinary L-glycerate; * D-glycerate dehydrogenase deficiency, referring to the non-physiologic action of the enzyme in catalyzing the dehydrogenation of D-glycerate. As the more important enzyme reaction appears to be that of glyoxylate reduction, the name glyoxylate reductase is now favored. ### Prevalence No data regarding the prevalence of PH2 exist. It is thought to be less common than primary hyperoxaluria type 1, which has a prevalence of approximately 1:1,000,000. However, there may be ascertainment bias in that individuals with early signs of PH2 may be misclassified clinically as having PH1 on the grounds of severity of symptoms, and the correct diagnosis recognized only with appropriate testing. ## Differential Diagnosis Primary hyperoxaluria type 1 (PH1) is the most common form of inherited hyperoxaluria, accounting for approximately 80% of cases. It is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or ESRD with a history of renal stones or oxalosis. Although the hyperoxaluria is present from birth and most individuals present in childhood or adolescence, age at symptom onset ranges from infancy to adulthood. Approximately 15% of affected individuals present before age four to six months with severe disease including nephrocalcinosis; 55% present in childhood or early adolescence with symptomatic nephrolithiasis; and the remainder present in adulthood with recurrent renal stones. Untreated PH1 often progresses to nephrolithiasis/nephrocalcinosis, decline in renal function, systemic oxalosis (widespread tissue deposition of calcium oxalate), and death from ESRD. Diagnosis relies on: (1) either (a) detection of increased urinary oxalate excretion (or elevated oxalate:creatinine ratio) or (b) in the setting of moderate to advanced renal failure, increased plasma oxalate concentration; and (2) deficiency of AGT catalytic activity from liver biopsy or molecular genetic testing of AGXT, the only gene known to be associated with PH1. Inheritance is autosomal recessive. Primary hyperoxaluria type 3 (PH3) has a phenotype similar to that of PH1 and PH2 and accounts for approximately 10% of cases of primary hyperoxaluria [Cochat & Rumsby 2013]. A provisional biochemical diagnosis can be made by the finding of elevated 4-hydroxy-2-oxoglutarate and dihydroxyglutarate in urine followed by confirmation with sequence analysis of HOGA1. Pathogenic variants in HOGA1 result in deficiency of mitochondrial 4-hydroxy-2-oxoglutarate aldolase, an enzyme that catalyzes one of the steps in the metabolism of hydroxyproline. The hyperoxaluria in individuals with PH3 arises from breakdown of the substrate for the enzyme rather than excessive production of glyoxylate. Inheritance is autosomal recessive. Other hereditable causes of kidney stones. Other heritable disorders that present with early stone formation include Dent disease, renal tubular acidosis, cystinuria (OMIM 220100), xanthinuria (OMIM 278300, 603592), and adenine phosphoribosyltransferase deficiency. In individuals presenting with symptoms related to renal stone disease it is essential to analyze the stone if possible as this can help to direct the clinician to a particular line of investigation. Urine should be analyzed for a stone risk profile that typically includes assessment of urine volume, oxalate, calcium, magnesium, citrate, phosphate, sodium, and urate. End-stage renal disease (ESRD). For persons presenting in ESRD, reliable measurement of urine oxalate excretion is not possible. Plasma oxalate elevations ranging up to 40 μmol/L may be detected with any form of ESRD; plasma oxalate concentrations exceeding 50 μmol/L are suggestive of primary hyperoxaluria. While PH1 and PH2 are a rare cause of ESRD in adults, PH can account for 0.7%-1.6% of ESRD in children. In a native kidney or renal allograft biopsy, PH should be considered if birefringent crystals are seen under polarized light. Although the measurement of plasma L-glycerate can identify individuals with PH2 who are in ESRD, such testing is not routinely available. Definitive diagnosis requires molecular genetic testing or analysis of relevant enzymes in a liver biopsy. Enteric hyperoxaluria. Disorders of the gastrointestinal tract leading to malabsorption (e.g., celiac disease, Crohn's disease, pancreatitis, short bowel syndrome) have the potential to increase oxalate absorption and lead to hyperoxaluria; they can usually be excluded based on history. Gastric bypass procedures have been associated with increased oxalate absorption, high levels of hyperoxaluria, and increased risk of kidney stone formation [Asplin & Coe 2007, Kleinman 2007, Duffey et al 2008, Lieske et al 2008]. Urinary risk factors for stones such as hyperoxaluria occur more commonly in individuals with Roux-en-Y gastric bypass than gastric banding [Semins et al 2010, Kumar et al 2011, Tasca 2011]. Dietary hyperoxaluria. Excess intake of foods high in oxalate including chocolate, cocoa, leafy greens (especially rhubarb and spinach), black tea, nuts, peanut butter, or starfruit may increase urinary concentration of oxalate. Between 24% and 53% of urinary oxalate is attributable to oxalate from the diet [Holmes & Assimos 2004]. Therapy consists of dietary oxalate restriction and use of calcium carbonate or calcium citrate at meal times to bind dietary oxalate [Penniston & Nakada 2009]. Megadoses of vitamin C (4 g/day) have led to hyperoxaluria [Nasr et al 2006], as has (deliberate or accidental) ingestion of ethylene glycol. ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with primary hyperoxaluria type 2 (PH2), the following evaluations, originally outlined for PH1, are recommended if they have not already been completed [Cochat et al 2012]: * Assessment of renal function * If moderate to advanced ESRD is present, assessment of systemic oxalate deposition in tissue and bone: * Bone x-rays to look for radiodense metaphyseal bands followed by cystic rarefaction of bones * Ophthalmic examination of the retina to look for oxalate crystals * Evaluation of cardiac function by echocardiography and ECG * Consultation with a clinical geneticist and/or genetic counselor ### Treatment of Manifestations Management follows general guidance for that of renal stones: to relieve obstruction, and to manage symptoms of renal impairment as they arise. #### Reduction of Calcium Oxalate Supersaturation As with PH1, conservative therapy is applied with the aim of minimizing oxalate-related renal injury and preserving renal function. Treatment of persons with preserved renal function, reviewed by Cochat et al [2012], essentially aims to improve oxalate solubility as follows: * Adequate fluid intake (>2.5 L/m2 surface area/day) * Urinary inhibitors of calcium oxalate crystallization: * Orthophosphate treatment (20-30 mg/kg body weight/day) * Potassium citrate (0.1-0.15 g/kg body weight/day) #### Dialysis Because the plasma oxalate concentration begins to rise when the renal clearance is less than 40 mL/min/1.73 m2, early initiation of dialysis or preemptive kidney-only transplantation is preferred. Oxalate clearance on hemodialysis is greater than on peritoneal dialysis (120 mls/min on hemodialysis vs 7 mls/min on peritoneal dialysis): standard hemodialysis programs will result in clearance of oxalate of 6-9 mmol/1.73 m2/week, which is equivalent to two to three days of endogenous production of oxalate. Thus a combination of modalities, with intermittent daily hemodialysis together with overnight peritoneal dialysis, or intense home hemodialysis, enhances the overall clearance of oxalate and attempts to reduce the rebound that occurs after hemodialysis. These combination therapies, with the use of high flux dialyzers or long episodes of hemofiltration, have all been advocated to improve oxalate removal [Hoppe et al 1996, Illies et al 2006]. For individuals in ESRD, intensive (daily) dialysis is required to maximize oxalate removal. As in PH1, the longer the individual with PH2 is on dialysis the more likely systemic oxalate deposition will occur. #### Organ Transplantation Kidney transplantation alone has been used in PH2 with varying success. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors, minimizes the risk of allograft loss as a result of oxalate deposition. As it is not unusual for such transplants to fail in individuals with PH2 and as there is more enzyme present in the liver than in other tissues [Cregeen et al 2003], combined liver-kidney transplant may have some merit. To date, there is just one published report of a successful liver-kidney transplantation in an individual with PH2 with a previously failed renal allograft [Dhondup et al 2018]. Urine glycerate and oxalate and plasma oxalate all normalized within one month post transplant and remained normal for the 13-month follow up. #### Other Pharmacologic doses of pyridoxine are used as a treatment in individuals with PH1 because of its role as a cofactor for the defective enzyme. There is no supportive evidence for the use of pyridoxine in individuals with PH2. ### Prevention of Primary Manifestations The main preventive treatment is to maintain adequate hydration status and to enhance calcium oxalate solubility with exogenous citrate and neutral phosphates as described in Treatment of Manifestations. ### Surveillance Frequency of recommended screening can vary; however, as a guide, the following are recommended. Individuals with preserved renal function (i.e., measured or estimated GFR ≥60 mL/min/1.73 m2) require the following to evaluate/ensure treatment efficacy: * Biannually. Assessment of renal function, urinalysis with measurements of urine oxalate excretion using 24-hour collection if easy to facilitate; or spot urine oxalate-to-creatinine ratio, and calcium oxalate saturation if available, blood pressure, and full blood count including hematocrit. The presence of blood in the urine may indicate stones, but protein in an early morning sample necessitates review of renal function as it may herald a decline in GRF. * Biannually to annually. Renal imaging (ultrasound or CT examination) to assess renal stone burden as appropriate. Note: Annual scans are appropriate if no stones or nephrocalcinosis are visualized. Individuals with a GFR <60 mL/min/1.73 m2 should have the above evaluations performed quarterly, as well as the following testing annually to evaluate for involvement of other organ systems apart from the renal tract. * Bone. X-ray examination to evaluate for the development of transverse translucent symmetric bands with fixed sclerotic margins at the end of long bones, cystic rarefaction of bones, and pathologic fractures. DEXA scanning may be considered every five years. MRI or CT scanning of bones may provide further information but are not routinely recommended at present. * Hematology. Full blood count with hematocrit for anemia; a bone marrow aspirate may rarely be required to determine if oxalate crystals in the bone marrow are contributing to an erythropoietin resistant anemia. * Eye. Ophthalmology examination with fundoscopy to evaluate for retinopathy and maculopathy * Cardiac. Electrocardiogram for cardiac conduction defects and echocardiogram to evaluate contractility if appropriate * Skin. Clinical examination for subungual deposits of oxalate and cutaneous ulcers as evidence of vasculopathy * Joints. Clinical examination for evidence of synovitis; arthroscopy may be considered on an individual basis. * Teeth. Dental examination for periodontal disease * Thyroid. Thyroid function tests including TSH and free T4 for hypothyroidism * Plasma oxalate. Measure every four to six months until GFR falls below 15 mL/min/1.73 m2 when levels will be noted to rise in keeping with renal impairment and may become more difficult to interpret. While on dialysis, measure plasma oxalate monthly to inform changes in dialysis prescription. ### Agents/Circumstances to Avoid The following should be avoided: * Dehydration * Excessive ascorbate (i.e. vitamin C; >1000 mg/day) * Foods rich in oxalate (chocolate, rhubarb, spinach, and star fruit in particular) * High salt (sodium) diet should be discouraged. * Excessive stone interventions with extracorporal shock wave lithotripsy ### Evaluation of Relatives at Risk In order to delay disease onset in asymptomatic relatives, it is prudent to evaluate at-risk family members before symptoms occur. Evaluations can include: * Molecular genetic testing if the pathogenic variants in the family are known; * Measurement of urinary oxalate excretion if the pathogenic variants in the family are not known. Molecular genetic testing tends to be more reliable as urine oxalate output can be variable in childhood. See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. ### Pregnancy Management For pregnant women with PH2, close monitoring by both an obstetrician and nephrologist is indicated because of the increased risk of decline in renal function together with developing nephrolithiasis during pregnancy or after delivery. See MotherToBaby for further information on medication use during pregnancy. ### Therapies Under Investigation Oxalobacter formigenes treatment did not demonstrate significant effect in reducing oxalate via gut excretion in individuals with PH1 but continues to undergo clinical trials in individuals with hyperoxaluria and impaired renal function [Hoppe et al 2017]. Other proposed trials include the use of inhibitors of glycolate oxidase (ALN-GO1) to reduce the amount of glyoxylate produced, although this treatment would be mainly relevant to treatment of individuals with PH1. Search ClinicalTrials.gov in the US and www.ClinicalTrialsRegister.eu in Europe for access to 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	Primary Hyperoxaluria Type 2	c0268165	29,397	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK2692/	2021-01-18T21:02:26	{"mesh": ["C536415"], "synonyms": ["Glyoxylate Reductase/Hydroxypyruvate Reductase Deficiency"]}
Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin. ## Epidemiology About 300 cases have been reported so far. Both genders seem equally affected. ## Clinical description In 90% of cases, the skin anomalies are observed at birth or shortly after birth, and may become more accentuated in the first few weeks. CMTC manifests with a localized or generalized reticulated, frequently asymmetrical, blue-violet colored vascular network in the skin. Skin changes may range from fine diffuse capillary anomalies without atrophy to atrophic or ulcerated larger purple reticulated bands. The cutaneous lesions most commonly occur on the legs, less commonly on the arms and trunk, and rarely involve the face and scalp. More than 50% of the CMTC patients present with associated cutaneous and/or extracutaneous anomalies (referred to as the macrocephaly-CMTC syndrome; see this term), most frequently body asymmetry (hypotrophy or hypertrophy of an involved extremity) and vascular lesions (capillary malformations). Other associated anomalies include neurological abnormalities (psychomotor retardation, seizures, and hypotonia), ocular anomalies (retinal detachment and congenital glaucoma; see this term), syndactyly, and macrocephaly. CMTC can also be associated with Adams-Oliver syndrome (see this term). ## Etiology The etiology remains unknown. ## Diagnostic methods Diagnosis is clinical. If the head is affected, ocular and neurological examination should be performed. Possible associated anomalies should be excluded by a careful clinical examination. Histopathologic findings are often nonspecific or show dilated capillaries and veins in the dermis. ## Differential diagnosis Differential diagnoses include Klippel-Trénaunay syndrome, Sturge-Weber syndrome, Bockenheimer syndrome, some port-wine stain capillary malformations, and macrocephaly-CMTC (see these terms). Persistence of skin changes with local warming distinguishes CMTC from physiological cutis marmorata. ## Genetic counseling CMTC occurs sporadically but a genetic basis has been proposed for some affected families. ## Management and treatment Treatment is usually not required. Laser therapy has been tried in several patients with persistent CMTC and variable outcomes have been reported. ## Prognosis Prognosis is generally good, with a tendency for clinical improvement during infancy or even complete resolution. [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	Cutis marmorata telangiectatica congenita	c0345419	29,398	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1556	2021-01-23T17:25:49	{"gard": ["6228"], "mesh": ["C536226"], "omim": ["219250"], "umls": ["C0345419"], "icd-10": ["Q82.8"], "synonyms": ["CMTC"]}
A very rare acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males. [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	Acrofacial dysostosis, Catania type	c2931762	29,399	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1786	2021-01-23T18:45:55	{"gard": ["494"], "mesh": ["C538182"], "omim": ["101805"], "umls": ["C2931762"], "icd-10": ["Q75.4"], "synonyms": ["Opitz-Caltabiano syndrome"]}

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