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Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth. ## Epidemiology The prevalence remains unknown. The male-to-female ratio is about 1.5:1 to 4:1. ## Clinical description Patients commonly present with severe chronic "obstructive" symptoms: abdominal pain, distension/fullness, nausea/vomiting, diarrhea and/or intractable constipation, malabsorption of nutrients leading to weight loss and/or failure to thrive. Laboratory abnormalities usually reflect the degree of malabsorption and malnutrition. The radiological findings commonly include paralytic ileus or signs of apparent clinical obstruction with dilated loops of bowel. The regions of the gut affected may be isolated (small bowel involvement is the most typical) or diffuse, and sometimes other visceral musculature, such as the urinary bladder, is involved. ## Etiology The etiology remains unknown. Disorganization or lack of smooth muscle contractility, resulting in disordered peristalsis or aperistalsis, represents the primary pathophysiological dysfunction. Certain authors divide CIPO into myopathic and neuropathic categories. CIPO may be a primary or secondary disorder due to muscular, neurologic, metabolic or endocrine disorders. It also occurs postinfectiously, postoperatively, or may be caused by abdominal radiation, drugs or noxae.. ## Diagnostic methods The clinical diagnosis should be confirmed by a combination of gastrointestinal manometric studies, transit time measurements, radiological findings (dilated bowel with air-fluid levels), and histological examination of a full-thickness biopsy of the affected intestine. If CIPO is suspected, mechanical obstruction must be carefully excluded by radiologic and endoscopic examinations. ## Management and treatment Management requires a multidisciplinary approach (pediatric gastroenterologist, pain management specialist, psychologist) and depends on the cause of the disorder, the extent and location of intestine involved, and the severity of symptoms. General measures include dietary changes (nutritional support to prevent malnutrition by oral and/or enteral nutrition), prokinetic agents (metoclopramide, cisapride), treatment of complications such as bacterial overgrowth and severe pain, and specific surgical procedures. The potential role of operative treatment of CIPO is controversial; unnecessary laparotomies should be strictly avoided as they may lead to adhesions and markedly complicate the clinical course. Surgery in CIPO is indicated for vascular access, intestinal biopsy, and palliation surgery, including total enterectomy, venting enterostomy, duodenojejunostomy, and duodenoplasty. Recently, intestinal transplantation has become a therapeutic option for children with severe refractory disease who are dependent on total parenteral nutrition (TNP), and in whom TPN management is failing. ## Prognosis CIPO is a severe, often unrecognized disease characterized by disabling and potentially life-threatening complications over time. Treatment and long-term outcome are often unsatisfactory. [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 inhibitors [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-aminobutyric 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	Chronic intestinal pseudoobstruction	c0238062	27,600	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2978	2021-01-23T17:47:59	{"gard": ["12744"], "omim": ["243180", "300048", "601223", "609629"], "umls": ["C0238062"], "icd-10": ["K59.8"], "synonyms": ["CIPO"]}
Chromosome 1p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) of chromosome 1. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 1p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitors [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-aminobutyric 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	Chromosome 1p duplication	c0795797	27,601	gard	https://rarediseases.info.nih.gov/diseases/10832/chromosome-1p-duplication	2021-01-18T18:01:23	{"synonyms": ["Duplication 1p", "Trisomy 1p", "1p duplication", "1p trisomy", "Partial trisomy 1p"]}
Cytochrome P450 oxidoreductase deficiency is a disorder of hormone production. This condition specifically affects steroid hormones, which are needed for normal development and reproduction. The hormonal changes associated with cytochrome P450 oxidoreductase deficiency can affect the development of the reproductive system, skeleton, and other parts of the body. These signs and symptoms are usually present at birth or become apparent in early childhood. The signs and symptoms of cytochrome P450 oxidoreductase deficiency vary from mild to severe. Signs and symptoms of mild cases can include a failure to begin menstruation by age 16 (primary amenorrhea), an inability to have biological children (infertility) in both men and women, and a condition called polycystic ovarian syndrome (PCOS). PCOS is characterized by a hormonal imbalance in women that can lead to irregular menstruation, acne, excess body hair (hirsutism), and weight gain. People with moderate cases of cytochrome P450 oxidoreductase deficiency may have external genitalia that do not look clearly male or female (ambiguous genitalia), and they may have infertility. People with moderate cytochrome P450 oxidoreductase deficiency usually do not have skeletal abnormalities. The severe form of cytochrome P450 oxidoreductase deficiency is sometimes called Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis. Hormonal changes in affected males and females lead to the development of ambiguous genitalia or other genital abnormalities, as well as infertility. Severe cases are also characterized by skeletal abnormalities, particularly involving bones of the head and face. These include premature fusion of the skull bones (craniosynostosis), a flattened mid-face, a prominent forehead, and low-set ears. Other skeletal abnormalities can include joint deformities (contractures) that limit movement; unusually long, slender fingers (arachnodactyly); bowing of the thigh bones; and radiohumeral synostosis, which is a bone abnormality that locks the elbows in a bent position. A blockage of the nasal passages (choanal atresia), intellectual disability, and delayed development are also associated with the severe form of the disorder. Some women who are pregnant with fetuses affected by cytochrome P450 oxidoreductase deficiency experience mild symptoms of the disorder even though they themselves do not have the disorder. They may develop excessive body hair growth (hirsutism), acne, and a deep voice. These changes go away soon after delivery. ## Frequency The prevalence of cytochrome P450 oxidoreductase deficiency is unknown. About 65 cases have been reported worldwide. Researchers suspect that cytochrome P450 oxidoreductase deficiency is underdiagnosed and that mild cases of this disorder may be relatively common. Because the signs and symptoms can be difficult to detect, people with mild cytochrome P450 oxidoreductase deficiency may never come to medical attention. ## Causes Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene. This gene provides instructions for making the enzyme cytochrome P450 oxidoreductase, which plays a critical role in the formation of steroid hormones. This group of hormones includes testosterone and estrogen, which are essential for normal sexual development and reproduction; corticosteroids, which are involved in the body's response to stress; and aldosterone, which helps regulate the body's salt and water balance. Mutations in the POR gene reduce the activity of cytochrome P450 oxidoreductase, which disrupts the production of steroid hormones. Changes in sex hormones such as testosterone and estrogen lead to problems with sexual development before birth and at puberty. In a woman who is pregnant with an affected fetus, abnormal levels of sex hormones in the fetus may cause her to have mild, temporary signs and symptoms of cytochrome P450 oxidoreductase deficiency. Cytochrome P450 oxidoreductase is also needed for the production of cholesterol. This substance has many essential functions both before and after birth, including roles in the production of steroid hormones and in the formation and growth of bones. Mutations in the POR gene can disrupt the production of cholesterol, which likely impairs normal bone formation in the severe form of cytochrome P450 oxidoreductase deficiency. Studies suggest that a molecule called retinoic acid also plays a role in the skeletal abnormalities found in severe cases. The breakdown of retinoic acid requires cytochrome P450 oxidoreductase; if a shortage of cytochrome P450 oxidoreductase prevents retinoic acid from being broken down, the resulting excess of that molecule can stimulate the abnormal growth and fusion of bones. The skeletal abnormalities found in the severe form of this disorder can also result from mutations in another gene, FGFR2. Some researchers use the name Antley-Bixler syndrome to describe these features, whether they are caused by mutations in the POR gene or in the FGFR2 gene. Others use the name Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis for cases caused by POR gene mutations, reserving the name Antley-Bixler syndrome for cases caused by FGFR2 gene mutations. ### Learn more about the gene associated with Cytochrome P450 oxidoreductase deficiency * POR ## 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 inhibitors [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-aminobutyric 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	Cytochrome P450 oxidoreductase deficiency	c3150099	27,602	medlineplus	https://medlineplus.gov/genetics/condition/cytochrome-p450-oxidoreductase-deficiency/	2021-01-27T08:24:37	{"gard": ["5826", "12664"], "omim": ["201750"], "synonyms": []}
A rare inherited connective tissue disorder characterized by skin hyperextensibility, widened atrophic scars, and generalized joint hypermobility. ## Epidemiology Worldwide prevalence is estimated at 1/20,000. ## Clinical description Skin hyperextensilibity, atrophic scarring, and generalized joint hypermobility are the hallmarks of classical Ehlers-Danlos syndrome (cEDS). However, the clinical picture variably involves multiple organ systems, and clinical presentation may occur anywhere between birth and childhood. In childhood, bruising, skin fragility, and abnormal scarring are common signs. Primary muscular hypotonia may occur and, alongside hypermobility, may delay motor development. Fatigue and muscle cramps are relatively frequent. Atrophic scarring is typically extensive, although a minority are more mildly affected. The skin is smooth and doughy. Other dermatologic features are molluscoid pseudotumors, subcutaneous spheroids, piezogenic papules, and defective wound healing. Inguinal/umbilical hernia, mitral valve prolapse, anal prolapse in childhood, cervical insufficiency, rectal and uterine prolapse are other signs of tissue fragility. Joint hypermobility may lead to joint instability, subluxation, dislocation temporomandibular joint dysfunction, joint effusions, foot deformities, osteoarthritis, and pain. In addition to scars, typical facial characteristics are blepharochalasis and epicanthal folds. Pregnancy bears risk for the newborn (prematurity and breech where the infant is affected) and for the mother (extensive episiotomy, tearing of the perineal skin, and prolapse of the uterus and/or the bladder after delivery). In patients with a COL1A1 mutation, there might be an increased at risk for vascular events (spontaneous dissection or rupture of medium-sized arteries). ## Etiology The disease is typically caused by mutations in COL5A1 or COL5A2 encoding type V collagen. In rare cases, cEDS is caused by p.(Arg312Cys) mutation in COL1A1, encoding type I collagen. ## Diagnostic methods The minimal criteria suggestive of cEDS are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility and/or at least three of the following minor criteria: easy bruising, soft/doughy skin, skin fragility, molluscoid pseudotumors, subcutaneous spheroids, hernia, epicanthal folds, complications of joint hypermobility, family history of a first degree relative who meets clinical criteria. Definitive diagnosis is reached by genetic testing that can include single-gene testing or use of a multigene panel. ## Differential diagnosis Differential diagnosis is extensive but primarily includes other EDS types (i.e., hypermobile, cardiac-valvular, classical-like type 1, classical-like type 2, spondylodysplastic, vascular, arthrocalasia, kyphoscoliotic, dermatosparaxis EDS), Loeys-Dietz syndromes, Marfan syndrome, cutis laxa, and other inherited connective tissue disorders. ## Antenatal diagnosis Once the pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic diagnosis are possible. ## Genetic counseling The pattern of inheritance is autosomal dominant and genetic counseling should be offered to affected families. The risk of disease transmission to offspring from an affected parent is 50%, intrafamilial phenotypic variability is observed. ## Management and treatment Treatment and management is symptomatic and preventative. Prevention includes avoidance of undue trauma and excessive stretching. Wounds should be expertly closed via sutures and patients should be known to their local plastic surgeons. A physiotherapeutic program is important in those with hypotonia and delayed motor development. Anti-inflammatory drugs may help with joint pain. Cardiac assessment including echocardiography to look for aortic root dilation and mitral valve prolapse is recommended. Emotional support and behavioral and psychological therapy may be indicated. Surveillance during pregnancy is warranted. ## Prognosis Life expectancy can be shortened due to the possibility of vessel rupture, but is otherwise not affected. Quality of life depends on the range of severity. [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 inhibitors [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-aminobutyric 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	Classical Ehlers-Danlos syndrome	c0220679	27,603	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=287	2021-01-23T18:26:54	{"gard": ["2088"], "mesh": ["C562424"], "omim": ["130000", "130010"], "umls": ["C0220679"], "icd-10": ["Q79.6"], "synonyms": ["Classical EDS", "cEDS"]}
Osteopathia striata Other namesVoorhoeve disease Osteopathia striata, is a rare entity characterized by fine linear striations about 2- to 3-mm-thick, visible by radiographic examination, in the metaphyses and diaphyses of long or flat bones.[1] It is often asymptomatic, and is often discovered incidentally. ## See also[edit] * List of radiographic findings associated with cutaneous conditions ## References[edit] 1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. * v * t * e Radiologic signs Cardiovascular * Aortic unfolding * Dense artery sign * Halo sign Respiratory * Air crescent sign * Deep sulcus sign * Golden S sign * Hampton hump * Kerley lines * Peribronchial cuffing * Sail sign of the chest * Silhouette sign * Steeple sign * Thumbprint sign * Traction bronchiectasis * Tree-in-bud sign * Westermark sign Urogenital * Canga's bead symptom Musculoskeletal * Crescent sign * Fabella sign * Fat pad sign/Sail sign of the elbow * Osteopathia striata Gastrointestinal * Cupola sign * Double bubble * Endoexoenteric * Football sign * Hampton's line * Hot quadrate sign * Mumoli's sign * Omental cake * Pneumatosis intestinalis * Rigler's sign * Sentinel loop Neurological * * Hyperdense middle cerebral artery This medical sign 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 inhibitors [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-aminobutyric 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	Osteopathia striata	c0265513	27,604	wikipedia	https://en.wikipedia.org/wiki/Osteopathia_striata	2021-01-18T18:36:31	{"umls": ["C0265513"], "wikidata": ["Q16919133"]}
BAP1 tumor predisposition syndrome is an inherited disorder that increases the risk of a variety of cancerous (malignant) and noncancerous (benign) tumors, most commonly certain types of tumors that occur in the skin, eyes, kidneys, and the tissue that lines the chest, abdomen, and the outer surface of the internal organs (the mesothelium). Affected individuals can develop one or more types of tumor, and affected members of the same family can have different types. Some people with BAP1 tumor predisposition syndrome develop growths in the skin known as atypical Spitz tumors. People with this syndrome may have more than one of these tumors, and they can have dozens. Atypical Spitz tumors are generally considered benign, although it is unclear if they can become cancerous. Skin cancers are also associated with BAP1 tumor predisposition syndrome, including cutaneous melanoma and basal cell carcinoma. A type of eye cancer called uveal melanoma is the most common cancerous tumor in BAP1 tumor predisposition syndrome. Although uveal melanoma does not usually cause any symptoms, some people with this type of cancer have blurred vision; small, moving dots (floaters) or flashes of light in their vision; headaches; or a visible dark spot on the eye. People with BAP1 tumor predisposition syndrome are at risk of developing malignant mesothelioma, which is cancer of the mesothelium. When associated with BAP1 tumor predisposition syndrome, malignant mesothelioma most often occurs in the membrane that lines the abdomen and covers the abdominal organs (the peritoneum). It less commonly occurs in the outer covering of the lungs (the pleura). A form of kidney cancer called clear cell renal cell carcinoma is also associated with the condition. Researchers are still determining whether other forms of cancer are linked to BAP1 tumor predisposition syndrome. When they occur in people with BAP1 tumor predisposition syndrome, cancers tend to arise at a younger age and are often more aggressive than cancers in the general population. The cancerous tumors in BAP1 tumor predisposition syndrome tend to spread (metastasize) to other parts of the body. Survival of affected individuals with this syndrome is usually shorter than in other people who have one of these cancers. However, individuals with malignant mesothelioma as part of the BAP1 tumor predisposition syndrome appear to survive longer than those who have the cancer without the syndrome. ## Frequency BAP1 tumor predisposition syndrome is a rare condition; its prevalence is unknown. More than 70 families with the condition have been described in the medical literature. ## Causes BAP1 tumor predisposition syndrome is caused by mutations in the BAP1 gene. The BAP1 protein acts as a tumor suppressor, which means it helps prevent cells from growing and dividing too rapidly or in an uncontrolled way. Its function is to remove molecules called ubiquitin from certain proteins (deubiquitination), which can affect the activity of the protein and its interactions with other proteins. By removing ubiquitin, BAP1 helps regulate diverse cellular processes. The BAP1 protein is thought to be involved in cell growth and division (proliferation), cell death, repair of damaged DNA, and control of gene activity. Mutations in the BAP1 gene lead to production of an altered protein that cannot function normally and may be broken down prematurely. In addition to an inherited (germline) mutation in one copy of the gene, which is found in essentially every cell of the body, a second, non-inherited (somatic) mutation usually occurs in the normal copy of the gene in cells that give rise to tumors. Together, the germline and somatic mutations result in a complete loss of BAP1 protein function in tumor cells. A shortage of this protein's function likely impairs the removal of ubiquitin from certain proteins. Although it is unclear exactly how loss of BAP1 function leads to BAP1 tumor predisposition syndrome, researchers speculate that altered activity of proteins normally regulated by BAP1 deubiquitination may promote cell proliferation or survival, resulting in tumor formation. Studies suggest that environmental and lifestyle factors help determine which types of tumor develop in individuals with BAP1 tumor predisposition syndrome. For example, exposure to asbestos likely contributes to the development of malignant mesothelioma. While asbestos increases the risk of malignant mesothelioma in the general population, the risk is even higher in individuals with a BAP1 gene mutation. It is not clear why certain tumor types are particularly associated with BAP1 tumor predisposition syndrome. ### Learn more about the gene associated with BAP1 tumor predisposition syndrome * BAP1 ## Inheritance Pattern BAP1 tumor predisposition syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered BAP1 gene increases the chance of developing one or more tumors. In most cases, an affected person has one parent with the condition. People with a mutation in the BAP1 gene inherit an increased risk of tumor formation. Not all people with a gene mutation will develop a tumor. [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 inhibitors [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-aminobutyric 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	BAP1 tumor predisposition syndrome	c3280492	27,605	medlineplus	https://medlineplus.gov/genetics/condition/bap1-tumor-predisposition-syndrome/	2021-01-27T08:25:49	{"gard": ["13219"], "omim": ["614327"], "synonyms": []}
A number sign (#) is used with this entry because of evidence that the Krakow type of spondyloepimetaphyseal dysplasia (SEMDK) is caused by homozygous mutation in the SIK3 gene (614776) on chromosome 11q23. Description Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018). Clinical Features Csukasi et al. (2018) reported 2 sibs (R07-429A and R07-429B) from a consanguineous family with spondyloepimetaphyseal dysplasia characterized by rhizomelia and mesomelia with significant anterior bowing of all limbs. Neither sib ever walked, and both were wheelchair bound, unable to bear weight on the lower extremities. Radiographic features included widened/flared metaphyses with irregular ossifications, moth-eaten long bones, fragmentation of the proximal metacarpals, rounded vertebral bodies, and a distinctive transverse gap in the tibiae. The sibs had significant developmental delay with abnormalities on brain MRI, as well as a severe unclassified immunodeficiency, and normal PTH levels with mild hypercalcemia. One sib showed a more severe phenotype, particularly of the immune system, and died of an Epstein-Barr virus-induced small-muscle cancer at 10 years of age. Her sib was alive at 14 years of age. The authors noted similarities between this skeletal dysplasia and metaphyseal chondrodysplasia of the Jansen type (MCDJ; 156400), but stated that the sibs exhibited unique features that did not match any of the currently classified skeletal disorders. Molecular Genetics In 2 sibs with SEMD, immunodeficiency, and developmental delay, who were negative for mutation in the PTH1R gene (168468), Csukasi et al. (2018) performed exome sequencing and identified homozygosity for a missense mutation in the SIK3 gene (R129C; 614776.0001) that segregated with disease in the consanguineous family. Pathogenesis Csukasi et al. (2018) analyzed cells from patients with SEMDK and controls and demonstrated that SIK3 is an essential positive regulator of mTOR (601231) signaling that functions by triggering DEPTOR (DEPDC6; 612974) degradation in response to PTH (168450)/PTHRP (168470) signaling during skeletogenesis. The authors also studied chondrocytes from patients with MCDJ, who exhibit skeletal features similar to those seen in SEMDK, and observed reduced SIK3 activity, elevated DEPTOR, and decreased mTORC1 and mTORC2 (see 601231) activity, indicating a common mechanism of disease for the 2 disorders. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Face \- Frontal bossing \- Flattened supraorbital ridges Eyes \- Hypertelorism Nose \- Allergic rhinitis Mouth \- High-arched palate CARDIOVASCULAR Heart \- Atrial septal defect \- Patent ductus arteriosus RESPIRATORY Airways \- Asthma CHEST External Features \- Pectus excavatum, mild ABDOMEN Pancreas \- Annular pancreas Gastrointestinal \- Poor feeding in first year of life \- Constipation \- Reversed course of colon SKELETAL Skull \- Sclerosis of skull base \- Platybasia \- Delayed ossification of fontanel \- Delayed ossification of basal occipital bone Spine \- Round vertebral bodies \- Delayed ossification of posterior elements Pelvis \- Delayed ossification of pubic bone Limbs \- Rhizomelia \- Mesomelia \- Ossification defects in appendicular skeleton \- Anterior bowing of upper extremities \- Anterior bowing of lower extremities \- Metaphyseal irregularities \- Epiphyseal delay \- Irregular epiphyses \- Enlarged distance from epiphyses to metaphyseal edge \- Elbow contractures \- Ulnar deviation at wrists \- Wrist laxity \- Knee contractures, mild Hands \- Brachydactyly \- Telescoping fingers \- Fifth-finger clinodactyly \- Metaphyseal irregularities \- Epiphyseal delay Feet \- Ankle laxity \- Positional equinovarus \- 2-3 toe syndactyly SKIN, NAILS, & HAIR Skin \- Easy bruising \- Eczema \- Atrophoderma NEUROLOGIC Central Nervous System \- Developmental delay \- Seizures \- Chiari malformation \- Hydrocephalus \- Ventricular enlargement \- Cerebral masses consistent with cavernous malformation \- Flattening of medulla IMMUNOLOGY \- Immunodeficiency \- Low IgM \- Low CD4, T-cell helper subset \- Low CD4 absolute count \- Elevated CD8, cytotoxic T-cell subset \- Elevated CD8 absolute count \- Low CD4/CD8 ratio NEOPLASIA \- Epstein-Barr virus-induced small-muscle cancer (in 1 patient) LABORATORY ABNORMALITIES \- Mildly elevated serum calcium level \- Elevated alkaline phosphatase level \- Low IGF1 level \- Low IGFBP3 level MISCELLANEOUS \- Based on report of 2 sibs (last curated October 2018) \- Patients were wheelchair bound and never walked \- One sib died at age 10 years of Epstein-Barr virus-induced small-muscle cancer MOLECULAR BASIS \- Caused by mutation in the SIK family kinase-3 gene (SIK3, 614776.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE	None	27,606	omim	https://www.omim.org/entry/618162	2019-09-22T15:43:19	{"omim": ["618162"], "synonyms": ["Alternative titles", "IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE"]}
Schindler disease is an inherited disorder that primarily causes neurological problems. There are three types of Schindler disease. Schindler disease type I, also called the infantile type, is the most severe form. Babies with Schindler disease type I appear healthy at birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired (developmental regression). As the disorder progresses, affected individuals develop blindness and seizures, and eventually they lose awareness of their surroundings and become unresponsive. People with this form of the disorder usually do not survive past early childhood. Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). They may experience weakness and loss of sensation due to problems with the nerves connecting the brain and spinal cord to muscles and sensory cells (peripheral nervous system). Clusters of enlarged blood vessels that form small, dark red spots on the skin (angiokeratomas) are characteristic of this form of the disorder. Schindler disease type III is intermediate in severity between types I and II. Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). In other cases, people with this form of the disorder exhibit behavioral problems beginning in early childhood, with some features of autism spectrum disorders. Autism spectrum disorders are characterized by impaired communication and socialization skills. ## Frequency Schindler disease is very rare. Only a few individuals with each type of the disorder have been identified. ## Causes Mutations in the NAGA gene cause Schindler disease. The NAGA gene provides instructions for making the enzyme alpha-N-acetylgalactosaminidase. This enzyme works in the lysosomes, which are compartments within cells that digest and recycle materials. Within lysosomes, the enzyme helps break down complexes called glycoproteins and glycolipids, which consist of sugar molecules attached to certain proteins and fats. Specifically, alpha-N-acetylgalactosaminidase helps remove a molecule called alpha-N-acetylgalactosamine from sugars in these complexes. Mutations in the NAGA gene interfere with the ability of the alpha-N-acetylgalactosaminidase enzyme to perform its role in breaking down glycoproteins and glycolipids. These substances accumulate in the lysosomes and cause cells to malfunction and eventually die. Cell damage in the nervous system and other tissues and organs of the body leads to the signs and symptoms of Schindler disease. ### Learn more about the gene associated with Schindler disease * NAGA ## 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 inhibitors [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-aminobutyric 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	Schindler disease	c1836522	27,607	medlineplus	https://medlineplus.gov/genetics/condition/schindler-disease/	2021-01-27T08:25:50	{"gard": ["116"], "mesh": ["C536631"], "omim": ["609242", "609241"], "synonyms": []}
Nuclear sclerosis Nuclear sclerosis is an age-related change in the density of the crystalline lens nucleus that occurs in all older animals.[1] It is caused by compression of older lens fibers in the nucleus by new fiber formation. The denser construction of the nucleus causes it to scatter light. Although nuclear sclerosis may describe a type of early cataract in human medicine,[2] in veterinary medicine the term is also known as lenticular sclerosis and describes a bluish-grey haziness at the nucleus that usually does not affect vision, except for unusually dense cases. Immature senile cataract has to be differentiated with nuclear sclerosis while making its diagnosis.[3] ## Veterinary Medicine[edit] In veterinary practice, nuclear sclerosis is a consistent finding in dogs greater than six years old.[4] Nuclear sclerosis appears as a bilateral bluish-grey haziness at the nucleus, or center of the lens, caused by an increase in the refractive index of that part of the lens due to its increased density. It is often confused with cataracts. The condition is differentiated from a cataract by its appearance and by shining a penlight into the eye. With nuclear sclerosis, a reflection from the tapetum will be seen, while a cataract will block reflection.[5] There is no treatment for this condition currently. ## References[edit] 1. ^ "Cataract Surgery – FAQs: What is nuclear sclerosis?" Archived 2007-03-13 at the Wayback Machine Iowa State University, College of Veterinary Medicine, Veterinary Teaching Hospital, Ophthalmology Department. Accessed November 18, 2006. 2. ^ Cassin, B. and Solomon, S. Dictionary of Eye Terminology. Gainesville, Florida: Triad Publishing Company, 1990. 3. ^ Sapienza, John S. (2002). "Cataracts". Proceedings of the 27th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-13. 4. ^ Gelatt, Kirk N. (ed.) (1999). Veterinary Ophthalmology (3rd ed.). Lippincott, Williams & Wilkins. ISBN 0-683-30076-8.CS1 maint: extra text: authors list (link) 5. ^ Petersen-Jones, Simon M. (2003). "Conditions of the Lens". Proceedings of the 28th World Congress of the World Small Animal Veterinary Association. Retrieved 2007-03-13. ## External links[edit] * Images [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 inhibitors [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-aminobutyric 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	Nuclear sclerosis	c0392557	27,608	wikipedia	https://en.wikipedia.org/wiki/Nuclear_sclerosis	2021-01-18T18:36:05	{"umls": ["C0392557"], "wikidata": ["Q7068198"]}
Malignant hyperthermia Other namesMalignant hyperpyrexia, anesthesia related hyperthermia[1] Abnormalities in the ryanodine receptor 1 gene are commonly detected in people who have experienced an episode of malignant hyperthermia SpecialtyAnesthesiology, critical care medicine SymptomsMuscle rigidity, high body temperature, fast heart rate[1] ComplicationsRhabdomyolysis, high blood potassium[1][2] CausesVolatile anesthetic agents or succinylcholine in those who are susceptible[1][3] Diagnostic methodBased on symptoms and situation[2] Differential diagnosisSepsis, anaphylaxis, serotonin syndrome, neuroleptic malignant syndrome[3] PreventionAvoiding potential triggers in those susceptible[2] TreatmentDantrolene, supportive care[4] PrognosisRisk of death: 5% (treatment), 75% (no treatment)[3] Frequency~1 in 25,000 cases where anesthetic gases are used[1] Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular medications used during general anesthesia, among those who are susceptible.[1] Symptoms include muscle rigidity, high fever, and a fast heart rate.[1] Complications can include muscle breakdown and high blood potassium.[1][2] Most people who are susceptible are generally otherwise unaffected when not exposed.[3] The cause of MH is the use of certain volatile anesthetic agents or succinylcholine in those who are susceptible.[1][3] Susceptibility can occur due to at least six genetic mutations, with the most common one being of the RYR1 gene.[1] These genetic variations are often inherited from a person's parents in an autosomal dominant manner.[1] The condition may also occur as a new mutation or be associated with a number of inherited muscle diseases, such as central core disease.[1][4] In susceptible individuals, the medications induce the release of stored calcium ions within muscle cells.[1] The resulting increase in calcium concentrations within the cells cause the muscle fibers to contract.[1] This generates excessive heat and results in metabolic acidosis.[1] Diagnosis is based on symptoms in the appropriate situation.[2] Family members may be tested to see if they are susceptible by muscle biopsy or genetic testing.[4] Treatment is with dantrolene and rapid cooling along with other supportive measures.[2][4] The avoidance of potential triggers is recommended in susceptible people.[2] The condition affects one in 5,000 to 50,000 cases where people are given anesthetic gases.[1] Males are more often affected than females.[3] The risk of death with proper treatment is about 5% while without it is around 75%.[3] While cases that appear similar to MH have been documented since the early 20th century, the condition was only formally recognized in 1960.[3] ## Contents * 1 Signs and symptoms * 2 Causes * 2.1 Genetics * 3 Pathophysiology * 3.1 Disease mechanism * 3.2 Animal model * 4 Diagnosis * 4.1 During an attack * 4.2 Susceptibility testing * 4.2.1 Muscle testing * 4.2.2 Genetic testing * 4.3 Criteria * 5 Prevention * 5.1 Anesthesia machine preparation * 6 Treatment * 6.1 Dantrolene * 6.2 Training * 7 Prognosis * 8 Epidemiology * 9 History * 10 Other animals * 11 Research * 12 References * 13 External links ## Signs and symptoms[edit] The typical signs of malignant hyperthermia are due to a hypercatabolic state, which presents as a very high temperature, an increased heart rate and abnormally rapid breathing, increased carbon dioxide production, increased oxygen consumption, mixed acidosis, rigid muscles, and rhabdomyolysis.[5] These signs can develop any time during the administration of the anesthetic triggering agents. It is difficult to find confirmed cases in the postoperative period more than several minutes after discontinuation of anesthetic agents.[6] ## Causes[edit] Malignant hyperthermia is a disorder that can be considered a gene–environment interaction. In most people with malignant hyperthermia susceptibility, they have few or no symptoms unless they are exposed to a triggering agent. The most common triggering agents are volatile anesthetic gases, such as halothane, sevoflurane, desflurane, isoflurane, enflurane or the depolarizing muscle relaxants suxamethonium and decamethonium used primarily in general anesthesia.[5] In rare cases, the biological stresses of physical exercise or heat may be the trigger.[5][7] Other anesthetic drugs do not trigger malignant hyperthermia. Some examples of drugs that don't cause MH include local anesthetics (lidocaine, bupivacaine, mepivacaine), opiates (morphine, fentanyl), ketamine, barbiturates, nitrous oxide, propofol, etomidate, and benzodiazepines. The nondepolarizing muscle relaxants pancuronium, cisatracurium, atracurium, mivacurium, vecuronium and rocuronium also do not cause MH. There is mounting evidence that some individuals with malignant hyperthermia susceptibility may develop MH with exercise and/or on exposure to hot environments.[8] ### Genetics[edit] Malignant hyperthermia's inheritance is autosomal dominant with variable penetrance.[5] The defect is typically located on the long arm of chromosome 19 (19q13.2[9]) involving the ryanodine receptor.[5] More than 25 different mutations in this gene are linked with malignant hyperthermia.[5] These mutations tend to cluster in one of three domains within the protein, designated MH1-3. MH1 and MH2 are located in the N-terminus of the protein, which interacts with L-type calcium channels and Ca2+ . MH3 is located in the transmembrane forming C-terminus. This region is important for allowing Ca2+ passage through the protein following opening.[citation needed] Chromosome 7q and chromosome 17 have also been implicated. It has also been postulated that MH and central core disease may be allelic and thus can be co-inherited. ## Pathophysiology[edit] ### Disease mechanism[edit] In a large proportion (50–70%) of cases, the propensity for malignant hyperthermia is due to a mutation of the ryanodine receptor (type 1), located on the sarcoplasmic reticulum (SR), the organelle within skeletal muscle cells that stores calcium.[10][11] RYR1 opens in response to increases in intracellular Ca2+ level mediated by L-type calcium channels, thereby resulting in a drastic increase in intracellular calcium levels and muscle contraction. RYR1 has two sites believed to be important for reacting to changing Ca2+ concentrations: the A-site and the I-site. The A-site is a high affinity Ca2+ binding site that mediates RYR1 opening. The I-site is a lower affinity site that mediates the protein's closing. Caffeine, halothane, and other triggering agents act by drastically increasing the affinity of the A-site for Ca2+ and concomitantly decreasing the affinity of the I-site in mutant proteins. Mg2+ also affect RYR1 activity, causing the protein to close by acting at either the A- or I-sites. In MH mutant proteins, the affinity for Mg2+ at either one of these sites is greatly reduced. The end result of these alterations is greatly increased Ca2+ release due to a lowered activation and heightened deactivation threshold.[12][13] The process of sequestering this excess Ca2+ consumes large amounts of adenosine triphosphate (ATP), the main cellular energy carrier, and generates the excessive heat (hyperthermia) that is the hallmark of the disease. The muscle cell is damaged by the depletion of ATP and possibly the high temperatures, and cellular constituents "leak" into the circulation, including potassium, myoglobin, creatine, phosphate and creatine kinase.[citation needed] The other known causative gene for MH is CACNA1S, which encodes an L-type voltage-gated calcium channel α-subunit. There are two known mutations in this protein, both affecting the same residue, R1086.[14][15] This residue is located in the large intracellular loop connecting domains 3 and 4, a domain possibly involved in negatively regulating RYR1 activity. When these mutant channels are expressed in human embryonic kidney (HEK 293) cells, the resulting channels are five times more sensitive to activation by caffeine (and presumably halothane) and activate at 5–10mV more hyperpolarized. Furthermore, cells expressing these channels have an increased basal cytosolic Ca2+ concentration. As these channels interact with and activate RYR1, these alterations result in a drastic increase of intracellular Ca2+ , and, thereby, muscle excitability.[16] Other mutations causing MH have been identified, although in most cases the relevant gene remains to be identified.[17] ### Animal model[edit] Research into malignant hyperthermia was limited until the discovery of "porcine stress syndrome" (PSS) in Danish Landrace and other pig breeds selected for muscling, a condition in which stressed pigs develop "pale, soft, exudative" flesh (a manifestation of the effects of malignant hyperthermia) rendering their meat less marketable at slaughter. This "awake triggering" was not observed in humans, and initially cast doubts on the value of the animal model, but subsequently, susceptible humans were discovered to "awake trigger" (develop malignant hyperthermia) in stressful situations. This supported the use of the pig model for research. Pig farmers use halothane cones in swine yards to expose piglets to halothane. Those that die were MH-susceptible, thus saving the farmer the expense of raising a pig whose meat he would not be able to market. This also reduced the use of breeding stock carrying the genes for PSS. The condition in swine is also due to a defect in ryanodine receptors.[18] Gillard et al. discovered the causative mutation in humans only after similar mutations had first been described in pigs.[10] Horses also suffer from malignant hyperthermia. A causative mutated allele, ryanodine receptor 1 gene (RyR1) at nucleotide C7360G, generating a R2454G amino acid substitution.[19] has been identified in the American Quarter Horse and breeds with Quarter Horse ancestry, inherited as an autosomal dominant.[20][21] It can be caused by overwork, anesthesia, or stress.[22] In dogs, its inheritance is autosomal recessive.[5] An MH mouse has been constructed, bearing the R163C mutation prevalent in humans. These mice display signs similar to human MH patients, including sensitivity to halothane (increased respiration, body temperature, and death). Blockade of RYR1 by dantrolene prevents adverse reaction to halothane in these mice, as with humans. Muscle from these mice also shows increased K+ -induced depolarization and an increased caffeine sensitivity.[23] ## Diagnosis[edit] ### During an attack[edit] The earliest signs may include: masseter muscle contracture following administration of succinylcholine, a rise in end-tidal carbon dioxide concentration (despite increased minute ventilation), unexplained tachycardia, and muscle rigidity.[5] Despite the name, elevation of body temperature is often a late sign, but may appear early in severe cases. Respiratory acidosis is universally present and many patients have developed metabolic acidosis at the time of diagnosis. A fast rate of breathing (in a spontaneously breathing patient), cyanosis, hypertension, abnormal heart rhythms, and high blood potassium may also be seen. Core body temperatures should be measured in any patient undergoing general anesthesia longer than 30 minutes. Malignant hyperthermia is diagnosed on clinical grounds, but various laboratory investigations may prove confirmatory. These include a raised creatine kinase level, elevated potassium, increased phosphate (leading to decreased calcium) and—if determined—raised myoglobin; this is the result of damage to muscle cells. Severe rhabdomyolysis may lead to acute kidney failure, so kidney function is generally measured on a frequent basis. Patients may also get premature ventricular contractions due to the increased levels of potassium released from the muscles during episodes.[citation needed] ### Susceptibility testing[edit] #### Muscle testing[edit] The main candidates for testing are those with a close relative who has suffered an episode of MH or have been shown to be susceptible. The standard procedure is the "caffeine-halothane contracture test", CHCT. A muscle biopsy is carried out at an approved research center, under local anesthesia. The fresh biopsy is bathed in solutions containing caffeine or halothane and observed for contraction; under good conditions, the sensitivity is 97% and the specificity 78%.[24] Negative biopsies are not definitive, so any patient who is suspected of MH by their medical history or that of blood relatives is generally treated with non-triggering anesthetics, even if the biopsy was negative. Some researchers advocate the use of the "calcium-induced calcium release" test in addition to the CHCT to make the test more specific.[citation needed] Less invasive diagnostic techniques have been proposed. Intramuscular injection of halothane 6 vol% has been shown to result in higher than normal increases in local pCO 2 among patients with known malignant hyperthermia susceptibility. The sensitivity was 100% and specificity was 75%. For patients at similar risk to those in this study, this leads to a positive predictive value of 80% and negative predictive value of 100%. This method may provide a suitable alternative to more invasive techniques.[25] A 2002 study examined another possible metabolic test. In this test, intramuscular injection of caffeine was followed by local measurement of the pCO 2; those with known MH susceptibility had a significantly higher pCO 2 (63 versus 44 mmHg). The authors propose larger studies to assess the test's suitability for determining MH risk.[26] #### Genetic testing[edit] Genetic testing is being performed in a limited fashion to determine susceptibility to MH.[5] In people with a family history of MH, analysis for RYR1 mutations may be useful.[17] ### Criteria[edit] A 1994 consensus conference led to the formulation of a set of diagnostic criteria. The higher the score (above 6), the more likely a reaction constituted MH:[27] * Respiratory acidosis (end-tidal CO 2 above 55 mmHg/7.32 kPa or arterial pCO 2 above 60 mmHg/7.98 kPa) * Heart involvement (unexplained sinus tachycardia, ventricular tachycardia or ventricular fibrillation) * Metabolic acidosis (base excess lower than -8, pH <7.25) * Muscle rigidity (generalized rigidity including severe masseter muscle rigidity) * Muscle breakdown (CK >20,000/L units, cola colored urine or excess myoglobin in urine or serum, potassium above 6 mmol/l) * Temperature increase (rapidly increasing temperature, T >38.8 °C) * Other (rapid reversal of MH signs with dantrolene, elevated resting serum CK levels) * Family history (autosomal dominant pattern) ## Prevention[edit] In the past, the prophylactic use of dantrolene was recommended for MH-susceptible patients undergoing general anesthesia.[28] However, multiple retrospective studies have demonstrated the safety of trigger-free general anesthesia in these patients in the absence of prophylactic dantrolene administration. The largest of these studies looked at the charts of 2214 patients who underwent general or regional anesthesia for an elective muscle biopsy. About half (1082) of the patients were muscle biopsy positive for MH. Only five of these patients exhibited signs consistent with MH, four of which were treated successfully with parenteral dantrolene, and the remaining one recovered with only symptomatic therapy.[29] After weighing its questionable benefits against its possible adverse effects (including nausea, vomiting, muscle weakness and prolonged duration of action of nondepolarizing neuromuscular blocking agents[30]), experts no longer recommend the use of prophylactic dantrolene prior to trigger-free general anesthesia in MH-susceptible patients.[28] ### Anesthesia machine preparation[edit] Anesthesia for people with known MH susceptible requires avoidance of triggering agent concentrations above 5 parts per million (all volatile anesthetic agents and succinylcholine). Most other drugs are safe (including nitrous oxide), as are regional anesthetic techniques. Where general anesthesia is planned, it can be provided safely by either flushing the machine or using charcoal filters.[citation needed] To flush the machine, first remove or disable the vaporizers and then flush the machine with 10 L/min or greater fresh gas flow rate for at least 20 minutes. While flushing the machine the ventilator should be set to periodically ventilate a new breathing circuit. The soda lime should also be replaced. After machine preparation, anesthesia should be induced and maintained with non-triggering agents.[30] The time required to flush a machine varies for different machines and volatile anesthetics. This prevention technique was optimized to prepare older generation anesthesia machines. Modern anesthetic machines have more rubber and plastic components which provide a reservoir for volatile anesthetics, and should be flushed for 60 minutes.[31] Charcoal filters can be used to prepare an anesthesia machine in less than 60 seconds for people at risk of malignant hyperthermia. These filters prevent residual anesthetic from triggering malignant hyperthermia for up to 12 hours, even at low fresh gas flows.[32] Prior to placing the charcoal filters, the machine should be flushed with fresh gas flows greater than 10 L/min for 90 seconds.[33] ## Treatment[edit] Dantrolene sodium, the only available medical treatment for malignant hyperthermia The current treatment of choice is the intravenous administration of dantrolene, the only known antidote, discontinuation of triggering agents, and supportive therapy directed at correcting hyperthermia, acidosis, and organ dysfunction. Treatment must be instituted rapidly on clinical suspicion of the onset of malignant hyperthermia.[30] ### Dantrolene[edit] Dantrolene is a muscle relaxant that appears to work directly on the ryanodine receptor to prevent the release of calcium. After the widespread introduction of treatment with dantrolene, the mortality of malignant hyperthermia fell from 80% in the 1960s to less than 5%.[5] Dantrolene remains the only drug known to be effective in the treatment of MH.[28] The recommended dose of dantrolene is 2.5 mg/kg, repeated as necessary.[5] It is recommended that each hospital keeps a minimum stock of 36 dantrolene vials (720 mg), sufficient for four doses in a 70-kg person.[34] ### Training[edit] This is a mixed modality medical simulation of the treatment of malignant hyperthermia by anesthesia residents. The residents are managing care, mixing dantrolene and utilizing a cognitive aid at the bedside. Fast recognition and treatment of MH utilizes skills and procedures that are utilized with a low-frequency and high-risk.[35] Conducting MH crisis training for perioperative teams can identify system failures as well as improve response to these events.[36] Simulation techniques to include the use of cognitive aids have also been shown to improve communication in clinical treatment of MH.[37][38] ## Prognosis[edit] Prognosis is poor if this condition is not aggressively treated.[5] In the 1970s, mortality was greater than 80%; with the current management, however, mortality is now less than 5%.[5] ## Epidemiology[edit] It occurs in between 1:5,000 and 1:100,000 in procedures involving general anaesthesia.[5] This disorder occurs worldwide and affects all racial groups. In the Manawatu region of New Zealand, up to 1 in 200 people are at high risk of the condition.[39] ## History[edit] The syndrome was first recognized in Royal Melbourne Hospital, Australia in an affected family by Denborough et al. in 1962.[40][41] Denborough did much of his subsequent work on the condition at the Royal Canberra Hospital.[42] Similar reactions were found in pigs.[43] The efficacy of dantrolene as a treatment was discovered by South African anesthesiologist Gaisford Harrison and reported in a 1975 article published in the British Journal of Anaesthesia.[44] After further animal studies corroborated the possible benefit from dantrolene, a 1982 study confirmed its usefulness in humans.[45] In 1981, the Malignant Hyperthermia Association of the United States (MHAUS) hotline was established to provide telephone support to clinical teams treating patients with suspected malignant hyperthermia. The hotline became active in 1982 and since that time MHAUS has provided continuous access to board-certified anesthesiologists to assist teams in treatment.[46] ## Other animals[edit] Other animals, including certain pig breeds, dogs, and horses, are susceptible to malignant hyperthermia.[5] In dogs its inheritance is autosomal dominant.[47] In pigs its inheritance is autosomal recessive.[5] In horses its inheritance is autosomal dominant, and most associated with the American Quarter Horse although it can occur in other breeds.[48] ## Research[edit] Azumolene is a 30-fold more water-soluble analog of dantrolene that also works to decrease the release of intracellular calcium by its action on the ryanodine receptor. In MH-susceptible swine, azumolene was as potent as dantrolene.[49] It has yet to be studied in vivo in humans, but may present a suitable alternative to dantrolene in the treatment of MH. ## References[edit] 1. ^ a b c d e f g h i j k l m n o p "malignant hyperthermia". Genetics Home Reference. Jan 27, 2017. Archived from the original on 27 June 2017. Retrieved 30 June 2017. 2. ^ a b c d e f g "Malignant hyperthermia" (PDF). Orpha.net. March 2013. Archived (PDF) from the original on 17 June 2013. Retrieved 30 June 2017. 3. ^ a b c d e f g h Schneiderbanger, D; Johannsen, S; Roewer, N; Schuster, F (2014). "Management of malignant hyperthermia: diagnosis and treatment". Therapeutics and Clinical Risk Management. 10: 355–62. doi:10.2147/TCRM.S47632. PMC 4027921. PMID 24868161. 4. ^ a b c d "Malignant hyperthermia". GARD. 30 June 2014. Archived from the original on 4 July 2017. Retrieved 30 June 2017. 5. ^ a b c d e f g h i j k l m n o p Rosenberg H, Davis M, James D, Pollock N, Stowell K (April 2007). "Malignant hyperthermia". Orphanet Journal of Rare Diseases. 2: 21. doi:10.1186/1750-1172-2-21. PMC 1867813. PMID 17456235. 6. ^ Litman, Ronald; Flood, Christopher D.; Kaplan, Richard F.; Kim, Yung Ly; Tobin, Joseph R. (November 2008). 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"Anesthesia crisis resource management: real-life simulation training in operating room crises". Journal of Clinical Anesthesia. 7 (8): 675–87. doi:10.1016/0952-8180(95)00146-8. PMID 8747567. 39. ^ Rosenberg, Henry; Pollock, Neil; Schiemann, Anja; Bulger, Terasa; Stowell, Kathryn (4 August 2015). "Malignant hyperthermia: a review". Orphanet Journal of Rare Diseases. 10 (1): 93. doi:10.1186/s13023-015-0310-1. PMC 4524368. PMID 26238698. 40. ^ "Anaesthesia \| the Royal Melbourne Hospital". Archived from the original on 2013-08-26. Retrieved 2014-03-17. 41. ^ Denborough MA, Forster JF, Lovell RR, Maplestone PA, Villiers JD (1962). "Anaesthetic deaths in a family". British Journal of Anaesthesia. 34 (6): 395–6. doi:10.1093/bja/34.6.395. PMID 13885389. Historical account in Denborough MA (2008). "Malignant hyperthermia. 1962". Anesthesiology. 108 (1): 156–7. doi:10.1097/01.anes.0000296107.23210.dd. PMID 18156894. 42. ^ Malcolm Whyte. 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S2CID 10877298. ## External links[edit] * GeneReview/NIH/UW entry on Malignant Hyperthermia Susceptibility Classification D * ICD-10: T88.3 * ICD-9-CM: 995.86 * OMIM: 145600 * MeSH: D008305 * DiseasesDB: 7776 External resources * MedlinePlus: 001315 * GeneReviews: Malignant Hyperthermia Susceptibility * v * t * e Diseases of ion channels Calcium channel Voltage-gated * CACNA1A * Familial hemiplegic migraine 1 * Episodic ataxia 2 * Spinocerebellar ataxia type-6 * CACNA1C * Timothy syndrome * Brugada syndrome 3 * Long QT syndrome 8 * CACNA1F * Ocular albinism 2 * CSNB2A * CACNA1S * Hypokalemic periodic paralysis 1 * Thyrotoxic periodic paralysis 1 * CACNB2 * Brugada syndrome 4 Ligand gated * RYR1 * Malignant hyperthermia * Central core disease * RYR2 * CPVT1 * ARVD2 Sodium channel Voltage-gated * SCN1A * Familial hemiplegic migraine 3 * GEFS+ 2 * Febrile seizure 3A * SCN1B * Brugada syndrome 6 * GEFS+ 1 * SCN4A * Hypokalemic periodic paralysis 2 * Hyperkalemic periodic paralysis * Paramyotonia congenita * Potassium-aggravated myotonia * SCN4B * Long QT syndrome 10 * SCN5A * Brugada syndrome 1 * Long QT syndrome 3 * SCN9A * Erythromelalgia * Febrile seizure 3B * Paroxysmal extreme pain disorder * Congenital insensitivity to pain Constitutively active * SCNN1B/SCNN1G * Liddle's syndrome * SCNN1A/SCNN1B/SCNN1G * Pseudohypoaldosteronism 1AR Potassium channel Voltage-gated * KCNA1 * Episodic ataxia 1 * KCNA5 * Familial atrial fibrillation 7 * KCNC3 * Spinocerebellar ataxia type-13 * KCNE1 * Jervell and Lange-Nielsen syndrome * Long QT syndrome 5 * KCNE2 * Long QT syndrome 6 * KCNE3 * Brugada syndrome 5 * KCNH2 * Short QT syndrome * KCNQ1 * Jervell and Lange-Nielsen syndrome * Romano–Ward syndrome * Short QT syndrome * Long QT syndrome 1 * Familial atrial fibrillation 3 * KCNQ2 * BFNS1 Inward-rectifier * KCNJ1 * Bartter syndrome 2 * KCNJ2 * Andersen–Tawil syndrome * Long QT syndrome 7 * Short QT syndrome * KCNJ11 * TNDM3 * KCNJ18 * Thyrotoxic periodic paralysis 2 Chloride channel * CFTR * Cystic fibrosis * Congenital absence of the vas deferens * CLCN1 * Thomsen disease * Myotonia congenita * CLCN5 * Dent's disease * CLCN7 * Osteopetrosis A2, B4 * BEST1 * Vitelliform macular dystrophy * CLCNKB * Bartter syndrome 3 TRP channel * TRPC6 * FSGS2 * TRPML1 * Mucolipidosis type IV Connexin * GJA1 * Oculodentodigital dysplasia * Hallermann–Streiff syndrome * Hypoplastic left heart syndrome * GJB1 * Charcot–Marie–Tooth disease X1 * GJB2 * Keratitis–ichthyosis–deafness syndrome * Ichthyosis hystrix * Bart–Pumphrey syndrome * Vohwinkel syndrome) * GJB3/GJB4 * Erythrokeratodermia variabilis * Progressive symmetric erythrokeratodermia * GJB6 * Clouston's hidrotic ectodermal dysplasia Porin * AQP2 * Nephrogenic diabetes insipidus 2 See also: ion channels * v * t * e Anesthesia and anesthesiology Types * General * Sedation * Twilight anesthesia * Local * Topical * Intercostal nerve block * Neuraxial blockade * Spinal * Epidural * Dental * Inferior alveolar nerve Techniques * Airway management * Anesthesia provision in the US * Arterial catheter * Bronchoscopy * Capnography * Dogliotti's principle * Drug-induced amnesia * Intraoperative neurophysiological monitoring * Nerve block * Penthrox inhaler * Tracheal intubation Scientific principles * Blood–gas partition coefficient * Concentration effect * Fink effect * Minimum alveolar concentration * Second gas effect Measurements * ASA physical status classification system * Baricity * Bispectral index * Entropy monitoring * Fick principle * Goldman index * Guedel's classification * Mallampati score * Neuromuscular monitoring * Thyromental distance Instruments * Anaesthetic machine * Anesthesia cart * Boyle's machine * Gas cylinder * Laryngeal mask airway * Laryngeal tube * Medical monitor * Odom's indicator * Relative analgesia machine * Vaporiser * Double-lumen endotracheal tube * Endobronchial blocker Complications * Emergence delirium * Allergic reactions * Anesthesia awareness * Local anesthetic toxicity * Malignant hyperthermia * Perioperative mortality * Postanesthetic shivering * Postoperative nausea and vomiting * Postoperative residual curarization Subspecialties * Cardiothoracic * Critical emergency medicine * Geriatric * Intensive care medicine * Obstetric * Oral sedation dentistry * Pain medicine Professions * Anesthesiologist * Anesthesiologist assistant * Nurse anesthetist * Operating department practitioners * Certified Anesthesia Technician * Certified Anesthesia Technologist * Anaesthetic technician * Physicians' assistant (anaesthesia) History * ACE mixture * Helsinki Declaration for Patient Safety in Anaesthesiology * History of general anesthesia * History of neuraxial anesthesia * History of tracheal intubation Organizations * American Association of Nurse Anesthetists * American Society of Anesthesia Technologists & Technicians * American Society of Anesthesiologists * Anaesthesia Trauma and Critical Care * Association of Anaesthetists of Great Britain and Ireland * Royal College of Anaesthetists * Association of Veterinary Anaesthetists * Australian and New Zealand College of Anaesthetists * Australian Society of Anaesthetists * International Anesthesia Research Society * Category * Outline [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 inhibitors [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-aminobutyric 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	Malignant hyperthermia	c0024591	27,609	wikipedia	https://en.wikipedia.org/wiki/Malignant_hyperthermia	2021-01-18T19:07:45	{"gard": ["6964"], "mesh": ["D008305"], "umls": ["C0024591"], "orphanet": ["423"], "wikidata": ["Q1585081"]}
A rare ophthalmic disorder that is usually characterized by a progressive loss of central vision associated with irregular macular and perimacular yellow-white fundus flecks, and a so-called ''beaten bronze'' atrophic central macular lesion. ## Epidemiology The prevalence is estimated at 1/8,000 - 1/10,000. Both sexes are equally affected. ## Clinical description The disease typically presents within the first two decades of life, even though symptoms can also appear during adulthood and as late as the seventh decade. Although disease progression and severity varies widely, Stargardt disease (STGD1) is usually characterized by a progressive loss of central vision causing blurry vision and, occasionally, an increasing difficulty to adapt in the dark. Peripheral vision is usually normal. Most affected individuals also have impaired color vision. Photophobia may be present. ## Etiology The disorder has been linked to mutations in the ABCA4 gene, which encodes an adenosine triphosphate (ATP)-binding cassette transporter (ABCR) expressed specifically in the cones and rods of the retina. Defects in ABCR function cause the accumulation of all-trans-retinal and its cytotoxic derivatives, mainly lipofuscin pigments (e.g., diretinoid-pyridinium-ethanolamine) in photoreceptors and retinal pigment epithelial (RPE) cells, ultimately causing RPE cell death and the subsequent loss of photoreceptors. Mutations in ABCA4 have been linked to a spectrum of phenotypes ranging from STGD1 to cone rod dystrophy and severe early-onset retinal dystrophy. ## Diagnostic methods The clinical diagnosis is based on ophthalmological examinations consisting of visual acuity and visual field testing, ophthalmoscopy, electroretinography (ERG), fluorescein angiography (FA), fundus autofluorescence (FAF), and optical coherence tomography (OCT), revealing macular anomalies (progressive atrophy often in a 'beaten bronze pattern') and yellow-white fishtail flecks that may present only in the central macula but may also extend beyond the vascular arcades. These flecks are hyper autofluorescent on FAF images. Fluorescein angiography reveals the characteristic dark choroid (''silence choroidien'') in aproximately 85% of the patients. Diagnosis can be confirmed by genetic testing of the ABCA4 gene. ## Differential diagnosis Differential diagnosis includes multifocal pattern dystrophy simulating STGD1 and retinal and/ or macular dystrophies such as central areolar choroidal dystrophy (CACD), achromatopsia, cone dystrophy (CD) and cone rod dystrophy (CRD). In addition, two autosomal dominant types of macular dystrophy exist that resemble STGD1: STGD3 caused by mutations in the ELOVL4 gene and STGD4 associated with mutations in PROM1. ## Antenatal diagnosis Prenatal diagnosis is technically possible by means of genetic testing of the ABCA4 gene, but is not used in clinical practice. ## Genetic counseling The disorder is transmitted in an autosomal recessive or an autosomal dominant mode of inheritance. Genetic counseling should be offered to at-risk couples informing them that there is 25% or 50% risk, respectively, of transmitting the disease to offspring. ## Management and treatment Preventive measures for slowing down the progression of the disease include avoidance of overexposure to visible light with sunglasses and no intake of vitamin A supplements. Regular ophthalmologic evaluations are recommended. Currently, various treatment options are being developed. Different oral medical treatments that prevent the accumulation of lipofuscin in Stargardt disease are being tested in phase II/III clinical trials. These medical treatments inhibit the visual cycle by blocking the action of certain enzymes in the retina (RPE65/RBP4/LRAT/RDH5), replace vitamin A with a deuterated form of vitamin A (ALK001) or aid in the removal of lipofuscine by breaking down the lipofuscin (Soraprazan). ## Prognosis Due to the high clinical variability, prognosis depends on certain parameters (notably age of onset and electroretinographic findings) that may help the clinician provide the patient with an indication of the course of the disease. STGD1 may progress rapidly over a few months or gradually over several years leading to a severe decrease in visual acuity. Typically, peripheral vision is not affected, although certain patients may progress to a cone-rod phenotype that does affect the peripheral retinal function. [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 inhibitors [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-aminobutyric 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	Stargardt disease	c0271093	27,610	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=827	2021-01-23T17:55:41	{"gard": ["181"], "mesh": ["C535804"], "omim": ["248200", "600110", "603786"], "umls": ["C0271093", "C1855465"], "icd-10": ["H35.5"], "synonyms": ["Fundus flavimaculatus", "Stargardt 1"]}
A rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case. [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 inhibitors [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-aminobutyric 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	Autosomal dominant spastic paraplegia type 10	c1858712	27,611	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=100991	2021-01-23T17:04:13	{"gard": ["9590"], "mesh": ["C537482"], "omim": ["604187"], "umls": ["C1858712"], "icd-10": ["G11.4"], "synonyms": ["SPG10"]}
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome is a rare orofacial clefting syndrome characterized by microcephaly, cleft of the secondary palate and other variable abnormalities, including abnormal retinal pigmentation, facial dysmorphism with hypotelorism and maxillary hypoplasia. Goiter, camptodactyly, abnormal dermatoglyphics and mild intellectual disability may also be associated. There have been no further descriptions in the literature since 1983. [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 inhibitors [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-aminobutyric 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	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome	c2930954	27,612	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2521	2021-01-23T17:30:45	{"gard": ["8623"], "mesh": ["C535622"], "umls": ["C2930954"], "icd-10": ["Q87.8"]}
Spondylometaphyseal dysplasia, Czarny-Ratajczak type is a rare primary bone dysplasia disorder characterized by short stature with severe shortening of limbs, genu vara deformity and enlarged joints with movement limitation particularly affecting the hip joints. Radiological findings show coxa vara, generalized metaphyseal irregularities of the tubular bones (including cupping, fraying and splaying) which is more severe in the femur and forearm bones than the metacarpals and phalanges, and vertebral abnormalities including ovoid vertebral bodies with anterior rectangular protrusions, and severe platyspondyly. [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 inhibitors [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-aminobutyric 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	Spondylometaphyseal dysplasia, Czarny-Ratajczak type	None	27,613	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=370019	2021-01-23T16:58:16	{"icd-10": ["Q77.8"]}
Familial chondromalacia patellae is an extremely rare, inherited patellar dysostosis disorder characterized by chondromalacia of the patella associated with patellar pain and dislocation (distal displacement) upon knee extension. Male-to-male transmission is reported. There have been no further descriptions in the literature since 1963. [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 inhibitors [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-aminobutyric 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	Familial chondromalacia patellae	c0008475	27,614	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1428	2021-01-23T18:59:32	{"mesh": ["D046789"], "omim": ["168900"], "icd-10": ["M22.4"]}
Acute lymphoblastic leukemia (ALL) is a type of cancer in which the bone marrow makes too many lymphocytes (a type of white blood cell). It may develop in children or adults. ALL spreads to the blood fairly quickly, and then may spread to other areas of the body such as the lymph nodes, liver, spleen, central nervous system, and testicles (in males). Signs and symptoms of ALL may include fever, easy bruising or bleeding, feeling tired, loss of appetite, pain in the bones or abdomen, and painless lumps in the neck, underarm, stomach, or groin. ALL is typically caused by random, non-inherited changes in the DNA of immature lymphocytes called lymphoblasts. However, some people may inherit a genetic susceptibility to developing ALL. The risk to develop ALL may also be increased by past treatment for cancer, and by having certain genetic conditions or syndromes. Having one or more risk factors does not mean that a person definitely will develop ALL. Treatment of ALL depends on the person's age, how advanced the cancer is, and whether certain genetic changes are found in cancer cells. Treatment options may involve systemic and/or intrathecal chemotherapy, radiation therapy, targeted therapy, and/or a stem cell transplant. Biologic therapy and chimeric antigen receptor (CAR) T-cell therapy are currently being studied as treatment options and may be used when other therapies are not working. The chance of recovery also depends on many factors. With treatment, about 98% of children with ALL go into remission, and 85% of those with first-time ALL are expected have no long-term complications. The chance of recovery for adults is not as high, as 20-40% of adults are cured with current treatments. [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 inhibitors [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-aminobutyric 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	Acute lymphoblastic leukemia	c0023449	27,615	gard	https://rarediseases.info.nih.gov/diseases/522/acute-lymphoblastic-leukemia	2021-01-18T18:02:18	{"omim": ["613065"], "orphanet": ["513"], "synonyms": ["ALL", "Acute lymphocytic leukemia"]}
A number sign (#) is used with this entry because of evidence that coloboma of the optic nerve and morning glory disc anomaly are each caused by mutation in the PAX6 gene (607108). One such patient has been reported for each of the phenotypes. Clinical Features Congenital coloboma of the optic nerve is often associated with serious detachment of the macula. Savell and Cook (1976) observed 15 affected persons in 1 kindred. In 21 of the 30 eyes, present or past detachment of the retina was found. The coloboma was bilateral in all. It appeared as enlargement of the physiologic cup with severely affected eyes showing huge cavities at the site of the disc. A variable amount of glial tissue was present in the coloboma. No male-to-male transmission was observed. It is not certain that this entity is separate from that discussed in 120200. Jonas and Freisler (1997) used the designation 'bilateral congenital optic nerve pits' for this disorder, which they observed in 2 otherwise healthy female monozygotic sibs aged 15 years. In both twins, visual acuity was worse in the eye with the larger optic nerve head. The parents were ophthalmologically unremarkable; there were no other sibs. Retinal detachment extending from the optic disc to the ora serrata in the temporal upper quadrant developed in 1 eye. Hornby et al. (2000) correlated visual function with clinical features and biometric findings in the eyes of children with coloboma. Of the 196 eyes with colobomatous malformations, 11 had microphthalmos with cyst (251505), and 185 eyes had coloboma (associated with microcornea in 155 eyes and with normal corneal diameter in 30 eyes). The visual prognosis depended on the phenotype of the more normal eye. Microphthalmos with cyst had the worst prognosis (all worse than 20/400). Microcornea with microphthalmos had a worse prognosis than microcornea without microphthalmos. For microcornea with microphthalmos, 67% saw worse than 20/400. Of the children with microcornea without microphthalmos, 76% saw better than 20/400. Simple coloboma (without microcornea or microphthalmos) had the best visual prognosis: only 7% saw 20/400 or worse. A corneal diameter of less than 6 mm had a poor visual prognosis, whereas a corneal diameter of more than 10 mm had a good prognosis. Molecular Genetics In a 5-year-old girl with bilateral morning glory disc anomaly and in a 1-year-old boy with iris anomaly, large coloboma of the optic nerve, retina, and choroid (120200), a remnant of hyaloid vessel proliferation (persistent hyperplastic primary vitreous; see 257910) bilaterally, and growth and mental retardation, Azuma et al. (2003) identified missense mutations in the PAX6 gene (607108.0017 and 607108.0019, respectively). Eyes \- Bilateral coloboma of optic nerve \- Retinal detachment Inheritance \- Autosomal dominant \- ? same as 120200 ▲ 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 inhibitors [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-aminobutyric 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	COLOBOMA OF OPTIC NERVE	c0549307	27,616	omim	https://www.omim.org/entry/120430	2019-09-22T16:43:04	{"doid": ["11975"], "omim": ["120430"], "icd-9": ["377.23"], "icd-10": ["H47.319", "H47.31", "Q14.2"], "orphanet": ["35737"]}
Pierson syndrome is a very rare condition that mainly affects the kidneys and eyes. Signs and symptoms include congenital nephrotic syndrome and distinct ocular (eye) abnormalities, including microcoria (small pupils that are not responsive to light). Most affected children have early-onset, chronic renal failure; neurodevelopmental problems; and blindness. Hypotonia (poor muscle tone) and movement disorders have also been reported. Pierson syndrome is caused by changes (mutations) in the LAMB2 gene and is inherited in an autosomal recessive manner. The long-term outlook is poor; affected infants may not survive past the first weeks or months 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 inhibitors [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-aminobutyric 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	Pierson syndrome	c1836876	27,617	gard	https://rarediseases.info.nih.gov/diseases/9420/pierson-syndrome	2021-01-18T17:58:19	{"mesh": ["C537185"], "omim": ["609049"], "umls": ["C1836876"], "orphanet": ["2670"], "synonyms": ["Microcoria - congenital nephrotic syndrome", "Microcoria - congenital nephrosis"]}
Oral cancer includes cancers of the mouth, lips, and oropharynx (the part of the throat at the back of the mouth). Most cases are designated as squamous cell carcinomas because they begin in the flat cells (squamous cells) that cover the surfaces of the mouth, tongue, and lips. About 42,000 individuals in the United Stated are diagnosed with oral cancer each year. Most cases occur in people over age 40. Men are twice as likely to be affected as women. The use of alcohol and/or tobacco is associated with approximately 75 percent of oral cancers. Other risk factors include HPV, a sexually transmitted disease; increasing age; sun exposure; and a poor diet. Treatment for oral cancer may include surgery, radiation therapy, chemotherapy, or targeted therapy. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitors [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-aminobutyric 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	Oral cancer	c0220641	27,618	gard	https://rarediseases.info.nih.gov/diseases/9360/oral-cancer	2021-01-18T17:58:35	{"synonyms": []}
A number sign (#) is used with this entry because axonal Charcot-Marie-Tooth disease type 2L (CMT2L) is caused by mutation in the HSPB8 gene (608014). Distal hereditary motor neuronopathy IIA (HMN2A; 158590) is an allelic disorder with an overlapping phenotype. For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (118210). Mapping In an extensively affected Chinese family, Tang et al. (2004) found linkage of an axonal form of autosomal dominant Charcot-Marie-Tooth disease, designated CMT2L, to a locus on chromosome 12q24. A maximum 2-point lod score of 6.35 and multipoint lod score of 8.08 for marker D12S76 at a recombination of 0.0 strongly supported linkage. Molecular Genetics In affected members of the CMT2L family described by Tang et al. (2004), Tang et al. (2005) sequenced all known exons and intron-exon boundaries of 26 known candidate genes in the 12q24 region and identified a lys141-to-asn substitution in the HSPB8 gene (K141N; 608014.0003). Tang et al. (2005) stated that this was the third time that a gene was shown to be mutant in both Charcot-Marie-Tooth disease and distal hereditary motor neuropathy (dHMN). Dominant mutations in the GARS gene (600287) are associated with CMT2D (601472) and dHMNVA (600794), and dominant mutations in the HSPB1 gene (602195) are associated with CMT2F (606595) and dHMN2B (608634). INHERITANCE \- Autosomal dominant SKELETAL Spine \- Scoliosis Feet \- Pes cavus NEUROLOGIC Peripheral Nervous System \- Distal limb muscle weakness due to peripheral neuropathy \- Distal limb muscle atrophy due to peripheral neuropathy \- Progresses to involve upper distal limb muscles \- Proximal muscle involvement rarely occurs \- Distal sensory impairment \- Hyporeflexia \- Areflexia \- Normal motor nerve conduction velocity (NCV) (greater than 38 m/s) \- Decreased or absent sensory nerve action potentials \- EMG shows denervation and fibrillation potentials \- Nerve biopsy shows axonal neuropathy \- Loss of large myelinated fibers \- Thin myelinated axons MISCELLANEOUS \- Age at onset 15 to 33 years \- Usually begins in feet and legs (peroneal distribution) \- Genetic heterogeneity (see CMT2A 118210 ) MOLECULAR BASIS \- Caused by mutations in the heat-shock 22-kD protein 8 gene (HSPB8, 608014.0003 ) ▲ 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 inhibitors [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-aminobutyric 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	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2L	c3888087	27,619	omim	https://www.omim.org/entry/608673	2019-09-22T16:07:24	{"doid": ["0110174"], "mesh": ["C535416"], "omim": ["608673"], "orphanet": ["99945"], "synonyms": ["Alternative titles", "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2L", "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2L"]}
Although nothing is clearly established about the genetics of this disorder, the occurrence predominantly in blacks is consistent with a genetic basis. As many as 35% of adult blacks may be affected. The disorder is somewhat more frequent in females. The papules occur most typically on the face below the eyes and on the cheeks. Castellani (1925) described and named this disorder, which he found to be very frequent among the blacks of Jamaica and Central America. The lesions are black and dark-brown papules, sometimes cupoliform or at times flattened; they are situated on the face, principally on both malar regions, being rare or absent on the lower parts of the face and chin. Onset is usually about the time of puberty. Butterworth and Strean (1962) expressed the opinion that this condition is merely a variant of seborrheic keratoses that occurs predominantly in blacks. Inheritance \- ? Autosomal dominant Misc \- Occurrence predominantly in blacks Skin \- Black to dark-brown cupoliform or flat facial papules \- ? variant of seborrheic keratoses ▲ 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 inhibitors [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-aminobutyric 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	DERMATOSIS PAPULOSA NIGRA	c0011645	27,620	omim	https://www.omim.org/entry/125600	2019-09-22T16:42:19	{"doid": ["4400"], "mesh": ["C562379"], "omim": ["125600"], "icd-10": ["L82"]}
Spastic gait is a form of gait abnormality. Among the treatment options is chemodenervation.[1] ## Presentation[edit] Asymmetric foot dragging.[2][3] ## Conditions associated with a spastic gait[edit] * Brain tumor * Brain abscess * Sturge-Weber syndrome * Cerebral palsy * Cerebrovascular accident * Multiple sclerosis ## References[edit] 1. ^ Esquenazi A (2004). "Evaluation and management of spastic gait in patients with traumatic brain injury". J Head Trauma Rehabil. 19 (2): 109–18. doi:10.1097/00001199-200403000-00004. PMID 15247822. 2. ^ Medline Plus 3. ^ About Physical Therapy * v * t * e Symptoms and signs relating to movement and gait Gait * Gait abnormality * CNS * Scissor gait * Cerebellar ataxia * Festinating gait * Marche à petit pas * Propulsive gait * Stomping gait * Spastic gait * Magnetic gait * Truncal ataxia * Muscular * Myopathic gait * Trendelenburg gait * Pigeon gait * Steppage gait * Antalgic gait Coordination * Ataxia * Cerebellar ataxia * Dysmetria * Dysdiadochokinesia * Pronator drift * Dyssynergia * Sensory ataxia * Asterixis Abnormal movement * Athetosis * Tremor * Fasciculation * Fibrillation Posturing * Abnormal posturing * Opisthotonus * Spasm * Trismus * Cramp * Tetany * Myokymia * Joint locking Paralysis * Flaccid paralysis * Spastic paraplegia * Spastic diplegia * Spastic paraplegia * Syndromes * Monoplegia * Diplegia / Paraplegia * Hemiplegia * Triplegia * Tetraplegia / Quadruplegia * General causes * Upper motor neuron lesion * Lower motor neuron lesion Weakness * Hemiparesis Other * Rachitic rosary * Hyperreflexia * Clasp-knife response This medical sign 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 inhibitors [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-aminobutyric 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	Spastic gait	c0231687	27,621	wikipedia	https://en.wikipedia.org/wiki/Spastic_gait	2021-01-18T18:46:57	{"mesh": ["D020233"], "umls": ["C0231687"], "icd-10": ["R26.1"], "wikidata": ["Q7573996"]}
Congenital hepatic fibrosis is a disease of the liver that is present from birth. The liver has many important functions, including producing various substances needed by the body and breaking down other substances into smaller parts to be used or eliminated. Congenital hepatic fibrosis is characterized by malformation of the bile ducts and the blood vessels of the hepatic portal system. Bile ducts carry bile (a fluid that helps to digest fats) from the liver to the gallbladder and small intestine. The hepatic portal system is a branching network of veins (portal veins) that carry blood from the gastrointestinal tract to the liver for processing. A buildup of scar tissue (fibrosis) in the portal tracts also occurs in this disorder. Portal tracts are structures in the liver that bundle the vessels through which blood, lymph, and bile flow. Lymph is a fluid that helps exchange immune cells, proteins, and other substances between the blood and tissues. Fibrosis in the portal tracts can restrict the normal movement of fluids in these vessels. Constriction of the portal veins due to malformation and portal tract fibrosis results in high blood pressure in the hepatic portal system (portal hypertension). Portal hypertension impairs the flow of blood from the gastrointestinal tract, causing an increase in pressure in the veins of the esophagus, stomach, and intestines. These veins may stretch and their walls may become thin, leading to a risk of abnormal bleeding. People with congenital hepatic fibrosis have an enlarged liver and spleen (hepatosplenomegaly). The liver is also abnormally shaped. Affected individuals also have an increased risk of infection of the bile ducts (cholangitis), hard deposits in the gallbladder or bile ducts (gallstones), and cancer of the liver or gallbladder. Congenital hepatic fibrosis may occur alone, in which case it is called isolated congenital hepatic fibrosis. More frequently, it occurs as a feature of genetic syndromes that also affect the kidneys, such as polycystic kidney disease (PKD). ## Frequency Isolated congenital hepatic fibrosis is rare. Its prevalence is unknown. The total prevalence of syndromes that include congenital hepatic fibrosis as a feature is estimated to be 1 in 10,000 to 20,000 individuals. ## Causes Syndromes that include congenital hepatic fibrosis may be caused by changes in many different genes. The gene changes that cause isolated congenital hepatic fibrosis are unknown. Congenital hepatic fibrosis is caused by problems in the development of the portal veins and bile ducts before birth. These problems include malformation of embryonic structures called ductal plates. Each ductal plate is a cylinder of cells surrounding branches of the portal veins. The ductal plates normally develop into the network of bile ducts. In congenital hepatic fibrosis, the development of the ductal plates does not proceed normally, and the bile ducts remain immature. Branching of the portal vein network also proceeds abnormally, and excess fibrous tissue develops in the portal tracts. The malformation of the portal veins and bile ducts disrupts the normal flow of blood and bile, which leads to the progressive signs and symptoms of congenital hepatic fibrosis. ## Inheritance Pattern The various syndromes that include congenital hepatic fibrosis can have different inheritance patterns. Most of these disorders are inherited in an autosomal recessive pattern, which means both copies of the associated 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. Rare syndromes involving congenital hepatic fibrosis may be inherited in an X-linked recessive pattern, in which the gene associated with the syndrome is located on the X chromosome, which is one of the two sex chromosomes. In isolated congenital hepatic fibrosis, the inheritance pattern 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 inhibitors [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-aminobutyric 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	Congenital hepatic fibrosis	c0085548	27,622	medlineplus	https://medlineplus.gov/genetics/condition/congenital-hepatic-fibrosis/	2021-01-27T08:24:48	{"gard": ["6168"], "mesh": ["D017044"], "omim": ["263200"], "synonyms": []}
Episodic dyscontrol syndrome SpecialtyPsychiatry Episodic dyscontrol syndrome (EDS), otherwise known as intermittent explosive disorder (IED)[1] or sometimes just dyscontrol, is a pattern of abnormal, episodic, and frequently violent and uncontrollable social behavior[2] in the absence of significant provocation;[3] it can result from limbic system diseases, disorders of the temporal lobe,[4] or abuse of alcohol or other psychoactive substances.[5][6] EDS is a clearly identified category in the Diagnostic and Statistical Manual of Mental Disorders (DSM IV).[7] EDS may affect children or adults.[8][9][10] Children are often considered to have epilepsy or a mental health problem. The episodes consist of recurrent attacks of uncontrollable rage, usually after minimal provocation, and may last up to an hour. Following an episode, children are frequently exhausted, may sleep and will usually have no recall.[11] ## Contents * 1 Cause * 2 Treatment * 3 Legal implications * 4 See also * 5 References * 6 External links ## Cause[edit] This section is empty. You can help by adding to it. (March 2018) ## Treatment[edit] Treatment for EDS usually involves treating the underlying causative factor(s). This may involve psychotherapy, or medical treatment for diseases.[12] EDS has been successfully controlled in clinical trials using prescribed medications, including carbamazepine,[13][14] ethosuximide,[15] and propranolol.[16] There have been few randomised controlled trials of treatment of EDS/IED. Antidepressants and mood-stabilisers including lithium, sodium valproate and carbamazepine have been used in adults, and occasionally in children with oppositional defiant disorder or conduct disorder to reduce aggression. Cognitive behavioural therapy (CBT) is effective in the treatment of anger. A recent trial randomised adults with IED to 12 weeks of individual therapy, group therapy or waiting list (no therapy). Intervention resulted in an improvement in anger and aggression levels, with no difference between group and individual CBT (Cognitive behavioural therapy). Adolescents and young adults may experience educational and social consequences but also mental health problems, including parasuicide, if IED/EDS is undiagnosed in early childhood.[17] ## Legal implications[edit] A diagnosis of EDS has been used as a defense in court for persons accused of committing violent crimes including murder.[18][19][20] ## See also[edit] * Intermittent explosive disorder ## References[edit] 1. ^ McTague, A.; Appleton, R. (1 June 2010). "Episodic dyscontrol syndrome". Archives of Disease in Childhood. 95 (10): 841–842. doi:10.1136/adc.2009.171850. PMID 20515972. ProQuest 1828696754. 2. ^ Elliott FA. (1984) The episodic dyscontrol syndrome and aggression. Neurologic Clinics 2: 113–25. 3. ^ Maletzky BM. (1973) The episodic dyscontrol syndrome. Disorders of the Nervous System 34: 178–85. 4. ^ Tebartz van Elst, Dr. L.; F. G. Woermann; L. Lemieux; P. J. Thompson; M. R. Trimble (February 2000). "Affective aggression in patients with temporal lobe epilepsy A quantitative MRI study of the amygdala". Brain. Oxford UK: Oxford University Press. 123 (2): 234–243. doi:10.1093/brain/123.2.234. PMID 10648432. 5. ^ Drake ME, Hietter SA, Pakalnis A. (1992) EEG and evoked potentials in episodic-dyscontrol syndrome. Neuropsychobiology 26: 125–8. 6. ^ Harbin HT. (1977) Episodic dyscontrol and family dynamics. American Journal of Psychiatry 134: 1113–6. 7. ^ McTague, A.; Appleton, R. (1 June 2010). "Episodic dyscontrol syndrome". Archives of Disease in Childhood. 95 (10): 841–842. doi:10.1136/adc.2009.171850. PMID 20515972. ProQuest 1828696754. 8. ^ Nunn K. (1986) The episodic dyscontrol syndrome in childhood. Journal of Child Psychology and Psychiatry 27: 439–46. 9. ^ Bach-y-Rita G, Lion JR, Climent CE, Ervin FR. (1971) Episodic (1986) dyscontrol: a study of 130 violent patients. American Journal of Psychiatry 127: 49–54. 10. ^ Elliott FA. (1982) Neurological findings in adult minimal brain dysfunction and the dyscontrol syndrome. Journal of Nervous and Mental Disease 170: 680–7. 11. ^ McTague, A.; Appleton, R. (1 June 2010). "Episodic dyscontrol syndrome". Archives of Disease in Childhood. 95 (10): 841–842. doi:10.1136/adc.2009.171850. PMID 20515972. ProQuest 1828696754. 12. ^ McTague, A.; Appleton, R. (1 June 2010). "Episodic dyscontrol syndrome". Archives of Disease in Childhood. 95 (10): 841–842. doi:10.1136/adc.2009.171850. PMID 20515972. 13. ^ Tunks ER, Dermer SW. (1977) Carbamazepine in the dyscontrol syndrome associated with limbic system dysfunction. Journal of Nervous and Mental Disease 164: 56–63. 14. ^ Lewin J, Sumners D. (1992) Successful treatment of episodic dyscontrol with carbamazepine. British Journal of Psychiatry 161: 261–2. 15. ^ Andrulonis PA, Donnelly J, Glueck BC, Stroebel CF, Szarek BL. (1990) Preliminary data on ethosuximide and the episodic dyscontrol syndrome. American Journal of Psychiatry 137: 1455–6. 16. ^ Grizenko N, Vida S. (1988) Propranolol treatment of episodic dyscontrol and aggressive behaviour in children. Canadian Journal of Psychiatry 33: 776–8. 17. ^ McTague, A.; Appleton, R. (1 June 2010). "Episodic dyscontrol syndrome". Archives of Disease in Childhood. 95 (10): 841–842. doi:10.1136/adc.2009.171850. PMID 20515972. ProQuest 1828696754. 18. ^ Myers WC, Vondruska MA. (1998) Murder, minors, selective serotonin reuptake inhibitors, and the involuntary intoxication defence. Journal of the American Academy of Psychiatry and the Law 26: 487–96. 19. ^ Simon, Robert I. (1990-12-01). "A Canadian Perspective (p. 392)". Review of Clinical Psychiatry and the Law (Hardback) (Version 2 ed.). Arlington: American Psychiatric Pub, Inc. p. 424. ISBN 0-88048-376-8. "The decision in a case concerning episodic dyscontrol syndrome seems to have expanded the definition of "diseases of the mind". In R. v. Butler, the accused had a history of injuries to the head. He was charged with aggravated assault of his wife's infant son. The child had been badly beaten on the head, and the accused, while admitting that he was alone at home with the child, had no memory of beating the child on the head. The medical history of the accused was brought forward at the trial, and a neurologist ventured the opinion that he sufferred from episodic dyscontrol syndrome, entailing an interruption of normal control mechanisms. His other violent acts were symptomatic. In the court decision, it was noted that disease of the mind had both a legal and medical component." 20. ^ Tiffany, Lawrence P.; Tiffany, Mary (1990-09-11). "5". The Legal Defense of Pathological Intoxication With Related Issues of Temporary and Self-Inflicted Insanity (Hardcover). New York: Quorum Books. pp. 560. doi:10.1336/0899305482. ISBN 0-89930-548-2. ## External links[edit] * Dorland's Medical Dictionary [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 inhibitors [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-aminobutyric 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	Episodic dyscontrol syndrome	None	27,623	wikipedia	https://en.wikipedia.org/wiki/Episodic_dyscontrol_syndrome	2021-01-18T19:08:42	{"wikidata": ["Q5383564"]}
Caresano and Borghi (1966) described microcolon in 2 newborn males of an Italian family. Microcolon occurs with agangliosis of the entire colon and part of the small intestine and with obstruction of the small intestine as in congenital atresia or meconium ileus. Thus, a familial aggregation of microcolon might result from the well-known occurrence of meconium ileus with cystic fibrosis of the pancreas. Lee and MacMillan (1950) claimed that it can rarely be considered a primary entity. INHERITANCE \- Autosomal recessive ABDOMEN Gastrointestinal \- Microcolon ▲ 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 inhibitors [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-aminobutyric 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	MICROCOLON	c0266200	27,624	omim	https://www.omim.org/entry/251400	2019-09-22T16:25:10	{"mesh": ["C562563"], "omim": ["251400"], "icd-10": ["Q43.8"]}
Abortion in Turkey is legal until the 10th week after the conception. It can be extended if there is an endangerment to the woman's life or the life of the fetus. During the ten weeks, an abortion is allowed for the following reasons: the pregnancy threatens the woman's mental and/or physical health, the fetus would be physically or mentally impaired, if the conception occurred through rape or incest, and economic or social reasons. The woman's consent is required. If the woman is under the age of 18, then parental consent is required. If the woman is married, the consent of the husband is also required. Single women over the age of 18 can choose to have an abortion on their own.[1] Despite issues, the understanding and education about abortion has improved, and the procedure has become safer since its legalization in 1983. The legalization followed a period of high mortality rates among pregnant women seeking unsafe abortions due to the lack of access to the legal, professional procedure. ## Contents * 1 History * 2 Protest * 3 Issues with Public Hospitals * 4 See also * 5 References * 6 Further reading ## History[edit] In 1983, abortion was legalized in Turkey (it was passed in 1982 during a military government).[2] In the past, abortions would happen in secret and were usually done in harmful and unsafe ways. Finally, in 1983 Turkey decided to legalize abortions, as they do in Tunisia, during the first trimester no matter what circumstances the mother faces. Out of all the countries in the Middle East region, Turkey and Tunisia are the only two countries in this region that allow abortions under any circumstances during the first trimester. The rest of the Middle East only allows abortions if it affects the health of the woman.[3] Because abortions were done in secret, they were done in harmful ways. It was one of the major reasons for the death of women at this time. Statistics show that deaths of women caused by harmful abortion methods stood at 50% in the 1950s.[4] Also, in 1974, there were "208 maternal deaths for every 100,000 births."[3] ## Protest[edit] In 2012, thousands of people went out to protest against the anti-abortion law plan that the then prime minister, Recep Tayyip Erdoğan, had in mind. A total of around 3,000-4,000 protesters went out to voice their opinions and speak against Erdoğan's decision. His decision angered many after giving two speeches against abortion and cesarean births, causing the protest. The protest included women of all ages and they held banners including phrases such as, "My body, my choice" and "I am a woman not a mother, don't touch my body."[5] ## Issues with Public Hospitals[edit] Thanks to the legalization of abortions, the number of maternal deaths caused by unsafe abortions is only 2% as opposed to the 50% in the 1950s.[4] Also, in 2013, the number of maternal deaths was reduced to "20 maternal deaths for every 100,000 births" as opposed to the 208 in 1974. Although this holds true and abortions are legal, being able to get non-emergency terminations at public hospitals is difficult. It's shown that "only three out of thirty-seven public hospitals in the country" are allowing non-emergency terminations. A law in 2012 came up that stated doctors had the right to refuse to perform abortions if that's what their conscience is telling them and could make waiting periods that would be mandatory. The law didn't pass, but the influence and idea of it has caused health professionals to enact it on their own anyway. They are making it difficult form these women to get abortions. Some hospitals have created a policy to inform fathers of the pregnancy of their daughters. There are also some that don't allow abortion services if the woman isn't married or she is more than six weeks pregnant, although the law allows for abortions no matter the circumstance up until the tenth week of pregnancy.[3] ## See also[edit] * Abortion * Abortion by country * Abortion law ## References[edit] 1. ^ "Angloinfo". Angloinfo. Angloinfor. Retrieved 2016-05-03. 2. ^ Gürsoy, Aki̇le (February 1996). "Abortion in Turkey: A matter of state, family or individual decision". Social Science & Medicine. 42 (4): 531–542. doi:10.1016/0277-9536(95)00176-X. PMID 8643979. 3. ^ a b c Cavallo, Shena (2015-02-17). "Access to Abortion: No Laughing Matter". International Women's Health Coalition. International Women's Health Coalition. Retrieved 2016-05-03. 4. ^ a b Letsch, Constanze (2015-02-04). "Istanbul Hospitals Refuse Abortions as Government's Attitude Hardens". The Guardian. Guardian News and Media. Retrieved 2016-05-03. 5. ^ "Thousands protest at Turkey anti-abortion law plan". Reuters. Reuters. 2012-06-03. Retrieved 2016-04-27. ## Further reading[edit] * Sümer, Sevil; Eslen-Ziya, Hande (February 2017). "New waves for old rights? Women's mobilization and bodily rights in Turkey and Norway". European Journal of Women's Studies. Sage. 24 (1): 23–38. doi:10.1177/1350506815619878. * v * t * e Abortion in Europe Sovereign states * Albania * Andorra * Armenia * Austria * Azerbaijan * Belarus * Belgium * Bosnia and Herzegovina * Bulgaria * Croatia * Cyprus * Czech Republic * Denmark * Estonia * Finland * France * Georgia * 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 * Turkey * Ukraine * United Kingdom * England * Northern Ireland * Scotland * Wales * Vatican City States with limited recognition * Abkhazia * Artsakh * Kosovo * Northern Cyprus * South Ossetia * Transnistria * v * t * e Abortion in Asia Sovereign states * Afghanistan * Armenia * Azerbaijan * Bahrain * Bangladesh * Bhutan * Brunei * Cambodia * China * Cyprus * East Timor (Timor-Leste) * 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* 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 [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 inhibitors [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-aminobutyric 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	Abortion in Turkey	None	27,625	wikipedia	https://en.wikipedia.org/wiki/Abortion_in_Turkey	2021-01-18T18:53:14	{"wikidata": ["Q4668502"]}
Myostatin-related muscle hypertrophy is a rare condition characterized by reduced body fat and increased muscle size. Affected individuals have up to twice the usual amount of muscle mass in their bodies. They also tend to have increased muscle strength. This condition is not known to cause any medical problems, and affected individuals are intellectually normal. Myostatin-related muscle hypertrophy is caused by mutations in the MSTN gene. It follows an incomplete autosomal dominant 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 inhibitors [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-aminobutyric 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	Myostatin-related muscle hypertrophy	c2931112	27,626	gard	https://rarediseases.info.nih.gov/diseases/10238/myostatin-related-muscle-hypertrophy	2021-01-18T17:58:49	{"mesh": ["C536106"], "omim": ["601788"], "umls": ["C2931112"], "synonyms": []}
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Find sources: "Abdominal chemodectomas with cutaneous angiolipomas" – news · newspapers · books · scholar · JSTOR (November 2020) (Learn how and when to remove this template message) Abdominal chemodectomas with cutaneous angiolipomas SpecialtyDermatology Abdominal chemodectomas with cutaneous angiolipomas is a skin disease that presents with angiolipomas in the skin and chemodectomas.[1] It is inherited in an autosomal dominant manner.[1] ## References[edit] 1. ^ a b "Abdominal chemodectomas with cutaneous angiolipomas \| Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 May 2018. This Dermal and subcutaneous growths 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 inhibitors [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-aminobutyric 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	Abdominal chemodectomas with cutaneous angiolipomas	c2930928	27,627	wikipedia	https://en.wikipedia.org/wiki/Abdominal_chemodectomas_with_cutaneous_angiolipomas	2021-01-18T18:48:48	{"gard": ["1265"], "mesh": ["C535552"], "umls": ["C2930928", "C1861667"], "wikidata": ["Q55603069"]}
An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability. [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 inhibitors [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-aminobutyric 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	Aphalangy-syndactyly-microcephaly syndrome	c1838161	27,628	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1113	2021-01-23T17:25:32	{"gard": ["748"], "mesh": ["C563942"], "omim": ["600384"], "umls": ["C1838161"], "icd-10": ["Q87.2"]}
Grey Turner's sign Grey Turner's sign Differential diagnosisAcute pancreatitis, ectopic pregnancy Grey Turner's sign refers to bruising of the flanks, the part of the body between the last rib and the top of the hip. The bruising appears as a blue discoloration,[1] and is a sign of retroperitoneal hemorrhage, or bleeding behind the peritoneum, which is a lining of the abdominal cavity. Grey Turner's sign takes 24–48 hours to develop, and can predict a severe attack of acute pancreatitis.[2] Grey Turner's sign may be accompanied by Cullen's sign. Both signs may be indicative of pancreatic necrosis with retroperitoneal or intra-abdominal bleeding. Grey Turner's sign is named after British surgeon George Grey Turner.[3] ## Contents * 1 Causes * 2 History * 3 References * 4 External links ## Causes[edit] Causes include * Acute pancreatitis, whereby methemalbumin formed from digested blood tracks subcutaneously around the abdomen from the inflamed pancreas. * Pancreatic hemorrhage[1] * Retroperitoneal hemorrhage[1] * Blunt abdominal trauma * Ruptured / hemorrhagic ectopic pregnancy. * Spontaneous bleeding secondary to coagulopathy (congenital or acquired) * Aortic rupture, from ruptured abdominal aortic aneurysm or other causes.[1] ## History[edit] It is named after British surgeon George Grey Turner.[3][4] ## References[edit] 1. ^ a b c d Goldman, Lee (2012). Goldman's Cecil Medicine (24th ed.). Philadelphia: Elsevier Saunders. p. 837. ISBN 978-1437727883. 2. ^ Bosmann M, Schreiner O, Galle PR (April 2009). "Coexistence of Cullen's and Grey Turner's signs in acute pancreatitis". Am. J. Med. 122 (4): 333–4. doi:10.1016/j.amjmed.2008.08.032. PMID 19332225. 3. ^ a b synd/3347 at Who Named It? 4. ^ Turner, G. Grey (1919). "Local discoloration of the abdominal wall as a sign of acute pancreatitis". British Journal of Surgery. 7 (27): 394–395. doi:10.1002/bjs.1800072711. S2CID 72710780. ## External links[edit] Classification D * DiseasesDB: 17313 * v * t * e Symptoms and signs relating to the human digestive system or abdomen Gastrointestinal tract * Nausea * Vomiting * Heartburn * Aerophagia * Pagophagia * Dysphagia * oropharyngeal * esophageal * Odynophagia * Bad breath * Xerostomia * Hypersalivation * Burping * Wet burp * Goodsall's rule * Chilaiditi syndrome * Dance's sign * Aaron's sign * Arapov's sign * Markle sign * McBurney's point * Sherren's triangle * Radiologic signs: Hampton's line * Klemm's sign Accessory * liver: Councilman body * Mallory body * biliary: Boas' sign * Courvoisier's law * Charcot's cholangitis triad/Reynolds' pentad * cholecystitis (Murphy's sign * Lépine's sign * Mirizzi's syndrome) * Nardi test Defecation * Flatulence * Fecal incontinence * Encopresis * Fecal occult blood * Rectal tenesmus * Constipation * Obstructed defecation * Diarrhea * Rectal discharge * Psoas sign * Obturator sign * Rovsing's sign * Hamburger sign * Heel tap sign * Aure-Rozanova's sign * Dunphy sign * Alder's sign * Lockwood's sign * Rosenstein's sign Abdomen Pain * Abdominal pain * Acute abdomen * Colic * Baby colic * Abdominal guarding * Blumberg sign Distension * Abdominal distension * Bloating * Ascites * Tympanites * Shifting dullness * Ascites * Fluid wave test Masses * Abdominal mass * Hepatosplenomegaly * Hepatomegaly * Splenomegaly Other * Jaundice * Mallet-Guy sign * Puddle sign * Ballance's sign * Aortic insufficiency * Castell's sign * Kehr's sign * Cullen's sign * Grey Turner's sign Hernia * Howship–Romberg sign * Hannington-Kiff sign Other * Cupola sign * Fothergill's sign * Carnett's sign * Sister Mary Joseph nodule * v * t * e General wounds and injuries Abrasions * Abrasion * Avulsion Blisters * Blood blister * Coma blister * Delayed blister * Edema blister * Fracture blister * Friction blister * Sucking blister Bruises * Hematoma/Ecchymosis * Battle's sign * Raccoon eyes * Black eye * Subungual hematoma * Cullen's sign * Grey Turner's sign * Retroperitoneal hemorrhage Animal bites * Insect bite * Spider bite * Snakebite Other: * Ballistic trauma * Stab wound * Blunt trauma/superficial/closed * Penetrating trauma/open * Aerosol burn * Burn/Corrosion/Chemical burn * Frostbite * Occupational injuries * Traumatic amputation By region * Hand injury * Head injury * Chest trauma * Abdominal trauma [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 inhibitors [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-aminobutyric 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	Grey Turner's sign	c0232799	27,629	wikipedia	https://en.wikipedia.org/wiki/Grey_Turner%27s_sign	2021-01-18T19:05:57	{"wikidata": ["Q1166878"]}
Japanese encephalitis is an arboviral disease (i.e. a disease due to a virus transmitted by an arthropod). ## Epidemiology The estimated annual incidence of the disease is 1/160 000 but it is 20 times higher in endemic areas. It mainly occurs in rural areas of China, Korea and Japan, in sub-tropical regions of Asia, and in some regions of Oceania. Imported cases are exceptional. The disease is symptomatic in 1-20/1000 infections, and children and young adults are predominantly affected. ## Clinical description After an incubation period of four to 14 days, infected individuals present with signs ranging from moderate with a headache and low-grade fever to more severe infection with high fever, meningeal syndrome (neck stiffness, vomiting), disorientation and sometimes tremors or coma. ## Etiology The disease is caused by a flavivirus spread by wild birds, amplified by domestic pigs, and transmitted to humans mainly by a mosquito of the genus Culex. ## Management and treatment There is no specific treatment, but intensive supportive therapy should be provided. A vaccine is available, but its prescription should be adapted to each case and depends on the risks of transmission when travelling to endemic areas (length of the stay, transmission season, visits to rural areas). ## Prognosis The disease, when it is symptomatic, can leave neurological sequelae and leads to death in 25 to 30% of the cases. [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 inhibitors [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-aminobutyric 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	Japanese encephalitis	c0014057	27,630	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79139	2021-01-23T18:34:26	{"gard": ["6797"], "mesh": ["D004672"], "umls": ["C0014057"], "icd-10": ["A83.0"]}
A number sign (#) is used with this entry because hereditary nonpolyposis colorectal cancer-5 (HNPCC5) is caused by heterozygous mutation in the MSH6 gene (600678) on chromosome 2p16. Description Hereditary nonpolyposis colorectal cancer type 5 is a cancer predisposition syndrome characterized by onset of colorectal cancer and/or extracolonic cancers, particularly endometrial cancer, usually in mid-adulthood. The disorder shows autosomal dominant inheritance with incomplete penetrance (summary by Castellsague et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of hereditary nonpolyposis colorectal cancer (HNPCC), see HNPCC1 (120435). Clinical Features Miyaki et al. (1997) reported a family with HNPCC5. The proband had adult-onset colorectal carcinoma and endometrial carcinoma, and her sister had endometrial carcinoma. Other sisters who had had endometrial or ovarian carcinoma were assumed to have the same germline MSH6 mutation, as it was detected in their offspring. Although this family did not fulfill the Amsterdam criteria, patients in the family had colonic, endometrial, ovarian, and pancreatic carcinomas. Miyaki et al. (1997) considered it noteworthy that endometrial and ovarian carcinomas were predominant in this family. Wijnen et al. (1999) found that atypical HNPCC families with MSH6 mutations displayed a very high frequency of atypical hyperplastic lesions and carcinomas of the endometrium: 73% in female MSH6 mutation carriers compared with 29% in MSH2 and 31% in MLH1 carriers. Moreover, delayed age of cancer onset and incomplete penetrance were characteristic clinical features of the MSH6 mutation carriers. The results indicated that tumors of the endometrium (608089) represent the most common clinical manifestation of HNPCC among female MSH6 mutation carriers and that colorectal cancer cannot be considered an obligatory requisite to define HNPCC. Wagner et al. (2001) found that colorectal cancer was significantly decreased in a large Dutch family with atypical HNPCC and an MSH6 mutation compared to families with mutations in MSH2 (609309) or MLH1 (120436) (p less than 0.001). Endometrial cancer was frequent among female mutation carriers (6 of 13 malignant tumors), and transitional cell carcinoma of the urinary tract was present in 10% of male and female carriers. The mean age of onset of colorectal and endometrial cancer was delayed compared to that in families with MSH2 or MLH1 mutations. Suchy et al. (2002) described a Polish MSH6 family in which a late-onset endometrial type of ovarian cancer was a feature. In the proband, bilateral ovarian cancer was discovered at the age of 49 years. The father died of colon cancer at the age of 83 years and her paternal grandmother died of endometrial cancer at the age of 69 years. Endometrial cancer was diagnosed at the age of 57 years in a cousin. Ovarian cancer had been reported in an MSH6 family by Wagner et al. (2001). In a retrospective U.S. population-based study, Kastrinos et al. (2009) found 3 cases of pancreatic cancer among 11 families with MSH6 mutations. Although the numbers were too small to calculate a risk estimate, the authors concluded that pancreatic cancer is a component of HNPCC. Castellsague et al. (2015) reported 11 families of French Canadian descent from Quebec with HNPCC5. The average age at diagnosis was 44.2 years, and tumors fell within the HNPCC spectrum, but included mainly colorectal and endometrial cancer. Other rare tumors included breast cancer, cervical cancer, ovarian cancer, stomach cancer, and non-Hodgkin lymphoma. Among all families, 8 (73%) of 11 affected carrier females had endometrial cancer, suggesting that this is a typical presenting MSH6-related cancer in women. Diagnosis Wijnen et al. (1999) found that 7 of 10 germline mutations in MSH6 had been identified in atypical HNPCC families not fulfilling the Amsterdam criteria. Among 33 cancer families with proven mutations in the MSH6 gene, Sjursen et al. (2010) found that the sensitivity for diagnostic criteria using the original Amsterdam guidelines, the revised Amsterdam guidelines, and the Bethesda II guidelines were inadequate for detecting potential MSH6 mutation carriers. The sensitivities using these guidelines were less than 50%. Sjursen et al. (2010) suggested that MSH6 mutations may be more common than currently assumed. Inheritance Buttin et al. (2004) studied the penetrance and expressivity of MSH6 mutations in kindreds ascertained through endometrial cancer probands unselected for family history. MSH6 mutation status was determined for 59 family members. Of these 59 individuals, 19 (32%) had confirmed cancers or precancers. There was an excess of mutation carriers among the 19 affected family members (11/19, 58%) compared with those among the 40 unaffecteds (8/40, 20%), giving an odds ratio of 5.5. Overall estimated penetrance of the MSH6 mutations was 57.7%. The transmission pattern of HNPCC5 in the families reported by Castellsague et al. (2015) was consistent with autosomal dominant inheritance and incomplete penetrance. Molecular Genetics In the HCT-15 colorectal cancer cell line, Papadopoulos et al. (1995) identified a truncating mutation in the MSH6 gene (600678.0001). In an HNPCC5 family, Miyaki et al. (1997) identified a heterozygous germline truncating mutation in the MSH6 gene (600678.0004). In addition to the germline mutation, somatic mutations of MSH6 were detected in colorectal and endometrial carcinomas from the proband in this family. These somatic mutations were presumably in the alleles without the germline mutation, suggesting that inactivation of both alleles of MSH6 was the cause of the phenotype and the stimulus for neoplasia. In 11 probands of French Canadian descent in the Province of Quebec with HNPCC5, Castellsague et al. (2015) identified a heterozygous nonsense mutation in the MSH6 gene (Q4X; 600678.0018). Analysis of 27 additional family members indicated that the mutation cosegregated with cancer in 15 of 23 carriers, consistent with incomplete penetrance. Heterozygous carriers had an average age of cancer diagnosis at 44.2 years; 1 homozygous carrier had onset at age 10 years. All evaluable tumors showed loss of MSH6 protein and microsatellite instability (MSI); no loss of heterozygosity (LOH) was identified in any of the evaluated tumors, but the authors suggested that the gene was likely inactivated by point mutations or deletions. Analysis of this mutation among a larger population-based cohort of French Canadians showed that only 1 of 187 patients with colorectal cancer had the mutation, whereas 7 of 381 patients with endometrial cancer carried the mutation, yielding an odds ratio (OR) of 7.5 (p less than 0.0001). Population Genetics In the French Canadian population in Quebec, Castellsague et al. (2015) found evidence of a founder effect of the Q4X MSH6 mutation (600678.0018). Haplotype analysis estimated that the mutation occurred about 513 years ago. The carrier rate in this population was estimated at about 1 in 400. INHERITANCE \- Autosomal dominant NEOPLASIA \- Increased risk of colorectal cancer \- Increased risk of endometrial cancer \- Increased risk of cancer LABORATORY ABNORMALITIES \- Tumor cells show microsatellite instability MISCELLANEOUS \- Incomplete penetrance \- Cancer onset usually in mid-adulthood MOLECULAR BASIS \- Caused by mutation in the mutS homolog 6 gene (MSH6, 600678.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5	c1333990	27,631	omim	https://www.omim.org/entry/614350	2019-09-22T15:55:34	{"doid": ["0070272"], "mesh": ["D003123"], "omim": ["614350"], "orphanet": ["144"]}
A nonspecific type of familial presenile dementia apparently distinct from both Alzheimer disease (104300) and Pick disease (172700) was described by Schaumburg and Suzuki (1968) in 6 persons in 3 generations with male-to-male transmission. The histologic changes corresponded to those described for Kraepelin disease ('catatonia of Kraepelin'). In 4 of the 6 persons, onset was at a very early age: 28, 31, 33 and 34 years. Misc \- Onset as early as age 28 Neuro \- Nonspecific presenile dementia \- Catatonia 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 inhibitors [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-aminobutyric 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	PRESENILE DEMENTIA, KRAEPELIN TYPE	c1867772	27,632	omim	https://www.omim.org/entry/176600	2019-09-22T16:35:42	{"mesh": ["C535273"], "omim": ["176600"]}
T-cell lymphoma Micrograph of an enteropathy-associated T-cell lymphoma (upper right of image), a type of T-cell lymphoma. H&E stain. SpecialtyHematology and oncology Symptomsswollen lymph nodes, fevers, enlarged liver or spleen, liver dysfunction, rash Risk factorsAutoimmune Disorders, Epstein Barr virus (EBV), Human T-cell leukemia virus-1 (HTLV1), Organ transplants, immunosuppressant therapy Treatmentchemotherapy, radiotherapy, stem cell transplant T-cell lymphoma is a rare form of cancerous lymphoma affecting T-cells. [1]Lymphoma arises mainly from the uncontrolled proliferation of T-cells and can become cancerous. [2] T-cell lymphoma is categorized under Non-Hodgkin Lymphoma (NHL) and represents less than 15% of all Non-Hodgkin's diseases in the category. [3] T-cell lymphomas are often categorised based on their growth patterns as either; aggressive (fast-growing) or indolent (slow-growing).[1] Although the cause of T-cell lymphoma is not definitive, it has been associated with various risk factors and viruses such as Epstein Barr virus (EBV) and Human T-cell leukemia virus-1 (HTLV1).[2] The prognosis and treatment of T-cell lymphoma can vary drastically based on the specific type of lymphoma and its growth patterns. Due to their rarity and high variability between the different subtypes, the prognosis of T-cell lymphoma is significantly worse than other Non-Hodgkin lymphoma.[1] The treatment of T-cell lymphoma is often similar to other Non-Hodgkin lymphomas with early-stage treatments consisting of chemotherapy and/or radiology.[2] The effectiveness of these treatments is often varied between subtypes with most receiving a poor outcome with high relapse rates.[4] ## Contents * 1 Types * 1.1 Common * 1.2 Rare * 2 Epidemiology * 3 Cause * 3.1 Risk Factors * 4 Symptoms * 4.1 The hemophagocytic syndrome (HPS) * 4.2 Swollen Lymph nodes * 4.3 Skin Infections * 5 Diagnosis * 6 Treatment * 6.1 Chemotherapy * 6.2 Radiotherapy * 6.3 Stem Cell Transplant * 6.4 Monoclonal Antibodies * 6.5 Nucleoside analogs * 6.6 Other * 7 See also * 8 References ## Types[edit] There are many types and variations of T-cell lymphoma, each with vastly different symptoms, survival, and prognosis. The classification of T-cell lymphoma has been difficult to accomplish due to the lack of understanding of their biology.[4] Most classifications are basic with many still under the title of ‘provisional categories’ in the World Health Organisation Classification of disease. [5] ### Common[edit] * Peripheral T-cell lymphoma, not otherwise specified (PTCL-NOS): Most common type of Peripheral T-cell lymphoma (PTCL), comprising subtypes which cannot be classified as either nodal, extra-nodal, or leukemic * Angioimmunoblastic T-cell lymphoma (AITL): Aggressive form of T-cell lymphoma. * Anaplastic large cell lymphoma (ALCL): Can occur as systemic ALCL which is aggressive or cutaneous ALCL which tends to be more indolent. * Anaplastic Lymphoma Kinase (ALK)-negative * Anaplastic Lymphoma Kinase (ALK)-positive * Adult T-cell leukemia/lymphoma (ATL): Aggressive T-cell lymphoma, associated with RNA retrovirus, human T-cell leukemia virus type-1 (HTLV1) * Extranodal NK/T-cell lymphoma, nasal type (ENKTL): Aggressive T-cell lymphoma, usually associated with Epstein Barr virus (EBV) * Cutaneous T-cell lymphoma (CTCL): can be insolent or aggressive * Mycosis fungoides * Sézary syndrome ### Rare[edit] * Subcutaneous panniculitis-like T-cell lymphoma (SPTCL): * Cutaneous gamma-delta T-cell lymphoma (CGD-TCL) * Systemic Epstein Barr virus-positive T-Cell Lymphoproliferative Disorders of Childhood (EBVTCLD): A very aggressive group with association with Epstein Barr virus (EBV) * Primary intestinal T-cell lymphomas * Enteropathy-associated T-cell lymphoma (EATL) * Monomorphic epitheliotropic intestinal T cell lymphoma (MEITL). * Hepatosplenic T-cell lymphoma (HSTCL) ## Epidemiology[edit] While the incidences for Non-Hodgkin's lymphoma has plateaued, the rates of T-cell lymphoma has been gradually increasing over the past few years. However, due to the low frequency and lack of research performed on the disease, the number of cases is relatively underrepresented compared to other non-Hodgkin lymphoma.[3] Cases are more common in those of Native American descent followed by Caucasian ancestry,[2] however, the epidemiology can vary greatly between the different subtypes. The incidences of T-cell lymphoma are slightly higher in men than in women in all categories of race[6] with cases increasing in frequency with age for most subtypes.[2] In Asia, T/NK-cell neoplasms are more common as a result of host factors and the higher prevalence of Human T-cell leukemia virus-1 (HTLV1) and Epstein Barr virus (EBV). While Enteropathy-associated T-cell lymphoma (EATCL) is more common among Irish and Welsh populations.[2] ## Cause[edit] Although there is no definitive cause for most T-cell lymphoma subtypes, a series of risk factors have been linked and associated with the increased likelihood of contracting the disease. ### Risk Factors[edit] Family History: A family history of hematopoietic malignancies has been linked to an increased association with most T-cell lymphoma subtypes. This link is especially elevated among individuals 50 years or younger.[2] However, the link is still considered as a hypothesised risk meaning that research conducted on this link have been insufficient or inconclusive. Autoimmune conditions: Autoimmune conditions are commonly considered as a risk factor that has been associated with non-Hodgkin lymphomas, with Celiac Disease having an established associated with an increased risk of Extranodal T-cell lymphoma subtypes.[2] Organ transplants and immunosuppressant: Organ transplants and immunosuppressant therapy is considered an established risk factor for all Ndon-Hodgkin lymphoma, including T-cell lymphoma. This risk factor elevates the risk of contracting T-cell lymphoma.[2] Infectious Agents: Several infectious agents have been linked to a higher risk of T-cell lymphoma by providing a compromised immune function allowing the establishment of lymphomas. Of these Epstein Barr virus (EBV) and Human T-cell leukemia virus-1 (HTLV1) are considered established risks.[7] Epstein Barr Virus is a largely common virus with more than 90% of individuals exposed to the virus in their lifetime. EBV has been consistently associated with many lymphoproliferation disorders, of these EBV-associated T-cell lymphomas include Epstein–Barr virus-associated lymphoproliferative diseases , angioimmunoblastic T-cell lymphoma (AITL), extranodal NK/T-cell lymphoma, nasal type, and Peripheral T-cell lymphoma not otherwise specified (PTCL, NOS).[8] The Human T-cell leukemia virus-1 is endemic in regions such as Japan and the Caribbean and has been associated with the increased risk of T-cell lymphoma such as Adult T-cell leukemia/lymphoma (ATL).[9] HTLV-1 has been attributed to 56% and 78% of all ATL cases in Japan and the Caribbean respectively.[8] ## Symptoms[edit] Symptoms of Mycosis fungoide Differences in T-cell lymphoma subtypes extend to the clinical characteristics and symptoms of the disease with each varying drastically. As a result, there is almost no universally known symptom that can be applied to all T-cell lymphoma subtypes.[4] ### The hemophagocytic syndrome (HPS)[edit] Hemophagocytic syndrome has been associated with most T-cell lymphoma subtypes, and is commonly characterized by fevers, reduction of lymphocytes numbers, enlarged liver or spleen, and liver dysfunction.[2] These symptoms are especially common in Extranodal T cell lymphoma subtypes which develop outside the lymph nodes, these can include; Extranodal NK/T-cell lymphoma, nasal type, Cutaneous T-cell lymphoma (CTCL), etc.[5] ### Swollen Lymph nodes[edit] T-cell lymphoma which develops from the lymph nodes commonly causes symptoms as such swollen lymph nodes.[6] The swelling normally will not cause any pain and can be felt or seen as lumps on the surface of the skin. Nodal T-cell lymphoma subtypes such as Peripheral T-cell lymphoma will often develop this symptom. ### Skin Infections[edit] T-cell lymphoma can cause eczema or rash-like symptoms where small red patches will appear around the skin. These patches will often be irritated and may appear slightly lighter in colour compared to the rest of the skin. Occasionally, small lumps will develop which may rupture and cause the surface layer of the skin to break open. This is especially common in Cutaneous T-cell lymphoma subtypes. [4] ## Diagnosis[edit] Biopsy Procedure The diagnosis of T-cell lymphoma varies largely between the subtypes. Some subtypes like anaplastic large-cell lymphoma have an exceptional diagnostic rate however,[4] for a majority of T-cell lymphoma subtypes the diagnosis is often flawed due to the difficulty to culture damaged lymphoma cells and the overall low frequency of cases compared to other Non-Hodgkin lymphoma.[6] The current and most accurate diagnosis used across most subtypes is a biopsy in which fresh tissue that is suspected to be affected by the lymphoma is collected from the patient to be closely examined by pathology laboratories.[2] Other diagnostic methods are specific to the type of T-cell lymphoma, physical examination of skin or lymph nodes is common for cutaneous subtypes of T-cell lymphoma whilst others may be diagnosed using blood tests. Series of scans such as CT scan, MRI, ultrasounds, and even X-rays may also be used for diagnostic purposes.[1] ## Treatment[edit] Stem cell Transplant Treatment for T-cell lymphoma varies widely due to the large variability in the subtypes. Due to the lack of research performed in understanding the nature of T-cell lymphoma pathogenesis, a majority of cases will often have poor outcomes for the treatment or will relapse.[3] However, new research into new therapy methods have been made to help reduce the mortality rates and risk of relapse.[2] ### Chemotherapy[edit] Chemotherapy is a drug treatment that involves the use of one or more anti-cancer drugs and is currently the most common treatment method used across all subtypes.[8] T cell lymphoma is typically treated using the CHOP regimen in which four anti-cancer drugs; cyclophosphamide, doxorubicin, vincristine, and prednisone are used in combination at a relatively high dosage. However, outcomes of the CHOP regimen are often poor with high relapse rates.[3] Other less common chemotherapy regime which can also be used include; DHAP (dexamethasone, high-dose cytarabine, and cisplatin) and ICE (ifosfamide, carboplatin, etoposide), however, the outcomes of these treatments are often similar to or worse than the CHOP regimen.[6] In order to improve these outcomes chemotherapy has often been used in conjunction with radiotherapy followed by stem cell transplants.[2] ### Radiotherapy[edit] Radiotherapy is the use of radiation to eradicate cancer.[2] As the electron beams in radiotherapy only penetrate to the level of the dermis, it is a common method of treatment for skin lymphoma which may only occur locally such as Cutaneous T-cell lymphoma, however, it is not recommended for patients with systemic lymphoma conditions.[6] ### Stem Cell Transplant[edit] Stem Cell Transplants are a common method of treatment which can either be used in conjunction with chemotherapy to improve remission and effectiveness or it can be used with relapsed lymphoma patients.[6] Stem cell transplants can either be an autologous stem cell transplant (ASCT) in which the patient donates their own stem cells or an allogeneic stem cell transplant (alloHCT) in which a related or unrelated healthy donor will donate their stem cells to the patient.[3] Stem cells are collected from the bone marrow and are a type of cell capable of self-renewal and can differentiate into all types of cells,[2] this can be utilised for patients with T-cell lymphoma and has seen effective results in treating some subtypes, especially Angioimmunoblastic T-cell lymphoma.[8] Allogenic stem cell transplants are mainly used when the patient lacks adequate healthy stem cells for an autologous stem cell transplant or has relapsed after prior autologous stem cell transplant treatments.[8] However, allogenic transplants pose a risk as it may be toxic to the patient. Proposed solution include improved donor selection and the use of a conditioning regime in which a high dose of a myeloablative treatment is given alongside stem cell transplants to reduce the immune response.[2] ### Monoclonal Antibodies[edit] Monoclonal Antibodies (mAb) utilizes antibodies to target tumours, it induces apoptosis of the tumour through the obstruction of survival pathways.[10] Monoclonal antibodies can be used as a single treatment agent, however, are more effective when used concurrently with chemotherapy to improve survival and remission.[2] Most commonly used monoclonal antibody used to treat T cell lymphoma include; alemtuzumab and denileukin difititox.[3] ### Nucleoside analogs[edit] Nucleoside analogs are a type of antiviral cytotoxic drug used to treat various cancer related diseases. It possesses highly immunosuppressive abilities and acts by inhibiting viral replication and prevent the spread of the cancerous growth.[3] Nucleoside analogs are one of the most active class of drug used to treat T-cell lymphoma. ### Other[edit] Other non-tradition or new treatment options include; protease inhibitors, signalling inhibitors, and HDAC inhibitors. ## See also[edit] * B-cell lymphoma * Non-hodgkin lymphoma * Hodgkin lymphoma * Lymphoma ## References[edit] 1. ^ a b c d Quesenberry, Peter J.; Castillo, Jorge J. (2013). Non-Hodgkin Lymphoma Prognostic Factors and Targets. NY: Humana Press. 2. ^ a b c d e f g h i j k l m n o p q Foss, Francine (2013). T-cell Lymphomas. Totowa, NJ: Humana Press. 3. ^ a b c d e f g Querfeld, Christiane; Zain, Jasmine; Rosen, Steven T (2019). T-Cell and NK-Cell Lymphomas From Biology to Novel Therapies. Cham: Springer International Publishing. 4. ^ a b c d e Ansell, Stephen M (2015). "Non-Hodgkin Lymphoma: Diagnosis and Treatment". Mayo Clinic Proceedings. 90 (8): 1152–1163. doi:10.1016/j.mayocp.2015.04.025. 5. ^ a b World Health Organisation. "International Classification of Diseases 11th Revision". World Health Organisation. Retrieved 5 October 2020. 6. ^ a b c d e f Younes, Anas; Coiffier, Bertrand (2013). Lymphoma Diagnosis and Treatment. NY: Humana Press. ISBN 978-1-62703-407-4. 7. ^ Shankland, Kate R; Armitage, James O; Hancock, Barry W (2012). "Non-Hodgkin lymphoma". The Lancet. 380 (9844): 848-857. doi:10.1016/S0140-6736(12)60605-9. 8. ^ a b c d e Evens, Andrew M.; Blum, Kristie A. (2015). Non-Hodgkin Lymphoma Pathology, Imaging, and Current Therapy. Cham: Springer International Publishing. 9. ^ Watanabe, Toshiki; Fukushima, Takuya (2017). Adult T-cell Leukemia/Lymphoma. Japan: Springer Japan. ISBN 978-4-431-56523-9. 10. ^ Cheng, Liu; Morrow, John (2017). Biosimilars of Monoclonal Antibodies: A Practical Guide to Manufacturing, Preclinical, and Clinical Development. New Jersey: John Wiley & Sons, Inc. ISBN 978-1-118-66231-1. Classification D * ICD-10: C86, C84 * OMIM: 186960 * MeSH: D016399 * SNOMED CT: 109978004 * v * t * e Leukaemias, lymphomas and related disease B cell (lymphoma, leukemia) (most CD19 * CD20) By development/ marker TdT+ * ALL (Precursor B acute lymphoblastic leukemia/lymphoma) CD5+ * naive B cell (CLL/SLL) * mantle zone (Mantle cell) CD22+ * Prolymphocytic * CD11c+ (Hairy cell leukemia) CD79a+ * germinal center/follicular B cell (Follicular * Burkitt's * GCB DLBCL * Primary cutaneous follicle center lymphoma) * marginal zone/marginal zone B-cell (Splenic marginal zone * MALT * Nodal marginal zone * Primary cutaneous marginal zone lymphoma) RS (CD15+, CD30+) * Classic Hodgkin lymphoma (Nodular sclerosis) * CD20+ (Nodular lymphocyte predominant Hodgkin lymphoma) PCDs/PP (CD38+/CD138+) * see immunoproliferative immunoglobulin disorders By infection * KSHV (Primary effusion) * EBV * Lymphomatoid granulomatosis * Post-transplant lymphoproliferative disorder * Classic Hodgkin lymphoma * Burkitt's lymphoma * HCV * Splenic marginal zone lymphoma * HIV (AIDS-related lymphoma) * Helicobacter pylori (MALT lymphoma) Cutaneous * Diffuse large B-cell lymphoma * Intravascular large B-cell lymphoma * Primary cutaneous marginal zone lymphoma * Primary cutaneous immunocytoma * Plasmacytoma * Plasmacytosis * Primary cutaneous follicle center lymphoma T/NK T cell (lymphoma, leukemia) (most CD3 * CD4 * CD8) By development/ marker * TdT+: ALL (Precursor T acute lymphoblastic leukemia/lymphoma) * prolymphocyte (Prolymphocytic) * CD30+ (Anaplastic large-cell lymphoma * Lymphomatoid papulosis type A) Cutaneous MF+variants * indolent: Mycosis fungoides * Pagetoid reticulosis * Granulomatous slack skin aggressive: Sézary disease * Adult T-cell leukemia/lymphoma Non-MF * CD30-: Non-mycosis fungoides CD30− cutaneous large T-cell lymphoma * Pleomorphic T-cell lymphoma * Lymphomatoid papulosis type B * CD30+: CD30+ cutaneous T-cell lymphoma * Secondary cutaneous CD30+ large-cell lymphoma * Lymphomatoid papulosis type A Other peripheral * Hepatosplenic * Angioimmunoblastic * Enteropathy-associated T-cell lymphoma * Peripheral T-cell lymphoma not otherwise specified (Lennert lymphoma) * Subcutaneous T-cell lymphoma By infection * HTLV-1 (Adult T-cell leukemia/lymphoma) NK cell/ (most CD56) * Aggressive NK-cell leukemia * Blastic NK cell lymphoma T or NK * EBV (Extranodal NK-T-cell lymphoma/Angiocentric lymphoma) * Large granular lymphocytic leukemia Lymphoid+ myeloid * Acute biphenotypic leukaemia Lymphocytosis * Lymphoproliferative disorders (X-linked lymphoproliferative disease * Autoimmune lymphoproliferative syndrome) * Leukemoid reaction * Diffuse infiltrative lymphocytosis syndrome Cutaneous lymphoid hyperplasia * Cutaneous lymphoid hyperplasia * with bandlike and perivascular patterns * with nodular pattern * Jessner lymphocytic infiltrate of the skin General * Hematological malignancy * leukemia * Lymphoproliferative disorders * Lymphoid leukemias [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 inhibitors [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-aminobutyric 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	T-cell lymphoma	c0079772	27,633	wikipedia	https://en.wikipedia.org/wiki/T-cell_lymphoma	2021-01-18T18:47:52	{"mesh": ["D016399"], "umls": ["C0079772"], "orphanet": ["171918"], "wikidata": ["Q7667896"]}
Left bundle branch block ECG characteristics of a typical LBBB showing wide QRS complexes with abnormal morphology in leads V1 and V6. SpecialtyCardiology, Emergency Medicine Left bundle branch block (LBBB) is a cardiac conduction abnormality seen on the electrocardiogram (ECG).[1] In this condition, activation of the left ventricle of the heart is delayed, which causes the left ventricle to contract later than the right ventricle. ## Contents * 1 Causes * 2 Diagnosis * 2.1 Diagnostic consequences * 3 Treatment * 4 See also * 5 References * 6 External links ## Causes[edit] Among the causes of LBBB are: * Aortic stenosis * Dilated cardiomyopathy * Acute myocardial infarction * Extensive coronary artery disease * Primary disease of the cardiac electrical conduction system * Long standing hypertension leading to aortic root dilatation and subsequent aortic regurgitation * Lyme disease * Side effect of some cardiac surgeries (e.g., aortic root reconstruction) ## Diagnosis[edit] Electrocardiogram showing left bundle branch block and irregular rhythm due to supraventricular extrasystoles. A left bundle branch block The criteria to diagnose a left bundle branch block on the electrocardiogram: * The heart rhythm must be supraventricular in origin * The QRS duration must be ≥ 120 ms[2] * There should be a QS or rS complex in lead V1 * There should be a notched ('M'-shaped) R wave in lead V6. The T wave should be deflected opposite the terminal deflection of the QRS complex. This is known as appropriate T wave discordance with bundle branch block. A concordant T wave may suggest ischemia or myocardial infarction. There are also partial blocks of the left bundle branch: "left anterior fascicular block" (LAFB)[3] and a "left posterior fascicular block" (LPFB).[4] This refers to the block after the bifurcation of the left bundle branch. ### Diagnostic consequences[edit] The presence of LBBB results in that electrocardiography (ECG) cannot be used to diagnose left ventricular hypertrophy or Q wave infarction, because LBBB in itself results in widened QRS complex, and changes in the ST segment consistent with ischemia or injury.[5] ## Treatment[edit] * Patients with LBBB require complete cardiac evaluation, and those with LBBB and syncope or near-syncope may require a pacemaker. * Some patients with LBBB, a markedly prolonged QRS (usually > 150 ms), and systolic heart failure may benefit from a biventricular pacemaker, which allows for better synchrony of heart contractions.[6] ## See also[edit] * Bundle branch block * Right bundle branch block * Sgarbossa's criteria ## References[edit] 1. ^ "Conduction Blocks 2006 KCUMB". Retrieved 2009-01-20. 2. ^ "Lesson VI - EKG Conduction Abnormalities". Retrieved 2009-01-07. 3. ^ "more detailed information about left anterior fascicular block". GPnotebook. 4. ^ "more detailed information about left posterior fascicular block". GPnotebook. 5. ^ Emily Groepper; Nasar Nallamothu; Wilfred Lam; Frank Aguirre; Kristi Bergman; Patricia Good; Patricia Wright (May 13, 2014). "Electrocardiography > Left Bundle Branch Block (LBBB)". Southern Illinois University School of Medicine. Retrieved 2015-07-02. 6. ^ Stevenson WG, Hernaddez AF, Carson PE, et al. Indications for cardiac resynchronization therapy: 2011 update from the Heart Failure Society of America guideline committee. J Card Fail 2012; 18:94-106. ## External links[edit] Classification D * ICD-10: I44.4 \- I44.7 * DiseasesDB: 7352 External resources * eMedicine: ped/2501 * v * t * e Cardiovascular disease (heart) Ischaemic Coronary disease * Coronary artery disease (CAD) * Coronary artery aneurysm * Spontaneous coronary artery dissection (SCAD) * Coronary thrombosis * Coronary vasospasm * Myocardial bridge Active ischemia * Angina pectoris * Prinzmetal's angina * Stable angina * Acute coronary syndrome * Myocardial infarction * Unstable angina Sequelae * hours * Hibernating myocardium * Myocardial stunning * days * Myocardial rupture * weeks * Aneurysm of heart / Ventricular aneurysm * Dressler syndrome Layers Pericardium * Pericarditis * Acute * Chronic / Constrictive * Pericardial effusion * Cardiac tamponade * Hemopericardium Myocardium * Myocarditis * Chagas disease * Cardiomyopathy * Dilated * Alcoholic * Hypertrophic * Tachycardia-induced * Restrictive * Loeffler endocarditis * Cardiac amyloidosis * Endocardial fibroelastosis * Arrhythmogenic right ventricular dysplasia Endocardium / valves Endocarditis * infective endocarditis * Subacute bacterial endocarditis * non-infective endocarditis * Libman–Sacks endocarditis * Nonbacterial thrombotic endocarditis Valves * mitral * regurgitation * prolapse * stenosis * aortic * stenosis * insufficiency * tricuspid * stenosis * insufficiency * pulmonary * stenosis * insufficiency Conduction / arrhythmia Bradycardia * Sinus bradycardia * Sick sinus syndrome * Heart block: Sinoatrial * AV * 1° * 2° * 3° * Intraventricular * Bundle branch block * Right * Left * Left anterior fascicle * Left posterior fascicle * Bifascicular * Trifascicular * Adams–Stokes syndrome Tachycardia (paroxysmal and sinus) Supraventricular * Atrial * Multifocal * Junctional * AV nodal reentrant * Junctional ectopic Ventricular * Accelerated idioventricular rhythm * Catecholaminergic polymorphic * Torsades de pointes Premature contraction * Atrial * Junctional * Ventricular Pre-excitation syndrome * Lown–Ganong–Levine * Wolff–Parkinson–White Flutter / fibrillation * Atrial flutter * Ventricular flutter * Atrial fibrillation * Familial * Ventricular fibrillation Pacemaker * Ectopic pacemaker / Ectopic beat * Multifocal atrial tachycardia * Pacemaker syndrome * Parasystole * Wandering atrial pacemaker Long QT syndrome * Andersen–Tawil * Jervell and Lange-Nielsen * Romano–Ward Cardiac arrest * Sudden cardiac death * Asystole * Pulseless electrical activity * Sinoatrial arrest Other / ungrouped * hexaxial reference system * Right axis deviation * Left axis deviation * QT * Short QT syndrome * T * T wave alternans * ST * Osborn wave * ST elevation * ST depression * Strain pattern Cardiomegaly * Ventricular hypertrophy * Left * Right / Cor pulmonale * Atrial enlargement * Left * Right * Athletic heart syndrome Other * Cardiac fibrosis * Heart failure * Diastolic heart failure * Cardiac asthma * Rheumatic fever [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitors [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-aminobutyric 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	Left bundle branch block	c0155702	27,634	wikipedia	https://en.wikipedia.org/wiki/Left_bundle_branch_block	2021-01-18T18:36:02	{"umls": ["C0155702"], "wikidata": ["Q2143688"]}
A foodborne zoonotic disease, endemic to Southeast Asia and the Pacific Islands, caused by the rat lungworm Angiostrongylus cantonensis and that is acquired by the ingestion of the infective larvae on vegetables or in raw or undercooked snails, slugs, land crabs, freshwater shrimps, frogs and lizards. The main feature is eosinophilic meningitis, with clinical manifestations including fever, headache, malaise, fatigue, vomiting, rhinorrhea, blurred vision, diplopia, cough, stiff neck, enteritis, constipation and paraesthesia due to the movement of the worms from the intestines to the lungs, central nervous system and eyes. In severe cases without treatment, coma and death can occur. [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 inhibitors [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-aminobutyric 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	Angiostrongyliasis	c0392662	27,635	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=74	2021-01-23T17:35:37	{"gard": ["683"], "mesh": ["C536369"], "umls": ["C0392662"], "icd-10": ["B81.3", "B83.2"]}
Pelvic floor dysfunction SpecialtyObstetrics and gynaecology Urology Physical therapy Pelvic floor dysfunction is an umbrella term for a variety of disorders that occur when pelvic floor muscles and ligaments are impaired. Although this condition predominantly affects females, up to 16% of males suffer as well.[1] Symptoms include pelvic pain, pressure, pain during sex, incontinence, incomplete emptying of feces, and visible organ protrusion.[2] Tissues surrounding the pelvic organs may have increased or decreased sensitivity or irritation resulting in pelvic pain. Underlying causes of pelvic pain are often difficult to determine.[3] The condition affects up to 50% of women who have given birth.[4] Pelvic floor dysfunction may include any of a group of clinical conditions that includes urinary incontinence, fecal incontinence, pelvic organ prolapse, sensory and emptying abnormalities of the lower urinary tract, defecatory dysfunction, sexual dysfunction and several chronic pain syndromes, including vulvodynia in women and chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS) in men. The three most common and definable conditions encountered clinically are urinary incontinence, anal incontinence and pelvic organ prolapse. ## Contents * 1 Causes * 2 Diagnosis * 3 Treatment * 4 Epidemiology * 5 References ## Causes[edit] Mechanistically, the causes of pelvic floor dysfunction are two-fold: widening of the pelvic floor hiatus and descent of pelvic floor below the pubococcygeal line, with specific organ prolapse graded relative to the hiatus.[2] Associations include obesity, menopause, pregnancy and childbirth.[5] Some women may be more likely to developing pelvic floor dysfunction because of an inherited deficiency in their collagen type. Some women may have congenitally weak connective tissue and fascia and are therefore at risk of stress urinary incontinence and pelvic organ prolapse.[6] By definition, postpartum pelvic floor dysfunction only affects women who have given birth, though pregnancy rather than birth or birth method is thought to be the cause. A study of 184 first-time mothers who delivered by Caesarean section and 100 who delivered vaginally found that there was no significant difference in the prevalence of symptoms 10 months following delivery, suggesting that pregnancy is the cause of incontinence for many women irrespective of their mode of delivery. The study also suggested that the changes which occur to the properties of collagen and other connective tissues during pregnancy may affect pelvic floor function.[7] Pelvic floor dysfunction can result after pelvic radiation,[8] as well as treatment for gynegological cancers.[9] ## Diagnosis[edit] Pelvic floor dysfunction can be diagnosed by history and physical exam, though it is more accurately graded by imaging. Historically, fluoroscopy with defecography and cystography were used, though modern imaging allows the usage of MRI to complement and sometimes replace fluoroscopic assessment of the disorder, allowing for less radiation exposure and increased patient comfort, though an enema is required the evening before the procedure. Instead of contrast, ultrasound gel is used during the procedure with MRI. Both methods assess the pelvic floor at rest and maximum strain using coronal and sagittal views. When grading individual organ prolapse, the rectum, bladder and uterus are individually assessed, with prolapse of the rectum referred to as a rectocele, bladder prolapse through the anterior vaginal wall a cystocele, and small bowel an enterocele.[10] To assess the degree of dysfunction, three measurements must be taken into account. First, an anatomic landmark known as the pubococcygeal line must be determined, which is a straight line connecting the inferior margin of the pubic symphysis at the midline with the junction of the first and second coccygeal elements on a sagittal image. After this, the location of the puborectalis muscle sling is assessed, and a perpendicular line between the pubococcygeal line and muscle sling is drawn. This provides a measurement of pelvic floor descent, with descent greater than 2 cm being considered mild, and 6 cm being considered severe. Lastly, a line from the pubic symphysis to the puborectalis muscle sling is drawn, which is a measurement of the pelvic floor hiatus. Measurements of greater than 6 cm are considered mild, and greater than 10 cm severe. The degree of organ prolapse is assessed relative to the hiatus. The grading of organ prolapse relative to the hiatus is more strict, with any descent being considered abnormal, and greater than 4 cm being considered severe.[2] ## Treatment[edit] There are various procedures used to address prolapse. Cystoceles are treated with a surgical procedure known as a Burch colposuspension, with the goal of suspending the prolapsed urethra so that the urethrovesical junction and proximal urethra are replaced in the pelvic cavity. Uteroceles are treated with hysterectomy and uterosacral suspension. With enteroceles, the prolapsed small bowel is elevated into the pelvis cavity and the rectovaginal fascia is reapproximated. Rectoceles, in which the anterior wall of the rectum protrudes into the posterior wall of the vagina, require posterior colporrhaphy.[6] Pelvic floor dysfunction is common for many women and includes symptoms that can affect all aspects of everyday life and activities. Pelvic floor muscle (PFM) training is vital for treating different types of pelvic floor dysfunction. Two common problems are uterine prolapse and urinary incontinence both of which stem from muscle weakness. Without the ability to control PFM, pelvic floor training cannot be done successfully. Being able to control PFM is vital for a well functioning pelvic floor. Through vaginal palpation exams and the use of biofeedback the tightening, lifting, and squeezing actions of these muscles can be determined. In addition, abdominal muscle training has been shown to improve pelvic floor muscle function.[11] By increasing abdominal muscle strength and control, a person may have an easier time activating the pelvic floor muscles in sync with the abdominal muscles. Many physiotherapists are specially trained to address the muscles weaknesses associated with pelvic floor dysfunction and through intervention can effectively treat this.[12] Common physical therapy interventions in male pelvic floor rehabilitation include myofascial trigger point release of both the internal and external pelvic floor and abdominal musculature, therapeutic exercises, biofeedback, and neuromodulation.[13] ## Epidemiology[edit] The condition is widespread, affecting up to 50 percent of women at some point in their lifetime.[2] About 11 percent of women will undergo surgery for urinary incontinence or pelvic organ prolapse by age 80.[14] 30 percent of those undergoing surgery will have at least two surgeries in trying to correct the problem.[citation needed] ## References[edit] 1. ^ Smith, ChristopherP (2016). "Male chronic pelvic pain: An update". Indian Journal of Urology. 32 (1): 34–9. doi:10.4103/0970-1591.173105. ISSN 0970-1591. PMC 4756547. PMID 26941492. 2. ^ a b c d Boyadzhyan, L; Raman, S. S.; Raz, S (2008). "Role of static and dynamic MR imaging in surgical pelvic floor dysfunction". RadioGraphics. 28 (4): 949–67. doi:10.1148/rg.284075139. PMID 18635623. 3. ^ "Pelvic Pain & Pelvic Floor Dysfunction". beyondbasicsphysicaltherapy.com. Archived from the original on 2013-07-04. Retrieved 2011-01-14. 4. ^ Hagen S, Stark D (2011). "Conservative prevention and management of pelvic organ prolapse in women". Cochrane Database Syst Rev. 12 (12): CD003882. doi:10.1002/14651858.CD003882.pub4. PMID 22161382. 5. ^ Abbey Hospitals Gynaecology and Vaginal Repair information 6. ^ a b "Pelvic Floor Dysfunction Expanded Version \| ASCRS". www.fascrs.org. Retrieved 2017-12-02. 7. ^ Lal, M; h Mann, C; Callender, R; Radley, S (2003). "Does cesarean delivery prevent anal incontinence?". Obstetrics and Gynecology. 101 (2): 305–12. doi:10.1016/s0029-7844(02)02716-3. PMID 12576254. S2CID 25647029. 8. ^ Bernard, Stéphanie; Ouellet, Marie-Pier; Moffet, Hélène; Roy, Jean-Sébastien; Dumoulin, Chantale (April 2016). "Effects of radiation therapy on the structure and function of the pelvic floor muscles of patients with cancer in the pelvic area: a systematic review". Journal of Cancer Survivorship. 10 (2): 351–362. doi:10.1007/s11764-015-0481-8. hdl:1866/16374. ISSN 1932-2259. PMID 26314412. S2CID 13563337. 9. ^ Ramaseshan, Aparna S.; Felton, Jessica; Roque, Dana; Rao, Gautam; Shipper, Andrea G.; Sanses, Tatiana V. D. (2017-09-19). "Pelvic floor disorders in women with gynecologic malignancies: a systematic review". International Urogynecology Journal. 29 (4): 459–476. doi:10.1007/s00192-017-3467-4. ISSN 0937-3462. PMC 7329191. PMID 28929201. 10. ^ El Sayed, R. F.; El Mashed, S; Farag, A; Morsy, M. M.; Abdel Azim, M. S. (2008). "Pelvic floor dysfunction: Assessment with combined analysis of static and dynamic MR imaging findings". Radiology. 248 (2): 518–30. doi:10.1148/radiol.2482070974. PMID 18574134. S2CID 5491294. 11. ^ Mateus-Vasconcelos, Elaine Cristine Lemes; Ribeiro, Aline Moreira; Antônio, Flávia Ignácio; Brito, Luiz Gustavo de Oliveira; Ferreira, Cristine Homsi Jorge (2018-06-03). "Physiotherapy methods to facilitate pelvic floor muscle contraction: A systematic review". Physiotherapy Theory and Practice. 34 (6): 420–432. doi:10.1080/09593985.2017.1419520. ISSN 0959-3985. PMID 29278967. S2CID 3885851. 12. ^ Vesentini, Giovana; El Dib, Regina; Righesso, Leonardo Augusto Rachele; Piculo, Fernanda; Marini, Gabriela; Ferraz, Guilherme Augusto Rago; Calderon, Iracema de Mattos Paranhos; Barbosa, Angélica Mércia Pascon; Rudge, Marilza Vieira Cunha (2019). "Pelvic floor and abdominal muscle cocontraction in women with and without pelvic floor dysfunction: a systematic review and meta-analysis". Clinics. 74: e1319. doi:10.6061/clinics/2019/e1319. ISSN 1807-5932. PMC 6862713. PMID 31778432. 13. ^ Masterson, Thomas A.; Masterson, John M.; Azzinaro, Jessica; Manderson, Lattoya; Swain, Sanjaya; Ramasamy, Ranjith (October 2017). "Comprehensive pelvic floor physical therapy program for men with idiopathic chronic pelvic pain syndrome: a prospective study". Translational Andrology and Urology. 6 (5): 910–915. doi:10.21037/tau.2017.08.17. PMC 5673826. PMID 29184791. 14. ^ Fialkow, M. F.; Newton, K. M.; Lentz, G. M.; Weiss, N. S. (2008-03-01). "Lifetime risk of surgical management for pelvic organ prolapse or urinary incontinence". International Urogynecology Journal. 19 (3): 437–440. doi:10.1007/s00192-007-0459-9. ISSN 0937-3462. PMID 17896064. S2CID 10995869. [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 inhibitors [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-aminobutyric 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	Pelvic floor dysfunction	c4041537	27,636	wikipedia	https://en.wikipedia.org/wiki/Pelvic_floor_dysfunction	2021-01-18T18:44:52	{"mesh": ["D059952"], "umls": ["C4041537"], "wikidata": ["Q7161799"]}
A number sign (#) is used with this entry because aspartylglucosaminuria (AGU) is caused by homozygous mutation in the AGA gene (613228) on chromosome 4q34. Description Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002). Clinical Features Aspartylglucosaminuria was first reported by Jenner and Pollitt (1967) and Pollitt et al. (1968), who found urinary excretion of abnormal amounts of 2-acetamido-1-(beta-L-aspartamido)-1,2-dideoxyglucose in a 32-year-old female and her 20-year-old brother with mental retardation. An enzyme responsible for hydrolyzing this compound is normally present in seminal fluid but was absent in that of the brother. A generalized lack of this enzyme was postulated. Both sibs had thick sagging skin of the cheeks, a finding not present in normal members of the family. Palo and Mattsson (1970) reported 11 cases in Finland. The parents of 1 patient were first cousins. The Finnish cases showed, in addition to severe mental retardation, sagging cheeks, broad nose and face, short neck, cranial asymmetry, scoliosis, periodic hyperactivity, and vacuolated lymphocytes. Diarrhea and frequent infections were problems in infancy. Aspartylglucosaminuria has also been observed in Finns living in Norway (Borud and Torp, 1976). Gehler et al. (1981) described affected brother and sister in a consanguineous Italian sibship; one of the patients showed angiokeratoma corporis diffusum. Yoshida et al. (1991) and Vargas-Diez et al. (2002) also described the occurrence of angiokeratoma corporis diffusum in 2 Japanese patients and 1 Spanish patient, respectively, with aspartylglucosaminuria. Stevenson et al. (1982) reported this disorder in an 18-year-old American. The family name was Scottish-Irish. The mother was said to have been aged 13 years and the father was unknown--circumstances suggesting incest. Mental retardation, recurrent infections, cardiomyopathy, and emotional lability were features. Hreidarsson et al. (1983) reported a case in an American black and an American white of uncertain parentage. Radiographic changes in the hands were noted: thin epiphyses, broad 'poorly modeled' (undertubulated) metacarpals, and peculiarly shaped carpal bones. Isenberg and Sharp (1975) reported the case of a girl of Mexican-Italian extraction living in the U.S. Musumeci et al. (1984) reported a child with both enzymopathic methemoglobinemia (250800) and AGU. Since the structural genes for the enzymes deficient in these 2 disorders are on separate chromosomes, a single mutation such as a small deletion is not likely to be the basis. Furthermore, a sib had only AGU. The parents were consanguineous. Chitayat et al. (1988) described 3 Puerto Rican brothers, with first-cousin parents, who had AGU. Two of the brothers were monozygotic twins. Macroorchidism became evident in all 3 boys at the time of puberty. This feature had not previously been noted in AGU, although other endocrinologic abnormalities had been described. Yoshida et al. (1991) described the first Japanese patients with AGU--a brother and sister, aged 45 and 41, respectively. Both sibs had mental retardation, coarse facial features, angiokeratoma, and myoclonic seizures. Zlotogora et al. (1997) diagnosed this disorder in 8 patients originating from 3 unrelated families, all Palestinian Arabs from the region of Jerusalem. Gordon et al. (1998) described a Canadian family in which 4 of 12 sibs were affected, 2 brothers and 2 sisters. Though apparently normal at birth, their developmental milestones, particularly speech, were slow, and they acquired only a simple vocabulary. There was a progressive coarsening of facial features; 3 had inguinal hernia and recurrent diarrhea; all became severely retarded and by the fourth decade showed evident deterioration of both cognitive and motor skills; and 2 exhibited cyclic behavioral changes. Three of the sibs had died, at 33, 39, and 44 years of age. Arvio et al. (1999) studied 66 Finnish patients with AGU for changes in the oral mucosa and 44 of those for changes in facial skin. Nine patients had facial angiofibromas. Edema of the buccal mucosa and gingival overgrowths were more frequent in AGU patients than in controls (P less than 0.001). Of 16 oral mucosal lesions studied histologically, 15 represented fibroepithelial or epithelial hyperplasias. Cytoplasmic vacuolization was evident in only 4. Expression of AGA in mucosal lesions of AGU patients did not differ from that seen in corresponding lesions of normal subjects. Diagnosis Mononen et al. (1994) described a fluorometric glycosylasparaginase assay for neonatal screening for AGU. Zlotogora et al. (1997) stated that the clinical diagnosis of AGU is difficult, in particular early in the course of the disease; most of the patients are diagnosed after the age of 5 years. They noted that since patients with AGU excrete large amounts of aspartylglucosamine in urine, biochemical detection is easy by urine chromatography. Clinical Management Arvio et al. (2001) described the state of health, intellectual skills, and dysmorphic features of 19 young patients with aspartylglucosaminuria. Of the 19, 5 had undergone a successful bone marrow transplantation between 1991 and 1997. The first 2 patients who received transplants were, after 7 and 5 years' follow-up, more severely mentally retarded than the nontransplanted patients. The general health of the latter group was quite good, whereas the 5 patients who underwent bone marrow transplantation had posttransplant complications. Arvio et al. (2001) concluded that bone marrow transplantation should not be encouraged for the treatment of patients with aspartylglucosaminuria after infancy. Mapping In 12 AGU families with 15 affected persons and 50 carriers (determined by reduced activity of enzyme in lymphocytes), Gron et al. (1989, 1990) studied linkage to chromosome 4 markers and concluded that the locus is distal to MNS (111300). They suggested the order cen--ADH--EGF--FG--MNS--AGU. Population Genetics Aspartylglucosaminuria occurs worldwide, but is enriched in the Finnish population (Arvio and Arvio, 2002). Palo and Mattsson (1970) estimated that there are at least 130 cases in the total population of 4.5 million in Finland. Autio (1980) estimated the frequency at 1 in 26,000 in Finland. A total of 128 cases in 97 families had been identified. Mononen et al. (1991) found a frequency of 1 in 3,643 in a study of children in eastern Finland. This frequency is consistent with a carrier rate of 1 in 30 and indicates that this disorder, after trisomy 21 and the fragile X syndrome, is the most common genetic cause of mental retardation. Molecular Genetics In Finnish patients with aspartylglucosaminuria, Ikonen et al. (1991) and Fisher and Aronson (1991) independently identified homozygosity for a cys163-to-ser (C163S; 613228.0001) mutation in the AGA gene. The C163S mutation is responsible for 98% of the cases of AGU in Finland (Isoniemi et al., 1995). Ikonen et al. (1991) described the spectrum of 10 AGU mutations found in 12 unrelated patients of non-Finnish origin. Since 11 of the 12 were homozygotes, consanguinity appears to be a common denominator in most AGU families, although consanguinity could be confirmed in only 2 of the families. Screening for the unknown gene defects was done using single-strand conformation polymorphism (SSCP) analysis. The mutations were distributed over the entire coding region of the AGU cDNA, except in the carboxyl-terminal 17-kD subunit in which they were clustered within a 46-amino acid region. Based on the character of the mutations, Ikonen et al. (1991) concluded that most of the mutations probably affected the folding and stability of the molecule and did not directly affect the active site of the enzyme. There were 3 non-Finnish patients who had the 'Finnish' cys163-to-ser mutation (613228.0001) but 2 of them were Norwegian and 1 was Swedish. These patients presumably had Finnish ancestry (Borud and Torp, 1976). Tollersrud et al. (1994) reported on 9 patients from 7 families identified in northern Norway. All were homozygous for the Finnish C163S founder mutation. Genealogic investigation of 9 parents proved Finnish ancestry in all pedigrees. These Finnish immigrants originated in the main from the Tornio valley in northern Finland in a continuous immigration movement from 1700 to 1900. Ikonen and Peltonen (1992) reviewed a total of 11 AGA mutations causing AGU published to that time. Animal Model Through targeted disruption of the mouse Aga gene in embryonic stem cells, Kaartinen et al. (1996) generated mice that completely lack Aga activity. At the age of 5 to 10 months, a massive accumulation of aspartylglucosamine was detected in Aga-null mice along with lysosomal vacuolization, axonal swelling in the gracile nucleus, and impaired neuromotor coordination. A significant number of older male mice had massively swollen bladders, which was not caused by obstruction, but was most likely related to the impaired function of the nervous system. The findings were considered consistent with the pathogenesis of AGU and provided further data explaining the impaired neurologic function in AGU patients. Gonzalez-Gomez et al. (1998) reported that after the age of 10 months the general condition of the null mutant mice created by Kaartinen et al. (1996) gradually deteriorated. They suffered from progressive motor impairment and impaired bladder function and died prematurely. A widespread lysosomal hypertrophy in the central nervous system was detected. The oldest animals (20 months old) displayed neuronal loss and gliosis, particularly in the regions where the most severe neuronal vacuolation was found. The severe ataxic gait of the older mice was probably due to the dramatic loss of Purkinje cells, intensive astrogliosis and vacuolation of neurons in the deep cerebellar nuclei, and the severe vacuolation of the cells in vestibular and cochlear nuclei. The impaired bladder function and subsequent hydronephrosis were secondary to involvement of the central nervous system. The mice thus appeared to be a suitable animal model for testing therapeutic strategies in AGU. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Head \- Brachycephaly \- Microcephaly Face \- Coarse facies \- Broad face Eyes \- Crystal-like lens opacity Nose \- Low nasal bridge \- Anteverted nostrils Mouth \- Macroglossia \- Wide mouth \- Thick lips CARDIOVASCULAR Heart \- Mitral insufficiency RESPIRATORY Lung \- Recurrent respiratory infections ABDOMEN External Features \- Hernias Liver \- Hepatomegaly Gastrointestinal \- Diarrhea GENITOURINARY External Genitalia (Male) \- Macroorchidism SKELETAL \- Delayed skeletal maturation \- Mild dysostosis multiplex Skull \- Thick calvaria \- Underdeveloped frontal sinuses Spine \- Kyphosis \- Scoliosis \- Flattening and anterior beaking of vertebral bodies \- Spondylolysis \- Spondylolisthesis Limbs \- Joint laxity \- Pathologic fractures SKIN, NAILS, & HAIR Skin \- Angiokeratoma corporis diffusum \- Acne NEUROLOGIC Central Nervous System \- Speech delay \- Mental deterioration in childhood \- Mental retardation \- Hypotonia \- Spasticity \- Cerebral atrophy \- Seizures (adult) VOICE \- Hoarse voice HEMATOLOGY \- Vacuolated lymphocytes \- Neutropenia IMMUNOLOGY \- Recurrent infections LABORATORY ABNORMALITIES \- Aspartylglucosaminuria \- Little to absent aspartylglucosaminuria activity \- Decreased prothrombin time MISCELLANEOUS \- Increased frequency in the Finnish population \- 98% of Finnish cases due to one mutation \- Carrier frequency in Finland 1/40 \- Onset of symptoms 2-6 years of age MOLECULAR BASIS \- Caused by mutation in the aspartylglucosaminidase gene (AGA, 208400.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	ASPARTYLGLUCOSAMINURIA	c0268225	27,637	omim	https://www.omim.org/entry/208400	2019-09-22T16:30:41	{"doid": ["0050461"], "mesh": ["D054880"], "omim": ["208400"], "icd-10": ["E77.1"], "orphanet": ["93"], "synonyms": ["Alternative titles", "GLYCOSYLASPARAGINASE DEFICIENCY", "ASPARTYLGLUCOSAMINIDASE DEFICIENCY", "AGA DEFICIENCY", "GLYCOASPARAGINASE", "ASPARTYLGLYCOSAMINURIA"]}
Tree nut allergy Hazelnuts, a type of tree nut SpecialtyImmunology A tree nut allergy is a hypersensitivity to dietary substances from tree nuts and edible tree seeds causing an overreaction of the immune system which may lead to severe physical symptoms. Tree nuts include, but are not limited to, almonds, Brazil nuts, cashews, chestnuts, filberts/hazelnuts, macadamia nuts, pecans, pistachios,[1] shea nuts and walnuts.[note 1] Management is by avoiding eating the causal nuts or foods that contain them among their ingredients, and a prompt treatment if there is an accidental ingestion.[2] Total avoidance is complicated because the declaration of the presence of trace amounts of allergens in foods is not mandatory in any country, with the exception of Brazil.[3][4][5] Tree nut allergies are distinct from peanut allergy, as peanuts are legumes, whereas a tree nut is a hard-shelled nut. ## Contents * 1 Signs and symptoms * 2 Cause * 3 Diagnosis * 4 Prevention * 4.1 Cross-reactivity * 5 Treatment * 6 Society and culture * 6.1 Regulation of labelling * 6.1.1 Ingredients intentionally added * 6.1.2 Trace amounts as a result of cross-contamination * 7 Research * 8 See also * 9 Notes * 10 References * 11 External links ## Signs and symptoms[edit] The severity of the allergy varies from person to person, and exposure can increase sensitization. For those with a milder form of the allergy, a reaction which makes the throat feel like cotton may occur.[citation needed] Subjects allergic to tree nut can experience asthma, skin rashes, itchy throat, swollen eyes. The most severe reaction can lead to anaphylaxis. The raw nut protein usually causes a more severe reaction than the oil, and extra roasting or processing can reduce the allergic reaction. This allergy tends to be lifelong; studies have shown that only about 9% of children outgrow their tree nut allergy.[6] ## Cause[edit] People with tree nut allergy are seldom allergic to just one type of nut,[7][8] and are therefore usually advised to avoid all tree nuts, even though an individual may not be allergic to the nuts of all species of trees. Someone allergic to walnuts or pecans may not have an allergy to cashews or pistachios, because the two groups are only distantly related and do not necessarily share related allergenic proteins. ## Diagnosis[edit] An allergy test or food challenge may be performed at an allergy clinic to determine the exact allergens. A tree nut allergy can be life threatening. If you believe that you may be having allergic reactions to any kind of tree nut, get tested by an allergist immediately.[9] Tree nut allergies can be genetic and passed down.[10] The test to get to determine if you have an allergy are skin-prick tests as well as blood tests. What they’re looking for is the presence of a specific allergen named immunoglobulin E which is an antibody that attaches itself to allergens. This triggers the chemicals that flow through your body and causes the symptoms.[11] If the test results are inconclusive, there is also an oral food challenge. This test consists of feeding the patient tiny amounts of the food that they believe is causing their allergy reactions. This is done under direct supervision of the allergist.[12] ## Prevention[edit] Prevention involves an exclusion diet and vigilant avoidance of foods that may be contaminated with tree nuts, nut particles, or oils extracted from nuts. In the United States, the federal Food Allergen Labeling and Consumer Protection Act (FALCPA) requires that any packaged food product that contains tree nuts as an ingredient must list the specific tree nut on the label.[6] Foods that almost always contain tree nuts include pesto, marzipan, Nutella, baklava, pralines, nougat, gianduja, and turrón. Other common foods that may contain tree nuts include cereals, crackers, cookies, baked goods, candy, chocolates, energy/granola bars, flavored coffee, frozen desserts, marinades, barbecue sauces, and some cold cuts, such as mortadella. Tree nut oils (especially shea nut) are also sometimes used in lotions and soaps. Asian and African restaurants, ice cream parlors, and bakeries are considered high-risk for people with tree nut allergy due to the common use of nuts and the possibility of cross contamination. ### Cross-reactivity[edit] People with clinically confirmed tree nut allergy to one type of tree nut may have cross-reactivity to other tree nut species and also to peanuts, which are not nuts but rather part of the legume family.[13][14] The cause is similarity in protein structures. Identifiable allergenic proteins are grouped into families: cupins, prolamins, profilin and others. Tree nuts have proteins in these families, as do peanuts and other legumes.[13] Reviews of human trials report that for a confirmed tree nut allergy, up to one third of people will react to more than one type of tree nut. The cross reactivity among almond, walnut, pecan, hazelnut and Brazil nut is stronger than cross reactivity of these toward cashew or pistachio.[14] ## Treatment[edit] Strict dietary avoidance of the causal nut(s) remains the mainstay of treatment for nut-allergic individuals. If the food is accidentally ingested and a systemic reaction (anaphylaxis) occurs, then epinephrine should be used. People with potential anaphylaxis are recommended to carry auto-injectors at all times.[2] Less severe reaction may be dealt with by taking an antihistamine tablet. Total avoidance is complicated because the declaration of the presence of trace amounts of allergens in foods is not mandatory (see regulation of labelling). ## Society and culture[edit] Whether food allergy prevalence is increasing or not, food allergy awareness has increased, with impacts on the quality of life for children, their parents and their immediate caregivers.[15][16][17][18] In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 causes people to be reminded of allergy problems every time they handle a food package, and restaurants have added allergen warnings to menus. The Culinary Institute of America, a premier school for chef training, has courses in allergen-free cooking and a separate teaching kitchen.[19] School systems have protocols about what foods can be brought into the school. Despite all these precautions, people with serious allergies are aware that accidental exposure can easily occur at other peoples' houses, at school or in restaurants.[20] Food fear has a significant impact on quality of life.[17][18] Finally, for children with allergies, their quality of life is also affected by actions of their peers. There is an increased occurrence of bullying, which can include threats or acts of deliberately being touched with foods they need to avoid, also having their allergen-free food deliberately contaminated.[21] ### Regulation of labelling[edit] An example of a list of allergens in a food item In response to the risk that certain foods pose to those with food allergies, some countries have responded by instituting labeling laws that require food products to clearly inform consumers if their products contain major allergens or byproducts of major allergens among the ingredients intentionally added to foods. Nevertheless, there are no labeling laws to mandatory declare the presence of trace amounts in the final product as a consequence of cross-contamination, except in Brazil.[5][22][23][24][25][26][4][3] #### Ingredients intentionally added[edit] In the United States, the Food Allergen Labeling and Consumer Protection Act of 2004 (FALCPA) requires companies to disclose on the label whether a packaged food product contains any of these eight major food allergens, added intentionally: cow's milk, peanuts, eggs, shellfish, fish, tree nuts, soy and wheat.[22] This list originated in 1999 from the World Health Organisation Codex Alimentarius Commission.[4] To meet FALCPA labeling requirements, if an ingredient is derived from one of the required-label allergens, then it must either have its "food sourced name" in parentheses, for example "Casein (milk)," or as an alternative, there must be a statement separate but adjacent to the ingredients list: "Contains milk" (and any other of the allergens with mandatory labeling).[22][24] The European Union requires listing for those eight major allergens plus molluscs, celery, mustard, lupin, sesame and sulfites.[23] FALCPA applies to packaged foods regulated by the FDA, which does not include poultry, most meats, certain egg products, and most alcoholic beverages.[3] However, some meat, poultry, and egg processed products may contain allergenic ingredients. These products are regulated by the Food Safety and Inspection Service (FSIS), which requires that any ingredient be declared in the labeling only by its common or usual name. Neither the identification of the source of a specific ingredient in a parenthetical statement nor the use of statements to alert for the presence of specific ingredients, like "Contains: milk", are mandatory according to FSIS.[25][26] FALCPA also does not apply to food prepared in restaurants.[27][28] The EU Food Information for Consumers Regulation 1169/2011 – requires food businesses to provide allergy information on food sold unpackaged, for example, in catering outlets, deli counters, bakeries and sandwich bars.[29] In the United States, there is no federal mandate to address the presence of allergens in drug products. FALCPA does not apply to medicines nor to cosmetics.[30] #### Trace amounts as a result of cross-contamination[edit] The value of allergen labeling other than for intentional ingredients is controversial. This concerns labeling for ingredients present unintentionally as a consequence of cross-contact or cross-contamination at any point along the food chain (during raw material transportation, storage or handling, due to shared equipment for processing and packaging, etc.).[4][3] Experts in this field propose that if allergen labeling is to be useful to consumers, and healthcare professionals who advise and treat those consumers, ideally there should be agreement on which foods require labeling, threshold quantities below which labeling may be of no purpose, and validation of allergen detection methods to test and potentially recall foods that were deliberately or inadvertently contaminated.[31][32] Labeling regulations have been modified to provide for mandatory labeling of ingredients plus voluntary labeling, termed precautionary allergen labeling (PAL), also known as “may contain” statements, for possible, inadvertent, trace amount, cross-contamination during production.[4][33] PAL labeling can be confusing to consumers, especially as there can be many variations on the wording of the warning.[33][34] As of 2014[update] PAL is regulated only in Switzerland, Japan, Argentina, and South Africa. Argentina decided to prohibit precautionary allergen labeling since 2010, and instead puts the onus on the manufacturer to control the manufacturing process and label only those allergenic ingredients known to be in the products. South Africa does not permit the use of PAL, except when manufacturers demonstrate the potential presence of allergen due to cross-contamination through a documented risk assessment and despite adherence to Good Manufacturing Practice.[4] In Australia and New Zealand there is a recommendation that PAL be replaced by guidance from VITAL 2.0 (Vital Incidental Trace Allergen Labeling). A review identified "the eliciting dose for an allergic reaction in 1% of the population" as ED01. This threshold reference dose for foods (such as cow's milk, egg, peanut and other proteins) will provide food manufacturers with guidance for developing precautionary labeling and give consumers a better idea of might be accidentally in a food product beyond "may contain."[35][36] VITAL 2.0 was developed by the Allergen Bureau, a food industry sponsored, non-government organization.[37] The European Union has initiated a process to create labeling regulations for unintentional contamination but is not expected to publish such before 2024.[38] In Brazil since April 2016, the declaration of the possibility of cross-contamination is mandatory when the product does not intentionally add any allergenic food or its derivatives, but the Good Manufacturing Practices and allergen control measures adopted are not sufficient to prevent the presence of accidental trace amounts. These allergens include wheat, rye, barley, oats and their hybrids, crustaceans, eggs, fish, peanuts, soybean, milk of all species of mammalians, almonds, hazelnuts, cashew nuts, Brazil nuts, macadamia nuts, walnuts, pecan nuts, pistaches, pine nuts, and chestnuts.[5] ## Research[edit] Immunotherapy treatments are being developed for tree nut allergy, including oral immunotherapy, sublingual immunotherapy, and epicutaneous immunotherapy.[2] ## See also[edit] * Allergy (has diagrams showing involvement of different types of white blood cells) * Food allergy (has images of hives, skin prick test and patch test) * List of allergens (food and non-food) * Peanut allergy (can be cross-reactive to tree nut allergy) ## Notes[edit] 1. ^ Many seeds are commonly referred to as "nuts" even though botanists use the term more restrictively to refer to those that come from indehiscent fruits. See the article about nuts for more information. ## References[edit] 1. ^ "Tree nut allergy". Food Allergy Research and Education. 2. ^ a b c Weinberger T, Sicherer S (2018). "Current perspectives on tree nut allergy: a review". J Asthma Allergy (Review). 11: 41–51. doi:10.2147/JAA.S141636. PMC 5875412. PMID 29618933. 3. ^ a b c d FDA (18 December 2017). "Food Allergies: What You Need to Know". Retrieved 12 January 2018. 4. ^ a b c d e f Allen KJ, Turner PJ, Pawankar R, Taylor S, Sicherer S, Lack G, Rosario N, Ebisawa M, Wong G, Mills EN, Beyer K, Fiocchi A, Sampson HA (2014). "Precautionary labelling of foods for allergen content: are we ready for a global framework?". World Allergy Organ J. 7 (1): 1–14. doi:10.1186/1939-4551-7-10. PMC 4005619. PMID 24791183. 5. ^ a b c "Agência Nacional de Vigilância Sanitária Guia sobre Programa de Controle de Alergênicos" (in Portuguese). Agência Nacional de Vigilância Sanitária (ANVISA). 2016. Retrieved 7 April 2018. 6. ^ a b National Institutes of Health, NIAID Allergy Statistics. "Archived copy". Archived from the original on April 6, 2010. Retrieved December 18, 2011.CS1 maint: archived copy as title (link) 7. ^ Goetz, DW (July 2005). "Cross-reactivity among edible nuts: double immunodiffusion, crossed immunoelectrophoresis, and human specific igE serologic surveys. (Abstract)". Ann. Allergy Asthma Immunol. 95 (1): 45–52. doi:10.1016/S1081-1206(10)61187-8. PMID 16095141. 8. ^ MD, edited by Scott H. Sicherer (2014). Food allergy : practical diagnosis and management (1 ed.). Boca Raton: CRC Press. p. 29. ISBN 9781466512689.CS1 maint: extra text: authors list (link) 9. ^ https://acaai.org/allergies/types/food-allergies/types-food-allergy/tree-nut-allergy 10. ^ https://kidshealth.org/en/parents/allergy.html 11. ^ https://acaai.org/allergies/types/food-allergies/types-food-allergy/tree-nut-allergy 12. ^ https://acaai.org/allergies/types/food-allergies/types-food-allergy/tree-nut-allergy 13. ^ a b Bublin M, Breiteneder H (2014). "Developing therapies for peanut allergy". Int. Arch. Allergy Immunol. 165 (3): 179–194. doi:10.1159/000369340. PMC 5548240. PMID 25531161. 14. ^ a b Lomas JM, Järvinen KM (2015). "Managing nut-induced anaphylaxis: challenges and solutions". J Asthma Allergy. 8: 115–123. doi:10.2147/JAA.S89121. PMC 4631427. PMID 26604803. 15. ^ Ravid NL, Annunziato RA, Ambrose MA, Chuang K, Mullarkey C, Sicherer SH, Shemesh E, Cox AL (2015). "Mental health and quality-of-life concerns related to the burden of food allergy". Psychiatr. Clin. North Am. 38 (1): 77–89. doi:10.1016/j.psc.2014.11.004. PMID 25725570. 16. ^ Morou Z, Tatsioni A, Dimoliatis ID, Papadopoulos NG (2014). "Health-related quality of life in children with food allergy and their parents: a systematic review of the literature". J Investig Allergol Clin Immunol. 24 (6): 382–95. PMID 25668890. 17. ^ a b Lange L (2014). "Quality of life in the setting of anaphylaxis and food allergy". Allergo J Int. 23 (7): 252–260. doi:10.1007/s40629-014-0029-x. PMC 4479473. PMID 26120535. 18. ^ a b van der Velde JL, Dubois AE, Flokstra-de Blok BM (2013). "Food allergy and quality of life: what have we learned?". Curr Allergy Asthma Rep. 13 (6): 651–61. doi:10.1007/s11882-013-0391-7. PMID 24122150. S2CID 326837. 19. ^ Culinary Institute of America Allergen-free oasis comes to the CIA (2017) 20. ^ Shah E, Pongracic J (2008). "Food-induced anaphylaxis: who, what, why, and where?". Pediatr Ann. 37 (8): 536–41. doi:10.3928/00904481-20080801-06. PMID 18751571. 21. ^ Fong AT, Katelaris CH, Wainstein B (2017). "Bullying and quality of life in children and adolescents with food allergy". J Paediatr Child Health. 53 (7): 630–635. doi:10.1111/jpc.13570. PMID 28608485. S2CID 9719096. 22. ^ a b c "Food Allergen Labeling and Consumer Protection Act of 2004". FDA. August 2, 2004. Archived from the original on 2011-02-02. 23. ^ a b "Food allergen labelling and information requirements under the EU Food Information for Consumers Regulation No. 1169/2011: Technical Guidance" (April 2015). 24. ^ a b FDA (14 December 2017). "Have Food Allergies? Read the Label". Retrieved 14 January 2018. 25. ^ a b "Food Ingredients of Public Health Concern" (PDF). United States Department of Agriculture. Food Safety and Inspection Service. 7 March 2017. Retrieved 16 February 2018. 26. ^ a b "Allergies and Food Safety". United States Department of Agriculture. Food Safety and Inspection Service. 1 December 2016. Retrieved 16 February 2018. 27. ^ Roses JB (2011). "Food allergen law and the Food Allergen Labeling and Consumer Protection Act of 2004: falling short of true protection for food allergy sufferers". Food Drug Law J. 66 (2): 225–42, ii. PMID 24505841. 28. ^ FDA (18 July 2006). "Food Allergen Labeling And Consumer Protection Act of 2004 Questions and Answers". Retrieved 12 March 2018. 29. ^ "Allergy and intolerance: guidance for businesses". Archived from the original on 2014-12-08. Retrieved 2014-12-12. 30. ^ Shah AV, Serajuddin AT, Mangione RA (2017). "Making All Medications Gluten Free". J Pharm Sci. 107 (5): 1263–1268. doi:10.1016/j.xphs.2017.12.021. PMID 29287928. 31. ^ Mills EN, Valovirta E, Madsen C, Taylor SL, Vieths S, Anklam E, Baumgartner S, Koch P, Crevel RW, Frewer L (2004). "Information provision for allergic consumers--where are we going with food allergen labelling?". Allergy. 59 (12): 1262–1268. doi:10.1111/j.1398-9995.2004.00720.x. PMID 15507093. S2CID 40395908. 32. ^ Taylor SL, Baumert JL (2015). "Worldwide food allergy labeling and detection of allergens in processed foods". Food Allergy: Molecular Basis and Clinical Practice. Chem Immunol Allergy. Chemical Immunology and Allergy. 101. pp. 227–234. doi:10.1159/000373910. ISBN 978-3-318-02340-4. PMID 26022883. 33. ^ a b DunnGalvin A, Chan CH, et al. (2015). "Precautionary allergen labelling: perspectives from key stakeholder groups". Allergy. 70 (9): 1039–1051. doi:10.1111/all.12614. PMID 25808296. S2CID 18362869. 34. ^ Zurzolo GA, de Courten M, Koplin J, Mathai ML, Allen KJ (2016). "Is advising food allergic patients to avoid food with precautionary allergen labelling out of date?". Curr Opin Allergy Clin Immunol. 16 (3): 272–277. doi:10.1097/ACI.0000000000000262. PMID 26981748. S2CID 21326926. 35. ^ Allen KJ, Remington BC, Baumert JL, Crevel RW, Houben GF, Brooke-Taylor S, Kruizinga AG, Taylor SL (2014). "Allergen reference doses for precautionary labeling (VITAL 2.0): clinical implications". J. Allergy Clin. Immunol. 133 (1): 156–164. doi:10.1016/j.jaci.2013.06.042. PMID 23987796. 36. ^ Taylor SL, Baumert JL, Kruizinga AG, Remington BC, Crevel RW, Brooke-Taylor S, Allen KJ, Houben G (2014). "Establishment of Reference Doses for residues of allergenic foods: report of the VITAL Expert Panel". Food Chem. Toxicol. 63: 9–17. doi:10.1016/j.fct.2013.10.032. PMID 24184597. 37. ^ The VITAL Program Allergen Bureau, Australia and New Zealand. 38. ^ Popping B, Diaz-Amigo C (2018). "European Regulations for Labeling Requirements for Food Allergens and Substances Causing Intolerances: History and Future". J AOAC Int. 101 (1): 2–7. doi:10.5740/jaoacint.17-0381. PMID 29202901. ## External links[edit] Classification D * ICD-9-CM: 995.64, V15.05 * MeSH: D021184 * Tree nut allergy at Food Allergy Initiative * "Are Nut Bans Promoting Hysteria?" by Tana Parker-Pope at The New York Times (15 Dec 2008) * v * t * e Allergic conditions Respiratory system * Allergic rhinitis (hay fever) * Asthma * Hypersensitivity pneumonitis * Eosinophilic pneumonia * Eosinophilic granulomatosis with polyangiitis * Allergic bronchopulmonary aspergillosis * Farmer's lung * Laboratory animal allergy Skin * Angioedema * Urticaria * Atopic dermatitis * Allergic contact dermatitis * Hypersensitivity vasculitis Blood and immune system * Serum sickness Circulatory system * Anaphylaxis Digestive system * Coeliac disease * Eosinophilic gastroenteritis * Eosinophilic esophagitis * Food allergy * Egg allergy * Milk intolerance Nervous system * Eosinophilic meningitis Genitourinary system * Acute interstitial nephritis Other conditions * Drug allergy * Allergic conjunctivitis * Latex allergy * 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]: 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 inhibitors [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-aminobutyric 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	Tree nut allergy	c0577620	27,638	wikipedia	https://en.wikipedia.org/wiki/Tree_nut_allergy	2021-01-18T18:51:14	{"mesh": ["D021184"], "umls": ["C0577620"], "icd-9": ["995.64"], "wikidata": ["Q2373361"]}
A number sign (#) is used with this entry because X-linked mental retardation-hypotonic facies syndrome-1 (MRXFH1) is caused by mutation in the ATRX gene (300032) on chromosome Xq13. Description The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; 301040) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. Nomenclature Juberg-Marsidi syndrome (see 309590) was previously thought to be the same as X-linked mental retardation-hypotonic facies syndrome; however, affected individuals from that original family were found to have a pathogenic mutation in the HUWE1 gene (300697). Clinical Features Smith et al. (1980) described 2 brothers with a combination of mental retardation, microcephaly, short stature, and unusual facial appearance, including slanted palpebral fissures, narrow face with maxillary overjet, alternating exotropia, and ptosis. Muscle tone was hypotonic, but 1 patient had hyperreflexia. The authors quoted Frota-Pessoa et al. (1968) as citing a prior probability of about 30% for autosomal recessive inheritance and about 70% for X-linked inheritance, when 2 brothers are affected. Stephenson and Johnson (1985) reported a third case of what they referred to as 'Smith-Fineman-Myers syndrome' in an unrelated male residing in the same institution as the 2 brothers of Smith et al. (1980). Ades et al. (1991) described 2 brothers who had findings similar to those in the patients of Smith et al. (1980) and Stephenson and Johnson (1985), including patulous lower lip and prominent, widely spaced upper central incisors. One of the brothers had asplenia, and both had bilateral cryptorchidism. Hypotonia was present early and hypertonia later. Hall (1992) suggested that these brothers in fact had the X-linked alpha-thalassemia/mental retardation syndrome. Ades (1992) responded that study of the blood of both boys, their phenotypically normal sister, and both parents showed absence of hemoglobin H inclusions in all specimens. Guion-Almeida et al. (1998) suggested that Smith-Fineman-Myers syndrome was the disorder in 2 boys thought to be monozygotic twins. Features were an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, instability in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development. Mattei et al. (1983) presented a family with a diagnosis of Juberg-Marsidi syndrome in which 7 males in 5 sibships were affected. The patients had deafness, severe mental retardation, facial dysmorphism, and genital abnormalities, including small penis, hypospadias, and cryptorchidism. Holmes and Gang (1984) reported a family in which 3 males had an X-linked mental retardation syndrome with microcephaly, epicanthal folds, short nose with anteverted nostrils, short upper lip and equinovarus deformity. One patient had bilateral renal hypoplasia. The 3 affected boys died in infancy or early childhood, 1 of pneumonia, 1 of 'encephalitis,' and 1 of unknown cause during febrile illness. Chudley et al. (1988) described a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. In this family, 2 other males with similar facial and other features had died in early infancy and mid-childhood. Preliminary studies with DNA probes were consistent with X-linkage, and permitted exclusion of distal Xp and Xq regions as the site of the mutation. Cole et al. (1991) suggested that the family reported by Chudley et al. (1988) might have the ATR-X syndrome. However, Chudley and Lowry (1992) reported that follow-up showed normal hematologic indices and no detectable hemoglobin H. Furthermore, their patients appeared to be less severely retarded than the patients reported by Cole et al. (1991). Because of the possibility of an X-chromosome contiguous gene syndrome with different sized deletions, they performed high resolution chromosome analyses but found no deletions. Carpenter et al. (1988) reported a family in which 6 males were affected with X-linked mental retardation. Clinical features included short stature, prominent lips, bushy eyebrows, depressed nasal bridge with widening of the tip of the nose, widely-spaced teeth, and brachydactyly. Genetic analysis excluded fragile X syndrome, and radiographic analysis excluded Coffin-Lowry syndrome. Linkage studies identified a locus at Xq11-q22. In a follow-up study of the same family, Carpenter et al. (1999) found that obligate carrier females showed completely skewed X-inactivation. Carpenter et al. (1999) noted that the patients did not have alpha-thalassemia or genital abnormalities. Villard et al. (1996) reported a male patient and maternal uncle with X-linked mental retardation-hypotonic face syndrome and a mutation in the XH2 gene (300032.0012). At age 4, the proband had severe mental retardation with hypotonia and absence of speech. Facial features included epicanthic folds, telecanthus, midface hypoplasia, flat nasal bridge, small triangular nose with anteverted nostrils and with columella not extending below the nasal alae, carp-shaped mouth, hypoplastic lower central incisors, apparently low-set and posteriorly angulated ears, and protrusion of the tongue. The fingers were short and tapering and the toes overlapping. There were no signs of hematologic abnormality. The maternal uncle was severely mentally retarded, could not speak, and died at 7 years of age. The authors stated that photographs of the uncle showed the same facial dysmorphism as was found in his nephew. Gibbons and Higgs (2000) provided a review of the clinical spectrum of syndromes caused by mutation in the XH2 gene. Mapping In the kindred reported by Mattei et al. (1983) with a diagnosis of Juberg-Marsidi syndrome, Saugier-Veber et al. (1993) mapped the disease locus to Xq12-q21 by linkage to a probe at the DXS441 locus; maximum lod = 3.24 at theta = 0.0. Multipoint linkage analysis placed the JMS gene within the interval defined by DXS159 and DXYS1X. By linkage analysis, Carpenter et al. (1988) found that the XLMR syndrome in the family they reported showed linkage to a locus at Xq11-q22. In a follow-up study of the same family, Carpenter et al. (1999) refined the disease locus to a region between Xp11.3 and Xq23 (maximum lod score of 2.53 at several markers). Molecular Genetics In 1 surviving affected member and many heterozygous carriers of a family with MRXHF1, previously reported by Mattei et al. (1983) as having Juberg-Marsidi syndrome, Villard et al. (1996) identified a mutation in the ATRX gene (300032.0011). In affected males in the family reported by Carpenter et al. (1988, 1999), Abidi et al. (1999) identified a mutation in the ATRX gene (300032.0024). The authors referred to the disorder as the 'Carpenter-Waziri syndrome.' Villard et al. (2000) found that the patients reported by Ades et al. (1991) as having Smith-Fineman-Myers syndrome had a mutation in the ATRX gene (300032.0017). In 2 obligate carriers from the family reported by Holmes and Gang (1984), Stevenson et al. (2000) identified a mutation in the ATRX gene (300032.0025). Carriers in this family, who had no clinical manifestations, showed the typical marked skewing of X inactivation, consistent with a mutation in the ATRX gene. Stevenson et al. (2000) referred to this disorder as the 'XLMR-hypotonic face syndrome.' In affected males in the original family with Chudley-Lowry syndrome (Chudley et al., 1988), Abidi et al. (2005) identified a mutation in the ATRX gene (300032.0022) Leahy et al. (2005) reported a 3-year-old boy with mental retardation, dysmorphic facial features, early hypotonia followed by hypertonia, and asplenia, in whom they identified a missense mutation in the ATRX gene (300032.0026). They stated that this was the second reported patient with mental retardation and asplenia with a mutation in the ATRX gene, the first being the patient reported by Ades et al. (1991). Neither patient had HbH inclusion bodies on staining with brilliant cresyl blue. INHERITANCE \- X-linked recessive GROWTH Height \- Short stature Weight \- Obesity, mild (rare) Other \- Growth retardation HEAD & NECK Head \- Microcephaly \- Dolichocephaly Face \- Midface hypoplasia \- Bitemporal narrowing \- Small philtrum \- Micrognathia \- Coarse facial features Ears \- Low-set ears \- Small ears \- Everted ears \- Posteriorly rotated ears \- Hyperfolded ears \- Sensorineural hearing impairment (less common) Eyes \- Epicanthal folds \- Hypertelorism \- Upslanting palpebral fissures \- Exotropia (less common) \- Ptosis \- Optic atrophy Nose \- Flat, broad nasal bridge \- Depressed nasal bridge \- Triangular nasal tip \- Anteverted nostrils Mouth \- 'Carp-like' mouth \- Open mouth \- Macrostomia \- Short, thin upper lip \- Inverted V-shaped upper lip \- Prominent lower lip \- High-arched palate \- Protruding tongue \- Drooling Teeth \- Widely-spaced upper incisors Neck \- Short neck (less common) ABDOMEN Gastrointestinal \- Gastroesophageal reflux \- Vomiting \- Constipation \- Gut dysmotility GENITOURINARY External Genitalia (Male) \- Hypogonadism \- Small testes \- Hypoplastic scrotum \- Micropenis \- Hypospadias Internal Genitalia (Male) \- Cryptorchidism Kidneys \- Renal hypoplasia (less common) Bladder \- Vesicoureteral reflux (less common) SKELETAL \- Delayed bone age Spine \- Kyphoscoliosis (approximately 30%) Limbs \- Genua valga Hands \- Slender, tapering fingers \- Brachydactyly \- Clinodactyly of isolated digits Feet \- Talipes equinovarus \- Talipes calcaneovalgus \- Pes planus NEUROLOGIC Central Nervous System \- Mental retardation, severe, profound \- Hypotonia, early \- Hypertonia of lower limbs, later \- Hyperreflexia \- Seizures (in 35%) Behavioral Psychiatric Manifestations \- Paroxysmal bursts of laughter \- Repetitive, self-stimulatory behavior using upper limbs \- Fingers in mouth \- Hyperactivity \- Self-absorbed HEMATOLOGY \- Absence of Hb H inclusions in red blood cells MISCELLANEOUS \- Variable phenotype \- Alpha-thalassemia/mental retardation syndrome ( 301040 ) is an allelic disorder MOLECULAR BASIS \- Caused by mutations in the helicase-2 gene (XH2, 300032.0011 ) ▲ 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 inhibitors [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-aminobutyric 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	MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1	c0796159	27,639	omim	https://www.omim.org/entry/309580	2019-09-22T16:17:45	{"mesh": ["C537445"], "omim": ["309580"], "orphanet": ["93970", "93971", "93975", "73220", "93974", "93973", "93972"], "synonyms": ["SMITH-FINEMAN-MYERS SYNDROME 1", "HOLMES-GANG SYNDROME", "CHUDLEY-LOWRY SYNDROME", "XLMR-HYPOTONIC FACIES SYNDROME", "SFMS", "Alternative titles", "CARPENTER-WAZIRI SYNDROME", "Chudley-Lowry syndrome"]}
A number sign (#) is used with this entry because of evidence that periventricular nodular heterotopia-6 (PVNH6) is caused by heterozygous mutation in the ERMARD gene (615532) on chromosome 6q27. One such family has been reported. Clinical Features Conti et al. (2013) reported a 7-year-old girl with delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia at age 3 months. Brain MRI showed bilateral periventricular nodular heterotopia in the frontal horns. Cytogenetics By array CGH of 155 patients with brain malformations, Conti et al. (2013) identified 12 patients with heterozygous deletions of chromosome 6q27 involving the ERMARD gene. Eight of the deletions occurred de novo, and 2 were inherited from an affected parent. The size of the deletions varied, but all shared a common 1.2-Mb deleted region containing 4 known genes (DLL1, 606582; PHF10, 613069; TCTE3, 186977; and THBS2, 188061) and 2 predicted genes (ERMARD and WDR27). Developmental brain abnormalities were variable and included periventricular nodular heterotopia, hypoplastic corpus callosum, colpocephaly, polymicrogyria, under-rotated or hypoplastic hippocampi, and cerebellar hypoplasia. Associated clinical manifestations included epilepsy (9/12), developmental delay (12/12), ataxic or clumsy gait (6/12), joint laxity, and facial dysmorphism (10/12). Silencing of the Ermard gene in the developing rat neocortex produced periventricular nodular heterotopia, whereas silencing of the contiguous Phf10 or Dll1 genes only produced slightly delayed migration, but not periventricular nodular heterotopia. Conti et al. (2013) suggested that the complex brain phenotype and additional clinical features observed in these patients likely resulted from the combined haploinsufficiency of contiguous genes. Molecular Genetics In a girl with periventricular nodular heterotopia-6, Conti et al. (2013) identified a de novo heterozygous missense mutation in the ERMARD gene (I250N; 615532.0001). The mutation was found by whole-exome sequencing of 14 unrelated patients with isolated bilateral PVNH who did not carry copy number variations. Expression of the mutant protein in HEK293 cells resulted in a predominantly dispersed pattern of staining, suggesting that the mutation alters the subcellular localization. Western blot analysis showed markedly reduced mutant protein levels compared to wildtype (58% reduction for the longer isoform and 12% reduction for the shorter isoform). Animal Model Using in utero electroporation, Conti et al. (2013) demonstrated that knockdown of C6orf70 in developing rat brain caused a massive neuronal migration defect, significant arrest of cells within the ventricular zone, and development of heterotopic nodules along the walls of the lateral ventricles. Coexpression of human C6ORF70, which was resistant to the C6orf70 knockdown construct, prevented migration arrest in the ventricular zone. INHERITANCE \- Autosomal dominant HEAD & NECK Eyes \- Strabismus NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Seizures \- Delayed speech \- Hypsarrhythmia \- Periventricular nodular heterotopia MISCELLANEOUS \- One patient has been reported (last curated November 2013) MOLECULAR BASIS \- Caused by mutation in the endoplasmic reticulum membrane-associated RNA degradation protein gene (ERMARD, 615532.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	PERIVENTRICULAR NODULAR HETEROTOPIA 6	c1868720	27,640	omim	https://www.omim.org/entry/615544	2019-09-22T15:51:41	{"doid": ["0050454"], "mesh": ["D054091"], "omim": ["615544"], "orphanet": ["98892", "2149"]}
This article relies largely or entirely on a single source. Relevant discussion may be found on the talk page. Please help improve this article by introducing citations to additional sources. Find sources: "Splenic lymphoma with villous lymphocytes" – news · newspapers · books · scholar · JSTOR (May 2010) Splenic lymphoma with villous lymphocytes is a rare type of lymphoma that involves mature B cells. Older names include lymphoma simulating hairy cell leukemia and lymphoplasmacytic lymphoma with circulating villous lymphocytes. The characteristic villous lymphocytes will appear in a blood smear of the peripheral blood of patients with this type of lymphoma. These lymphocytes will have an oval nucleus with the “cobblestone” pattern of nuclear chromatin typical of more mature lymphoid cells. The cytoplasmic projections, or villi, are found in a polar distribution.[1] [2] Whether this condition is identical to splenic marginal zone lymphoma, or only highly similar, is a matter of debate. ## References[edit] 1. ^ Maslak, Peter (1 September 2007). "Splenic villous lymphoma—peripheral blood". Blood (110 (5): 1410): 1. Retrieved 9 May 2020. 2. ^ Wu ML, Kwaan HC, Goolsby CL (November 2000). "Atypical hairy cell leukemia". Arch. Pathol. Lab. Med. 124 (11): 1710–3. doi:10.1043/0003-9985(2000)124<1710:AHCL>2.0.CO;2 (inactive 2021-01-11). PMID 11079033.CS1 maint: DOI inactive as of January 2021 (link) This oncology 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 inhibitors [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-aminobutyric 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	Splenic lymphoma with villous lymphocytes	c0349632	27,641	wikipedia	https://en.wikipedia.org/wiki/Splenic_lymphoma_with_villous_lymphocytes	2021-01-18T18:57:50	{"umls": ["CL109696"], "wikidata": ["Q7578545"]}
A number sign (#) is used with this entry because of evidence that prostate cancer is associated with variation in the EHBP1 gene (609922) on chromosome 2p15. For a general discussion of hereditary prostate cancer, see 176807. Mapping Gudmundsson et al. (2008) conducted a genomewide single-nucleotide polymorphism (SNP) association study on prostate cancer on over 23,000 Icelanders, followed by a replication study including over 15,500 individuals from Europe and the United States. They identified a novel variant that was associated with prostate cancer: the A allele of rs721048 on 2p15 (odds ratios (OR) = 1.15, p = 7.7 x 10(-9)). The SNP rs721048 is located within one of the introns in the EHBP1 gene (609922.0001), which has been implicated in endocytic trafficking. RT-PCR analysis detected expression of EHBP1 in several different tissue libraries, including those derived from the prostate. The rs721048 A allele showed a significantly stronger association with more aggressive forms 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 inhibitors [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-aminobutyric 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	PROSTATE CANCER, HEREDITARY, 12	c2931456	27,642	omim	https://www.omim.org/entry/611868	2019-09-22T16:02:46	{"doid": ["10283"], "mesh": ["C537243"], "omim": ["611868"], "orphanet": ["1331"]}
## Description Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005). Clinical Features Hirayama et al. (1959) first described juvenile muscular atrophy of an upper extremity in Japanese patients. Hirayama (1972) reported 38 patients with juvenile nonprogressive muscular atrophy confined to the hand and forearm. Gucuyener et al. (1991) described a brother and sister, 6 and 8 years of age, respectively, with proximal muscle weakness confined to 1 arm. Electrophysiologic studies suggested localized chronic anterior horn cell disease. The authors suggested autosomal recessive inheritance in this family. In the girl, the weakness and atrophy began in the left arm at 4 years of age, 3 months after the injection of DTP vaccine into that arm; in the boy, onset of weakness and atrophy of the right arm occurred 1 year after injection of DTP into the same arm. The benign nature, unilateral atrophy confined to the muscles of 1 limb, and the restriction of the disease to a few cervicodorsal segments even after many years, distinguishes monomelic amyotrophy from progressive spinal muscular atrophy (see, e.g., SMA1, 253300). In 20% of patients with neuralgic amyotrophy (see 162100), previous immunization with tetanus toxoid had been recorded, but in that disorder the onset of symptoms is explosive with great pain; weakness begins after the pain subsides. Although there was a history of DTP vaccination in both patients, Gucuyener et al. (1991) pointed out that in their patients, the clinical course was not compatible with neuralgic amyotrophy. Delayed post-poliomyelitis syndrome, which begins many years after recovery from acute paralytic poliomyelitis, was considered unlikely because the patients had been vaccinated for polio and had no history of poliomyelitis during infancy, and also because of their young ages. Nalini et al. (2004) reported an Indian mother and son with unilateral monomelic amyotrophy. The son presented at age 21 with a 3-year history of gradually progressive weakness and wasting of the small muscles of the left hand and forearm, manifest as an inability to perform fine work, like buttoning and gripping objects firmly. One year after disease onset, he developed fasciculations over the left arm and forearm followed by tremulousness of the hand and clawing. He also experienced exacerbation of motor weakness on exposure to cold. The illness reached a stationary phase after about a year. The patient's mother had onset of cold-induced paresis in the right hand at age 20 years, which progressed to weakness and wasting of the hand and forearm muscles 10 years later. Physical exam in both patients showed mild wasting and weakness of the affected hand and upper limb, with sparing of the brachioradial muscle. EMG in both patients suggested chronic denervation with reinnervation. Although MRI of the spinal cord was normal in the son, MRI in the mother showed signal changes at C4-C5. Rigamonti et al. (2004) reported a sporadic case of Hirayama disease in a 20-year-old Italian man. MRI showed unilateral anterior spinal cord atrophy from C5 to C7. The authors noted that the condition may be caused by neck flexion-induced ischemic myelopathy confined to the lower cervical cord. Misra et al. (2005) reported 15 male patients with Hirayama disease from 14 Indian families; 2 patients were brothers. Mean age at disease onset was 18 years (range, 15 to 23 years), and disease duration was approximately 6 months to 2 years. All patients had unilateral upper limb weakness, which became bilateral in 8 patients. Six patients had cold paresis. EMG showed fibrillations in 10 patients, fasciculations in all patients, and neurogenic changes restricted to the C7, C8, and T1 myotomes in all patients. Nerve conduction velocities of the median and ulnar nerves were normal in 13 patients. Median spinal MRI showed cervical cord atrophy in 7 of 11 patients; 3 patients had a normal MRI. Jeannet et al. (2005) reported a 10-year-old girl with Hirayama disease affecting the left hand and forearm. Cervical MRI was normal. Since infancy, the patient had exhibited a rhythmic movement disorder during sleep in which she rocked back and forth, flexing her neck violently and repeatedly. On the advice of the authors, the parents awakened the patient at the start of body rocking, and the behavior disappeared within 2 weeks and did not recur. At 3-year follow-up, she had no progression of symptoms in her hand and forearm. Jeannet et al. (2005) noted that the onset of symptoms of Hirayama disease in this girl corresponded to the onset of the adolescent growth spurt. They postulated that disproportionate shortening of the dorsal roots combined with severe repeated neck flexion contributed to the symptoms. ### Pathologic Findings Hirayama et al. (1987) reported the neuropathologic findings in a patient with a 23-year history of Hirayama disease. Anterior horn cells of spinal cord levels C5-T1 showed shrinkage, degeneration, and necrosis with mild gliosis. The changes were particularly marked at C7 and C8. The authors suggested circulatory insufficiency in these areas. Inheritance Gucuyener et al. (1991) stated that monomelic amyotrophy most often occurs sporadically; however, Hirayama (1972) and Sobue et al. (1978) reported familial cases. The family of Sobue et al. (1978) had affected father and son. Schlegel et al. (1987) reported a Caucasian man and son with focal muscular atrophy of the upper limb, suggesting autosomal dominant inheritance. Both father and son had onset at age 16 years. Tandan et al. (1990) reported identical male twins with chronic segmental spinal muscular atrophy confined to the upper extremities, suggesting a genetic etiology in a subset of cases. Age at onset was 16 and 17 years, respectively. Nalini et al. (2004) stated that there had been 5 reports of familial monomelic amyotrophy reported in the English literature: 5 families suggested autosomal recessive inheritance and 2 suggested autosomal dominant inheritance. Of 190 cases seen over 27 years, Nalini et al. (2004) identified only 1 instance of a familial case in a mother and son. Molecular Genetics ### Associations Pending Confirmation By whole-exome sequencing of 4 unrelated Korean boys with monomelic amyotrophy, followed by selective genotyping of candidate variants in 24 patients, Lim et al. (2012) found a significant association between the disorder and 2 SNPs in 2 different genes compared to controls: a gly668-to-ser (G668S; rs76022391) variant in the KIAA1377 gene (614634) on chromosome 11q22 (odds ratio (OR) of 4.62, p = 0.0040), and a pro1794-to-leu (P1794L; rs75589774) variant in the C5ORF42 gene (614571) on chromosome 5p13 (OR of 4.63, p = 0.0040). Four of the patients with the G668S variant carried it on the same haplotype, suggesting a common origin. However, only 1 copy of the causal variant in either gene did not affect risk for the development of the disorder: significant association for the disorder was only found with a combination of heterozygosity for both variants (OR of 61.99, p = 1.4 x 10(-5)) or with homozygosity for the KIAA1377 variant (OR of 41). The data suggested that KIAA1377 and C5ORF42 may synergistically play a role as susceptibility genes for monomelic amyotrophy. ### Exclusion Studies Di Guglielmo et al. (1996) excluded deletions in the SMN1 (600354) and SMN2 (601627) genes in 7 patients with monomelic amyotrophy. Misra et al. (2005) excluded deletions in the SMN1 and SMN2 genes in 15 males with Hirayama disease. They noted a preponderance of males with the condition and suggested a role for the X chromosome. INHERITANCE \- Isolated cases MUSCLE, SOFT TISSUES \- Muscle weakness restricted to the upper limb \- Muscle atrophy restricted to the upper limb \- Interosseus muscles involved \- Dorsal and flexor muscles of the forearm are involved \- Amyotrophy affects C5 to T1 myotomes \- Sparing of the brachioradialis muscle (gives appearance of 'oblique amyotrophy') \- Symptoms are progressive for a few years, and then become stationary \- Usually a unilateral disorder \- A subset of patients develop bilateral weakness \- A subset of patients have aggravation on cold exposure ('cold paresis') \- EMG shows fasciculations \- EMG shows neurogenic changes consistent with denervation \- EMG shows fibrillations \- Minipolymyoclonus \- Normal nerve conduction studies \- Normal sensation \- MRI may show cervical spinal cord atrophy MISCELLANEOUS \- Insidious onset \- Average age at onset 18 years (range 15 to 25 years) \- More common in males \- Generally benign disorder \- Most cases are sporadic \- Mode of inheritance is uncertain ▲ 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 inhibitors [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-aminobutyric 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	AMYOTROPHY, MONOMELIC	c1865384	27,643	omim	https://www.omim.org/entry/602440	2019-09-22T16:13:50	{"mesh": ["C538253"], "omim": ["602440"], "orphanet": ["65684"], "synonyms": ["Alternative titles", "HIRAYAMA DISEASE", "SPINAL MUSCULAR ATROPHY, JUVENILE, NONPROGRESSIVE"]}
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss. ## Epidemiology The syndrome was described in 1990 in two patients from the same Yemenite family. ## Clinical description A brother and sister were described as having cutaneous patchy hypo- and hyperpigmentation on the trunk and extremities, gray hair, white brows and lashes. Ocular manifestations were microcornea, coloboma, and abnormalities of the anterior chamber of the eye. Both patients had severe hearing loss and dental abnormalities. Intelligence was reported to be normal. Their parents were unaffected and possibly consanguineous. ## Etiology The cause of this syndrome has not been determined. ## Genetic counseling The inheritance pattern appears to be autosomal recessive. [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitors [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-aminobutyric 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	Deaf blind hypopigmentation syndrome, Yemenite type	c1866425	27,644	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3214	2021-01-23T19:03:09	{"gard": ["5535"], "mesh": ["C536771"], "omim": ["601706"], "umls": ["C1866425"], "synonyms": ["Warburg-Thomsen syndrome", "Yemenite deaf-blind hypopigmentation syndrome"]}
## Clinical Features Gibson and Carroll (1970) described congenital pseudarthrosis of the clavicle in at least 12 members of 3 generations of a family, with male-to-male transmission. All affected persons were of 'short stature and several of them had a high palatal arch and irregular upper dentition.' Thus, it is not certain that this disorder is distinct from cleidocranial dysplasia (119600). Ahmadi and Steel (1977) found reports of 102 cases. They commented that the frequency of bilateral involvement was about 10%. Further, they wrote: 'one of the striking and interesting features of the disease is the marked predominance for the right side. In fact, there is only one documented case of a left-sided congenital pseudarthrosis of the clavicle. However, this case was associated with dextrocardia.' They noted that the clavicle is the first bone to ossify. They reported 5 cases, of which 3 represented the very rare form of left-sided involvement with dextrocardia. Schnall et al. (1988) reported 6 symptomatic children with unilateral pseudarthrosis of the clavicle. All cases were sporadic. The authors reported that the anomaly is 'commonly seen' in their neonatal intensive care unit. Most of these presumably 'heal' by themselves. Cytogenetics Shahdadpuri et al. (2008) reported a boy with congenital unilateral pseudoarthrosis of the clavicle and multiple other problems, including global developmental delay, hearing loss, myopia, optic nerve hypoplasia, thin corpus callosum, and a 'beaten copper' appearance of the cranium without craniosynostosis. He also had deep-set eyes, malformed ears, and congenital heart defects. Cytogenetic analysis identified a de novo 10-Mb deletion of chromosome 10p12.1-p11.21, containing over 50 genes. Skel \- Congenital pseudoarthrosis of clavicle Growth \- Short stature Mouth \- High arched palate Inheritance \- Autosomal dominant \- ? variant cleidocranial dysplasia (119600) Teeth \- Irregular upper teeth ▲ 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 inhibitors [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-aminobutyric 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	CLAVICLE, PSEUDARTHROSIS OF, CONGENITAL	c0265565	27,645	omim	https://www.omim.org/entry/118980	2019-09-22T16:43:17	{"mesh": ["C562548"], "omim": ["118980"], "icd-10": ["Q74.0"], "orphanet": ["66630"]}
Eagle syndrome Other namesStyloid syndrome Anteroposterior and lateral radiographs of cervical spine showing ossification of the stylohyoid ligament on both sides Eagle syndrome (also termed stylohyoid syndrome,[1] styloid syndrome,[2] styloid-stylohyoid syndrome,[2] or styloid–carotid artery syndrome)[3] is a rare condition commonly characterized but not limited to sudden, sharp nerve-like pain in the jaw bone and joint, back of the throat, and base of the tongue, triggered by swallowing, moving the jaw, or turning the neck. Since the brain to body's nerve connections pass through the neck, many seemingly random symptoms can be triggered by impingement or entanglement.[1] First described by American otorhinolaryngologist Watt Weems Eagle in 1937,[4] the condition is caused by an elongated or misshapen styloid process (the slender, pointed piece of bone just below the ear) and/or calcification of the stylohyoid ligament, either of which interferes with the functioning of neighboring regions in the body, giving rise to pain.[citation needed] ## Contents * 1 Signs and symptoms * 2 Cause * 3 Diagnosis * 4 Treatment * 5 Epidemiology * 6 History * 7 References * 8 External links ## Signs and symptoms[edit] Possible symptoms include: * Sharp, shooting pain in the jaw, back of the throat, base of the tongue,[1] ears, neck, and/or face[5] * Difficulty swallowing[5] * Sensation of having a foreign object in throat[5] * Pain from chewing, swallowing, turning the neck, or touching the back of the throat[6] * Ringing or buzzing in the ears Classic eagle syndrome is present on only one side, however, rarely, it may be present on both sides.[5] In vascular Eagle syndrome, the elongated styloid process comes in contact with the internal carotid artery below the skull. In these cases, turning the head can cause compression of the artery or a tear inside the blood vessel, which restricts blood flow and can potentially lead to a transient ischemic attack (TIA) or stroke.[5] Sometimes, compression of the internal jugular vein can also occur and might lead to increased intracranial pressure. [7][8][9] ## Cause[edit] Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament. However, the cause of the elongation hasn’t been known clearly. It could occur spontaneously or could arise since birth. Usually normal stylohyoid process is 2.5–3 cm in length, if the length is longer than 3 cm, it is classified as an elongated stylohyoid process.[10] ## Diagnosis[edit] This section needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the section and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Eagle syndrome" – news · newspapers · books · scholar · JSTOR (June 2016) * Radiograph, lateral view showing elongated stylohyoid process and stylohyoid ligament ossification * Radiograph, lateral view showing joint-like formation in ossified stylohyoid ligament * CT scan, coronal section showing bilateral extended styloid process and stylohyoid ligament ossification (incidental finding) * 3D-reconstructed CT scan showing bilateral stylohyoid ligament ossification * 3D reconstructed CT scan showing elongated styloid process (right side) Diagnosis is suspected when a patient presents with the symptoms of the classic form of "Eagle syndrome" e.g. unilateral neck pain, sore throat or tinnitus. Sometimes the tip of the styloid process is palpable in the back of the throat. The diagnosis of the vascular type is more difficult and requires an expert opinion. One should have a high level of suspicion when neurological symptoms occur upon head rotation. Symptoms tend to be worsened on bimanual palpation of the styloid through the tonsillar bed. They may be relieved by infiltration of lidocaine into the tonsillar bed. Because of the proximity of several large vascular structures in this area this procedure should not be considered to be risk free. Imaging is important and is diagnostic. Visualizing the styloid process on a CT scan with 3D reconstruction is the suggested imaging technique.[11] The enlarged styloid may be visible on an orthopantogram or a lateral soft tissue X ray of the neck. ## Treatment[edit] In both the classic and vascular form, the treatment is surgical.[12] A partial styloidectomy is the preferred approach. Repair of a damaged carotid artery is essential in order to prevent further neurological complications.[citation needed] Regrowth of the stylohyoid process and relapse being a common occurrence is debatable.[6] Medical management may include the use of pain and anti-inflammatory medications, antidepressants, and/or corticosteroids. The overall success rate for treatment (medical or surgical) is about 80%.[13] ## Epidemiology[edit] Approximately 4% of the general population have an elongated styloid process, and of these about 4% give rise to the symptoms of Eagle syndrome.[4] Therefore, the incidence of stylohyoid syndrome may be about 0.16%.[4] Patients with this syndrome tend to be between 30 and 50 years of age but it has been recorded in teenagers and in patients > 75 years old. It is more common in women, with a male:female ratio ~ 1:2.[citation needed] ## History[edit] The condition was first described by American otorhinolaryngologist Watt Weems Eagle in 1937.[4] ## References[edit] 1. ^ a b c Waldman SD (6 June 2013). Atlas of Uncommon Pain Syndromes. Elsevier Health Sciences. pp. 35–36. ISBN 978-1-4557-0999-1. 2. ^ a b Bumann A; Lotzmann U (2002). TMJ Disorders and Orofacial Pain: The Role of Dentistry in a Multidisciplinary Diagnostic Approach. Thieme. p. 279. ISBN 978-1-58890-111-8. 3. ^ Hoffmann, E.; Räder, C.; Fuhrmann, H.; Maurer, P. (2013). "Styloid–carotid artery syndrome treated surgically with Piezosurgery: A case report and literature review". Journal of Cranio-Maxillofacial Surgery. 41 (2): 162–166. doi:10.1016/j.jcms.2012.07.004. PMID 22902881. 4. ^ a b c d Petrović, B; Radak, D; Kostić, V; Covicković-Sternić, N (2008). "[Styloid syndrome: a review of literature]". Srpski Arhiv Za Celokupno Lekarstvo. 136 (11–12): 667–74. doi:10.2298/sarh0812667p. PMID 19177834. 5. ^ a b c d e Kamal, A; Nazir, R; Usman, M; Salam, BU; Sana, F (November 2014). "Eagle syndrome; radiological evaluation and management". JPMA. The Journal of the Pakistan Medical Association. 64 (11): 1315–7. PMID 25831655. 6. ^ a b Scully C (21 July 2014). Scully's Medical Problems in Dentistry. Elsevier Health Sciences UK. ISBN 978-0-7020-5963-6. 7. ^ Li, Min; Sun, Yuan; Chan, Chong Ching; Fan, Chunqiu; Ji, Xunming; Meng, Ran (2019-06-04). "Internal jugular vein stenosis associated with elongated styloid process: five case reports and literature review". BMC Neurology. 19 (1): 112. doi:10.1186/s12883-019-1344-0. ISSN 1471-2377. PMC 6549290. PMID 31164090. 8. ^ Dashti, S. R.; Nakaji, P.; Hu, Y. C.; Frei, D. F.; Abla, A. A.; Yao, T.; Fiorella, D. (March 2012). "Styloidogenic jugular venous compression syndrome: diagnosis and treatment: case report". Neurosurgery. 70 (3): E795-9. doi:10.1227/NEU.0b013e3182333859. PMID 21866063. 9. ^ Aydin, E.; Quliyev, H.; Cinar, C.; Bozkaya, H.; Oran, I. (2018). "Eagle Syndrome Presenting with Neurological Symptoms". Turk Neurosurg. 28 (2): 219–225. doi:10.5137/1019-5149.JTN.17905-16.6. PMID 27858390. 10. ^ Raina D, Gothi R, Rajan S (2009). "Eagle syndrome". Indian J Radiol Imaging. 19 (2): 107–8. doi:10.4103/0971-3026.50826. PMC 2765187. PMID 19881063. 11. ^ Karam C, Koussa S (December 2007). "[Eagle syndrome: the role of CT scan with 3D reconstructions]". J Neuroradiol (in French). 34 (5): 344–5. doi:10.1016/j.neurad.2007.08.001. PMID 17997158. 12. ^ Orhan KS, Güldiken Y, Ural HI, Cakmak A (April 2005). "[Elongated styloid process (Eagle's syndrome): literature review and a case report]". Agri (in Turkish). 17 (2): 23–5. PMID 15977090. 13. ^ "Eagle syndrome". rarediseases. Genetic and rare diseases information center. Retrieved 17 April 2018. ## External links[edit] Classification D * MeSH: C538010 * DiseasesDB: 33542 External resources * eMedicine: article/1447247 Wikimedia Commons has media related to Eagle syndrome. * v * t * e Oral and maxillofacial pathology Lips * Cheilitis * Actinic * Angular * Plasma cell * Cleft lip * Congenital lip pit * Eclabium * Herpes labialis * Macrocheilia * Microcheilia * Nasolabial cyst * Sun poisoning * Trumpeter's wart Tongue * Ankyloglossia * Black hairy tongue * Caviar tongue * Crenated tongue * Cunnilingus tongue * Fissured tongue * Foliate papillitis * Glossitis * Geographic tongue * Median rhomboid glossitis * Transient lingual papillitis * Glossoptosis * Hypoglossia * Lingual thyroid * Macroglossia * Microglossia * Rhabdomyoma Palate * Bednar's aphthae * Cleft palate * High-arched palate * Palatal cysts of the newborn * Inflammatory papillary hyperplasia * Stomatitis nicotina * Torus palatinus Oral mucosa – Lining of mouth * Amalgam tattoo * Angina bullosa 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hard tissues – Bones of jaws * Agnathia * Alveolar osteitis * Buccal exostosis * Cherubism * Idiopathic osteosclerosis * Mandibular fracture * Microgenia * Micrognathia * Intraosseous cysts * Odontogenic: periapical * Dentigerous * Buccal bifurcation * Lateral periodontal * Globulomaxillary * Calcifying odontogenic * Glandular odontogenic * Non-odontogenic: Nasopalatine duct * Median mandibular * Median palatal * Traumatic bone * Osteoma * Osteomyelitis * Osteonecrosis * Bisphosphonate-associated * Neuralgia-inducing cavitational osteonecrosis * Osteoradionecrosis * Osteoporotic bone marrow defect * Paget's disease of bone * Periapical abscess * Phoenix abscess * Periapical periodontitis * Stafne defect * Torus mandibularis Temporomandibular joints, muscles of mastication and malocclusions – Jaw joints, chewing muscles and bite abnormalities * Bruxism * Condylar resorption * Mandibular dislocation * Malocclusion * Crossbite * Open bite * Overbite * Overeruption * Overjet * Prognathia * Retrognathia * Scissor bite * Maxillary hypoplasia * Temporomandibular joint dysfunction Salivary glands * Benign lymphoepithelial lesion * Ectopic salivary gland tissue * Frey's syndrome * HIV salivary gland disease * Necrotizing sialometaplasia * Mucocele * Ranula * Pneumoparotitis * Salivary duct stricture * Salivary gland aplasia * Salivary gland atresia * Salivary gland diverticulum * Salivary gland fistula * Salivary gland hyperplasia * Salivary gland hypoplasia * Salivary gland neoplasms * Benign: Basal cell adenoma * Canalicular adenoma * Ductal papilloma * Monomorphic adenoma * Myoepithelioma * Oncocytoma * Papillary cystadenoma lymphomatosum * Pleomorphic adenoma * Sebaceous adenoma * Malignant: Acinic cell carcinoma * Adenocarcinoma * Adenoid cystic carcinoma * Carcinoma ex pleomorphic adenoma * Lymphoma * Mucoepidermoid carcinoma * Sclerosing polycystic adenosis * Sialadenitis * Parotitis * Chronic sclerosing sialadenitis * Sialectasis * Sialocele * Sialodochitis * Sialosis * Sialolithiasis * Sjögren's syndrome Orofacial soft tissues – Soft tissues around the mouth * Actinomycosis * Angioedema * Basal cell carcinoma * Cutaneous sinus of dental origin * Cystic hygroma * Gnathophyma * Ludwig's angina * Macrostomia * Melkersson–Rosenthal syndrome * Microstomia * Noma * Oral Crohn's disease * Orofacial granulomatosis * Perioral dermatitis * Pyostomatitis vegetans Other * Eagle syndrome * Hemifacial hypertrophy * Facial hemiatrophy * Oral manifestations of systemic disease * v * t * e Medicine Specialties and subspecialties Surgery * Cardiac surgery * Cardiothoracic surgery * Colorectal surgery * Eye surgery * General surgery * Neurosurgery * Oral and maxillofacial surgery * Orthopedic surgery * Hand surgery * Otolaryngology * ENT * Pediatric surgery * Plastic surgery * Reproductive surgery * Surgical oncology * Transplant surgery * Trauma surgery * Urology * Andrology * Vascular surgery Internal medicine * Allergy / Immunology * Angiology * Cardiology * 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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 inhibitors [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-aminobutyric 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	Eagle syndrome	c1868714	27,646	wikipedia	https://en.wikipedia.org/wiki/Eagle_syndrome	2021-01-18T18:43:08	{"gard": ["9401"], "mesh": ["C538010"], "umls": ["C1868714"], "wikidata": ["Q628648"]}
Best vitelliform macular dystrophy (BVMD) is a slowly progressive form of macular degeneration. It usually begins in childhood or adolescence, but age of onset and severity of vision loss can vary. Affected people first have normal vision, followed by decreased central visual acuity and distorted vision (metamorphopsia). Peripheral vision is not affected. BVMD is characterized by atrophy of the retinal pigment epithelium (The retina is the back part of the eye that contains the specialized cells that respond to light, known as photoreceptors) and impaired central visual function. BVMD is usually inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported. The condition is typically caused by mutations in the BEST1 gene; in a few cases the cause is unknown. Treatment is symptomatic and involves the use of low vision aids, and direct laser treatment or photodynamic therapy. Newer treatment includes anti-VEGF agents (bevacizumab) and transcorneal electrical retinal stimulation. [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 inhibitors [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-aminobutyric 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	Best vitelliform macular dystrophy	c0339510	27,647	gard	https://rarediseases.info.nih.gov/diseases/182/best-vitelliform-macular-dystrophy	2021-01-18T18:01:49	{"mesh": ["D057826"], "omim": ["153700"], "orphanet": ["1243"], "synonyms": ["Best disease", "Best macular dystrophy", "Macular degeneration, polymorphic vitelline", "Vitelliform macular dystrophy type 2", "VMD2", "BVMD", "Early-onset vitelliform macular dystrophy", "Juvenile-onset vitelliform macular dystrophy", "Polymorphic vitelline macular degeneration"]}
## Clinical Features Ramos-Arroyo et al. (1987) described a sister and brother with a seemingly 'new' syndrome consisting of hypesthetic corneas, absence of peripapillary choriocapillaris and retinal pigment epithelium, bilateral sensorineural hearing loss, persistent ductus arteriosus (see 607411), moderate mental retardation, and unusual facial appearance consisting of hypertelorism, flat facial profile, frontal bossing, depressed nasal bridge, and midfacial hypoplasia. The mother had mild to moderate sensorineural hearing loss, retinal changes, and somewhat similar facial features. A large patent ductus arteriosus was closed surgically in the daughter but closed spontaneously in the son. Corneal anesthesia was a main factor in bringing the children to medical attention. Spurrier and Weaver (2008) reexamined the family originally described by Ramos-Arroyo et al. (1987), including 2 additional affected individuals. At age 18 years, the previously reported brother developed chronic constipation; anorectal manometry was consistent with a diagnosis of Hirschsprung disease, and colon biopsy showed ganglion cell heterotopia and hypoganglionosis in the right transverse colon. The sister had 4 children, the oldest and youngest of which were reported to have frontal bossing and midface hypoplasia, but no corneal anesthesia, hearing loss, heart defects, or gastrointestinal defects. Her middle son and daughter, aged 4.3 and 1.75 years, respectively, displayed the distinct facies, corneal anesthesia, and sensorineural hearing defect. The daughter also had an atrial septal defect, hydronephrosis of the right kidney, and apneic spells for which she underwent adenotonsillectomy, supraglottoplasty, and elective tracheostomy; the son had mental retardation and Hirschsprung disease. Chromosomal analysis and urine screen for metabolic disorders were normal in the brother and sister and the sister's affected son and daughter. Inheritance Spurrier and Weaver (2008) stated that the Ramos-Arroyo syndrome appeared to be an autosomal dominant disorder with incomplete penetrance. INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Weight \- Low weight (<3rd percentile) Other \- Failure to thrive HEAD & NECK Face \- Frontal bossing \- Midface hypoplasia \- Broad, flat facies Ears \- Sensorineural hearing loss \- Low-set ears Eyes \- Hypesthetic cornea \- Absent peripapillary choriocapillaris \- Absent retinal pigment epithelium \- Upslanting palpebral fissures \- Hypertelorism \- Flared eyebrows \- Corneal keratitis \- Poor visual acuity Nose \- Depressed nasal bridge \- Anteverted nares CARDIOVASCULAR Vascular \- Patent ductus arteriosus SKIN, NAILS, & HAIR Hair \- Flared eyebrows NEUROLOGIC Central Nervous System \- Mental retardation ▲ 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 inhibitors [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-aminobutyric 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	CORNEAL HYPESTHESIA WITH RETINAL ABNORMALITIES, SENSORINEURAL DEAFNESS, UNUSUAL FACIES, PERSISTENT DUCTUS ARTERIOSUS, AND MENTAL RETARDATION	c2930866	27,648	omim	https://www.omim.org/entry/122430	2019-09-22T16:42:52	{"mesh": ["C535286"], "omim": ["122430"], "orphanet": ["1051"], "synonyms": ["Alternative titles", "RAMOS-ARROYO SYNDROME"]}
Schonberger (1974) described severe dysphagia in father and son with multiple odontomas. An isolated case reported by Boder (1967) had the same combination. Hypertrophy of the smooth muscles of the esophagus was thought to be the cause of the dysphagia. Gorlin (1977) stated that the same family was reported by Schmidseder and Hausamen (1973). Mouth \- Odontoma Lab \- Esophageal smooth muscle hypertrophy GI \- Dysphagia 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 inhibitors [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-aminobutyric 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	ODONTOMA-DYSPHAGIA SYNDROME	c1834013	27,649	omim	https://www.omim.org/entry/164330	2019-09-22T16:37:18	{"mesh": ["C537740"], "omim": ["164330"], "orphanet": ["2724"]}
## Description Meniere disease is a chronic illness characterized by intermittent episodes of vertigo lasting from minutes to hours, with fluctuating sensorineural hearing loss, tinnitus, and aural pressure (Sajjadi and Paparella, 2008). Inheritance Bernstein (1965) reported 7 families with more than 1 case of episodic vertigo and hearing loss. In 1 family identical female twins and the daughter of one of the twins were affected. Three families also had migraine in certain members. In a review of 500 patients with Meniere disease, Paparella (1985) detected a 20% incidence of positive family history and suggested multifactorial etiology. In an exhaustive search for families with Meniere disease, Morrison (1995) identified 41 parent-child pairs with a mean 17.5-year difference in age at onset, favoring anticipation. In a population-based survey of 1,245 Spanish and Italian patients with Meniere disease, Requena et al. (2014) found that 431 (34%) reported a family history of hearing loss or recurrent vertigo, including 133 with possible Meniere disease. However, clinical reevaluation indicated definite Meniere disease in 93 relatives of 76 families. The data indicated that familial Meniere disease occurs in about 8% of patients. Three pairs of monozygotic twins were concordant for the disorder. Estimates of familial aggregation suggested that the disorder is 16 to 48 times more common in sibs and 4 to 12 times more common in offspring of affected individuals compared to the general population. The transmission in most families was consistent with autosomal dominant inheritance and incomplete penetrance. The findings were consistent with a genetic predisposition for the development of Meniere disease. Molecular Genetics ### Associations Pending Confirmation By whole-exome sequencing of a Spanish grandmother, mother, and daughter with Meniere disease, Requena et al. (2015) identified 2 novel heterozygous variants, one in the DTNA gene (601239) and the other in the FAM136A gene (616275); all 3 patients carried both variants. The V715F change in the DTNA gene resulted in a splice site alteration with the skipping of exon 21 and production of a shorter alternative transcript, and the Q76X truncating variant in the FAM136A gene resulted in a significant decrease in transcript levels of FAM136A in patient cells. Neither variant was found in the 1000 Genomes Project or Exome Variant Server databases, or in an in-house exome database of 1,000 cases of Meniere disease and 500 controls. Requena et al. (2015) postulated that the variation in these 2 genes contributed to the multifactorial etiology of Meniere disease in this family. Immunohistochemical studies showed that the Fam136a and Dtna proteins are expressed in the sensorineural epithelium of the crista ampullaris in the rat. In a Spanish family in which a man and his paternal uncle had Meniere disease, and the man's father exhibited an otosclerosis-like phenotype, Martin-Sierra et al. (2016) performed whole-exome sequencing and identified a heterozygous missense variant (c.275G-T; G92V) in exon 3 of the PRKCB gene (176970) in all 3 individuals. The mutation was not found in 2 family members who had episodic vestibular symptoms but no hearing loss. The proband had bilateral progressive hearing loss and tinnitus, whereas his affected uncle had unilateral hearing loss and intractable vertigo, for which he underwent labyrinthectomy. The authors concluded that PRKCB-related Meniere disease shows incomplete penetrance, and that additional genetic, epigenetic, or environmental factors were likely to have contributed to the vestibular phenotype in this family. ### Exclusion Studies Sanchez et al. (2004) found no differences in the nucleotide sequence of exons 4 and 5 of the COCH gene (603196) in 30 patients with definite Meniere disease compared to 30 controls; see DFNA9 (601369). INHERITANCE \- Autosomal dominant HEAD & NECK Ears \- Vertigo, episodic \- Hearing impairment, sensorineural, fluctuating \- Tinnitus \- Aural fullness MISCELLANEOUS \- Onset usually between 30 and 50 years of age \- Prevalence of 0.5 to 1 in 1,000 \- Incomplete penetrance ▲ 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 inhibitors [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-aminobutyric 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	MENIERE DISEASE	c0025281	27,650	omim	https://www.omim.org/entry/156000	2019-09-22T16:38:25	{"doid": ["9849"], "mesh": ["D008575"], "omim": ["156000"], "icd-9": ["386.00", "386.0"], "icd-10": ["H81.0", "H81.09"]}
A number sign (#) is used with this entry because of evidence that autosomal recessive mental retardation-37 (MRT37) is caused by homozygous mutation in the ANK3 gene (600465) on chromosome 10q21. One such family has been reported. Clinical Features Iqbal et al. (2013) reported 3 sibs, born of consanguineous Pakistani parents, with moderate intellectual disability (IQ less than 50). The patients were 25, 22, and 18 years of age at the time of the report. All had delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. All had severe behavioral abnormalities, including aggression, hyperactivity, and grinding of the teeth. One had seizures. They did not have dysmorphic features. CT scans of 2 patients were unremarkable. Inheritance The transmission pattern in the family with MRT37 reported by Iqbal et al. (2013) was consistent with autosomal recessive inheritance. Molecular Genetics In 3 Pakistani sibs, born of consanguineous parents, with MRT37 and behavioral abnormalities, Iqbal et al. (2013) identified a homozygous frameshift mutation in the ANK3 gene (600465.0001). The mutation, which was found by homozygosity mapping and whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family. INHERITANCE \- Autosomal recessive MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Intellectual disability, moderate \- Spasticity \- Hypotonia \- Sleep disturbances \- Seizures (in 1 patient) Behavioral Psychiatric Manifestations \- Aggressive behavior \- Hyperactivity \- Teeth grinding MISCELLANEOUS \- One family has been reported (last curated October 2013) MOLECULAR BASIS \- Caused by mutation in the ankyrin 3 gene (ANK3, 600465.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 37	c3809672	27,651	omim	https://www.omim.org/entry/615493	2019-09-22T15:51:54	{"doid": ["0060308"], "omim": ["615493"], "orphanet": ["356996"], "synonyms": []}
Common sites of metastasis for breast cancer Metastatic breast cancer, also referred to as metastases, advanced breast cancer, secondary tumors, secondaries or stage IV breast cancer, is a stage of breast cancer where the breast cancer cells have spread to distant sites beyond the axillary lymph nodes. There is no cure for metastatic breast cancer;[1] it often can be effectively treated. There is no stage after IV. Metastases can occur several years after the primary breast cancer, although it is sometimes diagnosed at the same time as the primary breast cancer or, rarely, before the primary breast cancer has been diagnosed.[2] Metastatic breast cancer cells frequently differ from the preceding primary breast cancer in properties such as receptor status. The cells have often developed resistance to several lines of previous treatment and have acquired special properties that permit them to metastasize to distant sites. Metastatic breast cancer can be treated, sometimes for many years, but it cannot be cured.[2] Distant metastases are the cause of about 90% of deaths due to breast cancer.[3] Breast cancer can metastasize anywhere in body but primarily metastasizes to the bone, lungs, regional lymph nodes, liver and brain, with the most common site being the bone.[4] Treatment of metastatic breast cancer depends on location of the metastatic tumors and includes surgery, radiation, chemotherapy, biological, and hormonal therapy.[5] Typical environmental barriers in a metastatic event include physical (a basement membrane), chemical (reactive oxygen species or ROS, hypoxia and low pH) and biological (immune surveillance, inhibitory cytokines and regulatory extra-cellular matrix (ECM) peptides) components.[6] Organ-specific anatomic considerations also influence metastasis; these include blood-flow patterns from the primary tumor and the homing ability of cancer cells to certain tissues. The targeting by cancer cells of specific organs is probably regulated by chemo-attractant factors and adhesion molecules produced by the target organ, along with cell-surface receptors expressed by the tumor cells. ## Contents * 1 Symptoms * 1.1 Bone * 1.2 Brain * 2 Pathophysiology * 2.1 Extracellular matrix degradation in cancer * 2.2 Extracellular matrix components * 2.2.1 Fibrinogen-Integrin * 2.2.2 Heparanase * 2.2.3 Tenascin * 2.2.4 Endoglin * 2.3 Mechanisms in bone metastases * 2.4 Mechanism in brain metastasis * 2.4.1 CD44 * 2.4.2 Sialyl transferase (glycosylation modifications of gangliosides) * 2.5 Seed and soil hypothesis * 3 Workup * 4 Treatment * 4.1 Chemotherapy * 4.2 Tamoxifen and other anti-estrogens * 4.3 Radiotherapy * 4.4 Alternative therapies * 4.5 Experimental therapies * 4.6 Scheduling of drug treatments and impact on results * 5 Nanotherapies using nanoprobes * 6 Central nervous system metastases * 7 See also * 8 References ## Symptoms[edit] The symptoms produced by metastatic breast cancer vary by the location of the metastases.[7] For instance: * Metastatic disease to the bone causes severe, progressive pain, and, less commonly, pathological fracture, erythema over the affected bone, and swelling. * Metastatic breast cancer to the brain causes the following symptoms: persistent, progressively worsening headache, visual changes, seizures, nausea or vomiting, vertigo, behavioral and personality changes, and increased intracranial pressure. * Metastatic disease to the liver causes jaundice, elevated liver enzymes, abdominal pain, loss of appetite, nausea, and vomiting * Metastatic breast cancer to the lung or pleura causes chronic cough, dyspnea, abnormal chest X-ray, and chest pain. * Other nonspecific systemic symptoms of metastatic breast cancer include fatigue, malaise, weight loss, and poor appetite. * Sometimes people with metastatic breast cancer do not have any notable changes or symptoms.[8] ### Bone[edit] Roughly 70% of all patients living with advanced breast cancer have bone metastases[9] Very often bone metastases can be successfully managed for a long time. ### Brain[edit] Brain metastasis is observed in 10% of breast cancer patients with metastatic properties[10] Many of the breast cancer therapies (like targeted antibodies) fail to penetrate the blood–brain barrier, hence allowing for tumor recurrence in the central nervous system. ## Pathophysiology[edit] The main steps involved in the metastatic cascade of a cancer cell are: * Cell division and growth within the primary tumor * Invasion of the primary tumor border (basement membrane, or BM) and the tissue surrounding the tumor by the cell * Intravasation of the circulatory system: the cell enters the bloodstream or lymph channels. * The cell must survive the transit into the new environment, until it ultimately arrests in the microvasculature of the secondary site. * Extravasation to a distant site : The cell then invades into the BM of the target tissue. * Proliferation of the cancer cell at the metastatic site * Formation of a micrometastasis inside the secondary site * Progressive colonization, forming a life-threatening metastasis The potential of a tumor cell to metastasize depends on its microenvironment, or “niche” interactions with local factors promoting tumor-cell growth, survival, angiogenesis, invasion and metastasis.[11] This is explained by the seed and soil hypothesis. ### Extracellular matrix degradation in cancer[edit] Cell-cell and cell-ECM matrix adhesion, motility, and localised proteolysis are mediated mainly by matrix metalloproteases (MMPs). Degradation of the extracellular matrix begins the process of metastasis. The cell develops structures called invadopodia, which are highly concentrated in several proteases and have a highly dynamic actin cytoskeleton. Mechanisms of metalloprotease action in cell motility involve: * Proteolytic cleavage of growth factors, so they are readily available to cells not in direct physical contact * Degradation of the ECM is facilitated by MMPs, so cells can move across tissues into nearby stroma. * Regulated receptor cleavage to modulate migratory signaling Most of these processes require a delicate balance between the functions of matrix metalloproteases (MMPs) or metalloprotease-disintegrins (ADAMs) and natural tissue inhibitors of metalloproteases (TIMPs). Regulated proteolysis is an important mechanism to maintain homeostasis. There is increased expression of protease systems in cancer cells, to equip them with the tools necessary to degrade the extracellular matrix and release growth factors or transmembrane receptors. MMP-2 is upregulated in the bone, and increased levels of MMP-1 and MMP-19 are observed in the brain. This in turn, upregulates the signaling pathways necessary to provide increased cell adhesion, cell motility, cell migration, invasion, cancer- cell proliferation and survival. ### Extracellular matrix components[edit] ECM-tumor cell interactions play a critical role in each of the events of the metastatic cascade. Interactions of the breast cancer cells with integrins, fibronectin, laminins, collagens, hyaluronan and proteoglycans can contribute to the metastatic process. Some of these proteins are discussed here in relation to breast-cancer metastasis. #### Fibrinogen-Integrin[edit] Fibronectin is an extracellular glycoprotein that can bind to integrins and other ECM components like collagen, fibrin and heparan sulphate proteoglycans(HSPGs). Several different integrins bind to fibronectin. Fibronectin-integrin interactions are important in tumor cell migration, invasion, metastasis and cell proliferation by signaling through integrins. Integrin-mediated tumor cell adhesion to ECM proteins can trigger signal transduction and cause upregulation of gene expression, increased tyrosine phosphorylytion of the focal adhesion kinase, and activation and nuclear translocation of mitogen-activated protein (MAP) kinases. #### Heparanase[edit] Heparanase cleaves heparin sulfate chains of HSPGs, which have an extensive network with several proteins on the cell surface and ECM. The basic HSPG structure consists of a protein core to which several linear heparin sulfate (HS) chains are covalently O-linked; this acts as an assembly of different ECM proteins, including fibronectin, laminins, interstitial collagens, heparin-binding growth factors, chemokines and lipoproteins. HSPGs are prominent components of blood vessels.[12] to HS stabilizes fibroblast growth factors (FGFs) and vascular endothelial growth factors (VEGFs) and prevents them from inactivation. HS chains function as low-affinity co-receptors which promote dimerization of FGFs, aids in the sequestration of the growth factors (GFs) and causes activation of the signaling tyrosine kinase receptors even under low circulating concentrations of growth factors. Heparanase expressed by cancer cells participates in angiogenesis and neovascularization by degrading the polysaccharide scaffold of the endothelial BM, thereby releasing angiogenic growth factors from the ECM. #### Tenascin[edit] The ECM protein tenascin C (TNC) is up-regulated in metastatic breast cancer. TNC is an adhesion-modulating extracellular matrix glycoprotein. It is highly expressed in tumor stroma and stimulates tumor-cell proliferation. It is hypothesised that TNC stimulates invasion via up-regulation of MMP-1 expression through activation of the MAPK pathway. MMP-1 (interstitial collagenase) cleaves collagen type I, II, III, VII and X. Therefore, tenascin C over-expression can significantly alter collagen in the ECM and influence tumor cell migration in cartilaginous tissues. #### Endoglin[edit] Endoglin is a cell-surface disulfide-linked homodimeric glycoprotein which binds to integrins and other RGD ligands and is a co-receptor for TGF-beta. Brain-metastatic breast-tumor cells express endoglin in large amounts. Endoglin-overexpressing cells develop large numbers of invadopodia; endoglin is localized in these structures. Endoglin expression in tumor cells contributes to metastasis by upregulating MMP-1 and MMP-19. MMP-19 cleaves components of the basal lamina such as collagen type IV, laminin 5, nidogen (entactin) and other ECM proteins such as tenascin, aggrecan and fibronectin. Therefore, endoglin over-expression alters the proteolytic balance of the cells to greater matrix degradation and increased invasive properties of breast cancer. ### Mechanisms in bone metastases[edit] The primary extracellular matrix components and cell-surface receptors which aid in metastasis are: Integrin signalling Integrin αvβ3 (a cell-surface adhesion molecule) is important for tumor attachment, cell-to-cell communication between the breast tumor cells and the environment in bone, osteoclast bone resorption and angiogenesis. Integrin-mediated adhesion between cancer cells and osteoclasts in bone metastases induces phosphorylation of extracellular signal-regulated kinases (ERK1/2) in osteoclasts, which in turn induces osteoclast differentiation and survival.[13] Cancer cell-blood platelet interaction Metastatic breast-cancer cells excrete lysophosphatidic acid (LPA) which binds to receptors on tumor cells, inducing cell proliferation and release of cytokines(IL-6 and IL-8, potent bone resorptive agents) and stimulating bone resorption. After the breast-cancer cells have left the primary tumor, they interact with the bone microenvironment and secrete osteolytic factors capable of osteoclast formation and bone resorption. Apart from the breast tumor cells, the resident stromal cells also contribute to tumor survival. Growth factors such as epidermal growth factor (EGF), fibroblast growth factor (FGF) and transforming growth factor beta (TGF-β) are implicated in the development and progression of metastatic breast cancer. Matrix metalloproteinases (MMPs) MMP-2 is the main metalloprotease secreted by breast-cancer cells or induced in the adjacent bone stroma; it plays an important role in the degradation of the extracellular matrix essential for metastasis. Tumor cells use MMP-2 secreted by bone marrow fibroblasts (BMFs). MMP-2 is stored in an inactive conformation in association with the cell surface (or extracellular matrix) of BMFs.[14] Inactive MMP-2 present on the surface of BMFs is displaced by breast-cancer cells. Cancer cells can then use the proteinase to facilitate tissue invasion, which requires the degradation of connective tissue associated with vascular basement membranes and interstitial connective tissue. MMP-2 is unlike other MMP's as its activity is modulated by metalloproteases called tissue inhibitor of metalloproteases (TIMP) and membrane type 1 MMP (Korhmann et at. 2009) ### Mechanism in brain metastasis[edit] The brain is a unique organ for metastasis, since the breast-tumor cells have to pass the blood–brain barrier (BBB) to form micrometastases. #### CD44[edit] CD44 (a cell-surface transmembrane glycoprotein) is a receptor for hyaluronic acid, involved in cell adhesion by binding to specific extracellular matrix components. A proposed mechanism for the function of CD44 is to regulate the adhesion of circulating cancer cells in the brain to the endothelium at the secondary site with the help of a hyaluronate matrix ligand or by its cytoplasmic attachments to actin-associated proteins of the merlin/ezrin/radixin/moesin family.[15] #### Sialyl transferase (glycosylation modifications of gangliosides)[edit] Cell-surface sialylation has been implicated in cell–to-cell interactions, and over-expression of a brain sialyltransferase in breast-cancer cells is a mechanism highlighting the role of cell-surface glycosylation in organ-specific metastatic interactions. Breast-cancer metastasis to the brain involves mediators of extravasation through non-fenestrated capillaries, complemented by specific enhancers of BBB-crossing and brain colonization.[16] ### Seed and soil hypothesis[edit] The "seed and soil" hypothesis states that specific organs harbor metastases from one type of cancer by stimulating their growth better than other types of cancer. This interaction is dynamic and reciprocal, since cancer cells modify the environment they encounter. Tumor embolus = seed and Target organ = soil. ## Workup[edit] In the detection of bone metastases, skeletal scintigraphy (bone scan) is very sensitive and is recommended as the first imaging study in asymptomatic individuals with suspected breast-cancer metastases.[17] X-ray radiography is recommended if there is abnormal radionuclide uptake from the bone scan and in assessing the risk of pathological fractures, and is recommended as the initial imaging study in patients with bone pain.[17] MRI or the combination PET-CT may be considered for cases of abnormal radionuclide uptake on bone scan, when radiography does not give an acceptably clear result.[17] ## Treatment[edit] This section may be confusing or unclear to readers. Please help us clarify the section. There might be a discussion about this on the talk page. (September 2011) (Learn how and when to remove this template message) Metastasis is a complex and interconnected multi-step process. Each step in the process is a potential target for therapies to prevent or reduce metastasis. Those steps which have a good clinical window are the best targets for therapy. Each event in metastasis is highly regulated and requires a synergistic activation of different ECM proteins, growth factors and so on. Although the occasional patient with metastatic breast cancer benefits from surgical resection of an isolated metastasis and most patients receive radiotherapy (often for palliation alone) during the course of their disease, the treatment of metastatic breast carcinoma typically involves the use of systemic therapy. There is no sufficient evidence on the benefits and risks of breast surgery associated with systemic treatment for women diagnosed with metastatic breast cancer.[18] ### Chemotherapy[edit] Chemotherapy is one of the most important components of therapy for metastatic breast cancer. Therapy of choice is based on three variables; 1. the extent, pattern and aggressiveness at first presentation. 2. what stage of menopause the patient is at. 3. What receptor hormone the tumour has . Observation of metastases provides direct feedback on the effectiveness of the treatment and often a number of chemotherapy agents are tried sequentially to determine one that works. Adding one or more chemotherapy drugs to an established regimen in women with metastatic breast cancer gives greater tumour shrinkage on imaging but also increased toxicity.[19] Combination chemotherapy is often used in patients with metastatic breast cancer. Research suggests no difference in overall survival time between sequential single agent chemotherapy and combination chemotherapy.[20] Sequential single agent chemotherapy may have a more positive effect on progression-free survival.[20] Taxanes are very active in metastatic breast cancer, and abraxane is approved for patients with metastatic breast cancer who either relapsed within six months of adjuvant chemotherapy or failed to respond to combination chemotherapy. This has a higher response rate than solvent-based paclitaxel (15% vs 8%). Abraxane can also deliver a 49% higher dose of medication than solvent-based paclitaxel; however, the side effects are severe and include chemotherapy-induced peripheral neuropathy. In women with metastatic breast cancer, taxane-containing chemotherapy regimens appear to improve survival and tumour shrinkage and decrease time to progression.[21] Taxanes are associated with increased risk of neuro-toxicity and less nausea and vomiting when contrasted to non-taxane containing regimens.[21] Vinorelbine is also active in metastatic breast cancer. Eribulin was approved in the US in Nov 2010. A targeted therapy drug, Kadcyla, was approved in February 2013. This antibody-drug conjugate targets only cancerous cells. It works by only releasing its toxic payload when triggered by a protein found in the cancerous cells in HER2+ breast cancer. It has extremely low side effects using this target therapy method.[22] Platinum-containing chemotherapy regimens are known to be effective for treating a variety of different cancer types.[23] In women with metastatic breast cancer who do not have triple negative disease, there is little or no survival benefit and excess toxicity from platinum-based regimens.[23] However, in women with metastatic triple negative breast cancer, there may be a moderate survival benefit from platinum-based regimens.[23] Antitumour antibiotics are also used in metastatic breast cancer. Antitumour antibiotics work to prevent cancer cells multiplying by damaging them. A meta-analysis has demonstrated that women taking antitumour antibiotics as part of their regimen had an advantage in time to progression and tumour shrinkage, but also increased side effect such as cardiotoxicity, leukopenia and nausea.[24] This section needs expansion. You can help by adding to it. (September 2011) ### Tamoxifen and other anti-estrogens[edit] This section needs expansion. You can help by adding to it. (January 2010) For estrogen-receptor-positive metastatic breast carcinoma the first line of therapy is often tamoxifen or another anti-estrogen drug unless there are liver metastases, significant lung involvement, rapidly progressive disease or severe symptoms requiring immediate palliation. ### Radiotherapy[edit] Radiotherapy is used in the treatment of metastatic breast cancer. The most common reasons for a patient with metastatic breast carcinoma to be treated with radiotherapy are: * Spinal cord compression. Spinal-cord compression is an oncological emergency, as untreated spinal cord compression may cause permanent paralysis or death. In breast cancer, spinal-cord compression occurs when a bone metastasis or spinal metastasis begins to push on the spinal cord this results in inflammation and, if untreated, spinal cord injury. Radiotherapy is an important component of therapy for cord compression secondary to metastatic breast cancer, along with corticosteroids and laminectomy. * Liver metastases. Typically, pain from liver metastases responds to chemotherapy and analgesia. However, in cases when chemotherapy is contraindicated or the liver metastases are refractory to chemotherapy (and pain medication fails to provide appropriate palliation of liver metastasis-related pain, radiotherapy should be considered; it may relieve pain and shrink the metastases, and perhaps extend survival in a subset of patients with a good response to radiotherapy. * Brain metastases. Brain metastases occur in up to 10–15% of breast-cancer patients, and often (but not always) occur late in the disease. They require urgent treatment; brain metastases may progress rapidly, and can suddenly produce life-threatening complications such as increased intracranial pressure, herniation of the brain, and seizures. Radiotherapy is essential in the treatment of brain metastases from breast cancer, as it halts tumor progression quickly and can induce a response in the majority of patients. * Bone metastases. The bones are a very common site of metastatic disease from breast cancer, and bone metastases can cause severe pain, hypercalcemia and pathologic fracture. Radiotherapy is indicated to prevent pathologic fracture; it is also part of postoperative treatment following repair of a pathologic fracture. Strontium 89, a radiopharmaceutical which is injected into the bloodstream, is under investigation for the treatment of bone metastases from breast cancer; there is evidence that it can relieve pain for up to three months after its administration. It is unknown whether or not it can prevent pathologic fracture, but it should be considered in patients who have three or more sites of painful bone metastases who cannot be treated with external-beam radiotherapy. In some patients with estrogen-receptor-positive breast carcinoma metastatic to the bone only, external-beam radiotherapy followed by tamoxifen or another anti-estrogen may be sufficient to control disease, at least temporarily. In most cases, however, the combination of radiotherapy and hormonal therapy is not enough to maintain disease control, and chemotherapy is needed.[25][better source needed] ### Alternative therapies[edit] Some patients with metastatic breast cancer opt to try alternative therapies such as vitamin therapy, homeopathic treatments, a ketogenic or macrobiotic diet, chiropractic or acupuncture. There is no evidence that any of these therapies are effective; they may be harmful, either because patients pass up effective conventional therapies such as chemotherapy or anti-estrogen therapy in favor of alternative treatments, or because the treatments themselves are harmful (as in the case of apricot-pit therapy—which exposes the patient to cyanide—or in chiropractic, which can be dangerous to patients with cancer metastatic to the spinal bones or spinal cord. A macrobiotic diet is neither effective nor safe as it could hypothetically induce weight loss due to severe dietary restriction. There is limited evidence that acupuncture might relive pain in cancer patients, but data so far is insufficient to recommend its use outside of clinical trials. There is free peer support and an online platform[26] to interact with others going through various therapies, including Abraxane. ### Experimental therapies[edit] Treatment of metastatic breast cancer is currently an active area of research. Several medications are in development or in phase I/II trials. Typically new medications and treatments are first tested in metastatic cancer before trials in primary cancer are attempted. Another area of research is finding combination treatments which provide higher efficacy with reduced toxicity and side effects. Experimental medications: * sorafenib a combined Tyrosine protein kinases inhibitor. This section needs expansion. You can help by adding to it. (June 2016) ### Scheduling of drug treatments and impact on results[edit] Scheduling of drug treatments and combination treatment can have substantial impact on treatment efficacy.[27] ## Nanotherapies using nanoprobes[edit] Nanomedicine is being studied, and there are several developments involving the targeting of cancer cells using nanoprobes. Some instances where nanoprobes are used to target specific tumor cells (based on the organ to which they have metastasized) are: * Chlorotoxin (a chemical derived from the deathstalker scorpion) binds to MMP-2 to cause endocytosis of the metalloprotease, thus reducing its activity. Chemically bonded iron-oxide nanoparticles were coated with about 20 molecules of chlorotoxin and targeted to brain-metastatic cancer cells. It was found that nanoprobes reduced brain-metastatic tumors in mice by 98%.[medical citation needed] * Nanotherapy using antibodies to herceptin (coated on gold nanoparticles) has slowed down the growth and invasion of aggressive breast tumors in mice. Such therapies, targeted to specific cell types, is hoped to be useful in the future to develop better treatments to prevent or treat metastasis in breast cancer.[medical citation needed] ## Central nervous system metastases[edit] See also: Brain metastasis This section needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (December 2015) (Learn how and when to remove this template message) Clinically symptomatic CNS metastases are reported in 10–15% of patients with metastatic breast cancer; in large autopsy studies, up to 40% of women who died of metastatic breast cancer were reported to have at least one brain metastasis. CNS metastases are often viewed by patients and doctors as a late complication of metastatic breast cancer for which few effective treatments exist. In most cases, CNS involvement occurs after metastatic dissemination to the bones, liver and/or lungs has already occurred; for that reason, many patients already have refractory, terminal breast cancer by the time they are diagnosed with brain metastases. The diagnosis of brain metastases from breast cancer relies mainly on patient-reported symptoms and neuroimaging. The role of imaging in patients with suspected brain metastases is a very good modality to aid in diagnosis. According to Weil et al., 2005, neuroimaging such as Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) prove to be very effective in the diagnosis of brain and central nervous system metastases. Symptoms of brain metastases from breast cancer are: * new-onset headache * changes in mental status, cognition and behavior * ataxia * cranial neuropathy, which may cause diplopia and Bell's palsy * vomiting and nausea * deficits in sensation, motor function, and speech Of all brain-metastatic patients, those with a controlled extra-cranial tumor, age less than 65 years and a favorable general performance (Karnofsky performance status ≥70) fare best; older patients with a Karnofsky performance status below 70 do poorly. Effective treatments for brain metastases from breast cancer exist, although symptomatic therapy alone may be chosen for those with poor performance status. Corticosteroids are crucial to the treatment of brain metastases from any source (including the breast), and are effective in reducing peri-tumoral edema and providing symptomatic relief. Chemotherapy has not been found to be effective in the treatment of brain metastases from breast cancer, due to the inability of most chemotherapeutic agents to penetrate the blood–brain barrier. Whole-brain radiation may provide a median survival of 4 to 5 months, which can be further extended by months with stereotactic surgery. Several non-randomized studies have suggested that stereotactic surgery may provide a nearly equivalent outcome, compared with surgery followed by whole brain-irradiation. Surgery tends to reduce symptoms quickly and prolong life, with an improved quality of life. Multiple metastases (up to three) may be removed surgically with a risk similar to that of a single lesion, providing similar benefits. Adjuvant radiotherapy follows surgical resection; this combined approach has been shown to prolong median survival up to 12 months, depending on the factors noted above. There is evidence that surgery may be useful in select patients with recurrent brain metastases. Mean survival from diagnosis of a brain metastasis varies between studies, ranging from 2 to 16 months (depending on involvement of the CNS, the extent of the extra-cranial metastatic disease, and the treatment applied). The mean 1-year survival is estimated at 20%. Improvements in the treatment of brain metastases are clearly needed.[28] ## See also[edit] * breast cancer * metastasis * neoplasm * chemotherapy * Mouse models of breast cancer metastasis * Phyllodes tumour ## References[edit] 1. ^ John’s Hopkins. "Metastatic Breast Cancer". Hopkins medicine. Retrieved 6 January 2021. 2. ^ a b "Secondary (metastatic) breast cancer". Breast Cancer Care. Retrieved 22 October 2013. 3. ^ Fouad TM, Kogawa T, Liu DD, Shen Y, Masuda H, El-Zein R, et al. (July 2015). "Overall survival differences between patients with inflammatory and noninflammatory breast cancer presenting with distant metastasis at diagnosis". Breast Cancer Research and Treatment. 152 (2): 407–16. doi:10.1007/s10549-015-3436-x. PMC 4492876. PMID 26017070. 4. ^ Lee YT (July 1983). "Breast carcinoma: pattern of metastasis at autopsy". Journal of Surgical Oncology. 23 (3): 175–80. doi:10.1002/jso.2930230311. PMID 6345937. 5. ^ "Metastatic cancer overview". Canadian Cancer Society. Retrieved 8 September 2014. 6. ^ Suva LJ, Griffin RJ, Makhoul I (September 2009). "Mechanisms of bone metastases of breast cancer". Endocrine-Related Cancer. Bioscientifica. 16 (3): 703–13. doi:10.1677/ERC-09-0012. PMC 2914697. PMID 19443538. Retrieved 15 January 2010. 7. ^ "Metastatic Cancer". National Cancer Institute. 2015-05-12. Retrieved 2019-05-06. 8. ^ "Breast Cancer - Metastatic - Symptoms and Signs". Cancer.Net. 2017-05-19. Retrieved 2019-10-28. 9. ^ Macedo F, Ladeira K, Pinho F, Saraiva N, Bonito N, Pinto L, Goncalves F (March 2017). "Bone Metastases: An Overview". Oncology Reviews. 11 (1): 321. doi:10.4081/oncol.2017.321. PMC 5444408. PMID 28584570. 10. ^ Berghoff AS, Preusser M (2018). "New developments in brain metastases". Therapeutic Advances in Neurological Disorders. 11: 1756286418785502. doi:10.1177/1756286418785502. PMC 6048670. PMID 30034538. 11. ^ Shaffrey ME, Mut M, Asher AL, Burri SH, Chahlavi A, Chang SM, Farace E, Fiveash JB, Lang FF, Lopes MB, Markert JM, Schiff D, Siomin V, Tatter SB, Vogelbaum MA (August 2004). "Brain metastases". Current Problems in Surgery. 41 (8): 665–741. doi:10.1067/j.cpsurg.2004.06.001. PMID 15354117. 12. ^ Vlodavsky I, Goldshmidt O, Zcharia E, Atzmon R, Rangini-Guatta Z, Elkin M, Peretz T, Friedmann Y (April 2002). "Mammalian heparanase: involvement in cancer metastasis, angiogenesis and normal development". Seminars in Cancer Biology. 12 (2): 121–9. doi:10.1006/scbi.2001.0420. PMID 12027584. 13. ^ MetaBre Archived January 6, 2008, at the Wayback Machine 14. ^ Saad S, Gottlieb DJ, Bradstock KF, Overall CM, Bendall LJ (January 2002). "Cancer cell-associated fibronectin induces release of matrix metalloproteinase-2 from normal fibroblasts". Cancer Research. American Association for Cancer Research. 62 (1): 283–9. PMID 11782389. Retrieved January 15, 2010. 15. ^ Nathoo N, Chahlavi A, Barnett GH, Toms SA (March 2005). "Pathobiology of brain metastases". Journal of Clinical Pathology. 58 (3): 237–42. doi:10.1136/jcp.2003.013623. PMC 1770599. PMID 15735152. 16. ^ Bos PD, Zhang XH, Nadal C, Shu W, Gomis RR, Nguyen DX, Minn AJ, van de Vijver MJ, Gerald WL, Foekens JA, Massagué J (June 2009). "Genes that mediate breast cancer metastasis to the brain". Nature. 459 (7249): 1005–9. Bibcode:2009Natur.459.1005B. doi:10.1038/nature08021. PMC 2698953. PMID 19421193. 17. ^ a b c Costelloe CM, Rohren EM, Madewell JE, Hamaoka T, Theriault RL, Yu TK, Lewis VO, Ma J, Stafford RJ, Tari AM, Hortobagyi GN, Ueno NT (June 2009). "Imaging bone metastases in breast cancer: techniques and recommendations for diagnosis". The Lancet. Oncology. 10 (6): 606–14. doi:10.1016/S1470-2045(09)70088-9. PMID 19482249. 18. ^ Tosello G, Torloni MR, Mota BS, Neeman T, Riera R (March 2018). "Breast surgery for metastatic breast cancer". The Cochrane Database of Systematic Reviews. 3 (3): CD011276. doi:10.1002/14651858.CD011276.pub2. PMC 6494198. PMID 29542106. 19. ^ Butters DJ, Ghersi D, Wilcken N, Kirk SJ, Mallon PT (November 2010). "Addition of drug/s to a chemotherapy regimen for metastatic breast cancer". The Cochrane Database of Systematic Reviews (11): CD003368. doi:10.1002/14651858.cd003368.pub3. PMC 7154379. PMID 21069675. 20. ^ a b Dear RF, McGeechan K, Jenkins MC, Barratt A, Tattersall MH, Wilcken N (December 2013). "Combination versus sequential single agent chemotherapy for metastatic breast cancer". The Cochrane Database of Systematic Reviews (12): CD008792. doi:10.1002/14651858.cd008792.pub2. PMID 24347031. 21. ^ a b Ghersi D, Willson ML, Chan MM, Simes J, Donoghue E, Wilcken N (June 2015). "Taxane-containing regimens for metastatic breast cancer". The Cochrane Database of Systematic Reviews (6): CD003366. doi:10.1002/14651858.cd003366.pub3. PMC 6464903. PMID 26058962. 22. ^ Cancer, Cleveland Clinic. "Kadcyla - Chemotherapy Drug Information - Chemocare.com". Chemocare.com. Retrieved 21 March 2017. 23. ^ a b c Egger SJ, Willson ML, Morgan J, Walker HS, Carrick S, Ghersi D, Wilcken N (June 2017). "Platinum-containing regimens for metastatic breast cancer". The Cochrane Database of Systematic Reviews. 6: CD003374. doi:10.1002/14651858.cd003374.pub4. PMC 6481538. PMID 28643430. 24. ^ Lord S, Ghersi D, Gattellari M, Wortley S, Wilcken N, Simes J (October 2004). "Antitumour antibiotic containing regimens for metastatic breast cancer". The Cochrane Database of Systematic Reviews (4): CD003367. doi:10.1002/14651858.cd003367.pub2. PMC 6999796. PMID 15495049. 25. ^ http url www.emedicine.net 26. ^ free peer support and an online platform 27. ^ "News: Loyola University Chicago Health Sciences Division". 28. ^ Weil RJ, Palmieri DC, Bronder JL, Stark AM, Steeg PS (October 2005). "Breast cancer metastasis to the central nervous system". The American Journal of Pathology. 167 (4): 913–20. doi:10.1016/S0002-9440(10)61180-7. PMC 1603675. PMID 16192626. [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 inhibitors [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-aminobutyric 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	Metastatic breast cancer	c0278488	27,652	wikipedia	https://en.wikipedia.org/wiki/Metastatic_breast_cancer	2021-01-18T18:59:45	{"wikidata": ["Q12859063"]}
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Facial infiltrating lipomatosis" – news · newspapers · books · scholar · JSTOR (January 2020) Facial infiltrating lipomatosis Other namesCongenital infiltrating lipomatosis of the face Causesgenetic mutation of the PIK3CA gene Facial infiltrating lipomatosis (FIL), also referred to as congenital infiltrating lipomatosis of the face or facial infused lipomatosis, is an ultra-rare craniofacial overgrowth condition caused by a genetic mutation of the PIK3CA gene.[1] The condition is a part of the PIK3CA related overgrowth spectrum (PROS).[2] The disease is congenital and non-hereditary. First described by Slavin and colleagues in 1983.[3] For this disease the mutation causes overgrowth of half of the face (hemifacial). It affects both soft and hard tissue (facial skeleton). The condition is noticeable at birth by the asymmetrical cheeks, with one cheek being prominently larger than the other.[4] ## Contents * 1 Signs & symptoms * 2 Cause * 3 Diagnosis * 4 Treatment * 5 References ## Signs & symptoms[edit] Congenital hemifacial enlargement in which mature lipocytes invade adjacent tissue. Phenotypic features include soft-tissue and skeletal hypertrophy and regional macrodontia. The manifestation are variable ranging from mild to severe. The overgrowth is typically present at birth. The most common features, all features on only one affected side of the face, are:[5][4] * Increased adipose tissue compared to the other side. The fat is infiltrating with no clear separation from the adjacent tissue. * Hypertrophy of the skeleton including teeth. * Early eruption of ipsilateral deciduous and permanent teeth * The parotid and submandibular gland including accessory tissue is larger. * Epidermal nevus / nevus sebaceous on the affected side. * Increased adipose tissue behind the orbital and pterygopalatine fossa. * Amblyopia of the eye. * Overgrowth of the ear. * Mucosal neuromas * Cutaneous capillary blush * Ipsilateral macroglossia * Syndromic hemimegalencaphaly Not all patients with facial infiltrating lipomatosis have all these symptoms. ## Cause[edit] Mutations in the PIK3CA gene have been identified as the cause for facial infiltrating lipomatosis.[6][4] The mutation is de novo and mosaic meaning it's new, not inherited and not occurring in every cell. One of the DNA nucleotides was altered, causing a change in the amino acid put being into the protein, referred to as a missense mutation, and for PROS, this gives an overactivity, "gain-of-function". The gene is a part of PI3K-AKT/mTOR pathway, a pathway crucial to cell growth, survival, angiogenesis and proliferation.[citation needed] Illustration of the PIK3CA Related Overgrowth Spectrum ## Diagnosis[edit] [citation needed] ## Treatment[edit] There is no cure for FIL/PROS. Management usually consists of multiple debulking surgeries and/or drug treatment. Due to the infiltrating fat in important facial structures complete excision of the overgrowth is often impossible and there is a high risk of regrowth after resection.[4] The current drug treatment options are either a mTOR inhibitor, a pan AKT (AKT1-2-3) inhibitor or a PIK3CA inhibitor. The mTOR inhibitor is an off-label use, the use of the AKT-inhibitor is currently in a clinical trial[7] (MOSAIC) and the PIK3CA inhibitor is only available through compassionate use program[8] (if one is eligible). ## References[edit] 1. ^ Maclellan, Reid A.; Luks, Valerie L.; Vivero, Matthew P.; Mulliken, John B.; Zurakowski, David; Padwa, Bonnie L.; Warman, Matthew L.; Greene, Arin K.; Kurek, Kyle C. (January 2014). "PIK3CA Activating Mutations in Facial Infiltrating Lipomatosis". Plastic and Reconstructive Surgery. 133 (1): 12e–19e. doi:10.1097/01.prs.0000436822.26709.7c. PMID 24374682. S2CID 23828181. 2. ^ Keppler-Noreuil, Kim M.; Rios, Jonathan J.; Parker, Victoria E.R.; Semple, Robert K.; Lindhurst, Marjorie J.; Sapp, Julie C.; Alomari, Ahmad; Ezaki, Marybeth; Dobyns, William; Biesecker, Leslie G. (February 2015). "PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation". American Journal of Medical Genetics Part A. 167 (2): 287–295. doi:10.1002/ajmg.a.36836. PMC 4480633. PMID 25557259. 3. ^ Slavin, Sumner A.; Baker, Daniel C.; McCarthy, Joseph G.; Mufarrij, Amjad (August 1983). "Congenital Infiltrating Lipomatosis of the Face". Plastic and Reconstructive Surgery. 72 (2): 158–164. doi:10.1097/00006534-198308000-00006. PMID 6192455. S2CID 28264156. 4. ^ a b c d Li, Yatong; Chang, Guojing; Si, Loubin; Zhang, Hailin; Chang, Xiaoyan; Chen, Zhixiong; Huang, Jiuzuo; Bai, Ming; Wang, Yang; Long, Xiao; Zhao, Ru; Wang, Xiaojun (2018). "Congenital Infiltrating Lipomatosis of the Face". Annals of Plastic Surgery. 80 (1): 83–89. doi:10.1097/SAP.0000000000001213. PMC 5737463. PMID 28846548. 5. ^ Shenoy, Archana R.; Nair, Keerthi K.; Lingappa, Ashok; Shetty, K. Sadashiva (1 April 2015). "Congenital infiltrating lipomatosis of face: Case report and review of literature". Journal of Indian Society of Pedodontics and Preventive Dentistry. 33 (2): 156–60. doi:10.4103/0970-4388.155134. PMID 25872637. 6. ^ Couto, Javier A.; Vivero, Matthew P.; Upton, Joseph; Padwa, Bonnie L.; Warman, Matthew L.; Mulliken, John B.; Greene, Arin K. (October 2015). "Facial Infiltrating Lipomatosis Contains Somatic PIK3CA Mutations in Multiple Tissues". Plastic and Reconstructive Surgery. 136: 72–73. doi:10.1097/01.prs.0000472371.96995.e5. 7. ^ Clinical trial number NCT03094832 for "Study of ARQ 092 in Subjects With PIK3CA-related Overgrowth Spectrum and Proteus Syndrome (MOSAIC)" at ClinicalTrials.gov 8. ^ Clinical trial number NCT04085653 for "Managed Access Program (MAP) to Provide Alpelisib (BYL719) for Patients With PIK3CA-Related Overgrowth Spectrum (PROS)" at ClinicalTrials.gov [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 inhibitors [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-aminobutyric 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	Facial infiltrating lipomatosis	None	27,653	wikipedia	https://en.wikipedia.org/wiki/Facial_infiltrating_lipomatosis	2021-01-18T18:41:16	{"wikidata": ["Q85760297"]}
A number sign (#) is used with this entry because of evidence that cardiomyopathy of the dilated (CMD1AA) or hypertrophic (CMH23) type, with or without left ventricular noncompaction (LVNC), can be caused by heterozygous mutation in the gene encoding alpha-actinin-2 (ACTN2; 102573) on chromosome 1q43. For a general phenotypic description and a discussion of genetic heterogeneity of dilated cardiomyopathy, see CMD1A (115200). For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (192600). Clinical Features Mohapatra et al. (2003) reported a 7-year-old girl who died of dilated cardiomyopathy only a few weeks after the onset of symptoms. At autopsy, marked dilation of both ventricles, myocyte hypertrophy, and interstitial fibrosis were noted; there were no viral genomic sequences on PCR analysis of cardiac tissue or histologic evidence of myocarditis. Her father had died of acute-onset idiopathic CMD at 42 years of age. Theis et al. (2006) reported 3 sporadic patients with hypertrophic cardiomyopathy who were diagnosed in the second to fourth decades of life and who had maximum left ventricular wall thicknesses ranging from 16 to 20 mm; all 3 had a sigmoid septal shape and underwent myectomy. Pathology reports available from 2 of the patients noted marked myocyte hypertrophy, focal myocyte disarray, and endocardial and interstitial fibrosis. There was no family history of CMH or sudden cardiac death. Chiu et al. (2010) studied a large 3-generation Australian family with clinically heterogeneous CMH. The proband was diagnosed after experiencing cardiac arrest during pregnancy, at which time she was found to have mild apical hypertrophy and an abnormal electrocardiogram (ECG) indicating left ventricular hypertrophy (LVH). She underwent placement of an implantable cardioverter-defibrillator (ICD) and subsequently progressed to severe heart failure. Screening of family members revealed that her father, who was being treated for atrial fibrillation, also had biventricular concentric hypertrophy. A brother had moderate asymmetric septal LVH and nonsustained ventricular arrhythmias, and received an ICD. A sister, who had apical hypertrophy with evidence of apical trabeculations as well as mild right ventricular hypertrophy, also received an ICD, which delivered shocks in response to ventricular tachycardia twice in the following 3 years. Another brother died suddenly at age 36 years; autopsy revealed asymmetric septal hypertrophy and histopathologic features consistent with CMH, including myocyte hypertrophy, myofiber disarray, and interstitial fibrosis. An echocardiogram the previous year had shown an asymmetric septal wall with a thickness of 16 mm. Their paternal uncle had mild LVH with borderline LVH changes on ECG as well as evidence of left ventricular wall thinning at age 74 years. His daughter had previously been diagnosed with arrhythmogenic cardiomyopathy and received an ICD. Bagnall et al. (2014) studied 4 affected members over 2 generations of an Australian family with marked cardiac phenotype heterogeneity, including CMD, LVNC, ventricular fibrillation, and sudden unexplained death. The 35-year-old female proband presented at age 22 with syncope and a family history of sudden death. ECG was unremarkable, but echocardiogram and MRI showed prominent left ventricular apical trabeculations, consistent with LVNC. Electrophysiologic study did not uncover any inducible arrhythmias, and QTc was measured at 440 ms. An ICD was implanted, which had not discharged during follow-up. Her sister had died suddenly during sleep at 25 years of age, and autopsy failed to identify a cause of death. Their deceased father had a history of dyspnea, left bundle branch block, maximum left ventricular wall and posterior wall thickness of 12 mm, and left ventricular dilation with a reduced ejection fraction of 27%. A 33-year-old female cousin experienced cardiac arrest; postresuscitation MRI showed no evidence of myocardial fibrosis or cardiomyopathy. She underwent placement of an ICD for ventricular fibrillation, and the device subsequently delivered 2 appropriate shocks. Girolami et al. (2014) reported a large 4-generation Italian family with atypical CMH and early-onset atrial fibrillation (AF). Of 18 family members who were clinically assessed, 11 had evidence of cardiomyopathic involvement, comprising variable combinations of 3 distinctive features: asymmetric LVH consistent with CMH, early-onset supraventricular arrhythmias and atrioventricular (AV) block, and regional LVNC. The proband was an 82-year-old man with mild, asymmetric LVH localized to the base and midseptum, marked biatrial dilatation, and a restrictive LV filling pattern with preserved systolic function. He had been diagnosed with nonobstructive hypertrophic cardiomyopathy (HCM) almost 3 decades earlier. He had onset of paroxysmal AF at age 30 that evolved into permanent AF with advanced AV block, requiring VVI pacing at the age of 68. Despite early onset of disease manifestations and adverse cardiac remodeling, consistent with restrictive evolution of HCM, he remained fully active with only mild functional limitation (functional class New York Heart Association class II); no significant ventricular arrhythmias were noted on repeated 24-hour ECG Holter monitoring. Prior screening was negative for mutation in the 8 most prevalent CMH-associated sarcomere genes. His brother and 2 nephews exhibited similar echocardiographic and clinical features, characterized by nonobstructive HCM with restrictive evolution, AV block, and biatrial dilation. A 4-year-old great-nephew presented at birth with esophageal atresia and tracheal fistula, ostium secundum atrial septal defect (ASD), and supraventricular tachycardia. Although there was no evidence of LVH or noncompaction, ventricular septal biopsy taken during surgery to repair the ASD revealed cardiomyocyte hypertrophy and 'typical features' of CMH. Seven other affected family members showed milder forms of cardiac disease, including mild apical LVH, regional LVNC, left atrial dilation with frequent premature atrial contractions or AF, and first-degree AV block. Mapping In affected members of a large 3-generation Australian family with clinically heterogeneous CMH who were negative for mutation in 10 known CMH-associated genes, Chiu et al. (2010) performed genomewide linkage analysis and obtained a maximum lod score of 2.82 on chromosome 1 at marker D2S2850 (theta = 0). Recombination events defined a 5.7-Mb critical region flanked by markers D1S2800 and D1S2670. Molecular Genetics In a 7-year-old girl who died of dilated cardiomyopathy and was negative for mutation in 8 known cardiomyopathy genes, Mohapatra et al. (2003) identified heterozygosity for a missense mutation at a conserved residue in the ACTN2 gene (102573.0001). The mutation was not found in the mother or in 200 controls; DNA was unavailable from the deceased father. In a cohort of 239 patients with hypertrophic cardiomyopathy who were negative for mutation in the 8 most common CMH-associated myofilament genes, Theis et al. (2006) analyzed 5 candidate Z-disc genes and identified 14 mutations in 13 patients, including 3 different heterozygous missense mutations in the ACTN2 gene in 3 sporadic patients (102573.0002-102573.0004). The authors observed that 11 (85%) of the 13 patients with Z-disc-associated CMH had a sigmoidal septal contour, in contrast to the reverse septal curvature seen with myofilament-associated CMH. In affected members of a large 3-generation Australian family with clinically heterogeneous CMH mapping to chromosome 1, Chiu et al. (2010) identified heterozygosity for a missense mutation in the ACTN2 gene (A119T; 102573.0005) that was not present in unaffected family members or in 260 controls. Screening of an additional 297 CMH probands identified 3 heterozygous missense mutations that segregated with disease in the respective families (see, e.g., 102573.0003 and 102573.0006). Chiu et al. (2010) noted that in contrast to previously reported patients with ACTN2 mutations (Theis et al., 2006), none of these patients displayed sigmoidal morphology; rather, they exhibited a generally mild hypertrophy with a diverse distribution, involving the septum in some individuals, whereas others showed apical, concentric, or right ventricular hypertrophy, with progression to a dilated phenotype and severe heart failure in some cases. In 4 affected members over 2 generations of an Australian family with marked cardiac phenotype heterogeneity, including CMD, LVNC, ventricular fibrillation, and sudden death, Bagnall et al. (2014) identified heterozygosity for the same A119T substitution in the ACTN2 gene that had previously been detected in an apparently unrelated Australian family with clinically heterogeneous CMH by Chiu et al. (2010). Haplotype analysis was consistent with a common ancestor for the 2 Australian families. Genotyping of 31 additional patients with LVNC revealed no mutations. In a large 4-generation Italian family with clinically heterogeneous cardiomyopathic disease comprising variable combinations of asymmetric LVH consistent with CMH, early-onset supraventricular arrhythmias and AV block, and regional LVNC, Girolami et al. (2014) performed next-generation sequencing and identified heterozygosity for a missense mutation in ACTN2 (M228T; 102573.0007). The mutation, which segregated fully with disease in the family, was not found in 570 control alleles. The authors noted that although the features in this Italian family were similar to those of the ACTN2-related CMH that was described in an Australian family by Chiu et al. (2010), the Italian family had a relatively favorable long-term clinical course, whereas the Australian family had a high prevalence of progressive heart failure and sudden cardiac death. INHERITANCE \- Autosomal dominant CARDIOVASCULAR Heart \- Atrial fibrillation (in some patients) \- Supraventricular tachycardia (in some patients) \- Nonsustained ventricular arrhythmias (in some patients) \- Atrioventricular block (in some patients) \- Cardiac arrest (in some patients) \- Sudden unexplained death (in some patients) \- Atrial septal defect, ostium secundum (in some patients) \- Marked biventricular dilation (in some patients) \- Markedly decreased left ventricular function \- Left ventricular hypertrophy (in some patients) \- Sigmoidal septal shape (in some patients) \- Concentric biventricular hypertrophy (in some patients) \- Left ventricular noncompaction (in some patients) \- Cardiomyocyte hypertrophy \- Cardiomyocyte disarray \- Interstitial fibrosis of myocardium \- Endocardial fibrosis MISCELLANEOUS \- Variable phenotype \- Some patients with hypertrophic cardiomyopathy progress to a dilated phenotype with severe heart failure MOLECULAR BASIS \- Caused by mutation in the alpha-2 actinin gene (ACTN2, 102573.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION	c0340427	27,654	omim	https://www.omim.org/entry/612158	2019-09-22T16:02:17	{"doid": ["0110428"], "mesh": ["C536231"], "omim": ["612158"], "orphanet": ["154"], "genereviews": ["NBK1309"]}
A complex hereditary spastic paraplegia characterized by progressive lower limbs weakness and spasticity, upper limbs weakness, dysarthria, hypomimia, sphincter disturbances, peripheral neuropathy, learning difficulties, cognitive impairment and dementia. Magnetic resonance imaging shows thin corpus callosum, cerebral atrophy, and periventricular white matter changes. [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 inhibitors [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-aminobutyric 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	Autosomal recessive spastic paraplegia type 11	c1858479	27,655	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2822	2021-01-23T18:30:01	{"gard": ["4919"], "mesh": ["C538335", "C537483"], "omim": ["604360"], "umls": ["C1858479", "C2931821"], "icd-10": ["G11.4"], "synonyms": ["Nakamura-Osame syndrome", "SPG11", "Spastic paraplegia-intellectual disability-thin corpus callosum syndrome"]}
Anemia is a condition in which your blood has a lower-than-normal amount of red blood cells or hemoglobin.[1] Anemia in pregnancy is a decrease in the total red blood cells (RBCs) or hemoglobin in the blood during pregnancy or in the period following pregnancy. It involves a reduction in the oxygen carrying capacity of the blood. Anemia is an extremely common condition in pregnancy and postpartum world-wide, conferring a number of health risks to mother and child.[2] Maternal signs and symptoms are usually non-specific, but can include: fatigue, pallor, dyspnea, palpitations, and dizziness.[3] There are numerous well-known maternal consequences of anemia including: maternal cardiovascular strain, reduced physical and mental performance, reduced peripartum blood reserves, increased risk for peripartum blood product transfusion, and increased risk for maternal mortality.[4] ## Contents * 1 Signs and symptoms * 2 Causes * 2.1 Postpartum bleeding * 3 Diagnosis * 3.1 Pregnancy * 4 Prevention * 5 Treatment * 5.1 Transfusion * 6 Epidemiology * 7 Guidelines * 8 References ## Signs and symptoms[edit] Symptoms may be mild such as fatigue and pallor or more severe, such as fainting or difficulty breathing.[5] Symptoms may also include dizziness, headache, cold hands and feet, pale skin, irregular heartbeat, and chest pain.[6] ## Causes[edit] In the simplest of terms, anemia results from impaired production of red blood cells, increased destruction of red blood cells or blood loss.[3] Anemia can be congenital (ie, conditions such as sickle cell anemia and thalassemia) or acquired (ie, conditions such as iron deficiency anemia or anemia as a result of an infection). The most frequent cause of anemia in pregnancy worldwide is iron deficiency anemia (IDA).[2][7] Iron is needed for many physiological processes in the body, and observational studies indicate that iron deficiency during pregnancy may independently result in cognitive or behavioral abnormalities in the child.[8] Babies of women with IDA have an increased risk of being low birthweight, being born prematurely, being more susceptible to infections, and suffering death in utero.[4][7] Aside from iron deficiency, other causes of anemia in the peripartum woman include nutritional deficits such as folate and vitamin B12 deficiencies. Congenital causes of anemia that may worsen during pregnancy include: hemoglobinopathies, such as sickle cell anemia and thalassemia, as well as conditions of red cell structural and enzymatic abnormalities such as hereditary spherocytosis and elliptocytosis. Bacterial, viral, fungal, and protozoal infections (such as malaria and hookworm) may also result in anemia. Hemolytic anemia, aplastic anemia and anemia due to hematologic or non-hematologic (ie, colonic adenocarcinoma) malignancy may rarely occur during pregnancy as well. Peri and postpartum hemorrhage may induce or worsen pre-existing anemia in the postpartum woman. Prevention and treatment, especially of iron deficiency anemia, is widely available, but not consistently performed. Severe anemia may require red blood cell transfusions especially if there is also significant blood loss at birth. * Maternal deficiency of iron is by far the most common cause of obstetric anemia and is a treatable condition * Maternal anemia is frequent despite guidelines and widely available treatment * Maternal anemia is thought to be the most frequent cause of maternal death worldwide * Anemia during pregnancy increases the risk of induction of labor and cesarean section * Anemia during pregnancy increases the risk of postpartum anemia * Iron deficiency during pregnancy is linked to a number of harmful effects on the fetus such as intrauterine growth restriction, death in utero, infection, preterm delivery and neurodevelopmental damage, which may be irreversible[8][9][10] * Failure to treat maternal iron deficiency may carry over to a woman's next pregnancy Iron deficiency is the most common cause of anemia in the pregnant woman. During pregnancy, the average total iron requirement is about 1200 mg per day for a 55 kg woman. This iron is used for the increase in red cell mass, placental needs and fetal growth.[4] About 40% of women start their pregnancy with low to absent iron stores and up to 90% have iron stores insufficient to meet the increased iron requirements during pregnancy and the postpartum period.[4] Deficiencies of folate and vitamin B12 can lead to anemia in the pregnant patient. Parasitic infestations with hookworm or Plasmodium species may also result in anemia. Other infectious causes include: bacterial, fungal and viral infections. Congenital anemias such as sickle cell anemia and thalassemia may worsen during pregnancy due to increased demands. Even less common causes include hemolytic anemia, aplastic anemia, and hematologic malignancies in the pregnant woman. The majority of women presenting with postpartum anemia have pre-delivery iron deficiency anemia or iron deficiency anemia combined with acute blood loss during delivery.[11] ### Postpartum bleeding[edit] Postpartum hemorrhage is typically defined as blood loss in excess of 500 mL following vaginal delivery and in excess of 1000 mL following cesarean delivery.[12] Primary PPH is that which occurs within 24 hours after delivery, while secondary PPH can occur up to 12 weeks following delivery. PPH is relatively common with an incidence of 5–15% of all births. However, life-threatening PPH, defined by the Royal College of Obstetricians and Gynaecologists (RCOG) as an estimated blood loss in excess of 2500 mL or receipt of > 5 units of blood products or treatment of coagulopathy, occurs in an estimated 3.7 per 1000 pregnancies.[12] ## Diagnosis[edit] The most useful test with which to render a diagnosis of anemia is a low RBC count,[5] however hemoglobin and hematocrit values are most commonly used in making the initial diagnosis of anemia. It is important to note that references ranges for these values are often not the same for pregnant women. Additionally, laboratory values for pregnancy often change throughout the duration of a woman’s gestation.[13] Testing involved in diagnosing anemia in the pregnant woman must be tailored to each individual patient. Suggested tests include: hemoglobin and hematocrit, mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), erythrocyte count, red cell distribution width (RDW), reticulocyte count, and a peripheral smear to assess red blood cell morphology. If iron deficiency is suspected, additional tests such as: serum iron, total iron-binding capacity (TIBC), transferrin saturation, and plasma or serum ferritin may be warranted. Hemoglobin < 10 g/dL in the postpartum woman is classified as anemia. ### Pregnancy[edit] Pregnant women need almost twice as much iron as women who are not pregnant do. Not getting enough iron during pregnancy raises risk of premature birth or a low-birth-weight baby.[14] Hormonal changes in the pregnant woman result in an increase in circulating blood volume to 100 mL/kg with a total blood volume of approximately 6000–7000 mL. While red cell mass increases by 15–20% during pregnancy, plasma volume increases by 40%.[15] Hemoglobin levels less than 11 g/dL during the first trimester, less than 10.5 g/dL during the second and third trimesters and less than 10 mg/dL in the postpartum period are considered anemic.[7] ## Prevention[edit] Anemia is common in pregnancy because a woman needs to have enough red blood cells to carry oxygen around her body and to her baby. Prevention can occur anemia before and during via blood tests during prenatal care visits, an iron-rich diet, and iron supplements.[6] Iron deficiency anemia can be prevented by taking 15–60 mg of iron orally daily.[16][14] Treating anemia during pregnancy[14] and managing obstetric hemorrhage reduces the incidence of iron deficiency anemia. Preventing anemia after pregnancy is also important.[6] Women should talk to their doctors about testing for anemia four to six weeks after childbirth.[14] ## Treatment[edit] For treatment of pregnant woman with iron deficiency anemia, doses of oral elemental iron between 65–200 mg per day are recommended. While oral iron is presently the gold standard for mild to moderate iron-deficiency anemia,[4] treatment doses of elemental iron often result in significant gastrointestinal side effects, resulting in reduced compliance. If oral iron cannot be tolerated or is proven ineffective, intravenous iron can induce repletion of iron stores within 1–2 days and normalization of hemoglobin levels in 1–3 weeks.[2][4] Treatment should target the underlying disease or condition affecting the patient. * The majority of obstetric anemia cases can be treated based on their etiology if diagnosed in time. Oral iron supplementation is the gold standard for the treatment of iron deficiency anemia and intravenous iron can be used when oral iron is not effective or tolerated from the second trimester of pregnancy onwards.[17] * Treatment of postpartum hemorrhage is multifactorial and includes medical management, surgical management along with blood product support.[12][18] ### Transfusion[edit] Blood product transfusion carries a number of risks both infectious as well as non-infectious. Transfusion transmissible diseases include, but are not limited to the following: human immunodeficiency virus (HIV), hepatitis C virus, hepatitis B virus, West Nile virus, syphilis, Chagas disease, Zika virus, Dengue fever and Chikungunya virus. Non-infectious risks of blood product transfusion include, but are not limited to: hemolytic transfusion reactions,[19] allergic and anaphylactic transfusion reactions, transfusion associated circulatory overload, transfusion-related acute lung injury (TRALI),[20][21] transfusion associated graft versus host disease [22]and febrile non-hemolytic transfusion reactions.[23] Because of these risks, blood product transfusion should only be used in cases of acute bleeding, severe cases of refractory anemia and in conditions where maternal hemoglobin levels are so low, that there is thought to be imminent risk to mother or fetus. ## Epidemiology[edit] In healthy women after normal delivery, the prevalence of anemia (defined as hemoglobin < 11 g/dL) 1 week postpartum is 14% in iron supplemented women and 24% in non-supplemented women.[11] ## Guidelines[edit] 1. Pavord, S; Myers, B; Robinson, S; Allard, S; Strong, J; Oppenheimer, C (Mar 2012). "UK guidelines on the management of iron deficiency in pregnancy". Br J Haematol. 156 (5): 588–600. doi:10.1111/j.1365-2141.2011.09012.x. PMID 2251200. S2CID 12588512. 2. Markova, V; Norgaard, A; Jorgensen, KJ; Langhoff-Roos, J (2015). "Treatment for women with postpartum iron deficiency anaemia". Cochrane Database Syst Rev. (8): CD010861. doi:10.1002/14651858.CD010861.pub2. PMID 26270434. 3. Peña-Rosas, JP; De-Regil, LM; Garcia-Casal, MN; Dowswell, T (22 July 2015). "Daily oral iron supplementation during pregnancy". The Cochrane Database of Systematic Reviews (7): CD004736. doi:10.1002/14651858.CD004736.pub5. PMC 4233117. PMID 26198451. 4. Dahlke, JD; Mendez-Figueroa, H; Maggio, L; Hauspurg, AK; Sperling, JD; Chauhan, SP; Rouse, DJ (2015). "Prevention and management of postpartum hemorrhage: a comparison of 4 national guidelines". Am J Obstet Gynecol. 213 (1): 761–10. doi:10.1016/j.ajog.2015.02.023. PMID 25731692. 5. Shaylor, R; Weiniger, CF; Austin, N; Tzabazis, A; Shander, A; Goodnough, LT; Butwick, AJ (2017). "National and international guidelines for patient blood management in obstetrics: a qualitative review". Anesth Analg. 124 (1): 216–32. doi:10.1213/ANE.0000000000001473. PMC 5161642. PMID 27557476. 6. Tunçalp, Ő; Souza, JP; Gűlmezoglu, M (Dec 2013). "New WHO recommendations on prevention and treatment of postpartum hemorrhage". Int J Gynaecol Obstet. 123 (3): 254–6. doi:10.1016/j.ijgo.2013.06.024. PMID 24054054. S2CID 40664131. ## References[edit] 1. ^ "Anemia \| NHLBI, NIH". www.nhlbi.nih.gov. Retrieved 2020-10-29. 2. ^ a b c Pavord, Sue; Myers, Bethan; Robinson, Susan; Allard, Shubha; Strong, Jane; Oppenheimer, Christina; British Committee for Standards in Haematology (March 2012). "UK guidelines on the management of iron deficiency in pregnancy". British Journal of Haematology. 156 (5): 588–600. doi:10.1111/j.1365-2141.2011.09012.x. ISSN 1365-2141. PMID 22512001. S2CID 12588512. 3. ^ a b "Home \| National Heart, Lung, and Blood Institute (NHLBI)". www.nhlbi.nih.gov. Retrieved 2018-07-25. 4. ^ a b c d e f Breymann, Christian (October 2015). "Iron Deficiency Anemia in Pregnancy". Seminars in Hematology. 52 (4): 339–347. doi:10.1053/j.seminhematol.2015.07.003. ISSN 1532-8686. PMID 26404445. 5. ^ a b Henry's clinical diagnosis and management by laboratory methods. Henry, John Bernard, 1928-2009., McPherson, Richard A., Pincus, Matthew R. (22nd ed.). Philadelphia, PA: Elsevier/Saunders. 2011. ISBN 9781437709742. OCLC 700376882.CS1 maint: others (link) 6. ^ a b c "Anemia". www.marchofdimes.org. Retrieved 2020-10-20. 7. ^ a b c Roy, N. B. A.; Pavord, S. (April 2018). "The management of anaemia and haematinic deficiencies in pregnancy and post-partum". Transfusion Medicine (Oxford, England). 28 (2): 107–116. doi:10.1111/tme.12532. ISSN 1365-3148. PMID 29744977. S2CID 13665022. 8. ^ a b Geng, Fengji; Mai, Xiaoqin; Zhan, Jianying; Xu, Lin; Zhao, Zhengyan; Georgieff, Michael; Shao, Jie; Lozoff, Betsy (December 2015). "Impact of Fetal-Neonatal Iron Deficiency on Recognition Memory at 2 Months of Age". The Journal of Pediatrics. 167 (6): 1226–1232. doi:10.1016/j.jpeds.2015.08.035. ISSN 1097-6833. PMC 4662910. PMID 26382625. 9. ^ Beard, John L. (December 2008). "Why iron deficiency is important in infant development". The Journal of Nutrition. 138 (12): 2534–2536. doi:10.1093/jn/138.12.2534. ISSN 1541-6100. PMC 3415871. PMID 19022985. 10. ^ Lozoff, Betsy; Beard, John; Connor, James; Barbara, Felt; Georgieff, Michael; Schallert, Timothy (May 2006). "Long-lasting neural and behavioral effects of iron deficiency in infancy". Nutrition Reviews. 64 (5 Pt 2): S34–43, discussion S72–91. doi:10.1301/nr.2006.may.S34-S43. ISSN 0029-6643. PMC 1540447. PMID 16770951. 11. ^ a b Milman, Nils (November 2011). "Postpartum anemia I: definition, prevalence, causes, and consequences". Annals of Hematology. 90 (11): 1247–1253. doi:10.1007/s00277-011-1279-z. ISSN 1432-0584. PMID 21710167. S2CID 10708081. 12. ^ a b c Dahlke, Joshua D.; Mendez-Figueroa, Hector; Maggio, Lindsay; Hauspurg, Alisse K.; Sperling, Jeffrey D.; Chauhan, Suneet P.; Rouse, Dwight J. (July 2015). "Prevention and management of postpartum hemorrhage: a comparison of 4 national guidelines". American Journal of Obstetrics and Gynecology. 213 (1): 76.e1–10. doi:10.1016/j.ajog.2015.02.023. ISSN 1097-6868. PMID 25731692. 13. ^ Abbassi-Ghanavati, Mina; Greer, Laura G.; Cunningham, F. Gary (December 2009). "Pregnancy and laboratory studies: a reference table for clinicians". Obstetrics and Gynecology. 114 (6): 1326–1331. doi:10.1097/AOG.0b013e3181c2bde8. ISSN 1873-233X. PMID 19935037. S2CID 24249021. 14. ^ a b c d "Iron-deficiency anemia". womenshealth.gov. 2017-02-17. Retrieved 2020-10-29. 15. ^ Jansen, A. J. G.; van Rhenen, D. J.; Steegers, E. a. P.; Duvekot, J. J. (October 2005). "Postpartum hemorrhage and transfusion of blood and blood components". Obstetrical & Gynecological Survey. 60 (10): 663–671. doi:10.1097/01.ogx.0000180909.31293.cf. ISSN 0029-7828. PMID 16186783. S2CID 1910601. 16. ^ Peña-Rosas, Juan Pablo; De-Regil, Luz Maria; Garcia-Casal, Maria N.; Dowswell, Therese (2015-07-22). "Daily oral iron supplementation during pregnancy". The Cochrane Database of Systematic Reviews (7): CD004736. doi:10.1002/14651858.CD004736.pub5. ISSN 1469-493X. PMID 26198451. 17. ^ Markova, Veronika; Norgaard, Astrid; Jørgensen, Karsten Juhl; Langhoff-Roos, Jens (2015-08-13). "Treatment for women with postpartum iron deficiency anaemia". The Cochrane Database of Systematic Reviews (8): CD010861. doi:10.1002/14651858.CD010861.pub2. ISSN 1469-493X. PMID 26270434. 18. ^ Shaylor, Ruth; Weiniger, Carolyn F.; Austin, Naola; Tzabazis, Alexander; Shander, Aryeh; Goodnough, Lawrence T.; Butwick, Alexander J. (January 2017). "National and International Guidelines for Patient Blood Management in Obstetrics: A Qualitative Review". Anesthesia and Analgesia. 124 (1): 216–232. doi:10.1213/ANE.0000000000001473. ISSN 1526-7598. PMC 5161642. PMID 27557476. 19. ^ Savage WJ (June 2016). "Transfusion Reactions". Hematology/Oncology Clinics of North America. 30 (3): 619–34. doi:10.1016/j.hoc.2016.01.012. PMID 27113000. 20. ^ Otrock, Z. K.; Liu, C.; Grossman, B. J. (2017). "Transfusion-related acute lung injury risk mitigation: An update". Vox Sanguinis. 112 (8): 694–703. doi:10.1111/vox.12573. PMID 28948604. S2CID 4109565. 21. ^ Kuldanek, Susan A.; Kelher, Marguerite; Silliman, Christopher C. (2019). "Risk factors, management and prevention of transfusion-related acute lung injury: A comprehensive update". Expert Review of Hematology. 12 (9): 773–785. doi:10.1080/17474086.2019.1640599. PMC 6715498. PMID 31282773. 22. ^ Kopolovic, Ilana; Ostro, Jackie; Tsubota, Hideki; Lin, Yulia; Cserti-Gazdewich, Christine M.; Messner, Hans A.; Keir, Amy K.; DenHollander, Neal; Dzik, Walter S.; Callum, Jeannie (2015-07-16). "A systematic review of transfusion-associated graft-versus-host disease". Blood. 126 (3): 406–414. doi:10.1182/blood-2015-01-620872. ISSN 0006-4971. PMID 25931584. 23. ^ Goel, Ruchika; Tobian, Aaron A. R.; Shaz, Beth H. (2019-04-25). "Noninfectious transfusion-associated adverse events and their mitigation strategies". Blood. 133 (17): 1831–1839. doi:10.1182/blood-2018-10-833988. ISSN 0006-4971. PMID 30808635. [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 inhibitors [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-aminobutyric 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	Anemia in pregnancy	c0271930	27,656	wikipedia	https://en.wikipedia.org/wiki/Anemia_in_pregnancy	2021-01-18T18:45:00	{"umls": ["C0271930", "C0269684"], "icd-9": ["648.2"], "icd-10": ["O99.0"], "wikidata": ["Q59484501"]}
For the lung condition, see Swyer–James syndrome. XY gonadal dysgenesis Other namesSwyer syndrome Protein SRY SpecialtyMedical genetics XY gonadal dysgenesis, also known as Swyer syndrome, is a type of hypogonadism in a person whose karyotype is 46,XY. They typically have normal female external genitalia, and are female.[1] The person is female but with functionless gonads, fibrous tissue termed "streak gonads," and if left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing cancer). The typical medical treatment is hormone replacement therapy.[2] The syndrome was named after Gerald Swyer, an endocrinologist based in London. ## Contents * 1 Signs and symptoms * 2 Genetics * 2.1 Pure gonadal dysgenesis * 3 Pathogenesis * 4 Diagnosis * 4.1 Related conditions * 5 Treatment * 6 Epidemiology * 7 History * 8 References * 9 Further reading * 10 External links ## Signs and symptoms[edit] People with Swyer syndrome are born with the appearance of a normal female in most anatomic respects except that the child has nonfunctional gonads instead of ovaries or testes. As their ovaries produce no important body changes before puberty, a defect of the reproductive system typically remains unsuspected until puberty fails to occur. They appear to be normal girls and are generally considered so. They are usually diagnosed in their teens when they fail to begin having a menstrual period (primary amenorrhea).[3] The consequences of Swyer syndrome without treatment: * Gonads cannot make estrogen, so the breasts will not develop and the uterus will not grow and menstruate until estrogen is administered. This is often given transdermally. * Gonads cannot make progesterone, so menstrual periods will not be predictable until progestin is administered, usually as a pill. * Gonads cannot produce eggs, so conceiving children is not possible without intervention. There has been a case of unassisted pregnancy in one women with XY gonadal dysgenesis, who had a predominantly 46,XY Karyotype - a 46,XY karyotype in peripheral lymphocytes, mosaicism in cultured skin fibroblasts (80% 46,XY and 20% 45,X) and a predominantly 46,XY karyotype in the ovary (93% 46,XY and 6% 45,X) - who gave birth to a 46,XY female with complete gonadal dysgenesis. [4] A woman with a uterus and ovaries but without female gamete is able to become pregnant by implantation of another woman's fertilized egg (embryo transfer). * Streak gonads with Y chromosome-containing cells have a high likelihood of developing cancer, especially gonadoblastoma.[5] Streak gonads are usually removed within a year or so of diagnosis, since the cancer can begin during infancy. * Osteopenia is often present[6] ## Genetics[edit] Genetic associations of Swyer syndrome include: Type OMIM Gene Locus 46,XY gonadal dysgenesis, complete, SRY-related 400044 SRY Yp11.3 46,XY gonadal dysgenesis, complete or partial, DHH-related 233420 DHH 12q13.1 46,XY gonadal dysgenesis, complete or partial, with or without adrenal failure 612965 NR5A1 9q33 46,XY gonadal dysgenesis, complete, CBX2-related 613080 CBX2 17q25 46,XY gonadal dysgenesis, complete or partial, with 9p24.3 deletion 154230 DMRT1/2 9p24.3 Seven other genes have been identified with probable associations that are as-yet less clearly understood.[7] ### Pure gonadal dysgenesis[edit] There are several forms of gonadal dysgenesis. The term "pure gonadal dysgenesis" (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with Turner syndrome (i.e., 45,X) and its variants, as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X). Thus Swyer syndrome is referred to as PGD, 46,XY, and XX gonadal dysgenesis as PGD, 46,XX.[8] People with PGD have a normal karyotype but may have defects of a specific gene on a chromosome. ## Pathogenesis[edit] The first known step of sexual differentiation of a normal XY fetus is the development of testes. The early stages of testicular formation in the second month of gestation requires the action of several genes, one of the earliest and most important of which is SRY: the sex-determining region of the Y chromosome. Mutations of SRY account for many cases of Swyer syndrome. When such a gene is defective, the indifferent gonads fail to differentiate into testes in an XY (genetically male) fetus. Without testes, no testosterone or antimüllerian hormone (AMH) is produced. Without testosterone, the wolffian ducts fail to develop, so no internal male organs are formed. Also, the lack of testosterone means that no dihydrotestosterone is formed and consequently the external genitalia fail to virilize, resulting in normal female genitalia. Without AMH, the Müllerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina). ## Diagnosis[edit] Due to the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. As the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these persons will develop pubic hair, though it often remains sparse. Evaluation of delayed puberty usually reveals elevation of gonadotropins, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation usually include checking a karyotype and imaging of the pelvis. The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). Although an XY karyotype can also indicate a person with complete androgen insensitivity syndrome, the absence of breasts, and the presence of a uterus and pubic hair exclude the possibility. At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome. ### Related conditions[edit] Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis. Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. Other examples include complete androgen insensitivity syndrome, partial X chromosome deletions, lipoid congenital adrenal hyperplasia, and Turner syndrome. ## Treatment[edit] Upon diagnosis, estrogen and progestogen therapy is typically commenced, promoting the development of female characteristics. Hormone replacement therapy can also reduce the likelihood of osteoporosis.[9] ## Epidemiology[edit] It has been estimated that the incidence of Swyer syndrome is approximately 1 in 100,000 people.[10] Fewer than 100 cases have been reported as of 2018.[10] There are extremely rare instances of familial Swyer syndrome.[10] ## History[edit] Swyer syndrome was first described by G. I. M. Swyer in 1955 in a report of two cases.[10] ## References[edit] 1. ^ Reference, Genetics Home. "Swyer syndrome". Genetics Home Reference. Retrieved 6 May 2019. 2. ^ Massanyi EZ, Dicarlo HN, Migeon CJ, Gearhart JP (29 December 2012). "Review and management of 46,XY disorders of sex development". J Pediatr Urol. 9 (3): 368–379. doi:10.1016/j.jpurol.2012.12.002. PMID 23276787. 3. ^ https://rarediseases.org/rare-diseases/swyer-syndrome/ 4. ^ Dumic, Miroslav; Lin-Su, Karen; Leibel, Natasha I.; Ciglar, Srecko; Vinci, Giovanna; Lasan, Ruzica; Nimkarn, Saroj; Wilson, Jean D.; McElreavey, Ken; New, Maria I. (1 January 2008). "Report of Fertility in a Woman with a Predominantly 46,XY Karyotype in a Family with Multiple Disorders of Sexual Development". The Journal of Clinical Endocrinology & Metabolism. 93 (1): 182–189. doi:10.1210/jc.2007-2155. PMC 2190741. PMID 18000096. 5. ^ Eh, Zheng; Liu, Weili (June 1994). "A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal tumors". Chinese Journal of Cancer Research. 6 (2): 144–148. doi:10.1007/BF02997250. S2CID 84107076. Originally published in Chinese as E, Z; Xu, XL; Li, C; Gao, FZ (May 1981). "家族性XY型性腺发育不全和高发胚胎性肿瘤研究：Ⅱ．XY型性腺发育不全姐妹中第4人继发无性细胞瘤报告和细胞遗传学检查" [A familial XY gonadal dysgenesis causing high incidence of embryonic gonadal tumors- a report of the fourth dysgerminoma in sibling suffering from 46, XY gonadal dysgenesis]. Zhonghua Zhong Liu Za Zhi (in Chinese). 3 (2): 89–90. PMID 7307902. 6. ^ https://obgyn.onlinelibrary.wiley.com/doi/abs/10.1111/j.1471-0528.2008.01703.x 7. ^ Kremen J, Chan YM, Swartz JM (January 2017). "Recent findings on the genetics of disorders of sex development". Curr Opin Urol. 27 (1): 1–6. doi:10.1097/MOU.0000000000000353. PMC 5877806. PMID 27798415. 8. ^ Bomalaski, M. David (February 2005). "A practical approach to intersex". Urologic Nursing. 25 (1): 11–8, 23, quiz 24. PMID 15779688. 9. ^ "Swyer Syndrome". MedlinePlus Genetics. 10. ^ a b c d Banoth M, Naru RR, Inamdar MB, Chowhan AK (May 2018). "Familial Swyer syndrome: a rare genetic entity". Gynecol. Endocrinol. 34 (5): 389–393. doi:10.1080/09513590.2017.1393662. PMID 29069951. S2CID 4452231. ## Further reading[edit] * Stoicanescu D, Belengeanu V, et al. (2006). "Complete gonadal dysgenesis with XY chromosomal constitution". Acta Endocrinologica (Buc). 2 (4): 465–70. doi:10.4183/aeb.2006.465. ## External links[edit] Classification D * ICD-10: Q56.4 * ICD-9-CM: 752.7 * OMIM: 400044 * MeSH: D006061 * DiseasesDB: 31464 * v * t * e Female congenital anomalies of the genitalia, including Intersex and DSD Internal Uterine malformation * Müllerian agenesis * Cervical agenesis * Unicornuate uterus * Uterus didelphys * Bicornuate uterus * Uterine septum * Arcuate uterus Vagina * Vaginal septum * Vaginal hypoplasia * Imperforate hymen * Vaginal adenosis * Cloacal exstrophy * Vaginal atresia External * Clitoromegaly * Progestin-induced virilization * Pseudohermaphroditism * True hermaphroditism * v * t * e Extracellular ligand disorders Cytokine * EDA Hypohidrotic ectodermal dysplasia * Camurati–Engelmann disease Ephrin * Craniofrontonasal dysplasia WNT * Tetra-amelia syndrome TGF * OFC 11 Fas ligand * Autoimmune lymphoproliferative syndrome 1B Endothelin * EDN3 * Waardenburg syndrome IVb * Hirschsprung's disease 4 Other * DHH (DHH XY gonadal dysgenesis) * BMP15 (Premature ovarian failure 4) * TSHB (Congenital hypothyroidism 4) See also intercellular signaling peptides and proteins * v * t * e Genetic disorders relating to deficiencies of transcription factor or coregulators (1) Basic domains 1.2 * Feingold syndrome * Saethre–Chotzen syndrome 1.3 * Tietz syndrome (2) Zinc finger DNA-binding domains 2.1 * (Intracellular receptor): Thyroid hormone resistance * Androgen insensitivity syndrome * PAIS * MAIS * CAIS * Kennedy's disease * PHA1AD pseudohypoaldosteronism * Estrogen insensitivity syndrome * X-linked adrenal hypoplasia congenita * MODY 1 * Familial partial lipodystrophy 3 * SF1 XY gonadal dysgenesis 2.2 * Barakat syndrome * Tricho–rhino–phalangeal syndrome 2.3 * Greig cephalopolysyndactyly syndrome/Pallister–Hall syndrome * Denys–Drash syndrome * Duane-radial ray syndrome * MODY 7 * MRX 89 * Townes–Brocks syndrome * Acrocallosal syndrome * Myotonic dystrophy 2 2.5 * Autoimmune polyendocrine syndrome type 1 (3) Helix-turn-helix domains 3.1 * ARX * Ohtahara syndrome * Lissencephaly X2 * MNX1 * Currarino syndrome * HOXD13 * SPD1 synpolydactyly * PDX1 * MODY 4 * LMX1B * Nail–patella syndrome * MSX1 * Tooth and nail syndrome * OFC5 * PITX2 * Axenfeld syndrome 1 * POU4F3 * DFNA15 * POU3F4 * DFNX2 * ZEB1 * Posterior polymorphous corneal dystrophy * Fuchs' dystrophy 3 * ZEB2 * Mowat–Wilson syndrome 3.2 * PAX2 * Papillorenal syndrome * PAX3 * Waardenburg syndrome 1&3 * PAX4 * MODY 9 * PAX6 * Gillespie syndrome * Coloboma of optic nerve * PAX8 * Congenital hypothyroidism 2 * PAX9 * STHAG3 3.3 * FOXC1 * Axenfeld syndrome 3 * Iridogoniodysgenesis, dominant type * FOXC2 * Lymphedema–distichiasis syndrome * FOXE1 * Bamforth–Lazarus syndrome * FOXE3 * Anterior segment mesenchymal dysgenesis * FOXF1 * ACD/MPV * FOXI1 * Enlarged vestibular aqueduct * FOXL2 * Premature ovarian failure 3 * FOXP3 * IPEX 3.5 * IRF6 * Van der Woude syndrome * Popliteal pterygium syndrome (4) β-Scaffold factors with minor groove contacts 4.2 * Hyperimmunoglobulin E syndrome 4.3 * Holt–Oram syndrome * Li–Fraumeni syndrome * Ulnar–mammary syndrome 4.7 * Campomelic dysplasia * MODY 3 * MODY 5 * SF1 * SRY XY gonadal dysgenesis * Premature ovarian failure 7 * SOX10 * Waardenburg syndrome 4c * Yemenite deaf-blind hypopigmentation syndrome 4.11 * Cleidocranial dysostosis (0) Other transcription factors 0.6 * Kabuki syndrome Ungrouped * TCF4 * Pitt–Hopkins syndrome * ZFP57 * TNDM1 * TP63 * Rapp–Hodgkin syndrome/Hay–Wells syndrome/Ectrodactyly–ectodermal dysplasia–cleft syndrome 3/Limb–mammary syndrome/OFC8 Transcription coregulators Coactivator: * CREBBP * Rubinstein–Taybi syndrome Corepressor: * HR (Atrichia with papular lesions) [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 inhibitors [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-aminobutyric 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	XY gonadal dysgenesis	c0018054	27,657	wikipedia	https://en.wikipedia.org/wiki/XY_gonadal_dysgenesis	2021-01-18T19:03:07	{"gard": ["5068"], "mesh": ["D006061"], "umls": ["C0018054", "C0238395"], "icd-9": ["752.7"], "icd-10": ["Q56.4"], "orphanet": ["242"], "wikidata": ["Q957751"]}
X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome). ## Epidemiology It has been described in two brothers, one of whom died shortly after birth. ## Clinical description One of the brothers also had Hirschsprung disease and Cleft palate/cryptorchidism (giving the acronym: BRESHECK syndrome) ## Genetic counseling Transmission is X-linked dominant. [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 inhibitors [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-aminobutyric 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	BRESEK syndrome	c3502469	27,658	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=85284	2021-01-23T18:33:27	{"mesh": ["C564519"], "omim": ["308205"], "umls": ["C3502469"], "icd-10": ["Q87.8"], "synonyms": ["BRESHECK syndrome"]}
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 needs additional citations for verification. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. Find sources: "Developmental dysfluency" – news · newspapers · books · scholar · JSTOR (October 2019) (Learn how and when to remove this template message) This article provides insufficient context for those unfamiliar with the subject. Please help improve the article by providing more context for the reader. (October 2019) (Learn how and when to remove this template message) This article needs editing for compliance with Wikipedia's Manual of Style. Please help improve it if you can. (October 2019) (Learn how and when to remove this template message) This article may be in need of reorganization to comply with Wikipedia's layout guidelines. Please help by editing the article to make improvements to the overall structure. (October 2019) (Learn how and when to remove this template message) This article may need to be rewritten to comply with Wikipedia's quality standards. You can help. The talk page may contain suggestions. (October 2019) It has been suggested that this article be merged with Developmental Dysfluency. (Discuss) Proposed since November 2020. (Learn how and when to remove this template message) Normal disfluency of early childhood ## Contents * 1 Introduction * 1.1 Statistics * 2 When is Intervention Required? * 3 References * 4 Sources ## Introduction[edit] Developmental dysfluency, also called "normal dysfluency", is a normal stage of language development, occurring during the toddler and preschool years. Developmental dysfluency consists of any number of inconsistencies in speech such as stuttering, repetition, mistiming or poor inflection. Speech is a complicated achievement that involves a series of cognitive and linguistic processes that are both sensorimotor and auditory. As children grow, their language and vocabulary grows exponentially. As this happens, it is possible that a child might begin to demonstrate forms of dysfluencies in their speech as they begin to speak. The most common form of dysfluency in children younger than three years of age is the repetition of one syllable words or parts of words, especially at the beginning of their sentences as they try to form the sentence correctly. As children grow and go through the developmental stages of their lives, language learning may be more dysfluent in some than others. These occurrences, however, are normal. When attempting to master spoken language, children gradually develop fluent speech. Children go through the same learning patterns when they learn their first language as adults do when they learn to speak languages other than their native one. ### Statistics[edit] Preschool children usually go through a period of dysfluency as they attempt to learn linguistic and speech skills. About 10% of these children will experience a speech or language delay that is serious enough for them to benefit from early referral and assessment by a speech language pathologist (SLP). Normal dysfluency begins during a child's intensive language years and dissipates as the child continues to grow and develop. These dysfluencies are considered a normal phase of language development.[1] Additionally, 85% of children, before preschool age will experience developmental dysfluency. These children won’t require intervention because their dysfluency is a normal part of their development. 1 in 12 children, ages 3-17, will experience issues with their speech that is not considered within the normal realm of developmental dysfluency. However, only half of those individuals will receive intervention and speech therapy.[1] Children who do not require speech therapy will often outgrow the period of dysfluency. Experts find that there is a distinction between childhood dysfluency that will likely correct itself and other disorders such as stuttering. [2] ## When is Intervention Required?[edit] There are several warning signs of speech delays that are not considered developmentally normal.[3] * Babies that don’t “coo” or babble * Babies that don’t respond to noise or speech around them * Their first words have not been spoken by 15 months * They have a 50-word vocabulary, or less, by two years old * Others struggle to understand what your child is saying at 3 years or older * Other adults should be able to understand at least 75% of what child says[4] * Struggles to follow simple instructions at 2 years old and beyond * Has speech sound error after five years old * "t” “d” and “n” should be pronounced correctly by age 3 Experts recommend an initial evaluation by a pediatrician, who might also recommend an evaluation by a speech-language pathologist.[5] ## References[edit] 1. ^ a b Weir, Erica; Bianchet, Sonya (2004-06-08). "Developmental dysfluency: early intervention is key". CMAJ : Canadian Medical Association Journal. 170 (12): 1790–1791. doi:10.1503/cmaj.1040733. ISSN 0820-3946. PMID 15184330. 2. ^ "Stuttering". NIDCD. 2015-08-18. Retrieved 2020-11-02. 3. ^ Howell, Beth Cooper (2020-05-26). "Does my child need speech therapy? Look out for these signs". Living and Loving. Retrieved 2020-11-02. 4. ^ "How to Know if Your Child Needs a Speech Evaluation". Health Essentials from Cleveland Clinic. 2014-07-28. Retrieved 2020-11-02. 5. ^ "Delayed Speech or Language Development (for Parents) - Nemours KidsHealth". kidshealth.org. Retrieved 2020-11-02. ## Sources[edit] * Anderson, Jeffrey M.; Hughes, John D.; Rothi, Leslie J. Gonzalez; Crucian, Gregory P.; Heilman, K. M. (1999-06-01). "Developmental stuttering and Parkinson's disease: the effects of levodopa treatment". Journal of Neurology, Neurosurgery & Psychiatry. 66(6): 776–778. doi:10.1136/jnnp.66.6.776. ISSN 0022-3050. PMID 10329754. * "Brain Development and Mastery of Language in the Early Childhood Years". IDRA. Retrieved 2019-10-21. * Chang, Soo-Eun; Erickson, Kirk I.; Ambrose, Nicoline G.; Hasegawa-Johnson, Mark A.; Ludlow, Christy L. (February 2008). "Brain anatomy differences in childhood stuttering". NeuroImage. 39 (3): 1333–1344. doi:10.1016/j.neuroimage.2007.09.067. ISSN 1053-8119. PMC 2731627. PMID 18023366. * Chang, Soo-Eun; Zhu, David C. (December 2013). "Neural network connectivity differences in children who stutter". Brain: A Journal of Neurology. 136 (Pt 12): 3709–3726. doi:10.1093/brain/awt275. ISSN 1460-2156. PMC 3859219. PMID 24131593. * "Childhood Fluency Disorders: Overview". American Speech-Language-Hearing Association. Retrieved 2019-10-20. * "Cluttering \| Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 2019-10-20. * Culatta, Richard (1989–1990). "The Differential Diagnosis of Disfluency" (PDF). National Student Speech Language Hearing Association Journal. 17: 59–64. * "Developmental Disfluency vs. Atypical Dysfluency/Stuttering: When to be Concerned". Eyas Landing. 2019-05-29. Retrieved 2019-10-20. * Schrader M, editor. Parent articles 1: Enhance parent involvement in language learning. Arizona: Communication Skill Builders; 1996. * "Stuttering". American Speech-Language-Hearing Association. Retrieved 2019-10-20. * "Stuttering in Toddlers & Preschoolers: What's Typical, What's Not?". HealthyChildren.org. Retrieved 2019-10-20. * Trubo, Richard (2001). "Stuttering". The New Book Of Knowledge - Health and Medicine: 112-123. United States of America: Grolier Incorporated. ISBN 0-7172-0608-4. Note: This annual was also published under the title The 2001 World Book Health & Medical Annual, United States of America: 2001 World Book, Inc. * Watkins, Kate E.; Smith, Stephen M.; Davis, Steve; Howell, Peter (2008-1). "Structural and functional abnormalities of the motor system in developmental stuttering". Brain: A Journal of Neurology. 131 (Pt 1): 50–59. doi:10.1093/brain/awm241. ISSN 1460-2156. PMC 2492392\. PMID 17928317 * "What is Cluttering?". speech IRL. 2019-07-11. Retrieved 2019-10-20. * Weber-Fox, Christine; Hampton Wray, Amanda; Arnold, Hayley (2013-6). "Early childhood stuttering and electrophysiological indices of language processing". Journal of Fluency Disorders. 38 (2): 206–221. doi:10.1016/j.jfludis.2013.01.001. PMC 3687214\. PMID 23773672 * Weir, Erica; Bianchet, Sonya (2004-06-08). "Developmental dysfluency: early intervention is key". CMAJ : Canadian Medical Association Journal. 170(12): 1790–1791. doi:10.1503/cmaj.1040733. ISSN 0820-3946. PMID 15184330. * Zebrowski, Patricia M. (2003-07-01). "Developmental Stuttering". Pediatric Annals. 32(7): 453–458. doi:10.3928/0090-4481-20030701-07. ISSN 0090-4481. [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 inhibitors [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-aminobutyric 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	Developmental dysfluency	c0454535	27,659	wikipedia	https://en.wikipedia.org/wiki/Developmental_dysfluency	2021-01-18T18:51:22	{"wikidata": ["Q5266803"]}
Lipoid pneumonia Other namesLipoid pneumonia, cholesterol pneumonia Lipid pneumonia, exogenous Case 108 SpecialtyPulmonology Lipoid pneumonia is a specific form of lung inflammation (pneumonia) that develops when lipids enter the bronchial tree. The disorder is sometimes called cholesterol pneumonia in cases where that lipid is a factor.[1] ## Contents * 1 Signs and symptoms * 2 Causes * 3 Appearance * 4 Treatment * 5 Prognosis * 6 History * 7 References * 8 Further reading * 9 External links ## Signs and symptoms[edit] The pneumonia presents as a foreign body reaction causing cough, dyspnea, and often fever. Hemoptysis has also been reported.[2] ## Causes[edit] Sources of such lipids could be either exogenous or endogenous. [3] Exogenous: from outside the body. For example, inhaled nose drops with an oil base, or accidental inhalation of cosmetic oil. Amiodarone is an anti-arrythmic known to cause this condition. Oil pulling has also been shown to be a cause.[4] Fire breather's pneumonia from the inhalation of hydrocarbon fuel is a specific variant. At risk populations include the elderly, developmentally delayed or persons with gastroesophageal reflux. Switching to water-soluble alternatives may be helpful in some situations.[2] Endogenous: from the body itself, for example, when an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.[5] ## Appearance[edit] The gross appearance of a lipid pneumonia is that in which there is an ill-defined, pale yellow area on the lung. This yellow appearance explains the colloquial term "golden" pneumonia. At the microscopic scale foamy macrophages and giant cells are seen in the airways, and the inflammatory response is visible in the parenchyma. ## Treatment[edit] Treatment is with corticosteroids and possibly intravenous immunoglobulins. ## Prognosis[edit] Endogenous lipoid pneumonia and non-specific interstitial pneumonitis has been seen prior to the development of pulmonary alveolar proteinosis in a child.[5] ## History[edit] Laughlen first described lipid pneumonia in 1925 with infants that inhaled oil droplets.[6] It is a condition that has been seen as an occupational risk for commercial diving operations but documented cases are rare.[6] ## References[edit] 1. ^ Pelz L, Hobusch D, Erfurth F, Richter K (1972). "[Familial cholesterol pneumonia]". Helv Paediatr Acta. 27 (4): 371–9. PMID 4644274. 2. ^ a b Moe Bell, Marvin (2015). "Lipoid pneumonia: An unusual and preventable illness in elderly patients". Canadian Family Physician. 61 (9): 775–777. PMC 4569110. PMID 26371101. 3. ^ "Pulmonary Pathology". Retrieved 21 November 2008. 4. ^ Kim JY, Jung JW, Choi JC, Shin JW, Park IW, Choi BW (February 2014). "Recurrent lipoid pneumonia associated with oil pulling". The International Journal of Tuberculosis and Lung Disease. 18 (2): 251–2. doi:10.5588/ijtld.13.0852. PMID 24429325. 5. ^ a b Antoon JW, Hernandez ML, Roehrs PA, Noah TL, Leigh MW, Byerley JS (2014). "Endogenous lipoid pneumonia preceding diagnosis of pulmonary alveolar proteinosis". Clin Respir J. doi:10.1111/crj.12197. PMID 25103284. 6. ^ a b Kizer KW, Golden JA (November 1987). "Lipoid pneumonitis in a commercial abalone diver". Undersea Biomedical Research. 14 (6): 545–52. PMID 3686744. Retrieved 2 April 2013. ## Further reading[edit] * Spickard, Anderson; Hirschmann, JV (28 March 1994). "Exogenous Lipoid Pneumonia". Archives of Internal Medicine. 154 (6): 686–92. doi:10.1001/archinte.1994.00420060122013. PMID 8129503. * Betancourt, SL; Martinez-Jimenez, S; Rossi, SE; Truong, MT; Carrillo, J; Erasmus, JJ (January 2010). "Lipoid pneumonia: spectrum of clinical and radiologic manifestations". AJR. American Journal of Roentgenology. 194 (1): 103–9. doi:10.2214/ajr.09.3040. PMID 20028911. ## External links[edit] Classification D * ICD-9-CM: 516.8 * OMIM: 215030 * MeSH: D011017 * Gross pathology specimen from the University of Utah * v * t * e Diseases of the respiratory system Upper RT (including URTIs, common cold) Head sinuses Sinusitis nose Rhinitis Vasomotor rhinitis Atrophic rhinitis Hay fever Nasal polyp Rhinorrhea nasal septum Nasal septum deviation Nasal septum perforation Nasal septal hematoma tonsil Tonsillitis Adenoid hypertrophy Peritonsillar abscess Neck pharynx Pharyngitis Strep throat Laryngopharyngeal reflux (LPR) Retropharyngeal abscess larynx Croup Laryngomalacia Laryngeal cyst Laryngitis Laryngopharyngeal reflux (LPR) Laryngospasm vocal cords Laryngopharyngeal reflux (LPR) Vocal fold nodule Vocal fold paresis Vocal cord dysfunction epiglottis Epiglottitis trachea Tracheitis Laryngotracheal stenosis Lower RT/lung disease (including LRTIs) Bronchial/ obstructive acute Acute bronchitis chronic COPD Chronic bronchitis Acute exacerbation of COPD) Asthma (Status asthmaticus Aspirin-induced Exercise-induced Bronchiectasis Cystic fibrosis unspecified Bronchitis Bronchiolitis Bronchiolitis obliterans Diffuse panbronchiolitis Interstitial/ restrictive (fibrosis) External agents/ occupational lung disease Pneumoconiosis Aluminosis Asbestosis Baritosis Bauxite fibrosis Berylliosis Caplan's syndrome Chalicosis Coalworker's pneumoconiosis Siderosis Silicosis Talcosis Byssinosis Hypersensitivity pneumonitis Bagassosis Bird fancier's lung Farmer's lung Lycoperdonosis Other * ARDS * Combined pulmonary fibrosis and emphysema * Pulmonary edema * Löffler's syndrome/Eosinophilic pneumonia * Respiratory hypersensitivity * Allergic bronchopulmonary aspergillosis * Hamman-Rich syndrome * Idiopathic pulmonary fibrosis * Sarcoidosis * Vaping-associated pulmonary injury Obstructive / Restrictive Pneumonia/ pneumonitis By pathogen * Viral * Bacterial * Pneumococcal * Klebsiella * Atypical bacterial * Mycoplasma * Legionnaires' disease * Chlamydiae * Fungal * Pneumocystis * Parasitic * noninfectious * Chemical/Mendelson's syndrome * Aspiration/Lipid By vector/route * Community-acquired * Healthcare-associated * Hospital-acquired By distribution * Broncho- * Lobar IIP * UIP * DIP * BOOP-COP * NSIP * RB Other * Atelectasis * circulatory * Pulmonary hypertension * Pulmonary embolism * Lung abscess Pleural cavity/ mediastinum Pleural disease * Pleuritis/pleurisy * Pneumothorax/Hemopneumothorax Pleural effusion Hemothorax Hydrothorax Chylothorax Empyema/pyothorax Malignant Fibrothorax Mediastinal disease * Mediastinitis * Mediastinal emphysema Other/general * Respiratory failure * Influenza * Common cold * SARS * Coronavirus disease 2019 * Idiopathic pulmonary haemosiderosis * Pulmonary alveolar proteinosis * v * t * e Pneumonia Infectious pneumonias * Bacterial pneumonia * Viral pneumonia * Fungal pneumonia * Parasitic pneumonia * Atypical pneumonia * Community-acquired pneumonia * Healthcare-associated pneumonia * Hospital-acquired pneumonia * Ventilator-associated pneumonia * Severe acute respiratory syndrome Pneumonias caused by infectious or noninfectious agents * Aspiration pneumonia * Lipid pneumonia * Eosinophilic pneumonia * Bronchiolitis obliterans organizing pneumonia Noninfectious pneumonia * Chemical pneumonitis * Idiopathic pneumonia syndrome [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 inhibitors [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-aminobutyric 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	Lipid pneumonia	c0032298	27,660	wikipedia	https://en.wikipedia.org/wiki/Lipid_pneumonia	2021-01-18T18:36:01	{"gard": ["6394"], "mesh": ["D011017"], "umls": ["C0032298"], "icd-9": ["516.8"], "wikidata": ["Q3824458"]}
Ossifying fibromyxoid tumor SpecialtyOncology An ossifying fibromyxoid tumor is a type of myxoma. It presents in the extremities more frequently than the trunk.[1] It is derived from mesenchyme.[2] Appearance in the head and neck is rare, but has been reported.[3] Its malignancy has been characterized as "intermediate".[4] ## References[edit] 1. ^ Makhson AN, Bulycheva IV, Kuz'min IV, Denisov AK, Groshev IA (2006). "[Ossifying fibromyxoid tumor]". Arkh. Patol. (in Russian). 68 (2): 41–4. PMID 16752509. 2. ^ Seykora JT, Kutcher C, van de Rijn M, Dzubow L, Junkins-Hopkins J, Ioffreda M (2006). "Ossifying fibromyxoid tumor of soft parts presenting as a scalp cyst". J. Cutan. Pathol. 33 (8): 569–72. doi:10.1111/j.1600-0560.2006.00444.x. PMID 16919031. 3. ^ Mollaoglu N, Tokman B, Kahraman S, Cetiner S, Yucetas S, Uluoglu O (2006). "An unusual presentation of ossifying fibromyxoid tumor of the mandible: a case report". J Clin Pediatr Dent. 31 (2): 136–8. doi:10.17796/jcpd.31.2.f34037713m414l1u. PMID 17315811. 4. ^ Folpe AL, Weiss SW (2003). "Ossifying fibromyxoid tumor of soft parts: a clinicopathologic study of 70 cases with emphasis on atypical and malignant variants". Am. J. Surg. Pathol. 27 (4): 421–31. doi:10.1097/00000478-200304000-00001. PMID 12657926. ## External links[edit] Classification D * ICD-O: 8842/0 * v * t * e Connective/soft tissue tumors and sarcomas Not otherwise specified * Soft-tissue sarcoma * Desmoplastic small-round-cell tumor Connective tissue neoplasm Fibromatous Fibroma/fibrosarcoma: * Dermatofibrosarcoma protuberans * Desmoplastic fibroma Fibroma/fibromatosis: * Aggressive infantile fibromatosis * Aponeurotic fibroma * Collagenous fibroma * Diffuse infantile fibromatosis * Familial myxovascular fibromas * Fibroma of tendon sheath * Fibromatosis colli * Infantile digital fibromatosis * Juvenile hyaline fibromatosis * Plantar fibromatosis * Pleomorphic fibroma * Oral submucous fibrosis Histiocytoma/histiocytic sarcoma: * Benign fibrous histiocytoma * Malignant fibrous histiocytoma * Atypical fibroxanthoma * Solitary fibrous tumor Myxomatous * Myxoma/myxosarcoma * Cutaneous myxoma * Superficial acral fibromyxoma * Angiomyxoma * Ossifying fibromyxoid tumour Fibroepithelial * Brenner tumour * Fibroadenoma * Phyllodes tumor Synovial-like * Synovial sarcoma * Clear-cell sarcoma Lipomatous * Lipoma/liposarcoma * Myelolipoma * Myxoid liposarcoma * PEComa * Angiomyolipoma * Chondroid lipoma * Intradermal spindle cell lipoma * Pleomorphic lipoma * Lipoblastomatosis * Spindle cell lipoma * Hibernoma Myomatous general: * Myoma/myosarcoma smooth muscle: * Leiomyoma/leiomyosarcoma skeletal muscle: * Rhabdomyoma/rhabdomyosarcoma: Embryonal rhabdomyosarcoma * Sarcoma botryoides * Alveolar rhabdomyosarcoma * Leiomyoma * Angioleiomyoma * Angiolipoleiomyoma * Genital leiomyoma * Leiomyosarcoma * Multiple cutaneous and uterine leiomyomatosis syndrome * Multiple cutaneous leiomyoma * Neural fibrolipoma * Solitary cutaneous leiomyoma * STUMP Complex mixed and stromal * Adenomyoma * Pleomorphic adenoma * Mixed Müllerian tumor * Mesoblastic nephroma * Wilms' tumor * Malignant rhabdoid tumour * Clear-cell sarcoma of the kidney * Hepatoblastoma * Pancreatoblastoma * Carcinosarcoma Mesothelial * Mesothelioma * Adenomatoid tumor * v * t * e Development of bone Ossification * Triradiate cartilage * Limb development * Limb bud * Apical ectodermal ridge * Zone of polarizing activity * Sclerotome * Myotome * Septum transversum This article about a neoplasm 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 inhibitors [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-aminobutyric 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	Ossifying fibromyxoid tumour	c1266128	27,661	wikipedia	https://en.wikipedia.org/wiki/Ossifying_fibromyxoid_tumour	2021-01-18T18:54:47	{"wikidata": ["Q7107512"]}
For a discussion of the genetic heterogeneity of quantitative trait loci (QTL) for mean platelet volume (MPV)/platelet count (PLT), see MPVCQTL1 (612573). Mapping Mean platelet volume is a quantitative trait that has been associated with increased risk of major complications after myocardial and cerebral infarction. In a genomewide association study examining MPV in a large German population, Meisinger et al. (2009) found significant linkage to rs2138852, on chromosome 17q11.2 upstream of the TAOK1 gene (610266). The association was replicated in another another cohort from the UK and in 2 population-based samples from Germany. In the combined sample of 10,048 individuals, the association of MPV with rs2138852 reached a p value of 7.19 x 10(-28). Gieger et al. (2011) performed metaanalyses of GWAS for MPV and PLT. Their analyses included 18,600 (13 studies, MPV) and 48,666 (23 studies, PLT) individuals of European descent, respectively, and up to approximately 2.5 million genotyped or imputed SNPs. Gieger et al. (2011) identified rs8076739 in the TAOK1 gene at chromosome 17q11.2 as significantly associated with MPV in 21,652 individuals, with a p value of 4.59 x 10(-38). [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 inhibitors [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-aminobutyric 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	MEAN PLATELET VOLUME/COUNT QUANTITATIVE TRAIT LOCUS 3	c2675493	27,662	omim	https://www.omim.org/entry/612575	2019-09-22T16:01:08	{"omim": ["612575"]}
A number sign (#) is used with this entry because of evidence that mitochondrial complex I deficiency nuclear type 29 (MC1DN29) is caused by homozygous or compound heterozygous mutation in the TMEM126B gene (615533) on chromosome 11q14. For a discussion of genetic heterogeneity of mitochondrial complex I deficiency, see 252010. Clinical Features Sanchez-Caballero et al. (2016) reported 3 unrelated patients of European descent with complex I deficiency. The patients presented with exercise intolerance, easy fatigue, and myalgias beginning in childhood or adulthood, and associated with mild muscle weakness and increased levels of lactate and alanine. Muscle samples showed isolated complex I deficiency; electron microscopy of 1 patient's muscle biopsy showed swollen mitochondria surrounded by lipid droplets and containing crystalline inclusions. Biochemical studies of patient fibroblasts showed defective assembly of complex I, which could be rescued by wildtype TMEM126B. Alston et al. (2016) reported 6 patients from 4 unrelated families with complex I deficiency. Five patients from 3 families had a similar phenotype, characterized by childhood or adolescent onset of exercise intolerance, often associated with muscle weakness or myalgias. Two brothers in their late thirties or early forties were wheelchair-bound due to muscle weakness affecting the lower limbs. None of the patients had neurologic signs or cardiac involvement, although a 40-year-old man had mild left ventricular hypertrophy in his twenties and mild visual impairment. The sixth patient, a girl born of unrelated Polish parents, had a more severe phenotype with congenital heart malformations, including patent ductus arteriosus and atrial septal defect. She presented at age 2 months with failure to thrive, progressive hypertrophic cardiomyopathy, cardiac arrest, and severe renal tubular acidosis causing protracted renal failure. At age 6 years, she had normal psychomotor development, but poor overall growth, anemia, and chronic renal failure. Muscle biopsies from all patients showed subsarcolemmal accumulation of mitochondria, suggesting mitochondrial proliferation, and ragged-red fibers. Molecular Genetics Sanchez-Caballero et al. (2016) reported 3 unrelated patients of European descent with complex I deficiency due to biallelic mutations in the TMEM126B gene (615533.0001-615533.0003). Alston et al. (2016) reported 6 patients from 4 unrelated families with complex I deficiency due to biallelic mutations in the TMEM126B gene (615533.0001; 615533.0004). Haplotype analysis showed a founder effect for the 2 mutations identified in this group of patients, all of European origin. The mutations segregated with the disorder in all families. INHERITANCE \- Autosomal recessive GROWTH Other \- Failure to thrive (patient A) \- Poor overall growth (patient A) CARDIOVASCULAR Heart \- Congenital heart defects (patient A) \- Hypertrophic cardiomyopathy (patient A) GENITOURINARY Kidneys \- Chronic renal failure (patient A) MUSCLE, SOFT TISSUES \- Exercise intolerance \- Easy fatigability \- Muscle weakness \- Myalgia \- Muscle weakness affecting the lower limbs \- Walking difficulties \- Muscle biopsy shows mitochondrial abnormalities LABORATORY ABNORMALITIES \- Increased serum lactate \- Increased serum alanine \- Mitochondrial complex I deficiency in various tissues MISCELLANEOUS \- Onset of exercise intolerance in childhood or adolescence \- Patient A had a more severe phenotype with earlier onset MOLECULAR BASIS \- Caused by mutation in the transmembrane protein 126B gene (TMEM126B, 615533.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 29	c2936907	27,663	omim	https://www.omim.org/entry/618250	2019-09-22T15:42:49	{"mesh": ["C537475"], "omim": ["618250"], "orphanet": ["2609"]}
Membranoproliferative glomerulonephritis Other namesMesangiocapillary glomerulonephritis[1] Micrograph of glomerulus in membranoproliferative glomerulonephritis with increased mesangial matrix and increased mesangial cellularity. Kidney biopsy. PAS stain. SpecialtyNephrology Membranoproliferative glomerulonephritis (MPGN) is a type of glomerulonephritis caused by deposits in the kidney glomerular mesangium and basement membrane (GBM) thickening,[2] activating complement and damaging the glomeruli. MPGN accounts for approximately 4% of primary renal causes of nephrotic syndrome in children and 7% in adults.[3] It should not be confused with membranous glomerulonephritis, a condition in which the basement membrane is thickened, but the mesangium is not. ## Contents * 1 Type * 1.1 Type I * 1.2 Type II * 1.3 Type III * 2 Pathology * 3 Diagnosis * 4 Treatment * 5 References * 6 External links ## Type[edit] There are three types of MPGN, but this classification is becoming obsolete as the causes of this pattern are becoming understood. ### Type I[edit] Type I, the most common by far, is caused by immune complexes depositing in the kidney. It is characterised by subendothelial and mesangial immune deposits. It is believed to be associated with the classical complement pathway.[4] ### Type II[edit] See also: Eculizumab § Dense-deposit disease (DDD) Also called recently as ‘C3 nephropathy’ The preferred name is "dense deposit disease."[5] Most cases of dense deposit disease do not show a membranoproliferative pattern.[6] A 2012 review considers DDD to be in a continuum with C3 glomerulonephritis,[7] one reason the use of the type I to type III classification system is falling out of favour.[citation needed] Most cases are associated with the dysregulation of the alternative complement pathway.[8][9] DDD is associated with deposition of complement C3 within the glomeruli with little or no staining for immunoglobulin. The presence of C3 without significant immunoglobulin suggested to early investigators that DDD was due to abnormal activation of the complement alternative pathway (AP). There is now strong evidence that DDD is caused by uncontrolled AP activation.[10] Spontaneous remissions of MPGN II are rare; approximately half of those affected with MPGN II will progress to end stage renal disease within ten years.[11] In many cases, people with MPGN II can develop drusen caused by deposits within Bruch's membrane beneath the retinal pigment epithelium of the eye. Over time, vision can deteriorate, and subretinal neovascular membranes, macular detachment, and central serous retinopathy can develop.[12] ### Type III[edit] Type III is very rare, it is characterized by a mixture of subepithelial and subendothelial immune and/or complement deposits. These deposits elicit an immune response, causing damage to cells and structures within their vicinity. Has similar pathological findings of Type I disease.[13] A candidate gene has been identified on chromosome 1.[14] Complement component 3 is seen under immunofluorescence.[15] it is associated with complement receptor 6 deficiency. ## Pathology[edit] Renal corpuscle. Membranoproliferative glomerulonephritis involves deposits at the intraglomerular mesangium which leads to "splitting" of the glomerular basement membrane. Membranoproliferative glomerulonephritis involves deposits at the intraglomerular mesangium. It is also the main hepatitis C associated nephropathy. It also is related to a number of autoimmune diseases, prominently systemic lupus erythematosus (SLE). Also found with Sjögren syndrome, rheumatoid arthritis, inherited complement deficiencies (esp C2 deficiency), scleroderma, Celiac disease.[16] The histomorphologic differential diagnosis includes transplant glomerulopathy and thrombotic microangiopathies. ## Diagnosis[edit] The GBM is rebuilt on top of the deposits, causing a "tram tracking" appearance under the microscope.[17] Mesangial cellularity is increased.[18] ## Treatment[edit] Primary MPGN is treated with steroids, plasma exchange and other immunosuppressive drugs. Secondary MPGN is treated by treating the associated infection, autoimmune disease or neoplasms. Pegylated interferon and ribavirin are useful in reducing viral load. [19] ## References[edit] 1. ^ Colville D, Guymer R, Sinclair RA, Savige J (August 2003). "Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type II ("dense deposit disease")". Am. J. Kidney Dis. 42 (2): E2–5. doi:10.1016/S0272-6386(03)00665-6. PMID 12900843. 2. ^ "membranoproliferative glomerulonephritis" at Dorland's Medical Dictionary 3. ^ Habib R, Gubler MC, Loirat C, Mäiz HB, Levy M (1975). "Dense deposit disease: a variant of membranoproliferative glomerulonephritis". Kidney Int. 7 (4): 204–15. doi:10.1038/ki.1975.32. PMID 1095806. 4. ^ West CD, McAdams AJ (March 1998). "Glomerular paramesangial deposits: association with hypocomplementemia in membranoproliferative glomerulonephritis types I and III". Am. J. Kidney Dis. 31 (3): 427–34. doi:10.1053/ajkd.1998.v31.pm9506679. PMID 9506679. 5. ^ "Final Diagnosis — Case 148". Retrieved 2008-11-25. 6. ^ Patrick D Walker; Franco Ferrario; Kensuke Joh; Stephen M Bonsib (2007). "Dense deposit disease is not a membranoproliferative glomerulonephritis". Modern Pathology. 20 (6): 605–616. doi:10.1038/modpathol.3800773. PMID 17396142. 7. ^ Sethi S, Fervenza FC (2012). "Membranoproliferative glomerulonephritis - a new look at an old entity". N Engl J Med. 366 (12): 1119–1131. doi:10.1056/NEJMra1108178. PMID 22435371. 8. ^ Rose KL, Paixao-Cavalcante D, Fish J, et al. (February 2008). "Factor I is required for the development of membranoproliferative glomerulonephritis in factor H-deficient mice". J. Clin. Invest. 118 (2): 608–18. doi:10.1172/JCI32525. PMC 2200299. PMID 18202746. 9. ^ Licht C, Schlötzer-Schrehardt U, Kirschfink M, Zipfel PF, Hoppe B (January 2007). "MPGN II--genetically determined by defective complement regulation?". Pediatr. Nephrol. 22 (1): 2–9. doi:10.1007/s00467-006-0299-8. PMID 17024390. S2CID 14776253. 10. ^ (reviewed in Appel et al., 2005; Smith et al., 2007). Smith, R. J. ., Harris, C. L., & Pickering, M. C. (2011). Dense Deposit Disease. Molecular Immunology, 48(14), 1604–1610. http://doi.org/10.1016/j.molimm.2011.04.005/ 11. ^ Swainson CP, Robson JS, Thomson D, MacDonald MK (1983). "Mesangiocapillary glomerulonephritis: a long-term study of 40 cases". J. Pathol. 141 (4): 449–68. doi:10.1002/path.1711410404. PMID 6363655. 12. ^ Colville D, Guymer R, Sinclair RA, Savige J (2003). "Visual impairment caused by retinal abnormalities in mesangiocapillary (membranoproliferative) glomerulonephritis type II ("dense deposit disease")". Am. J. Kidney Dis. 42 (2): E2–5. doi:10.1016/S0272-6386(03)00665-6. PMID 12900843. 13. ^ Pickering, M. C., D’Agati, V. D., Nester, C. M., Smith, R. J., Haas, M., Appel, G. B., … Cook, H. T. (2013). C3 glomerulopathy: consensus report. Kidney International, 84(6), 1079–1089. http://doi.org/10.1038/ki.2013.377 14. ^ Neary JJ, Conlon PJ, Croke D, et al. (August 2002). "Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1". J. Am. Soc. Nephrol. 13 (8): 2052–7. doi:10.1097/01.ASN.0000022006.49966.F8. PMID 12138136. 15. ^ Neary J, Dorman A, Campbell E, Keogan M, Conlon P (July 2002). "Familial membranoproliferative glomerulonephritis type III". Am. J. Kidney Dis. 40 (1): e1.1–e1.6. doi:10.1053/ajkd.2002.33932. PMID 12087587. 16. ^ https://www.uptodate.com/contents/clinical-presentation-classification-and-causes-of-membranoproliferative-glomerulonephritis#H455985652 17. ^ "Membranoproliferative_glomerulonephritis_type_I of the Kidney". Archived from the original on 2006-09-10. Retrieved 2008-11-25. 18. ^ "Renal Pathology". Retrieved 2008-11-25. 19. ^ Harrison's principles of internal medicine (19th ed.). New York, NY: McGraw-Hill Companies, Inc. 2015. p. 1841. ISBN 978-0-07-180216-1. ## External links[edit] Classification D * ICD-10: N00-N08 with .5 and .6 suffix * ICD-9-CM: 581.2, 582.2, 583.2 * OMIM: 609814 305800 * MeSH: D015432 * DiseasesDB: 34457 External resources * MedlinePlus: 000475 * eMedicine: med/887 * GeneReviews: Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II * Glomerulonephritis, Membranoproliferative Types I, II, III at eMedicine * Corchado, Johnny Cruz, Smith, Richard JH (July 2007). "Dense Deposit Disease/Membranoproliferative Glomerulonephritis Type II". In Pagon RA, Bird TD, Dolan CR, et al. (eds.). GeneReviews. Seattle WA: University of Washington. PMID 20301598. * Membranoproliferative_GN at Nephropathology tutorial * MP GN Pathophysiology discusses the nephritic auto-antibodies/factors * v * t * e Disease of the kidney glomerules Primarily nephrotic Non-proliferative * Minimal change * Focal segmental * Membranous Proliferative * Mesangial proliferative * Endocapillary proliferative * Membranoproliferative/mesangiocapillary By condition * Diabetic * Amyloidosis Primarily nephritic, RPG Type I RPG/Type II hypersensitivity * Goodpasture syndrome Type II RPG/Type III hypersensitivity * Post-streptococcal * Lupus * diffuse proliferative * IgA Type III RPG/Pauci-immune * Granulomatosis with polyangiitis * Microscopic polyangiitis * Eosinophilic granulomatosis with polyangiitis General * glomerulonephritis * glomerulonephrosis [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 inhibitors [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-aminobutyric 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	Membranoproliferative glomerulonephritis	c0017662	27,664	wikipedia	https://en.wikipedia.org/wiki/Membranoproliferative_glomerulonephritis	2021-01-18T19:10:16	{"gard": ["11982"], "mesh": ["D015432"], "umls": ["C0017662"], "icd-9": ["583.2", "582.2", "581.2"], "icd-10": ["N00", "N08"], "orphanet": ["93571"], "wikidata": ["Q2299379"]}
A number sign (#) is used with this entry because of evidence that lethal congenital contracture syndrome-2 (LCCS2) can be caused by homozygous mutation in the ERBB3 gene (190151) on chromosome 12q13. One such family has been reported. For a general phenotypic description and a discussion of genetic heterogeneity of LCCS, see LCCS1 (253310). Clinical Features LCCS is a well-defined autosomal recessive disorder originally described in Finnish families (see 253310). The diagnostic criteria of LCCS are early fetal hydrops and akinesia, the Pena-Shokeir phenotype (208150), specific neuropathology with degeneration of anterior horn neurons, and extreme skeletal muscle atrophy. Landau et al. (2003) described an extended inbred Israeli-Bedouin pedigree with congenital contractures and additional unique phenotypic abnormalities, suggesting it represents a novel variant of autosomal recessive LCCS. Features distinguishing the novel disorder, LCCS2, from the Finnish type of LCCS included additional craniofacial/ocular findings, lack of hydrops, multiple pterygia, and fractures, as well as a normal duration of pregnancy. The major unique and previously undescribed clinical feature in the Israeli Bedouin disorder was markedly distended urinary bladder; other urinary abnormalities were also noted. Most of the infants with LCCS2 died shortly after birth. Sonographic prenatal diagnosis was possible as early as 15 weeks gestation by demonstration of fetal akinesia, limb contractures, hydramnios, and distended urinary bladder. Two girls, aged 12 and 13 years, were still alive at the time of the report. In addition to arthrogryposis and muscle atrophy, they both had left facial palsy, severe ophthalmologic problems with high myopia, and degenerative vitreoretinopathy. One had left hydronephrosis without urinary bladder abnormality, and the other presented no urinary problem. Both had normal cognitive development. Mapping By genomewide homozygosity mapping in the Israeli Bedouin kindred with LCCS2, Narkis et al. (2004) mapped the disease locus to a 6.4-Mb region on chromosome 12q13 between markers D12S325 and D12S1072. Maximum lod scores of 10.56 and 9.23 were obtained at D12S1604 and D12S1700, respectively. ### Exclusion Studies In the Israeli Bedouin kindred with LCCS2, Landau et al. (2003) excluded linkage to chromosomes 5q and 9q34, where spinal muscular atrophy I (SMA1; 253300) and the Finnish form of LCCS map, respectively. Molecular Genetics In an attempt to identify the specific molecular defect leading to the LCCS2 phenotype, Narkis et al. (2007) sequenced 61 of the 162 genes in the linkage interval on 12q, but found no mutations. Because a similar form of autosomal recessive lethal congenital contractural syndrome (LCCS3; 611369) is caused by a mutation in the PIP5K1C gene (606102), which encodes phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIKI-gamma), Narkis et al. (2007) sequenced 2 genes within the LCCS2 locus on the basis of their association with the phosphatidylinositol pathway. They found a homozygous mutation in the ERBB3 gene (190151.0001) in affected members of a large kindred and in an isolated case. INHERITANCE \- Autosomal recessive HEAD & NECK Face \- Micrognathia \- Hemifacial palsy Eyes \- High myopia \- Degenerative vitreoretinopathy CARDIOVASCULAR Heart \- Ventricular septal defect (in some patients) \- Dilated cardiomyopathy (in some patients) RESPIRATORY \- Respiratory insufficiency \- Respiratory failure in infancy Lung \- Normal lung histology GENITOURINARY Kidneys \- Hydronephrosis \- Cystic changes in the kidney Bladder \- Distended urinary bladder SKELETAL \- Arthrogryposis NEUROLOGIC Central Nervous System \- Neurogenic muscle atrophy, especially in the lower limbs \- Anterior horn atrophy \- Spinal cord glial hyperplasia PRENATAL MANIFESTATIONS Movement \- Decreased fetal movement \- Akinesia Amniotic Fluid \- Polyhydramnios \- No fetal hydrops MISCELLANEOUS \- Most affected infants die shortly after birth from respiratory failure MOLECULAR BASIS \- Caused by mutation in the transformation gene ERBB-3 (ERBB3, 190151.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	LETHAL CONGENITAL CONTRACTURE SYNDROME 2	c1843478	27,665	omim	https://www.omim.org/entry/607598	2019-09-22T16:09:00	{"doid": ["0060560"], "mesh": ["C564369"], "omim": ["607598"], "orphanet": ["137776"], "synonyms": ["Alternative titles", "MULTIPLE CONTRACTURE SYNDROME, ISRAELI BEDOUIN TYPE A"]}
A number sign (#) is used with this entry because of evidence that CLAPO syndrome is caused by somatic mutation of the PIK3CA (171834) gene on chromosome 3q26. Clinical Features Lopez-Gutierrez and Lapunzina (2008) described 6 unrelated patients with an apparently distinct syndrome of capillary malformation of the lower lip, lymphatic malformation of the face and neck, asymmetry of the face and limbs, and partial/generalized overgrowth. No internal or visceral abnormalities were observed. Development and mental status were normal in all patients. The parents and sibs of the patients were normal. Rodriguez-Laguna et al. (2018) collected longitudinal data on 13 patients with CLAPO, including the 6 originally studied by Lopez-Gutierrez and Lapunzina (2008), for a total of 70.5 person-years. The mean age at diagnosis was 8.0 years. None of the patients exhibited any psychomotor delay or intellectual deficit. Among these 13 patients, the only only common clinical manifestation was the capillary malformation of the lower lip, which was present in 100%. The capillary malformation of the lower lip was always present in the midline, with a symmetrical distribution, ranging from 2 to 11 cm, with well-defined borders in several patients, and often affecting the portion of the skin under the lip or the intraoral mucosa. The second major clinical feature was the presence of lymphatic malformations, observed in 12 of 13 patients (92%). In 10 patients the lymphatic malformation involved the lip, oral mucosa, neck, and tongue, seen in 5 of 10 with right sided predominance. Another 2 patients had unilateral lymphatic malformations on the lower limbs, one of which was associated with lymphedema. At birth, the tongue had a symmetrical midline combined capillary/lymphatic/venous malformation in 8 of 13 patients with CLAPO, which was mild, well-defined, and affected the tip of the tongue. In 5 of 8 patients, the tongue lesions evolved over time, causing growth of the affected area and severe hemorrhagic events with episodes of acute inflammation. In one patient, a left thigh lymphatic malformation was not noted until 15 years of age. Asymmetry was present in 8 of 13 patients and reflected a direct consequence of the presence of a lymphatic malformation on the face and neck, although in 3 patients there was a true asymmetric overgrowth in the presence of bony hypertrophy. One patient manifested asymmetry due to left limb undergrowth. Another had macrodactyly and overgrowth of the right side of the body, and a third patient had a postnatal increase in the length of the left leg. One patient had a large presacral ganglioneuroma that required resection, and another had severe failure to thrive requiring gastrostomy. Inheritance Lopez-Gutierrez and Lapunzina (2008) considered somatic mosaicism a theoretical possibility due to patchy vascular markings of the skin and asymmetric overgrowth. Molecular Genetics Rodriguez-Laguna et al. (2018) screened 20 paired blood and tissue DNA samples from 9 patients of a cohort of 13 patients with CLAPO and identified 5 activating mutations in the PIK3CA gene in affected tissues from 6 of the 9 patients studied. The 13 patients included the 6 patients reported by Lopez-Gutierrez and Lapunzina (2008). All mutations except 1 (F83S; 171834.0023) had been previously reported in a vascular/overgrowth disorder. INHERITANCE \- Somatic mutation GROWTH Other \- Asymmetric overgrowth (in some patients) HEAD & NECK Mouth \- Capillary malformation of the lower lip (found in all patients) \- Lymphatic malformation of the tongue CARDIOVASCULAR Vascular \- Varicose veins \- Venous malformations SKELETAL Hands \- Macrodactyly MUSCLE, SOFT TISSUES \- Lymphatic malformations (lip, oral mucosa, neck and tongue) \- Lymphedema MOLECULAR BASIS \- Caused by somatic mutation in the phosphatidylinositol 3-kinase, catalytic, alpha polypeptide gene (PIK3CA, 171834.0002 ) ▲ 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 inhibitors [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-aminobutyric 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	CAPILLARY MALFORMATION OF THE LOWER LIP, LYMPHATIC MALFORMATION OF FACE AND NECK, ASYMMETRY OF FACE AND LIMBS, AND PARTIAL/GENERALIZED OVERGROWTH	c2751313	27,666	omim	https://www.omim.org/entry/613089	2019-09-22T15:59:42	{"mesh": ["C567763"], "omim": ["613089"], "orphanet": ["168984"], "synonyms": ["CLAPO", "Alternative titles", "LOPEZ-GUTIERREZ SYNDROME"]}
Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss. ## Epidemiology Fewer than 100 cases have been reported in the literature. ## Clinical description The clinical presentation is highly variable even within the same family, ranging from mild skeletal manifestations to multisystem organ involvement. Cardiac malformations (ventricular septal defect, aortic stenosis), developmental delay, cranial nerve palsies, anal malformations, cataracts and nervous system malformations are frequent. Vertebral anomalies (scoliosis, spondylolisthesis), anomalies of extremities (clubfoot, unusually long and thin fingers with clinodactyly of distal phalanges), hypertelorism, frontal bossing, broad nasal bridge, prominent occipital bony protrusion and mild intellectual impairment have also been documented. In rare cases, OS-CS has been reported in association with Hirschsprung disease, Pierre Robin sequence, coronal craniostenosis, hydrocephalus and laryngotracheomalacia (see these terms). ## Etiology OS-CS is associated with mutations in the Wilms tumour gene on the X chromosome (WTX), a repressor of WNT signaling (beta-catenin pathway implicated in control of target genes in the nucleus). ## Diagnostic methods Diagnosis is based on clinical and radiological examination, which reveals cranial sclerosis, longitudinal striations in the widened metaphyses of the long bones, and sclerosis of the ribs. Genetic testing is available to confirm the diagnosis. ## Differential diagnosis Differential diagnosis includes a large number of conditions with primary or secondary bone sclerosis. As the macrocephaly seems to be an early and constant clinical feature, OS-CS should be considered in the differential diagnosis of fetuses/infants with unexplained macrocephaly. ## Antenatal diagnosis In the most severe cases, the disorder can be diagnosed prenatally by detection of increased biparietal diameter of the fetal head on ultrasound examination. Prenatal genetic diagnosis is available if the disease-causing mutation in the family is known. ## Genetic counseling OS-CS follows an X-linked dominant pattern of inheritance, with frequent lethality in males. ## Management and treatment Management is supportive and aims at providing multidisciplinary surveillance and symptomatic management of complications. ## Prognosis Cases with severe multiple manifestations and those associated with Hirschsprung disease, Pierre Robin sequence and coronal craniostenosis have poor 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 inhibitors [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-aminobutyric 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	Osteopathia striata-cranial sclerosis syndrome	c0432268	27,667	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2780	2021-01-23T17:52:14	{"gard": ["4148"], "mesh": ["C536053"], "omim": ["300373"], "umls": ["C0432268"], "icd-10": ["Q78.8"], "synonyms": ["Hyperostosis generalisata with striations", "Robinow-Unger syndrome"]}
Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia. [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 inhibitors [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-aminobutyric 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	Stapes ankylosis with broad thumbs and toes	c1866656	27,668	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140917	2021-01-23T17:42:18	{"mesh": ["C536943"], "omim": ["184460"], "umls": ["C1866656"], "icd-10": ["Q87.8"], "synonyms": ["Teunissen-Cremers syndrome"]}
A number sign (#) is used with this entry because pyruvate dehydrogenase E3-binding protein deficiency is caused by homozygous or compound heterozygous mutation in the PDHX gene (608769) on chromosome 11p13. For a general phenotypic description and a discussion of genetic heterogeneity of pyruvate dehydrogenase deficiency, see 312170. Clinical Features Robinson et al. (1990) described 2 patients who had decreased activity of the pyruvate dehydrogenase (PDH) complex without observable reduction in the activities of enzymes E1 (300502/179060), E2 (608770), or E3 (238331). Western blot analysis showed that 1 patient appeared to be missing the component X protein, while the other had 2 distinct bands. The first patient, a male, was born of first-cousin parents and had a presumably identically affected older brother. Clinical features included hypotonia and severe psychomotor retardation. Blood ammonia, alanine, and pyruvate were slightly elevated, and blood lactate varied between 5.9 and 9.1 mM. The second patient was born to nonconsanguineous Japanese parents. Clinical impairment was relatively subtle; unsteady gait and difficulty running was first noted at age 3 years, and poor fine motor and gross motor coordination at age 5. Blood lactate and pyruvate were increased on numerous occasions. Computed tomography scanning at age 5.5 years showed bilateral basal ganglia lucencies and symmetrical lacunae in the area of the putamen. Because of the parental consanguinity, the authors suggested autosomal recessive inheritance. Marsac et al. (1993) described 2 affected brothers, the offspring of first-cousin parents of Portuguese origin. Both were well at first, but progressive neurologic symptoms subsequently developed. The neurologic deterioration was consistent with Leigh syndrome (256000) in the older brother; he was very hypotonic with bilateral optic atrophy at the age of 5 years, and he died of respiratory insufficiency at the age of 6 years. The younger brother was less severely affected. Between the ages of 3 and 6 years, he was hospitalized because of developmental retardation. He walked at 8 years, developed spastic diplegia with ataxia at 11 years, and died suddenly of cardiopulmonary arrest at age 16 years after an infection with severe lactic acidosis and coma. The activity of the PDH complex was reduced to 10 to 20% of normal values in both cultured skin fibroblasts and skeletal muscle. Immunoblotting of skin fibroblast mitochondrial extracts showed a specific deficiency in the protein X component of the PDH complex but normal E1, E2, and E3 components. Geoffroy et al. (1996) reported the clinical presentation, enzymatic analysis, and Western immunoblot analysis in a newborn girl with lactic acidemia as a result of a primary defect in the X component of the PDH complex. De Meirleir et al. (1998) reported the fourth family in which an abnormal protein X was found. The proband had severe lactic acidosis and developmental delay. Immunochemical analysis with antibodies against the PDH complex demonstrated absence of component X protein. At birth, the infant was noted to be dysmorphic with trigonocephaly, a frontal metopic ridge, and a supranasal lipoma. He had hypertelorism, a thin upper lip, bilateral epicanthus and upward slant of the eyes, high palate, and pectus excavatum. He was developmentally delayed from birth, becoming severely quadriplegic and microcephalic. CT scan of the brain demonstrated partial frontal corpus callosum agenesis with dilated lateral ventricles. Brown et al. (2002) reported 2 unrelated patients with component X deficiency. The first was well until day 15, when he presented with projectile vomiting and was found to have metabolic acidosis and hemolytic anemia. Lactic acidosis continued and development was delayed. The patient was alive at age 23 years, with mild delayed development and dystonia. The second patient was well until age 10 weeks, when she began to have tonic-clonic seizures that continued throughout the first year. Development was impaired, and when assessed at age 6, she had global developmental delay with particularly poor coordination. There were no signs of regression at the age of 7.5 years. Brown et al. (2002) noted that the clinical features were similar to those found in the more common pyruvate dehydrogenase E1-alpha subunit deficiency (312170); however, both patients had significant residual E1 enzyme activity in cultured fibroblasts and prolonged survival. Dey et al. (2003) reported an affected infant born to related parents. The child had severe hypotonia, respiratory distress, and abnormal ocular movements. Brain MRI showed large subependymal cysts and a thin corpus callosum. Activity of the pyruvate dehydrogenase complex was reduced to 23% of control. She died at 35 days of age. Ramadan et al. (2004) reported 2 sisters from a family of Syrian descent and a brother and sister from a Kuwaiti family with E3-binding protein deficiency confirmed by genetic analysis. In the Syrian family, 1 child presented in the neonatal period with persistent vomiting and failure to thrive. At age 7 months, she was found to have delayed development and lactic acidosis. By age 4 years, she had a wide-based gait, generalized hypertonia, delayed mental development, and thinning of the corpus callosum on brain MRI. Her younger sister was found to have increased serum lactate at age 15 days and later showed delayed development. At age 14 months, she could stand with support and had no speech. Neither had dysmorphic features. In the Kuwaiti family, both children presented in infancy with delayed development and were found to have lactic acidosis. Brain MRI showed thin corpus callosum and cerebral atrophy; 1 had necrotic changes in the basal ganglia. Both had generalized hypotonia. One was bedridden with no speech at age 5 years; the other could understand simple commands at age 3 years and 7 months. The index patients in each family had reduced PDC activity in cultured fibroblasts and no detectable immunoreactive E3 protein. Mine et al. (2007) reported a 25-year-old man with pyruvate dehydrogenase E3-binding protein (E3BP) deficiency confirmed by genetic analysis. Clinically, the patient showed psychomotor delay associated with spastic diplegia and dysarthria at age 3 years. At 7 years, he had recurrent acute dystonic posturing, which disappeared with a ketogenic diet. Serum lactate was normal, but CSF lactate and pyruvate were increased. Brain MRI showed atrophic corpus callosum and hyperintensities in the putamen. PDH complex activity in fibroblasts and lymphocytes was 19% and 30% of normal values, respectively. Western blot analysis detected no E3BP. Ivanov et al. (2014) described the clinical manifestations of 20 patients from the Roma population in Bulgaria who were homozygous for the R446X mutation in the PDHX gene (608769.0011). Fifteen of 20 presented with lactic acidosis crisis in the first days or months of life, while 5 presented with delayed psychomotor development and/or seizures in infancy. Eight of 19 patients from whom data were available had hypoplasia or aplasia of the corpus callosum, and 5 of 19 had periventricular cysts. Four developed ventricular dilatation. Patients developed severe growth restriction with microcephaly. IQ was less than 30 for the vast majority. Most had spastic diplegia and quadriparesis, and 1 patient manifested axial hypotonia. The majority developed seizures in the neonatal period or later in infancy. Diagnosis ### Prenatal Diagnosis Rouillac et al. (1999) described the results of the first prenatal diagnosis based on the PDX1 gene. The heterozygous mother of an affected child reported by Geoffroy et al. (1996) in whom a large homozygous deletion (78del85; 608769.0001) in the PDX1 gene was found by Aral et al. (1997), requested prenatal diagnosis during a subsequent pregnancy. The fetus was found to be heterozygous for the deletion, and had inherited the mother's normal allele. Molecular Genetics In 4 patients with neonatal lactic acidemia and component X deficiency, Aral et al. (1997) identified 2 different homozygous mutations in the PDHX gene (608769.0001 and 608769.0002). One other patient had no PDHX mRNA expression. In 2 unrelated patients with pyruvate dehydrogenase E3-binding protein deficiency, Brown et al. (2002) identified mutations in the PDHX gene (608769.0004 and 608769.0005). In a 25-year-old man with pyruvate dehydrogenase E3-binding protein deficiency, Mine et al. (2007) identified compound heterozygosity for 2 mutations in the PDHX gene (608769.0007 and 608769.0008). One of the mutations was a large deletion resulting from a retrotranspositional insertion of a full-length LINE-1 element, a novel mechanism causing human genetic disease. Najmabadi et al. (2011) performed homozygosity mapping followed by exon enrichment and next-generation sequencing in 136 consanguineous families (over 90% Iranian and less than 10% Turkish or Arabic) segregating syndromic or nonsyndromic forms of autosomal recessive intellectual disability. In family 8500234, in which the parents were first cousins, they found that all 3 children with intellectual disability, microcephaly, and ataxia had a homozygous mutation in the PDHX gene (608769.0010). The parents had 1 unaffected child. INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Trigonocephaly \- Frontal metopic ridge \- Microcephaly Eyes \- Optic atrophy \- Hypertelorism \- Epicanthal folds \- Abnormal ocular movements Mouth \- High palate CHEST Ribs Sternum Clavicles & Scapulae \- Pectus excavatum (1 patient) NEUROLOGIC Central Nervous System \- Hypotonia, neonatal \- Developmental delay \- Psychomotor delay \- Pyramidal hypertonia \- Spastic paraplegia \- Spastic quadriplegia \- Ataxia \- Unsteady gait \- Poor fine and gross motor coordination \- Dystonia \- Seizures \- Mental retardation \- Basal ganglia lucencies \- Subependymal cysts \- Corpus callosum agenesis, partial METABOLIC FEATURES \- Lactic acidosis \- Metabolic acidosis LABORATORY ABNORMALITIES \- Lacticacidemia \- Increased serum pyruvate \- Increased serum alanine \- Decreased activity of the pyruvate dehydrogenase (PDH) complex \- Decreased levels of component X protein of the PDH complex MISCELLANEOUS \- Onset at birth or in early childhood \- Variable severity \- Phenotypic similarities to Leigh syndrome ( 256000 ) \- Patients may or may not have dysmorphic features MOLECULAR BASIS \- Caused by mutation in the component X gene of the pyruvate dehydrogenase complex (PDHX, 608769.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	PYRUVATE DEHYDROGENASE E3-BINDING PROTEIN DEFICIENCY	c1855553	27,669	omim	https://www.omim.org/entry/245349	2019-09-22T16:26:03	{"doid": ["3649"], "mesh": ["C565447"], "omim": ["245349"], "orphanet": ["255182", "765"], "synonyms": ["Alternative titles", "LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX"]}
PFAPA (Periodic fever - aphthous stomatitis- pharyngitis - adenopathy) syndrome is an auto inflammatory syndrome characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. ## Epidemiology Prevalence of PFAPA is unknown, over 500 cases have been reported and patients are predominantly male (>60%). ## Clinical description PFAPA usually presents during early childhood (<5 years old) with recurrent episodes of fever (>39°C) lasting 3-7 days, during which children appear very ill. Aphthous stomatitis is characterized by relatively painless small, round and shallow lesions on the tongue and oral mucosa (70% of cases) that recover completely in 10-14 days. Most patients present with tonsillitis, occasionally with white exudates (mimicking streptococci infection), and a general pharyngitis (75% of cases) with diffuse hyperemia of the entire palate. Swelling of upper cervical lymph nodes appears in >75% of cases. Abdominal pain has also been reported in many cases (65%) and generally correlates with mesenteric adenopathy. Other reported features include chills, headache, vomiting, diarrhea, hepatosplenomegaly and joint pain. Episodes recur every 3-5 weeks, often in a predictable fashion with patients describing a mild malaise the day before recurrence. Patients are in good health between episodes and generally develop normally, but leg pain and chronic fatigue are often reported. ## Etiology PFAPA is an idiopathic inflammatory condition. Elevated levels of IL-2, TNF-alpha, decreased levels of IL-10 and a significant over expression of IL-1-related (IL-1B, IL-1RN, CASP1, IL18RAP), and IFN-induced (AIM2, IP-10/CXCL10) genes are noted during the episodes. ## Diagnostic methods PFAPA is a diagnosis of exclusion based on clinical manifestations. The regularity of acute episodes during the active phase of the disease is an important clue. Marked leukocytosis and elevated CRP levels are observed in blood samples collected during acute episodes. Oral culture swabs are negative for infection, and patients fail to respond to antipyretic or antibiotic treatment. ## Differential diagnosis Differential diagnosis includes other diseases characterized by periodic fever such as recurrent tonsillitis, streptococcal infection, juvenile idiopathic arthritis, Behçet's disease, cyclic neutropenia, familial Mediterranean fever, TRAPS syndrome, and mevalonate kinase deficiency (see these terms). ## Management and treatment PFAPA has no specific treatment. Fever does not respond to non-steroidal anti-inflammatory medications. A dose of corticosteroid (prednisone, 1-2 mg/kg, or betametasone, 0.1-0.2 mg/kg) given upon the first signs of an episode can shorten or even end the episode within hours. This treatment has, however, been reported to reduce the interval between episodes. Cimetidine and colchicine have had some success in preventing relapse through regular administration. Tonsillectomy may be considered in more severe cases with very frequent flare ups. ## Prognosis Episodes usually decrease in frequency and resolve during the patient's second decade. Tonsillectomy may cure the disease in most cases. [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 inhibitors [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-aminobutyric 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	PFAPA syndrome	c4082167	27,670	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=42642	2021-01-23T18:07:50	{"gard": ["5657"], "umls": ["C2938935"], "icd-10": ["E85.0"], "synonyms": ["Marshall syndrome with periodic fever", "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"]}
Pfeiffer et al. (1977) reported brother and sister with this combination. The brother also had congenital aortic stenosis. The ears were cup-shaped. The palpebral fissures were narrow, with epicanthal folds. INHERITANCE \- Autosomal recessive GROWTH Height \- Short stature HEAD & NECK Ears \- Cup-shaped ears Eyes \- Narrow palpebral fissures \- Epicanthal folds Teeth \- Enamel hypoplasia CARDIOVASCULAR Heart \- Congenital aortic stenosis SKELETAL \- Progressive joint stiffness VOICE \- High-pitched voice ▲ 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 inhibitors [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-aminobutyric 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	PFEIFFER-PALM-TELLER SYNDROME	c1849929	27,671	omim	https://www.omim.org/entry/261560	2019-09-22T16:23:32	{"mesh": ["C537889"], "omim": ["261560"], "orphanet": ["2871"], "synonyms": ["Alternative titles", "PPT SYNDROME", "SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE"]}
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy. ## Epidemiology Prevalence is unknown. So far, fewer than 40 cases have been reported worldwide. ## Clinical description HSD10 disease is heterogeneous, including several clinical subtypes, and manifests by severe manifestations in males only; females are either asymptomatic or show non-progressive cognitive impairment ranging from learning difficulties to intellectual disability, as well as variable neurological abnormalities. HSD10 disease, infantile form is the classical presentation. Affected boys may show lethargy, poor feeding and evidence of mitochondrial dysfunction in the newborn period, with subsequent mild developmental delay and abnormal muscle tone. Hallmark of the disease is progressive neurodegeneration and cardiomyopathy, which usually manifests between ages 6 months and 2 years with loss of cognitive and motor skills, epilepsy, progressive visual impairment leading to blindness, and/or hearing loss. As neurodegeneration advances, patients develop progressive ataxia, choreoathetosis, and restlessness. The disease is generally fatal with death usually occurring between 2-4 years of age. Laboratory findings include lactic acidosis, hypoglycemia, hyperammonemia, and increased urinary excretion of specific organic acids. HSD10 disease, neonatal form is the most severe subtype. It is characterized by severe metabolic/lactic acidosis in the neonatal period, scarce neurological development, severe progressive cardiomyopathy and death within the first months of life. Other variants of HSD10 disease are less well defined and usually reflect attenuated forms. Affected individuals may have variable neurological and behavioral symptoms, intellectual disability which may be non-progressive, variable metabolic/non-neurological manifestations, or may be asymptomatic. ## Etiology HSD10 disease is mostly due to missense mutations in the HSD17B10 gene (Xp11.22), coding for 3-hydroxyacyl-CoA dehydrogenase type 2. This mitochondrial protein has at least dual function: (a) it is one of three proteins that constitute mitochondrial ribonuclease (RNase) P which is responsible for the cleavage of the mtDNA polycistronic transcript between mRNA and tRNA sequences; (b) the enzyme's dehydrogenase function is required for the breakdown of 2-methyl-3-hydroxybutyrate in isoleucine metabolism (MHBD) and may be active on other metabolites such as neuroactive steroids. Null mutations in the HSD17B10 gene are incompatible with life. The clinical manifestations of HSD10 disease are thought to be due to defective RNase P leading to mitochondrial dysfunction, whereas some metabolic abnormalities including the typical urinary organic acids findings are caused by impaired dehydrogenase function. ## Diagnostic methods Diagnosis is based on urinary organic acid analysis, as well as molecular studies. Elevated levels of isoleucine metabolites (in particular 3-hydroxy-2-methylbutyrate and tiglylglycine in conjunction with normal methylacetoacetate) are hallmark findings of the disease, although they reflect dehydrogenase and not RNase P dysfunction. Some individuals with HSD10 disease may show no biochemical abnormalities, whereas others with isolated dehydrogenase dysfunction may have little or no symptoms. Frequently there is biochemical or histological evidence of mitochondrial dysfunction such as rounded mitochondria with depleted cristae observed by microscopy. Diagnosis is confirmed by genetic analysis identifying a hypomorphic disease-causing mutation. ## Differential diagnosis Biochemical abnormalities may resemble beta-ketothiolase deficiency. Clinical abnormalities are similar in other disorders affecting mtDNA transcript processing, in particular ELAC2-associated disease (combined oxidative phosphorylation defect type 17). ## Antenatal diagnosis Prenatal diagnosis is possible by molecular analysis. ## Genetic counseling HSD10 disease follows an X-linked inheritance with variable manifestation in females. Genetic counseling should be proposed to at-risk families. ## Management and treatment At present, there is no effective treatment for the disease. A low-protein, high-energy dietary regimen with carnitine supplementation reduces the accumulation of isoleucine metabolites in blood and urine, but does not improve psychomotor deterioration. Due to its ability to interfere with mitochondrial energy metabolism, valproic acid should be avoided. ## Prognosis The prognosis is poor, especially for the neonatal and infantile forms of the disease. The prognosis for the attenuated or asymptomatic variants of the disease is currently 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 inhibitors [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-aminobutyric 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	HSD10 disease	c3266731	27,672	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=391417	2021-01-23T19:09:44	{"gard": ["10716"], "mesh": ["C564560"], "omim": ["300438"], "umls": ["C1845517"], "icd-10": ["E72.8"], "synonyms": ["2-methyl-3-hydroxybutyric aciduria", "2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency", "HSD10 deficiency", "MHBD deficiency"]}
Arachnodactyly Other namesAchromachia Arachnodactyly SpecialtyMedical genetics Arachnodactyly ("spider fingers") is a condition in which the fingers and toes are abnormally long and slender, in comparison to the palm of the hand and arch of the foot. Also, the individual's thumbs tend to be pulled inwards towards the palm.[1] It can be present at birth or develop in later life.[citation needed] ## Contents * 1 Causes * 2 Notable cases * 3 See also * 4 References * 5 External links ## Causes[edit] This feature can occur on its own, with no underlying health problems. However, it can also be associated with certain medical conditions. Examples include Marfan syndrome,[2] Ehlers-Danlos syndromes,[3] Loeys–Dietz syndrome, congenital contractural arachnodactyly,[1] and homocystinuria. Arachnodactyly has been linked to mutations in both fibrillin-1 and fibrillin-2 genes.[citation needed] ## Notable cases[edit] It remains unconfirmed whether composer Sergei Rachmaninoff's abnormally large reach on a piano was a result of arachnodactyly due to Marfan syndrome, as the pianist exhibited no other signs of the disease.[4] ## See also[edit] * Marfanoid ## References[edit] 1. ^ a b Viljoen, D. (1994). "Congenital contractural arachnodactyly (Beals syndrome)". Journal of Medical Genetics. 31 (8): 640–643. doi:10.1136/jmg.31.8.640. PMC 1050028. PMID 7815423. 2. ^ Buntinx, I. M.; Willems, P. J.; Spitaels, S. E.; Van Reempst, P. J.; De Paepe, A. M.; Dumon, J. E. (April 1991). "Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency". Journal of Medical Genetics. 28 (4): 267–273. doi:10.1136/jmg.28.4.267. ISSN 0022-2593. PMC 1016831. PMID 1856834. 3. ^ Keer, Rosemary; Grahame, Rodney (2003-06-27). Hypermobility syndrome: Recognition and management for physiotherapists. ISBN 978-0-7506-5390-9. 4. ^ "Forum - Search results for Rachmaninoff Marfan". Website of the Rachmaninoff Network. 7 September 2016. Retrieved 4 August 2020. ## External links[edit] Classification D * ICD-10: Q87.4 (ILDS Q87.410) * ICD-9-CM: 759.82 * MeSH: D008382 * DiseasesDB: 15196 External resources * MedlinePlus: 003288 Wikimedia Commons has media related to Arachnodactyly. * v * t * e Congenital malformations and deformations of musculoskeletal system / musculoskeletal abnormality Appendicular limb / dysmelia Arms clavicle / shoulder * Cleidocranial dysostosis * Sprengel's deformity * Wallis–Zieff–Goldblatt syndrome hand deformity * Madelung's deformity * Clinodactyly * Oligodactyly * Polydactyly Leg hip * Hip dislocation / Hip dysplasia * Upington disease * Coxa valga * Coxa vara knee * Genu valgum * Genu varum * Genu recurvatum * Discoid meniscus * Congenital patellar dislocation * Congenital knee dislocation foot deformity * varus * Club foot * Pigeon toe * valgus * Flat feet * Pes cavus * Rocker bottom foot * Hammer toe Either / both fingers and toes * Polydactyly / Syndactyly * Webbed toes * Arachnodactyly * Cenani–Lenz syndactylism * Ectrodactyly * Brachydactyly * Stub thumb reduction deficits / limb * Acheiropodia * Ectromelia * Phocomelia * Amelia * Hemimelia multiple joints * Arthrogryposis * Larsen syndrome * RAPADILINO syndrome Axial Skull and face Craniosynostosis * Scaphocephaly * Oxycephaly * Trigonocephaly Craniofacial dysostosis * Crouzon syndrome * Hypertelorism * Hallermann–Streiff syndrome * Treacher Collins syndrome other * Macrocephaly * Platybasia * Craniodiaphyseal dysplasia * Dolichocephaly * Greig cephalopolysyndactyly syndrome * Plagiocephaly * Saddle nose Vertebral column * Spinal curvature * Scoliosis * Klippel–Feil syndrome * Spondylolisthesis * Spina bifida occulta * Sacralization Thoracic skeleton ribs: * Cervical * Bifid sternum: * Pectus excavatum * Pectus carinatum This genetic disorder article is a stub. You can help Wikipedia by expanding it. * v * t * e [v]: View this template [t]: Discuss this template [e]: Edit this template [c.]: circa [AA]: Adrenergic agonist [AD]: Acetaldehyde dehydrogenase [HAART]: highly active antiretroviral therapy [Ki]: Inhibitor constant [nM]: nanomolars [MOR]: μ-opioid receptor [DOR]: δ-opioid receptor [KOR]: κ-opioid receptor [SERT]: Serotonin transporter [NET]: Norepinephrine transporter [NMDAR]: N-Methyl-D-aspartate receptor [M:D:K]: μ-receptor:δ-receptor:κ-receptor [ND]: No data [NOP]: Nociceptin receptor [BMI]: body mass index [OCD]: Obsessive-compulsive disorder [SSRIs]: Selective serotonin reuptake inhibitors [SNRIs]: Serotonin–norepinephrine reuptake inhibitors [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-aminobutyric 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	Arachnodactyly	c0003706	27,673	wikipedia	https://en.wikipedia.org/wiki/Arachnodactyly	2021-01-18T18:29:36	{"mesh": ["D054119"], "umls": ["C0003706"], "icd-9": ["759.82"], "icd-10": ["Q87.4"], "wikidata": ["Q2051565"]}
## Clinical Features Riccardi and Marcus (1978) reported a kindred in which 2 brothers and probably a maternal great-uncle had hydrocephalus, cerebellar agenesis, and absence of the foramina of Luschka and Magendie. The authors emphasized the nonspecificity of the Dandy-Walker anomaly, which the findings in this case represent. The same X-linked disorder may have been present in the 3 males in 1 family (2 brothers and maternal uncle) reported by Renier et al. (1983). Stratton and Bluestone (1991) described a family in which a male infant had features of otopalatodigital syndrome type II (OPD2; 304120) as well as hydrocephalus and cerebellar hypoplasia; 2 maternal uncles died neonatally with congenital hydrocephalus and digital abnormalities consistent with OPD II. Stratton and Bluestone (1991) suggested that the 2 entities are determined by mutations at neighboring loci on the X chromosome. Neuro \- Hydrocephaly \- Cerebellar agenesis \- Absent foramina of Luschka and Magendie 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 inhibitors [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-aminobutyric 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	HYDROCEPHALUS WITH CEREBELLAR AGENESIS	c1844005	27,674	omim	https://www.omim.org/entry/307010	2019-09-22T16:18:10	{"mesh": ["C564407"], "omim": ["307010"], "orphanet": ["1397"]}
A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-1 (CLN1) is caused by homozygous or compound heterozygous mutation in the gene encoding palmitoyl-protein thioesterase-1 (PPT1; 600722) on chromosome 1p34. Description The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The lipopigment pattern seen most often in CLN1 is referred to as granular osmiophilic deposits (GROD). The patterns most often observed in CLN2 and CLN3 are 'curvilinear' and 'fingerprint' profiles, respectively. CLN4, CLN5, CLN6, CLN7, and CLN8 show mixed combinations of granular, curvilinear, fingerprint, and rectilinear profiles. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). Zeman and Dyken (1969) referred to these conditions as the 'neuronal ceroid lipofuscinoses.' Goebel (1995) provided a comprehensive review of the NCLs and noted that they are possibly the most common group of neurodegenerative diseases in children. Mole et al. (2005) provided a detailed clinical and genetic review of the neuronal ceroid lipofuscinoses. ### Genetic Heterogeneity of Neuronal Ceroid Lipofuscinosis See also CLN2 (204500), caused by mutation in the TPP1 gene (607998) on chromosome 11p15; CLN3 (204200), caused by mutation in the CLN3 gene (607042) on 16p12; CLN4A (204300), caused by mutation in the CLN6 gene (606725) on 15q21; CLN4B (162350), caused by mutation in the DNAJC5 gene (611203) on 20q13; CLN5 (256731), caused by mutation in the CLN5 gene (608102) on 13q; CLN6 (601780), caused by mutation in the CLN6 gene (602780) on 15q21; CLN7 (610951), caused by mutation in the MFSD8 gene (611124) on 4q28; CLN8 (600143) and the Northern epilepsy variant of CLN8 (610003), caused by mutation in the CLN8 gene (607837) on 8pter; CLN10 (610127), caused by mutation in the CTSD gene (116840) on 11p15; CLN11 (614706), caused by mutation in the GRN gene (138945) on 17q; CLN13 (615362), caused by mutation in the CTSF gene (603539) on 11q13; and CLN14 (611726), caused by mutation in the KCTD7 gene (611725) on 7q11. CLN9 (609055) has not been molecularly characterized. A disorder that was formerly designated neuronal ceroid lipofuscinosis-12 (CLN12) is now considered to be a variable form of Kufor-Rakeb syndrome (KRS; 606693). Nomenclature The CLNs were originally classified broadly by age at onset: CLN1 as the infantile-onset form, or the infantile-onset Finnish form, having first been described in that population; CLN2 as the late infantile-onset form; CLN3 as the juvenile-onset form; and CLN4 as the adult-onset form. With the identification of molecular defects, however, the CLNs are now classified numerically according to the underlying gene defect. CLN1 refers to CLN caused by mutation in the PPT1 gene, regardless of the age at onset (Mole et al., 2005). Clinical Features ### Classic Infantile-Onset CLN1 Hagberg et al. (1968) described 'progressive encephalopathy' in a child of unrelated Finnish parents. The disorder was characterized by mental retardation, loss of speech, minor motor seizures, regression of motor development, and ataxia. Histologically, the brain showed total derangement of cortical cytoarchitecture, severe degeneration of white matter, and deposits of granular material suggesting free fatty acids and unsaturated fatty acids. Biochemical studies showed a disturbance of linoleic acid metabolism. Santavuori et al. (1973) and Haltia et al. (1973) characterized the distinctive clinical and morphologic features of infantile-onset CLN1, respectively. Morphologic findings included severe neuronal destruction with massive accumulations of phagocytes, often binucleated, and unusually hypertrophic fibrillary astrocytes in the cerebral cortex. The fatty acid pattern of serum lecithin showed an increase of arachidonic acid and corresponding decrease of linoleic acid. Santavuori et al. (1974) reported that infantile-onset CLN is clinically homogeneous in the Finnish population. After normal development, visual failure, speech and motor deterioration, and seizures appeared between the ages of 6 and 24 months. Most patients had no cortical activity demonstrable by EEG by age 3 years. At least 55 cases of the same abnormality were identified in Finland (Hagberg, 1974). Age at onset ranged from 8 to 18 months with rapid psychomotor deterioration, ataxia, and muscular hypotonia. Other features included microcephaly and myoclonic jerks; convulsions were less common. Affected individuals were blind by age 2 years with optic atrophy and macular and retinal changes but no pigment aggregation. Both the ERG and the EEG showed early extinction. Baumann and Markesbery (1982) stated that about 60 cases of 'Santavuori disease' had been reported. They described the first American cases: 3 cases in 2 unrelated families. A brother and sister were from Appalachian Kentucky. Features were early developmental deterioration, retinal blindness, microcephaly, and seizures. Baumann and Markesbery (1982) found characteristic inclusion material in circulating leukocytes. This material was electron microscopically identical to that in brain tissues and was apparently unique to Santavuori disease. Vanhanen et al. (1995) reviewed the MRI appearance of the brain in 21 patients with infantile neuronal ceroid lipofuscinosis and compared them to 46 neurologically normal controls. MRI abnormalities were detectable before clinical symptoms and changed with the progression of the disease. In the early stage there was generalized cerebral atrophy, thalamic hypointensity to the white matter and to the basal ganglia, and thin periventricular high-signal rims from 13 months onward on T2-weighted images. They noted a pathognomonic appearance in patients older than 4 years of age, and found that the signal intensity of the gray matter on T2-weighted images was less than that of the white matter, or reverse of the normal appearance. ### Late Infantile- and Juvenile-Onset CLN1 Becker et al. (1979) described the child of a consanguineous German couple who developed onset of mental and visual disturbances at age 3 years, followed by ataxia and myoclonic jerks. The chemical changes were those of the infantile form, but the electron microscopy of muscle and skin and the clinical course were more consistent with classically described later-onset forms of CLN (e.g., CLN2 or CLN3). Philippart et al. (1995) and Hofman and Taschner (1995) described a variant of juvenile-onset CLN in which electron microscopy demonstrated intracellular fine granular osmiophilic deposits (GROD) characteristic of the infantile subtype. Curvilinear and fingerprint bodies, characteristic of other forms of CLN were not identified. Learning disabilities began between ages 6 and 10 years, but visual failure was delayed until age 10 to 14 years. Linkage analysis of 1 family excluded markers on chromosome 16p12 associated with CLN3. Mitchison et al. (1998) reported 11 patients with juvenile-onset of CLN with GROD, including those reported by Philippart et al. (1995) and Hofman and Taschner (1995). Deterioration of intellect began between ages 7 and 13 years, deterioration of motor function between ages 7 and 15 years, deterioration of vision between ages 6 and 14 years, and onset of EEG changes and epilepsy between ages 7 and 17 years. Vacuolated lymphocytes were not detected in 11 of 16 patients. The tissues in which granular osmiophilic deposits were observed included skin, conjunctiva, rectum, and blood. Wisniewski et al. (1998) reported 5 patients from 3 unrelated families with late infantile-onset CLN1 with GROD. PPT1 activity was less than 10% of normal values, suggesting a variant form of CLN1. Das et al. (1998) found excellent correlation between absence of PPT1 activity and GROD histology among 32 unrelated individuals with CLN. All 23 patients with pure GROD and 6 (67%) of 9 patients with GROD mixed with curvilinear or fingerprint inclusions had decreased PPT1 activity. Fourteen patients had infantile onset before 24 months of age, 5 had late-infantile onset between ages 2 and 4, and 13 had juvenile onset after age 5 years. The 3 patients with normal PPT1 activity all had juvenile-onset CLN; 1 of these patients was subsequently found to have mutations in the CLN3 gene (607042). Twenty-eight patients with CLN without GROD histology all had normal PPT1 activity. The patients included the 3 probands reported by Wisniewski et al. (1998). ### Adult-onset CLN1 Van Diggelen et al. (2001) reported 2 sisters with adult-onset neuronal CLN1 confirmed by the finding of compound heterozygous mutations in the PPT1 gene (600722.0006; 600722.0009). Onset in both patients was in the thirties, with symptoms of depression progressing to cognitive decline, cerebellar ataxia, parkinsonism, and decreased verbal fluency in their fifties. Both patients showed generalized brain atrophy on MRI. Enzyme analysis showed severe PPT deficiency. Ramadan et al. (2007) reported a 24-year-old woman who presented with psychiatric features, including low mood, irritability, lack of interest, bizarre behavior, and academic decline. She deteriorated over the next 18 months, developing tunnel vision, retinitis pigmentosa, visual hallucinations, and further cognitive decline. Brain MRI showed marked generalized cerebral and cerebellar atrophy. Skin and rectal mucosal biopsies showed a storage disease with autofluorescent granular osmiophilic deposits, and biochemical studies showed decreased PPT1 activity. Genetic analysis identified compound heterozygosity for 2 mutations in the PPT1 gene (600722.0006; 600722.0010). Ramadan et al. (2007) emphasized the late onset in this patient and noted the similarities to the sisters reported by Van Diggelen et al. (2001). Mapping By linkage analysis in Finnish families with infantile-onset CLN1, Jokiaho et al. (1990) excluded linkage to chromosome 16, where the gene for Batten disease (CLN3) had been mapped. In studies of 15 Finnish families with infantile-onset CLN1, Jarvela et al. (1991) demonstrated linkage to chromosome 1p (maximum lod scores of 3.38 for D1S57, 3.56 for D1S7, and 3.56 for D1S79). Jarvela (1991) presented a map of the birthplaces of great-grandparents of 35 patients with CLN1. The wide distribution of this ancestry suggested a very old founder effect. On the basis of further linkage studies, Jarvela et al. (1991) mapped the CLN1 gene to chromosome 1p32. Hellsten et al. (1993) observed linkage disequilibrium between CLN1 and a newly discovered, highly polymorphic marker. Incorporation of the observed linkage disequilibrium into multipoint linkage analysis significantly increased the informativeness of the limited family material and facilitated refined assignment of the CLN1 locus. Hellsten et al. (1995) constructed a pulsed field gel electrophoresis (PFGE) map of 4 Mb in the region of the CLN1 gene. They established the order of several loci at 1p32 by combining data obtained from analysis of a chromosome 1 somatic cell hybrid panel, PFGE, and interphase fluorescence in situ hybridization. They found that a 1-Mb contig contained MYCL1, the HY-TM1 marker closely linked to CLN1, RLF (180610), and COL9A2 (120260). Within the contig, they identified 5 CpG islands, in addition to those associated with the earlier cloned genes. Diagnosis Voznyi et al. (1999) reported a new fluorimetric assay for PPT activity based on the fluorochrome 4-methylumbelliferone. PPT1 activity was detectable in fibroblasts, leukocytes, lymphoblasts, amniotic fluid cells, and chorionic villi, but was deficient in tissues from CLN1 patients. ### Prenatal Diagnosis De Vries et al. (1999) reported prenatal diagnosis of CLN1 by chorionic villi sampling. PPT1 activity was deficient and molecular analysis identified a homozygous mutation in the PPT1 gene (600722.0008). The pregnancy was terminated and the PPT deficiency was confirmed in cultured chorionic villi cells as well as in cultured fetal skin fibroblasts. Molecular Genetics By positional candidate gene methods, Vesa et al. (1995) identified a homozygous mutation (R122W; 600722.0001) in the PPT1 gene in patients with infantile-onset CLN1 from 40 of 42 Finnish families. The findings were consistent with a founder effect. Mitchison et al. (1998) identified homozygosity or compound heterozygosity for mutations in the PPT1 gene (600722.0002-600722.0006) in 11 patients with juvenile-onset CLN1 with the ultrastructural findings of granular osmiophilic deposits. Das et al. (1998) identified 19 different mutations in the PPT1 gene in 57 of 58 mutated alleles from 29 patient-derived cell lines. The R151X mutation (600722.0006) accounted for 40% of the alleles, and the T75P mutation (600722.0002) accounted for 13% of the alleles. Fifty percent of patients had infantile onset, 17% had late-infantile onset, and 33% had juvenile onset. Pathogenesis Kim et al. (2006) noted that apoptosis is 1 of the major causes of neurodegeneration in INCL. In a follow-up to studies in a mouse model of CLN1 that showed activation of the endoplasmic reticulum stress response (Zhang et al., 2006), Kim et al. (2006) studied signals of apoptosis in brain samples from a patient with CLN1. Brain tissue showed increased levels of mitochondrial superoxide dismutase-2 (SOD2; 147460), caspase-9 (CASP9; 602234), caspase-3 (CASP3; 600636), and cleaved PARP1 (173870) compared to control brain samples. These findings were consistent with rapid neuronal death by apoptosis. Studies of Ppt1-null mice revealed similar patterns, and studies of cultured neurospheres indicated that ER stress caused elevated levels of reactive oxygen species (ROS). Kim et al. (2006) proposed that the rapid progression of neurodegeneration in human INCL is likely to be caused by ER stress-mediated caspase-12 (CASP12; 608633) activation as well as by elevated ROS production, which stimulates SOD2 production and destabilization of calcium homeostasis. Together these abnormalities mediate activation of CASP9, CASP3, and cleavage of PARP, which is indicative of apoptosis. Population Genetics CLN1 is most common in populations of Finnish descent, with an incidence of 1:20,000 and a carrier frequency of 1 in 70 (summary by Miller et al., 2015). Animal Model Gupta et al. (2001) engineered disruptions in the Ppt1 and Ppt2 (603298) genes to create knockout mice that were deficient in either enzyme. Both lines of mice were viable and fertile; however, both lines developed spasticity (a 'clasping' phenotype) at a median age of 21 weeks and 29 weeks, respectively. Motor abnormalities progressed in the Ppt1 knockout mice, leading to death by 10 months of age. In contrast, most Ppt2 mice were alive at 12 months. Myoclonic jerking and seizures were prominent in the Ppt1 mice. Autofluorescent storage material was striking throughout the brains of both strains of mice. Neuronal loss and apoptosis were particularly prominent in Ppt1-deficient brains. These studies provided a mouse model for infantile neuronal ceroid lipofuscinosis and further suggested that PPT2 serves a role in the brain that is not carried out by PPT1. Zhang et al. (2006) reported that the brains of Ppt1-null mice accumulated autofluorescent material, abnormalities of the neuronal endoplasmic reticulum (ER), and showed progressive neuronal apoptosis that correlated with neurologic motor impairment. There was an abnormal accumulation of palmitoylated GAP43 (162060) in the ER. Increased levels of this and other S-acylated proteins coincided with activation of the unfolded protein response, characterized by increased phosphorylation of EIF2A (609234) and activation of CASP12, which ultimately leads to cellular apoptosis. Zhang et al. (2006) concluded that PPT1 deficiency leads to neurodegeneration by activation of the unfolded protein response as a result of abnormal accumulation of palmitoylated proteins. Neural communication relies on repeated cycles of exo- and endocytosis of synaptic vesicles containing neurotransmitters at the plasma membranes of nerve terminals. In the mouse brain, Kim et al. (2008) found that Ppt1 localized in the synaptosomes and synaptic vesicles of the presynaptic compartment under physiologic conditions. Ppt1 deficiency resulted in abnormal and persistent membrane retention of palmitoylated synaptic vesicle-associated proteins, including VAMP2 (185881), SNAP25 (600322), syntaxin-1 (STX1A; 186590), SYTI (185605), and GAD65 (138275) in brain tissue from both human patients with neuronal lipofuscinosis and Ppt1-deficient mice. Since these S-acylated proteins must undergo depalmitoylation to detach from the membrane, which is required for recycling, Ppt1 deficiency may cause these proteins to remain membrane bound. Kim et al. (2008) proposed a mechanism by which PPT1 deficiency leads to the disruption of synaptic vesicle recycling, prevents the regeneration of fresh vesicles, and results in a progressive decline in the total pool size, which ultimately impairs neurotransmission. Miller et al. (2015) generated a transgenic mouse model homozygous for the common R151X PPT1 mutation (600722.0006). The phenotype of the mutant mice recapitulated that observed in humans, including impaired motor function, decreased exploratory behavior, accumulation of autofluorescent material in the brain, and widespread astrogliosis and microglial activation throughout the brain. PPT1 enzyme activity in homozygous mice was 1.7 to 3.1% of controls. Administration of the read-through compound ataluren (PTC124) increased PPT1 enzyme activity and protein level in mutant mice in a proof-of-principle study. INHERITANCE \- Autosomal recessive HEAD & NECK Head \- Microcephaly, postnatal, progressive Eyes \- Vision loss, progressive \- Optic atrophy \- Retinal degeneration \- Macular degeneration \- Blindness by age 2 \- Reduced or abolished electroretinogram (ERG) SKELETAL Limbs \- Flexion contractures NEUROLOGIC Central Nervous System \- Psychomotor degeneration \- Mental retardation \- Cognitive decline in older patients \- Hypotonia \- Ataxia \- Seizures \- Spasticity \- Myoclonus \- Loss of speech \- Electroencephalogram (EEG) abnormalities \- Cerebral atrophy, progressive \- Hypointensity of the thalami early-on seen on MRI \- High signal intensity of the white matter later seen on MRI \- Autofluorescent lipopigment in neurons \- Granular material in neurons Behavioral Psychiatric Manifestations \- Irritability \- Sleep disturbances \- Hyperexcitability \- Depression \- Hallucinations LABORATORY ABNORMALITIES \- Granular osmiophilic cytoplasmic deposits (GROD) ultrastructurally in cells \- Decreased activity of PPT1 \- Fatty acid pattern of serum lecithin shows increased arachidonic acid and decreased linoleic acid MISCELLANEOUS \- Variable age at onset \- Variable severity, correlates with age at onset \- Infantile, late-infantile, juvenile, and adult onset have been reported \- Patients with adult onset present with psychiatric features \- Common in populations of Finnish descent (incidence of 1:20 000, carrier frequency of 1 in 70) MOLECULAR BASIS \- Caused by mutation in the palmitoyl-protein thioesterase 1 gene (PPT1, 600722.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	CEROID LIPOFUSCINOSIS, NEURONAL, 1	c0022340	27,675	omim	https://www.omim.org/entry/256730	2019-09-22T16:24:23	{"doid": ["0110721"], "mesh": ["D009472"], "omim": ["256730"], "orphanet": ["168491", "79262", "228329", "79264", "79263"], "synonyms": ["Alternative titles", "CEROID LIPOFUSCINOSIS, NEURONAL, 1, VARIABLE AGE AT ONSET"]}
A number sign (#) is used with this entry because of evidence that dehydrated hereditary stomatocytosis-2 (DHS2) is caused by heterozygous mutation in the KCNN4 gene (602754) on chromosome 19q13. Description In dehydrated hereditary stomatocytosis (DHS), also known as hereditary xerocytosis, red blood cells exhibit altered intracellular cation content and cellular dehydration, resulting in increased erythrocyte mean corpuscular hemoglobin concentration (MCHC) and decreased erythrocyte osmotic fragility. Blood films show various cell shape abnormalities, the most characteristic being the stomatocyte, with a straight or crescent-shaped central pallor (summary by Rapetti-Mauss et al., 2015). For discussion of clinical and genetic heterogeneity of the stomatocytoses, see DHS1 (194380). Clinical Features Glader et al. (1974) reported a mother and son with congenital hemolytic anemia due to a red blood cell permeability defect, which the authors designated 'desiccytosis.' The 21-year-old mother, of French and Irish descent, had a lifelong history of anemia, jaundice, and hepatosplenomegaly. She received multiple blood transfusions in early childhood and underwent splenectomy at age 6 years and cholecystectomy at age 13. She continued to have chronic hemolysis and intermittent episodes of exaggerated icterus, and red cell survival studies showed a half-life of only 8 days. Examination revealed scleral icterus and hepatomegaly. Her 3-year-old son also exhibited jaundice, anemia, and hepatosplenomegaly. Hematologic evaluation showed anemia, reticulocytosis, and increased mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH), and mean corpuscular hemoglobin concentration (MCHC). There were large, dehydrated-appearing red cells in which hemoglobin seemed to be puddled at the cell periphery, as well as fragmented cells and acanthocytes. Osmotic fragility was shifted to the right, with delayed onset and incomplete hemolysis at the most dilute salt concentration, compared to control. Erythrocytes of the proband and her son had increased sodium and decreased potassium content, with an overall reduction in total cation content despite active transport of sodium and potassium that was twice normal; water left the cells due to this decreased solute concentration, resulting in rigid, osmotically resistant, dehydrated erythrocytes that the authors designated 'desiccytes.' Glader et al. (1974) noted that the proband's nonsplenectomized son, with the same degree of anemia, reticulocytosis, hepatosplenomegaly, desiccytes in peripheral smear, and cation abnormality, had not required blood transfusions; thus, splenectomy did not appear to increase red blood cell survival in this disorder. Fairbanks et al. (1978) studied the membrane defect in red blood cells from a large kindred from Worcester (Massachusetts) consisting of 2 affected sisters and their affected children (8 sons). Affected individuals exhibited mild anemia and red cell dehydration (xerocytosis), associated with net cation deficiency due to excessive passive K+ efflux. The patients' dehydrated cells, or 'xerocytes,' contained depressed levels of 2,3-diphosphoglycerate (DPG) and exhibited left-shifted oxygen dissociation curves. Intracellular pH and other hematologic and metabolic parameters were normal. Fairbanks et al. (1978) analyzed the elevated retention of glyceraldehyde-3-phosphate dehydrogenase (GAPDH) in xerocyte membranes and concluded that it is determined by cytoplasmic factors. Snyder et al. (1978) provided additional analysis of red cells from the proband of the Worcester kindred, a 43-year-old woman of Italian, French, and Irish heritage with a lifelong history of anemia, jaundice, and splenomegaly, who underwent cholecystectomy at age 33. She had 4 affected sons, and an affected older sister had 4 sons, all of whom had anemia and jaundice. The authors noted that xerocyte fragments showed the same protein composition as fragments from normal red cells; their findings suggested that ATP depletion plays a role in producing fragmentation and myelin forms. Compared to cells from patients with other forms of hemolytic anemia, such as PNH (see 300818) or G6PD deficiency (300908), xerocytes showed the highest amount of fragmentation in vitro. In a further study of the Worcester kindred reported by Fairbanks et al. (1978), Fairbanks et al. (1984) noted that all affected individuals exhibited a mild chronic hemolytic anemia with reduced red cell life span (15.5 days) and reticulocyte counts ranging from 4 to 8%. The K+ content of their red cells was reduced but the Na+ content was normal, and dehydration was reflected in decreased osmotic fragility and increased MCHC. Rigorous laboratory evaluation excluded hemoglobinopathy or enzymopathy in the family. Fairbanks et al. (1984) presented evidence that passive K+ permeability in patient red cells was increased. In addition, the authors demonstrated that the chloride-dependent component of passive K+ influx did not exhibit the activation by N-ethylmaleimide (NEM) seen in normal red cells. Fairbanks et al. (1984) reported that the NEM-activated K+ influx in normal human red cells is volume-responsive, and suggested that the insensitivity of xerocytes to the thiol blocking reagent might be related to the osmoregulatory dysfunction. Rapetti-Mauss et al. (2015) reported a 4-generation French family with chronic hemolytic anemia. The proband was a boy who received transfusions in utero for severe anemia, which stabilized by 3 months of age on erythropoietin treatment. At age 4.75 years, he exhibited mild anemia and splenomegaly. His mother had chronic moderate hemolytic anemia since childhood, with regular transfusions until adolescence, and had undergone splenectomy at age 25. The mother's sister, their father, a paternal aunt, and the paternal grandmother were also affected, and 3 of them had undergone splenectomy. None of the splenectomized family members had presented thrombotic complications. Rapetti-Mauss et al. (2015) also described a 3-generation family of Polish origin, in which the proband was a 25-year-old woman with chronic moderate hemolytic anemia since childhood and underwent cholecystectomy for biliary lithiasis. The proband's 2-year-old son also had well-tolerated chronic hemolytic anemia, whereas her father was reported to have had severe hemolytic anemia treated by splenectomy and occasional transfusions. Hematologic analysis of affected individuals from both families showed anemia, reticulocytosis, and slightly increased MCHC. Blood smears showed mild anisopoikilocytosis with less than 1% target cells, acanthocytes, polychromatophilic red cells, teardrop cells, elliptocytes, hemighosts, bite cells, knizocytes, schizocytes, and rare stomatocytic red cells. Andolfo et al. (2015) studied a family from Naples with congenital hemolytic anemia. The 40-year-old mother, who had a history of neonatal jaundice, presented with moderate macrocytic anemia and was found to have high indirect bilirubin and reduced red cell life span. She never required transfusions and underwent splenectomy and cholecystectomy at age 21. A son who was born with jaundice and elevated bilirubin also had chronic hemolytic anemia. Examination at ages 40 years and 10 years, respectively, revealed jaundice and hepatomegaly in both, with splenomegaly and cholelithiasis in the son. Hematology showed moderate macrocytic anemia in the mother and mild normocytic anemia in the son. Blood smears showed anisopoikilocytosis with rare stomatocytes. Ektacytometric analysis in the nonsplenectomized son showed a left-shifted curve, indicating dehydration as usually seen in DHS patients. Andolfo et al. (2015) stated that neither patient exhibited pseudohyperkalemia. Molecular Genetics In a 4-generation French family with chronic congenital hemolytic anemia, Rapetti-Mauss et al. (2015) performed whole-exome sequencing and identified a heterozygous missense mutation in the KCNN4 gene (R352H; 602754.0001) that segregated with disease. Direct sequencing of KCNN4 in affected individuals from a 3-generation Polish family revealed heterozygosity for the same R352H mutation. Exome sequencing data excluded mutation in the PIEZO1 gene (611184), which is mutated in DHS1 (194380). Rapetti-Mauss et al. (2015) noted variability in disease severity between the 2 families: affected members of the French family had a rather severe level of anemia, whereas affected members of the Polish family presented either normal or subnormal hemoglobin levels. Functional analysis demonstrated that the mutant channel exhibited a 10-fold increase in activation by calcium compared to wildtype, and also showed delayed inactivation. By whole-exome sequencing in affected individuals from the previously studied Worcester kindred with chronic anemia (Fairbanks et al. (1978, 1984); Snyder et al., 1978) and the affected mother and son reported by Glader et al. (1974), Glogowska et al. (2015) identified different heterozygous mutations at the same codon in the KCNN4 gene (V282M, 602754.0002; V282E, 602754.0003). No mutations were found in the PIEZO1 gene. In an Italian mother and son with chronic hemolytic anemia, Andolfo et al. (2015) sequenced the KCNN4 gene and identified heterozygosity for the R352H mutation. They also analyzed KCNN4 in the Worcester kindred and detected the V282M mutation. Each mutation segregated with disease in the respective family, and neither was found in the 1000 Genomes Project database. Andolfo et al. (2015) stated that although the Worcester kindred was 1 of 10 DHS families studied by Grootenboer et al. (2000) with apparent mapping to chromosome 16q23-q24, there were no PIEZO1 mutations cosegregating with disease in the kindred. However, noting the variation in severity of disease among affected individuals carrying the same KCNN4 mutation, Andolfo et al. (2015) suggested that differences in PIEZO1 polymorphisms carried by those individuals might contribute to differences in clinical phenotypes. In addition, the authors noted that although splenectomy in patients with KCNN4-associated DHS did not appear to predispose to thrombotic events as had been observed in patients with PIEZO1-associated DHS, the procedure also did not seem to improve anemia in the KCNN4-mutated patients. INHERITANCE \- Autosomal dominant ABDOMEN Liver \- Hepatomegaly Biliary Tract \- Biliary lithiasis Spleen \- Splenomegaly SKIN, NAILS, & HAIR Skin \- Jaundice HEMATOLOGY \- Hemolytic anemia, congenital \- Shortened red cell half-life \- Increased autohemolysis \- Reticulocytosis \- Increased mean corpuscular volume (MCV) \- Increased mean corpuscular hemoglobin (MCH) \- Increased mean corpuscular hemoglobin concentration (MCHC) \- Decreased osmotic fragility \- Dehydrated-appearing red cells \- Anisopoikilocytosis \- Target cells \- Fragmented cells \- Echinocytes \- Acanthocytes \- Elliptocytes \- Hemighosts \- Schizocytes \- Polychromatophilic red cells \- Teardrop cells \- Bite cells \- Knizocytes \- Stomatocytes (rare) LABORATORY ABNORMALITIES \- Hyperbilirubinemia MISCELLANEOUS \- Variable severity in symptoms among affected individuals within a family as well as among families with same mutation MOLECULAR BASIS \- Caused by mutation in the potassium channel, calcium-activated, intermediate/small conductance, subfamily N, member-4 gene (KCNN4, 602754.0001 ) ▲ 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 inhibitors [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-aminobutyric 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	DEHYDRATED HEREDITARY STOMATOCYTOSIS 2	c0272051	27,676	omim	https://www.omim.org/entry/616689	2019-09-22T15:48:19	{"mesh": ["C536764"], "omim": ["616689"], "orphanet": ["3202"], "synonyms": ["Alternative titles", "XEROCYTOSIS GARDOS", "DESICCYTOSIS GARDOS"]}
For a phenotypic description and a discussion of genetic heterogeneity of systemic lupus erythematosus, see 152700. Mapping Xing et al. (2005) performed a genomewide scan in 64 multiplex SLE families with at least 1 affected male member and found the largest signal (lod score = 3.08) at 13q32 in 18 African American families. Multipoint model-based linkage analysis generated a lod score of 3.13 in the same chromosomal region. Fine mapping in these 18 families and 3 additional African American families with an affected male member localized the locus to a region tightly linked to the marker D13S892. [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 inhibitors [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-aminobutyric 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	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 5	c1835929	27,677	omim	https://www.omim.org/entry/609903	2019-09-22T16:05:28	{"omim": ["609903"]}
A rare congenital optic disc excavation characterized by deep fundus excavation of chorioretinal atrophy surrounding a relatively normal appearing optic disc. Retinal vasculature is normal, and retinochoroidal coloboma and glial anomalies are absent. Patients present with mostly unilateral markedly reduced visual acuity. Association with other congenital defects or systemic diseases is uncommon. [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 inhibitors [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-aminobutyric 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	Peripapillary staphyloma	None	27,678	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=519400	2021-01-23T17:15:20	{}
Disease with unknown pathogenesis or apparently spontaneous origin An idiopathic disease is any disease with an unknown cause or mechanism of apparent spontaneous origin.[1] From Greek ἴδιος idios "one's own" and πάθος pathos "suffering", idiopathy means approximately "a disease of its own kind". For some medical conditions, one or more causes are somewhat understood, but in a certain percentage of people with the condition, the cause may not be readily apparent or characterized. In these cases, the origin of the condition is said to be idiopathic. With some other medical conditions, the root cause for a large percentage of all cases have not been established—for example, focal segmental glomerulosclerosis or ankylosing spondylitis; the majority of these cases are deemed idiopathic.[2] ## Contents * 1 Medical advances and this term * 2 Usage of synonyms * 3 Syndrome without a name * 4 See also * 5 References * 6 External links ## Medical advances and this term[edit] Advances in medical science improve the understanding of causes of diseases and the classification of diseases; thus, regarding any particular condition or disease, as more root causes are discovered and as events that seemed spontaneous have their origins revealed, the percentage of cases designated as idiopathic decreases. ## Usage of synonyms[edit] The word essential is sometimes synonymous with idiopathic (as in essential hypertension, essential thrombocythemia, and essential tremor) and the same is true of primary (as in primary biliary cholangitis, or primary amenorrhea), with the latter term being used in such cases to contrast with secondary in the sense of "secondary to [i.e., caused by] some other condition." Another, less common synonym is agnogenic (agno-, "unknown" + -gen, "cause" + -ic). The word cryptogenic (crypto-, "hidden" + -gen, "cause" + -ic) has a sense that is synonymous with idiopathic[3] and a sense that is contradistinguished from it. Some disease classifications prefer the use of the synonymous term cryptogenic disease as in cryptogenic stroke,[4] and some forms of epilepsy. The use of cryptogenic is also sometimes reserved for cases where it is presumed that the cause is simple and will be found in the future. Some congenital conditions are idiopathic, and sometimes the word congenital is used synonymously with idiopathic; but careful usage prefers to reserve the word congenital for conditions to which the literal sense of the word applies (that is, those whose pathophysiology has existed since the neonatal period). ## Syndrome without a name[edit] The term syndrome(s) without a name (SWAN) is used "when a child or young adult is believed to have a genetic condition and testing has failed to identify its genetic cause". It is believed that "about half (50%) of children with learning disabilities and approximately 60% of children with congenital disabilities (disabilities which are apparent from birth) do not have a definitive diagnosis to explain the cause of their difficulties".[5][6] ## See also[edit] * Diagnosis of exclusion * Embolic stroke of undetermined source * Functional disorder * Idiosyncratic drug reaction * Fever of unknown origin ## References[edit] 1. ^ "Idiopathic". Concise Medical Dictionary (8th ed.). 2010. doi:10.1093/acref/9780199557141.001.0001. ISBN 9780199557141. Retrieved 2014-01-18. 2. ^ Daskalakis N, Winn M (2006). "Focal and segmental glomerulosclerosis". Cell Mol Life Sci. 63 (21): 2506–11. doi:10.1007/s00018-006-6171-y. PMID 16952054. S2CID 11321176. 3. ^ "cryptogenic". Dorland's Illustrated Medical Dictionary. Elsevier. 4. ^ Ahmad, Y; Howard, JP; Arnold, A; Shin, MS; Cook, C; Petraco, R; Demir, O; Williams, L; Iglesias, JF; Sutaria, N; Malik, I; Davies, J; Mayet, J; Francis, D; Sen, S (24 March 2018). "Patent foramen ovale closure vs. medical therapy for cryptogenic stroke: a meta-analysis of randomized controlled trials". European Heart Journal. 39 (18): 1638–1649. doi:10.1093/eurheartj/ehy121. PMC 5946888. PMID 29590333. 5. ^ "What does SWAN or being undiagnosed mean?". Genetic Alliance UK. 22 March 2017. Retrieved 16 April 2019. 6. ^ "Syndromes without a name (SWAN)". Raising Children Network (Australia). 10 January 2017. Retrieved 16 April 2019. ## External links[edit] * The dictionary definition of idiopathic disease at Wiktionary [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 inhibitors [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-aminobutyric 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	Idiopathic disease	c0277553	27,679	wikipedia	https://en.wikipedia.org/wiki/Idiopathic_disease	2021-01-18T19:09:43	{"umls": ["C0277553"], "wikidata": ["Q594841"]}
Exophoria SpecialtyOphthalmology Exophoria is a form of heterophoria in which there is a tendency of the eyes to deviate outward.[1] During examination, when the eyes are dissociated, the visual axes will appear to diverge away from one another.[2] The axis deviation in exophoria is usually mild compared with that of exotropia. ## Contents * 1 Cause * 2 Diagnosis * 3 Prevalence * 4 References * 5 External links ## Cause[edit] Exophoria can be caused by several factors, which include: * Refractive errors - distance and near deviation approximately equal. * Divergence excess \- exodeviation is more than 15 dioptres greater for distance than near deviation. * Convergence insufficiency \- near exodeviation greater than distance deviation. These can be due to nerve, muscle, or congenital problems, or due to mechanical anomalies. Unlike exotropia, fusion is possible in this condition, causing diplopia to be uncommon. ## Diagnosis[edit] This section is empty. You can help by adding to it. (April 2018) ## Prevalence[edit] Exophoria is particularly common in infancy and childhood, and increases with age.[3][clarification needed] ## References[edit] 1. ^ Allen, Edmund Turney (1899). The science of higher prisms. Harvard University: G. K. Hazlitt 6 Co., printer. p. 39. 2. ^ Grosvenor, Theodore (2007). Primary Care Optometry 5th Ed. Butterworth-Heinemann. p. 224. ISBN 978-0-7506-7575-8. 3. ^ Freier BE, Pickwell LD (1983). "Physiological exophoria". Ophthalmic and Physiological Optics. 3 (3): 267–272. doi:10.1111/j.1475-1313.1983.tb00613.x. PMID 6646761. S2CID 11180397. ## External links[edit] Classification D * ICD-10: H50.5 * ICD-10-CM: H50.52 * ICD-9-CM: 378.42 * 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 This article about the eye 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 inhibitors [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-aminobutyric 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	Exophoria	c0152217	27,680	wikipedia	https://en.wikipedia.org/wiki/Exophoria	2021-01-18T18:47:22	{"mesh": ["D005099"], "icd-9": ["378.42"], "icd-10": ["H50.5"], "wikidata": ["Q3062042"]}
PPoma is a type of pancreatic endocrine tumor (see this term) that hypersecretes pancreatic polypeptide (PP) but that does not cause a hypersecretion syndrome (is non-functioning) and instead presents with only non-specific symptoms such as weight loss, abdominal pain, jaundice, diarrhea and/or an abdominal mass, hence leading to a late diagnosis. PPoma can be associated with multiple endocrine neoplasia 1 (MEN-1; see this term). [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 inhibitors [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-aminobutyric 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	PPoma	c1882278	27,681	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=97278	2021-01-23T18:03:59	{"icd-10": ["E16.8"], "synonyms": ["Pancreatic polypeptidoma"]}
Hypothenar hammer syndrome SymptomsPain over the hypothenar eminence especially at the ring finger, though all fingers of the same hand may be affected (thumb is never affected); increased sensitivity to cold and reduced sense of touch in affected digits[1] Risk factorsRegular use of vibrating tools (carpenters, mechanics, machinists) and a subset of athletics involving repeated high-impact on the hand (baseball catchers, golfers, karate, volleyball)[1] TreatmentNonoperative: cessation of smoking, avoid recurrent trauma; operative: endovascular fibrinolysis, excision of involved segment and reconstruction with or without a vein graft, and arterial ligation[1] Hypothenar hammer syndrome (HHS) is a vascular occlusion in humans in the region of the ulna. It is caused by repetitive trauma to the hand or wrist (such as that caused by the use of a hammer)[2] by the vulnerable portion of the ulnar artery as it passes over the hamate bone, which may result in thrombosis, irregularity or aneurysm formation. HHS is a potentially curable cause of Raynaud's syndrome, distinct from hand–arm vibration syndrome.[3] ## Contents * 1 Diagnosis * 2 Treatment * 3 Epidemiology * 4 References ## Diagnosis[edit] A physical examination of the hand may show discoloration (blanching, mottling, and/ or cyanosis; gangrene may be present in advanced cases), unusual tenderness/ a callous over the hypothenar eminence, and fingertip ulcerations and splinter hemorrhages over ulnar digits; if an aneurysm is present, there may also be a pulsatile mass. Allen's test will be positive if an occlusion is present and negative if an aneurysm is present. An angiogram may show a "corkscrew" ulnar artery or an occlusion or aneurysm at the hook of the hamate.[citation needed] ## Treatment[edit] Noninvasive treatments have an 80% success rate; surgical options exist for other instances.[1] ## Epidemiology[edit] HHS, though rare, occurs much more frequently in men than in women (9:1) and principally affects those in their 40s and 50s.[citation needed] ## References[edit] 1. ^ a b c d Colin Woon. "Hypothenar Hammer Syndrome". Orthobullets.com. 2. ^ "Hypothenar hammer syndrome". 3. ^ Cooke, R. A. (2003). "Hypothenar hammer syndrome: a discrete syndrome to be distinguished from hand-arm vibration syndrome". Occupational Medicine. 53 (5): 320–324. doi:10.1093/occmed/kqg071. ISSN 0962-7480. 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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-aminobutyric 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	Hypothenar hammer syndrome	c1504365	27,682	wikipedia	https://en.wikipedia.org/wiki/Hypothenar_hammer_syndrome	2021-01-18T18:49:43	{"umls": ["C1504365"], "wikidata": ["Q1641467"]}
## Clinical Features Mahloudji and Livingston (1967) described 3 sibs (2 boys and a girl) with congenital anhidrosis. The parents were first cousins from the Ghashghai tribe in the province of Fars in southern Iran. Physical examination of the 3 children revealed dry skin with very thick palms and soles, but no other abnormalities. The facies, hair, and teeth were normal, as were results from a complete urinalysis, whole blood cell count, and chest radiograph. A test for the presence of electrolytes in filter paper attached to the skin showed no activity in spite of extreme flushing and high surface skin temperature. The 1 unaffected sib in the family showed normal sweating pattern and electrolyte production. Skin biopsy from the anterior axilla of the 3 affected children revealed complete absence of sweat glands. INHERITANCE \- Autosomal recessive GROWTH Other \- Normal growth HEAD & NECK Face \- No facial dysmorphism Teeth \- No tooth abnormalities SKIN, NAILS, & HAIR Skin \- Anhidrosis \- Dry skin \- Thick palms and soles Skin Histology \- Absence of sweat glands Nails \- Normal nails Hair \- Normal hair MISCELLANEOUS \- Three sibs in one consanguineous Iranian family have been described (last curated March 2015) ▲ 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 inhibitors [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-aminobutyric 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	ANHIDROSIS, FAMILIAL GENERALIZED, WITH ABNORMAL OR ABSENT SWEAT GLANDS	c4225670	27,683	omim	https://www.omim.org/entry/206600	2019-09-22T16:30:57	{"omim": ["206600"]}
A number sign (#) is used with this entry because of evidence that elliptocytosis-3 is caused by homozygous or heterozygous mutation in the SPTB gene (182870) on chromosome 14q23. Description Hereditary elliptocytosis-3 is a hemolytic disorder characterized by the presence of elliptical erythrocytes and resulting in some cases in hemolytic anemia (summary by Qualtieri et al., 1997). For a general description and a discussion of genetic heterogeneity of hereditary elliptocytosis (HE), see EL1 (611804). Clinical Features Aksoy et al. (1974) described severe hemolytic anemia in a patient who seemingly had both elliptocytosis (inherited probably from the father) and spherocytosis (inherited from the mother). This finding raised a question of possible allelism of spherocytosis and one form of elliptocytosis. A genetic compound is more likely to show summation of effects than is a double heterozygote (McKusick, 1973). Now that separate mutations in the beta-spectrin gene are known to cause either spherocytosis or elliptocytosis, the genetic compound hypothesis is particularly plausible. Pothier et al. (1987) described a 17-year-old white boy who presented with intermittent jaundice and spleen enlargement. He complained of asthenia and abdominal pains, which developed after meals or sports. Soon after birth he had presented with an acute hemolytic episode requiring a blood transfusion. Examination of erythrocytes at age 17 years on dried blood smears or after fixation with glutaraldehyde revealed 95% elliptocytosis. Both parents and a brother were clinically and hematologically normal. Eber et al. (1988) described a large 5-generation German family in which 2 male members of the family suffered from recurrent hemolytic crises necessitating occasional transfusions. After splenectomy, both showed a persisting compensated microcytic hemolytic anemia. Their red cells displayed elliptocytosis and poikilocytosis. Three other members had anemia and recurring icterus but were otherwise well. A 75-year-old woman with relatively mild hemolytic anemia underwent cholecystectomy for pigment gallstones. One female member required an exchange transfusion shortly after birth because of severe hyperbilirubinemia and thereafter suffered from marked hemolytic anemia for which splenectomy was advised. Precocious and severe hemolytic anemia and hyperbilirubinemia was present in another neonate who later died from perinatal stress. Kanzaki et al. (1992) studied an 8-month-old Japanese girl in whom moderate uncompensated hemolysis had been noted at 3 months of age. Neonatal jaundice had been successfully treated with light therapy for 48 hours. Elliptocytosis was present in nearly 90% of red blood cells. Neither hepatosplenomegaly nor lymphadenopathy was present. The patient's mother presented with slightly increased hemolysis and typical elliptocytosis identical to that of the proband. No other hematologic abnormalities were detected. ### Anemia, Perinatal Hemolytic, Fatal or Near-Fatal Gallagher et al. (1995) studied a Laotian kindred in which 4 third-trimester fetal losses occurred, associated with severe Coombs-negative hemolytic anemia and extensive extramedullary erythropoiesis. Postmortem examination of 2 infants revealed overt hydrops fetalis. Studies of erythrocytes and erythrocyte membranes from the parents revealed abnormal membrane mechanical stability as well as structural and functional abnormalities in spectrin. Both parents had mild elliptocytosis, and the father was heterozygous for both hemoglobin E trait and alpha-thalassemia trait. Blood smears from 1 infant revealed marked microcytosis, spherocytosis, polychomatophilia, poikilocytosis with red cell fragmentation, and the presence of numerous nucleated red blood cells. Gallagher et al. (1997) described a Laotian family in which 2 sibs were born with severe nonimmune hemolytic anemia and hydrops fetalis. The first sib died on the second day of life. The neonatal course of the second sib was marked by ongoing hemolysis requiring repeated erythrocyte transfusions. He had remained transfusion-dependent for more than 2 years. His peripheral blood smear showed microspherocytes and nucleated red blood cells. Peripheral blood smears from both parents revealed rare elliptocytes. Examination of the patient erythrocyte membranes revealed abnormal mechanical stability, as well as structural and functional abnormalities in spectrin. Molecular Genetics Eber et al. (1988) found a truncated beta chain in affected members of a large German family in which several members suffered in varying degrees from a microcytic hemolytic anemia. The red cell morphology varied from smooth elliptocytes to predominantly poikilocytes. The abnormal spectrin made up about 30% of the total and was present almost entirely as the dimer. Ohanian et al. (1985) described a case of hemolytic anemia with elliptocytosis in which a large part of the beta subunit of spectrin was truncated. Coetzer and Zail (1981) and Dhermy et al. (1982) found variants of the beta-subunit in patients with hereditary elliptocytosis. In the patient studied by Pothier et al. (1987), Tse et al. (1991) detected heterozygosity for a 2-bp insertion after position 6231 in the beta-spectrin cDNA, resulting in frameshift and premature termination (182870.0005). In an 8-month-old Japanese girl with hemolysis and elliptocytosis, Kanzaki et al. (1992) detected a 1-bp insertion in the SPTB gene (182870.0006). In 3 members of a Calabrian family from southern Italy, Qualtieri et al. (1997) found heterozygosity for a single-base substitution changing the beta-spectrin codon 2064 from arginine to proline (R2064P; 182870.0012). Gallagher and Forget (1996) cataloged 15 reported beta-spectrin mutations found in cases of hereditary elliptocytosis and hereditary pyropoikilocytosis. Three were splicing mutations, 3 were deletions, 1 was an insertion, and the remainder were missense mutations. ### Anemia, Perinatal Hemolytic, Fatal or Near-Fatal In a Laotian family with third-trimester fetal loss associated with hemolytic anemia and hydrops fetalis, Gallagher et al. (1995) detected a ser2019-to-pro substitution (S2019P; 182870.0009) in the C-terminal region of beta-spectrin that is critical for normal spectrin self-association. The parents and surviving children were heterozygous for the mutation, and the 3 deceased infants from whom material was available were homozygous. In 2 sibs from a Laotian nonconsanguineous family with severe nonimmune hemolytic anemia and hydrops fetalis at birth, one who died on the second day of life and the other who was alive at 2 years of age, Gallagher et al. (1997) found homozygosity for a mutation in the SPTB gene resulting in a leu2025-to-arg substitution (L2025R; 182870.0011) in the region of beta-spectrin that participates in spectrin self-association. Each parent was heterozygous for the mutation, and the sibs homozygous. [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 inhibitors [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-aminobutyric 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	ELLIPTOCYTOSIS 3	c0013902	27,684	omim	https://www.omim.org/entry/617948	2019-09-22T15:44:25	{"mesh": ["D004612"], "omim": ["617948"], "orphanet": ["288"]}
Vici syndrome is a severe disorder that begins early in life and affects many body systems. It is characterized by abnormalities of the brain, immune system, heart, skin, and eyes. Other organs and tissues are less commonly affected. A characteristic feature of Vici syndrome is a brain abnormality called agenesis of the corpus callosum, in which the tissue that connects the left and right halves of the brain (the corpus callosum) fails to form normally during the early stages of development before birth. Other brain abnormalities can occur in Vici syndrome, including underdevelopment of a region of the brain known as the pons (pontine hypoplasia) and reduced myelin, which is a fatty substance that covers and protects nerve cells. In addition to problems with brain development, breakdown (degeneration) of brain tissue may occur over time, resulting in an unusually small head size (microcephaly). The brain problems contribute to profound developmental delay in individuals with Vici syndrome. Affected infants have weak muscle tone (hypotonia). Few are able to roll, and they may lose this skill when they get older. None are able to sit or walk. In addition, affected children cannot speak. Another characteristic feature of Vici syndrome is impaired immune function (immune deficiency), which leads to recurrent infections that can be life-threatening. Respiratory infections are most common, and gastrointestinal and urinary tract infections are frequent. A potentially life-threatening heart condition called cardiomyopathy is common in children with Vici syndrome. This condition, which worsens over time, makes it difficult for the heart to pump blood efficiently. Some affected children also have heart defects that are present from birth (congenital). Other key features of Vici syndrome include skin and hair that are lighter in color than that of family members and other people with the same ethnic background (hypopigmentation), and clouding of the lenses of the eyes (cataracts) or other eye abnormalities, which may reduce vision. Other, less-common signs and symptoms of Vici syndrome include seizures; hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss); an opening in the upper lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate) or other unusual facial features; and abnormal function of the thyroid, liver, or kidneys. Many affected infants grow and gain weight more slowly than expected. Due to the severity of the condition, most people with Vici syndrome do not survive beyond age 5. ## Frequency Vici syndrome is a rare disorder of unknown prevalence. Approximately 100 individuals have been diagnosed with this condition. ## Causes Mutations in the EPG5 gene cause Vici syndrome. This gene provides instructions for making a protein that is involved in a cellular process called autophagy. Cells use this process to recycle or break down worn-out or unnecessary cell parts. Autophagy also helps cells use materials most efficiently when energy demands are high. In addition to its role in autophagy, the EPG5 protein aids in the body's immune response to foreign invaders such as bacteria and viruses. The EPG5 gene mutations that cause Vici syndrome lead to production of abnormal EPG5 proteins that do not function. Without functioning EPG5 protein, foreign invaders do not trigger immune reactions, which leads to recurrent infections. In addition, autophagy is impaired. Researchers speculate that problems with autophagy disrupt the normal development and survival of cells in the brain and other organs and tissues that require large amounts of energy; however, they do not fully understand how the impairment leads to signs and symptoms of Vici syndrome. ### Learn more about the gene associated with Vici syndrome * EPG5 ## 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 inhibitors [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-aminobutyric 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	Vici syndrome	c1855772	27,685	medlineplus	https://medlineplus.gov/genetics/condition/vici-syndrome/	2021-01-27T08:25:14	{"gard": ["448"], "mesh": ["C535566"], "omim": ["242840"], "synonyms": []}
Indium lung SpecialtyPulmonology Indium lung is a rare occupational lung disease caused by exposure to respirable indium in the form of indium tin oxide. It is classified as an interstitial lung disease (diffuse parenchymal lung disease).[1] ## Contents * 1 Signs and symptoms * 1.1 Complications * 2 Causes * 3 Mechanism * 4 Diagnosis * 4.1 Laboratory findings * 5 Prevention * 6 Treatment * 7 Prognosis * 8 History * 9 Epidemiology * 10 References * 11 Further reading ## Signs and symptoms[edit] The major signs of indium lung are pulmonary alveolar proteinosis and pulmonary fibrosis. Symptoms include dyspnea (shortness of breath), cough, and increased sputum production. Hemoptysis has also been seen in people with indium lung.[1] Other symptoms seen in some but not all cases include digital clubbing, low DLCO (capacity to move oxygen from the alveoli into the blood), and lowered forced expiratory volume. Emphysema has been associated with indium lung, but may not be part of the syndrome.[2] ### Complications[edit] Lung cancer may be related to indium lung disease, though indium is not a known carcinogen.[1] ## Causes[edit] Indium lung is caused by exposure to indium tin oxide in a variety of occupational contexts, including reclamation and production.[1] Exposure to indium tin oxide as it reacts can lead to exposure to indium metal, indium hydroxide, and indium oxide. ## Mechanism[edit] The exact mechanism of pathogenesis is unknown, but it is hypothesized that indium may exacerbate existing autoimmune disorders or that phagocytosis of indium by alveolar macrophages may cause dysfunction in the macrophages.[2] ## Diagnosis[edit] CT scanning and radiography can be used to aid in the diagnosis of indium lung. CT abnormalities include ground-glass opacities, interlobular septal thickening, honeycombing, and bronchiectasis.[1][2] ### Laboratory findings[edit] Multiple abnormal laboratory findings have been noted in indium lung. High levels of serum indium have been found in all cases of indium lung. Other abnormal laboratory values that have been found include elevated alanine aminotransferase, elevated aspartate aminotransferase, elevated C-reactive protein, elevated interstitial lung disease markers, and elevated GM-CSF autoantibodies.[2] ## Prevention[edit] The National Institute of Occupational Safety and Health, Japan (JNIOSH) set limits for acceptable exposure at 0.0003 mg/m3 after the discovery of indium lung.[2][3] Methods for reducing indium exposure are thought to be the best mode of protection. Medical surveillance of indium workers is also a method of prevention.[2] ## Treatment[edit] There is no standardized treatment for indium lung disease. Treatment options include pulmonary lavage and corticosteroid therapy.[1][2] ## Prognosis[edit] Prognostic factors were a matter of research as of 2012, but preliminary evidence suggests that duration of employment and reported use of respiratory protection are not prognostic factors, but the serum level of indium may be a prognostic factor - higher levels of serum indium have been associated with worse prognoses. Indium lung disease has been fatal in several cases.[2] ## History[edit] It was first described by a group of Japanese researchers in 2003.[1][4] ## Epidemiology[edit] Cases have been reported in Japan, the United States, and China.[1][2][5] The indium industry is mainly based in Japan, where the bulk of cases have occurred; indium industry is also present in the US, China, Taiwan, and South Korea.[4] As of 2010, 10 cases had been described, though more than 100 indium workers had documented respiratory abnormalities.[1] ## References[edit] 1. ^ a b c d e f g h i Sauler, Maor; Gulati, Mridu (December 2012). "Newly Recognized Occupational and Environmental Causes of Chronic Terminal Airways and Parenchymal Lung Disease". Clinics in Chest Medicine. 33 (4): 667–680. doi:10.1016/j.ccm.2012.09.002. PMC 3515663. PMID 23153608. 2. ^ a b c d e f g h i Cummings, Kristin J.; Nakano, Makiko; Omae, Kazuyuki; Takeuchi, Koichiro; Chonan, Tatsuya; Xiao, Yong-long; Harley, Russell A.; Roggli, Victor L.; Hebisawa, Akira (June 2012). "Indium Lung Disease". Chest. 141 (6): 1512–1521. doi:10.1378/chest.11-1880. ISSN 0012-3692. PMC 3367484. PMID 22207675. 3. ^ The Technical Guideline for Preventing Health Impairment of Workers Engaged in the Indium Tin Oxide Handling Processes (PDF). JNIOSH. 2010. 4. ^ a b Homma, Toshiaki; Ueno, Takahiro; Sekizawa, Kiyohisa; Tanaka, Akiyo; Hirata, Miyuki (May 2003). "Interstitial pneumonia developed in a worker dealing with particles containing indium-tin oxide". Journal of Occupational Health. 45 (3): 137–139. doi:10.1539/joh.45.137. ISSN 1341-9145. PMID 14646287. 5. ^ Cummings, Kristin J.; Donat, Walter E.; Ettensohn, David B.; Roggli, Victor L.; Ingram, Peter; Kreiss, Kathleen (March 1, 2010). "Pulmonary alveolar proteinosis in workers at an indium processing facility". American Journal of Respiratory and Critical Care Medicine. 181 (5): 458–464. doi:10.1164/rccm.200907-1022CR. ISSN 1535-4970. PMC 3159086. PMID 20019344. ## Further reading[edit] * Badding, MA; Stefaniak, AB; Fix, NR; Cummings, KJ; Leonard, SS (2014). "Cytotoxicity and characterization of particles collected from an indium-tin oxide production facility". Journal of Toxicology and Environmental Health. Part A. 77 (20): 1193–209. doi:10.1080/15287394.2014.920757. PMC 4192900. PMID 25208660. [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 inhibitors [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-aminobutyric 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	Indium lung	None	27,686	wikipedia	https://en.wikipedia.org/wiki/Indium_lung	2021-01-18T18:33:29	{"wikidata": ["Q25052008"]}
## Summary ### Clinical characteristics. Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) is characterized by slowly progressive cerebellar ataxia and spasticity with dorsal column dysfunction (decreased position and vibration sense) in most patients. The neurologic dysfunction involves the legs more than the arms. The tendon reflexes are retained. Deterioration of motor skills usually starts in childhood or adolescence, but occasionally not until adulthood. Dysarthria develops over time. Occasional findings include: epilepsy; learning problems; cognitive decline; and reduced consciousness, neurologic deterioration, and fever following minor head trauma. Many affected individuals become wheelchair dependent in their teens or twenties. Neonatal or early-infantile onset patients have a severe disease course and may die, whereas late-infantile and early-childhood onset is associated with early wheelchair dependency. ### Diagnosis/testing. The diagnosis of LBSL can be made with confidence in persons with characteristic abnormalities observed on brain and spinal cord MRI and identification of biallelic pathogenic variants in DARS2, encoding mitochondrial aspartyl tRNA synthase. ### Management. Treatment of manifestations: Supportive therapy includes physical therapy and rehabilitation to improve motor function, and the following as needed: antiepileptic drugs (AED), special education, speech therapy. Prevention of secondary complications: Rehabilitation and physical therapy are helpful in the prevention of secondary complications such as contractures and scoliosis. ### Genetic counseling. LBSL 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 family members and prenatal testing for pregnancies at increased risk are possible if the pathogenic variants have been identified in the family. ## Diagnosis ### Suggestive Findings Diagnosis of leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation (LBSL) should be suspected in individuals with characteristic abnormalities observed on brain and spinal cord MRI [van der Knaap et al 2003, Scheper et al 2007, Steenweg et al 2012]. #### MRI Criteria for LBSL 1, 2 Major criteria. Signal abnormalities 3 in the: * Cerebral white matter, which is either nonhomogeneous and spotty or homogeneous and confluent, with relative sparing of the directly subcortical white matter * Dorsal columns and lateral corticospinal tracts of the spinal cord (Visualization of such abnormalities in the cervical spinal cord suffices.) * Pyramids and/or decussation of the medial lemniscus in the medulla oblongata Supportive criteria. Signal abnormalities 3 in the: * Splenium of the corpus callosum * Posterior limb of the internal capsule * Superior cerebellar peduncles * Inferior cerebellar peduncles * Intraparenchymal part of the trigeminal nerve * Mesencephalic trigeminal tracts * Anterior spinocerebellar tracts in the medulla * Cerebellar white matter Notes: 1. Steenweg et al [2012] 2. For an MRI-based diagnosis, all major criteria and at least one supportive criterion should be fulfilled. 3. "Signal abnormalities" refers to abnormally low signal on T1-weighted images and abnormally high signal on T2-weighted images. Note: Lactate is elevated within the abnormal cerebral white matter in most but not all affected individuals [van der Knaap et al 2003, Petzold et al 2006, Labauge et al 2007, Távora et al 2007]. Lactate elevation in proton magnetic resonance spectroscopy of abnormal white matter has been mentioned as a diagnostic criterion but has a low distinguishing value. If the MRI meets the criteria for LBSL, this diagnosis should be considered, whether lactate is elevated or not. If the MRI does not meet the criteria for LBSL, elevated lactate may be a general indicator of a mitochondrial leukoencephalopathy, but not specifically LBSL. ### Establishing the Diagnosis The diagnosis of LBSL is established in a proband with the identification of biallelic pathogenic variants in DARS2 (see Table 1). Molecular testing approaches can include: * Single-gene testing. Sequence analysis of DARS2 is performed first and followed by deletion/duplication analysis and/ or mRNA if only one or no pathogenic variant is found. * Use of a multigene panel that includes DARS2 and other genes of interest (see Differential Diagnosis). 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. If single-gene testing (and/or use of a multigene panel) has not confirmed a diagnosis in an individual with features of LBSL, more comprehensive genomic testing (when available) may be considered. Such testing may include exome sequencing, genome sequencing, and mitochondrial sequencing. 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 Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation View in own window Gene 1MethodProportion of Probands with a Pathogenic Variant Detectable by Method DARS2Sequence analysis 2~90% 3, 4 Deletion/duplication analysis 5None reported 1\. See Table A. Genes and Databases for chromosome locus and protein. See Molecular Genetics for information on allelic variants detected in this gene. 2\. Sequence analysis detects variants that are benign, likely benign, of unknown 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. 3\. Affected individuals are almost invariably compound heterozygous for two pathogenic variants in DARS2. In a few individuals it has not been possible to determine both pathogenic variants (see footnote 4). A few individuals with homozygous pathogenic variants have been identified. 4\. In four of 43 families the second pathogenic variant could not be found in gDNA; in two of three the second pathogenic variant was detected using cDNA; cells of the fourth individual were not available for isolation of mRNA for cDNA synthesis. In one person fulfilling the MRI criteria for LBSL, no pathogenic variants in DARS2 were detected in either gDNA or cDNA [Scheper et al 2007; Scheper & van der Knaap, personal communication]. 5\. Testing that identifies exon or whole-gene deletions/duplications not detectable by sequence analysis of the coding and flanking intronic regions of genomic DNA. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray (CMA) that includes this gene/chromosome segment. ## Clinical Characteristics ### Clinical Description Variable severity. The disease spectrum ranges from neonatal-onset severe forms with death before age two years [Steenweg et al 2012] to adult-onset slow forms with only mild impairment [van Berge at al 2014]. Childhood onset is most common [van Berge et al 2014]. With the exception of the early-onset variant, the disease is slowly progressive. Most individuals with childhood onset become partially or fully wheelchair-dependent in their teens, twenties or later, while patients with adult-onset disease are not known to become wheelchair dependent [van Berge at al 2014]. By contrast, neonatal or early-infantile onset patients have a severe disease course and may die, while late-infantile and early childhood onset is associated with early wheelchair dependency. Motor skills. In most affected individuals, initial development is normal. Deterioration of motor skills usually starts in childhood or adolescence [van der Knaap et al 2003, Linnankivi et al 2004, Serkov et al 2004, Távora et al 2007, Uluc et al 2008, van Berge et al 2014] and occasionally in infancy [Steenweg et al 2012] or adulthood [Petzold et al 2006, Labauge et al 2007, van Berge et al 2014]. The clinical picture of LBSL consists of slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, involving the legs more than the arms. Tendon reflexes are retained. Most affected individuals have decreased position and vibration sense of the legs more than the arms, leading to increased difficulty walking in the dark. Manual dexterity becomes impaired to a variable degree. Evidence of an axonal neuropathy is found in some but not all affected individuals, leading to decreased or absent tendon reflexes and distal weakness and sensory loss [van der Knaap et al 2003, Távora et al 2007, Uluc et al 2008, Isohanni et al 2010]. Speech. Dysarthria develops over time. Cognitive skills. Some have learning problems from early on, but most have normal intellectual capacity. Cognitive decline may occur and is usually mild [van der Knaap et al 2003, Serkov et al 2004]. Epilepsy. Some affected individuals develop epilepsy. Seizures are infrequent and easily controlled with medication [van der Knaap et al 2003]. Response to minor head trauma. Some affected individuals experience lowered consciousness, neurologic deterioration, and fever following minor head trauma [Serkov et al 2004]. Recovery is only partial. Routine laboratory tests, including CSF analysis, are usually normal. In a few individuals mild and inconsistent mild elevation of lactate concentration has been noted in blood or CSF or both. No published information is available. Neuropathologic findings have been described in two sibs with a severe variant of LBSL [Yamashita et al 2013]. Electron microscopy revealed vacuolar changes and myelin splitting in the affected white matter [Yamashita et al 2013]. Quantitative MR parameters are in line with these findings [Steenweg et al 2011]. ### Genotype-Phenotype Correlations The study of genotype-phenotype correlations is hampered by the very high number of different pathogenic variants observed in individuals with LBSL. The numbers of patients sharing the same genotype are low. An overview study of 66 affected individuals revealed preliminary evidence in support of a genotype-phenotype correlation [van Berge et al 2014]. ### Prevalence LBSL is rare. Carrier rate in the general population is low, with the exception of Finland, where a carrier rate of 1:95 has been reported [Isohanni et al 2010]. So far, only one family with parental consanguinity has been observed [Miyake et al 2011]. Almost all affected individuals are compound heterozygous for two pathogenic variants. Only four patients from two families have been described with homozygous pathogenic variants [Miyake et al 2011, Synofzik et al 2011]. Strikingly, no cases of homozygosity have been seen among Finnish persons with LBSL [van Berge et al 2014]. ## Differential Diagnosis The clinical picture of LBSL consists of slowly progressive cerebellar ataxia, spasticity, and dorsal column dysfunction, involving the legs more than the arms. The tendon reflexes are retained. Based on these findings alone, many disorders can be considered [Finsterer 2009a]; however, the MRI findings distinguish LBSL from other spinocerebellar ataxias [van der Knaap et al 2003]. The clinical findings of a spinocerebellar ataxia in combination with MRI abnormalities of the dorsal columns, lateral corticospinal tracts, and cerebral white matter would be compatible with vitamin B12 deficiency (combined cord degeneration) [Locatelli et al 1999]. The brain stem abnormalities typically seen in LBSL do not occur in vitamin B12 deficiency. In vitamin B12 deficiency the cervical spinal cord is mainly affected [Locatelli et al 1999], whereas in LBSL the entire spinal cord is affected [van der Knaap et al 2003]. Elevated lactate in MRS or body fluids or both in combination with clinical findings of a spinocerebellar ataxia or white matter abnormalities on MRI or both should lead to the consideration of mitochondrial disorders [Finsterer 2009b]. Although the brain stem and spinal cord are frequently affected in mitochondrial disorders, the selective involvement of specific brain stem and spinal cord tracts is unique for LBSL [van der Knaap & Valk 2005]. Hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL), caused by pathogenic variants in DARS, shares part of the selective vulnerability of brain stem and spinal cord structures [Taft et al 2013]. ## Management ### Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with LBSL, the following evaluations are recommended: * Neurologic examination * Brain and spinal cord MRI * If possible, proton MRS of abnormal cerebral white matter * Physical therapy/occupational therapy assessment * Clinical genetics consultation ### Treatment of Manifestations Supportive therapy includes the following: * Physical therapy and rehabilitation to improve motor function * The following as needed: * Antiepileptic drugs (AED) if epileptic seizures are present * Special education * Speech therapy ### Prevention of Secondary Complications Rehabilitation and physical therapy are helpful in the prevention of secondary complications, such as contractures and scoliosis. ### Surveillance LBSL is very slowly progressive in most cases. Annual clinical evaluations suffice. In case of rapid worsening more frequent evaluations are appropriate. Follow-up MRI can be performed once every few years. Only in severe, early-onset cases are more frequent evaluations necessary. ### Evaluation of Relatives at Risk See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes. ### Pregnancy Management The authors are aware of several affected mothers who have had children. There do not appear to be specific risks for the mother or fetus other than the risk of recurrence of LBSL in the fetus (see Genetic Counseling). ### 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. ### Other Studies of muscle biopsies, fibroblasts, and lymphoblasts show no evidence of mitochondrial dysfunction; therefore, there is no rationale for the "mitochondrial cocktail" of vitamins and cofactors, often given to persons with mitochondrial dysfunction. [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 inhibitors [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-aminobutyric 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	Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation	c1970180	27,687	gene_reviews	https://www.ncbi.nlm.nih.gov/books/NBK43417/	2021-01-18T21:15:12	{"mesh": ["C567009"], "synonyms": ["LBSL", "Mitochondrial Aspartyl-tRNA Synthetase Deficiency"]}
Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. Common symptoms include sparse scalp and body hair, reduced ability to sweat, and missing teeth. HED is caused by mutations in the EDA, EDAR, or EDARADD genes. It may be inherited in an X-linked recessive, autosomal recessive, or autosomal dominant manner depending on the genetic cause of the condition. The X-linked form is the most common form. The forms have similar signs and symptoms, however the the autosomal dominant form tends to be the mildest. Treatment of hypohidrotic ectodermal dysplasia may include special hair care formulas or wigs, measures to prevent overheating, removal of ear and nose concretions, and dental evaluations and treatment (e.g., restorations, dental implants, or dentures). [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 inhibitors [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-aminobutyric 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	Hypohidrotic ectodermal dysplasia	c0162359	27,688	gard	https://rarediseases.info.nih.gov/diseases/76/hypohidrotic-ectodermal-dysplasia	2021-01-18T17:59:53	{"mesh": ["D053358"], "synonyms": ["HED", "Ectodermal dysplasia, hypohidrotic", "Anhidrotic ectodermal dysplasia", "Ectodermal dysplasia anhidrotic", "EDA"]}
A number sign (#) is used with this entry because of evidence that congenital heart defects and skeletal malformations syndrome(CHDSKM) is caused by heterozygous mutation in the ABL1 gene (189980) on chromosome 9q34. Description Congenital heart defects and skeletal malformations syndrome (CHDSKM) is characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Skeletal defects are variable and include pectus excavatum, scoliosis, and finger contractures, and some patient exhibit joint laxity. Failure to thrive is observed during infancy and early childhood (Wang et al., 2017). Clinical Features Wang et al. (2017) studied affected individuals from 4 unrelated families who exhibited dysmorphic facial features, congenital heart disease, skeletal abnormalities, joint problems, failure to thrive, gastrointestinal problems, and male genital anomalies. In younger children, dysmorphic features included broad forehead, small nose, deep-set eyes, and small chin, whereas in older patients, the face appeared elongated, with a narrow maxilla, long and narrow nose, and pointed chin. Common skeletal abnormalities included pectus excavatum, scoliosis, finger contractures, and hindfoot deformity. Congenital heart defects included atrial and ventricular septal defects, and in older patients, aortic root dilation. Joint laxity was present in 3 patients. Molecular Genetics In the probands from 4 unrelated families with congenital heart defects and skeletal malformations, Wang et al. (2017) performed exome sequencing and identified heterozygosity for missense mutations in the ABL1 gene in all 4; 3 probands had a Y245C (189980.0007) mutation, and 1 proband had an A356T (189980.0008) mutation. The mutations segregated with disease in each family, and the Y245C variant was shown to have arisen de novo in 2 of the families. INHERITANCE \- Autosomal dominant GROWTH Height \- Short stature Other \- Intrauterine growth retardation (in some patients) \- Failure to thrive HEAD & NECK Face \- Broad forehead (in younger children) \- Small chin (in younger children) \- Elongated face (in adults) \- Narrow maxilla (in adults) \- Pointed chin (in adults) Eyes \- Deep-set eyes (in younger children) Nose \- Small nose (in younger children) \- Long nose (in adults) \- Narrow nose (in adults) Mouth \- High-arched palate Teeth \- Dental caries \- Dental crowding CARDIOVASCULAR Heart \- Atrial septal defect \- Ventricular septal defect Vascular \- Aortic root dilation \- Coarctation of the aorta, mild (1 patient) RESPIRATORY Lung \- Pneumothorax, recurrent CHEST External Features \- Pectus excavatum Diaphragm \- Diaphragmatic hernia ABDOMEN Gastrointestinal \- Constipation \- Rectosigmoid dysmotility (1 patient) \- Intestinal malrotation (1 patient) \- Imperforate anus (1 patient) GENITOURINARY External Genitalia (Male) \- Hypospadias Internal Genitalia (Male) \- Cryptorchidism (1 patient) SKELETAL Spine \- Scoliosis Limbs \- Joint hyperextensibility/laxity Hands \- Finger contractures \- Fifth-finger clinodactyly \- Fifth-finger camptodactyly \- Arachnodactyly (1 patient) Feet \- Pes planus SKIN, NAILS, & HAIR Skin \- Thin skin \- Cutis marmorata \- Velvety skin NEUROLOGIC Central Nervous System \- Developmental delay (in some patients) MISCELLANEOUS \- No malignancies detected in patients with germline mutations MOLECULAR BASIS \- Caused by mutation in the Abelson murine leukemia viral oncogene homolog 1 gene (ABL1, 189980.0007 ) ▲ 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 inhibitors [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-aminobutyric 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	CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME	c4539857	27,689	omim	https://www.omim.org/entry/617602	2019-09-22T15:45:49	{"omim": ["617602"]}
Inflammatory bowel disease that causes ulcers in the colon Ulcerative colitis Endoscopic image of a colon affected by ulcerative colitis. The internal surface of the colon is blotchy and broken in places. Mild-moderate disease. SpecialtyGastroenterology SymptomsAbdominal pain, diarrhea mixed with blood, weight loss, fever, anemia[1] ComplicationsMegacolon, inflammation of the eye, joints, or liver, colon cancer[1][2] Usual onset15–30 years or > 60 years[1] DurationLong term[1] CausesUnknown[1] Diagnostic methodColonoscopy with tissue biopsies[1] Differential diagnosisDysentery, Crohn's disease, ischemic colitis[3] TreatmentDietary changes, medication, surgery[1] MedicationSulfasalazine, mesalazine, steroids, immunosuppressants such as azathioprine, biological therapy[1] Frequency2-299 per 100,000[4] Deaths47,400 together with Crohn's (2015)[5] Ulcerative colitis (UC) is a long-term condition that results in inflammation and ulcers of the colon and rectum.[1][6] The primary symptoms of active disease are abdominal pain and diarrhea mixed with blood.[1] Weight loss, fever, and anemia may also occur.[1] Often, symptoms come on slowly and can range from mild to severe.[1] Symptoms typically occur intermittently with periods of no symptoms between flares.[1] Complications may include abnormal dilation of the colon (megacolon), inflammation of the eye, joints, or liver, and colon cancer.[1][2] The cause of UC is unknown.[1] Theories involve immune system dysfunction, genetics, changes in the normal gut bacteria, and environmental factors.[1][7] Rates tend to be higher in the developed world with some proposing this to be the result of less exposure to intestinal infections, or to a Western diet and lifestyle.[6][8] The removal of the appendix at an early age may be protective.[8] Diagnosis is typically by colonoscopy with tissue biopsies.[1] It is a kind of inflammatory bowel disease (IBD) along with Crohn's disease and microscopic colitis.[1] Dietary changes, such as maintaining a high-calorie diet or lactose-free diet, may improve symptoms.[1] Several medications are used to treat symptoms and bring about and maintain remission, including aminosalicylates such as mesalazine or sulfasalazine, steroids, immunosuppressants such as azathioprine, and biologic therapy.[1] Removal of the colon by surgery may be necessary if the disease is severe, does not respond to treatment, or if complications such as colon cancer develop.[1] Removal of the colon and rectum generally cures the condition.[1][8] Together with Crohn's disease, about 11.2 million people were affected as of 2015[update].[9] Each year it newly occurs in 1 to 20 per 100,000 people, and 5 to 500 per 100,000 individuals are affected.[6][8] The disease is more common in North America and Europe than other regions.[8] Often it begins in people aged 15 to 30 years, or among those over 60.[1] Males and females appear to be affected in equal proportions.[6] It has also become more common since the 1950s.[6][8] Together, ulcerative colitis and Crohn's disease affect about a million people in the United States.[10] With appropriate treatment the risk of death appears the same as that of the general population.[2] The first description of ulcerative colitis occurred around the 1850s.[8] ## Contents * 1 Signs and symptoms * 1.1 Gastrointestinal * 1.1.1 Extent of involvement * 1.1.2 Severity of disease * 1.2 Extraintestinal manifestations and complications * 1.3 Primary sclerosing cholangitis * 2 Causes * 2.1 Genetic factors * 2.2 Environmental factors * 2.3 Alternative theories * 3 Pathophysiology * 4 Diagnosis * 4.1 Endoscopic * 4.2 Histologic * 4.3 Laboratory tests * 4.4 Imaging * 4.5 Differential diagnosis * 5 Management * 5.1 Medication * 5.1.1 Aminosalicylates * 5.1.2 Biologics * 5.1.3 Nicotine * 5.1.4 Iron supplementation * 5.2 Surgery * 5.3 Bacterial recolonization * 5.4 Alternative medicine * 6 Prognosis * 6.1 Progression or remission * 6.2 Colorectal cancer * 6.3 Mortality * 7 History * 8 Epidemiology * 8.1 United States * 8.2 Canada * 8.3 United Kingdom * 9 Research * 10 Notable cases * 11 References * 12 Further reading * 13 External links ## Signs and symptoms[edit] Signs and symptoms Crohn's disease Ulcerative colitis Defecation Often porridge-like,[11] sometimes steatorrhea Often mucus-like and with blood[11] Tenesmus Less common[11] More common[11] Fever Common[11] Indicates severe disease[11] Fistulae Common[12] Seldom Weight loss Often More seldom ### Gastrointestinal[edit] People with ulcerative colitis usually present with diarrhea mixed with blood,[13] of gradual onset that persists for an extended period of time (weeks). Additional symptoms may include fecal incontinence, increased frequency of bowel movements, mucus discharge, and nocturnal defecations.[13] With proctitis (inflammation of the rectum), people with UC may experience urgency or rectal tenesmus, which is the urgent desire to evacuate the bowels but with the passage of little stool.[13] Tenesmus may be misinterpreted as constipation, due to the urge to defecate despite small volume of stool passage. Bloody diarrhea and abdominal pain may be more prominent features in severe disease.[13] The severity of abdominal pain with UC varies from mild discomfort to very painful bowel movements and abdominal cramping.[14] High frequency of bowel movements, weight loss, nausea, fatigue, and fever are also common during disease flares. Chronic bleeding from the GI tract, chronic inflammation, and iron deficiency often leads to anemia, which can affect quality of life.[15] The clinical presentation of ulcerative colitis depends on the extent of the disease process.[16] Up to 15% of individuals may have severe disease upon initial onset of symptoms.[13] A substantial proportion (up to 45%) of people with a history of UC without any ongoing symptoms (clinical remission) have objective evidence of ongoing inflammation.[17] Ulcerative colitis is associated with a generalized inflammatory process that can affect many parts of the body. Sometimes, these associated extra-intestinal symptoms are the initial signs of the disease.[18] #### Extent of involvement[edit] Classification of colitis, often used in defining the extent of involvement of ulcerative colitis, with proctitis (blue), proctosigmoiditis (yellow), left sided colitis (orange) and pancolitis (red). All classes extend distally to the end of the rectum. In contrast to Crohn's disease, which can affect areas of the gastrointestinal tract outside of the colon, ulcerative colitis is usually confined to the colon. Inflammation in ulcerative colitis is usually continuous, typically involving the rectum, with involvement extending proximally (to sigmoid colon, ascending colon, etc).[19] In contrast, inflammation with Crohn's disease is often patchy, with so-called "skip lesions."[20] The disease is classified by the extent of involvement, depending on how far the disease extends:[14] proctitis (rectal inflammation), left sided colitis (inflammation extending to descending colon), and extensive colitis (inflammation proximal to the descending colon).[19] Proctosigmoiditis describes inflammation of the rectum and sigmoid colon. Pancolitis describes involvement of the entire colon, extending from the rectum to the cecum. While usually associated with Crohn's disease, ileitis (inflammation of the ileum) also occurs in UC. About 17% of individuals with UC have ileitis.[21] Ileitis more commonly occurs in the setting of pancolitis (occurring in 20% of cases of pancolitis),[13] and tends to correlate with the activity of colitis. This so-called "backwash ileitis" can occur in 10–20% of people with pancolitis and is believed to be of little clinical significance.[22] #### Severity of disease[edit] In addition to the extent of involvement, UC is also characterized by severity of disease.[19] Severity of disease is defined by symptoms, objective markers of inflammation (endoscopic findings, blood tests), disease course, and the impact of the disease on day-to-day life.[19] Mild disease correlates with fewer than four stools daily; in addition, mild urgency and rectal bleeding may occur intermittently.[19] Mild disease lacks systemic signs of toxicity, and exhibits normal levels of serum inflammatory markers (erythrocyte sedimentation rate and C-reactive protein). Moderate to severe disease correlates with more than six stools daily, frequent bloody stools and urgency.[19] Moderate abdominal pain, low-grade fever, 38 to 39 °C (100 to 102 °F), and anemia may develop (not requiring transfusion). Toxicity is present, as demonstrated by fever, tachycardia, anemia or an elevated ESR or CRP.[19] Fulminant disease correlates with more than 10 bowel movements daily, continuous bleeding, toxicity, abdominal tenderness and distension, blood transfusion requirement, and colonic dilation (expansion). People with fulminant UC may have inflammation extending beyond just the mucosal layer, causing impaired colonic motility and leading to toxic megacolon. If the serous membrane is involved, a colonic perforation may ensue. Ulcerative colitis may improve and enter remission. Remission of disease is characterized by formed stools, the absence of bloody diarrhea, resolution of urgency, and normal levels of serum inflammatory markers.[19] ### Extraintestinal manifestations and complications[edit] Complications Crohn's disease Ulcerative colitis Nutrient deficiency Higher risk Colon cancer risk Slight Considerable Prevalence of extraintestinal complications[23][24][25] Iritis/uveitis Females 2.2% 3.2% Males 1.3% 0.9% Primary sclerosing cholangitis Females 0.3% 1% Males 0.4% 3% Ankylosing spondylitis Females 0.7% 0.8% Males 2.7% 1.5% Pyoderma gangrenosum Females 1.2% 0.8% Males 1.3% 0.7% Erythema nodosum Females 1.9% 2% Males 0.6% 0.7% Aphthous ulcers involving the tongue, lips, palate, and pharynx. Pyoderma gangrenosum with large ulcerations affecting the back. As UC is believed to have a systemic (i.e., autoimmune) origin, people with UC may present with comorbidities leading to symptoms and complications outside the colon. Commonly affected organ systems include: eyes, joints, skin, and liver.[26] The frequency of such extraintestinal manifestations has been reported as between 6 and 47%.[27][28] UC may affect the mouth. About 8% of individuals with UC develop oral manifestations.[29] The two most common oral manifestations are aphthous stomatitis and angular cheilitis.[29] Aphthous stomatitis is characterized by ulcers in the mouth, which are benign, noncontagious and often recurrent. Angular chelitis is characterized by redness (erythema) at the corners of the mouth, which may include painful sores or breaks in the skin.[29] Very rarely, benign pustules may occur in the mouth (pyostomatitis vegetans).[29] UC may affect the eyes. Inflammation may occur in the interior portion of the eye, leading to uveitis and iritis.[30] Uveitis can cause blurred vision and eye pain, especially when exposed to light (photophobia). Untreated, uveitis can lead to permanent vision loss.[30] Inflammation may also involve the white part of the eye (sclera) or the overlying connective tissue (episclera), causing conditions called scleritis and episcleritis. Episcleritis may occur in ulcerative colitis,[31] though it is more commonly associated with Crohn's disease.[32] Uveitis and iritis are more commonly associated with UC than Crohn's disease.[32] UC may cause several joint manifestations, including a type of rheumatologic disease known as seronegative arthritis, which may affect few large joints (oligoarthritis), the vertebra (ankylosing spondylitis) or several small joints of the hands and feet (peripheral arthritis).[26] Often the insertion site where muscle attaches to bone (entheses) becomes inflamed (enthesitis). Inflammation may affect the sacroiliac joint (sacroiliitis).[18] The symptoms of arthritis include joint pain, swelling, and effusion, and often leads to significant morbidity.[18] Ulcerative colitis may affect the skin. The most common type of skin manifestation, erythema nodosum, presents as raised, tender red nodules usually appearing on the shins (extensor surfaces).[32] Erythema nodosum is due to inflammation of the underlying subcutaneous tissue (panniculitis). A more severe skin manifestation, pyoderma gangrenosum, is characterized painful pustules or nodules that become ulcers which progressively grow. Whereas erythema nodosum tends correlate with the activity of the ulcerative colitis and often improves with treatment of the colonic inflammation, pyoderma gangrenosum may occur independently of UC disease activity.[26] In some cases, pyoderma gangrenosum may require injection with corticosteroids.[26] Ulcerative colitis may affect the blood and endocrine system. UC increases the risk of blood clots;[33][34][35] painful swelling of the lower legs can be a sign of deep venous thrombosis, while difficulty breathing may be a result of pulmonary embolism (blood clots in the lungs). The risk of blood clots is about three fold higher in individuals with IBD.[34] The risk of venous thromboembolism is high in ulcerative colitis due to hypercoagulability from inflammation, especially with active or extensive disease.[33] Additional risk factors may include surgery, hospitalization, pregnancy, the use of corticosteroids and tofacitinib.[33] The immune system may attack the red blood cells, leading to autoimmune hemolytic anemia. In addition to autoimmune destruction, anemia may occur due to chronic blood loss from rectal bleeding and bone marrow suppression due to inflammation (anemia of chronic disease). Osteoporosis may occur related to systemic inflammation, which increases the risk of bone fractures.[18] Clubbing, a deformity of the ends of the fingers, may occur.[18] Amyloidosis may occur, especially with severe and poorly controlled disease, which usually presents with protein in the urine (proteinuria) and nephritic syndrome.[18] ### Primary sclerosing cholangitis[edit] Ulcerative colitis has a significant association with primary sclerosing cholangitis (PSC), a progressive inflammatory disorder of small and large bile ducts. Up to 70-90% of people with primary sclerosing cholangitis have ulcerative colitis.[32] As many as 5% of people with ulcerative colitis may progress to develop primary sclerosing cholangitis.[26][36] PSC is more common in men, and often onsets between 30 and 40 years of age.[26] In some cases, primary sclerosing cholangitis occurs several years before the bowel symptoms of ulcerative colitis develop.[32] PSC does not parallel the onset, extent, duration, or activity of the colonic inflammation in ulcerative colitis.[32] In addition, colectomy does not have an impact on the course of primary sclerosing cholangitis in individuals with UC.[32] PSC is associated with an increased risk of colorectal cancer and cholangiocarcinoma (bile duct cancer).[32][26] PSC is a progressive condition, and may result in cirrhosis of the liver.[26] No specific therapy has been proven to affect the long term course of PSC.[26] ## Causes[edit] Risk factors Crohn's disease Ulcerative colitis Smoking Higher risk for smokers Lower risk for smokers[19] Age Usual onset between 15 and 30 years[37] Peak incidence between 15 and 25 years Ulcerative colitis is an autoimmune disease characterized by T-cells infiltrating the colon.[38] No direct causes for UC are known, but factors such as genetics, environment, and an overactive immune system play a role.[1] UC is associated with comorbidities that produce symptoms in many areas of the body outside the digestive system. ### Genetic factors[edit] A genetic component to the cause of UC can be hypothesized based on aggregation of UC in families, variation of prevalence between different ethnicities, genetic markers and linkages.[39] In addition, the identical twin concordance rate is 10%, whereas the dizygotic twin concordance rate is only 3%.[39][40] Between 8 and 14% of people with ulcerative colitis have a family history of inflammatory bowel disease.[13] In addition, people with a first degree relative with UC have a four-fold increase in their risk of developing the disease.[13] Twelve regions of the genome may be linked to UC, including, in the order of their discovery, chromosomes 16, 12, 6, 14, 5, 19, 1, and 3,[41] but none of these loci has been consistently shown to be at fault, suggesting that the disorder is influenced by multiple genes. For example, chromosome band 1p36 is one such region thought to be linked to inflammatory bowel disease.[42] Some of the putative regions encode transporter proteins such as OCTN1 and OCTN2. Other potential regions involve cell scaffolding proteins such as the MAGUK family. Human leukocyte antigen associations may even be at work. In fact, this linkage on chromosome 6 may be the most convincing and consistent of the genetic candidates.[41] Multiple autoimmune disorders are associated with ulcerative colitis, including celiac disease,[43] psoriasis,[44] lupus erythematosus,[45] rheumatoid arthritis,[46] episcleritis, and scleritis.[30] Ulcerative colitis is also associated with acute intermittent porphyria.[47] ### Environmental factors[edit] Many hypotheses have been raised for environmental factors contributing to the pathogenesis of ulcerative colitis, including diet, breastfeeding and medications. Breastfeeding may have a protective effect in the development of ulcerative colitis.[48][49] One study of isotretinoin found a small increase in the rate of UC.[50] As the colon is exposed to many dietary substances which may encourage inflammation, dietary factors have been hypothesized to play a role in the pathogenesis of both ulcerative colitis and Crohn's disease. However, current research does not show a link between diet and the development of ulcerative colitis. Few studies have investigated such an association; one study showed no association of refined sugar on the number of people affected of ulcerative colitis.[51] High intake of unsaturated fat and vitamin B6 may enhance the risk of developing ulcerative colitis.[52] Other identified dietary factors that may influence the development and/or relapse of the disease include meat protein and alcoholic beverages.[53][54] Specifically, sulfur has been investigated as being involved in the cause of ulcerative colitis, but this is controversial.[55] Sulfur restricted diets have been investigated in people with UC and animal models of the disease. The theory of sulfur as an etiological factor is related to the gut microbiota and mucosal sulfide detoxification in addition to the diet.[56][57][58] ### Alternative theories[edit] Levels of sulfate-reducing bacteria tend to be higher in persons with ulcerative colitis, which could indicate higher levels of hydrogen sulfide in the intestine. An alternative theory suggests that the symptoms of the disease may be caused by toxic effects of the hydrogen sulfide on the cells lining the intestine.[59] Infection by mycobacterium avium, subspecies paratuberculosis, has been proposed as the ultimate cause of both ulcerative colitis and Crohn's disease.[60] ## Pathophysiology[edit] Pathophysiology Crohn's disease Ulcerative colitis Cytokine response Associated with Th17[61] Vaguely associated with Th2 An increased amount of colonic sulfate-reducing bacteria has been observed in some people with ulcerative colitis, resulting in higher concentrations of the toxic gas hydrogen sulfide. Human colonic mucosa is maintained by the colonic epithelial barrier and immune cells in the lamina propria (see intestinal mucosal barrier). N-butyrate, a short-chain fatty acid, gets oxidized through the beta oxidation pathway into carbon dioxide and ketone bodies. It has been shown that N-butyrate helps supply nutrients to this epithelial barrier. Studies have proposed that hydrogen sulfide plays a role in impairing this beta-oxidation pathway by interrupting the short chain acetyl-CoA dehydrogenase, an enzyme within the pathway. Furthermore, it has been suggested that the protective benefit of smoking in ulcerative colitis is due to the hydrogen cyanide from cigarette smoke reacting with hydrogen sulfide to produce the non-toxic isothiocyanate, thereby inhibiting sulfides from interrupting the pathway.[62] An unrelated study suggested that the sulfur contained in red meats and alcohol may lead to an increased risk of relapse for people in remission.[59] ## Diagnosis[edit] Endoscopic image of ulcerative colitis affecting the left side of the colon. The image shows confluent superficial ulceration and loss of mucosal architecture. Crohn's disease may be similar in appearance, a fact that can make diagnosing UC a challenge. H&E stain of a colonic biopsy showing a crypt abscess, a classic finding in ulcerative colitis The initial diagnostic workup for ulcerative colitis consists of a complete history and physical examination, assessment of signs and symptoms, laboratory tests and endoscopy.[63] Specific testing may include the following:[19][64] * A complete blood count is done to check for anemia; thrombocytosis, a high platelet count, is occasionally seen * Electrolyte studies and kidney function tests are done, as chronic diarrhea may be associated with hypokalemia, hypomagnesemia and kidney injury. * Liver function tests are performed to screen for bile duct involvement: primary sclerosing cholangitis. * Imaging such as x-ray or CT scan to evaluate for possible perforation or toxic megacolon * Stool culture and Clostridioides difficile stool assay to rule out infectious colitis[63] * Inflammatory markers, such as erythrocyte sedimentation rate or C-reactive protein * Lower endoscopy to evaluate the rectum and distal large intestine (sigmoidoscopy) or entire colon and end of the small intestine (colonoscopy) for ulcers and inflammation Although ulcerative colitis is a disease of unknown causation, inquiry should be made as to unusual factors believed to trigger the disease.[19] The simple clinical colitis activity index was created in 1998 and is used to assess the severity of symptoms.[65][66] ### Endoscopic[edit] Colonic pseudopolyps of a person with intractable UC, colectomy specimen The best test for diagnosis of ulcerative colitis remains endoscopy, which is examination of the internal surface of the bowel using a flexible camera. Initially, a flexible sigmoidoscopy may be completed to establish the diagnosis.[67] The physician may elect to limit the extent of the initial exam if severe colitis is encountered to minimize the risk of perforation of the colon. However, a complete colonoscopy with entry into the terminal ileum should be performed to rule out Crohn's disease, and assess extent and severity of disease.[67] Endoscopic findings in ulcerative colitis include: erythema (redness of the mucosa), friability of the mucosa, superficial ulceration, and loss of the vascular appearance of the colon. When present, ulcerations may be confluent. Pseudopolyps may be observed.[68] Ulcerative colitis is usually continuous from the rectum, with the rectum almost universally being involved. Perianal disease is rare. The degree of involvement endoscopically ranges from proctitis (rectal inflammation) to left sided colitis (extending to descending colon), to extensive colitis (extending proximal to descending colon).[14] ### Histologic[edit] Biopsy sample (H&E stain) that demonstrates marked lymphocytic infiltration (blue/purple) of the intestinal mucosa and architectural distortion of the crypts. Biopsies of the mucosa are taken during endoscopy to confirm the diagnosis of UC and differentiate it from Crohn's disease, which is managed differently clinically. Histologic findings in ulcerative colitis includes: distortion of crypt architecture, crypt abscesses, and inflammatory cells in the mucosa (lymphocytes, plasma cells, and granulocytes).[26] Unlike the transmural inflammation seen in Crohn's disease, the inflammation of ulcerative colitis is limited to the mucosa.[26] ### Laboratory tests[edit] Blood and stool tests serve primarily to assess disease severity, level of inflammation and rule out causes of infectious colitis. All individuals with suspected ulcerative colitis should have stool testing to rule out infection.[13] A complete blood count may demonstrate anemia, leukocytosis, or thrombocytosis.[13] Anemia may be caused by inflammation or bleeding. Chronic blood loss may lead to iron deficiency as a cause for anemia, particularly microcytic anemia (small red blood cells), which can be evaluated with a serum ferritin, iron, total iron-binding capacity and transferrin saturation. Anemia may be due to a complication of treatment from azathioprine, which can cause low blood counts,[69] or sulfasalazine, which can result in folate deficiency. Thiopurine metabolites (from azathioprine) and a folate level can help.[citation needed] UC may cause high levels of inflammation throughout the body, which may be quantified with serum inflammatory markers, such as CRP and ESR. However, elevated inflammatory markers are not specific for UC and elevations are commonly seen in other conditions, including infection. In addition, inflammatory markers are not uniformly elevated in people with ulcerative colitis. Twenty five percent of individuals with confirmed inflammation on endoscopic evaluation have a normal CRP level.[19] Serum albumin may also be low related to inflammation, in addition to loss of protein in the GI tract associated with bleeding and colitis. Low serum levels of vitamin D are associated with UC, although the significance of this finding is unclear.[70] Specific antibody markers may be elevated in ulcerative colitis. Specifically, perinuclear antineutrophil cytoplasmic antibodies (pANCA) are found in 70 percent of cases of UC.[19] Antibodies against Saccharomyces cerevisiae may be present, but are more often positive in Crohn's disease compared with ulcerative colitis. However, due to poor accuracy of these serolologic tests, they are not helpful in the diagnostic evaluation of possible inflammatory bowel disease.[19][26] Several stool tests may help quantify the extent of inflammation present in the colon and rectum. Fecal calprotectin is elevated in inflammatory conditions affecting the colon, and is useful in distinguishing irritable bowel syndrome (noninflammatory) from a flare in inflammatory bowel disease.[19] Fecal calprotectin is 88% sensitive and 79% specific for the diagnosis of ulcerative colitis.[19] If the fecal calprotectin is low, the likelihood of inflammatory bowel disease are less than 1 percent.[13] Lactoferrin is an additional nonspecific marker of intestinal inflammation.[71] ### Imaging[edit] Imaging tests, such as x-ray or CT scan, may be helpful in assessing for complications of ulcerative colitis, such as perforation or toxic megacolon. However, imaging is otherwise of limited use in diagnosing ulcerative colitis.[13][26] Magnetic resonance imaging (MRI) is necessary to diagnose underlying PSC.[26] ### Differential diagnosis[edit] Several conditions may present in a similar manner as ulcerative colitis, and should be excluded. Such conditions include: Crohn's disease, infectious colitis, nonsteroidal anti-inflammatory drug enteropathy, and irritable bowel syndrome. Alternate causes of colitis should be considered, such as ischemic colitis (inadequate blood flow to the colon), radiation colitis (if prior exposure to radiation therapy), or chemical colitis. Pseudomembranous colitis may occur due to Clostridioides difficile infection following administration of antibiotics. Entamoeba histolytica is a protozoan parasite that causes intestinal inflammation. A few cases have been misdiagnosed as UC with poor outcomes occurring due to the use of corticosteroids.[72] The most common disease that mimics the symptoms of ulcerative colitis is Crohn's disease, as both are inflammatory bowel diseases that can affect the colon with similar symptoms. It is important to differentiate these diseases since their courses and treatments may differ. In some cases, however, it may not be possible to tell the difference, in which case the disease is classified as indeterminate colitis.[73] Diagnostic findings Crohn's disease Ulcerative colitis Terminal ileum involvement Commonly Seldom Colon involvement Usually Always Rectum involvement Seldom Usually (95%)[19] Involvement around the anus Common[12] Seldom Bile duct involvement No increase in rate of primary sclerosing cholangitis Higher rate[74] Distribution of disease Patchy areas of inflammation (skip lesions) Continuous area of inflammation[19] Endoscopy Deep geographic and serpiginous (snake-like) ulcers Continuous ulcer Depth of inflammation May be transmural, deep into tissues[12][41] Shallow, mucosal Stenosis Common Seldom Granulomas on biopsy May have non-necrotizing non-peri-intestinal crypt granulomas[12][75][76] Non-peri-intestinal crypt granulomas not seen[77] ## Management[edit] Main article: Management of ulcerative colitis Standard treatment for ulcerative colitis depends on the extent of involvement and disease severity. The goal is to induce remission initially with medications, followed by the administration of maintenance medications to prevent a relapse. The concept of induction of remission and maintenance of remission is very important. The medications used to induce and maintain a remission somewhat overlap, but the treatments are different. Physicians first direct treatment to inducing remission, which involves relief of symptoms and mucosal healing of the colon's lining, and then longer-term treatment to maintain remission and prevent complications. Acute severe ulcerative colitis requires hospitalisation, exclusion of infections, and corticosteroids.[78] For acute stages of the disease, a low fiber diet may be recommended.[79][80] ### Medication[edit] Ulcerative colitis can be treated with a number of medications, including 5-ASA drugs such as sulfasalazine and mesalazine. Corticosteroids such as prednisone can also be used due to their immunosuppressive and short-term healing properties, but because their risks outweigh their benefits, they are not used long-term in treatment. Immunosuppressive medications such as azathioprine and biological agents such as infliximab and adalimumab are given only if people cannot achieve remission with 5-ASA and corticosteroids. Infliximab or vedolizumab are recommended in those with moderate or severe disease.[81] A formulation of budesonide was approved by the U.S. Food and Drug Administration (FDA) for treatment of active ulcerative colitis in January 2013.[82][83] In 2018, tofacitinib was approved for treatment of moderately to severely active ulcerative colitis in the United States, the first oral medication indicated for long term use in this condition.[84] The evidence on methotrexate does not show a benefit in producing remission in people with ulcerative colitis.[85] Cyclosporine is effective for severe UC[81] and tacrolimus has also shown benefits.[86][87][88][89] #### Aminosalicylates[edit] Sulfasalazine has been a major agent in the therapy of mild to moderate ulcerative colitis for over 50 years. In 1977, it was shown that 5-aminosalicylic acid (5-ASA, mesalazine/mesalamine) was the therapeutically active component in sulfasalazine.[90] Many 5-ASA drugs have been developed with the aim of delivering the active compound to the large intestine to maintain therapeutic efficacy but with reduction of the side effects associated with the sulfapyridine moiety in sulfasalazine. Oral 5-ASA drugs are particularly effective in inducing and in maintaining remission in mild to moderate ulcerative colitis.[91][92] Rectal suppository, foam or liquid enema formulations of 5-ASA are used for colitis affecting the rectum, sigmoid or descending colon, and have been shown to be effective especially when combined with oral treatment.[93] #### Biologics[edit] Biologic treatments such as the TNF inhibitors infliximab, adalimumab, and golimumab are commonly used to treat people with UC who are no longer responding to corticosteroids. Tofacitinib and vedolizumab can also produce good clinical remission and response rates in UC.[7] Biologics may be used early in treatment (step down approach), or after other treatments have failed to induce remission (step up approach); the strategy should be individualized.[94] Unlike aminosalicylates, biologics can cause serious side effects such as an increased risk of developing extra-intestinal cancers,[95] heart failure; and weakening of the immune system, resulting in a decreased ability of the immune system to clear infections and reactivation of latent infections such as tuberculosis. For this reason, people on these treatments are closely monitored and are often tested for hepatitis and tuberculosis annually.[96][97] #### Nicotine[edit] Unlike Crohn's disease, ulcerative colitis has a lesser chance of affecting smokers than non-smokers.[98][99] In select individuals with a history of previous tobacco use, resuming low dose smoking may improve signs and symptoms of active ulcerative colitis.[100] Studies using a transdermal nicotine patch have shown clinical and histological improvement.[101] In one double-blind, placebo-controlled study conducted in the United Kingdom, 48.6% of people with UC who used the nicotine patch, in conjunction with their standard treatment, showed complete resolution of symptoms. Another randomized, double-blind, placebo-controlled, single-center clinical trial conducted in the United States showed that 39% of people who used the patch showed significant improvement, versus 9% of those given a placebo.[102] However, nicotine therapy is generally not recommended due to side effects and inconsistent results.[103][104][105] #### Iron supplementation[edit] The gradual loss of blood from the gastrointestinal tract, as well as chronic inflammation, often leads to anemia, and professional guidelines suggest routinely monitoring for anemia with blood tests repeated every three months in active disease and annually in quiescent disease.[106] Adequate disease control usually improves anemia of chronic disease, but iron deficiency anemia should be treated with iron supplements. The form in which treatment is administered depends both on the severity of the anemia and on the guidelines that are followed. Some advise that parenteral iron be used first because people respond to it more quickly, it is associated with fewer gastrointestinal side effects, and it is not associated with compliance issues.[107] Others require oral iron to be used first, as people eventually respond and many will tolerate the side effects.[106][108] ### Surgery[edit] Management Crohn's disease Ulcerative colitis Mesalazine Less useful[109] More useful[109] Antibiotics Effective in long-term[110] Generally not useful[111] Surgery Often returns following removal of affected part Usually cured by removal of colon Unlike in Crohn's disease, the gastrointestinal aspects of ulcerative colitis can generally be cured by surgical removal of the large intestine, though extraintestinal symptoms may persist. This procedure is necessary in the event of: exsanguinating hemorrhage, frank perforation, or documented or strongly suspected carcinoma. Surgery is also indicated for people with severe colitis or toxic megacolon. People with symptoms that are disabling and do not respond to drugs may wish to consider whether surgery would improve the quality of life.[14] The removal of the entire large intestine, known as a proctocolectomy, results in a permanent ileostomy – where a stoma is created by pulling the terminal ileum through the abdomen. Intestinal contents are emptied into a removable ostomy bag which is secured around the stoma using adhesive.[112] Another surgical option for ulcerative colitis that is affecting most of the large bowel is called the ileal pouch-anal anastomosis (IPAA). This is a two- or three-step procedure. In a three-step procedure, the first surgery is a sub-total colectomy, in which the large bowel is removed, but the rectum remains in situ, and a temporary ileostomy is made. The second step is a proctecomy and formation of the ileal pouch (commonly known as a "j-pouch"). This involves removing the large majority of the remaining rectal stump and creating a new "rectum" by fashioning the end of the small intestine into a pouch and attaching it to the anus. After this procedure, a new type of ileostomy is created (known as a loop ileostomy) to allow the anastomoses to heal. The final surgery is a take-down procedure where the ileostomy is reversed and there is no longer the need for an ostomy bag. When done in two steps, a proctocolectomy – removing both the colon and rectum – is performed alongside the pouch formation and loop ileostomy. The final step is the same take-down surgery as in the three-step procedure. Time taken between each step can vary, but typically a six- to twelve-month interval is recommended between the first two steps, and a minimum of two to three months is required between the formation of the pouch and the ileostomy take-down.[14] While the ileal pouch procedure removes the need for an ostomy bag, it does not restore normal bowel function. In the months following the final operation, patients typically experience 8–15 bowel movements a day. Over time this number decreases, with many patients reporting four-six bowel movements after one year post-op. While many patients have success with this procedure, there are a number of known complications. Pouchitis, inflammation of the ileal pouch resulting in symptoms similar to ulcerative colitis, is relatively common. Pouchitis can be acute, remitting, or chronic however treatment using antibiotics, steroids, or biologics can be highly effective. Other complications include fistulas, abbesses, and pouch failure. Depending on the severity of the condition, pouch revision surgery may need to be performed. In some cased the pouch may need to be de-functioned or removed and an ileostomy recreated.[113][114] The risk of cancer arising from a ileal pouch anal anastaomosis is low.[115] However, annual surveillance with pouchoscopy may be considered in individuals with risk factors for dysplasia, such as a history of dysplasia or colorectal cancer, a history of PSC, refractory pouchitis, and severely inflamed atrophic pouch mucosa.[115] ### Bacterial recolonization[edit] In a number of randomized clinical trials, probiotics have demonstrated the potential to be helpful in the treatment of ulcerative colitis. Specific types of probiotics such as Escherichia coli Nissle have been shown to induce remission in some people for up to a year.[116] A probiotic called VSL#3 may be effective in inducing remission in active ulcerative colitis, and may may be as effective as 5-ASAs in preventing relapse of quiescent UC.[117] Fecal microbiota transplant involves the infusion of human probiotics through fecal enemas. Ulcerative colitis typically requires a more prolonged bacteriotherapy treatment than Clostridium difficile infection to be successful, possibly due to the time needed to heal the ulcerated epithelium. The response of ulcerative colitis is potentially very favorable with one study reporting 67.7% of sufferers experiencing complete remission.[118] Other studies found a benefit from using fecal microbiota transplantation.[119][120][121] ### Alternative medicine[edit] A variety of alternative medicine therapies have been used for ulcerative colitis, with inconsistent results. Curcumin (turmeric) therapy, in conjunction with taking the medications mesalamine or sulfasalazine, may be effective and safe for maintaining remission in people with quiescent ulcerative colitis.[122][123] The effect of curcumin therapy alone on quiescent ulcerative colitis is unknown.[123] ## Prognosis[edit] Poor prognostic factors include: age < 40 years upon diagnosis, extensive colitis, severe colitis on endoscopy, prior hospitalization, elevated CRP and low serum albumin.[19] ### Progression or remission[edit] People with ulcerative colitis usually have an intermittent course, with periods of disease inactivity alternating with "flares" of disease. People with proctitis or left-sided colitis usually have a more benign course: only 15% progress proximally with their disease, and up to 20% can have sustained remission in the absence of any therapy. A subset of people experience a course of disease progress rapidly. In these cases, there is usually a failure to respond to medication and surgery often is performed within the first few years of disease onset.[124][125] People with more extensive disease are less likely to sustain remission, but the rate of remission is independent of the severity of the disease.[126] Several risk factors are associated with eventual need for colectomy, including: prior hospitalization for UC, extensive colitis, need for systemic steroids, young age at diagnosis, low serum albumin, elevated inflammatory markers (CRP & ESR), and severe inflammation seen during colonoscopy.[81][19] Surgical removal of the large intestine is necessary in some cases.[19] ### Colorectal cancer[edit] The risk of colorectal cancer is significantly increased in people with ulcerative colitis after ten years if involvement is beyond the splenic flexure. People with backwash ileitis might have an increased risk for colorectal carcinoma.[127] Those people with only proctitis usually have no increased risk.[19] It is recommended that people have screening colonoscopies with random biopsies to look for dysplasia after eight years of disease activity, at one to two year intervals.[128] ### Mortality[edit] People with ulcerative colitis are at similar[129] or perhaps slightly increased overall risk of death compared with the background population.[130] However, the distribution of causes-of-death differs from the general population.[129] Specific risk factors may predict worse outcomes and a higher risk of mortality in people with ulcerative colitis, including: C. difficile infection[19] and cytomegalovirus infection (due to reactivation).[131] ## History[edit] The first description of ulcerative colitis occurred around the 1850s.[8] ## Epidemiology[edit] Together with Crohn's disease, about 11.2 million people were affected as of 2015[update].[9] Each year, ulcerative colitis newly occurs in 1 to 20 per 100,000 people (incidence), and there are a total of 5-500 per 100,000 individuals with the disease (prevalence).[6][8] In 2015, a worldwide total of 47,400 people died due to inflammatory bowel disease (UC and Crohn's disease).[5] The peak onset is between 30 and 40 years of age,[13] with a second peak of onset occurring in the 6th decade of life.[132] Ulcerative colitis is equally common among men and women.[13][6] With appropriate treatment the risk of death appears the similar as that of the general population.[2] UC has become more common since the 1950s.[6][8] The geographic distribution of UC and Crohn's disease is similar worldwide,[133] with the highest number of new cases a year of UC found in Canada, New Zealand and the United Kingdom.[134] The disease is more common in North America and Europe than other regions.[8] In general, higher rates are seen in northern locations compared to southern locations in Europe[135] and the United States.[136] UC is more common in western Europe compared with eastern Europe.[137] Worldwide, the prevalence of UC varies from 2 - 299 per 100,000 people.[4] Together, ulcerative colitis and Crohn's disease affect about a million people in the United States.[10] As with Crohn's disease, the rates of UC are greater among Ashkenazi Jews and decreases progressively in other persons of Jewish descent, non-Jewish Caucasians, Africans, Hispanics, and Asians.[22] Appendectomy prior to age 20 for appendicitis[138] and current tobacco use[139] are protective against development of UC.[13] However, former tobacco use is associated with a higher risk of developing the disease.[139][13] ### United States[edit] As of 2004[update], the number of new cases of UC in the United States was between 2.2 and 14.3 per 100,000 per year.[140] The number of people affected in the United States is[when?] between 37 and 246 per 100,000.[140] ### Canada[edit] In Canada, between 1998 and 2000, the number of new cases per year was 12.9 per 100,000 population or 4,500 new cases. The number of people affected was estimated to be 211 per 100,000 or 104,000.[141] ### United Kingdom[edit] In the United Kingdom 10 per 100,000 people newly develop the condition a year while the number of people affected is 243 per 100,000. Approximately 146,000 people in the United Kingdom have been diagnosed with UC.[142] ## Research[edit] Helminthic therapy using the whipworm Trichuris suis has been shown in a randomized control trial from Iowa to show benefit in people with ulcerative colitis.[143] The therapy tests the hygiene hypothesis which argues that the absence of helminths in the colons of people in the developed world may lead to inflammation. Both helminthic therapy and fecal microbiota transplant induce a characteristic Th2 white cell response in the diseased areas, which was unexpected given that ulcerative colitis was thought to involve Th2 overproduction.[143] Alicaforsen is a first generation antisense oligodeoxynucleotide designed to bind specifically to the human ICAM-1 messenger RNA through Watson-Crick base pair interactions in order to subdue expression of ICAM-1.[144] ICAM-1 propagates an inflammatory response promoting the extravasation and activation of leukocytes (white blood cells) into inflamed tissue.[144] Increased expression of ICAM-1 has been observed within the inflamed intestinal mucosa of ulcerative colitis sufferers, where ICAM-1 over production correlated with disease activity.[145] This suggests that ICAM-1 is a potential therapeutic target in the treatment of ulcerative colitis.[146] Gram positive bacteria present in the lumen could be associated with extending the time of relapse for ulcerative colitis.[147] A series of drugs in development looks to disrupt the inflammation process by selectively targeting an ion channel in the inflammation signaling cascade known as KCa3.1.[148] In a preclinical study in rats and mice, inhibition of KCa3.1 disrupted the production of Th1 cytokines IL-2 and TNF-∝ and decreased colon inflammation as effectively as sulfasalazine.[148] Neutrophil extracellular traps[149] and the resulting degradation of the extracellular matrix[150] have been reported in the colon mucosa in ulcerative colitis patients in clinical remission, indicating the involvement of the innate immune system in the etiology.[149] Fexofenadine, an antihistamine drug used in treatment of allergies, has shown promise in a combination therapy in some studies.[151][152] Opportunely, low gastrointestinal absorption (or high absorbed drug gastrointestinal secretion) of fexofenadine results in higher concentration at the site of inflammation. Thus, the drug may locally decrease histamine secretion by involved gastrointestinal mast cells and alleviate the inflammation.[152] There is evidence that etrolizumab is effective for ulcerative colitis, with phase 3 trials underway as of 2016.[7][153][154][155] Etrolizumab is a humanized monoclonal antibody that targets he β7 subunit of integrins α4β7 and αEβ7. Etrolizumab decreases lymphocytes trafficking, similar to vedolizumab (another integrin antagonist). A type of leukocyte apheresis, known as granulocyte and monocyte adsorptive apheresis, still requires large-scale trials to determine whether or not it is effective.[156] Results from small trials have been tentatively positive.[157] ## Notable cases[edit] Main article: List of people diagnosed with ulcerative colitis ## References[edit] 1. ^ a b c d e f g h i j k l m n o p q r s t u v w x "Ulcerative Colitis". NIDDK. September 2014. Retrieved 3 August 2016. 2. ^ a b c d Wanderås MH, Moum BA, Høivik ML, Hovde Ø (May 2016). "Predictive factors for a severe clinical course in ulcerative colitis: Results from population-based studies". World Journal of Gastrointestinal Pharmacology and Therapeutics. 7 (2): 235–41. doi:10.4292/wjgpt.v7.i2.235. PMC 4848246. PMID 27158539. 3. ^ Runge MS, Greganti MA (2008). Netter's Internal Medicine E-Book. Elsevier Health Sciences. p. 428. ISBN 9781437727722. 4. ^ a b Molodecky NA, Soon IS, Rabi DM, Ghali WA, Ferris M, Chernoff G, et al. (January 2012). "Increasing incidence and prevalence of the inflammatory bowel diseases with time, based on systematic review". Gastroenterology. 142 (1): 46–54.e42, quiz e30. doi:10.1053/j.gastro.2011.10.001. PMID 22001864. 5. ^ a b Wang, Haidong; Naghavi, Mohsen; Allen, Christine; Barber, Ryan M.; Bhutta, Zulfiqar A.; Carter, Austin; Casey, Daniel C.; Charlson, Fiona J.; Chen, Alan Zian; Coates, Matthew M.; Coggeshall, Megan; Dandona, Lalit; Dicker, Daniel J.; Erskine, Holly E.; Ferrari, Alize J.; Fitzmaurice, Christina; Foreman, Kyle; Forouzanfar, Mohammad H.; Fraser, Maya S.; Fullman, Nancy; Gething, Peter W.; Goldberg, Ellen M.; Graetz, Nicholas; Haagsma, Juanita A.; Hay, Simon I.; Huynh, Chantal; Johnson, Catherine O.; Kassebaum, Nicholas J.; Kinfu, Yohannes; et al. (GBD 2015 Mortality and Causes of Death Collaborators) (October 2016). "Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015". Lancet. 388 (10053): 1459–1544. doi:10.1016/s0140-6736(16)31012-1. PMC 5388903. 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Transfusion and Apheresis Science. 43 (2): 227–9. doi:10.1016/j.transci.2010.07.023. PMID 20817610. ## Further reading[edit] * Rubin DT, Ananthakrishnan AN, Siegel CA, Sauer BG, Long MD (March 2019). "ACG Clinical Guideline: Ulcerative Colitis in Adults". The American Journal of Gastroenterology. 114 (3): 384–413. doi:10.14309/ajg.0000000000000152. PMID 30840605. S2CID 73473272. * Torpy JM, Lynm C, Golub RM (January 2012). "JAMA patient page. Ulcerative colitis". JAMA. 307 (1): 104. doi:10.1001/jama.2011.1889. PMID 22215172. ## External links[edit] Classification D * ICD-10: K51 * ICD-9-CM: 556 * OMIM: 191390 * MeSH: D003093 * DiseasesDB: 13495 External resources * MedlinePlus: 000250 * eMedicine: med/2336 * Patient UK: Ulcerative colitis * MedlinePlus ulcerative colitis page * v * t * e Diseases of the digestive system Upper GI tract Esophagus * Esophagitis * Candidal * Eosinophilic * Herpetiform * Rupture * Boerhaave syndrome * Mallory–Weiss syndrome * UES * Zenker's diverticulum * LES * Barrett's esophagus * Esophageal motility disorder * Nutcracker esophagus * Achalasia * Diffuse esophageal spasm * Gastroesophageal reflux disease (GERD) * Laryngopharyngeal reflux (LPR) * Esophageal stricture * Megaesophagus * Esophageal intramural pseudodiverticulosis Stomach * Gastritis * Atrophic * Ménétrier's disease * Gastroenteritis * Peptic (gastric) ulcer * Cushing ulcer * Dieulafoy's lesion * Dyspepsia * Pyloric stenosis * Achlorhydria * Gastroparesis * Gastroptosis * Portal hypertensive gastropathy * Gastric antral vascular ectasia * Gastric dumping syndrome * Gastric volvulus * Buried bumper syndrome * Gastrinoma * Zollinger–Ellison syndrome Lower GI tract Enteropathy Small intestine (Duodenum/Jejunum/Ileum) * Enteritis * Duodenitis * Jejunitis * Ileitis * Peptic (duodenal) ulcer * Curling's ulcer * Malabsorption: Coeliac * Tropical sprue * Blind loop syndrome * Small bowel bacterial overgrowth syndrome * Whipple's * Short bowel syndrome * Steatorrhea * Milroy disease * Bile acid malabsorption Large intestine (Appendix/Colon) * Appendicitis * Colitis * Pseudomembranous * Ulcerative * Ischemic * Microscopic * Collagenous * Lymphocytic * Functional colonic disease * IBS * Intestinal pseudoobstruction / Ogilvie syndrome * Megacolon / Toxic megacolon * Diverticulitis/Diverticulosis/SCAD Large and/or small * Enterocolitis * Necrotizing * Gastroenterocolitis * IBD * Crohn's disease * Vascular: Abdominal angina * Mesenteric ischemia * Angiodysplasia * Bowel obstruction: Ileus * Intussusception * Volvulus * Fecal impaction * Constipation * Diarrhea * Infectious * Intestinal adhesions Rectum * Proctitis * Radiation proctitis * Proctalgia fugax * Rectal prolapse * Anismus Anal canal * Anal fissure/Anal fistula * Anal abscess * Hemorrhoid * Anal dysplasia * Pruritus ani GI bleeding * Blood in stool * Upper * Hematemesis * Melena * Lower * Hematochezia Accessory Liver * Hepatitis * Viral hepatitis * Autoimmune hepatitis * Alcoholic hepatitis * Cirrhosis * PBC * Fatty liver * NASH * Vascular * Budd–Chiari syndrome * Hepatic veno-occlusive disease * Portal hypertension * Nutmeg liver * Alcoholic liver disease * Liver failure * Hepatic encephalopathy * Acute liver failure * Liver abscess * Pyogenic * Amoebic * Hepatorenal syndrome * Peliosis hepatis * Metabolic disorders * Wilson's disease * Hemochromatosis Gallbladder * Cholecystitis * Gallstone / Cholelithiasis * Cholesterolosis * Adenomyomatosis * Postcholecystectomy syndrome * Porcelain gallbladder Bile duct/ Other biliary tree * Cholangitis * Primary sclerosing cholangitis * Secondary sclerosing cholangitis * Ascending * Cholestasis/Mirizzi's syndrome * Biliary fistula * Haemobilia * Common bile duct * Choledocholithiasis * Biliary dyskinesia * Sphincter of Oddi dysfunction Pancreatic * Pancreatitis * Acute * Chronic * Hereditary * Pancreatic abscess * Pancreatic pseudocyst * Exocrine pancreatic insufficiency * Pancreatic fistula Other Hernia * Diaphragmatic * Congenital * Hiatus * Inguinal * Indirect * Direct * Umbilical * Femoral * Obturator * Spigelian * Lumbar * Petit's * Grynfeltt-Lesshaft * Undefined location * Incisional * Internal hernia * Richter's Peritoneal * Peritonitis * Spontaneous bacterial peritonitis * Hemoperitoneum * Pneumoperitoneum * v * t * e Inflammatory bowel disease: Crohn's disease and ulcerative colitis Main * Crohn's Disease Activity Index * Treatment * Biological therapy * Crohn's disease Complications * Abdominal pain * Anal abscess * Erythema nodosum * Fistula * Granuloma * Ileum * Ileitis * Malabsorption * Proctitis * Protein losing enteropathy * Pyoderma gangrenosum * Sacroiliitis * Short bowel syndrome * Small bowel obstruction * Stenosis History * Giovanni Battista Morgagni * Burrill Bernard Crohn Organizations * Crohn's and Colitis Foundation of America * Digestive Disorders Foundation * National Society for Colitis and Crohn's Disease * Crohn's and Colitis Canada People * List of people diagnosed with Crohn's disease * List of people diagnosed with ulcerative colitis * Deaths from Crohn's disease Authority control * LCCN: sh85139426 * NDL: 00564684 * NSK: 000015465 [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 inhibitors [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-aminobutyric 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	Ulcerative colitis	c0009324	27,690	wikipedia	https://en.wikipedia.org/wiki/Ulcerative_colitis	2021-01-18T18:29:26	{"mesh": ["D003093"], "umls": ["C0375359", "C0009324"], "orphanet": ["771"], "wikidata": ["Q1477"]}
Paroxysmal nonkinesigenic dyskinesia (PNKD) is a disorder of the nervous system that causes periods of involuntary movement. Common symptoms include irregular, jerking or shaking movements, prolonged contraction of muscles, chorea, and/or writhing movements of the limb. Symptoms usually last between 1 and 4 hours. The movements may have no known trigger or be brought on by alcohol, caffeine, stress, fatigue, menses, or excitement. The familial form is caused by mutations in the PNKD gene and is inherited in an autosomal dominant pattern. Treatment might involve the use of antiseizure medications such as Clonazepam and avoidance of triggers. [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 inhibitors [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-aminobutyric 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	Paroxysomal nonkinesigenic dyskinesia	c1869117	27,691	gard	https://rarediseases.info.nih.gov/diseases/8722/paroxysomal-nonkinesigenic-dyskinesia	2021-01-18T17:58:25	{"omim": ["118800"], "orphanet": ["98810"], "synonyms": ["DYT-MR-1"]}
Biliary pseudolithiasis Mass-like sludge in common bile duct (A) and the gallbladder (B) in a neonate who received ceftriaxone Biliary pseudolithiasis is an unusual complication of ceftriaxone where the drug complexes with calcium and mimics gallstones.[1][2] It is reversed when ceftriaxone administration is stopped.[2] It was first described in 1988 by Schaad et al. as "reversible ceftriaxone-associated biliary pseudolithiasis".[2] ## See also[edit] * Biliary sludge ## References[edit] 1. ^ Kirejczyk, W. M.; Crowe, H. M.; MacKay, I. M.; Quintiliani, R; Cronin, E. B. (1992). "Disappearing "gallstones": Biliary pseudolithiasis complicating ceftriaxone therapy". American Journal of Roentgenology. 159 (2): 329–30. doi:10.2214/ajr.159.2.1632349. PMID 1632349. 2. ^ a b c Schaad, U. B.; Wedgwood-Krucko, J; Tschaeppeler, H (1988). "Reversible ceftriaxone-associated biliary pseudolithiasis in children". Lancet. 2 (8625): 1411–3. doi:10.1016/s0140-6736(88)90596-x. PMID 2904533. S2CID 20383363. 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 inhibitors [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-aminobutyric 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	Biliary pseudolithiasis	None	27,692	wikipedia	https://en.wikipedia.org/wiki/Biliary_pseudolithiasis	2021-01-18T18:37:34	{"wikidata": ["Q19596047"]}
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled. In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide. Other abnormalities of the blood vessels in the lungs also occur in ACD/MPV. The veins that carry blood from the lungs into the heart (pulmonary veins) are improperly positioned and may be abnormally bundled together with arteries that carry blood from the heart to the lungs (pulmonary arteries). The muscle tissue in the walls of the pulmonary arteries may be overgrown, resulting in thicker artery walls and a narrower channel. These changes restrict normal blood flow, which causes high blood pressure in the pulmonary arteries (pulmonary hypertension) and requires the heart to pump harder. Most infants with ACD/MPV are born with additional abnormalities. These may include abnormal twisting (malrotation) of the large intestine or other malformations of the gastrointestinal tract. Cardiovascular and genitourinary abnormalities are also common in affected individuals. Infants with ACD/MPV typically develop respiratory distress within a few minutes to a few hours after birth. They experience shortness of breath and cyanosis, which is a bluish appearance of the skin, mucous membranes, or the area underneath the fingernails caused by a lack of oxygen in the blood. Without lung transplantation, infants with ACD/MPV have not been known to survive past one year of age, and most affected infants live only a few weeks. ## Frequency ACD/MPV is a rare disorder; its incidence is unknown. Approximately 200 infants with this disorder have been identified worldwide. ## Causes ACD/MPV can be caused by mutations in the FOXF1 gene. The protein produced from the FOXF1 gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of many other genes. The FOXF1 protein is important in development of the lungs and their blood vessels. The FOXF1 protein is also involved in the development of the gastrointestinal tract. Mutations in the FOXF1 gene that cause ACD/MPV result in an inactive protein that cannot regulate development, leading to abnormal formation of the pulmonary blood vessels and gastrointestinal tract. ACD/MPV can also be caused by a deletion of genetic material on the long arm of chromosome 16 in a region known as 16q24.1. This region includes several genes, including the FOXF1 gene. Deletion of one copy of the FOXF1 gene in each cell reduces the production of the FOXF1 protein. A shortage of FOXF1 protein affects the development of pulmonary blood vessels and causes the main features of ACD/MPV. Researchers suggest that the loss of other genes in this region probably causes the additional abnormalities, such as heart defects, seen in some infants with this disorder. Like FOXF1, these genes also provide instructions for making transcription factors that regulate development of various body systems before birth. In about 60 percent of affected infants, the genetic cause of ACD/MPV is unknown. ### Learn more about the gene and chromosome associated with Alveolar capillary dysplasia with misalignment of pulmonary veins * FOXF1 * chromosome 16 ## Inheritance Pattern ACD/MPV is usually not inherited, and most affected people have no history of the disorder in their family. The genetic changes associated with this condition usually occur during the formation of reproductive cells (eggs and sperm) or in early fetal development. When the condition is caused by a FOXF1 gene mutation or deletion, one altered or missing gene in each cell is sufficient to cause the disorder. Individuals with ACD/MPV do not pass the genetic change on to their children because they do not live long enough to reproduce. A few families have been identified in which more than one sibling has ACD/MPV. It is not clear how ACD/MPV is inherited in these families because no genetic changes have been identified. [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 inhibitors [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-aminobutyric 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	Alveolar capillary dysplasia with misalignment of pulmonary veins	c0031190	27,693	medlineplus	https://medlineplus.gov/genetics/condition/alveolar-capillary-dysplasia-with-misalignment-of-pulmonary-veins/	2021-01-27T08:25:04	{"gard": ["8644"], "mesh": ["D010547"], "omim": ["265380"], "synonyms": []}
Familial spontaneous pneumothorax is a rare, genetic pulmonary disease characterized by the uni- or bilateral accumulation of air in the pleural cavity in persons with a positive family history and no underlying lung disease or previous chest trauma. Patients typically present dyspnea associated with acute onset of sharp and steady pleutiric chest pain of variable severity (which resolves within 24h even though pneumothorax is still present). Reflex tachycardia and/or respiratory or circulatory compromise may be observed. Other syndromes (e.g. Birt-Hogg-Dube, Marfan or Ehlers-Danlos syndromes) may be 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 inhibitors [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-aminobutyric 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	Familial spontaneous pneumothorax	c1868193	27,694	orphanet	https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2903	2021-01-23T18:42:19	{"mesh": ["C566795"], "omim": ["173600"], "icd-10": ["J93.1"]}
This article needs more medical references for verification or relies too heavily on primary sources. Please review the contents of the article and add the appropriate references if you can. Unsourced or poorly sourced material may be challenged and removed. Find sources: "Metallosis" – news · newspapers · books · scholar · JSTOR (August 2012) Metallosis is the putative medical condition involving deposition and build-up of metal debris in the soft tissues of the body. [1] Metallosis has been known to occur when metallic components in medical implants, specifically joint replacements, abrade against one another.[1] Metallosis has also been observed in some patients either sensitive to the implant or for unknown reasons even in the absence of malpositioned prosthesis. Though rare, metallosis has been observed at an estimated incidence of 5% of metal joint implant patients over the last 40 years. Women may be at slightly higher risk than men. If metallosis occurs, it may involve the hip and knee joints, the shoulder,[2] wrist,[3] elbow joints, [4] or spine. [5] In the spine, the wear debris and resulting inflammatory reaction may result in a mass often referred to as a "metalloma" in medical literature, which may lead to neurological impairment over time. [6] [7] The abrasion of metal components may cause metal ions to be solubilized. The hypothesis that the immune system identifies the metal ions as foreign bodies and inflames the area around the debris may be incorrect because of the small size of metal ions may prevent them from becoming haptens. [1] Poisoning from metallosis is rare, but cobaltism is an established health concern. The involvement of the immune system in this putative condition has also been theorized but has never been proven. [8] Purported symptoms of metallosis generally include pain around the site of the implant, pseudotumors (a mass of inflamed cells that resembles a tumor but is actually collected fluids), and a noticeable rash that indicates necrosis. [1] The damaged and inflamed tissue can also contribute to loosening the implant or medical device. Metallosis can cause dislocation of non-cemented implants as the healthy tissue that would normally hold the implant in place is weakened or destroyed.[9] Metallosis has been demonstrated to cause osteolysis.[10] Women, those who are small in stature, and the obese are at greater risk for metallosis because their body structure causes more tension on the implant, quickening the abrasion of the metal components and the subsequent build-up of metallic debris. ## Contents * 1 Physical effects and symptoms * 1.1 Complications * 2 DePuy hip replacement recall * 3 References ## Physical effects and symptoms[edit] Persons suffering from metallosis can experience any of the following symptoms: * Extreme pain (even when not moving); * Swelling and inflammation;[11] * Loosening of the implant; * joint Dislocation; * Bone deterioration; * Aseptic fibrosis, local necrosis;[12][11] * Hip replacement failure; * Metal toxicity from grinding metal components; and * Necessary subsequent hip replacement revision or surgeries. ### Complications[edit] As the grinding components cause metal flakes to shed from the system, the implant wears down. Metallosis results in numerous additional side effects: * Confusion; * Feelings of malaise; * Gastrointestinal problems; * Dizziness; * Headaches; * Problems in the nervous system (feelings of burning, tingling, or numbness of the extremities); and * Cobalt poisoning (skin rashes, cardiomyopathy, problems with hearing, sight or cognition, tremors, and hypothyroidism). ## DePuy hip replacement recall[edit] Main article: 2010 DePuy Hip Recall In August 2010, DePuy recalled its hip replacement systems ASR XL Acetabular Hip Replacement System and ASR Hip Resurfacing System due to failure rates and side effects including metallosis. The recalls triggered a large number of lawsuits against DePuy and its parent company Johnson & Johnson upon claims that the companies knew about the dangers of the implants before they went on the market in the United States. ## References[edit] 1. ^ a b c d Romesburg, Jason W; Wasserman, Paul L; Schoppe, Candace H (2010). "Metallosis and Metal-Induced Synovitis Following Total Knee Arthroplasty: Review of Radiographic and CT Findings". Journal of Radiology Case Reports. 4 (9): 7–17. doi:10.3941/jrcr.v4i9.423. ISSN 1943-0922. PMC 3303397. PMID 22470753. 2. ^ Cofield, Robert H. (Oct 1994). "Uncemented Total Shoulder Arthroplasty: A Review". Clinical Orthopaedics and Related Research. 307 (307): 86–93. PMID 7924051. Retrieved 9 July 2017. 3. ^ Groot, Diederik; Gosens, Taco; Leeuwen, Niels C.M.v.; Rhee, Marina v.; Teepen, Hans J.L.J.M. (2006). "Wear-Induced Osteolysis and Synovial Swelling in a Patient With a Metal–Polyethylene Wrist Prosthesis". The Journal of Hand Surgery. 31 (10): 1615–1618. doi:10.1016/j.jhsa.2006.09.009. ISSN 0363-5023. PMID 17145381. Retrieved 9 July 2017. 4. ^ Kudo, Hiroshi; Iwano, Kunio; Nishino, Junki (1994). "Cementless or hybrid total elbow arthroplasty with titanium-alloy implants". The Journal of Arthroplasty. 9 (3): 269–278. doi:10.1016/0883-5403(94)90081-7. ISSN 0883-5403. PMID 8077975. Retrieved 9 July 2017. 5. ^ Goldenberg Y, Tee JW, Salinas-La Rosa CM, Murphy M (May 2016). "Spinal metallosis: a systematic review". European Spine Journal. 25 (5): 1467–1473. doi:10.1007/s00586-015-4347-6. PMID 26733018. S2CID 704954.CS1 maint: uses authors parameter (link) 6. ^ Tezer M, Kuzgun U, Hamzaoglu A, Ozturk C, Kabukcuoglu F, Sirvanci M (July 2005). "Intraspinal metalloma resulting in late paraparesis". Archives of Orthopaedic and Trauma Surgery. 125 (6): 417–421. doi:10.1007/s00402-005-0802-x. PMID 16034644. S2CID 35085426.CS1 maint: uses authors parameter (link) 7. ^ Fernandez-Baillo N, Sanchez-Marquez JM, Conde Gallego E, Martin Estaban A (2012). "Intraspinal metalloma causing lumbar stenosis after interbody fusion with cylindrical titanium cages" (PDF). Acta Orthop Belg. 78 (6): 811–814. PMID 23409582. Archived from the original (PDF) on 30 June 2014. Retrieved 23 October 2018.CS1 maint: uses authors parameter (link) 8. ^ Weissman, B N; Scott, R D; Brick, G W; Corson, J M (1991). "Radiographic detection of metal-induced synovitis as a complication of arthroplasty of the knee". The Journal of Bone and Joint Surgery. 73 (7): 1002–1007. doi:10.2106/00004623-199173070-00006. ISSN 0021-9355. PMID 1874762. 9. ^ Sathappan, Sathappan S.; Wee, James; Ginat, Daniel; Meere, Patrick (2009). "Massive Wear and Metallosis of an Acetabular Cup System Presenting as Pseudodislocation". Orthopedics. 32 (6): 449–452. doi:10.3928/01477447-20090511-23. ISSN 0147-7447. PMID 19634809. 10. ^ Chang, Jun-Dong; Lee, Sang-Soo; Hur, Mina; Seo, Eun-Min; Chung, Yung-Khee; Lee, Chang-Ju (2005). "Revision Total Hip Arthroplasty in Hip Joints With Metallosis". The Journal of Arthroplasty. 20 (5): 568–573. doi:10.1016/j.arth.2005.04.001. ISSN 0883-5403. PMID 16309990. Retrieved 9 July 2017. 11. ^ a b S.k, Hemalatha; B.k, Madathil; J, Joseph; S, Sanchit Patnaik; M, Agarwal; M, Mohanty; A, Sabareeswaran. "Modulatory effect of mast cells in the pathology of peri-prosthetic fibrosis around a retrieved knee implant". Clinical Cases in Mineral and Bone Metabolism. XVI (1): 83–87. ISSN 1724-8914. 12. ^ Metallosis of the Resurfaced Hip, Dr.James Pritchett, MD [Page 8 of PDF] [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 inhibitors [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-aminobutyric 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	Metallosis	c0271000	27,695	wikipedia	https://en.wikipedia.org/wiki/Metallosis	2021-01-18T18:51:08	{"wikidata": ["Q15431667"]}
Hachiya et al. (1995) noted that the import of many proteins into mitochondria is initiated by the interaction of the amino-terminal targeting sequence with mitochondrial import-stimulating factor (MSF), which selectively binds mitochondrial precursor proteins. This interaction causes MSF to hydrolyze ATP. The MSF-precursor complex can bind to outer membrane vesicles from rat liver mitochondria with concomitant inhibition of ATPase activity. Hachiya et al. (1995) identified the mitochondrial proteins that recognized the MSF-bound precursor in yeast. They reconstituted the initial steps of yeast mitochondrial protein import with a purified precursor protein, a purified ATP-dependent cytosolic chaperone selective for mitochondrial precursors, namely MSF, and either intact mitochondria or intact or solubilized mitochondrial outer membranes. They showed that the precursor-MSF complex first binds to the Mas37p/Mas70p subunits of the mitochondrial import receptor. After ATP-dependent release of MSF, the precursor is transferred from Mas37p/Mas70p to the Mas20p (601848)/Mas22p subunits of the receptor, and finally delivered to the import channel in the outer membrane. The import in the absence of the MSF bypasses Mas37p/Mas70p. Hachiya et al. (1995) stated that the ATP-mediated transfer of a precursor from MSF to specific subunits of the import receptor is similar to the GTP-mediated transfer of precursors from the signal recognition particle to its receptor on the endoplasmic reticulum. [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 inhibitors [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-aminobutyric 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	MITOCHONDRIAL IMPORT-STIMULATING FACTOR	None	27,696	omim	https://www.omim.org/entry/600851	2019-09-22T16:15:45	{"omim": ["600851"], "synonyms": ["Alternative titles", "MSF"]}
A number sign (#) is used with this entry because of evidence that Yuan-Harel-Lupski syndrome (YUHAL) is caused by a contiguous gene duplication of chromosome 17p12-p11.2, including the PMP22 (601097) and RAI1 (607642) genes. Description Yuan-Harel-Lupski syndrome is a complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. The disorder comprises features of both demyelinating Charcot-Marie-Tooth disease type 1A (CMT1A; 118220), which results from duplication of the PMP22 gene on 17p12, and Potocki-Lupski syndrome (PTLS; 610883), which results from duplication of a slightly proximal region on 17p11.2 that includes the RAI1 gene. These 2 loci are about 2.5 Mb apart. The resultant YUHAL phenotype may be more severe in comparison to the individual contributions of each gene, with particularly early onset of peripheral neuropathy and features of both central and peripheral nervous system involvement (summary by Yuan et al., 2015). Clinical Features Yuan et al. (2015) reported 23 unrelated patients with contiguous gene duplications encompassing the PMP22 and RAI1 genes. Some clinical information was available for 17 patients who ranged in age from 11 months to 13 years, although 1 individual was 33 years old. Ten patients had previously been reported (see, e.g., Doco-Fenzy et al., 2008; Shaw et al., 2004; Balarin et al., 1999; Vissers et al., 2007). Many features were not assessed or not reported in some individuals. Most patients had feeding difficulties, hypotonia, and failure to thrive in infancy, and all had global developmental delay with delayed walking, speech delay, and behavioral difficulties. Dysmorphic features, variably present in about half of patients, included triangular face, downslanting palpebral fissures, strabismus, broad nose, smooth or long philtrum, thin upper lip, and abnormal ears. In addition to hypotonia, 9 individuals presented with clinical neuropathy by age 10, 6 of whom were younger than age 5. The neuropathy was associated with weakness and atrophy of the distal extremities resulting in unsteady or wide-based gait, distal sensory impairment, and hypo- or areflexia at the ankles, consistent with Charcot-Marie-Tooth disease. Electrophysiologic studies, performed in only some patients, showed decreased nerve conduction velocities. Nerve biopsy was performed in 1 patient and showed loss of myelinated fibers and onion bulb formations. Additional common but variable features included chronic constipation, foot deformities, joint laxity, and congenital heart defects often involving the left ventricular outflow system. Three patients had structural renal abnormalities and 2 of 4 patients who underwent spinal imaging had syringomyelia. Cytogenetics In 23 unrelated patients with a complex phenotype including both global developmental delay and early-onset peripheral neuropathy, Yuan et al. (2015) identified 23 different nonrecurrent duplications of chromosome 17p12-p11.2. The duplications, which ranged in size from 3.2 to 19.8 Mb, were contiguous gene duplications with the smallest region of overlap encompassing both the PMP22 and RAI1 genes. Fourteen (60.87%) cases had apparently simple duplication rearrangements, whereas 9 (39.13%) had complex genomic rearrangements (CGRs) with higher-level structural complexities. Breakpoint junctions could be analyzed for 5 of the 14 simple duplications, and the sequences suggested fork stalling and template switching/microhomology-mediated break-induced replication (FoSTeS/MMBIR) or microhomology-mediated end-joining (MMEJ) as potential mutational mechanisms. Of the 9 CGRs, patterns included 'DEL-NML-DUP,' 'DUP-NML-DUP,' 'DUP-NML-INV/DUP,' and 'TRP-NML-DUP.' At least 1 patient had a highly complex rearrangement with multiple structural abnormalities consistent with chromothripsis/chromoanasynthesis. The breakpoint junctions of the nonrecurrent rearrangements identified in this study were enriched with repetitive DNA sequences, suggesting a predisposition of this chromosomal region to genomic instability. Array CGH performed on 14 trios showed that all the rearrangements occurred de novo. INHERITANCE \- Autosomal dominant GROWTH Other \- Failure to thrive HEAD & NECK Face \- Dysmorphic facial features, variable (in some patients) \- Triangular face \- Smooth philtrum Ears \- Ear abnormalities Eyes \- Strabismus \- Upslanting palpebral fissures Nose \- Broad nose Mouth \- Thin upper lip \- High-arched palate CARDIOVASCULAR Heart \- Congenital heart defects (in some patients) \- Septal defects \- Aortic defects \- Aortic valve defects ABDOMEN Gastrointestinal \- Feeding difficulties \- Chronic constipation GENITOURINARY Kidneys \- Structural renal abnormalities (uncommon) SKELETAL \- Joint laxity Feet \- Foot deformities MUSCLE, SOFT TISSUES \- Hypotonia \- Distal muscle weakness due to peripheral neuropathy \- Distal muscle atrophy due to peripheral neuropathy NEUROLOGIC Central Nervous System \- Delayed psychomotor development \- Intellectual disability \- Poor speech \- Delayed walking \- Ataxic gait \- Unsteady gait \- Wide-based gait \- Syringomyelia (uncommon) Peripheral Nervous System \- Demyelinating peripheral neuropathy \- Distal sensory impairment \- Hypo- or areflexia \- Decreased nerve conduction velocities Behavioral Psychiatric Manifestations \- Behavioral abnormalities MISCELLANEOUS \- Onset at birth \- Onset of peripheral neuropathy in the first decade \- Genomic duplications occur de novo \- PMP22 ( 601097 ) and RAI1 ( 607642 ) are included in smallest region of overlap MOLECULAR BASIS \- Caused by contiguous gene duplication of 3.2 to 19.8 Mb on chromosome 17p12-p11.2 ▲ 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 inhibitors [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-aminobutyric 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	YUAN-HAREL-LUPSKI SYNDROME	c4225255	27,697	omim	https://www.omim.org/entry/616652	2019-09-22T15:48:19	{"omim": ["616652"], "orphanet": ["477817"], "synonyms": ["17p11.2p12 microduplication syndrome", "Dup(17)(p11.2p12)", "Trisomy 17p11.2-p12", "Trisomy 17p11.2p12", "Yuan-Harel-Lupski syndrome"]}
A number sign (#) is used with this entry because it represents a contiguous gene deletion syndrome. Clinical Features Harada et al. (2002) described a 6.7-year-old Japanese girl with severe postnatal short stature, dolichocephaly, hypertelorism, long philtrum, small mouth, defect of bilateral lower incisors, pathologic attrition of all teeth, bilateral sensorineural deafness with bilateral ear canal stenosis, and muscle hypotonia. She also had severe psychomotor retardation with absence of speech. Friedman et al. (2006) reported an 18-year-old woman with extremely short stature, deep-set eyes with narrow palpebral fissures, low-set straight eyebrows, narrow nasal root and bridge, prominent columella with receding alae nasi, short philtrum and thin, downturned lips, small hands and feet, severe hypotonia, marked pes planus, mild scoliosis, and severe cognitive impairment. Bonnet et al. (2010) described 9 patients, ranging in age from 9 months to 23 years, who had a distinctive phenotype including neonatal muscular hypotonia, severe psychomotor retardation with absent or severely delayed speech, marked progressive growth restriction, and distinctive facial features involving a broad forehead, frontal bossing, hypertelorism, short philtrum, and downturned corners of the mouth. The 2 youngest patients still had measurements within the normal range, whereas the other 7 displayed postnatal short stature with conserved head circumference. Brain imaging was abnormal in 8 of the 9 patients, demonstrating cerebral hypoplasia with ventricular dilation in 5 individuals and cerebellar anomalies in 3. Cytogenetics In a 6.7-year-old Japanese girl with severe psychomotor retardation, severe postnatal short stature, and hypotonia, Harada et al. (2002) identified a de novo deletion of chromosome 4q21.1-q22.2 located 81 Mb to 95.8 Mb from 4pter, a region containing at least 30 genes. In an 18-year-old woman with severe cognitive impairment, extreme short stature, and severe hypotonia, Friedman et al. (2006) identified a de novo 11.1-Mb deletion of chromosome 4q21.1-q22.1 between rs1493182 to rs1586340. In 9 patients with a common phenotype comprised of severe psychomotor retardation, severe growth restriction, hypotonia, distinctive facial features, and variable brain anomalies, Bonnet et al. (2010) identified overlapping de novo deletions of chromosome 4q21. The boundaries and sizes of the 9 deletions were different, but a 1.37-Mb critical interval was defined containing 5 genes, of which the PRKG2 (601591) and RASGEF1B (614532) genes were considered to be the most promising candidates. INHERITANCE \- Isolated cases GROWTH Other \- Postnatal growth retardation, severe HEAD & NECK Head \- Frontal bossing \- Broad forehead \- Short philtrum Eyes \- Hypertelorism Mouth \- Downturned corners of mouth MUSCLE, SOFT TISSUES \- Hypotonia NEUROLOGIC Central Nervous System \- Psychomotor retardation, severe \- Speech absent or delayed \- Cerebral hypoplasia \- Ventricular dilation \- Cerebellar anomalies MISCELLANEOUS \- Contiguous gene deletion syndrome MOLECULAR BASIS \- Caused by a 1.37Mb deletion on 4q21 encompassing 5 genes ▲ 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 inhibitors [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-aminobutyric 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	CHROMOSOME 4q21 DELETION SYNDROME	c3150756	27,698	omim	https://www.omim.org/entry/613509	2019-09-22T15:58:28	{"doid": ["0060420"], "omim": ["613509"], "orphanet": ["238750"], "synonyms": ["Del(4)(q21)", "Monosomy 4q21"]}
Prurigo gestationis Other namesPrurigo gestationis of Besnier,[1] Early-onset prurigo of pregnancy,[2] Linear IgM dermatosis of pregnancy,[2] Papular dermatitis of pregnancy,[2] Prurigo of pregnancy,[2] and Spangler's papular dermatitis of pregnancy[2] SpecialtyDermatology Prurigo gestationis is an eruption consisting of pruritic, excoriated papules of the proximal limbs and upper trunk, most often occurring between the 20th and 34th week of gestation.[3][2][4][5] The exact etiology is unknown, but it is considered likely to be a flareup of atopic dermatitis during pregnancy.[6] It is sometimes considered to be a term encompassing Besnier's prurigo gestationis and other conditions.[7] It is sometimes considered a diagnosis of exclusion.[8] ## See also[edit] * Dermatoses of pregnancy * Ernest Henri Besnier * List of cutaneous conditions ## References[edit] 1. ^ Ambros-Rudolph, Christina M.; Black, Martin M.; Vaughan Jones, Samantha (29 August 2008). "9. The Papular and Pruritic Dermatoses of Pregnancy". In Martin M. Black (ed.). Obstetric and Gynecologic Dermatology E-Book. Christina Ambros-Rudolph, Libby Edwards Peter J. Lynch. Elsevier Health Sciences. pp. 73–77. ISBN 978-0-7234-3445-0. 2. ^ a b c d e f Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1. 3. ^ James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology. (10th ed.). Saunders. ISBN 0-7216-2921-0. 4. ^ Tunzi M, Gray GR (January 2007). "Common skin conditions during pregnancy". Am Fam Physician. 75 (2): 211–8. PMID 17263216. 5. ^ Kroumpouzos G, Cohen LM (April 2003). "Specific dermatoses of pregnancy: an evidence-based systematic review". Am. J. Obstet. Gynecol. 188 (4): 1083–92. doi:10.1067/mob.2003.129. PMID 12712115. 6. ^ Wolfram Sterry; Ralf Paus; Walter H. C. Burgdorf (8 March 2006). Dermatology. Thieme. pp. 331–. ISBN 978-1-58890-258-0. Retrieved 9 May 2010. 7. ^ Arieh Ingber; Mark Lebwohl (18 December 2008). Obstetric Dermatology: A Practical Guide. Springer. pp. 151–. ISBN 978-3-540-88398-2. Retrieved 9 May 2010. 8. ^ Thomas D. Horn (2003). Dermatology. Elsevier Health Sciences. pp. 454–. ISBN 978-0-323-02578-2. Retrieved 9 May 2010. * v * t * e Dermatitis and eczema Atopic dermatitis * Besnier's prurigo Seborrheic dermatitis * Pityriasis simplex capillitii * Cradle cap Contact dermatitis (allergic, irritant) * plants: Urushiol-induced contact dermatitis * African blackwood dermatitis * Tulip fingers * other: Abietic acid dermatitis * Diaper rash * Airbag dermatitis * Baboon syndrome * Contact stomatitis * Protein contact dermatitis Eczema * Autoimmune estrogen dermatitis * Autoimmune progesterone dermatitis * Breast eczema * Ear eczema * Eyelid dermatitis * Topical steroid addiction * Hand eczema * Chronic vesiculobullous hand eczema * Hyperkeratotic hand dermatitis * Autosensitization dermatitis/Id reaction * Candidid * Dermatophytid * Molluscum dermatitis * Circumostomy eczema * Dyshidrosis * Juvenile plantar dermatosis * Nummular eczema * Nutritional deficiency eczema * Sulzberger–Garbe syndrome * Xerotic eczema Pruritus/Itch/ Prurigo * Lichen simplex chronicus/Prurigo nodularis * by location: Pruritus ani * Pruritus scroti * Pruritus vulvae * Scalp pruritus * Drug-induced pruritus * Hydroxyethyl starch-induced pruritus * Senile pruritus * Aquagenic pruritus * Aquadynia * Adult blaschkitis * due to liver disease * Biliary pruritus * Cholestatic pruritus * Prion pruritus * Prurigo pigmentosa * Prurigo simplex * Puncta pruritica * Uremic pruritus Other * substances taken internally: Bromoderma * Fixed drug reaction * Nummular dermatitis * Pityriasis alba * Papuloerythroderma of Ofuji * v * t * e Pathology of pregnancy, childbirth and the puerperium Pregnancy Pregnancy with abortive outcome * Abortion * Ectopic pregnancy * Abdominal * Cervical * Interstitial * Ovarian * Heterotopic * Embryo loss * Fetal resorption * Molar pregnancy * Miscarriage * Stillbirth Oedema, proteinuria and hypertensive disorders * Gestational hypertension * Pre-eclampsia * HELLP syndrome * Eclampsia Other, predominantly related to pregnancy Digestive system * Acute fatty liver of pregnancy * Gestational diabetes * Hepatitis E * Hyperemesis gravidarum * Intrahepatic cholestasis of pregnancy Integumentary system / dermatoses of pregnancy * Gestational pemphigoid * Impetigo herpetiformis * Intrahepatic cholestasis of pregnancy * Linea nigra * Prurigo gestationis * Pruritic folliculitis of pregnancy * Pruritic urticarial papules and plaques of pregnancy (PUPPP) * Striae gravidarum Nervous system * Chorea gravidarum Blood * Gestational thrombocytopenia * Pregnancy-induced hypercoagulability Maternal care related to the fetus and amniotic cavity * amniotic fluid * Oligohydramnios * Polyhydramnios * Braxton Hicks contractions * chorion / amnion * Amniotic band syndrome * Chorioamnionitis * Chorionic hematoma * Monoamniotic twins * Premature rupture of membranes * Obstetrical bleeding * Antepartum * placenta * Circumvallate placenta * Monochorionic twins * Placenta accreta * Placenta praevia * Placental abruption * Twin-to-twin transfusion syndrome Labor * Amniotic fluid embolism * Cephalopelvic disproportion * Dystocia * Shoulder dystocia * Fetal distress * Locked twins * Nuchal cord * Obstetrical bleeding * Postpartum * Pain management during childbirth * placenta * Placenta accreta * Preterm birth * Postmature birth * Umbilical cord prolapse * Uterine inversion * Uterine rupture * Vasa praevia Puerperal * Breastfeeding difficulties * Low milk supply * Cracked nipples * Breast engorgement * Childbirth-related posttraumatic stress disorder * Diastasis symphysis pubis * Postpartum bleeding * Peripartum cardiomyopathy * Postpartum depression * Postpartum psychosis * Postpartum thyroiditis * Puerperal fever * Puerperal mastitis Other * Concomitant conditions * Diabetes mellitus * Systemic lupus erythematosus * Thyroid disorders * Maternal death * Sexual activity during pregnancy * Category 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 inhibitors [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-aminobutyric 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	Prurigo gestationis	c0406792	27,699	wikipedia	https://en.wikipedia.org/wiki/Prurigo_gestationis	2021-01-18T18:40:31	{"umls": ["C0406792"], "wikidata": ["Q7253112"]}

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