{"orpha":2349,"name":"Muscular pseudohypertrophy-hypothyroidism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Hoffmann syndrome","Kocher-Debré-Semelaigne syndrome"],"definition":"Muscular pseudohypertrophy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2349/","orphanet_url":"https://www.orpha.net/en/disease/detail/2349","names":{"fr":{"name":"Syndrome de pseudohypertrophie musculaire-hypothyroïdie","synonyms":["Syndrome de Hoffmann","Syndrome de Kocher-Debré-Semelaigne"],"definition":"La pseudohypertrophie musculaire - hypothyroïdie, également appelée syndrome de Kocher-Debré-Semelaigne, est une maladie rare caractérisée par une pseudohypertrophie des muscles due à une hypothyroïdie chronique."},"de":{"name":"Muskelpseudohypertrophie - Hypothyreose","synonyms":["Hoffman-Syndrom","Kocher-Debré-Semelaigne-Syndrom"],"definition":"Muskel-Pseudohypertrophie mit Hypothyreose, auch als Kocher-Debré-Semelaigne-Syndrom bekannt, ist eine seltene Erkrankung mit Pseudohypertrophie der Muskeln, die durch langanhaltende Hypothyreose (s. dort) verursacht ist."},"es":{"name":"Síndrome de pseudohipertrofia muscular-hipotiroidismo","synonyms":["Síndrome de Hoffmann","Síndrome de Kocher-Debré-Semelaigne"],"definition":"La pseudohipertrofia muscular-hipotiroidismo, enfermedad también conocida como síndrome de Kocher-Debre-Semelaigne, es un trastorno raro caracterizado por una pseudohipertrofia de los músculos debido a un hipotiroidismo de larga duración (ver término)."},"it":{"name":"Pseudoipertrofia muscolare - ipotiroidismo","synonyms":["Sindrome di Hoffman","Sindrome di Kocher-Debré-Semelaigne"]},"nl":{"name":"Musculaire pseudohypertrofie - hypothyreoïdie-syndroom","synonyms":["Syndroom van Hoffman","Syndroom van Kocher-Debré-Semelaigne"],"definition":"Musculaire pseudohypertrofie - hypothyreoïdie-syndroom, ook gekend als syndroom van Kocher-Debré-Semelaigne, is een zeldzame aandoening, gekenmerkt door pseudohypertrofie van spier als gevolg van langdurige hypothyreoïdie."},"pt":{"name":"Síndrome de pseudohipertrofia muscular-hipotiroidismo","synonyms":["Síndrome Hoffmann","Síndrome Kocher-Debré-Semelaigne"],"definition":"A pseudohipertrofia muscular - hipotiroidismo, também conhecida como síndrome de Kocher-Debre-Semelaigne é uma patologia rara caracterizada por pseudohipertrofia dos músculos causada por hipotiroidismo de longa duração (ver este termo)."},"pl":{"name":"Pseudohipertrofia mięśni - niedoczynność tarczycy","synonyms":["Zespół Hoffmana","Zespół Kochera, Debré i Semelaigne"]},"cs":{"name":"Syndrom zahrnující svalovou pseudohypertrofii a hypotyreózu","synonyms":["Hoffmanův syndrom","Kocher-Debrého-Semelaignův syndrom","Kocher-Debré-Semelaignův syndrom"]},"uk":{"name":"Синдром мязової псевдогіпертрофії-гіпотиреозу","synonyms":["Синдром Гофмана","Синдром Кохера-Дебре-Семелена"],"definition":"Muscular pseudohypertropy - hypothyroidism, also known as Kocher-Debre-Semelaigne syndrome is a rare disorder characterized by pseudohypertrophy of muscles due to longstanding hypothyroidism (see this term)."},"zh":{"name":"假性肌肥大-甲状腺功能减退综合征","synonyms":["Kocher-Debré-Semelaigne综合征"]},"tr":{"name":"Kas psödohipertrofisi-hipotiroidi sendromu","synonyms":["Hoffmann sendromu","Kocher-Debré-Semelaigne sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.0Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"109007822"},{"source":"MONDO","code":"0016521","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C537211","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270958","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8270","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10090560","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003712","label":"Skeletal muscle hypertrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null}]}}