{"orpha":977,"name":"Adrenomyodystrophy","type":"Disease","group":"Disorder","status":"historical","flags":[],"synonyms":[],"definition":"An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-977/","orphanet_url":"https://www.orpha.net/en/disease/detail/977","names":{"fr":{"name":"Adrénomyodystrophie","definition":"L'adrénomyodystrophie est une maladie génétique endocrine extrêmement rare caractérisée par une insuffisance surrénale primaire, une myopathie dystrophique, une stéatose hépatique, un retard psychomoteur sévère, une mégalocornée, un retard de croissance staturo-pondérale, une constipation chronique et une ectasie vésicale terminale, pouvant être fatale. Il n'y a pas eu de description ultérieure de la maladie dans la littérature depuis 1982."},"de":{"name":"Adrenomyodystrophie","definition":"Eine extrem seltene, genetisch bedingte endokrine Erkrankung, die durch primäre Nebenniereninsuffizienz, dystrophische Myopathie, hepatische Steatose, schwere psychomotorische Verzögerung, Megalokornea, Gedeihstörung, chronische Verstopfung und terminale Blasenektasie gekennzeichnet ist und zum Tod führen kann. Seit 1982 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Adrenomiodistrofia","definition":"Es una enfermedad endocrina genética extremadamente infrecuente caracterizada por insuficiencia suprarrenal primaria, distrofia muscular, esteatosis hepática, grave retraso psicomotor, megalocórnea, fallo de medro, estreñimiento crónico y ectasia terminal de la vejiga que puede conducir a la muerte. No ha habido más casos descritos en la literatura desde 1982."},"it":{"name":"Adrenomiodistrofia","definition":"L'adrenomiodistrofia è una malattia endocrina genetica molto rara, caratterizzata da insufficienza primitiva dei surreni, miopatia distrofica, degenerazione grassa del fegato, ritardo psicomotorio grave, megalocornea, ritardo dello sviluppo, costipazione cronica e ectasia terminale della vescica, che può portare alla morte. Non sono stati descritti nuovi casi dopo il 1982."},"nl":{"name":"Adrenomyodystrofie","definition":"Een uiterst zeldzame, genetische, endocriene ziekte, gekarakteriseerd door primaire bijnierschorsinsufficiëntie, dystrofische myopathie, leversteatose, ernstige psychomotorische achterstand, megalocornea, groeifalen, chronische constipatie, en terminale ectasie van de blaas die kan lijden tot de dood. Sinds 1982 zijn er geen verdere beschrijvingen te vinden in de literatuur."},"pt":{"name":"Adrenomiodistrofia"},"pl":{"name":"Adrenomiodystrofia"},"cs":{"name":"Adrenomyodystrofie"},"uk":{"name":"Адреноміодистрофія","definition":"An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982."},"zh":{"name":"肾上腺肌营养不良"},"tr":{"name":"Adrenomyodistrofi"}},"xrefs":[{"source":"OMIM","code":"300270","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E27.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A74.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"46666832"},{"source":"MONDO","code":"0010288","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538051","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1846044","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"562","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":101960,"name":"Genetic chronic primary adrenal insufficiency","classifications":[156,193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"7153060[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_7153060[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002242","label":"Abnormal intestine morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000079","label":"Abnormality of the urinary system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003457","label":"EMG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000021","label":"Megacystis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000485","label":"Megalocornea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008207","label":"Primary adrenal insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011344","label":"Severe global developmental delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007440","label":"Generalized hyperpigmentation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}