{"orpha":1876,"name":"Oculogastrointestinal muscular dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Visceral myopathy-familial external ophthalmoplegia syndrome"],"definition":"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrition and intestinal pseudo-obstruction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1876/","orphanet_url":"https://www.orpha.net/en/disease/detail/1876","names":{"fr":{"name":"Dystrophie musculaire oculo-gastro-intestinale","synonyms":["Syndrome de myopathie viscérale familiale-ophtalmoplégie externe"],"definition":"La dystrophie musculaire oculo-gastrointestinale est une maladie neuromusculaire héréditaire de transmission autosomatique récessive extrêmement rare, caractérisée par des manifestations oculaires telles qu'un ptosis et une diplopie, suivies par une diarrhée chronique, une malnutrition et une pseudo-obstruction intestinale."},"de":{"name":"Okulo-gastro-intestinale Muskeldystrophie","synonyms":["Myopathie, familiäre viszerale mit externer Ophtalmoplegie"],"definition":"Die Okulo-gastro-intestinale Muskeldystrophie ist eine extrem seltene, autosomal-rezessiv vererbte neuromuskuläre Erkrankung und gekennzeichnet durch Symptome an den Augen (Ptose, Diplopie), gefolgt von Diarrhoe, Mangelernährung und intestinaler Pseudoobstruktion."},"es":{"name":"Distrofia muscular óculo-gastrointestinal","definition":"La distrofia muscular óculo-gastrointestinal es una enfermedad neuromuscular de herencia autosómica recesiva extremadamente poco frecuente, caracterizada por manifestaciones oculares tales como ptosis y diplopía seguidas de diarrea crónica, malnutrición y pseudo-obstrucción intestinal."},"it":{"name":"Distrofia muscolare oculogastrointestinale","synonyms":["Miopatia viscerale familiare - oftalmoplegia esterna"],"definition":"La distrofia muscolare oculo-gastro-intestinale è una malattia neuromuscolare estremamente rara, a trasmissione autosomica recessiva, caratterizzata da sintomi oculari, come la ptosi e la diplopia, seguite da diarrea cronica, malnutrizione e pseudo-ostruzione intestinale."},"nl":{"name":"Oculogastro-intestinale spierdystrofie","synonyms":["Viscerale myopathie - familiale externe oftalmoplegie-syndroom"],"definition":"Een uiterst zeldzame autosomaal recessieve neuromusculaire aandoening, gekenmerkt door oculaire manifestaties zoals ptosis en diplopie, gevolgd door chronische diarree, malnutritie, en intestinale pseudo-obstructie."},"pt":{"name":"Distrofia muscular óculo-gastro-intestinal","synonyms":["Miopatia visceral-oftalmoplegia externa familiar"]},"pl":{"name":"Dystrofia mięśniowa oczno-żołądkowo-jelitowa","synonyms":["Miopatia trzewna - rodzinna zewnętrzna oftalmoplegia"]},"cs":{"name":"Okulogastrointestinální svalová dystrofie","synonyms":["Syndrom zahrnující viscerální myopatii a familiární externí oftalmoplegii"]},"uk":{"name":"Окуло-гастроінтестинальна мязова дистрофія","synonyms":["Синдром вісцеральної міопатії-сімейної зовнішньої офтальмоплегії"],"definition":"Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction."},"zh":{"name":"眼肠肌营养不良","synonyms":["内脏肌病-家族性眼外肌麻痹"]},"tr":{"name":"Okülogastrointestinal kas distrofisi","synonyms":["Viseral miyopati-ailesel eksternal oftalmopleji sendromu"]}},"xrefs":[{"source":"OMIM","code":"277320","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"DA90.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1205053137"},{"source":"MONDO","code":"0010181","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536350","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1848586","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"5496","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":104009,"name":"Rare disease involving intestinal motility","classifications":[152,156,233]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":1.0,"area":"Worldwide","status":"Validated","source":"3366929[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004295","label":"Abnormality of the gastric mucosa","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011024","label":"Abnormality of the gastrointestinal tract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004326","label":"Cachexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000544","label":"External ophthalmoplegia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002578","label":"Gastroparesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003198","label":"Myopathy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005203","label":"Spontaneous esophageal perforation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null}]}}