{"orpha":280679,"name":"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism"],"definition":"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-280679/","orphanet_url":"https://www.orpha.net/en/disease/detail/280679","names":{"fr":{"name":"Syndrome d'angiopathie de Moyamoya-petite taille-dysmorphie faciale-hypogonadisme hypergonadotrope","synonyms":["Maladie de Moyamoya-petite taille-dysmorphie faciale-hypogonadisme hypergonadotrope"],"definition":"Syndrome neurologique héréditaire rare avec dysmorphie, caractérisé par la maladie de Moyamoya, une petite taille à début post-natale et une dysmorphie faciale stéréotypée."},"de":{"name":"Moyamoya-Krankheit-Kleinwuchs-Gesichtsdysmorphien-hypergonadotroper Hypogonadismus-Syndrom","synonyms":["Moyamoya-Krankheit - Kleinwuchs - Gesichtsdysmorphien - hypergonadotroper Hypogonadismus"]},"es":{"name":"Síndrome de angiopatía de Moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico","synonyms":["Enfermedad de Moyamoya-talla baja-dismorfia facial-hipogonadismo hipergonadotrópico"],"definition":"Es un síndrome neurológico y dismórfico, hereditario y muy poco frecuente, caracterizado por la enfermedad de Moyamoya en asociación con talla baja de inicio postnatal y dismorfia facial estereotipada."},"it":{"name":"Sindrome da angiopatia di moyamoya-bassa statura-dismorfismi facciali-ipogonadismo ipergonadotropo","synonyms":["Malattia di Moyamoya - bassa statura - dismorfismi facciali - ipogonadismo ipergonadotropo"],"definition":"La sindrome che associa l'angiopatia di moyamoya, la bassa statura, i dismorfismi facciali e l'ipogonadismo ipergonadotropo è una sindrome neurologica ereditaria molto rara con dismorfismi, caratterizzata da angiopatia di moyamoya, bassa statura ad esordio postnatale e dismorfismi facciali stereotipati."},"nl":{"name":"Moyamoya-angiopathie - kleine gestalte - faciale dysmorfie - hypergonadotroop hypogonadisme-syndroom","synonyms":["Moyamoya-ziekte - kleine gestalte - faciale dysmorfie - hypergonadotroop hypogonadisme-syndroom"],"definition":"Moyamoya-angiopathie - kleine gestalte - faciale dysmorfie - hypergonadotroop hypogonadisme-syndroom is een zeer zeldzaam, erfelijk, neurologisch, dysmorf syndroom dat wordt gekarakteriseerd door moyamoya-ziekte, kleine gestalte met postnatale aanvang, en stereotiepe faciale dysmorfie."},"pt":{"name":"Síndrome de angiopatia de Moyamoya-baixa estatura-dismorfia facial-hipogonadismo hipergonadotrópico","synonyms":["Doença de Moyamoya-baixa estatura-dismorfia facial-hipogonadismo hipergonadotrópico"]},"pl":{"name":"Angiopatia Moyamoya - niski wzrost - dysmorfia twarzy - hipogonadyzm hipergonadotropowy","synonyms":["Choroba Moyamoya - niski wzrost - dysmorfia twarzy - hipogonadyzm hipergonadotropowy"]},"cs":{"name":"Syndrom zahrnující Moyamoya angiopatii, malý vzrůst, faciální dysmorfismus a hypergonadotropní hypogonadismus","synonyms":["Onemocnění zahrnující moyamoya, malý vzrůst, faciální dysmorfismus a hypergonadotropní hypogonadismus"]},"uk":{"name":"Синдром ангіопатії Моямоя-низькорослості-дисморфізму обличчя-гіпергонадотропного гіпогонадизму","synonyms":["Хвороба Моямоя - низький зріст - дисморфізм обличчя - гіпергонадотропний гіпогонадизм"],"definition":"Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism."},"zh":{"name":"烟雾病-身材矮小-面部畸形-高促性腺激素性腺功能减退综合征","synonyms":["烟雾病-身材矮小-面部畸形-高促性腺激素减退症"],"definition":"烟雾样脑血管病-身材矮小-面部畸形-促性腺激素分泌过量型性腺功能低下是一种非常罕见的遗传性神经畸形综合征，其特征是烟雾病、生后出现身材矮小和刻板的面部畸形。"},"tr":{"name":"Moyamoya anjiyopati-kısa boy-yüz dismorfizm-hipergonadotropik hipogonadizm sendromu","synonyms":["Moyamoya hastalığı-kısa boy-fasiyal dismorfizm-hipergonadotropik hipogonadizm"]}},"xrefs":[{"source":"OMIM","code":"300845","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2F.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"673174743"},{"source":"MONDO","code":"0010448","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4518329","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":611327,"name":"Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[156]},{"orpha":102283,"name":"Multiple congenital anomalies/dysmorphic syndrome-intellectual disability","classifications":[147,181]},{"orpha":477771,"name":"Rare disorder with a moyamoya angiopathy","classifications":[156,181]},{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]}],"children":[],"genes":[{"symbol":"BRCC3","name":"BRCA1/BRCA2-containing complex subunit 3","gene_type":"gene with protein product","association":"Role in the phenotype of","status":"Assessed","source":"21596366[PMID]","hgnc":"24185","ensembl":"ENSG00000185515","omim":"300617","loci":["Xq28"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":9.0,"area":"Worldwide","status":"Validated","source":"21596366[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":"2020-06-17","source":"20644152[PMID]_21596366[PMID]_25733922[PMID]","terms":[{"hpo":"HP:0011834","label":"Moyamoya phenomenon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000027","label":"Azoospermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001342","label":"Cerebral hemorrhage","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007970","label":"Congenital ptosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004302","label":"Functional motor deficit","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002140","label":"Ischemic stroke","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000343","label":"Long philtrum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000278","label":"Retrognathia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001677","label":"Coronaryartery atherosclerosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008734","label":"Decreased testicular size","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000490","label":"Deeply set eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000454","label":"Flared nostrils","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000369","label":"Low-set ears","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000445","label":"Wide nose","frequency":"Occasional (29-5%)","criteria":null}]}}