{"orpha":1014,"name":"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Devriendt-Vandenberghe-Fryns syndrome"],"definition":"A rare multiple congenital anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-1014/","orphanet_url":"https://www.orpha.net/en/disease/detail/1014","names":{"fr":{"name":"Syndrome d'alopécie-déficience intellectuelle-hypogonadisme hypergonadotrope","synonyms":["Syndrome de Devriendt-Vendenberghe-Fryns"],"definition":"Ce syndrome est caractérisé par l'association d'une alopécie totale (présente dès la naissance), un déficit intellectuel léger et un hypogonadisme hypergonadotrope."},"de":{"name":"Alopezie-Intelligenzminderung-hypergonadotroper Hypogonadismus-Syndrom","synonyms":["Devriendt-Vendenberghe-Fryns-Syndrom"],"definition":"Ein seltenes Syndrom mit multiplen angeborenen Anomalien, das durch eine Kombination aus kongenitaler totaler Alopezie, leichtem intellektuellem Defizit und hypergonadotropem Hypogonadismus gekennzeichnet ist."},"es":{"name":"Síndrome de alopecia-discapacidad intelectual-hipogonadismo hipergonadotrópico","synonyms":["Síndrome de Devriendt-Vandenberghe-Fryns"],"definition":"Es un síndrome de anomalías congénitas múltiples poco frecuente caracterizado por la asociación de alopecia total congénita, déficit intelectual leve e hipogonadismo hipergonadotrópico."},"it":{"name":"Sindrome alopecia-disabilità cognitiva-ipogonadismo ipergonadotropo","synonyms":["Sindrome di Devriendt-Van den Berghe-Fryns","Sindrome di Devriendt-VandenBerghe-Fryns"]},"nl":{"name":"Alopecie - intellectuele achterstand - hypergonadotroop hypogonadisme-syndroom","synonyms":["Syndroom van Devriendt-Vandenberghe-Fryns"],"definition":"Een zeldzaam met multipele congenitale anomalieën, gekenmerkt door associatie van congenitale totale alopecie, milde intellectuele achterstand, en hypergonadotroop hypogonadisme."},"pt":{"name":"Síndrome de alopecia-perturbação do desenvolvimento intelectual-hipogonadismo hipergonadotrópico","synonyms":["Síndrome Devriendt-Vandenberghe-Fryns"],"definition":"Uma síndrome rara de anomalias congénitas múltiplas caracterizada pela associação de alopécia total congénita, perturbação do desenvolvimento intelectual ligeira e hipogonadismo hipergonadotrópico."},"pl":{"name":"Zespół łysienia, niepełnosprawności intelektualnej i hipogonadyzmu hipergonadotropowego","synonyms":["Zespół Devriendta, Vandenberghe'a i Frynsa"],"definition":"Rzadki zespół mnogich wad wrodzonych, który charakteryzuje się współwystępowaniem wrodzonego całkowitego łysienia, łagodnego upośledzenia umysłowego i hipogonadyzmu hipergonadotropowego."},"cs":{"name":"Syndrom zahrnující alopecii, mentální retardaci a hypergonadotropní hypogonadismus","synonyms":["Devriendtův-Vanderbergheho-Frynsův syndrom","Devriendt-Vanderberghe-Frynsův syndrom"]},"uk":{"name":"Синдром алопеції-інтелектуальної недостатності-гіпергонадотропного гіпогонадизму","synonyms":["Синдром Девріндта-Ванденберге-Фринса"],"definition":"A rare multiple congential anomalies syndrome characterized by association of congenital total alopecia, mild intellectual deficit and hypergonadotropic hypogonadism."},"zh":{"name":"脱发-智力障碍-高促性腺激素性性腺机能减退综合征","synonyms":["Devriendt-Vandenberghe-Fryns综合征"]},"tr":{"name":"Alopesi-zihinsel yetersizlik-hipergonadotropik hipogonadizm sendromu","synonyms":["Devriendt-Vandenberghe-Fryns sendromu"]}},"xrefs":[{"source":"OMIM","code":"601217","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q87.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0011019","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4303740","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":79364,"name":"Alopecia","classifications":[187]},{"orpha":481771,"name":"Genetic alopecia","classifications":[156]},{"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]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"8721564[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_8721564[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0007418","label":"Alopecia totalis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Very frequent (99-80%)","criteria":null}]}}