{"orpha":88637,"name":"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["4H syndrome"],"definition":null,"note":"This disease is described under 4H leukodystrophy","url":"https://raremap.alftech.space/d/ORPHA-88637/","orphanet_url":"https://www.orpha.net/en/disease/detail/88637","names":{"fr":{"name":"Syndrome d'hypomyélinisation-hypogonadisme hypogonadotrope-hypodontie","synonyms":["Syndrome 4H"]},"de":{"name":"Hypomyelinisierung-Hypogonadotroper Hypogonadismus-Hypodontie-Syndrom"},"es":{"name":"Síndrome de hipomielinización-hipogonadismo hipogonadotrópico-hipodoncia","synonyms":["Síndrome 4H"]},"it":{"name":"Sindrome ipomielinizzazione-ipogonadismo ipogonadotropo-ipodontia","synonyms":["Sindrome 4H"]},"nl":{"name":"Hypomyelinisatie - hypogonadotroop hypogonadisme - hypodontie-syndroom","synonyms":["4H-syndroom"]},"pt":{"name":"Síndrome de hipomielinização-hipogonadismo hipogonadotrópico-hipodontia","synonyms":["Síndrome 4H"]},"pl":{"name":"Zespół hipomielinizacji, hipogonadyzmu hipogonadotropowego i hipodoncji","synonyms":["Zespół 4H"]},"cs":{"name":"Syndrom zahrnující hypomyelinizaci, hypogonadotropní hypogonadismus a hypodoncii","synonyms":["4H syndrom"]},"uk":{"name":"Синдром гіпомієлінізації-гіпогонадотропного гіпогонадизму-гіподонтії","synonyms":["Синдром 4H"]},"zh":{"name":"髓鞘形成低下-促性腺激素性性腺功能减退症-牙发育不全综合征","synonyms":["4H综合征"]},"tr":{"name":"Hipomiyelinizasyon-hipogonadotropik hipogonadizm-hipodonti sendromu","synonyms":["4H sendromu"]}},"xrefs":[{"source":"OMIM","code":"607694","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"614381","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616494","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A44.3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"346802172"},{"source":"MeSH","code":"C567313","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676243","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":85186,"name":"Endosteal sclerosis-cerebellar hypoplasia syndrome","status":"inactive"}],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":289494,"name":"4H leukodystrophy","classifications":[156,181]},{"orpha":181387,"name":"Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism","classifications":[156,193,201,205]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"POLR1C","name":"RNA polymerase I and III subunit C","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26151409[PMID]","hgnc":"20194","ensembl":"ENSG00000171453","omim":"610060","loci":["6p21.1"]},{"symbol":"POLR3A","name":"RNA polymerase III subunit A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"21855841[PMID]_22855961[PMID]","hgnc":"30074","ensembl":"ENSG00000148606","omim":"614258","loci":["10q22.3"]},{"symbol":"POLR3B","name":"RNA polymerase III subunit B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22855961[PMID]_22036172[PMID]","hgnc":"30348","ensembl":"ENSG00000013503","omim":"614366","loci":["12q23.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_29618326[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0001251","label":"Ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003429","label":"CNS hypomyelination","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very frequent (99-80%)","criteria":null}]}}