{"orpha":391417,"name":"HSD10 disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["2-methyl-3-hydroxybutyric aciduria","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency","HSD10 deficiency","MHBD deficiency"],"definition":"HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-391417/","orphanet_url":"https://www.orpha.net/en/disease/detail/391417","names":{"fr":{"name":"Maladie HSD10","synonyms":["Acidurie 2-méthyl-3-hydroxybutyrique","Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase","Déficit en HSD10","Déficit en MHBD"],"definition":"Maladie neurométabolique rare, potentiellement létale, caractérisée par une évolution neurodégénérative progressive, une épilepsie, une rétinopathie et une cardiomyopathie progressive."},"de":{"name":"HSD10-Krankheit","synonyms":["2-Methyl-3-Hydroxybutyrazidurie","2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel","HSD10-Mangel","MHBD-Mangel"],"definition":"Die HSD10-Krankheit ist eine seltene, lebensbedrohliche neurometabolische Erkrankung, die durch einen progressiven neurodegenerativen Verlauf, Epilepsie, Retinopathie und progressive Kardiomyopathie gekennzeichnet ist."},"es":{"name":"Enfermedad de HSD10","synonyms":["Aciduria 2-metil-3-hidroxibutírica","Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa","Deficiencia de HSD10","Deficiencia de MHBD"],"definition":"La enfermedad de HSD10 es una enfermedad neurometabólica, poco frecuente y potencialmente letal, caracterizada por un curso neurodegenerativo progresivo, epilepsia, retinopatía y cardiomiopatía progresiva."},"it":{"name":"Malattia HSD10","synonyms":["Aciduria 2-metil-3-idrossibutirrica","Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi","Deficit di HSD10","Deficit di MHBD"],"definition":"La malattia HSD10 è una malattia neurometabolica rara e potenzialmente letale, caratterizzata da un decorso neurodegenerativo progressivo, epilessia, retinopatia e cardiomiopatia progressiva."},"nl":{"name":"HSD10-ziekte","synonyms":["2-methyl-3-hydroxybutaanzuuracidurie","2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie","HSD10-deficiëntie","MHBD-deficiëntie"],"definition":"HSD10-ziekte is een zeldzame, levensbedreigende neurometabole ziekte die gekarakteriseerd wordt door een progressief neurodegeneratief verloop, epilepsie, retinopathie en progressieve cardiomyopathie."},"pt":{"name":"Doença HSD10"},"pl":{"name":"Choroba HSD10","synonyms":["Acyduria 2-metylo-3-hydroksymasłowa","Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA","Niedobór HSD10","Niedobór MHBD"]},"cs":{"name":"Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy","synonyms":["2-methyl-3-hydroxymáselná acidurie","Deficit HSD10","Deficit MHBD"]},"uk":{"name":"Хвороба HSD10","synonyms":["2-метил-3-гідроксимасляна ацидурія","Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази","Дефіцит HSD10","Дефіцит MHBD"],"definition":"HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy."},"zh":{"name":"HSD10病","synonyms":["2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症"],"definition":"17β-羟类固醇脱氢酶10型缺陷症是一种罕见的危及生命的神经代谢疾病，以进行性神经退行性变、癫痫、视网膜病变和进行性心肌病为特征。"},"tr":{"name":"HSD10 hastalığı","synonyms":["MHBD eksikliği","HSD10 eksikliği","2-metil-3-hidroksibütirik asidüri","2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"300438","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1856599173"},{"source":"MONDO","code":"0010327","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564560","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3266731","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10716","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79158,"name":"Cerebral organic aciduria","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":85295,"name":"HSD10 disease, atypical type","type":"Clinical subtype"},{"orpha":391428,"name":"HSD10 disease, infantile type","type":"Clinical subtype"},{"orpha":391457,"name":"HSD10 disease, neonatal type","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"HSD17B10","name":"hydroxysteroid 17-beta dehydrogenase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22127393[PMID]","hgnc":"4800","ensembl":"ENSG00000072506","omim":"300256","loci":["Xp11.22"],"via":{"orpha":85295,"name":"HSD10 disease, atypical type"}},{"symbol":"HSD17B10","name":"hydroxysteroid 17-beta dehydrogenase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22127393[PMID]","hgnc":"4800","ensembl":"ENSG00000072506","omim":"300256","loci":["Xp11.22"],"via":{"orpha":391428,"name":"HSD10 disease, infantile type"}},{"symbol":"HSD17B10","name":"hydroxysteroid 17-beta dehydrogenase 10","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22127393[PMID]","hgnc":"4800","ensembl":"ENSG00000072506","omim":"300256","loci":["Xp11.22"],"via":{"orpha":391457,"name":"HSD10 disease, neonatal type"}}],"inheritance":["X-linked dominant"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":37.0,"area":"Worldwide","status":"Validated","source":"27306202[PMID]_27295195[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_27306202[PMID]_27295195[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-10","source":"27295195[PMID]_26950678[PMID]_22132097[PMID]_16148061[PMID]_14729408[PMID]_12555940[PMID]_11102558[PMID]","terms":[{"hpo":"HP:0012073","label":"Abnormal urinary acylglycine profile","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040155","label":"Elevated urinary 3-hydroxybutyric acid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002342","label":"Intellectual disability, moderate","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012433","label":"Abnormal social behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004925","label":"Chronic lactic acidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007042","label":"Focal white matter lesions","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006892","label":"Frontotemporal cerebral atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002307","label":"Drooling","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002579","label":"Gastrointestinal dysmotility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001347","label":"Hyperreflexia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007030","label":"Nonprogressive encephalopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008897","label":"Postnatal growth retardation","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002063","label":"Rigidity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Very rare (<4-1%)","criteria":null}]}}