{"orpha":79241,"name":"Biotinidase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Juvenile-onset multiple carboxylase deficiency","Late-onset multiple carboxylase deficiency"],"definition":"A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79241/","orphanet_url":"https://www.orpha.net/en/disease/detail/79241","names":{"fr":{"name":"Déficit en biotinidase","synonyms":["Déficit multiple en carboxylases par déficit en biotinidase","Déficit multiple en carboxylases à début tardif"],"definition":"Forme à début tardif de déficit multiple en carboxylases, une anomalie congénitale du métabolisme de la biotine qui, en l'absence de traitement, se caractérise par des convulsions, troubles respiratoires, hypotonie, éruption cutanée, alopécie, surdité et retard du développement."},"de":{"name":"Biotinidase-Mangel","synonyms":["BTD-Mangel","Multipler Carboxylase-Mangel, juveniler","Multipler Carboxylase-Mangel, spät-einsetzender"],"definition":"Der Biotinidase-Mangel ist eine spät beginnende Form des Multiplen Carboxylase-Mangels, einer angeborenen Störung des Biotinstoffwechsels, die unbehandelt durch Krampfanfälle, Atemprobleme, Muskelhypotonie, Hautausschläge, Alopezie, Hörverlust und verzögerte Entwicklung gekennzeichnet ist."},"es":{"name":"Deficiencia de biotinidasa","synonyms":["Deficiencia múltiple de carboxilasas de inicio juvenil","Deficiencia múltiple de carboxilasas de inicio tardío"],"definition":"Es una forma de deficiencia múltiple de carboxilasas de inicio tardío, un error congénito del metabolismo de la biotina que en ausencia de tratamiento se caracteriza por crisis epilépticas, dificultad respiratoria, hipotonía, erupciones cutáneas, alopecia, pérdida auditiva y retraso psicomotor."},"it":{"name":"Deficit di biotinidasi","synonyms":["Deficit di BTD","Deficit multiplo di carbossilasi a esordio giovanile","Deficit multiplo di carbossilasi a esordio tardivo"],"definition":"Il deficit di biotinidasi (BTD) è una forma ad esordio tardivo del deficit multiplo di carbossilasi, un difetto congenito del metabolismo della biotina che, se non trattato, causa crisi epilettiche, disturbi respiratori, ipotonia, eruzioni cutanee, alopecia, sordità e ritardo dello sviluppo."},"nl":{"name":"Biotinidasedeficiëntie","synonyms":["Multipele carboxylasedeficiëntie met juveniele aanvang","Multipele carboxylasedeficiëntie met late aanvang"],"definition":"Een laat aanvangende vorm van meervoudige carboxylasedeficiëntie, een aangeboren defect van metabolisme van biotine, zonder behandeling gekarakteriseerd door insulten, ademhalingsproblemen, hypotonie, huiduitslag, alopecie, gehoorverlies en ontwikkelingsachterstand."},"pt":{"name":"Deficiência de biotinidase","definition":"A deficiência de biotinidase é uma forma de início tardio da deficiência de múltiplas carboxilases (ver este termo), uma doença congénita do metabolismo da biotina que, se não tratada, é caracterizada por convulsões, problemas respiratórios, hipotonia, erupção cutânea, alopecia, surdez e atraso no desenvolvimento."},"pl":{"name":"Niedobór biotynidazy","synonyms":["Młodzieńczy złożony Niedobór karboksylazy","Niedobór BTD","Złożony Niedobór karboksylazy o późnym początku"]},"cs":{"name":"Deficit biotinidázy","synonyms":["Deficit BTD","Mnohočetný karboxylázový deficit s juvenilním začátkem","Mnohočetný karboxylázový deficit s pozdním začátkem"]},"uk":{"name":"Дефіцит біотинідази","synonyms":["Ювенільний дефіцит множинної карбоксилази","Пізній дефіцит множинної карбоксилази"],"definition":"A late-onset form of multiple carboxylase deficiency, an inborn error of biotin metabolism that, if untreated, is characterized by seizures, breathing difficulties, hypotonia, skin rash, alopecia, hearing loss and delayed development."},"zh":{"name":"生物素酶缺陷症","synonyms":["幼年型多发性羧化酶缺乏"]},"tr":{"name":"Biyotinidaz eksikliği","synonyms":["BTD eksikliği","Geç başlangıçlı çoklu karboksilaz eksikliği","jüvenil başlangıçlı çoklu karboksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"253260","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E53.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.E0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1336432647"},{"source":"MONDO","code":"0009665","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D028921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220754","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"894","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071434","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309833,"name":"Disorder of other vitamins and cofactors metabolism and transport","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"BTD","name":"biotinidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301497[PMID]","hgnc":"1122","ensembl":"ENSG00000169814","omim":"609019","loci":["3p25.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Worldwide","status":"Not yet validated","source":"1779651[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"1779651[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"United States","status":"Validated","source":"2314964[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Brazil","status":"Validated","source":"9713119[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Sweden","status":"Validated","source":"20224900[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.2,"area":"Italy","status":"Validated","source":"11953730[PMID]_3391228[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Italy","status":"Validated","source":"11953730[PMID]_3391228[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Austria","status":"Validated","source":"11388594[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Hungary","status":"Validated","source":"17185019[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.0,"area":"Turkey","status":"Validated","source":"20333870[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.0069,"area":"China","status":"Validated","source":"34103049[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":11.58,"area":"Czech Republic","status":"Validated","source":"31241292[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-01-29","source":"30746739[PMID]_20301497[PMID]","terms":[{"hpo":"HP:0410145","label":"Decreased biotinidase activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005979","label":"Metabolic ketoacidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002715","label":"Abnormality of the immune system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000988","label":"Skin rash","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002104","label":"Apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000509","label":"Conjunctivitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002123","label":"Generalized myoclonic seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002883","label":"Hyperventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006511","label":"Laryngeal stridor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003690","label":"Limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002196","label":"Myelopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200068","label":"Nonprogressive visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001138","label":"Optic neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005401","label":"Recurrent candida infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002841","label":"Recurrent fungal infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004429","label":"Recurrent viral infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000575","label":"Scotoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002313","label":"Spastic paraparesis","frequency":"Occasional (29-5%)","criteria":null}]}}