{"orpha":79242,"name":"Holocarboxylase synthetase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Early-onset multiple carboxylase deficiency","Neonatal multiple carboxylase deficiency"],"definition":"A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79242/","orphanet_url":"https://www.orpha.net/en/disease/detail/79242","names":{"fr":{"name":"Déficit en holocarboxylase synthétase","synonyms":["Déficit multiple en carboxylases par déficit en holocarboxylase synthétase","Forme néonatale du déficit multiple en carboxylases"],"definition":"Déficit multiple rare, précoce et potentiellement létal en carboxylases qui, en l'absence de traitement, se caractérise par des vomissements, tachypnée, irritabilité, léthargie, dermatite exfoliative et convulsions pouvant s'aggraver et entraîner coma et décès."},"de":{"name":"Holocarboxylase-Synthetase-Mangel","synonyms":["Multipler Carboxylase-Mangel, früh-einsetzender","Multipler Carboxylase-Mangel, neonataler"],"definition":"Eine früh einsetzende, lebensbedrohliche Stoffwechselstörung, die unbehandelt zu Erbrechen, Tachypnoe, Reizbarkeit, Lethargie, exfoliativer Dermatitis und Krampfanfällen bis hin zum Koma und Tod führt."},"es":{"name":"Deficiencia de holocarboxilasa sintetasa","synonyms":["Deficiencia múltiple de carboxilasas de inicio precoz","Deficiencia múltiple de carboxilasas neonatal"],"definition":"Es una deficiencia múltiple de carboxilasas, de inicio temprano y potencialmente mortal, poco frecuente, que en ausencia de tratamiento se caracteriza por vómitos, taquipnea, irritabilidad, letargia, dermatitis exfoliativa, y crisis epilépticas que pueden empeorar hasta el coma y el fallecimiento."},"it":{"name":"Deficit di olocarbossilasi sintetasi","synonyms":["Deficit multiplo di carbossilasi a esordio precoce","Deficit multiplo neonatale di carbossilasi"],"definition":"Il deficit di olocarbossilasi sintentasi (HCSD) è un raro deficit multiplo di carbossilasi ad esordio precoce potenzialmente letale. Se non trattato, è caratterizzato da vomito, tachipnea, irritabilità, letargia, dermatite esfoliativa e crisi epilettiche che possono aggravarsi ed esitare nel coma o nel decesso."},"nl":{"name":"Deficiëntie van holocarboxylase-synthetase","synonyms":["Multipele deficiëntie van carboxylase met vroege aanvang","Neonatale meervoudige deficiëntie van carboxylase"],"definition":"Een zeldzame, vroeg optredende en levensbedreigende multipele deficiëntie van carboxylase, zonder behandeling gekarakteriseerd door braken, tachypneu, prikkelbaarheid, lethargie, exfoliatieve dermatitis, en insulten die kunnen verergeren tot coma en dood."},"pt":{"name":"Deficiência de holocarboxilase sintetase","definition":"A deficiência de holocarboxilase sintetase (HCS) é uma forma potencialmente fatal de início precoce da deficiência de múltiplas carboxilases (ver este termo), uma doença congénita do metabolismo da biotina, que, se não tratada, é caracterizada por vómitos, taquipneia, irritabilidade, letargia, dermatite esfoliativa e convulsões que podem agravar para coma."},"pl":{"name":"Niedobór syntetazy holokarboksylazy","synonyms":["Złożony Niedobór karboksylazy noworodków","Złożony Niedobór karboksylazy o wczesnym początku"]},"cs":{"name":"Deficit holokarboxylázy syntetázy","synonyms":["Mnohočetný karboxylázový deficit s časným začátkem","Neonatální mnohočetný karboxylázový deficit"]},"uk":{"name":"Дефіцит синтетази голокарбоксилази","synonyms":["Ранній дефіцит множинної карбоксилази","Неонатальна множинна карбоксилазна недостатність"],"definition":"A rare, early-onset and life-threatening, multiple carboxylase deficiency that when left untreated, is characterized by vomiting, tachypnea, irritability, lethargy, exfoliative dermatitis, and seizures that can worsen to coma and death."},"zh":{"name":"羧化酶合酶缺陷症","synonyms":["早发性多发性羧化酶缺乏"]},"tr":{"name":"Holokarboksilaz sentetaz eksikliği","synonyms":["Yenidoğan çoklu karboksilaz eksikliği","Erken başlangıçlı çoklu karboksilaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"253270","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":"1184113045"},{"source":"MONDO","code":"0009666","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D028922","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268581","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2721","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]}],"children":[],"genes":[{"symbol":"HLCS","name":"holocarboxylase synthetase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16134170[PMID]","hgnc":"4976","ensembl":"ENSG00000159267","omim":"609018","loci":["21q22.13"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.5,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0002039","label":"Anorexia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001096","label":"Keratoconjunctivitis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011127","label":"Perioral eczema","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001992","label":"Organic aciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002789","label":"Tachypnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007549","label":"Desquamation of skin soon after birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000964","label":"Eczematoid dermatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null}]}}