{"orpha":79095,"name":"Congenital bile acid synthesis defect type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["2-methylacyl-CoA racemase deficiency","AMACR deficiency","Alpha-methyl-acyl-CoA racemase deficiency","BASD4","Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome"],"definition":"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-79095/","orphanet_url":"https://www.orpha.net/en/disease/detail/79095","names":{"fr":{"name":"Déficit congénital de synthèse des acides biliaires type 4","synonyms":["DSAB4","Déficit en 2-méthylacyl-CoA racémase","Déficit en AMACR","Déficit en alpha-méthylacyl-CoA racémase"],"definition":"Le déficit congénital de synthèse des acides biliaires (SAB) type 4 est une anomalie de la SAB caractérisée par une cholestase hépatique discrète, une malabsorption des lipides et/ou une atteinte neurologique."},"de":{"name":"Gallensäuresynthesedefekt, kongenitaler, Typ 4","synonyms":["2-Methylacyl-CoA-Racemase-Mangel","AMACR-Mangel","Alpha-Methylacyl-CoA-Racemase-Mangel","BASD4","Leberkrankheit-Retinitis pigmentosa-Polyneuropathie-Epilepsie-Syndrom"],"definition":"Der Typ 4 des Kongenitalen Defektes der Gallensäuren-Synthese, eine der Anomalien der Gallensäuren-Synthese (s. dort), ist gekennzeichnet durch leichte cholestatische Lebererkrankung, Malabsorption von Fett und/oder neurologische Störungen."},"es":{"name":"Defecto congénito de la síntesis de ácidos biliares tipo 4","synonyms":["BASD4","Deficiencia de 2-metilacil-CoA racemasa","Deficiencia de AMACR","Deficiencia de alfa-metilacil-CoA racemasa","Síndrome de enfermedad del hígado-retinosis pigmentaria-polineuropatía-epilepsia"],"definition":"El déficit congénito de síntesis de ácidos biliares tipo 4 (defecto de la SAB tipo 4) es una anomalía de la síntesis de ácidos biliares (consulte este término) caracterizado por: enfermedad hepática colestásica, malabsorción de grasas y/o enfermedad neurológica."},"it":{"name":"Difetto congenito della sintesi degli acidi biliari, tipo 4","definition":"Il difetto congenito della sintesi degli acidi biliari tipo 4 (difetto della BAS tipo 4) è un'anomalia della sintesi degli acidi biliari (si veda questo termine) caratterizzata da una malattia epatica colestatica non grave, malassorbimento dei grassi, e/o una malattia neurologica."},"nl":{"name":"Congenitaal defect van galzuursynthese type 4","synonyms":["BASD4","Deficiëntie van 2-methylacyl-CoA-racemase","Deficiëntie van alfa-methylacyl-CoA-racemase","Leverziekte - retinitis pigmentosa - polyneuropathie - epilepsie-syndroom","AMACR-deficiëntie"],"definition":"Een anomalie van synthese van galzuur, gekenmerkt door milde cholestatische leverziekte, malabsorptie van vet en/of neurologische ziekte."},"pt":{"name":"Defeito congénito da síntese de ácidos biliares tipo 4","synonyms":["BASD4","Deficiência de 2-metilacil-coA racemase","Deficiência de AMACR","Deficiência de alfa-metil-acil-coA racemase","Síndrome de doença hepática-retinite pigmentosa-polineuropatia-epilepsia"]},"pl":{"name":"Wrodzony defekt syntezy kwasów żółciowych typu 4","synonyms":["BASD4","Niedobór AMACR","Niedobór racemazy 2-metyloacylo-CoA","Niedobór racemazy alfa-metylo-acylo-CoA","Zespół choroby wątroby, barwnikowego zwyrodnienia siatkówki, polineuropatii i padaczka"]},"cs":{"name":"Vrozená porucha syntézy žlučových kyselin, typ 4","synonyms":["Deficit 2-methylacyl-CoA racemázy","Deficit AMACR","Deficit alfa-methyl-acyl-CoA racemázy","Syndrom zahrnující onemocnění jater, retinitis pigmentosa, polyneuropatii a epilepsii"]},"uk":{"name":"Вроджений дефект синтезу жовчних кислот, тип 4","synonyms":["Дефіцит 2-метилацил-КоА рацемази","Дефіцит альфа-метил-ацил-КоА-рацемази","Дефіцит AMACR","BASD4","Захворювання печінки-пігментна дегенерація сітківки-полінейропатія-епілептичний синдром"],"definition":"Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease."},"zh":{"name":"先天性胆汁酸合成障碍4型","synonyms":["肝病-色素性视网膜炎-多神经病变-癫痫综合征"]},"tr":{"name":"Doğumsal safra asidi sentez bozukluğu tip 4","synonyms":["BASD4","AMACR eksikliği","2-metilasil-CoA rasemaz eksikliği","Alfa-metil-asil-CoA rasemaz eksikliği","Karaciğer hastalığı-retinitis pigmentosa-polinöropati-epilepsi sendromu"]}},"xrefs":[{"source":"OMIM","code":"214950","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"614307","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K76.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C52.11","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1957485343"},{"source":"MONDO","code":"0008967","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535444","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3280428","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10046","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":485631,"name":"Congenital bile acid synthesis defect","classifications":[150,156,183,233]},{"orpha":309810,"name":"Disorder of peroxisomal alpha-, beta- and omega-oxidation","classifications":[150,156,233]},{"orpha":207018,"name":"Rare hereditary metabolic disease with peripheral neuropathy","classifications":[156,181]}],"children":[],"genes":[{"symbol":"AMACR","name":"alpha-methylacyl-CoA racemase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"18577977[PMID]","hgnc":"451","ensembl":"ENSG00000242110","omim":"604489","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"10655068[PMID]_12512044[PMID]_ [EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-11-26","source":"34267495[PMID]_31951345[PMID]_33047465[PMID]","terms":[{"hpo":"HP:0012379","label":"Abnormal enzyme/coenzyme activity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007141","label":"Sensorimotor neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002611","label":"Cholestatic liver disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003236","label":"Elevated circulating creatine kinase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200084","label":"Giant cell hepatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002573","label":"Hematochezia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030516","label":"Homonymous hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011892","label":"Low levels of vitamin K","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002354","label":"Memory impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002076","label":"Migraine","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003201","label":"Rhabdomyolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000763","label":"Sensory neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002401","label":"Stroke-like episode","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005978","label":"Type II diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null}]}}