{"orpha":394,"name":"Homocystinuria due to cystathionine beta-synthase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CBS-deficient HCU","Classical homocystinuria","Cystathionine beta-synthase deficiency","Cystathionine beta-synthase-deficient homocystinuria","Homocystinuria due to CBS deficiency"],"definition":"A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-394/","orphanet_url":"https://www.orpha.net/en/disease/detail/394","names":{"fr":{"name":"Homocystinurie par déficit en cystathionine bêta-synthase","synonyms":["Déficit en cystathionine bêta-synthase","HCU déficiente en CBS","Homocystinurie classique","Homocystinurie déficiente en cystathionine bêta-synthase","Homocystinurie par déficit en CBS"],"definition":"Maladie métabolique rare du catabolisme de la méthionine caractérisée par l'accumulation de méthionine et d'homocystéine avec atteinte clinique de l'oeil, du squelette, du système vasculaire et du système nerveux central."},"de":{"name":"Homocystinurie durch Cystathionin-beta-Synthase-Mangel","synonyms":["CBS-defiziente HCU","Cystathionin-beta-Synthase-Mangel","Homocystinurie durch CBS-Defizienz","Klassische Homocystinurie"],"definition":"Eine seltene Stoffwechselerkrankung des Methionin-Katabolismus, die durch eine Anhäufung von Methionin und Homocystein gekennzeichnet ist und klinisch das Auge, das Skelettsystem, das Gefäßsystem und das zentrale Nervensystem (ZNS) betrifft."},"es":{"name":"Homocistinuria por deficiencia de cistationina beta-sintasa","synonyms":["Deficiencia de cistationina beta-sintasa","Homocistinuria clásica","Homocistinuria por deficiencia de CBS"],"definition":"Es una enfermedad metabólica poco frecuente del catabolismo de la metionina caracterizada por el acúmulo de metionina y homocisteína con afectación clínica del ojo, el sistema esquelético, el sistema vascular y el sistema nervioso central (SNC)."},"it":{"name":"Omocistinuria da deficit di cistationina beta-sintasi","synonyms":["Deficit di cistationina beta-sintasi","HCU da deficit di CBS","Omocistinuria da deficit di CBS","Omocistinuria da deficit di cistationina beta-sintasi","Omocistinuria classica"]},"nl":{"name":"Homocystinurie door deficiëntie van cystathionine-bèta-synthase","synonyms":["CBS-deficiënte HCU","Cystathionine-bèta-synthase-deficiënte homocystinurie","Deficiëntie van cystathionine-bèta-synthase","Homocystinurie door CBS-deficiëntie","Klassieke homocystinurie"],"definition":"Een zeldzame metabole aandoening van katabolisme van methionine, gekenmerkt door accumulatie van methionine en homocysteïne met klinische betrokkenheid van oog, skelet, vasculair systeem en centraal zenuwstelsel (CZS)."},"pt":{"name":"Homocistinúria devida a deficiência de cistationina beta-sintetase","synonyms":["Deficiência de cistationina beta-sintetase","HCU CBS-deficiência relacionada","Homocistinúria devida a deficiência de cistationina beta-sintetase"],"definition":"Doença metabólica rara do catabolismo da metionina caracterizada pela acumulação de metionina e homocisteína com envolvimento clínico do sistema esquelético, sistema vascular, olho e sistema nervoso central (SNC)."},"pl":{"name":"Homocystynuria spowodowana niedoborem beta-syntazy cystationiny","synonyms":["Homocystynuria klasyczna","Niedobór beta-syntazy cystationu"],"definition":"Rzadka choroba metaboliczna związana z katabolizmem metioniny, charakteryzująca się gromadzeniem metioniny i homocysteiny, z klinicznymi następstwami w postaci zajęcia narządu wzroku, układu kostnego, układu naczyniowego i ośrodkowego układu nerwowego."},"cs":{"name":"Klasická homocystinurie","synonyms":["Deficit cystathionin beta-syntázy","Homocystinurie způsobená deficitem cystathionin beta-syntázy"],"definition":"Klasická homocysteinurie je onemocnění způsobené nedostatkem enzymu cystathionin beta-syntázy (CbS) a vyznačuje se postižením očí, kosterního, centrálního nervového a cévního systému."},"uk":{"name":"Гомоцистинурія внаслідок дефіциту цистатіонін-бета-синтази","synonyms":["Гомоцистінурія з дефіцитом CBS","Дефіцит цистатіонін-бета-синтази","Гомоцистинурія з дефіцитом цистатіонін-бета-синтази","Гомоцистинурія внаслідок дефіциту CBS"],"definition":"A rare metabolic disease of methionine catabolism characterized by accumulation of methionine and homocysteine with clinical involvement of the eye, skeletal system, vascular system and central nervous system (CNS)."},"zh":{"name":"经典型高胱氨酸尿症","synonyms":["胱硫醚β-合酶缺乏所致半胱氨酸尿症"]},"tr":{"name":"Klasik homosistinüri","synonyms":["Sistatiyonin beta-sentaz eksikliği","Sistatiyonin beta sentaz eksikliğine bağlı homosistinüri"]}},"xrefs":[{"source":"OMIM","code":"236200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1480749127"},{"source":"MONDO","code":"0009352","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751202","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6667","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10071093","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225689,"name":"Amino acid or protein metabolism disease with epilepsy","classifications":[156,181]},{"orpha":139009,"name":"Developmental anomaly of metabolic origin","classifications":[147,156]},{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":519292,"name":"Syndromic ectopia lentis","classifications":[147,189]},{"orpha":522554,"name":"Syndromic genetic ectopia lentis","classifications":[156]}],"children":[],"genes":[{"symbol":"CBS","name":"cystathionine beta-synthase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301697[PMID]","hgnc":"1550","ensembl":"ENSG00000160200","omim":"613381","loci":["21q22.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Worldwide","status":"Not yet validated","source":"10328723[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.65,"area":"Europe","status":"Validated","source":"European Medicines Agency 2001[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.5,"area":"Ireland","status":"Validated","source":"9587032[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.77,"area":"Germany","status":"Validated","source":"9587032[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":15.6,"area":"Norway","status":"Validated","source":"15192637[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Denmark","status":"Validated","source":"10328723[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.7,"area":"Australia","status":"Validated","source":"646432[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-5 / 10 000","value":55.5,"area":"Qatar","status":"Validated","source":"19914636[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.11,"area":"Japan","status":"Validated","source":"9587032[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-19","source":"27778219[PMID]_20301697[PMID]_36123115[PMID]","terms":[{"hpo":"HP:0004337","label":"Abnormality of amino acid metabolism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001166","label":"Arachnodactyly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000678","label":"Dental crowding","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001083","label":"Ectopia lentis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002160","label":"Hyperhomocystinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000646","label":"Amblyopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004420","label":"Arterial thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100026","label":"Arteriovenous malformation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002637","label":"Cerebral ischemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002808","label":"Kyphosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001132","label":"Lens subluxation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000768","label":"Pectus carinatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000767","label":"Pectus excavatum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002204","label":"Pulmonary embolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002209","label":"Sparse scalp hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004936","label":"Venous thrombosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002071","label":"Abnormality of extrapyramidal motor function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007703","label":"Abnormality of retinal pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","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:0000518","label":"Cataract","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033724","label":"Cerebral venous sinus thrombosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002040","label":"Esophageal varix","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000501","label":"Glaucoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004374","label":"Hemiplegia/hemiparesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100790","label":"Hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000218","label":"High palate","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001010","label":"Hypopigmentation of the skin","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0033505","label":"Livedo reticularis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025300","label":"Malar rash","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001733","label":"Pancreatitis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001300","label":"Parkinsonism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000709","label":"Psychosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000486","label":"Strabismus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001933","label":"Subcutaneous hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001025","label":"Urticaria","frequency":"Occasional (29-5%)","criteria":null}]}}