{"orpha":212,"name":"Cystathioninuria","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Cystathionase deficiency","Cystathionine gamma-lyase deficiency syndrome","Gamma-cystathionase deficiency"],"definition":"A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-212/","orphanet_url":"https://www.orpha.net/en/disease/detail/212","names":{"fr":{"name":"Cystathioninurie","synonyms":["Déficit en cystathionase","Déficit en cystathionine gamma-lyase","Déficit en gamma-cystathionase"],"definition":"Erreurs innées rares du métabolisme caractérisées par une accumulation anormale de cystathionine plasmatique et une augmentation ultérieure de l'excrétion urinaire due à une carence en cystathionine gamma-lyase. La maladie est considérée comme bénigne sans évolution pathologique. La maladie est transmise selon le mode autosomique récessif."},"de":{"name":"Cystathioninurie","synonyms":["Cystathionase-Mangel","Cystathionin-gamma-Lyase-Mangel","Gamma-Cystathionase-Mangel"],"definition":"Eine seltene angeborene Stoffwechselstörung, die durch eine abnorme Anhäufung von Plasmacystathionin und eine anschließende erhöhte Ausscheidung über den Urin aufgrund eines Mangels an Cystathionin-Gamma-Lyase gekennzeichnet ist. Die Erkrankung gilt als gutartig ohne pathologische Relevanz. Der Vererbungsmodus ist autosomal-rezessiv."},"es":{"name":"Cistationinuria","synonyms":["Deficiencia de cistationasa","Deficiencia de cistationina gamma-liasa","Deficiencia de gamma-cistationasa"],"definition":"Es un error congénito del metabolismo poco frecuente caracterizado por un acúmulo anómalo de cistationina plasmática con el posterior aumento en la excreción urinaria debido a la deficiencia de cistationina gamma-liasa. El trastorno se considera benigno y sin relevancia patológica. El modo de herencia es autosómico recesivo."},"it":{"name":"Cistationinuria","synonyms":["Deficit di cistationasi","Deficit di cistationina gamma-liasi","Deficit di gamma-cistationasi"],"definition":"Si tratta di un raro errore congenito del metabolismo, caratterizzato da un accumulo anomalo di cistationina plasmatica e dal suo conseguente aumento nelle urine, causato dal deficit della cistationina gamma-liasi. Si tratta di una malattia benigna priva di rilevanza clinica. La trasmissione è autosomica recessiva."},"nl":{"name":"Cystathioninurie","synonyms":["Deficiëntie van cystathionase","Deficiëntie van gamma-cystathionase","Syndroom van deficiëntie van cystathionine gamma-lyase"],"definition":"Een zeldzaam, aangeboren defect van stofwisseling, gekarakteriseerd door abnormale accumulatie van cystathionine in plasma en vervolgens verhoogde excretie in urine als gevolg van deficiëntie van cystathionine gamma-lyase. De aandoening wordt beschouwd als zijnde goedaardig, zonder pathologische relevantie. Overerving gebeurt autosomaal recessief."},"pt":{"name":"Cistationinúria","synonyms":["Deficiência de cistationase","Deficiência de gama-cistationase","Síndrome de deficiência de cistationina gama-liase"]},"pl":{"name":"Cystationinuria","synonyms":["Niedobóe gamma-cystationazy","Niedobór cystationazy","Niedobór liazy gamma - cystationu"]},"cs":{"name":"Cystathioninurie","synonyms":["Deficit cystathionázy","Syndrom deficitu cystathionin gamma-lyázy","Deficit gama-cystathionázy"]},"uk":{"name":"Цистатіонінурія","synonyms":["Дефіцит цистатіонази","Синдром дефіциту цистатіонін-гамма-ліази","Дефіцит гамма-цистатіонази"],"definition":"A rare inborn error of metabolism characterized by abnormal accumulation of plasma cystathionine and subsequent increased urinary excretion due to cystathionine gamma-lyase deficiency. The condition is considered benign without pathological relevance. Mode of inheritance is autosomal recessive."},"zh":{"name":"半胱胺甲硫胺酸尿症","synonyms":["胱硫醚γ-裂合酶缺乏综合征"]},"tr":{"name":"Sistationinüri","synonyms":["Sistatiyonaz eksikliği","Gama-sistatiyonaz eksikliği","Sistatiyonin gama-liyaz eksikliği sendromu"]}},"xrefs":[{"source":"OMIM","code":"219500","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":"1415819835"},{"source":"MONDO","code":"0009058","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C535408","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0220993","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2428","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","classifications":[150,156]}],"children":[],"genes":[{"symbol":"CTH","name":"cystathionine gamma-lyase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20584029[PMID]_19428278[PMID]","hgnc":"2501","ensembl":"ENSG00000116761","omim":"607657","loci":["1p31.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"Canada","status":"Validated","source":"519848[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.1,"area":"Canada","status":"Validated","source":"519848[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-05-14","source":"20584029[PMID]_5637757[PMID]_6082903[PMID]_14399948[PMID]","terms":[{"hpo":"HP:0003153","label":"Cystathioninuria","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003286","label":"Cystathioninemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000377","label":"Abnormal pinna morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Occasional (29-5%)","criteria":null}]}}