{"orpha":79173,"name":"Disorder of methionine cycle and sulfur amino acid metabolism","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Cytosolic methyl group transfer or sulfur amino acid metabolism disorder"],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-79173/","orphanet_url":"https://www.orpha.net/en/disease/detail/79173","names":{"fr":{"name":"Trouble du métabolisme du cycle de la méthionine et des acides aminés sulfurés","synonyms":["Anomalie du métabolisme des acides aminés sulfurés et du transfert cytosolique du groupement méthyle"]},"de":{"name":"Störung des Methionin-/schwefelhaltige Aminosäuren-Stoffwechsels","synonyms":["Störung des zytosolischen Methylgruppentransfers oder schwefelhaltige Aminosäuren-Stoffwechselstörung"]},"es":{"name":"Enfermedad del ciclo de la metionina y del metabolismo de los aminoácidos del azufre","synonyms":["Anomalía del metabolismo de los aminoácidos del azufre o del transporte citosólico del grupo metilo"]},"it":{"name":"Malattia del metabolismo degli amminoacidi sulfurei e del ciclo della metionina","synonyms":["Difetto del metabolismo degli amminoacidi sulfurei o del trasporto citosolico del gruppo metile"]},"nl":{"name":"Stoornis van methioninecyclus en metabolisme van zwavelhoudende aminozuren","synonyms":["Stoornis van cytosolische methylgroeptransfer of metabolisme van zwavelhoudende aminozuren"]},"pt":{"name":"Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metilo"},"pl":{"name":"Zaburzenie cyklu metioniny i metabolizmu aminokwasów siarkowych","synonyms":["Zaburzenie transferu cytozolowych grup metylowych lub metabolizmu aminokwasów siarkowych"]},"cs":{"name":"Poruchy methioninového cyklu a metabolismu sirných aminokyselin","synonyms":["Poruchy cytosolového přenosu methylových skupin nebo metabolismu sirných aminokyselin"]},"uk":{"name":"Порушення метіонінового циклу та обміну сірковмісних амінокислот","synonyms":["Цитозольне перенесення метильних груп або порушення метаболізму сірковмісних амінокислот"]},"zh":{"name":"甲硫氨酸循环和含硫氨基酸代谢异常","synonyms":["胞质甲基转移或硫氨基酸代谢紊乱"]},"tr":{"name":"Metiyonin döngüsü ve kükürt amino asit metabolizması bozukluğu","synonyms":["Sitosolik metil grubu transferi veya sülfür amino asit metabolizması bozukluğu"]}},"xrefs":[{"source":"ICD-10","code":"E72.1","qualifier":"E","icd_relation":"specific","validated":true},{"source":"ICD-11","code":"5C50.B","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"67872354"},{"source":"MONDO","code":"0019222","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"19222","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680126","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79062,"name":"Disorder of amino acid and other organic acid metabolism","classifications":[150,156]}],"children":[{"orpha":562538,"name":"Autosomal recessive extra-oral halitosis","type":"Disease"},{"orpha":1035,"name":"Beta-mercaptolactate cysteine disulfiduria","type":"Biological anomaly"},{"orpha":212,"name":"Cystathioninuria","type":"Disease"},{"orpha":619979,"name":"Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome","type":"Disease"},{"orpha":833,"name":"Encephalopathy due to sulfite oxidase deficiency","type":"Disease"},{"orpha":394,"name":"Homocystinuria due to cystathionine beta-synthase deficiency","type":"Disease"},{"orpha":622,"name":"Homocystinuria without methylmalonic aciduria","type":"Disease"},{"orpha":289891,"name":"Hypermethioninemia due to glycine N-methyltransferase deficiency","type":"Disease"},{"orpha":289290,"name":"Hypermethioninemia encephalopathy due to adenosine kinase deficiency","type":"Disease"},{"orpha":168598,"name":"Methionine adenosyltransferase I/III deficiency","type":"Disease"},{"orpha":88618,"name":"S-adenosylhomocysteine hydrolase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}