ORPHA:79173
Disorder of methionine cycle and sulfur amino acid metabolism
Synonyms: Cytosolic methyl group transfer or sulfur amino acid metabolism disorder
- Type
- Category
- Group
- Group of disorders
- Status
- active
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of methionine cycle and sulfur amino acid metabolism | Cytosolic methyl group transfer or sulfur amino acid metabolism disorder |
| fr | Trouble du métabolisme du cycle de la méthionine et des acides aminés sulfurés | Anomalie du métabolisme des acides aminés sulfurés et du transfert cytosolique du groupement méthyle |
| de | Störung des Methionin-/schwefelhaltige Aminosäuren-Stoffwechsels | Störung des zytosolischen Methylgruppentransfers oder schwefelhaltige Aminosäuren-Stoffwechselstörung |
| es | Enfermedad del ciclo de la metionina y del metabolismo de los aminoácidos del azufre | Anomalía del metabolismo de los aminoácidos del azufre o del transporte citosólico del grupo metilo |
| it | Malattia del metabolismo degli amminoacidi sulfurei e del ciclo della metionina | Difetto del metabolismo degli amminoacidi sulfurei o del trasporto citosolico del gruppo metile |
| nl | Stoornis van methioninecyclus en metabolisme van zwavelhoudende aminozuren | Stoornis van cytosolische methylgroeptransfer of metabolisme van zwavelhoudende aminozuren |
| pt | Doença do metabolismo dos aminoácidos sulfurados ou da transferência citosólica do grupo metilo | |
| pl | Zaburzenie cyklu metioniny i metabolizmu aminokwasów siarkowych | Zaburzenie transferu cytozolowych grup metylowych lub metabolizmu aminokwasów siarkowych |
| cs | Poruchy methioninového cyklu a metabolismu sirných aminokyselin | Poruchy cytosolového přenosu methylových skupin nebo metabolismu sirných aminokyselin |
| uk | Порушення метіонінового циклу та обміну сірковмісних амінокислот | Цитозольне перенесення метильних груп або порушення метаболізму сірковмісних амінокислот |
| zh | 甲硫氨酸循环和含硫氨基酸代谢异常 | 胞质甲基转移或硫氨基酸代谢紊乱 |
| tr | Metiyonin döngüsü ve kükürt amino asit metabolizması bozukluğu | Sitosolik metil grubu transferi veya sülfür amino asit metabolizması bozukluğu |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E72.1 | E | specific | validated |
| ICD-11 | 5C50.B | E | specific | validated |
| MONDO | 0019222 | E | validated | |
| MONDO | 19222 | E | validated | |
| UMLS | C5680126 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79062Disorder of amino acid and other organic acid metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (11):
- ORPHA:562538Autosomal recessive extra-oral halitosis
- ORPHA:1035Beta-mercaptolactate cysteine disulfiduria
- ORPHA:212Cystathioninuria
- ORPHA:619979Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
- ORPHA:833Encephalopathy due to sulfite oxidase deficiency
- ORPHA:394Homocystinuria due to cystathionine beta-synthase deficiency
- ORPHA:622Homocystinuria without methylmalonic aciduria
- ORPHA:289891Hypermethioninemia due to glycine N-methyltransferase deficiency
- ORPHA:289290Hypermethioninemia encephalopathy due to adenosine kinase deficiency
- ORPHA:168598Methionine adenosyltransferase I/III deficiency
- ORPHA:88618S-adenosylhomocysteine hydrolase deficiency
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79173
- This record as JSON: /data/d/79173.json