ORPHA:79197
Disorder of branched-chain amino acid metabolism
- 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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Disorder of branched-chain amino acid metabolism | |
| fr | Trouble du métabolisme des acides aminés à chaînes ramifiées | |
| de | Verzweigte Aminosäuren-Stoffwechselstörung | |
| es | Enfermedad del metabolismo de los aminoácidos de cadena ramificada | |
| it | Difetto del metabolismo degli aminoacidi a catena ramificata | |
| nl | Stoornis van vertakte keten-aminozuurmetabolisme | |
| pt | Doença do metabolismo de aminoácidos de cadeia ramificada | |
| pl | Zaburzenie metabolizmu rozgałęzionych łańcuchów aminokwasów | |
| cs | Poruchy metabolismu větvených aminokyselin | |
| uk | Порушення обміну амінокислот з розгалуженим ланцюгом | |
| zh | 支链氨基酸代谢异常 | |
| tr | Dallı zincirli amino asit metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C50.D | E | specific | validated |
| MONDO | 0019242 | E | validated | |
| MONDO | 19242 | E | validated | |
| UMLS | C0342712 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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 (4):
- ORPHA:308410Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
- ORPHA:289307Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
- ORPHA:401948Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
- ORPHA:511Maple syrup urine disease
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79197
- This record as JSON: /data/d/79197.json