ORPHA:79193
Disorder of pyrimidine 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 pyrimidine metabolism | |
| fr | Trouble du métabolisme de la pyrimidine | |
| de | Pyrimidin-Stoffwechselstörung | |
| es | Enfermedad del metabolismo de la pirimidina | |
| it | Malattia del metabolismo della pirimidina | |
| nl | Stoornis van pyrimidinemetabolisme | |
| pt | Doença do metabolismo das pirimidinas | |
| pl | Zaburzenie metabolizmu pirymidyn | |
| cs | Poruchy metabolismu pyrimidinů | |
| uk | Порушення метаболізму піримідинів | |
| zh | 嘧啶代谢异常 | |
| tr | Pirimidin metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C55.1 | E | specific | validated |
| MONDO | 0019238 | E | validated | |
| MONDO | 19238 | E | validated | |
| UMLS | C0268127 | E | validated | |
| MedDRA | 10070969 | 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:79224Disorder of purine or pyrimidine metabolism
rare inborn errors of metabolism; rare genetic diseases
Children (9):
- ORPHA:65287Beta-ureidopropionase deficiency
- ORPHA:448010CAD-CDG
- ORPHA:1675Dihydropyrimidine dehydrogenase deficiency
- ORPHA:38874Dihydropyrimidinuria
- ORPHA:35120Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
- ORPHA:30Hereditary orotic aciduria
- ORPHA:309147Hyper-beta-alaninemia
- ORPHA:298Mitochondrial neurogastrointestinal encephalomyopathy
- ORPHA:254875TK2-related mitochondrial DNA maintenance defect, myopathic form
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/79193
- This record as JSON: /data/d/79193.json