ORPHA:79191
Disorder of purine 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 purine metabolism | |
| fr | Trouble du métabolisme de la purine | |
| de | Purin-Stoffwechselstörung | |
| es | Enfermedad del metabolismo de las purinas | |
| it | Malattia del metabolismo della purina | |
| nl | Stoornis van purinemetabolisme | |
| pt | Doença do metabolismo das purinas | |
| pl | Zaburzenie metabolizmu puryn | |
| cs | Poruchy metabolismu purinů | |
| uk | Порушення пуринового обміну | |
| zh | 嘌呤代谢异常 | |
| tr | Pürin metabolizması bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C55.0 | E | specific | validated |
| MONDO | 0019236 | E | validated | |
| MONDO | 19236 | E | validated | |
| UMLS | C0268104 | E | validated | |
| MedDRA | 10061476 | 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 (18):
- ORPHA:250977AICA-ribosiduria
- ORPHA:976Adenine phosphoribosyltransferase deficiency
- ORPHA:45Adenosine monophosphate deaminase deficiency
- ORPHA:46Adenylosuccinate lyase deficiency
- ORPHA:124Diamond-Blackfan anemia
- ORPHA:99138Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- ORPHA:3467Hereditary xanthinuria
- ORPHA:206428Hypoxanthine-guanine phosphoribosyltransferase deficiency
- ORPHA:457375ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
- ORPHA:1187Lethal ataxia with deafness and optic atrophy
- ORPHA:279934Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
- ORPHA:633099PAICS deficiency
- ORPHA:708651Phosphoribosylformylglycinamidine synthase deficiency
- ORPHA:3222Phosphoribosylpyrophosphate synthetase superactivity
- ORPHA:760Purine nucleoside phosphorylase deficiency
- ORPHA:277T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency
- ORPHA:99014X-linked Charcot-Marie-Tooth disease type 5
- ORPHA:423479X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
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/79191
- This record as JSON: /data/d/79191.json