ORPHA:309833
Disorder of other vitamins and cofactors metabolism and transport
- 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 other vitamins and cofactors metabolism and transport | |
| fr | Anomalie du métabolisme et du transport des autres vitamines et cofacteurs | |
| de | Weitere Vitamin- und Kofaktor-Stoffwechsel- und Transportstörungen | |
| es | Trastornos del metabolismo y transporte de otras vitaminas y cofactores | |
| it | Difetto del trasporto e del metabolismo delle altre vitamine e dei cofattori | |
| nl | Stoornis van andere vitaminen en cofactoren-metabolisme en transport | |
| pt | Alteração de outras vitaminas e cofatores do metabolismo e transporte | |
| pl | Zaburzenia metabolizmu i transportu innych witamin i kofaktorów | |
| cs | Poruchy metabolismu a transportu jiných vitaminů a kofaktorů | |
| uk | Порушення метаболізму та транспорту інших вітамінів і кофакторів | |
| zh | 其他维生素和辅助因子代谢-转运障碍 | |
| tr | Diğer vitamin ve kofaktör metabolizması ve taşınmasında bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 17760 | E | validated | |
| UMLS | C5681036 | 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:309827Disorder of vitamin and non-protein cofactor absorption and transport
rare inborn errors of metabolism; rare genetic diseases
Children (11):
- ORPHA:96Ataxia with vitamin E deficiency
- ORPHA:79241Biotinidase deficiency
- ORPHA:98434Hereditary combined deficiency of vitamin K-dependent clotting factors
- ORPHA:199285Hereditary hypercarotenemia and vitamin A deficiency
- ORPHA:79242Holocarboxylase synthetase deficiency
- ORPHA:411712Maternal riboflavin deficiency
- ORPHA:157850Pantothenate kinase-associated neurodegeneration
- ORPHA:352718Progressive retinal dystrophy due to retinol transport defect
- ORPHA:79096Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
- ORPHA:521268Sodium-dependent multivitamin transporter deficiency
- ORPHA:99732Sulfite oxidase deficiency due to molybdenum cofactor 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.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/309833
- This record as JSON: /data/d/309833.json