ORPHA:285657
Disorder of folate 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 folate metabolism and transport | |
| fr | Anomalie du métabolisme et du transport des folates | |
| de | Folsäure-Stoffwechsel- und Transportstörung | Störung des Folat-Stoffwechsels |
| es | Trastorno del metabolismo y transporte del folato | |
| it | Difetto del metabolismo e del trasporto del folato | |
| nl | Stoornis van foliumzuurmetabolisme en -transport | Stoornis van folaatmetabolisme en -transport |
| pt | Doença do metabolismo do folato | |
| pl | Zaburzenia metabolizmu i transportu kwasu foliowego | |
| cs | Porucha metabolizmu a transportu folátů | |
| uk | Порушення метаболізму та транспорту фолатів | |
| zh | 叶酸代谢和转运障碍 | |
| tr | Folat metabolizması ve taşınmasında bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | 5C63.1 | E | specific | validated |
| MONDO | 0017313 | E | validated | |
| MONDO | 17313 | E | validated | |
| UMLS | C5681010 | 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 (8):
- ORPHA:658813Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
- ORPHA:319651Constitutional megaloblastic anemia with severe neurologic disease
- ORPHA:51208Formiminoglutamic aciduria
- ORPHA:90045Hereditary folate malabsorption
- ORPHA:395Homocystinuria due to methylene tetrahydrofolate reductase deficiency
- ORPHA:597874MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
- ORPHA:661412Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
- ORPHA:217382Neurodegenerative syndrome due to cerebral folate transport 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/285657
- This record as JSON: /data/d/285657.json