ORPHA:521268
Sodium-dependent multivitamin transporter deficiency
- Type
- Disease
- Group
- Disorder
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sodium-dependent multivitamin transporter deficiency | |
| fr | SLC5A6-CDG | |
| de | Natriumabhängiger Multivitamin-Transporter-Mangel | |
| es | Deficiencia del transportador multivitamínico dependiente de sodio | Trastorno congénito de la glicosilación asociado al gen SLC5A6 |
| it | SLC5A6-CDG | |
| nl | Deficiëntie van natriumafhankelijke multivitaminetransporter | |
| pt | Deficiência do transportador multivitamínico dependente de sódio | |
| pl | SLC5A6-CDG | Wrodzone zaburzenie glikozydacji związane z SLC5A6 |
| cs | SLC5A6-CDG | Vrozená porucha glykosylace související s SLC5A6 |
| uk | ЗАСТАРІЛО: SLC5A6-CDG | Вроджене порушення глікозилювання, повязане з SLC5A6 |
| zh | 弃用：SLC5A6基因-常染色体阴性遗传细胞色素阳性慢性肉芽肿症I型 | SLC5A6基因-常染色体阴性遗传细胞色素阳性慢性肉芽肿症I型 |
| tr | ESKİ: SLC5A6-CDG | SLC5A6-ilişkili doğumsal glikozilasyon bozukluğu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E88.8 | NTBT | attributed | validated |
| ICD-11 | 5C63.Y | NTBT | attributed | 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 (2):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:207018Rare hereditary metabolic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
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/521268
- This record as JSON: /data/d/521268.json