ORPHA:298644
Disorder of thiamine metabolism and transport
- Type
- Category
- Group
- Group of disorders
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- 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 thiamine metabolism and transport | |
| fr | Anomalie du métabolisme et du transport de la thiamine | |
| de | Thiamin-Stoffwechsel- und Transportstörungen | |
| es | Trastorno del metabolismo y transporte de la tiamina | |
| it | Difetto del metabolismo e del trasporto della tiamina | |
| nl | Stoornis van thiaminemetabolisme en -transport | |
| pt | Doença do metabolismo da tiamina | |
| pl | Zaburzenia metabolizmu i transportu tiaminy | |
| cs | Poruchy metabolismu a transportu thiaminu | |
| uk | Порушення метаболізму та транспорту тіаміну | |
| zh | 硫胺素代谢和转运障碍 | |
| tr | Tiamin metabolizması ve taşınmasında bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0017578 | E | validated | |
| MONDO | 17578 | E | validated | |
| UMLS | C5681092 | 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 (7):
- ORPHA:99742Amish lethal microcephaly
- ORPHA:65284Biotin-thiamine-responsive basal ganglia disease
- ORPHA:293955Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
- ORPHA:263410Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
- ORPHA:217396Progressive polyneuropathy with bilateral striatal necrosis
- ORPHA:199348Thiamine-responsive encephalopathy
- ORPHA:49827Thiamine-responsive megaloblastic anemia syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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/298644
- This record as JSON: /data/d/298644.json