ORPHA:199348
Thiamine-responsive encephalopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent
- Status
- active
Thiamine-responsive encephalopathy is a Wernicke-like encephalopathy characterized by seizures responsive to high doses of thiamine.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thiamine-responsive encephalopathy | |
| fr | Encéphalopathie sensible à la thiamine | |
| de | Enzephalopathie, Thiamin-responsive | |
| es | Encefalopatía sensible a la tiamina | |
| it | Encefalopatia sensibile alla tiamina | |
| nl | Thiamineresponsieve encefalopathie | |
| pt | Encefalopatia sensível à tiamina | |
| pl | Encefalopatia reagująca na tiaminę | |
| cs | Thiamin-responzivní encefalopatie | |
| uk | Тіамін-чутлива енцефалопатія | |
| zh | 硫胺素反应性脑病 | |
| tr | Tiamine duyarlı ensefalopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607483 | NTBT | validated | |
| ICD-10 | E51.2 | NTBT | attributed | validated |
| ICD-11 | 5B5A.10 | NTBT | attributed | validated |
| UMLS | C5848322 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:298644Disorder of thiamine metabolism and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC19A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:16266 | ENSG00000135917 | 606152 | 2q36.3 | solute carrier family 19 member 3 | 19387023[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19387023[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19387023[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/199348
- This record as JSON: /data/d/199348.json