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Thiamine-responsive encephalopathy
1 OMIM reference -
1 associated gene
3 connected diseases
No signs/symptoms info
Disease Type of connection
Biotin-responsive basal ganglia disease
Infantile spams - psychomotor retardation - progressive brain atrophy - basal ganglia disease
Leigh syndrome with leukodystrophy
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SLC19A3 Q9BZV2606152
No signs/symptoms info available.