Cytoscape Web
Click node...

Dopa-responsive dystonia due to sepiapterin reductase deficiency
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Acute neonatal citrullinemia type I
Adult-onset citrullinemia type I
Fatal infantile cytochrome C oxidase deficiency
Idiopathic aplastic anemia
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with cardiomyopathy
Leigh syndrome with leukodystrophy
Rare isolated myopia
Shwachman-Diamond syndrome
Synonym(s):
- Autosomal recessive sepiapterin reductase-deficient DRD
- DRD autosomique récessive par déficit en sépiaptérine réductase
- DRD due to SRD
- SPR deficiency
- Sepiapterin reductase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SPR P35270182125
No signs/symptoms info available.