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Dopa-responsive dystonia due to sepiapterin reductase deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Leigh syndrome with cardiomyopathy
8 associated genes
No signs/symptoms info
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Leigh syndrome with cardiomyopathy

SPR
(UniProt - OMIM)
 COA5
(UniProt - OMIM)
COX10
(UniProt - OMIM)
COX15
(UniProt - OMIM)
COX6B1
(UniProt - OMIM)
PDHA1
(UniProt - OMIM)
SCO2
(UniProt - OMIM)
SURF1
(UniProt - OMIM)
TACO1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
SPR
(0.49)
SCO2


Citations in the biomedical literature:


Dopa-responsive dystonia due to sepiapterin reductase deficiency
SPR
Leigh syndrome with cardiomyopathy
COA5 COX10 COX15 COX6B1 PDHA1 SCO2
SURF1 TACO1



Dopa-responsive dystonia due to sepiapterin reductase deficiency
Leigh syndrome with cardiomyopathy

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
Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
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
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.