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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 5
14 associated genes
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
Leigh syndrome with leukodystrophy

BCS1L COX10
CYC1 LIPT1
LYRM7 NDUFA10
MT-CYB NDUFA2
TTC19 NDUFAF6
UQCC2 NDUFS1
UQCRB NDUFS3
UQCRC2 NDUFS4
UQCRQ NDUFS7
NDUFS8
NDUFV1
SDHA
SLC19A3
SURF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
CYC1
CYC1
UQCRB
UQCRQ
(0.49)
(0.49)
(0.49)
(0.49)
(0.49)
NDUFS4
NDUFS8
SURF1
NDUFS4
NDUFA2



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Leigh syndrome with leukodystrophy
COX10 LIPT1 NDUFA10 NDUFA2 NDUFAF6 NDUFS1
NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 SDHA
SLC19A3 SURF1



Isolated CoQ-cytochrome C reductase deficiency
Leigh syndrome with leukodystrophy

Synonym(s):
- Isolated coenzyme Q-cytochrome C reductase deficiency
- Isolated mitochondrial respiratory chain complex III deficiency
- Isolated ubiquinone-cytochrome C reductase deficiency

Synonym(s):
- Infantile subacute necrotizing encephalopathy with leukodystrophy
- Leigh disease with leukodystrophy

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic 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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

No signs/symptoms info available.