Cytoscape Web
Click node...


6 OMIM references -
9 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
2 OMIM references -
4 associated genes
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
Leigh syndrome with nephrotic syndrome

BCS1L BCS1L
CYC1 COQ2
LYRM7 DLD
MT-CYB PDSS2
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


COMMON
GENES
BCS1L


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UQCRC2
(0.49)
DLD



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Leigh syndrome with nephrotic syndrome
COQ2 DLD PDSS2



Isolated CoQ-cytochrome C reductase deficiency
Leigh syndrome with nephrotic syndrome

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 nephrotic syndrome
- Leigh disease with nephrotic syndrome

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:
2 OMIM references -
No MeSH references

No signs/symptoms info available.