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6 OMIM references -
9 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
Renal tubulopathy - encephalopathy - liver failure

BCS1L BCS1L
CYC1
LYRM7
MT-CYB
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


COMMON
GENES
BCS1L



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Renal tubulopathy - encephalopathy - liver failure



Isolated CoQ-cytochrome C reductase deficiency
Renal tubulopathy - encephalopathy - liver failure

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

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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:
1 OMIM reference -
No MeSH references

No signs/symptoms info available.