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6 OMIM references -
9 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
Histiocytoid cardiomyopathy

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


COMMON
GENES
MT-CYB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CYC1
(0.61)
MT-CYB



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Histiocytoid cardiomyopathy



Isolated CoQ-cytochrome C reductase deficiency
Histiocytoid cardiomyopathy

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

Synonym(s):
- Foamy myocardial transformation of infancy
- Infantile cardiomyopathy with histiocytoid change
- Infantile xanthomatous cardiomyopathy
- Oncocytic cardiomyopathy

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
6 OMIM references -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C535584

No signs/symptoms info available.