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6 OMIM references -
9 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
2 OMIM references -
10 associated genes
No signs/symptoms info
Isolated CoQ-cytochrome C reductase deficiency
Leber hereditary optic neuropathy

BCS1L MT-ATP6
CYC1 MT-CO1
LYRM7 MT-CO3
MT-CYB MT-CYB
TTC19 MT-ND1
UQCC2 MT-ND2
UQCRB MT-ND4
UQCRC2 MT-ND4L
UQCRQ MT-ND5
MT-ND6


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
Leber hereditary optic neuropathy
MT-ATP6 MT-CO1 MT-CO3 MT-ND1 MT-ND2
MT-ND4 MT-ND4L MT-ND5 MT-ND6



Isolated CoQ-cytochrome C reductase deficiency
Leber hereditary optic neuropathy

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

Synonym(s):
- LHON
- Leber optic atrophy

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the eye and adnexa -

Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: adolescence / young
Average age of death: normal
Type of inheritance: mitochondrial inheritance

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

No signs/symptoms info available.