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6 OMIM references -
9 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
4 OMIM references -
4 associated genes
9 signs/symptoms
Isolated CoQ-cytochrome C reductase deficiency
Familial or sporadic hemiplegic migraine

BCS1L ATP1A2
CYC1 CACNA1A
LYRM7 PRRT2
MT-CYB SCN1A
TTC19
UQCC2
UQCRB
UQCRC2
UQCRQ


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
UQCRC2
(0.68)
CACNA1A



Citations in the biomedical literature:


Isolated CoQ-cytochrome C reductase deficiency
BCS1L CYC1 LYRM7 MT-CYB TTC19 UQCC2
UQCRB UQCRC2 UQCRQ
Familial or sporadic hemiplegic migraine
ATP1A2 CACNA1A PRRT2 SCN1A



Isolated CoQ-cytochrome C reductase deficiency
Familial or sporadic hemiplegic migraine

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):
- 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: 1-5 / 10 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

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

Familial or sporadic hemiplegic migraine

Very frequent
- Autosomal dominant inheritance
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Movement disorder

Frequent
- Ataxia / incoordination / trouble of the equilibrium
- Nystagmus

Occasional
- EEG anomalies
- Retinitis pigmentosa / retinal pigmentary changes
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia


Isolated CoQ-cytochrome C reductase deficiency

(no data available)