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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 3
1 OMIM reference -
11 associated genes
No signs/symptoms info
Huntington disease
Isolated cytochrome C oxidase deficiency

HTT CEP89
COA5
COX14
COX20
COX6B1
FASTKD2
MT-CO1
MT-CO2
MT-CO3
NDUFA4
PET100


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
HTT
HTT
(0.68)
(0.68)
(0.68)
COX6B1
MT-CO2
MT-CO3



Citations in the biomedical literature:


Huntington disease
HTT
Isolated cytochrome C oxidase deficiency
CEP89 COA5 COX14 COX20 COX6B1 FASTKD2
MT-CO1 MT-CO2 MT-CO3 NDUFA4 PET100



Huntington disease
Isolated cytochrome C oxidase deficiency

Synonym(s):
- Huntington chorea

Synonym(s):
- Isolated COX deficiency
- Isolated mitochondrial respiratory chain complex IV deficiency

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
1 OMIM reference -
No MeSH references

Huntington disease

Frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal dominant inheritance
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Hypertonia / spasticity / rigidity / stiffness
- Movement disorder
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline



Isolated cytochrome C oxidase deficiency

(no data available)