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Huntington disease
1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Leigh syndrome with cardiomyopathy
8 associated genes
No signs/symptoms info
Huntington disease
Leigh syndrome with cardiomyopathy

HTT
(UniProt - OMIM)
 COA5
(UniProt - OMIM)
COX10
(UniProt - OMIM)
COX15
(UniProt - OMIM)
COX6B1
(UniProt - OMIM)
PDHA1
(UniProt - OMIM)
SCO2
(UniProt - OMIM)
SURF1
(UniProt - OMIM)
TACO1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
HTT
(0.68)
COX6B1


Citations in the biomedical literature:


Huntington disease
HTT
Leigh syndrome with cardiomyopathy
COA5 COX10 COX15 COX6B1 PDHA1 SCO2
SURF1 TACO1



Huntington disease
Leigh syndrome with cardiomyopathy

Synonym(s):
- Huntington chorea
Synonym(s):
- Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency
- Cardiomyopathy with myopathy due to COX deficiency
- Leigh disease with myopathy
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- 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: 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:
No OMIM references
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



Leigh syndrome with cardiomyopathy

(no data available)