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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 3
14 associated genes
No signs/symptoms info
Huntington disease
Leigh syndrome with leukodystrophy

HTT COX10
LIPT1
NDUFA10
NDUFA2
NDUFAF6
NDUFS1
NDUFS3
NDUFS4
NDUFS7
NDUFS8
NDUFV1
SDHA
SLC19A3
SURF1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
HTT
HTT
(0.68)
(0.68)
(0.68)
NDUFS1
NDUFS3
NDUFV1



Citations in the biomedical literature:


Huntington disease
HTT
Leigh syndrome with leukodystrophy
COX10 LIPT1 NDUFA10 NDUFA2 NDUFAF6 NDUFS1
NDUFS3 NDUFS4 NDUFS7 NDUFS8 NDUFV1 SDHA
SLC19A3 SURF1



Huntington disease
Leigh syndrome with leukodystrophy

Synonym(s):
- Huntington chorea

Synonym(s):
- Infantile subacute necrotizing encephalopathy with leukodystrophy
- Leigh disease with leukodystrophy

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:
Class of prevalence: -
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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 leukodystrophy

(no data available)