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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
2 OMIM references -
10 associated genes
No signs/symptoms info
Huntington disease
Leber hereditary optic neuropathy

HTT MT-ATP6
MT-CO1
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND4
MT-ND4L
MT-ND5
MT-ND6


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Huntington disease
HTT
Leber hereditary optic neuropathy
MT-ATP6 MT-CO1 MT-CO3 MT-CYB MT-ND1 MT-ND2
MT-ND4 MT-ND4L MT-ND5 MT-ND6



Huntington disease
Leber hereditary optic neuropathy

Synonym(s):
- Huntington chorea

Synonym(s):
- LHON
- Leber optic atrophy

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic 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: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
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:
1 OMIM reference -
1 MeSH reference: D006816
External references:
2 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



Leber hereditary optic neuropathy

(no data available)