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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
2 signs/symptoms
Huntington disease
Hereditary hyperferritinemia with congenital cataracts

HTT FTL


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
FTL



Citations in the biomedical literature:


Huntington disease
HTT
Hereditary hyperferritinemia with congenital cataracts
FTL



Huntington disease
Hereditary hyperferritinemia with congenital cataracts

Synonym(s):
- Huntington chorea

Synonym(s):
- Bonneau-Beaumont syndrome
- HHCS
- Hereditary hyperferritinemia-cataract syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- 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 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
1 OMIM reference -
1 MeSH reference: C538137

Huntington disease
Hereditary hyperferritinemia with congenital cataracts

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



Very frequent
- Cataract / lens opacification
- Metabolic anomalies