Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 2
9 OMIM references -
10 associated genes
No signs/symptoms info
Huntington disease
Early infantile epileptic encephalopathy

HTT ARX
CACNA2D2
GNAO1
KCNQ2
PLCB1
SCN2A
SCN8A
SLC25A22
SPTAN1
STXBP1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
HTT
(0.68)
(0.68)
GNAO1
STXBP1



Citations in the biomedical literature:


Huntington disease
HTT
Early infantile epileptic encephalopathy
ARX CACNA2D2 GNAO1 KCNQ2 PLCB1 SCN2A
SCN8A SLC25A22 SPTAN1 STXBP1



Huntington disease
Early infantile epileptic encephalopathy

Synonym(s):
- Huntington chorea

Synonym(s):
- EIEE
- Early infantile epileptic encephalopathy with suppression-bursts
- Ohtahara syndrome

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

External references:
1 OMIM reference -
1 MeSH reference: D006816
External references:
9 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



Early infantile epileptic encephalopathy

(no data available)