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1 OMIM reference -
1 associated gene
8 signs/symptoms
PROTEIN INTERACTIONS: 1
11 OMIM references -
12 associated genes
No signs/symptoms info
Huntington disease
Autosomal recessive primary microcephaly

HTT ASPM
CASC5
CDK5RAP2
CDK6
CENPJ
CEP135
CEP152
CEP63
MCPH1
PHC1
STIL
WDR62


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HTT
(0.63)
CEP63



Citations in the biomedical literature:


Huntington disease
HTT
Autosomal recessive primary microcephaly
ASPM CASC5 CDK5RAP2 CDK6 CENPJ CEP135
CEP152 CEP63 MCPH1 PHC1 STIL WDR62



Huntington disease
Autosomal recessive primary microcephaly

Synonym(s):
- Huntington chorea

Synonym(s):
- MCPH
- Microcephalia vera
- Microcephaly vera
- True microcephaly

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: unknown
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:
11 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



Autosomal recessive primary microcephaly

(no data available)