Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Huntington disease

IKBKG HTT


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.56)
HTT



Citations in the biomedical literature:


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG
Huntington disease
HTT



Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Huntington disease

Synonym(s):
- OL-EDA-ID

Synonym(s):
- Huntington chorea

Classification (Orphanet):
- Rare bone disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

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

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: x-linked recessive
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D006816

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



Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

(no data available)