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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
3 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypomyelination - hypogonadotropic hypogonadism - hypodontia

IKBKG POLR3A
NFKBIA POLR3B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.63)
POLR3A



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Hypomyelination - hypogonadotropic hypogonadism - hypodontia
POLR3A POLR3B



Hypohidrotic ectodermal dysplasia with immunodeficiency
Hypomyelination - hypogonadotropic hypogonadism - hypodontia

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID

Synonym(s):
- 4H syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare neurologic disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the digestive system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references

Hypomyelination - hypogonadotropic hypogonadism - hypodontia

Very frequent
- Anomalies of teeth and dentition
- Ataxia / incoordination / trouble of the equilibrium
- Late puberty / hypogonadism / hypogenitalism



Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)