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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
2 associated genes
No signs/symptoms info
Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

IKBKG MUC1
NFKBIA UMOD


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.63)
MUC1



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia
MUC1 UMOD



Hypohidrotic ectodermal dysplasia with immunodeficiency
Autosomal dominant medullary cystic kidney disease with or without hyperuricemia

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

Synonym(s):
- Autosomal dominant nephronophthisis

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
(no data available)

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

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: 1-9 / 1 000 000
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.