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Hypohidrotic ectodermal dysplasia with immunodeficiency
2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
4 OMIM references -
4 associated genes
No signs/symptoms info
Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

IKBKG
(UniProt - OMIM)
 ARHGDIA
(UniProt - OMIM)
NFKBIA
(UniProt - OMIM)
 PLCE1
(UniProt - OMIM)
PTPRO
(UniProt - OMIM)
WT1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
IKBKG
(0.56)
ARHGDIA


Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
ARHGDIA PLCE1 PTPRO WT1



Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis

Synonym(s):
- Anhidrotic ectodermal dysplasia with immunodeficiency
- EDA-ID
- HED-ID
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare renal disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the genitourinary 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:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
4 OMIM references -
No MeSH references
No signs/symptoms info available.