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2 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
5 signs/symptoms
Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial cylindromatosis

IKBKG CYLD
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.87)
CYLD



Citations in the biomedical literature:


Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA
Familial cylindromatosis
CYLD



Hypohidrotic ectodermal dysplasia with immunodeficiency
Familial cylindromatosis

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

Synonym(s):
- Turban tumor syndrome

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare immune disease
- Rare skin disease
Classification (Orphanet):
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
(no data available)

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:
1 OMIM reference -
1 MeSH reference: C536611

Familial cylindromatosis

Very frequent
- Autosomal dominant inheritance
- Scalp cyst / giant nevus
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Telangiectasiae of the skin



Hypohidrotic ectodermal dysplasia with immunodeficiency

(no data available)