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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
6 signs/symptoms
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial multiple trichoepithelioma

IKBKG CYLD


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG
Familial multiple trichoepithelioma
CYLD



Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial multiple trichoepithelioma

Synonym(s):
- OL-EDA-ID

Synonym(s):
(no synonyms)

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 eye disease
- Rare genetic disease
- Rare oncologic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Neoplasms -

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: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C536552

Familial multiple trichoepithelioma

Very frequent
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Skin tumors / lumps / epidermal cysts
- Subcutaneous nodules / lipomas / tumefaction / swelling

Frequent
- Telangiectasiae of the skin

Occasional
- Skin / cutaneous neoplasm / tumor / carcinoma / cancer (excluding melanoma)


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema

(no data available)