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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
No signs/symptoms info
Rubinstein-Taybi syndrome due to CREBBP mutations
Hypohidrotic ectodermal dysplasia with immunodeficiency

CREBBP IKBKG
NFKBIA


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CREBBP
(0.83)
IKBKG



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Hypohidrotic ectodermal dysplasia with immunodeficiency
IKBKG NFKBIA



Rubinstein-Taybi syndrome due to CREBBP mutations
Hypohidrotic ectodermal dysplasia with immunodeficiency

Synonym(s):
(no synonyms)

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

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

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

Epidemiological data:
(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

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

No signs/symptoms info available.