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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
4 associated genes
No signs/symptoms info
Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial hemophagocytic lymphohistiocytosis

IKBKG PRF1
STX11
STXBP2
UNC13D


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
IKBKG
(0.63)
STX11



Citations in the biomedical literature:


Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
IKBKG
Familial hemophagocytic lymphohistiocytosis
PRF1 STX11 STXBP2 UNC13D



Anhidrotic ectodermal dysplasia - immunodeficiency - osteopetrosis - lymphedema
Familial hemophagocytic lymphohistiocytosis

Synonym(s):
- OL-EDA-ID

Synonym(s):
- Familial HLH

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 genetic disease
- Rare immune disease
- Rare neurologic 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:
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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

No signs/symptoms info available.