Cytoscape Web
Click node...

Familial hemophagocytic lymphohistiocytosis
5 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
1 OMIM reference -
1 associated gene
No signs/symptoms info
Familial hemophagocytic lymphohistiocytosis
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

PRF1
(UniProt - OMIM)
 IKBKG
(UniProt - OMIM)
STX11
(UniProt - OMIM)
STXBP2
(UniProt - OMIM)
UNC13D
(UniProt - OMIM)

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


Citations in the biomedical literature:


Familial hemophagocytic lymphohistiocytosis
PRF1 STX11 STXBP2 UNC13D
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
IKBKG



Familial hemophagocytic lymphohistiocytosis
X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

Synonym(s):
- Familial HLH
Synonym(s):
- X-linked MSMD due to IKBKG deficiency
- X-linked MSMD due to NEMO deficiency
- X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
Epidemiological data:
(no data available)
External references:
5 OMIM references -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.