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Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Intrahepatic cholestasis of pregnancy
2 OMIM references -
4 associated genes
No signs/symptoms info
Severe combined immunodeficiency due to DNA-PKcs deficiency
Intrahepatic cholestasis of pregnancy

PRKDC
(UniProt - OMIM)
 ABCB11
(UniProt - OMIM)
ABCB4
(UniProt - OMIM)
ATP8B1
(UniProt - OMIM)
NR1H4
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PRKDC
(0.68)
NR1H4


Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
Intrahepatic cholestasis of pregnancy
ABCB11 ABCB4 ATP8B1 NR1H4



Severe combined immunodeficiency due to DNA-PKcs deficiency
Intrahepatic cholestasis of pregnancy

Synonym(s):
- SCID due to DNA-PKcs deficiency
Synonym(s):
- Gravidic intrahepatic cholestasis
- Pregnancy-related cholestasis
- Recurrent intrahepatic cholestasis of pregnancy
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare gynecologic or obstetric disease
- Rare hepatic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Pregnancy, childbirth and the puerperium -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
1 MeSH reference: C535932
No signs/symptoms info available.