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Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
CLN3 disease
1 OMIM reference -
1 associated gene
No signs/symptoms info
Severe combined immunodeficiency due to DNA-PKcs deficiency
CLN3 disease

PRKDC
(UniProt - OMIM)
 CLN3
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PRKDC
(0.82)
CLN3


Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
CLN3 disease
CLN3



Severe combined immunodeficiency due to DNA-PKcs deficiency
CLN3 disease

Synonym(s):
- SCID due to DNA-PKcs deficiency
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references
No signs/symptoms info available.