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1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
3 signs/symptoms
Severe combined immunodeficiency due to DNA-PKcs deficiency
Hereditary vascular retinopathy

PRKDC TREX1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PRKDC
(0.52)
TREX1



Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
Hereditary vascular retinopathy
TREX1



Severe combined immunodeficiency due to DNA-PKcs deficiency
Hereditary vascular retinopathy

Synonym(s):
- SCID due to DNA-PKcs deficiency

Synonym(s):
- HVR
- Hereditary vascular retinopathy - Raynaud phenomenon - migraine

Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare eye disease
- 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):
(no data available)

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Hereditary vascular retinopathy

Very frequent
- Anomalies of eyes and vision
- Autosomal dominant inheritance
- Visual loss / blindness / amblyopia



Severe combined immunodeficiency due to DNA-PKcs deficiency

(no data available)