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Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Microcephaly - seizures - developmental delay
1 OMIM reference -
1 associated gene
6 signs/symptoms
Severe combined immunodeficiency due to DNA-PKcs deficiency
Microcephaly - seizures - developmental delay

PRKDC
(UniProt - OMIM)
 PNKP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PRKDC
(0.63)
PNKP


Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
Microcephaly - seizures - developmental delay
PNKP



Severe combined immunodeficiency due to DNA-PKcs deficiency
Microcephaly - seizures - developmental delay

Synonym(s):
- SCID due to DNA-PKcs deficiency
Synonym(s):
- MCSZ
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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: 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
Microcephaly - seizures - developmental delay

Very frequent
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Hyperactivity / attention deficit
- Psychic / behavioural troubles



Severe combined immunodeficiency due to DNA-PKcs deficiency

(no data available)