Cytoscape Web
Click node...

Severe combined immunodeficiency due to DNA-PKcs deficiency
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
Congenital cataracts - facial dysmorphism - neuropathy
1 OMIM reference -
1 associated gene
24 signs/symptoms
Severe combined immunodeficiency due to DNA-PKcs deficiency
Congenital cataracts - facial dysmorphism - neuropathy

PRKDC
(UniProt - OMIM)
 CTDP1
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
PRKDC
(0.52)
CTDP1


Citations in the biomedical literature:


Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC
Congenital cataracts - facial dysmorphism - neuropathy
CTDP1



Severe combined immunodeficiency due to DNA-PKcs deficiency
Congenital cataracts - facial dysmorphism - neuropathy

Synonym(s):
- SCID due to DNA-PKcs deficiency
Synonym(s):
- CCFDN
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- 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):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
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
Congenital cataracts - facial dysmorphism - neuropathy

Very frequent
- Autosomal recessive inheritance
- Camptodactyly of fingers
- Cataract / lens opacification
- Intrauterine growth retardation
- Late puberty / hypogonadism / hypogenitalism
- Long midface
- Long / large / bulbous nose
- Microcornea
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nerve conduction abnormality
- Short stature / dwarfism / nanism

Frequent
- Anomalies of spine, vertebrae and pelvis
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Long / thick / curved lashes / trichomegaly / polytrichia
- Muscle anomalies
- Nystagmus
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Strabismus / squint

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Dilated cerebral ventricles without hydrocephaly
- Kyphosis
- Movement disorder
- Scoliosis


Severe combined immunodeficiency due to DNA-PKcs deficiency

(no data available)