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

ATRX
(UniProt - OMIM)
 PRKDC
(UniProt - OMIM)

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


Citations in the biomedical literature:


Carpenter-Waziri syndrome
ATRX
Severe combined immunodeficiency due to DNA-PKcs deficiency
PRKDC



Carpenter-Waziri syndrome
Severe combined immunodeficiency due to DNA-PKcs deficiency

Synonym(s):
(no synonyms)

Synonym(s):
- SCID due to DNA-PKcs deficiency
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
No signs/symptoms info available.