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Severe combined immunodeficiency due to DCLRE1C deficiency
1 OMIM reference -
1 associated gene
19 connected diseases
No signs/symptoms info
Disease Type of connection
Omenn syndrome
Hereditary breast and ovarian cancer syndrome
Familial prostate cancer
Severe combined immunodeficiency due to DNA-PKcs deficiency
Ataxia-telangiectasia
Ataxia-telangiectasia variant
B-cell chronic lymphocytic leukemia
Combined cervical dystonia
Mantle cell lymphoma
Xeroderma pigmentosum complementation group E
Ataxia-telangiectasia-like disorder
Familial pancreatic carcinoma
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Nijmegen breakage syndrome
Nijmegen breakage syndrome-like disorder
Primary peritoneal carcinoma
Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Seckel syndrome
Synonym(s):
- SCID due to DCLRE1C deficiency
- SCID due to artemis deficiency
- SCID, Athabascan type
- SCID, Athabaskan type
- Severe combined immunodeficiency due to artemis deficiency
- Severe combined immunodeficiency, Athabascan type
- Severe combined immunodeficiency, Athabaskan type
Classification (Orphanet):
- Rare genetic disease
- Rare immune disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DCLRE1C Q96SD1605988
No signs/symptoms info available.