ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Severe combined immunodeficiency due to DCLRE1C deficiency

Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DCLRE1C	(0.52)	ATR

Citations in the biomedical literature:

Severe combined immunodeficiency due to DCLRE1C deficiency		Familial cutaneous telangiectasia and oropharyngeal predisposition cancer 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		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare genetic disease - Rare immune disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease - Rare skin 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: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

No signs/symptoms info available.