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Severe combined immunodeficiency due to CORO1A deficiency
1 OMIM reference -
1 associated gene
9 connected diseases
No signs/symptoms info
Disease Type of connection
Idiopathic juvenile osteoporosis
Autosomal dominant hyper-IgE syndrome
Aneurysm - osteoarthritis syndrome
B-cell chronic lymphocytic leukemia
Familial thoracic aortic aneurysm and aortic dissection
Treacher-Collins syndrome
Baraitser-Winter syndrome
Chronic granulomatous disease
Developmental malformations - deafness - dystonia
Synonym(s):
- SCID due to CORO1A deficiency
- SCID due to coronin-1A deficiency
- Severe combined immunodeficiency due to coronin-1A deficiency
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 / 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
CORO1A P31146605000
No signs/symptoms info available.