Details of Disease

General Information of Disease (ID: DIS61XS7)

Disease Name Severe combined immunodeficiency due to CORO1A deficiency
Synonyms
immunodeficiency 8; IMD8; SCID due to coronin-1A deficiency; severe combined immunodeficiency due to CORO1A deficiency; immunodeficiency type 8; severe combined immunodeficiency due to coronin-1A deficiency; SCID due to CORO1A deficiency; coronin-1A deficiency
Disease Hierarchy
DISFRKM4: T-B+ severe combined immunodeficiency
DIS61XS7: Severe combined immunodeficiency due to CORO1A deficiency
Disease Identifiers
MONDO ID
MONDO_0014168
UMLS CUI
C3809383
OMIM ID
615401
MedGen ID
815713
Orphanet ID
228003
SNOMED CT ID
1229942009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CORO1A OTVAZOHC Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.