Details of Disease

General Information of Disease (ID: DISTWK6G)

Disease Name Combined immunodeficiency due to moesin deficiency
Synonyms
immunodeficiency 50, X-linked recessive; X-linked Moesin-associated immunodeficiency; immunodeficiency type 50; CID due to Moesin deficiency; immunodeficiency 50; IMD50; MSN-related combined immunodeficiency
Disease Hierarchy
DISKR6QJ: Combined immunodeficiency
DISNGCMN: Inborn error of immunity
DISTWK6G: Combined immunodeficiency due to moesin deficiency
Disease Identifiers
MONDO ID
MONDO_0010514
UMLS CUI
C5568123
OMIM ID
300988
MedGen ID
1799546
Orphanet ID
504530
SNOMED CT ID
1179285006

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
MSN OTZJ4J6G Definitive X-linked [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.