Details of Disease

General Information of Disease (ID: DISFXSUU)

Disease Name Immunodeficiency 80 with or without congenital cardiomyopathy
Synonyms immunodeficiency 80 with or without congenital cardiomyopathy; IMD80; immunodeficiency with or without congenital cardiomyopathy; immunodeficiency 80 with or without cardiomyopathy; MCM10 deficiency
Definition
An autosomal recessive immunologic disorder with variable manifestations. One patient with infantile-onset of chronic cytomegalovirus (CMV) infection associated with severely decreased NK cells has been reported. Another family with 3 affected fetuses showing restrictive cardiomyopathy and hypoplasia of the spleen and thymus has also been reported.
Disease Hierarchy
DIS093I0: Immunodeficiency
DISFXSUU: Immunodeficiency 80 with or without congenital cardiomyopathy
Disease Identifiers
MONDO ID
MONDO_0030266
UMLS CUI
C5543344
OMIM ID
619313
MedGen ID
1786417

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
MCM10 OTV0O3JN Limited Autosomal recessive [1]
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References

1 Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 Oct 1;130(10):5272-5286. doi: 10.1172/JCI134966.