Details of Disease

General Information of Disease (ID: DISN42Z1)

Disease Name Monocytopenia with susceptibility to infections
Synonyms
Dendritic cell, monocyte, B lymphocyte, and natural Killer lymphocyte deficiency; GATA2 deficiency; monocytopenia with susceptibility to mycobacterial, fungal, and Papillomavirus infections and myelodysplasia; monocyte - B - natural killer - dendritic cell deficiency; immunodeficiency 21; DCML; IMD21; combined immunodeficiency with susceptibility to mycobacterial, viral, and fungal infections; immunodeficiency type 21; Dendritic cell, monocyte, B and NK lymphoid deficiency; monocytopenia and mycobacterial infection syndrome; monocyte-B-natural killer-dendritic cell deficiency syndrome; MonoMAC; combined immunodeficiency with susceptibility to mycobacterial, viral and fungal infections
Disease Hierarchy
DISDOU6F: GATA2 deficiency with susceptibility to MDS/AML
DISN42Z1: Monocytopenia with susceptibility to infections
Disease Identifiers
MONDO ID
MONDO_0013607
MESH ID
D000077428
UMLS CUI
C3280030
OMIM ID
614172
MedGen ID
481660
Orphanet ID
228423
SNOMED CT ID
778024005

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
GATA2 OTBP2QQ2 Definitive Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.