Details of Disease

General Information of Disease (ID: DISXTLCK)

Disease Name Granulocytopenia with immunoglobulin abnormality
Synonyms granulocytopenia with immunoglobulin abnormality; immunodeficiency 59 and hypoglycemia
Disease Hierarchy
DISYKSRF: Genetic disease
DISXTLCK: Granulocytopenia with immunoglobulin abnormality
Disease Identifiers
MONDO ID
MONDO_0009305
MESH ID
C565535
UMLS CUI
C1856263
OMIM ID
233600
MedGen ID
383874

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
HYOU1 OTBGBSOV Limited Unknown [1]
------------------------------------------------------------------------------------

References

1 Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1. J Allergy Clin Immunol. 2017 Apr;139(4):1391-1393.e11. doi: 10.1016/j.jaci.2016.09.050. Epub 2016 Nov 29.