Details of Disease

General Information of Disease (ID: DISKW4V2)

Disease Name Immunodeficiency 23
Synonyms
PGM3-CDG; immunodeficiency with hyper IgE and cognitive impairment; IMD23; CID due to PGM3 deficiency; combined inflammatory and immunologic defect; phosphoglucomutase deficiency type 3; immunodeficiency type 23; immunodeficiency-vasculitis-myoclonus syndrome; immunodeficiency 23; combined immunodeficiency due to PGM3 deficiency; phosphoglucomutase 3 deficiency; PGM3-EXACT congenital disorder of glycosylation
Disease Hierarchy
DISO85MT: Disorder of multiple glycosylation
DIS093I0: Immunodeficiency
DISKW4V2: Immunodeficiency 23
Disease Identifiers
MONDO ID
MONDO_0014353
UMLS CUI
C4014371
OMIM ID
615816
MedGen ID
862808
Orphanet ID
443811
SNOMED CT ID
1187623009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
PGM3 DER0EN5 moderate Biomarker [1]
PGM3 DER0EN5 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
PGM3 OTHS1ZSP Definitive Autosomal recessive [2]
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References

1 Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.
2 PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 Jul 3;95(1):96-107. doi: 10.1016/j.ajhg.2014.05.007. Epub 2014 Jun 12.