Details of Disease

General Information of Disease (ID: DISUA10A)

Disease Name Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Synonyms AUTOINFLAMMATION, antibody deficiency, and immune dysregulation, PLCG2-associated; APLAID; autoinflammation, antibody deficiency, and immune dysregulation syndrome
Disease Hierarchy
DISCMCGL: Autoinflammatory syndrome
DIS8I9FS: Hereditary disorder of connective tissue
DISUA10A: Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Disease Identifiers
MONDO ID
MONDO_0013944
UMLS CUI
C3553961
OMIM ID
614878
MedGen ID
766875
Orphanet ID
324530
SNOMED CT ID
778004006

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
PLCG2 OTGVC9MY Strong Autosomal dominant [1]
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References

1 A hypermorphic missense mutation in PLCG2, encoding phospholipase C2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet. 2012 Oct 5;91(4):713-20. doi: 10.1016/j.ajhg.2012.08.006. Epub 2012 Sep 20.