Details of Disease | DrugMAP

General Information of Disease (ID: DIST64N5)

Disease Name	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Synonyms	GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP; Phospholipase A2, Group Iva, Deficiency of; PLA2G4A-related platelet dysfunction; cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder; platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency
Disease Hierarchy	DISGPMUQ: Intestinal disorder DIS1DL2M: Inherited blood coagulation disorder DISIUNXT: Inherited bleeding disorder, platelet-type DIST64N5: Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Disease Identifiers	MONDO ID MONDO_0018794 UMLS CUI C5567651 OMIM ID 618372 MedGen ID 1799074 Orphanet ID 477787 SNOMED CT ID 1172901009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PLA2G4A	DE08Z3W	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLA2G4A	OTE70SOT	Strong	Autosomal recessive	[1]
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References

1	Inherited human cPLA(2alpha) deficiency is associated with impaired eicosanoid biosynthesis, small intestinal ulceration, and platelet dysfunction. J Clin Invest. 2008 Jun;118(6):2121-31. doi: 10.1172/JCI30473.