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Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder(GURDP)

MedGen UID:
1799074
Concept ID:
C5567651
Disease or Syndrome
Synonyms: Deficiency of phospholipase A2, group IVA; GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS; GURDP
SNOMED CT: PLA2G4A (phospholipase A2 group IVA) related platelet dysfunction (1172901009); PLA2G4A-related platelet dysfunction (1172901009); Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency (1172901009); Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder (1172901009)
Modes of inheritance:
 
PLA2G4A (1q31.1)
 
Monarch Initiative: MONDO:0018794
OMIM®: 618372
Orphanet: ORPHA477787

Definition

Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa (summary by Adler et al., 2008 and Faioni et al., 2014). [from OMIM]

Clinical features

From HPO

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

Recent clinical studies

Etiology

Faioni EM, Razzari C, Zulueta A, Femia EA, Fenu L, Trinchera M, Podda GM, Pugliano M, Marongiu F, Cattaneo M
Thromb Haemost 2014 Dec;112(6):1182-9. Epub 2014 Aug 7 doi: 10.1160/TH14-04-0352. PMID: 25102815

Diagnosis

Faioni EM, Razzari C, Zulueta A, Femia EA, Fenu L, Trinchera M, Podda GM, Pugliano M, Marongiu F, Cattaneo M
Thromb Haemost 2014 Dec;112(6):1182-9. Epub 2014 Aug 7 doi: 10.1160/TH14-04-0352. PMID: 25102815

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