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Decreased circulating 12-HETE

MedGen UID:
1717477
Concept ID:
C5397602
Finding
Synonym: Decreased circulating 12-Hydroxyeicosatetraenoic acid concentration
 
HPO: HP:0032575

Definition

A reduction in the concentration of 12-HETE in the blood circulation, a metabolite of arachidonic acid. [from HPO]

Conditions with this feature

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
MedGen UID:
1799074
Concept ID:
C5567651
Disease or Syndrome
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).

Recent clinical studies

Etiology

Tada M, Kuzuya T, Hoshida S, Nishida M
J Mol Cell Cardiol 1988 Mar;20 Suppl 2:135-43. doi: 10.1016/0022-2828(88)90338-0. PMID: 3137347

Therapy

Walsh SW, Parisi VM
Semin Perinatol 1986 Oct;10(4):334-55. PMID: 3031819

Clinical prediction guides

Tada M, Kuzuya T, Hoshida S, Nishida M
J Mol Cell Cardiol 1988 Mar;20 Suppl 2:135-43. doi: 10.1016/0022-2828(88)90338-0. PMID: 3137347

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