Bleeding disorder, platelet-type, 12

Preferred Label : Bleeding disorder, platelet-type, 12;

Symbol : BDPLT12;

CISMeF acronym : BDPLT12;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Prostaglandin-endoperoxide synthase 1 deficiency, platelet; Platelet cyclooxygenase 1 deficiency; Platelet cox1 deficiency; Pghs1 deficiency;

Description : Platelet prostaglandin-endoperoxidase synthase-1 deficiency is a hematologic disorder characterized by mildly increased bleeding due to a platelet defect. The PTGS1 gene (176805) encodes prostaglandin-endoperoxidase synthase-1, also known as COX1 or PGHS1, which catalyzes the formation of prostaglandin G2 (PGG2) and prostaglandin H2 from arachidonic acid, and the downstream formation of thromboxane A2 (TXA2) and prostacyclin. Thromboxane A2 is important for platelet aggregation (summary by Matijevic-Aleksic et al., 1996).;

Inheritance : Autosomal dominant;

Prefixed ID : %605735;

Details

Origin ID

605735;

UMLS CUI

C2751535;

Currated CISMeF NLP mapping
- Prostaglandin-Endoperoxide synthase 1 deficiency, platelet [MeSH concept]
- Prostaglandin-Endoperoxide synthase 1 deficiency, platelet [MeSH Supplementary Concept]
- platelet-type bleeding disorder 12 [DO Concept]
DO Cross reference
- platelet-type bleeding disorder 12 [DO Concept]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Congenital onset [HPO term]
- Epistaxis [HPO term]
- Hemarthroses [HPO term]
- Impaired platelet aggregation [HPO term]
- Intestinal bleeding [HPO term]
- Joint hemorrhage [HPO term]
- Menorrhagia [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Prostaglandin-Endoperoxide synthase 1 deficiency, platelet [MeSH Supplementary Concept]
- Prostaglandin-Endoperoxide synthase 1 deficiency, platelet [MeSH concept]
- platelet-type bleeding disorder 12 [DO Concept]

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