BLEEDING DISORDER, PLATELET-TYPE, 12

General Information (adopted from Orphanet):

Synonyms, Signs: PLATELET COX1 DEFICIENCY
PGHS1 DEFICIENCY
PROSTAGLANDIN-ENDOPEROXIDE SYNTHASE 1 DEFICIENCY, PLATELET
BDPLT12
PLATELET CYCLOOXYGENASE 1 DEFICIENCY
Number of Symptoms 13
OrphanetNr:
OMIM Id: 605735
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000132) Menorrhagia 40 / 7739
2
(HPO:0000421) Epistaxis 85 / 7739
3
(HPO:0005261) Joint hemorrhage 17 / 7739
4
(HPO:0002584) Intestinal bleeding 16 / 7739
5
(HPO:0002239) Gastrointestinal hemorrhage 97 / 7739
6
(HPO:0000978) Bruising susceptibility 123 / 7739
7
(HPO:0003540) Impaired platelet aggregation 17 / 7739
8
(HPO:0003577) Congenital onset 133 / 7739
9
(OMIM) Prostaglandin-endoperoxide synthase 1 (PTGS1, 176805) deficiency in platelets 1 / 7739
10
(OMIM) Post-surgical bleeding 1 / 7739
11
(OMIM) Increased bleeding (menorrhagia, gastrointestinal bleeding, hemarthroses) 1 / 7739
12
(OMIM) Platelets cannot synthesize thromboxane A2 from arachidonic acid 1 / 7739
13
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Malmsten et al. (1975) studied a 30-year-old man with a tendency to easy bruising and retinal bleeding at age 19. An uncle had excessive bleeding twice during surgery. Laboratory studies showed impaired platelet aggregation due to a deficiency ...