BDPLT12
MCID: BLD154
MIFTS: 27

Bleeding Disorder, Platelet-Type, 12 (BDPLT12)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 12

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 12:

Name: Bleeding Disorder, Platelet-Type, 12 57
Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet 57 70
Platelet Cyclooxygenase 1 Deficiency 57 12
Platelet-Type Bleeding Disorder 12 12 15
Platelet Cox1 Deficiency 57 12
Pghs1 Deficiency 57 12
Bdplt12 57 12
Platelet Prostaglandin-Endoperoxide Synthase 1 Deficiency 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
congenital onset

Inheritance:
autosomal dominant


HPO:

31
bleeding disorder, platelet-type, 12:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111058
OMIM® 57 605735
MedGen 41 C2751535
UMLS 70 C2751535

Summaries for Bleeding Disorder, Platelet-Type, 12

OMIM® : 57 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). (605735) (Updated 20-May-2021)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 12, also known as prostaglandin-endoperoxide synthase 1 deficiency, platelet, is related to prostaglandin-endoperoxide synthase deficiency. An important gene associated with Bleeding Disorder, Platelet-Type, 12 is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Arachidonic acid metabolism and Platelet activation. Related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : 12 A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity.

Related Diseases for Bleeding Disorder, Platelet-Type, 12

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 12

Human phenotypes related to Bleeding Disorder, Platelet-Type, 12:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978
3 intestinal bleeding 31 HP:0002584
4 menorrhagia 31 HP:0000132
5 joint hemorrhage 31 HP:0005261
6 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising

Hematology:
platelet aggregation defect
increased bleeding (menorrhagia, gastrointestinal bleeding, hemarthroses)
post-surgical bleeding
prostaglandin-endoperoxide synthase 1 (ptgs1, ) deficiency in platelets
platelets cannot synthesize thromboxane a2 from arachidonic acid

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
gastrointestinal bleeding

Skeletal Limbs:
hemarthroses

Clinical features from OMIM®:

605735 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Bleeding Disorder, Platelet-Type, 12 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-121 9.4 NAAA
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-161 9.4 NAAA
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.4 PTGS1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.4 NAAA
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.4 NAAA
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.4 PTGS1

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 12

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 12

Genetic Tests for Bleeding Disorder, Platelet-Type, 12

Anatomical Context for Bleeding Disorder, Platelet-Type, 12

Publications for Bleeding Disorder, Platelet-Type, 12

Articles related to Bleeding Disorder, Platelet-Type, 12:

# Title Authors PMID Year
1
Characterization of a partial prostaglandin endoperoxide H synthase-1 deficiency in a patient with a bleeding disorder. 57
11442478 2001
2
Vascular thromboxane formation in hemostasis mechanism: correlation between bleeding time and vascular TXB2 in a patient with congenital platelet cyclo-oxygenase deficiency. 57
8762815 1996
3
Bleeding disorder due to platelet prostaglandin H synthase-1 (PGHS-1) deficiency. 57
8562397 1996
4
Familial and constitutional bleeding disorder due to platelet cyclo-oxygenase deficiency. 57
6404162 1983
5
Congenital deficiency of thromboxane and prostacyclin. 57
6103258 1980
6
Inherited defective platelet aggregation with arachidonate as the main expression of a defective metabolism of arachidonic acid. 57
483266 1979
7
Impairment of platelet thromboxane A2 generation and of the platelet release reaction in two patients with congenital deficiency of platelet cyclo-oxygenase. 57
205238 1978
8
Physiological role of an endoperoxide in human platelets: hemostatic defect due to platelet cyclo-oxygenase deficiency. 57
1055417 1975

Variations for Bleeding Disorder, Platelet-Type, 12

Expression for Bleeding Disorder, Platelet-Type, 12

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 12.

Pathways for Bleeding Disorder, Platelet-Type, 12

Pathways related to Bleeding Disorder, Platelet-Type, 12 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.69 TBXAS1 PTGS1
2 11.55 TBXAS1 PTGS1
3
Show member pathways
11.49 TBXAS1 PTGS1
4 11.17 TBXAS1 PTGS1
5 11.08 TBXAS1 PTGS1
6 10.8 TBXAS1 PTGS1
7 10.7 TBXAS1 PTGS1
8
Show member pathways
10.59 TBXAS1 PTGS1
9 10.34 TBXAS1 PTGS1
10 9.98 TBXAS1 PTGS1

GO Terms for Bleeding Disorder, Platelet-Type, 12

Biological processes related to Bleeding Disorder, Platelet-Type, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.5 TBXAS1 PTGS1 NAAA
2 fatty acid biosynthetic process GO:0006633 9.37 TBXAS1 PTGS1
3 prostaglandin metabolic process GO:0006693 9.26 TBXAS1 PTGS1
4 prostaglandin biosynthetic process GO:0001516 9.16 TBXAS1 PTGS1
5 cyclooxygenase pathway GO:0019371 8.96 TBXAS1 PTGS1
6 fatty acid metabolic process GO:0006631 8.8 TBXAS1 PTGS1 NAAA

Molecular functions related to Bleeding Disorder, Platelet-Type, 12 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.62 TBXAS1 PTGS1

Sources for Bleeding Disorder, Platelet-Type, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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