BDPLT12
MCID: BLD154
MIFTS: 22

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 58
Prostaglandin-Endoperoxide Synthase 1 Deficiency, Platelet 58 74
Platelet Cyclooxygenase 1 Deficiency 58 12
Platelet-Type Bleeding Disorder 12 12 15
Platelet Cox1 Deficiency 58 12
Pghs1 Deficiency 58 12
Bdplt12 58 12
Platelet Prostaglandin-Endoperoxide Synthase 1 Deficiency 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
congenital onset


HPO:

33
bleeding disorder, platelet-type, 12:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bleeding Disorder, Platelet-Type, 12

OMIM : 58 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)

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). Affiliated tissues include bone, and related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : 12 An inherited blood coagulation 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:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 epistaxis 33 HP:0000421
2 bruising susceptibility 33 HP:0000978
3 menorrhagia 33 HP:0000132
4 intestinal bleeding 33 HP:0002584
5 joint hemorrhage 33 HP:0005261
6 impaired platelet aggregation 33 HP:0003540

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
epistaxis

Abdomen Gastrointestinal:
gastrointestinal bleeding

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

Skin Nails Hair Skin:
easy bruising

Skeletal Limbs:
hemarthroses

Clinical features from OMIM:

605735

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

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 12:

42
Bone

Publications for Bleeding Disorder, Platelet-Type, 12

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

GO Terms for Bleeding Disorder, Platelet-Type, 12

Sources for Bleeding Disorder, Platelet-Type, 12

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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