MCID: BLD123
MIFTS: 20

Bleeding Disorder, Platelet-Type, 13

Categories: Genetic diseases, Blood diseases, Rare diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 13

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 13:

Name: Bleeding Disorder, Platelet-Type, 13 53
Bleeding Disorder Due to Defective Platelet Thromboxane A2 Receptor 53 71
Bleeding Disorder, Platelet-Type, 13, Susceptibility to 53 13
Bdplt13 53 71
Bleeding Disorder, Susceptibility to, Due to Defective Platelet Thromboxane A2 Receptor 53
Bleeding Diathesis Due to Thromboxane Synthesis Deficiency 55
Platelet-Type Bleeding Disorder 13, Susceptibility to 28
Bleeding Disorder, Platelet-Type 13 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
bleeding disorder, platelet-type, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 614009
Orphanet 55 ORPHA220443
ICD10 via Orphanet 33 D69.8
MedGen 39 C3279614

Summaries for Bleeding Disorder, Platelet-Type, 13

OMIM : 53 Susceptibility to platelet-type bleeding disorder-13 is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010). (614009)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 13, is also known as bleeding disorder due to defective platelet thromboxane a2 receptor, and has symptoms including epistaxis and bruising susceptibility. An important gene associated with Bleeding Disorder, Platelet-Type, 13 is TBXA2R (Thromboxane A2 Receptor).

UniProtKB/Swiss-Prot : 71 Bleeding disorder, platelet-type 13: A disorder characterized by reduced platelet aggregation and a tendency to mild mucocutaneous bleeding.

Related Diseases for Bleeding Disorder, Platelet-Type, 13

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 13

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Nose:
epistaxis

Hematology:
bleeding tendency, mild
defective platelet aggregation in response to arachidonic acid
defective platelet calcium mobilization
normal platelet count
normal serum thromboxane b2

Skin Nails Hair Skin:
ecchymoses
easy bruising


Clinical features from OMIM:

614009

Human phenotypes related to Bleeding Disorder, Platelet-Type, 13:

31
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 13

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 13

Genetic Tests for Bleeding Disorder, Platelet-Type, 13

Genetic tests related to Bleeding Disorder, Platelet-Type, 13:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 13, Susceptibility to 28 TBXA2R

Anatomical Context for Bleeding Disorder, Platelet-Type, 13

Publications for Bleeding Disorder, Platelet-Type, 13

Variations for Bleeding Disorder, Platelet-Type, 13

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 13:

71
# Symbol AA change Variation ID SNP ID
1 TBXA2R p.Arg60Leu VAR_003515 rs34377097

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 13:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TBXA2R NM_001060.5(TBXA2R): c.179G> T (p.Arg60Leu) single nucleotide variant risk factor rs34377097 GRCh37 Chromosome 19, 3600454: 3600454
2 TBXA2R NM_001060.5(TBXA2R): c.910G> A (p.Asp304Asn) single nucleotide variant risk factor rs387906691 GRCh37 Chromosome 19, 3595808: 3595808
3 TBXA2R NM_001060.5(TBXA2R): c.722T> G (p.Val241Gly) single nucleotide variant risk factor rs397514542 GRCh37 Chromosome 19, 3599911: 3599911

Expression for Bleeding Disorder, Platelet-Type, 13

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 13.

Pathways for Bleeding Disorder, Platelet-Type, 13

GO Terms for Bleeding Disorder, Platelet-Type, 13

Sources for Bleeding Disorder, Platelet-Type, 13

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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