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 57
Bleeding Disorder Due to Defective Platelet Thromboxane A2 Receptor 57 75
Bleeding Disorder, Platelet-Type, 13, Susceptibility to 57 13
Platelet-Type Bleeding Disorder 13, Susceptibility to 29 6
Bdplt13 57 75
Bleeding Disorder, Susceptibility to, Due to Defective Platelet Thromboxane A2 Receptor 57
Bleeding Diathesis Due to Thromboxane Synthesis Deficiency 59
Bleeding Disorder, Platelet Type 13, Susceptibility to 40
Bleeding Disorder, Platelet-Type 13 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
bleeding disorder, platelet-type, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614009
Orphanet 59 ORPHA220443
ICD10 via Orphanet 34 D69.8
MedGen 42 C3279614

Summaries for Bleeding Disorder, Platelet-Type, 13

OMIM : 57 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. An important gene associated with Bleeding Disorder, Platelet-Type, 13 is TBXA2R (Thromboxane A2 Receptor). Related phenotypes are epistaxis and bruising susceptibility

UniProtKB/Swiss-Prot : 75 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:

57
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:

32
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 bruising susceptibility 32 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 29 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:

75
# 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.179G> T (p.Arg60Leu) single nucleotide variant risk factor rs34377097 GRCh38 Chromosome 19, 3600456: 3600456
3 TBXA2R NM_001060.5(TBXA2R): c.910G> A (p.Asp304Asn) single nucleotide variant risk factor rs387906691 GRCh37 Chromosome 19, 3595808: 3595808
4 TBXA2R NM_001060.5(TBXA2R): c.910G> A (p.Asp304Asn) single nucleotide variant risk factor rs387906691 GRCh38 Chromosome 19, 3595810: 3595810
5 TBXA2R NM_001060.5(TBXA2R): c.722T> G (p.Val241Gly) single nucleotide variant risk factor rs397514542 GRCh37 Chromosome 19, 3599911: 3599911
6 TBXA2R NM_001060.5(TBXA2R): c.722T> G (p.Val241Gly) single nucleotide variant risk factor rs397514542 GRCh38 Chromosome 19, 3599913: 3599913

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
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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