BDPLT13
MCID: BLD123
MIFTS: 24

Bleeding Disorder, Platelet-Type, 13 (BDPLT13)

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

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

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

Name: Bleeding Disorder, Platelet-Type, 13 58
Bleeding Disorder Due to Defective Platelet Thromboxane A2 Receptor 58 76
Bleeding Disorder, Platelet-Type, 13, Susceptibility to 58 13
Platelet-Type Bleeding Disorder 13, Susceptibility to 30 6
Bdplt13 58 76
Bleeding Disorder, Susceptibility to, Due to Defective Platelet Thromboxane A2 Receptor 58
Bleeding Diathesis Due to Thromboxane Synthesis Deficiency 60
Bleeding Disorder, Platelet Type 13, Susceptibility to 41
Bleeding Disorder, Platelet-Type 13 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bleeding disorder, platelet-type, 13:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 614009
ICD10 via Orphanet 35 D69.8
Orphanet 60 ORPHA220443
MedGen 43 C3279614

Summaries for Bleeding Disorder, Platelet-Type, 13

OMIM : 58 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). Affiliated tissues include bone, and related phenotypes are impaired thromboxane a2 agonist-induced platelet aggregation and epistaxis

UniProtKB/Swiss-Prot : 76 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

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

33
# Description HPO Frequency HPO Source Accession
1 impaired thromboxane a2 agonist-induced platelet aggregation 33 very rare (1%) HP:0011894
2 epistaxis 33 HP:0000421
3 bruising susceptibility 33 HP:0000978
4 ecchymosis 33 HP:0031364

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
epistaxis

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

Skin Nails Hair Skin:
easy bruising
ecchymoses

Clinical features from OMIM:

614009

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 30 TBXA2R

Anatomical Context for Bleeding Disorder, Platelet-Type, 13

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 13:

42
Bone

Publications for Bleeding Disorder, Platelet-Type, 13

Articles related to Bleeding Disorder, Platelet-Type, 13:

# Title Authors Year
1
Multiscale prediction of patient-specific platelet function under flow. ( 22517902 )
2012
2
A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. ( 19828703 )
2010
3
Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. ( 8613548 )
1996
4
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. ( 7929844 )
1994
5
Defective signal transduction induced by thromboxane A2 in a patient with a mild bleeding disorder: impaired phospholipase C activation despite normal phospholipase A2 activation. ( 8428006 )
1993
6
Hemorrhagic thrombocytopathy with platelet thromboxane A2 receptor abnormality: defective signal transduction with normal binding activity. ( 2955539 )
1987

Variations for Bleeding Disorder, Platelet-Type, 13

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

76
# 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 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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