BDPLT13
MCID: BLD123
MIFTS: 22

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 56
Bleeding Disorder Due to Defective Platelet Thromboxane A2 Receptor 56 73
Bleeding Disorder, Platelet-Type, 13, Susceptibility to 56 13
Platelet-Type Bleeding Disorder 13, Susceptibility to 29 6
Bdplt13 56 73
Bleeding Disorder, Susceptibility to, Due to Defective Platelet Thromboxane A2 Receptor 56
Bleeding Diathesis Due to Thromboxane Synthesis Deficiency 58
Bleeding Disorder, Platelet Type 13, Susceptibility to 39
Bleeding Disorder, Platelet-Type 13 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 614009
OMIM Phenotypic Series 56 PS231200
ICD10 via Orphanet 33 D69.8
Orphanet 58 ORPHA220443
MedGen 41 C3279614

Summaries for Bleeding Disorder, Platelet-Type, 13

OMIM : 56 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 : 73 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:

31
# Description HPO Frequency HPO Source Accession
1 impaired thromboxane a2 agonist-induced platelet aggregation 31 very rare (1%) HP:0011894
2 epistaxis 31 HP:0000421
3 bruising susceptibility 31 HP:0000978
4 ecchymosis 31 HP:0031364

Symptoms via clinical synopsis from OMIM:

56
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 29 TBXA2R

Anatomical Context for Bleeding Disorder, Platelet-Type, 13

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

40
Bone

Publications for Bleeding Disorder, Platelet-Type, 13

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

# Title Authors PMID Year
1
Multiscale prediction of patient-specific platelet function under flow. 56 6
22517902 2012
2
A novel thromboxane A2 receptor D304N variant that abrogates ligand binding in a patient with a bleeding diathesis. 56 6
19828703 2010
3
Arg60 to Leu mutation of the human thromboxane A2 receptor in a dominantly inherited bleeding disorder. 56 6
7929844 1994
4
Defective signal transduction induced by thromboxane A2 in a patient with a mild bleeding disorder: impaired phospholipase C activation despite normal phospholipase A2 activation. 56 6
8428006 1993
5
Hemorrhagic thrombocytopathy with platelet thromboxane A2 receptor abnormality: defective signal transduction with normal binding activity. 56 6
2955539 1987
6
Two thromboxane A2 receptor isoforms in human platelets. Opposite coupling to adenylyl cyclase with different sensitivity to Arg60 to Leu mutation. 6
8613548 1996
7
Impaired platelet response to thromboxane-A2 and defective calcium mobilization in a patient with a bleeding disorder. 56
7459434 1981
8
Possible congenital defect in platelet thromboxane synthetase. 56
66560 1977

Variations for Bleeding Disorder, Platelet-Type, 13

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

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBXA2R NM_001060.5(TBXA2R):c.910G>A (p.Asp304Asn)SNV risk factor 29905 rs387906691 19:3595808-3595808 19:3595810-3595810
2 TBXA2R NM_001060.5(TBXA2R):c.722T>G (p.Val241Gly)SNV risk factor 39590 rs397514542 19:3599911-3599911 19:3599913-3599913
3 TBXA2R NM_001060.5(TBXA2R):c.179G>T (p.Arg60Leu)SNV Benign 12712 rs34377097 19:3600454-3600454 19:3600456-3600456

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

73
# Symbol AA change Variation ID SNP ID
1 TBXA2R p.Arg60Leu VAR_003515 rs34377097

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
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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