MCID: BLD156
MIFTS: 29

Bleeding Disorder, Platelet-Type, 14

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

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 14

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 14:

Name: Bleeding Disorder, Platelet-Type, 14 58
Thromboxane Synthetase Deficiency 58 30 41 74
Thromboxane Synthase Deficiency 58 12 13
Platelet-Type Bleeding Disorder 14 12 15
Bdplt14 58 12

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bleeding disorder, platelet-type, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111047
OMIM 58 614158
MedGen 43 C0398635
UMLS 74 C0398635

Summaries for Bleeding Disorder, Platelet-Type, 14

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has material basis in mutation in the TBXAS1 gene on chromosome 7q34.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 14, also known as thromboxane synthetase deficiency, is related to pancytopenia. An important gene associated with Bleeding Disorder, Platelet-Type, 14 is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Platelet activation and Celecoxib Pathway, Pharmacodynamics. Related phenotypes are epistaxis and bruising susceptibility

Description from OMIM: 614158

Related Diseases for Bleeding Disorder, Platelet-Type, 14

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 14

Human phenotypes related to Bleeding Disorder, Platelet-Type, 14:

33
# Description HPO Frequency HPO Source Accession
1 epistaxis 33 HP:0000421
2 bruising susceptibility 33 HP:0000978
3 prolonged bleeding time 33 HP:0003010
4 ecchymosis 33 HP:0031364

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
ecchymoses

Hematology:
prolonged bleeding time
normal platelet count
defective platelet aggregation in response to arachidonic acid
bleeding tendency (e.g., epistaxis)
decreased serum thromboxane b2

Clinical features from OMIM:

614158

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 14

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 14

Genetic Tests for Bleeding Disorder, Platelet-Type, 14

Genetic tests related to Bleeding Disorder, Platelet-Type, 14:

# Genetic test Affiliating Genes
1 Thromboxane Synthetase Deficiency 30 TBXAS1

Anatomical Context for Bleeding Disorder, Platelet-Type, 14

Publications for Bleeding Disorder, Platelet-Type, 14

Articles related to Bleeding Disorder, Platelet-Type, 14:

# Title Authors Year
1
Familial bleeding tendency with partial platelet thromboxane synthetase deficiency: reorientation of cyclic endoperoxide metabolism. ( 6268139 )
1981

Variations for Bleeding Disorder, Platelet-Type, 14

Expression for Bleeding Disorder, Platelet-Type, 14

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 14.

Pathways for Bleeding Disorder, Platelet-Type, 14

Pathways related to Bleeding Disorder, Platelet-Type, 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.35 TBXA2R TBXAS1
2 10.92 TBXA2R TBXAS1
3 10.66 TBXA2R TBXAS1
4 10.07 TBXA2R TBXAS1

GO Terms for Bleeding Disorder, Platelet-Type, 14

Cellular components related to Bleeding Disorder, Platelet-Type, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.46 C1QTNF12 C1QTNF3 C1QTNF9 RETN
2 cell GO:0005623 8.96 C1QTNF3 TBXAS1
3 collagen trimer GO:0005581 8.62 C1QTNF3 C1QTNF9

Biological processes related to Bleeding Disorder, Platelet-Type, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to ethanol GO:0045471 9.37 TBXA2R TBXAS1
2 regulation of signaling receptor activity GO:0010469 9.33 C1QTNF12 C1QTNF9 RETN
3 negative regulation of inflammatory response GO:0050728 9.32 C1QTNF12 C1QTNF3
4 fat cell differentiation GO:0045444 9.26 C1QTNF3 RETN
5 positive regulation of vasoconstriction GO:0045907 8.96 TBXA2R TBXAS1
6 negative regulation of gluconeogenesis GO:0045721 8.62 C1QTNF12 C1QTNF3

Molecular functions related to Bleeding Disorder, Platelet-Type, 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 C1QTNF12 C1QTNF9 RETN

Sources for Bleeding Disorder, Platelet-Type, 14

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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