MCID: BLD156
MIFTS: 30

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 57
Thromboxane Synthetase Deficiency 57 29 40 73
Thromboxane Synthase Deficiency 57 12 13
Platelet-Type Bleeding Disorder 14 12 15
Bdplt14 57 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
bleeding disorder, platelet-type, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614158
Disease Ontology 12 DOID:0111047
MedGen 42 C0398635
UMLS 73 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. Affiliated tissues include bone, and 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 bruising susceptibility 32 HP:0000978
3 prolonged bleeding time 32 HP:0003010
4 ecchymosis 32 HP:0031364

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 29 TBXAS1

Anatomical Context for Bleeding Disorder, Platelet-Type, 14

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 14:

41
Bone

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 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
Content
Loading form....