BDPLT14
MCID: BLD156
MIFTS: 32

Bleeding Disorder, Platelet-Type, 14 (BDPLT14)

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 6 39 71
Thromboxane Synthase Deficiency 12 29 13
Platelet-Type Bleeding Disorder 14 12 15
Bdplt14 57 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant


HPO:

31
bleeding disorder, platelet-type, 14:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111047
OMIM® 57 614158
OMIM Phenotypic Series 57 PS231200
MedGen 41 C0398635
UMLS 71 C0398635

Summaries for Bleeding Disorder, Platelet-Type, 14

Disease Ontology : 12 A blood platelet 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 fibrosis of extraocular muscles, congenital, 1 and ghosal hematodiaphyseal dysplasia. An important gene associated with Bleeding Disorder, Platelet-Type, 14 is BDPLT14 (Bleeding Disorder, Platelet-Type, 14), and among its related pathways/superpathways are Celecoxib Pathway, Pharmacodynamics and ATF-2 transcription factor network. Related phenotypes are epistaxis and bruising susceptibility

More information from OMIM: 614158 PS231200

Related Diseases for Bleeding Disorder, Platelet-Type, 14

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Bleeding Disorder, Platelet-Type, 16 Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12 Bleeding Disorder, Platelet-Type, 8
Bleeding Disorder, Platelet-Type, 13 Bleeding Disorder, Platelet-Type, 14
Bleeding Disorder, Platelet-Type, 9 Bleeding Disorder, Platelet-Type, 15
Bleeding Disorder, Platelet-Type, 18 Bleeding Disorder, Platelet-Type, 19
Bleeding Disorder, Platelet-Type, 20 Bleeding Disorder, Platelet-Type, 21
Bleeding Disorder, Platelet-Type, 22

Diseases related to Bleeding Disorder, Platelet-Type, 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 10.0
2 ghosal hematodiaphyseal dysplasia 10.0
3 pancytopenia 10.0
4 pericarditis 9.8 RETN IFNG
5 mucormycosis 9.8 INS IFNG
6 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.8 INS IFNG
7 fascioliasis 9.8 INS IFNG
8 autoimmune disease of endocrine system 9.8 INS IFNG
9 hypothalamic obesity 9.8 RETN INS
10 maturity-onset diabetes of the young, type 1 9.7 RETN INS
11 apnea, obstructive sleep 9.7 RETN INS
12 thyroiditis 9.7 INS IFNG
13 familial partial lipodystrophy 9.7 RETN INS
14 prediabetes syndrome 9.6 RETN INS
15 autoimmune disease of gastrointestinal tract 9.6 INS IFNG
16 proteasome-associated autoinflammatory syndrome 1 9.5 RETN INS IFNG
17 sleep apnea 9.4 RETN INS
18 type 1 diabetes mellitus 9.4 RETN INS IFNG
19 vascular disease 9.4 RETN INS IFNG
20 hypertension, essential 9.0 TBXA2R RETN INS IFNG
21 type 2 diabetes mellitus 9.0 RETN INS IFNG C1QTNF9 C1QTNF3

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 14:



Diseases related to Bleeding Disorder, Platelet-Type, 14

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

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

31
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978
3 prolonged bleeding time 31 HP:0003010
4 ecchymosis 31 HP:0031364
5 decreased serum thromboxane b2 31 HP:0032244

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
ecchymoses

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

Clinical features from OMIM®:

614158 (Updated 05-Mar-2021)

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
2 Thromboxane Synthase Deficiency 29

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 PMID Year
1
Familial bleeding tendency with partial platelet thromboxane synthetase deficiency: reorientation of cyclic endoperoxide metabolism. 57 61
6268139 1981
2
Severe bleeding associated with defective thromboxane synthetase. 57
6101498 1980
3
[Deficiencies of the prostaglandin system: III. A partial thromboxane synthetase defect]. 61
3927594 1985
4
Reorientation of prostaglandin endoperoxide metabolism by a thromboxane synthetase inhibitor: in vitro and clinical observations. 61
6297527 1983
5
Impaired platelet response to thromboxane-A2 and defective calcium mobilization in a patient with a bleeding disorder. 61
7459434 1981
6
Hereditary bleeding disorder due to a primary defect in platelet release reaction. 61
7470394 1981

Variations for Bleeding Disorder, Platelet-Type, 14

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 14:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TBXAS1 NM_030984.5(TBXAS1):c.1364+1863G>T SNV Likely pathogenic 626181 rs149988492 7:139717523-139717523 7:140017723-140017723
2 TBXAS1 NM_001061.6(TBXAS1):c.580_581del (p.Ala194fs) Deletion Likely pathogenic 626225 rs760698812 7:139655297-139655298 7:139955498-139955499

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 11.02 TBXAS1 TBXA2R
2 10.9 INS IFNG
3 10.66 TBXAS1 TBXA2R
4 10.07 TBXAS1 TBXA2R

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 9.1 RETN INS IFNG C1QTNF9 C1QTNF3 C1QTNF12

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

# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 9.85 TBXA2R RETN INS C1QTNF9 C1QTNF12
2 fat cell differentiation GO:0045444 9.43 RETN C1QTNF3
3 positive regulation of glucose import GO:0046326 9.4 INS C1QTNF12
4 positive regulation of vasoconstriction GO:0045907 9.37 TBXAS1 TBXA2R
5 positive regulation of insulin receptor signaling pathway GO:0046628 9.32 INS C1QTNF12
6 positive regulation of glycolytic process GO:0045821 9.26 INS IFNG
7 negative regulation of feeding behavior GO:2000252 9.16 RETN INS
8 positive regulation of cytokine production GO:0001819 9.13 INS IFNG C1QTNF3
9 negative regulation of gluconeogenesis GO:0045721 8.8 INS C1QTNF3 C1QTNF12

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 8.92 RETN INS C1QTNF9 C1QTNF12

Sources for Bleeding Disorder, Platelet-Type, 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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