BDPLT14
MCID: BLD156
MIFTS: 35

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 56
Thromboxane Synthetase Deficiency 56 29 6 39 71
Thromboxane Synthase Deficiency 56 12 29 13
Platelet-Type Bleeding Disorder 14 12 15
Bdplt14 56 12

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

Disease Ontology 12 DOID:0111047
OMIM 56 614158
OMIM Phenotypic Series 56 PS231200
MedGen 41 C0398635
UMLS 71 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 fibrosis of extraocular muscles, congenital, 1 and ghosal hematodiaphyseal dysplasia. An important gene associated with Bleeding Disorder, Platelet-Type, 14 is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Celecoxib Pathway, Pharmacodynamics and ATF-2 transcription factor network. Affiliated tissues include t cells, bone and liver, and 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 29)
# Related Disease Score Top Affiliating Genes
1 fibrosis of extraocular muscles, congenital, 1 9.9
2 ghosal hematodiaphyseal dysplasia 9.9
3 pancytopenia 9.9
4 pericarditis 9.8 RETN IFNG
5 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.7 INS IFNG
6 mucormycosis 9.7 INS IFNG
7 fascioliasis 9.7 INS IFNG
8 autoimmune disease of endocrine system 9.7 INS IFNG
9 hypothalamic obesity 9.7 RETN INS
10 autoimmune disease of gastrointestinal tract 9.7 INS IFNG
11 acquired generalized lipodystrophy 9.7 RETN INS
12 fatty liver disease, nonalcoholic 1 9.7 RETN INS
13 abdominal obesity-metabolic syndrome quantitative trait locus 2 9.7 RETN INS
14 hepatitis a 9.7 INS IFNG
15 maturity-onset diabetes of the young, type 1 9.6 RETN INS
16 ileus 9.6 INS IFNG
17 apnea, obstructive sleep 9.6 RETN INS
18 prediabetes syndrome 9.6 RETN INS
19 endocrine pancreas disease 9.6 RETN INS
20 familial partial lipodystrophy 9.6 RETN INS
21 abdominal obesity-metabolic syndrome 1 9.5 RETN INS
22 chronic fatigue syndrome 9.5 INS IFNG
23 leptin deficiency or dysfunction 9.4 RETN INS
24 sleep apnea 9.3 RETN INS
25 proteasome-associated autoinflammatory syndrome 1 9.3 RETN INS IFNG
26 uremia 9.2 RETN INS
27 diabetes mellitus, insulin-dependent 9.1 RETN INS IFNG
28 vascular disease 9.1 RETN INS IFNG
29 hypertension, essential 8.7 TBXA2R RETN INS IFNG

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:

56
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

MGI Mouse Phenotypes related to Bleeding Disorder, Platelet-Type, 14:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 immune system MP:0005387 9.1 C1QTNF3 IFNG INS RETN TBXA2R TBXAS1

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
2 Thromboxane Synthase Deficiency 29

Anatomical Context for Bleeding Disorder, Platelet-Type, 14

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

40
T Cells, Bone, Liver, Pancreas

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. 61 56
6268139 1981
2
Severe bleeding associated with defective thromboxane synthetase. 56
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_001130966.4(TBXAS1):c.1417G>T (p.Gly473Trp)SNV Likely pathogenic 626181 rs149988492 7:139717523-139717523 7:140017723-140017723
2 TBXAS1 NM_030984.5(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 9.83 TBXA2R RETN INS C1QTNF9 C1QTNF12
2 fat cell differentiation GO:0045444 9.46 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 cytokine secretion GO:0050715 9.32 INS C1QTNF3
6 positive regulation of insulin receptor signaling pathway GO:0046628 9.26 INS C1QTNF12
7 positive regulation of glycolytic process GO:0045821 9.16 INS IFNG
8 negative regulation of feeding behavior GO:2000252 8.96 RETN INS
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
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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