MCID: THR025
MIFTS: 16

Thromboxane Synthase Deficiency malady

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Thromboxane Synthase Deficiency

Aliases & Descriptions for Thromboxane Synthase Deficiency:

Name: Thromboxane Synthase Deficiency 54 12 24 13
Thromboxane Synthetase Deficiency 29 69
Bdplt14 12 24
Bleeding Disorder, Platelet Type 14 24
Platelet-Type Bleeding Disorder 14 12

Characteristics:

HPO:

32
thromboxane synthase deficiency:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 614158
Disease Ontology 12 DOID:0111047

Summaries for Thromboxane Synthase Deficiency

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 : Thromboxane Synthase Deficiency, also known as thromboxane synthetase deficiency, is related to bernard-soulier syndrome, type c, and has symptoms including epistaxis, bruising susceptibility and prolonged bleeding time. An important gene associated with Thromboxane Synthase Deficiency is TBXAS1 (Thromboxane A Synthase 1).

Description from OMIM: 614158

Related Diseases for Thromboxane Synthase Deficiency

Diseases related to Thromboxane Synthase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome, type c 10.9

Symptoms & Phenotypes for Thromboxane Synthase Deficiency

Symptoms by clinical synopsis from OMIM:

614158

Clinical features from OMIM:

614158

Human phenotypes related to Thromboxane Synthase Deficiency:

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

Drugs & Therapeutics for Thromboxane Synthase Deficiency

Search Clinical Trials , NIH Clinical Center for Thromboxane Synthase Deficiency

Genetic Tests for Thromboxane Synthase Deficiency

Genetic tests related to Thromboxane Synthase Deficiency:

id Genetic test Affiliating Genes
1 Thromboxane Synthetase Deficiency 29
2 Bleeding Disorder, Platelet Type 14 24 TBXAS1

Anatomical Context for Thromboxane Synthase Deficiency

Publications for Thromboxane Synthase Deficiency

Variations for Thromboxane Synthase Deficiency

Expression for Thromboxane Synthase Deficiency

Search GEO for disease gene expression data for Thromboxane Synthase Deficiency.

Pathways for Thromboxane Synthase Deficiency

GO Terms for Thromboxane Synthase Deficiency

Sources for Thromboxane Synthase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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