MCID: THR025

Thromboxane Synthase Deficiency malady

Blood diseases category

Aliases & Classifications for Thromboxane Synthase Deficiency

About this section

Aliases & Descriptions for Thromboxane Synthase Deficiency:

Name: Thromboxane Synthase Deficiency 49 11


Classifications:



External Ids:

OMIM49 614158

Summaries for Thromboxane Synthase Deficiency

About this section
MalaCards based summary: Thromboxane Synthase Deficiency and has symptoms including autosomal dominant inheritance, epistaxis and bruising susceptibility. An important gene associated with Thromboxane Synthase Deficiency is TBXAS1 (Thromboxane A Synthase 1 (Platelet)).

Description from OMIM:49 614158

Related Diseases for Thromboxane Synthase Deficiency

About this section

Symptoms for Thromboxane Synthase Deficiency

About this section

Symptoms by clinical synopsis from OMIM:

614158

Clinical features from OMIM:

614158

HPO human phenotypes related to Thromboxane Synthase Deficiency:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 epistaxis HP:0000421
3 bruising susceptibility HP:0000978
4 prolonged bleeding time HP:0003010

Drugs & Therapeutics for Thromboxane Synthase Deficiency

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thromboxane Synthase Deficiency

Genetic Tests for Thromboxane Synthase Deficiency

About this section

Anatomical Context for Thromboxane Synthase Deficiency

About this section

Animal Models for Thromboxane Synthase Deficiency or affiliated genes

About this section

Publications for Thromboxane Synthase Deficiency

About this section

Variations for Thromboxane Synthase Deficiency

About this section

Expression for genes affiliated with Thromboxane Synthase Deficiency

About this section
Search GEO for disease gene expression data for Thromboxane Synthase Deficiency.

Pathways for genes affiliated with Thromboxane Synthase Deficiency

About this section

GO Terms for genes affiliated with Thromboxane Synthase Deficiency

About this section

Sources for Thromboxane Synthase Deficiency

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet