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 46 9
 
Bleeding Disorder, Platelet-Type, 14 46


Classifications:



External Ids:

OMIM46 614158

Summaries for Thromboxane Synthase Deficiency

About this section
MalaCards based summary: Thromboxane Synthase Deficiency, is also known as bleeding disorder, platelet-type, 14, 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:46 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

Drug clinical trials:

Search ClinicalTrials for Thromboxane Synthase Deficiency

Search 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

Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet