MCID: THR025
MIFTS: 10

Thromboxane Synthase Deficiency malady

Category: Blood diseases

Aliases & Classifications for Thromboxane Synthase Deficiency

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Aliases & Descriptions for Thromboxane Synthase Deficiency:

Name: Thromboxane Synthase Deficiency 50 12
 
Thromboxane Synthetase Deficiency 25

Characteristics:

HPO:

62
thromboxane synthase deficiency:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 614158

Summaries for Thromboxane Synthase Deficiency

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MalaCards based summary: Thromboxane Synthase Deficiency, is also known as thromboxane synthetase deficiency, 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:50 614158

Related Diseases for Thromboxane Synthase Deficiency

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Symptoms for Thromboxane Synthase Deficiency

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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 epistaxis HP:0000421
2 bruising susceptibility HP:0000978
3 prolonged bleeding time HP:0003010

Drugs & Therapeutics for Thromboxane Synthase Deficiency

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thromboxane Synthase Deficiency

Genetic Tests for Thromboxane Synthase Deficiency

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Genetic tests related to Thromboxane Synthase Deficiency:

id Genetic test Affiliating Genes
1 Thromboxane Synthetase Deficiency25

Anatomical Context for Thromboxane Synthase Deficiency

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Animal Models for Thromboxane Synthase Deficiency or affiliated genes

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Publications for Thromboxane Synthase Deficiency

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Variations for Thromboxane Synthase Deficiency

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Expression for genes affiliated with Thromboxane Synthase Deficiency

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

Pathways for genes affiliated with Thromboxane Synthase Deficiency

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GO Terms for genes affiliated with Thromboxane Synthase Deficiency

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Sources for Thromboxane Synthase Deficiency

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet