MCID: THR025

Thromboxane Synthase Deficiency malady

Blood diseases category

Aliases & Classifications for Thromboxane Synthase Deficiency

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Thromboxane Synthase Deficiency, Aliases & Descriptions:

Name: Thromboxane Synthase Deficiency 45 10
 
Bleeding Disorder, Platelet-Type, 14 45


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


External Ids:

OMIM45 614158

Summaries for Thromboxane Synthase Deficiency

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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:45 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 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

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Drug clinical trials:

Search ClinicalTrials for Thromboxane Synthase Deficiency

Search NIH Clinical Center for Thromboxane Synthase Deficiency

Genetic Tests for Thromboxane Synthase Deficiency

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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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Compounds for genes affiliated with Thromboxane Synthase Deficiency

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GO Terms for genes affiliated with Thromboxane Synthase Deficiency

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Products for genes affiliated with Thromboxane Synthase Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thromboxane Synthase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet