MCID: THR025
MIFTS: 13

Thromboxane Synthase Deficiency malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Thromboxane Synthase Deficiency

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Aliases & Descriptions for Thromboxane Synthase Deficiency:

Name: Thromboxane Synthase Deficiency 51 24 12
Thromboxane Synthetase Deficiency 26 67
 
Bleeding Disorder, Platelet Type 14 24
Bdplt14 24

Characteristics:

HPO:

63
thromboxane synthase deficiency:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 614158

Summaries for Thromboxane Synthase Deficiency

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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:51 614158

Related Diseases for Thromboxane Synthase Deficiency

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

idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c10.9

Symptoms for Thromboxane Synthase Deficiency

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Symptoms by clinical synopsis from OMIM:

614158

Clinical features from OMIM:

614158

Human phenotypes related to Thromboxane Synthase Deficiency:

 63
id Description HPO Frequency HPO Source Accession
1 epistaxis63 HP:0000421
2 bruising susceptibility63 HP:0000978
3 prolonged bleeding time63 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 Deficiency26
2 Bleeding Disorder, Platelet Type 1424 TBXAS1

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet