MCID: THR025
MIFTS: 16

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 52 11 24 12
Thromboxane Synthetase Deficiency 27 68
Bdplt14 11 24
 
Bleeding Disorder, Platelet Type 14 24
Platelet-Type Bleeding Disorder 14 11

Characteristics:

HPO:

64
thromboxane synthase deficiency:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 614158
Disease Ontology11 DOID:0111047

Summaries for Thromboxane Synthase Deficiency

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Disease Ontology:11 An inherited blood coagulation disease characterized by autosomal dominant inheritance of defective platelet aggegation, epistaxis, ecchymoses, and prolonged bleeding times that has material basis in mutation in the TBXAS1 gene on chromosome 7q34.

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:52 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 & Phenotypes 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:

 64
id Description HPO Frequency HPO Source Accession
1 epistaxis64 HP:0000421
2 bruising susceptibility64 HP:0000978
3 prolonged bleeding time64 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 Deficiency27
2 Bleeding Disorder, Platelet Type 1424 TBXAS1

Anatomical Context for Thromboxane Synthase Deficiency

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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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet