Bleeding Disorder, Platelet-Type, 20 (BDPLT20)

Alias:
Platelet-Type Bleeding Disorder 20
Bdplt20
Autosomal Dominant Thrombocytopenia with Platelet Secretion Defect
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bleeding Disorder, Platelet-Type, 20, also known as platelet-type bleeding disorder 20, is related to bleeding disorder, platelet-type, 18 and carotid artery thrombosis. An important gene associated with Bleeding Disorder, Platelet-Type, 20 is SLFN14 (Schlafen Family Member 14), and among its related pathways/superpathways are 17q12 copy number variation syndrome and Platelet Aggregation Inhibitor Pathway, Pharmacodynamics. Affiliated tissues include bone marrow and bone, and related phenotypes are thrombocytopenia and epistaxis
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
<1/1000000
8
60
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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