Bleeding Disorder, Platelet-Type, 18 (BDPLT18)

Alias:
Platelet-Type Bleeding Disorder 18
Bdplt18
Bleeding Disorder Due to Calcium- and Dag-Regulated Guanine Exchange Factor-1 Deficiency
Bleeding Disorder Due to Caldag-Gefi Deficiency
Bleeding Disorder, Platelet Type 18
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bleeding Disorder, Platelet-Type, 18, also known as platelet-type bleeding disorder 18, is related to leukocyte adhesion deficiency, type i and thrombasthenia. An important gene associated with Bleeding Disorder, Platelet-Type, 18 is RASGRP2 (RAS Guanyl Releasing Protein 2), and among its related pathways/superpathways are Signal Transduction and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include bone marrow and bone, and related phenotypes are epistaxis and bruising susceptibility
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
8
62
5

Medical Symptom

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

Gene & Mutation

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Gene
Function
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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