platelet-type bleeding disorder 18

Summary
Synonym
  • BDPLT18
  • bleeding disorder due to CalDAG-GEFI deficiency
  • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
Definition
A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
Super Class
autosomal recessive disease blood platelet disease
External Links
Disease Ontology
DOID:0111051
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying entries 1 - 10 of 13 in total
Gene ID Gene Symbol Description Source
1738 DLD dihydrolipoamide dehydrogenase
3956 LGALS1 galectin 1
3964 LGALS8 galectin 8
4669 NAGLU N-acetyl-alpha-glucosaminidase
5319 PLA2G1B phospholipase A2 group IB
5320 PLA2G2A phospholipase A2 group IIA
6403 SELP selectin P
7412 VCAM1 vascular cell adhesion molecule 1
8398 PLA2G6 phospholipase A2 group VI
10855 HPSE heparanase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024