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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
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P09382 | Galectin-1 | |
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial | |
| P14555 | Phospholipase A2, membrane associated | |
| P16109 | P-selectin | |
| P19320 | Vascular cell adhesion protein 1 | |
| P54802 | Alpha-N-acetylglucosaminidase | |
| Q02083 | N-acylethanolamine-hydrolyzing acid amidase | |
| Q8WWQ2 | Inactive heparanase-2 | |
| Q9Y251 | Heparanase |
