Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
| 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 |
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 |
