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
Glanzmann's thrombasthenia
Summary
- Synonym
-
- BDPLT2
- Glanzmann thrombasthenia
- Glycoprotein IIb/IIIa defect
- Thrombocytasthenia
- deficiency of GP IIb-IIIa complex
- deficiency of glycoprotein complex IIb-IIIa
- deficiency of platelet fibrinogen receptor
- platelet glycoprotein IIb-IIIa deficiency
- platelet-type bleeding disorder 2
- thrombasthenia of Glanzmann and Naegeli
- Definition
- A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
- Super Class
- blood platelet disease
External Links
- Disease Ontology
- DOID:2219
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
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 |
