Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / OrganismsTools
SugarDrawer
GlycanBuilder
Glycan Converters
GlycoMaple
GlycomeAtlas
LM-GlycomeAtlas
GALAXY
MCAW
GlycoSim
GRable
Guidelines
MIRAGE
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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05106 | Integrin beta-3 | |
| P08514 | Integrin alpha-IIb | |
| P17301 | Integrin alpha-2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| O54890 | Integrin beta-3 |
