loading...| Preferred Name |
GLANZMANN THROMBASTHENIA 1 |
|
| Synonyms |
GT |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/273800 |
|
| altLabel |
GT GLANZMANN THROMBASTHENIA GT1 BDPLT2 GLYCOPROTEIN COMPLEX IIb-IIIa DEFICIENCY BLEEDING DISORDER, PLATELET-TYPE, 2 PLATELET GLYCOPROTEIN IIb-IIIa DEFICIENCY GP IIb-IIIa COMPLEX DEFICIENCY THROMBASTHENIA OF GLANZMANN AND NAEGELI PLATELET FIBRINOGEN RECEPTOR DEFICIENCY |
|
| cui |
C0040015 |
|
| Gene Locus |
17q21.32 |
|
| Gene Symbol |
ITGA2B GP2B BDPLT2 BDPLT16 CD41B GT1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU075706 http://purl.bioontology.org/ontology/OMIM/MTHU020410 http://purl.bioontology.org/ontology/OMIM/MTHU009110 http://purl.bioontology.org/ontology/OMIM/MTHU000448 http://purl.bioontology.org/ontology/OMIM/MTHU073517 http://purl.bioontology.org/ontology/OMIM/MTHU006821 http://purl.bioontology.org/ontology/OMIM/MTHU037166 http://purl.bioontology.org/ontology/OMIM/MTHU000449 http://purl.bioontology.org/ontology/OMIM/MTHU006474 http://purl.bioontology.org/ontology/OMIM/MTHU006824 http://purl.bioontology.org/ontology/OMIM/MTHU007302 http://purl.bioontology.org/ontology/OMIM/MTHU036919 http://purl.bioontology.org/ontology/OMIM/MTHU009112 http://purl.bioontology.org/ontology/OMIM/MTHU002611 http://purl.bioontology.org/ontology/OMIM/MTHU075707 http://purl.bioontology.org/ontology/OMIM/MTHU075708 http://purl.bioontology.org/ontology/OMIM/MTHU008418 http://purl.bioontology.org/ontology/OMIM/MTHU075709 http://purl.bioontology.org/ontology/OMIM/MTHU036916 http://purl.bioontology.org/ontology/OMIM/MTHU037097 http://purl.bioontology.org/ontology/OMIM/MTHU009114 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
273800 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
GLANZMANN THROMBASTHENIA 1 |
|
| Scope Statement |
Glanzmann thrombasthenia 1 and Glanzmann thrombasthenia 2 (619267) are clinically indistinguishable and have 3 clinical subtypes [MISCELLANEOUS] Type III has normal levels of integrin, but the protein is nonfunctional [MISCELLANEOUS] Type I has absent glycoprotein IIb/IIIa expression (<5% normal) [MISCELLANEOUS] Platelet alloimmunization may occur following platelet transfusion [MISCELLANEOUS] Increased frequency in French Romani, South Indian Hindus, Iraqi Jews, and Jordanian nomadic tribes [MISCELLANEOUS] Caused by mutation in the integrin, alpha-2b gene (ITGA2B, 607759.0002) [MOLECULAR BASIS] Estimated incidence of 1 in 1,000,000 (includes GT1 and GT2) [MISCELLANEOUS] Type II has reduced glycoprotein IIb/IIIa expression (5-25%) [MISCELLANEOUS] |
|
| tui |
T047 |