glanzmann thrombasthenia |
Disease ID | 159 |
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Disease | glanzmann thrombasthenia |
Definition | A congenital bleeding disorder with prolonged bleeding time, absence of aggregation of platelets in response to most agents, especially ADP, and impaired or absent clot retraction. Platelet membranes are deficient in or have a defect in the glycoprotein IIb-IIIa complex (PLATELET GLYCOPROTEIN GPIIB-IIIA COMPLEX). |
Synonym | bdplt2 bleeding disorder, platelet-type, 2 glanzmann disease glanzmann thromboasthenia glanzmann's disease glanzmann's syndrome glanzmann's thrombasthenia glanzmann's thrombasthenia (disorder) glanzmann-naegeli disorder glanzmanns thrombasthenia glanzsmann's disease glycoprotein complex iib-iiia, deficiency of glycoprotein iib/iiia defect glycoprotein iib/iiia defect (disorder) gp iib-iiia complex, deficiency of hereditary haemorrhagic thrombasthenia hereditary hemorrhagic thrombasthenia hereditary thromboasthenia hereditary thromboasthenia, nos platelet fibrinogen receptor, deficiency of platelet glycoprotein iib-iiia deficiency thrombasthenia thrombasthenia [disease/finding] thrombasthenia of glanzmann and naegeli thrombasthenia, glanzmann thrombasthenia, hemorrhagic thrombasthenia, hereditary thrombasthenia, nos thrombasthenias thromboasthenia thromboasthenia, nos thrombocytasthenia |
Orphanet | |
OMIM | |
DOID | |
UMLS | C0040015 |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0042974 | von willebrand disease | 2 C0040053 | thrombosis | 2 C0019829 | hodgkin lymphoma | 1 C0018818 | ventricular septal defect | 1 C0018924 | hemarthrosis | 1 C0025286 | meningioma | 1 |
Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:36) 196527 | ANO6 | 1.055 | DISEASES 91056 | AP5B1 | 3.521 | DISEASES 79969 | ATAT1 | 2.576 | DISEASES 961 | CD47 | 2.078 | DISEASES 10521 | DDX17 | 2.656 | DISEASES 83658 | DYNLRB1 | 1.52 | DISEASES 2027 | ENO3 | 1.357 | DISEASES 2160 | F11 | 1.762 | DISEASES 2149 | F2R | 2.787 | DISEASES 2152 | F3 | 3.252 | DISEASES 2155 | F7 | 5.259 | DISEASES 2157 | F8 | 3.275 | DISEASES 2623 | GATA1 | 1.062 | DISEASES 8328 | GFI1B | 1.696 | DISEASES 2811 | GP1BA | 4.147 | DISEASES 2877 | GPX2 | 1.06 | DISEASES 3113 | HLA-DPA1 | 3.43 | DISEASES 60495 | HPSE2 | 1.059 | DISEASES 3384 | ICAM2 | 1.027 | DISEASES 3386 | ICAM4 | 2.251 | DISEASES 3635 | INPP5D | 1.268 | DISEASES 387755 | INSC | 1.457 | DISEASES 23218 | NBEAL2 | 4.847 | DISEASES 5287 | PIK3C2B | 1.871 | DISEASES 5328 | PLAU | 1.227 | DISEASES 5336 | PLCG2 | 3.13 | DISEASES 5747 | PTK2 | 2.468 | DISEASES 5777 | PTPN6 | 1.329 | DISEASES 5900 | RALGDS | 4.703 | DISEASES 5906 | RAP1A | 1.106 | DISEASES 10235 | RASGRP2 | 3.691 | DISEASES 6714 | SRC | 1.077 | DISEASES 6850 | SYK | 2.835 | DISEASES 6915 | TBXA2R | 1.351 | DISEASES 26276 | VPS33B | 1.771 | DISEASES 23038 | WDTC1 | 5.121 | DISEASES |
Locus | Symbol | Locus(Total Locus:2) |
Disease ID | 159 |
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Disease | glanzmann thrombasthenia |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:11) HP:0000421 | Bloody nose | 3 HP:0040185 | Macrothrombocytopenia | 3 HP:0004406 | Recurrent epistaxes | 1 HP:0004420 | Arterial thrombosis | 1 HP:0100310 | Extradural hematoma | 1 HP:0012189 | Hodgkin disease | 1 HP:0001629 | Ventricular septal defects | 1 HP:0005261 | Joint hemorrhage | 1 HP:0002721 | Immunodeficiency | 1 HP:0004419 | Recurrent thrombosis | 1 HP:0002858 | Mengiomia | 1 |
Disease ID | 159 |
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Disease | glanzmann thrombasthenia |
Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0020582 | hyphema |
Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:3) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
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(Waiting for update.) |
All Snps(Total Genotypes:20) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs121918444 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47286364 | G | A |
rs121918445 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47284514 | G | T |
rs121918446 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47286363 | C | T |
rs121918449 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47291027 | G | A |
rs121918451 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47300488 | G | T |
rs121918452 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47284509 | T | G |
rs13306476 | 15634267 | 3690 | ITGB3 | umls:C0040015 | UNIPROT | Double heterozygosity for a novel missense mutation of Ile304 to Asn in addition to the missense mutation His280 to Pro in the integrin beta3 gene as a cause of the absence of platelet alphaIIbbeta3 in Glanzmann's thrombasthenia. | 0.608217928 | 2005 | ITGB3 | 17 | 47287209 | A | C,G |
rs137852906 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44380004 | G | A |
rs137852907 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44384567 | C | T |
rs137852908 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44383630 | C | T |
rs137852909 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44381019 | C | T |
rs137852910 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44383640 | C | T |
rs137852911 | 9473221 | 3674 | ITGA2B | umls:C0040015 | BeFree | Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa. | 0.51664816 | 1998 | ITGA2B | 17 | 44385193 | A | G |
rs137852911 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44385193 | A | G |
rs76066357 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44385686 | G | C |
rs76811038 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44379780 | A | G |
rs79560904 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47286385 | G | A |
rs79775494 | NA | 3690 | ITGB3 | umls:C0040015 | CLINVAR | NA | 0.608217928 | NA | ITGB3 | 17 | 47287128 | A | T |
rs80002943 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44374732 | G | A |
rs80277041 | NA | 3674 | ITGA2B | umls:C0040015 | CLINVAR | NA | 0.51664816 | NA | ITGA2B | 17 | 44379689 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Disease ID | 159 |
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Disease | glanzmann thrombasthenia |
Case | (Waiting for update.) |