GT2
MCID: GLN012
MIFTS: 21

Glanzmann Thrombasthenia 2 (GT2)

Categories: Blood diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Glanzmann Thrombasthenia 2

MalaCards integrated aliases for Glanzmann Thrombasthenia 2:

Name: Glanzmann Thrombasthenia 2 57 6
Bleeding Disorder, Platelet-Type, 23; Bdplt23 57
Bleeding Disorder, Platelet-Type, 23 57
Bdplt23 57
Gt2 57

Classifications:



External Ids:

OMIM® 57 619267
OMIM Phenotypic Series 57 PS231200 PS273800

Summaries for Glanzmann Thrombasthenia 2

OMIM® : 57 Glanzmann thrombasthenia-2 (GT2) is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. The abnormalities are related to quantitative or qualitative abnormalities of the GPIIb (607759)/IIIa platelet surface fibrinogen receptor complex resulting from mutations in the GPIIIa gene (Rosenberg et al., 1997). For a general phenotypic description and a discussion of genetic heterogeneity of Glanzmann thrombasthenia, see 273800. (619267) (Updated 20-May-2021)

MalaCards based summary : Glanzmann Thrombasthenia 2, also known as bleeding disorder, platelet-type, 23; bdplt23, is related to dwarfism and bleeding disorder, platelet-type, 24. An important gene associated with Glanzmann Thrombasthenia 2 is ITGB3 (Integrin Subunit Beta 3).

Related Diseases for Glanzmann Thrombasthenia 2

Diseases in the Glanzmann Thrombasthenia 1 family:

Glanzmann Thrombasthenia 2

Diseases related to Glanzmann Thrombasthenia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.0
2 bleeding disorder, platelet-type, 24 9.7 ITGB3 EFCAB13-DT
3 thrombasthenia 9.7 ITGB3 EFCAB13-DT
4 bleeding disorder, platelet-type, 16 9.7 ITGB3 EFCAB13-DT
5 autosomal dominant macrothrombocytopenia 9.6 ITGB3 EFCAB13-DT
6 thrombocytopenia 9.6 ITGB3 EFCAB13-DT
7 glanzmann thrombasthenia 1 9.5 ITGB3 EFCAB13-DT

Graphical network of the top 20 diseases related to Glanzmann Thrombasthenia 2:



Diseases related to Glanzmann Thrombasthenia 2

Symptoms & Phenotypes for Glanzmann Thrombasthenia 2

Clinical features from OMIM®:

619267 (Updated 20-May-2021)

Drugs & Therapeutics for Glanzmann Thrombasthenia 2

Search Clinical Trials , NIH Clinical Center for Glanzmann Thrombasthenia 2

Genetic Tests for Glanzmann Thrombasthenia 2

Anatomical Context for Glanzmann Thrombasthenia 2

Publications for Glanzmann Thrombasthenia 2

Articles related to Glanzmann Thrombasthenia 2:

(show all 15)
# Title Authors PMID Year
1
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 57 6
20020534 2010
2
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). 6 57
16463284 2006
3
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia. 6 57
9845537 1998
4
Glanzmann thrombasthenia caused by an 11.2-kb deletion in the glycoprotein IIIa (beta3) is a second mutation in Iraqi Jews that stemmed from a distinct founder. 57 6
9160670 1997
5
A spontaneous mutation of integrin alpha IIb beta 3 (platelet glycoprotein IIb-IIIa) helps define a ligand binding site. 57 6
1371279 1992
6
Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. 6
9351872 1997
7
A Leu117-->Trp mutation within the RGD-peptide cross-linking region of beta3 results in Glanzmann thrombasthenia by preventing alphaIIb beta3 export to the platelet surface. 6
9376589 1997
8
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. 57
8282784 1994
9
Glanzmann's thrombasthenia caused by homozygosity for a splice defect that leads to deletion of the first coding exon of the glycoprotein IIIa mRNA. 6
8471765 1993
10
Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia. 6
1438206 1992
11
A new variant of Glanzmann's thrombasthenia (Strasbourg I). Platelets with functionally defective glycoprotein IIb-IIIa complexes and a glycoprotein IIIa 214Arg----214Trp mutation. 6
1602006 1992
12
The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. 57
2014236 1991
13
A beta 3 integrin mutation abolishes ligand binding and alters divalent cation-dependent conformation. 6
2392682 1990
14
Divalent cation regulation of the surface orientation of platelet membrane glycoprotein IIb. Correlation with fibrinogen binding function and definition of a novel variant of Glanzmann's thrombasthenia. 6
2428841 1986
15
Screening bleeding disorders in adolescents and young women with menorrhagia. 61
24385781 2013

Variations for Glanzmann Thrombasthenia 2

ClinVar genetic disease variations for Glanzmann Thrombasthenia 2:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGB3 NM_000212.2(ITGB3):c.719G>A (p.Arg240Gln) SNV Pathogenic 13553 rs121918444 GRCh37: 17:45363730-45363730
GRCh38: 17:47286364-47286364
2 ITGB3 NM_000212.2(ITGB3):c.718C>T (p.Arg240Trp) SNV Pathogenic 13555 rs121918446 GRCh37: 17:45363729-45363729
GRCh38: 17:47286363-47286363
3 EFCAB13-DT , ITGB3 NM_000212.2(ITGB3):c.2332T>C (p.Ser778Pro) SNV Pathogenic 13556 rs121918447 GRCh37: 17:45387535-45387535
GRCh38: 17:47310169-47310169
4 ITGB3 ITGB3, IVSiDS, G-T, EXiDEL Deletion Pathogenic 13560 GRCh37:
GRCh38:
5 ITGB3 NM_000212.2(ITGB3):c.1199G>A (p.Cys400Tyr) SNV Pathogenic 13562 rs121918449 GRCh37: 17:45368393-45368393
GRCh38: 17:47291027-47291027
6 ITGB3 ITGB3, 11.2-KB DEL Deletion Pathogenic 13563 GRCh37:
GRCh38:
7 ITGB3 NM_000212.2(ITGB3):c.1924G>T (p.Glu642Ter) SNV Pathogenic 13565 rs121918451 GRCh37: 17:45377854-45377854
GRCh38: 17:47300488-47300488
8 ITGB3 ITGB3, 11-BP DEL, EX12 Deletion Pathogenic 13566 GRCh37:
GRCh38:
9 ITGB3 NM_000212.2(ITGB3):c.428T>G (p.Leu143Trp) SNV Pathogenic 13567 rs121918452 GRCh37: 17:45361875-45361875
GRCh38: 17:47284509-47284509
10 ITGB3 NM_000212.2(ITGB3):c.836A>T (p.Lys279Met) SNV Pathogenic 13568 rs79775494 GRCh37: 17:45364494-45364494
GRCh38: 17:47287128-47287128
11 ITGB3 NM_000212.2(ITGB3):c.740G>A (p.Gly247Asp) SNV Pathogenic 13569 rs79560904 GRCh37: 17:45363751-45363751
GRCh38: 17:47286385-47286385
12 ITGB3 NM_000212.2(ITGB3):c.433G>T (p.Asp145Tyr) SNV Pathogenic 13554 rs121918445 GRCh37: 17:45361880-45361880
GRCh38: 17:47284514-47284514
13 EFCAB13-DT , ITGB3 NM_000212.2(ITGB3):c.2248C>T (p.Arg750Ter) SNV Pathogenic 13564 rs121918450 GRCh37: 17:45384950-45384950
GRCh38: 17:47307584-47307584

Expression for Glanzmann Thrombasthenia 2

Search GEO for disease gene expression data for Glanzmann Thrombasthenia 2.

Pathways for Glanzmann Thrombasthenia 2

GO Terms for Glanzmann Thrombasthenia 2

Sources for Glanzmann Thrombasthenia 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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