MCID: GLN010
MIFTS: 64

Glanzmann Thrombasthenia malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Glanzmann Thrombasthenia

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Aliases & Descriptions for Glanzmann Thrombasthenia:

Name: Glanzmann Thrombasthenia 50 11 46 24 52 68 12 48
Glanzmann's Thrombasthenia 11 13 25
Deficiency of Platelet Fibrinogen Receptor 24 68
Thrombasthenia of Glanzmann and Naegeli 46 68
Glycoprotein Iib/iiia Defect 11 24
Thrombasthenia 37 66
Gt 46 68
Platelet Fibrinogen Receptor, Deficiency of 46
Deficiency of Glycoprotein Complex Iib-Iiia 24
Platelet Glycoprotein Iib-Iiia Deficiency 68
Platelet Fibrinogen Receptor Deficiency 24
Platelet Glycoprotein 2b 3a Deficiency 46
 
Hereditary Hemorrhagic Thrombasthenia 24
Bleeding Disorder Platelet-Type 2 68
Glanzmann Thrombasthenia, Type a 66
Glanzmann Thrombasthenia Type a 46
Deficiency of Gp 2b 3a Complex 46
Diacyclothrombopathia 2b 3a 46
Glanzmann-Naegeli Disorder 24
Hereditary Thrombasthenia 24
Thrombocytasthenia 11
Glanzmann Disease 24
Bdplt2 68

Characteristics:

Orphanet epidemiological data:

52
glanzmann thrombasthenia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

62
glanzmann thrombasthenia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 273800
Disease Ontology11 DOID:2219
ICD1028 D69.1
MeSH37 D013915
NCIt43 C61249
Orphanet52 ORPHA849
ICD10 via Orphanet29 D69.1
MedGen35 C0040015

Summaries for Glanzmann Thrombasthenia

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NIH Rare Diseases:46 Glanzmann thrombasthenia (gt) is a rare inherited blood clotting disorder that is present at birth. it is characterized by the impaired function of specialized blood cells, called platelets, that are essential for proper blood clotting. signs and symptoms vary greatly from person to person. symptoms usually include abnormal bleeding, which can be severe. other symptoms may include easy bruising, nose bleeds, bleeding from the gums, and/or heavy menstrual bleeding. rarely, internal bleeding and blood in the urine (hematuria) can occur. prolonged untreated or unsuccessfully treated bleeding may be life threatening. this condition is inherited in an autosomal recessive fashion and is caused by mutations in either the itga2b or itgb3 genes. last updated: 9/13/2011

MalaCards based summary: Glanzmann Thrombasthenia, also known as glanzmann's thrombasthenia, is related to microcytic anemia and type 2n von willebrand disease, and has symptoms including menorrhagia, gingival bleeding and epistaxis. An important gene associated with Glanzmann Thrombasthenia is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways are Signal transduction by L1 and L1CAM interactions. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotypes are liver/biliary system and integument.

Genetics Home Reference:24 Glanzmann thrombasthenia is a bleeding disorder that is characterized by prolonged or spontaneous bleeding starting from birth. People with Glanzmann thrombasthenia tend to bruise easily, have frequent nosebleeds (epistaxis), and may bleed from the gums. They may also develop red or purple spots on the skin caused by bleeding underneath the skin (petechiae) or swelling caused by bleeding within tissues (hematoma). Glanzmann thrombasthenia can also cause prolonged bleeding following injury, trauma, or surgery (including dental work). Women with this condition can have prolonged and sometimes abnormally heavy menstrual bleeding. Affected women also have an increased risk of excessive blood loss during pregnancy and childbirth.

OMIM:50 Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation... (273800) more...

UniProtKB/Swiss-Prot:68 Glanzmann thrombasthenia: A common inherited disease of platelet aggregation. It is characterized by mucocutaneous bleeding of mild-to-moderate severity. GT has been classified clinically into types I and II. In type I, platelets show absence of the glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express the GPIIb-IIIa complex at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability.

Related Diseases for Glanzmann Thrombasthenia

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

(show top 50)    (show all 156)
idRelated DiseaseScoreTop Affiliating Genes
1microcytic anemia30.9F2, F3, VWF
2type 2n von willebrand disease29.6F8, GP1BA, SELP, VWF
3bernard-soulier syndrome, type c28.2F2, F2R, GP1BA, GP9, ITGA2, ITGA2B
4low gamma-gt familial intrahepatic cholestasis12.1
5gilles de la tourette syndrome11.6
6prothrombin-related thrombophilia11.2
7bleeding disorder, platelet-type, 16, autosomal dominant11.2
8thrombasthenia of glanzmann and naegeli, itga2b-related11.2
9thrombasthenia of glanzmann and naegeli, itgb3-related11.2
10thrombasthenia11.2
11bleeding disorder, platelet-type, 1711.2
12cholestasis, progressive familial intrahepatic 110.9
13cholestasis, benign recurrent intrahepatic10.9
14lower urinary tract calculus10.8F2, ITGA2
15subcortical arteriosclerotic encephalopathy10.7F2, F5
16familial glomangioma10.7F2, F3
17ariboflavinosis10.7F2, F3
18unicentric castleman disease10.7F2, F5
19myiasis10.7F2, F3
20cavernous hemangioma of face10.7F2, F3
21ovarian gonadoblastoma10.7F2, F3
22thyroid hyalinizing trabecular adenoma10.7F2, F5
23cerebral angioma10.7F2, F3
24brill-zinsser disease10.7F2, F3
25collagenous colitis10.7F2, F5
26fasciitis10.7F2, ITGA2
27bartholin's gland adenoma10.7F2, F5
28epididymo-orchitis10.7F2, F3
29thrombophilia due to thrombin defect10.6F2, F5
30hepatic fibrosis renal cysts mental retardation10.6F3, F5
31fallopian tube serous papilloma10.6ITGA2B, ITGB3
32chorea gravidarum10.6F2, F3
33central nervous system germinoma10.6F2, F3
34acute zonal occult outer retinopathy10.6F2, F5, ITGB3
35dmd-related dilated cardiomyopathy10.6F2, F3
36lateral cystocele10.6F2, F3
37cervical dermoid cyst10.5GP1BA, ITGA2B, ITGB3
38peroneal neuropathy10.5F2, F3
39classic congenital lipoid adrenal hyperplasia due to star deficency10.5F2, F3, F5
40central epithelioid sarcoma10.5F2, VWF
41interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.5FABP6, ITGA2B, ITGB3
42angular blepharoconjunctivitis10.5F2, F3, F5
43lingual-facial-buccal dyskinesia10.5F2, F3, F5
44c1 inhibitor deficiency10.5F2, GP1BA, ITGB3
45lip carcinoma in situ10.5F2, F3, F5
46homocystinuria due to defect in methylation cbl g10.5F2, F5
47trismus-pseudocamptodactyly syndrome10.4GP1BA, VWF
48may-hegglin anomaly10.4F2, F5
49catatrichy10.4F3, F5
50selective iga deficiency disease10.4F2, F5, SELP

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



Diseases related to glanzmann thrombasthenia

Symptoms for Glanzmann Thrombasthenia

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Symptoms by clinical synopsis from OMIM:

273800

Clinical features from OMIM:

273800

HPO human phenotypes related to Glanzmann Thrombasthenia:

(show all 10)
id Description Frequency HPO Source Accession
1 menorrhagia HP:0000132
2 gingival bleeding HP:0000225
3 epistaxis HP:0000421
4 bruising susceptibility HP:0000978
5 purpura HP:0000979
6 decreased platelet glycoprotein iib-iiia HP:0001975
7 intracranial hemorrhage HP:0002170
8 gastrointestinal hemorrhage HP:0002239
9 prolonged bleeding time HP:0003010
10 impaired platelet aggregation HP:0003540

Drugs & Therapeutics for Glanzmann Thrombasthenia

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Drugs for Glanzmann Thrombasthenia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mycophenolic acidPhase 191924280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
2
Mycophenolate mofetilPhase 1919128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
3
AbataceptPhase 1188332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
4
Alefacept40222535-22-0
Synonyms:
 
ASP0485

Interventional clinical trials:

idNameStatusNCT IDPhase
1Bioequivalence of NovoSeven® and a NovoSeven® Formulation Stable at Room Temperature in Healthy Male SubjectsCompletedNCT01561417Phase 1
2BMT Abatacept for Non-Malignant DiseasesRecruitingNCT01917708Phase 1
3Observational Registry of the Treatment of Glanzmann's ThrombastheniaCompletedNCT01476423
4Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in GermanyCompletedNCT00697320
5The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
6Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of PlateletsRecruitingNCT01957345
7Evaluation of Menses in Congenital Bleeding DisordersRecruitingNCT01261936
8A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in JapanEnrolling by invitationNCT01876745
9Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationSuspendedNCT01319851

Search NIH Clinical Center for Glanzmann Thrombasthenia


Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

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Genetic tests related to Glanzmann Thrombasthenia:

id Genetic test Affiliating Genes
1 Glanzmann's Thrombasthenia25

Anatomical Context for Glanzmann Thrombasthenia

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MalaCards organs/tissues related to Glanzmann Thrombasthenia:

34
Skin, Bone marrow, Bone, Myeloid, Whole blood, Testes

Animal Models for Glanzmann Thrombasthenia or affiliated genes

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MGI Mouse Phenotypes related to Glanzmann Thrombasthenia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.4F2R, F5, F9, FABP6, ITGB3, SELP
2MP:00107718.0EGF, F2, F3, F5, ITGA2, ITGB3
3MP:00053807.9F2, F2R, F3, F5, F9, ITGA2B
4MP:00053856.8F2, F2R, F3, F5, F9, ITGA2B
5MP:00053876.2CD9, EGF, F2, F2R, F3, F8
6MP:00053975.8CD9, F2, F2R, F3, F8, F9
7MP:00053765.7F2, F2R, F3, F5, F8, F9

Publications for Glanzmann Thrombasthenia

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Articles related to Glanzmann Thrombasthenia:

(show top 50)    (show all 193)
idTitleAuthorsYear
1
Efficacy of tranexamic acid for the prevention of bleeding in patients with von Willebrand disease and Glanzmann thrombasthenia: a controlled, before and after trial. (27478149)
2016
2
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. (26466915)
2015
3
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
4
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
5
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
6
Pattern of bleeding and response to therapy in Glanzmann thrombasthenia. (22970800)
2012
7
A mutation in the I^3 cytoplasmic tail causes variant Glanzmann thrombasthenia by abrogating transition of I+IIb I^3 to an active state. (22136613)
2012
8
Intensive menstrual bleeding successfully treated with recombinant factor VIIa in Glanzmann thrombasthenia. (20460355)
2011
9
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. (21917754)
2011
10
Molecular analysis of a patient with type I Glanzmann thrombasthenia and clinical impact of the presence of anti-I+IIbI^3 alloantibodies. (21136216)
2011
11
Hemosuccus pancreaticus in Glanzmann thrombasthenia: implication of scintigraphy in gastrointestinal bleeding (GIB) of unknown origin. (21637072)
2011
12
Characterization of the cDNA and genomic DNA sequence encoding for the platelet integrin alpha IIB and beta III in a horse with Glanzmann thrombasthenia. (22210999)
2011
13
Glanzmann thrombasthenia detected because of knee hemarthrosis: a case report. (20736850)
2010
14
Variant type Glanzmann thrombasthenia caused by homozygous p.724R>X mutation in beta3 integrin. (20106508)
2010
15
Identification of compound heterozygous mutations in the ITGA2B gene in a Chinese patient with Glanzmann thrombasthenia. (20819594)
2010
16
Glanzmann thrombasthenia: the need for epidemiological studies. (19719826)
2009
17
Glanzmann thrombasthenia: a rare hematological disorder with oral manifestations: a case report. (18633476)
2008
18
Glanzmann thrombasthenia in a neonate. (17277431)
2007
19
Excessive gingival bleeding in two patients with Glanzmann thrombasthenia. (17539731)
2007
20
Glanzmann thrombasthenia in an Oldenbourg filly. (17523098)
2007
21
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. (16879215)
2006
22
Monitoring survival and function of transfused platelets in Glanzmann thrombasthenia by flow cytometry and thrombelastography. (16907879)
2006
23
Gene symbol: ITGA2B. Disease: Glanzmann thrombasthenia. (17128469)
2006
24
Characterization of the cDNA Encoding alphaIIb and beta3 in normal horses and two horses with Glanzmann thrombasthenia. (16407493)
2006
25
Molecular diversity of Glanzmann thrombasthenia in southern India: new insights into mRNA splicing and structure-function correlations of alphaIIbbeta3 integrin (ITGA2B, ITGB3). (16463284)
2006
26
A novel homozygous mutation (1619delC) in GPIIb gene associated with Glanzmann thrombasthenia, the decay of GPIIb-mRNA and the synthesis of a truncated GPIIb unable to form complex with GPIIIa. (15886807)
2005
27
Glanzmann thrombasthenia with acute myeloid leukemia successfully treated by bone marrow transplantation. (15717695)
2005
28
Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients. (15748237)
2005
29
Therapeutic expression of the platelet-specific integrin, alphaIIbbeta3, in a murine model for Glanzmann thrombasthenia. (15972454)
2005
30
Glanzmann thrombasthenia Frankfurt I is associated with a point mutation Thr176Ile in the N-terminal region of alpha IIb subunit integrin. (15543332)
2004
31
Analysis of platelet membrane glycoprotein polymorphisms in Glanzmann thrombasthenia showed the French gypsy mutation in the alphaIIb gene to be strongly linked to the HPA-1b polymorphism in beta3. (12871468)
2003
32
Upregulation of osteoclast alpha2beta1 integrin compensates for lack of alphavbeta3 vitronectin receptor in Iraqi-Jewish-type Glanzmann thrombasthenia. (12956766)
2003
33
Glanzmann thrombasthenia: a model disease which paved the way to powerful therapeutic agents. (13679645)
2002
34
A point mutation in the cysteine-rich domain of glycoprotein (GP) IIIa results in the expression of a GPIIb-IIIa (alphaIIbbeta3) integrin receptor locked in a high-affinity state and a Glanzmann thrombasthenia-like phenotype. (11588040)
2001
35
Use of recombinant factor VIIa (NovoSeven) in patients with Glanzmann thrombasthenia. (11735106)
2001
36
Identification of a region in glycoprotein IIIa involved in subunit association with glycoprotein IIb: further lessons from Iraqi-Jewish Glanzmann thrombasthenia. (11493452)
2001
37
Are patients with Glanzmann thrombasthenia and the Bernard-Soulier syndrome protected against atherosclerosis? (11554587)
2001
38
Glanzmann thrombasthenia: integrin alpha IIb beta 3 deficiency. (11197210)
2000
39
Severe menorrhagia due to Glanzmann thrombasthenia treated with hydrothermal ablation. (10806276)
2000
40
Mutations in the alphaIIb and beta3 genes that cause Glanzmann thrombasthenia can be distinguished by a simple procedure using transformed B-lymphocytes. (9493569)
1998
41
Illegitimate transcription: its use for studying genetic abnormalities in lymphoblastoid cells from patients with Glanzmann thrombasthenia. (9450787)
1998
42
A Ser162-->Leu mutation within glycoprotein (GP) IIIa (integrin beta3) results in an unstable alphaIIbbeta3 complex that retains partial function in a novel form of type II Glanzmann thrombasthenia. (9684783)
1998
43
Truncation of the cytoplasmic domain of beta3 in a variant form of Glanzmann thrombasthenia abrogates signaling through the integrin alpha(IIb)beta3 complex. (9351872)
1997
44
Hepatic haematoma related to Glanzmann thrombasthenia in a newborn infant. (8616139)
1996
45
Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3. (8704171)
1996
46
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. (8282784)
1994
47
Delivery of infants with Glanzmann thrombasthenia and subsequent blood transfusion requirements: a follow-up of 39 patients. (1566741)
1992
48
Prevention program of type I Glanzmann thrombasthenia in Israel: prenatal diagnosis. (3366002)
1988
49
Immunologic and biochemical characterization of homozygous and heterozygous Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations of Israel: comparison of techniques for carrier detection. (2938617)
1986
50
Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets. (6310559)
1982

Variations for Glanzmann Thrombasthenia

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UniProtKB/Swiss-Prot genetic disease variations for Glanzmann Thrombasthenia:

68 (show all 61)
id Symbol AA change Variation ID SNP ID
1ITGA2Bp.Gly273AspVAR_003979rs137852907
2ITGA2Bp.Arg358HisVAR_003980rs137852908
3ITGA2Bp.Gly449AspVAR_003981
4ITGA2Bp.Gln778ProVAR_003982rs74475415
5ITGA2Bp.Pro176AlaVAR_009885
6ITGA2Bp.Pro176LeuVAR_009886
7ITGA2Bp.Phe320SerVAR_009887
8ITGA2Bp.Glu355LysVAR_009888rs137852910
9ITGA2Bp.Leu86ProVAR_030445
10ITGA2Bp.Ala139ValVAR_030446
11ITGA2Bp.Cys161TrpVAR_030447
12ITGA2Bp.Tyr174HisVAR_030448
13ITGA2Bp.Phe202CysVAR_030449
14ITGA2Bp.Thr207IleVAR_030450
15ITGA2Bp.Leu214ProVAR_030451rs137852911
16ITGA2Bp.Phe222LeuVAR_030452
17ITGA2Bp.Gly267GluVAR_030453
18ITGA2Bp.Val329PheVAR_030454
19ITGA2Bp.Gly380AspVAR_030455rs766006685
20ITGA2Bp.Ile405ThrVAR_030456rs75622274
21ITGA2Bp.Gly412ArgVAR_030457rs780786843
22ITGA2Bp.Ala581AspVAR_030459
23ITGA2Bp.Ile596ThrVAR_030460rs76811038
24ITGA2Bp.Cys705ArgVAR_030461rs77961246
25ITGA2Bp.Leu752ValVAR_030462rs761174160
26ITGA2Bp.Arg755ProVAR_030463rs763762304
27ITGA2Bp.Leu847ProVAR_030464
28ITGA2Bp.Pro943LeuVAR_030465
29ITGA2Bp.Val982MetVAR_030466rs78657866
30ITGA2Bp.Arg1026GlnVAR_030468
31ITGA2Bp.Val934PheVAR_069917
32ITGA2Bp.Ser957LeuVAR_069918rs80002943
33ITGB3p.Asp145TyrVAR_003998rs121918445
34ITGB3p.Arg240GlnVAR_003999rs121918444
35ITGB3p.Arg240TrpVAR_004000rs121918446
36ITGB3p.His306ProVAR_004001rs13306476
37ITGB3p.Cys400TyrVAR_004002rs121918449
38ITGB3p.Cys586PheVAR_004003
39ITGB3p.Gly598SerVAR_004004
40ITGB3p.Ser778ProVAR_004005rs121918447
41ITGB3p.Leu143TrpVAR_010649rs121918452
42ITGB3p.Ser188LeuVAR_010651rs143146734
43ITGB3p.Cys568ArgVAR_010671
44ITGB3p.Gly605SerVAR_010672rs144884023
45ITGB3p.Arg119TrpVAR_030473rs781062792
46ITGB3p.Tyr141CysVAR_030474
47ITGB3p.Asp145AsnVAR_030475
48ITGB3p.Met150ValVAR_030476rs767548512
49ITGB3p.Leu222ProVAR_030478rs79208797
50ITGB3p.Arg242GlnVAR_030479rs377162158
51ITGB3p.Asp243ValVAR_030480
52ITGB3p.Leu288ProVAR_030481
53ITGB3p.Met321LeuVAR_030482
54ITGB3p.Ile330AsnVAR_030483
55ITGB3p.Cys532TyrVAR_030484
56ITGB3p.Cys586ArgVAR_030485
57ITGB3p.Cys601ArgVAR_030486rs747534508
58ITGB3p.Cys64TyrVAR_069920
59ITGB3p.Met144ArgVAR_069921
60ITGB3p.Gly247AspVAR_069922rs79560904
61ITGB3p.Lys279MetVAR_069923rs79775494

Clinvar genetic disease variations for Glanzmann Thrombasthenia:

5 (show all 28)
id Gene Variation Type Significance SNP ID Assembly Location
1ITGB3NM_000212.2(ITGB3): c.719G> A (p.Arg240Gln)single nucleotide variantPathogenicrs121918444GRCh37Chr 17, 45363730: 45363730
2ITGB3NM_000212.2(ITGB3): c.433G> T (p.Asp145Tyr)single nucleotide variantPathogenicrs121918445GRCh37Chr 17, 45361880: 45361880
3ITGB3NM_000212.2(ITGB3): c.718C> T (p.Arg240Trp)single nucleotide variantPathogenicrs121918446GRCh37Chr 17, 45363729: 45363729
4NM_000212.2(ITGB3): c.2332T> C (p.Ser778Pro)single nucleotide variantPathogenicrs121918447GRCh37Chr 17, 45387535: 45387535
5ITGB3ITGB3, IVSiDS, G-T, EXiDELdeletionPathogenic
6ITGB3NM_000212.2(ITGB3): c.1199G> A (p.Cys400Tyr)single nucleotide variantPathogenicrs121918449GRCh37Chr 17, 45368393: 45368393
7ITGB3ITGB3, 11.2-KB DELdeletionPathogenic
8NM_000212.2(ITGB3): c.2248C> T (p.Arg750Ter)single nucleotide variantPathogenicrs121918450GRCh37Chr 17, 45384950: 45384950
9ITGB3NM_000212.2(ITGB3): c.1924G> T (p.Glu642Ter)single nucleotide variantPathogenicrs121918451GRCh37Chr 17, 45377854: 45377854
10ITGB3ITGB3, 11-BP DEL, EX12deletionPathogenic
11ITGB3NM_000212.2(ITGB3): c.428T> G (p.Leu143Trp)single nucleotide variantPathogenicrs121918452GRCh37Chr 17, 45361875: 45361875
12ITGB3NM_000212.2(ITGB3): c.836A> T (p.Lys279Met)single nucleotide variantPathogenicrs79775494GRCh37Chr 17, 45364494: 45364494
13ITGB3NM_000212.2(ITGB3): c.740G> A (p.Gly247Asp)single nucleotide variantPathogenicrs79560904GRCh37Chr 17, 45363751: 45363751
14ITGA2BNM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr)single nucleotide variantPathogenicrs76811038GRCh37Chr 17, 42457148: 42457148
15ITGA2BNM_000419.4(ITGA2B): c.409-2_419delAGGCCTGCGCCCCdeletionPathogenicrs879255508GRCh37Chr 17, 42463074: 42463086
16ITGA2BITGA2B, 4.5-KB DEL, EX2-9deletionPathogenic
17ITGA2BNM_000419.4(ITGA2B): c.1750C> T (p.Arg584Ter)single nucleotide variantPathogenicrs137852906GRCh37Chr 17, 42457372: 42457372
18ITGA2BNM_000419.4(ITGA2B): c.2602-3C> Gsingle nucleotide variantPathogenicrs763330792GRCh37Chr 17, 42453087: 42453087
19ITGA2BNM_000419.4(ITGA2B): c.818G> A (p.Gly273Asp)single nucleotide variantPathogenicrs137852907GRCh37Chr 17, 42461935: 42461935
20ITGA2BNM_000419.4(ITGA2B): c.1544+1G> Asingle nucleotide variantPathogenicrs879255509GRCh37Chr 17, 42457753: 42457753
21ITGA2BNM_000419.4(ITGA2B): c.1073G> A (p.Arg358His)single nucleotide variantPathogenicrs137852908GRCh37Chr 17, 42460998: 42460998
22ITGA2BNM_000419.4(ITGA2B): c.1253G> A (p.Gly418Asp)single nucleotide variantPathogenicrs137852909GRCh37Chr 17, 42458387: 42458387
23ITGA2BNM_000419.4(ITGA2B): c.1366_1371delGTAGAC (p.Val456_Asp457del)deletionPathogenicrs780017389GRCh37Chr 17, 42458269: 42458274
24ITGA2BNM_000419.4(ITGA2B): c.1063G> A (p.Glu355Lys)single nucleotide variantPathogenicrs137852910GRCh37Chr 17, 42461008: 42461008
25ITGA2BNM_000419.4(ITGA2B): c.1787T> C (p.Ile596Thr)single nucleotide variantPathogenicrs76811038GRCh37Chr 17, 42457148: 42457148
26ITGA2BNM_000419.4(ITGA2B): c.641T> C (p.Leu214Pro)single nucleotide variantPathogenicrs137852911GRCh37Chr 17, 42462561: 42462561
27ITGA2BNM_000419.4(ITGA2B): c.2870C> T (p.Ser957Leu)single nucleotide variantPathogenicrs80002943GRCh37Chr 17, 42452100: 42452100
28ITGA2BNM_000419.4(ITGA2B): c.1878G> C (p.Gln626His)single nucleotide variantPathogenicrs80277041GRCh37Chr 17, 42457057: 42457057

Expression for genes affiliated with Glanzmann Thrombasthenia

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Search GEO for disease gene expression data for Glanzmann Thrombasthenia.

Pathways for genes affiliated with Glanzmann Thrombasthenia

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Pathways related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

(show all 29)
idSuper pathwaysScoreTop Affiliating Genes
110.0ITGA2B, ITGB3
2
Show member pathways
9.8ITGA2, ITGA2B, ITGB3
39.7ITGA2B, ITGB3, VWF
49.7ITGA2, ITGB3, VTN
5
Show member pathways
9.7ITGA2, ITGB3, VTN
69.6GP1BA, SELP, VTN
79.6GP1BA, GP9, VWF
89.5ITGA2, ITGA2B, ITGB3, VTN
99.5ITGA2, ITGA2B, ITGB3, VTN
109.5F2, F9
119.5GP1BA, ITGA2, ITGA2B, ITGB3
129.3GP1BA, GP9, ITGA2, VWF
139.2EGF, ITGA2B, ITGB3
149.2EGF, ITGA2B, ITGB3
158.9EGF, ITGA2, ITGA2B, ITGB3
16
Show member pathways
8.9F2, F2R, ITGA2, ITGA2B, ITGB3
17
Show member pathways
8.8F2, GP1BA, GP9, ITGA2B, ITGB3, VWF
188.7CD9, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
19
Show member pathways
8.6GP1BA, GP9, ITGA2, ITGA2B, ITGB3, VTN
20
Show member pathways
8.4EGF, ITGA2, ITGA2B, ITGB3, VTN, VWF
218.4F2R, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
22
Show member pathways
8.3F2, F3, F5, F8, F9
238.3F2, F2R, GP9, ITGA2, ITGA2B, ITGB3
24
Show member pathways
8.1EGF, F2, F2R, ITGA2, ITGA2B, ITGB3
257.9EGF, F2R, ITGA2, ITGA2B, ITGB3, VTN
26
Show member pathways
7.8EGF, F2, F2R, ITGA2, ITGA2B, ITGB3
27
Show member pathways
7.2F2, F2R, F3, F5, F8, F9
28
Show member pathways
6.9F2, F2R, F3, F5, F8, F9
29
Show member pathways
4.5CD9, EGF, F2, F2R, F3, F5

GO Terms for genes affiliated with Glanzmann Thrombasthenia

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Cellular components related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:007106210.8ITGB3, VTN
2integrin complexGO:000830510.6ITGA2, ITGA2B, ITGB3
3platelet alpha granuleGO:003109110.4F5, VWF
4platelet alpha granule membraneGO:00310929.9CD9, ITGA2B, ITGB3, SELP
5Golgi lumenGO:00057969.8F2, F9, VTN
6extracellular matrixGO:00310129.8F2, F3, VTN, VWF
7external side of plasma membraneGO:00098979.7CD9, ITGA2, ITGA2B, SELP
8platelet alpha granule lumenGO:00310939.1EGF, F5, F8, VWF
9endoplasmic reticulum lumenGO:00057889.0F2, F5, F8, F9
10cell surfaceGO:00099868.6CD9, F2R, F3, GP1BA, ITGA2, ITGA2B
11integral component of plasma membraneGO:00058878.1CD9, F2R, GP1BA, GP9, ITGA2B, ITGB3
12extracellular regionGO:00055767.0EGF, F2, F2R, F5, F8, F9
13extracellular exosomeGO:00700626.9CD9, EGF, F2, F3, F9, GP1BA
14extracellular spaceGO:00056156.7CD9, EGF, F2, F3, F5, F8
15plasma membraneGO:00058864.5CD9, EGF, F2, F2R, F3, F5

Biological processes related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.6ITGB3, VTN
2mesodermal cell differentiationGO:004833310.6ITGA2, ITGB3
3hemostasisGO:000759910.6GP1BA, VWF
4positive regulation of positive chemotaxisGO:005092710.5F3, ITGA2
5cell adhesion mediated by integrinGO:003362710.5ITGA2, VTN
6fibrinolysisGO:004273010.4F2, GP1BA
7platelet aggregationGO:007052710.3GP1BA, ITGA2B, ITGB3
8positive regulation of smooth muscle cell migrationGO:001491110.3F3, ITGA2, VTN
9blood coagulation, extrinsic pathwayGO:000759810.2F3, F9
10positive regulation of leukocyte migrationGO:000268710.2ITGA2, ITGA2B, SELP
11cell-substrate adhesionGO:003158910.2ITGA2, ITGB3, VWF
12peptidyl-glutamic acid carboxylationGO:001718710.1F2, F9
13thrombin receptor signaling pathwayGO:007049310.0F2R, GP1BA
14cell-matrix adhesionGO:000716010.0ITGA2, ITGA2B, ITGB3, VTN
15regulation of blood coagulationGO:00301939.9F2, F2R, GP1BA
16positive regulation of blood coagulationGO:00301949.9F2, F2R
17STAT protein import into nucleusGO:00072629.8EGF, F2R
18positive regulation of collagen biosynthetic processGO:00329679.8F2, F2R, ITGA2
19response to woundingGO:00096119.8F2, F2R, VWF
20integrin-mediated signaling pathwayGO:00072299.8ITGA2, ITGA2B, ITGB3
21positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.6EGF, ITGB3, VTN
22positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.6F2, F2R, SELP
23extracellular matrix organizationGO:00301989.5ITGA2, ITGA2B, ITGB3, VTN, VWF
24leukocyte migrationGO:00509009.4F2, ITGB3, SELP
25ER to Golgi vesicle-mediated transportGO:00068889.0F2, F5, F8, F9
26blood coagulation, intrinsic pathwayGO:00075978.8F2, F8, F9, GP1BA, GP9, VWF
27cell adhesionGO:00071557.8CD9, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
28platelet degranulationGO:00025767.6CD9, EGF, F5, F8, ITGA2B, ITGB3
29platelet activationGO:00301687.4CD9, F2, F2R, F5, F8, GP1BA
30blood coagulationGO:00075966.1F2, F2R, F3, F5, F8, F9

Molecular functions related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:001505710.5F2R, GP1BA
2extracellular matrix bindingGO:005084010.3ITGA2B, ITGB3, VTN
3collagen bindingGO:000551810.2ITGA2, VTN, VWF
4protease bindingGO:000202010.1F3, ITGB3, VWF
5integrin bindingGO:00051789.7CD9, ITGA2, VTN, VWF
6serine-type endopeptidase activityGO:00042528.7F2, F3, F5, F8, F9
7protein bindingGO:00055154.9CD9, EGF, F2, F2R, F3, F5

Sources for Glanzmann Thrombasthenia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet