GT1
MCID: GLN011
MIFTS: 68

Glanzmann Thrombasthenia 1 (GT1)

Categories: Blood diseases, Genetic diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Glanzmann Thrombasthenia 1

MalaCards integrated aliases for Glanzmann Thrombasthenia 1:

Name: Glanzmann Thrombasthenia 1 57 73 28 5
Glanzmann Thrombasthenia 57 11 19 42 58 75 28 53 5
Thrombasthenia of Glanzmann and Naegeli 57 11 19 73
Glanzmann's Thrombasthenia 11 14 38 75
Deficiency of Platelet Fibrinogen Receptor 11 42 73
Platelet Glycoprotein Iib-Iiia Deficiency 57 11 73
Bdplt2 57 11 73
Deficiency of Glycoprotein Complex Iib-Iiia 11 42
Glycoprotein Complex Iib-Iiia Deficiency 57 73
Platelet Fibrinogen Receptor Deficiency 57 42
Glanzmann Thrombasthenia, Type a 12 71
Glycoprotein Iib/iiia Defect 11 42
Thrombasthenia 43 71
Gt1 57 73
Gt 57 19
Platelet Fibrinogen Receptor, Deficiency of 19
Platelet Glycoprotein 2b 3a Deficiency 19
Hereditary Hemorrhagic Thrombasthenia 42
Bleeding Disorder, Platelet-Type, 2 57
Deficiency of Gp Iib-Iiia Complex 11
Platelet-Type Bleeding Disorder 2 11
Bleeding Disorder Platelet-Type 2 73
Glanzmann Thrombasthenia Type a 19
Gp Iib-Iiia Complex Deficiency 57
Deficiency of Gp 2b 3a Complex 19
Diacyclothrombopathia 2b 3a 19
Glanzmann-Naegeli Disorder 42
Hereditary Thrombasthenia 42
Thrombocytasthenia 11
Glanzmann Disease 42

Characteristics:


Inheritance:

Glanzmann Thrombasthenia 1: Autosomal recessive 57
Glanzmann Thrombasthenia: Autosomal recessive 58

Age Of Onset:

Glanzmann Thrombasthenia: Infancy,Neonatal 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
glanzmann thrombasthenia 1 and glanzmann thrombasthenia 2 are clinically indistinguishable and have 3 clinical subtypes
type i has absent glycoprotein iib/iiia expression (<5% normal)
type ii has reduced glycoprotein iib/iiia expression (5-25%)
type iii has normal levels of integrin, but the protein is nonfunctional
platelet alloimmunization may occur following platelet transfusion
estimated incidence of 1 in 1,000,000 (includes gt1 and gt2)
increased frequency in french romani, south indian hindus, iraqi jews, and jordanian nomadic tribes


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:2219
OMIM® 57 273800
OMIM Phenotypic Series 57 PS273800,PS231200
MeSH 43 D013915
NCIt 49 C61249
SNOMED-CT 68 32942005
ICD10 31 D69.1
ICD10 via Orphanet 32 D69.1
UMLS via Orphanet 72 C0040015
Orphanet 58 ORPHA849
MedGen 40 C0040015
UMLS 71 C0040015 C3179396

Summaries for Glanzmann Thrombasthenia 1

MedlinePlus Genetics: 42 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.About a quarter of individuals with Glanzmann thrombasthenia have bleeding in the gastrointestinal tract, which often occurs later in life. Rarely, affected individuals have bleeding inside the skull (intracranial hemorrhage) or joints (hemarthrosis).The severity and frequency of the bleeding episodes in Glanzmann thrombasthenia can vary greatly among affected individuals, even in the same family. Spontaneous bleeding tends to become less frequent with age.

MalaCards based summary: Glanzmann Thrombasthenia 1, also known as glanzmann thrombasthenia, is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 24. An important gene associated with Glanzmann Thrombasthenia 1 is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Signal Transduction and Disease. The drugs Fludarabine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include skin, tonsil and bone marrow, and related phenotypes are prolonged bleeding time and spontaneous, recurrent epistaxis

GARD: 19 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. This condition is inherited in an autosomal recessive fashion and is caused by genetic changes in either the ITGA2B or ITGB3 genes.

UniProtKB/Swiss-Prot: 73 A form of Glanzmann thrombasthenia, a disorder characterized by failure of platelet aggregation, absent or diminished clot retraction, and mucocutaneous bleeding of mild-to-moderate severity. Glanzmann thrombasthenia has been classified into clinical types I and II. In type I, platelets show absence of glycoprotein IIb-IIIa complexes at their surface and lack fibrinogen and clot retraction capability. In type II, the platelets express glycoprotein IIb-IIIa complexes at reduced levels, have detectable amounts of fibrinogen, and have low or moderate clot retraction capability. GT1 inheritance is autosomal recessive.

OMIM®: 57 Glanzmann thrombasthenia-1 (GT1) 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/IIIa (ITGB3; 173470) platelet surface fibrinogen receptor complex resulting from mutations in the GPIIb gene (Rosenberg et al., 1997). (273800) (Updated 08-Dec-2022)

Disease Ontology: 11 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.

Orphanet: 58 Glanzmann thrombasthenia (GT) is a bleeding syndrome characterized by spontaneous mucocutaneous bleeding and an exaggerated response to trauma due to a constitutional thrombocytopenia.

Wikipedia: 75 Glanzmann's thrombasthenia is an abnormality of the platelets. It is an extremely rare coagulopathy... more...

Related Diseases for Glanzmann Thrombasthenia 1

Diseases in the Glanzmann Thrombasthenia 1 family:

Glanzmann Thrombasthenia 2

Diseases related to Glanzmann Thrombasthenia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 300)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 2 33.3 ITGB3 EFCAB13-DT
2 bleeding disorder, platelet-type, 24 33.0 ITGB3 EFCAB13-DT
3 bleeding disorder, platelet-type, 16 32.9 ITGB3 ITGA2B EFCAB13-DT
4 thrombasthenia 32.0 VTN PTK2 ITGB3 ITGA2B ITGA2 GP1BA
5 qualitative platelet defect 31.6 VWF ITGA2B GP1BA F3
6 purpura 31.1 VWF PF4 ITGB3 ITGA2B GP1BA F3
7 thrombocytopenia due to platelet alloimmunization 30.9 VWF PF4 ITGB3 ITGA2B ITGA2 GP1BA
8 blood platelet disease 30.9 VWF RECK PF4 ITGB3 ITGA2B ITGA2
9 von willebrand's disease 30.9 VWF ITGA2B GP1BA F9 F8 F3
10 hemophilia 30.9 VWF F9 F8 F10
11 hemarthrosis 30.8 VWF F9 F8 F3 F10
12 angiodysplasia 30.8 VWF F8 F3
13 factor xiii deficiency 30.7 VWF F9 F8 F3
14 factor vii deficiency 30.7 F9 F8 F3 F10
15 hemophilia a 30.6 VWF F9 F8 F3 F10
16 pseudo-von willebrand disease 30.6 VWF GP1BA F8
17 fetal and neonatal alloimmune thrombocytopenia 30.6 ITGB3 ITGA2B ITGA2 GP1BA
18 vitamin k deficiency bleeding 30.5 F9 F8 F3
19 acquired von willebrand syndrome 30.5 VWF GP1BA F8 F3
20 hemorrhagic disease 30.4 VWF PF4 ITGA2B GP1BA F9 F8
21 deficiency anemia 30.4 VWF GP1BA FN1 F9 F3
22 thrombophilia 30.4 VWF PF4 ITGB3 F9 F8 F3
23 active peptic ulcer disease 30.4 VWF F3
24 factor xi deficiency 30.4 VWF F9 F8 F3 F10
25 factor viii deficiency 30.4 VWF F9 F8 F3 F10
26 bernard-soulier syndrome 30.4 VWF RECK ITGB3 ITGA2B ITGA2 GP1BA
27 thrombocytopenic purpura, autoimmune 30.3 PF4 ITGB3 ITGA2B GP1BA F8 F3
28 disseminated intravascular coagulation 30.3 VWF FN1 F9 F3 F10
29 bleeding disorder, platelet-type, 18 30.3 ITGB3 ITGA2B
30 pulmonary embolism 30.3 VWF GP1BA F9 F8 F3 F10
31 thrombophilia due to thrombin defect 30.3 VWF PF4 F9 F8 F3 F10
32 thrombosis 30.2 VWF PF4 ITGB3 ITGA2B ITGA2 GP1BA
33 factor xii deficiency 30.1 VWF F9 F3
34 lipoprotein quantitative trait locus 30.0 VWF PF4 ITGB3 ITGA2B FN1 F3
35 vascular disease 30.0 VWF VTN RECK ITGA2 GP1BA FN1
36 thrombocytopenia 30.0 VWF THBS1 RECK PF4 ITGB3 ITGA2B
37 prothrombin deficiency 30.0 F9 F8 F3 F10
38 thrombocytosis 29.9 VWF PF4 F3
39 hemophilia b 29.7 VWF PF4 GP1BA F9 F8 F3
40 myocardial infarction 29.5 VWF THBS1 PF4 ITGB3 ITGA2B ITGA2
41 bleeding disorder, platelet-type, 17 11.4
42 leukocyte adhesion deficiency, type i 11.3
43 leukocyte adhesion deficiency, type iii 11.3
44 congenital disorder of glycosylation, type iic 11.2
45 schlegelberger grote syndrome 11.0
46 rare hemorrhagic disorder 10.5
47 chronic bilirubin encephalopathy 10.4
48 endocarditis 10.4 PF4 ITGB3 GP1BA
49 autosomal dominant macrothrombocytopenia 10.4 ITGB3 ITGA2B GP1BA
50 medulloadrenal hyperfunction 10.4 VWF F3

Graphical network of the top 20 diseases related to Glanzmann Thrombasthenia 1:



Diseases related to Glanzmann Thrombasthenia 1

Symptoms & Phenotypes for Glanzmann Thrombasthenia 1

Human phenotypes related to Glanzmann Thrombasthenia 1:

58 30 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged bleeding time 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003010
2 spontaneous, recurrent epistaxis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004406
3 gingival bleeding 58 30 Frequent (33%) Frequent (79-30%)
HP:0000225
4 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000978
5 prolonged bleeding after surgery 58 30 Frequent (33%) Frequent (79-30%)
HP:0004846
6 prolonged bleeding following circumcision 58 30 Frequent (33%) Frequent (79-30%)
HP:0030137
7 gastrointestinal hemorrhage 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002239
8 spontaneous hematomas 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007420
9 menometrorrhagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0400008
10 ecchymosis 58 30 Very rare (1%) Occasional (29-5%)
HP:0031364
11 menorrhagia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000132
12 macroscopic hematuria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012587
13 impaired ristocetin-induced platelet aggregation 58 30 Very rare (1%) Very rare (<4-1%)
HP:0011871
14 impaired adp-induced platelet aggregation 58 30 Very rare (1%) Excluded (0%)
HP:0004866
15 impaired epinephrine-induced platelet aggregation 58 30 Very rare (1%) Excluded (0%)
HP:0008148
16 epistaxis 30 Very rare (1%) HP:0000421
17 excessive bleeding from superficial cuts 30 Very rare (1%) HP:0030138
18 subdural hemorrhage 30 Very rare (1%) HP:0100309
19 impaired collagen-induced platelet aggregation 30 Very rare (1%) HP:0008320
20 decreased platelet glycoprotein iib-iiia 30 Very rare (1%) HP:0001975
21 impaired clot retraction 30 Very rare (1%) HP:0031126
22 purpura 58 30 Occasional (29-5%)
HP:0000979
23 intracranial hemorrhage 30 HP:0002170
24 impaired arachidonic acid-induced platelet aggregation 58 Excluded (0%)
25 impaired thrombin-induced platelet aggregation 58 Excluded (0%)
26 impaired thromboxane a2 agonist-induced platelet aggregation 58 Excluded (0%)
27 impaired collagen-related peptide-induced platelet aggregation 58 Excluded (0%)
28 impaired platelet aggregation 30 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Laboratory Abnormalities:
hematuria

Skin Nails Hair Skin:
purpura
petechiae
ecchymoses
easy bruisability
hematoma

Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Skeletal Limbs:
hemarthroses (rare)

Neurologic Central Nervous System:
intracranial hemorrhage (rare)

Prenatal Manifestations Delivery:
risk of obstetric hemorrhage during delivery and postpartum period

Head And Neck Eyes:
hyphema

Abdomen Gastrointestinal:
gastrointestinal hemorrhage
hematochezia
melena

Head And Neck Mouth:
gingival bleeding

Respiratory Nasopharynx:
tonsil bleeding

Muscle Soft Tissue:
hematoma

Hematology:
glanzmann thrombasthenia
normal platelet count
normal platelet size
absent or decreased platelet aggregation with agonists (adp, collage, or thrombin receptor activating peptide)
decreased or absent platelet aggregation (<10%) with all physiologic agonists
more

Clinical features from OMIM®:

273800 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.33 CD47 CD9 F10 F2R F3 F8
2 cellular MP:0005384 10.21 CD47 CD9 F2R F3 FN1 GP1BA
3 nervous system MP:0003631 10.17 CD47 CD9 F2R F3 FN1 ITGA2B
4 cardiovascular system MP:0005385 10.13 CD47 F10 F2R F3 F9 FN1
5 hematopoietic system MP:0005397 10.09 CD47 CD9 F2R F3 F8 F9
6 immune system MP:0005387 10.07 CD47 CD9 F2R F3 F8 F9
7 neoplasm MP:0002006 10.06 CD47 CD9 F2R F3 FN1 ITGB3
8 mortality/aging MP:0010768 9.83 CD47 CD9 F10 F2R F3 F8
9 integument MP:0010771 9.28 CD47 F3 FN1 ITGA2 ITGA2B ITGB3

Drugs & Therapeutics for Glanzmann Thrombasthenia 1

Drugs for Glanzmann Thrombasthenia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 26)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
2
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
3 Antirheumatic Agents Phase 2
4 Immunosuppressive Agents Phase 2
5 Alkylating Agents Phase 2
6 Antineoplastic Agents, Alkylating Phase 2
7 Antimetabolites Phase 2
8 Hemostatics Phase 1, Phase 2
9
Abatacept Approved Phase 1 332348-12-6
10
Mycophenolic acid Approved, Investigational Phase 1 24280-93-1 446541
11 Immune Checkpoint Inhibitors Phase 1
12 Cyclosporins Phase 1
13
Busulfan Approved, Investigational 55-98-1 2478
14
Alemtuzumab Approved, Investigational 216503-57-0
15
Iron Approved 7439-89-6 29936
16
Sodium citrate Approved, Investigational 68-04-2 23431961
17
Alefacept Approved, Investigational, Withdrawn 222535-22-0
18
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
19 Antifibrinolytic Agents
20 Antilymphocyte Serum
21 Immunoglobulins
22 Antibodies
23 Factor VIII
24 Citrate
25 Immunologic Factors
26 Dermatologic Agents

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Active, not recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
2 Phase 1/2 Study to Evaluate the Pharmacokinetics, Pharmacodynamics, Safety, and Efficacy of Marzeptacog Alfa (Activated) in Treatment of Episodic Bleeding in Subjects With Inherited Bleeding Disorders Terminated NCT04548791 Phase 1, Phase 2
3 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Completed NCT01917708 Phase 1 Abatacept
4 Efficacy of NovoSeven® (Activated Recombinant Human Factor VII): Non-interventional Study in Patients With Congenital Haemophilia With Inhibitors, Acquired Haemophilia, Factor FVII Deficiency, and Glanzmann's Thrombasthenia Completed NCT00697320 eptacog alfa (activated)
5 A Multicentre, Non-interventional, Observational Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in Japan Completed NCT01876745 eptacog alfa (activated)
6 Treatment of Glanzmann's Thrombasthenia: A Prospective Observational Registry Completed NCT01476423 activated recombinant human factor VII
7 A Post-Marketing, Observational Study in Iran to Determine the Immunogenicity Status in Patients Who Have Received rFVIIa AryoSeven. Completed NCT03372993
8 Glanzmanns 360. The Lived Experience of People With Glanzmanns. Recruiting NCT05315232
9 Studies of Interactions Among Normal and Abnormal Blood Cells, and the Vessel Wall, and Studies of Genetic and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell and Coagulation Disorders Recruiting NCT00230165
10 MT2014-10C: Allogeneic Hematopoietic Stem Cell Transplant for Patients With High Risk Hemoglobinopathies and Other Red Cell Transfusion Dependent Disorders Recruiting NCT02179359 Reduced Toxicity Ablative Regimen;Reduced Intensity Preparative Regimen;Myeloablative Preparative Regimen
11 Anti-αIIbβ3 Immunization in Glanzmann Thrombasthenia: Prevalence and Associated Risk Factors: Thrombasthenia Anti-αIIbβ3 Antibodies Study (TAAS) Active, not recruiting NCT04595617
12 Interest of Sublingual Videomicroscopy for the Prediction of Bleeding in Von Willebrand Disease and Other Constitutional Haemorrhagic Diseases Not yet recruiting NCT04119908
13 Alefacept and Allogeneic Hematopoietic Stem Cell Transplantation for Children With Non-Malignant Diseases Who Have Been Multiply Transfused: a Pilot Study Terminated NCT01319851 Alefacept

Search NIH Clinical Center for Glanzmann Thrombasthenia 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


recombinant FVIIa

Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia 1

Genetic tests related to Glanzmann Thrombasthenia 1:

# Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia 28
2 Glanzmann Thrombasthenia 1 28 ITGA2B

Anatomical Context for Glanzmann Thrombasthenia 1

Organs/tissues related to Glanzmann Thrombasthenia 1:

MalaCards : Skin, Tonsil, Bone Marrow, Bone, Whole Blood, Monocytes, Endothelial
ODiseA: Blood And Bone Marrow

Publications for Glanzmann Thrombasthenia 1

Articles related to Glanzmann Thrombasthenia 1:

(show top 50) (show all 1192)
# Title Authors PMID Year
1
AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. 53 62 57 5
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). 53 62 57 5
16463284 2006
3
Glanzmann thrombasthenia: genetic basis and clinical correlates. 62 57 5
32139434 2020
4
Founder effect and estimation of the age of the French Gypsy mutation associated with Glanzmann thrombasthenia in Manouche families. 62 57 5
21487445 2011
5
Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb. 62 57 5
8282784 1994
6
Molecular defects in ITGA2B and ITGB3 genes in patients with Glanzmann thrombasthenia. 53 62 5
19691478 2009
7
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. 53 62 5
15886807 2005
8
A novel (288delC) mutation in exon 2 of GPIIb associated with type I Glanzmann's thrombasthenia. 53 62 5
11091187 2000
9
Homozygous Cys542-->Arg substitution in GPIIIa in a Swiss patient with type I Glanzmann's thrombasthenia. 53 62 5
10233432 1999
10
Molecular genetic analysis of a compound heterozygote for the glycoprotein (GP) IIb gene associated with Glanzmann's thrombasthenia: disruption of the 674-687 disulfide bridge in GPIIb prevents surface exposure of GPIIb-IIIa complexes. 53 62 5
9920835 1999
11
Truncation of glycoprotein (GP) IIIa (616-762) prevents complex formation with GPIIb: novel mutation in exon 11 of GPIIIa associated with thrombasthenia. 53 62 57
9845537 1998
12
Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia. 53 62 5
9734640 1998
13
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. 53 62 57
9160670 1997
14
Glanzmann thrombasthenia resulting from a single amino acid substitution between the second and third calcium-binding domains of GPIIb. Role of the GPIIb amino terminus in integrin subunit association. 53 62 5
7706461 1995
15
Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex. 53 62 5
1317725 1992
16
The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel. 53 62 57
2014236 1991
17
Integrin β3 Deficiency Results in Hypertriglyceridemia via Disrupting LPL (Lipoprotein Lipase) Secretion. 62 5
32237906 2020
18
Identification of one novel pathogenic ITGB3 mutation and two known mutations in two Chinese pedigrees with hereditary Glanzmann thrombasthenia. 62 5
31088191 2020
19
A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia. 62 5
31565851 2019
20
Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients. 62 5
30792900 2019
21
Clinical and molecular insights into Glanzmann's thrombasthenia in China. 62 5
29675921 2018
22
Novel mutations in Thai patients with glanzmann thrombasthenia. 62 5
28888044 2017
23
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. 62 5
28232155 2017
24
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. 62 5
27696190 2017
25
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. 62 5
26096001 2016
26
Expanding the Mutation Spectrum Affecting αIIbβ3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. 62 5
25728920 2015
27
αIIbβ3 variants defined by next-generation sequencing: predicting variants likely to cause Glanzmann thrombasthenia. 62 5
25827233 2015
28
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. 62 5
25373348 2015
29
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. 62 5
25539746 2014
30
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. 62 5
24418945 2014
31
Molecular dynamics analysis of a novel β3 Pro189Ser mutation in a patient with glanzmann thrombasthenia differentially affecting αIIbβ3 and αvβ3 expression. 62 5
24236036 2013
32
A novel amino acid substitution of integrin αIIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining β-propeller structure. 62 5
22394243 2013
33
Novel and recurrent mutations of ITGA2B and ITGB3 genes in Korean patients with Glanzmann thrombasthenia. 62 5
22190468 2012
34
Natural history of platelet antibody formation against αIIbβ3 in a French cohort of Glanzmann thrombasthenia patients. 62 5
22250950 2012
35
Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. 62 5
21917754 2011
36
Are bone defects in rare patients with Glanzmann's thrombasthenia associated with ITGB3 or ITGA2B mutations? 62 5
21557682 2011
37
Mutation analysis for a patient with Glanzmann thrombasthenia who produced a landmark isoantibody to the αIIbβ3 integrin. 62 5
20492470 2010
38
Role of RFLP using TspRI for carrier detection in Glanzmann's thrombasthenia: a report on two families. 62 5
19170775 2010
39
A unique combination of inhibitory and partially activating mutations in beta3 of a patient with variant-type Glanzmann thrombasthenia. 62 5
20438394 2010
40
Novel Mutations in the GPIIb and GPIIIa Genes in Glanzmann Thrombasthenia. 62 5
21113249 2010
41
Novel mutations in GP IIb gene in Glanzmann's thrombasthenia from India. 62 5
19172520 2009
42
A beta3 Asp217-->Val substitution in a patient with variant Glanzmann Thrombasthenia severely affects integrin alphaIIBbeta3 functions. 62 5
18832906 2008
43
Diversity of Glanzmann thrombasthenia in southern India: 10 novel mutations identified among 15 unrelated patients. 62 5
16879215 2006
44
Glanzmann thrombasthenia. 62 5
16722529 2006
45
A 13-bp deletion in alpha(IIb) gene is a founder mutation that predominates in Palestinian-Arab patients with Glanzmann thrombasthenia. 62 5
16359514 2005
46
Insertion of a C in the exon 28 of integrin alphaIIb gene leading to a frameshift mutation is responsible for Glanzmann thrombasthenia in a Japanese case. 62 5
15748238 2005
47
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. 62 5
15634267 2005
48
Triple heterozygosity in the integrin alphaIIb subunit in a patient with Glanzmann's thrombasthenia. 62 5
15099289 2004
49
Glanzmann's thrombasthenia due to a point mutation within intron 10 results in aberrant splicing of the beta3 gene. 62 5
14629479 2003
50
Two novel mutations in the alpha IIb calcium-binding domains identify hydrophobic regions essential for alpha IIbbeta 3 biogenesis. 62 5
12424194 2003

Variations for Glanzmann Thrombasthenia 1

ClinVar genetic disease variations for Glanzmann Thrombasthenia 1:

5 (show top 50) (show all 534)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA2B NM_000419.5(ITGA2B):c.818G>A (p.Gly273Asp) SNV Pathogenic
Likely Pathogenic
2894 rs137852907 GRCh37: 17:42461935-42461935
GRCh38: 17:44384567-44384567
2 ITGA2B NM_000419.5(ITGA2B):c.1544+1G>A SNV Pathogenic
Pathogenic
2895 rs879255509 GRCh37: 17:42457753-42457753
GRCh38: 17:44380385-44380385
3 ITGA2B NM_000419.5(ITGA2B):c.1073G>A (p.Arg358His) SNV Pathogenic
Pathogenic
2896 rs137852908 GRCh37: 17:42460998-42460998
GRCh38: 17:44383630-44383630
4 ITGA2B NM_000419.5(ITGA2B):c.1366_1371del (p.Val456_Asp457del) DEL Pathogenic
Likely Pathogenic
2898 rs780017389 GRCh37: 17:42458269-42458274
GRCh38: 17:44380901-44380906
5 ITGA2B NM_000419.5(ITGA2B):c.409-2_419del DEL Pathogenic
Pathogenic
2889 rs879255508 GRCh37: 17:42463074-42463086
GRCh38: 17:44385706-44385718
6 ITGA2B ITGA2B, 4.5-KB DEL, EX2-9 DEL Pathogenic
2890 GRCh37:
GRCh38:
7 ITGA2B NM_000419.5(ITGA2B):c.2344C>T (p.Arg782Ter) SNV Pathogenic
626927 rs1598377051 GRCh37: 17:42453680-42453680
GRCh38: 17:44376312-44376312
8 ITGA2B NM_000419.5(ITGA2B):c.1357C>T (p.Arg453Ter) SNV Pathogenic
631773 rs151179377 GRCh37: 17:42458283-42458283
GRCh38: 17:44380915-44380915
9 ITGA2B NM_000419.5(ITGA2B):c.2883del (p.Phe961fs) DEL Pathogenic
627052 rs1598375779 GRCh37: 17:42452087-42452087
GRCh38: 17:44374719-44374719
10 ITGA2B NM_000419.5(ITGA2B):c.559del (p.Val187fs) DEL Pathogenic
Likely Pathogenic
627093 rs1469711487 GRCh37: 17:42462934-42462934
GRCh38: 17:44385566-44385566
11 ITGB3 NM_000212.3(ITGB3):c.1409dup (p.Asn470fs) DUP Pathogenic
627234 rs1386425657 GRCh37: 17:45369651-45369652
GRCh38: 17:47292285-47292286
12 ITGB3 NM_000212.3(ITGB3):c.565C>T (p.Pro189Ser) SNV Pathogenic
812736 rs958609406 GRCh37: 17:45362012-45362012
GRCh38: 17:47284646-47284646
13 ITGA2B NM_000419.5(ITGA2B):c.1075_1078del (p.Val359fs) MICROSAT Pathogenic
953001 rs2048615633 GRCh37: 17:42460993-42460996
GRCh38: 17:44383625-44383628
14 ITGA2B NM_000419.5(ITGA2B):c.1440-13_1440-1del DEL Pathogenic
Uncertain Significance
953002 rs2048585829 GRCh37: 17:42457859-42457871
GRCh38: 17:44380491-44380503
15 ITGB3 NM_000212.3(ITGB3):c.2014+1G>A SNV Pathogenic
953009 rs2065163860 GRCh37: 17:45377945-45377945
GRCh38: 17:47300579-47300579
16 ITGA2B NM_000419.5(ITGA2B):c.624+2C>A SNV Pathogenic
953013 rs2048635467 GRCh37: 17:42462652-42462652
GRCh38: 17:44385284-44385284
17 ITGA2B NM_000419.5(ITGA2B):c.1545-1del DEL Pathogenic
953017 rs2048583710 GRCh37: 17:42457670-42457670
GRCh38: 17:44380302-44380302
18 ITGA2B NM_000419.5(ITGA2B):c.2153dup (p.Cys718fs) DUP Pathogenic
953023 rs2048557642 GRCh37: 17:42455099-42455100
GRCh38: 17:44377731-44377732
19 ITGB3 NM_000212.3(ITGB3):c.1030dup (p.Tyr344fs) DUP Pathogenic
953026 rs2065118104 GRCh37: 17:45367136-45367137
GRCh38: 17:47289770-47289771
20 ITGA2B NM_000419.5(ITGA2B):c.1882C>T (p.Arg628Ter) SNV Pathogenic
953033 rs1236922680 GRCh37: 17:42456075-42456075
GRCh38: 17:44378707-44378707
21 ITGA2B NM_000419.5(ITGA2B):c.291del (p.Ser98fs) DEL Pathogenic
953034 rs2048645725 GRCh37: 17:42463397-42463397
GRCh38: 17:44386029-44386029
22 ITGA2B NM_000419.5(ITGA2B):c.91del (p.Ala31fs) DEL Pathogenic
953035 rs2048678902 GRCh37: 17:42466751-42466751
GRCh38: 17:44389383-44389383
23 ITGB3 NM_000212.3(ITGB3):c.1791del (p.Asn597fs) DEL Pathogenic
953049 rs780710721 GRCh37: 17:45376774-45376774
GRCh38: 17:47299408-47299408
24 ITGB3 NM_000212.3(ITGB3):c.79+1G>A SNV Pathogenic
953050 rs2064977538 GRCh37: 17:45331307-45331307
GRCh38: 17:47253941-47253941
25 ITGB3 NM_000212.3(ITGB3):c.2113del (p.Leu705fs) DEL Pathogenic
953051 rs780384800 GRCh37: 17:45380184-45380184
GRCh38: 17:47302818-47302818
26 ITGB3 NM_000212.3(ITGB3):c.774_775del (p.Cys258_Asp259delinsTer) MICROSAT Pathogenic
953052 rs2065103002 GRCh37: 17:45363783-45363784
GRCh38: 17:47286417-47286418
27 ITGA2B NM_000419.5(ITGA2B):c.2671C>T (p.Gln891Ter) SNV Pathogenic
953054 rs200846140 GRCh37: 17:42453015-42453015
GRCh38: 17:44375647-44375647
28 ITGA2B NM_000419.5(ITGA2B):c.682C>T (p.Gln228Ter) SNV Pathogenic
953056 rs2048632227 GRCh37: 17:42462433-42462433
GRCh38: 17:44385065-44385065
29 ITGB3 NM_000212.3(ITGB3):c.1550del (p.Gly517fs) DEL Pathogenic
953059 rs1393664515 GRCh37: 17:45369792-45369792
GRCh38: 17:47292426-47292426
30 ITGA2B NM_000419.5(ITGA2B):c.2915dup (p.Leu973fs) DUP Pathogenic
953045 rs781644489 GRCh37: 17:42452054-42452055
GRCh38: 17:44374686-44374687
31 ITGB3 NM_000212.3(ITGB3):c.122_125dup (p.Cys42Ter) DUP Pathogenic
953030 rs2065055824 GRCh37: 17:45351826-45351827
GRCh38: 17:47274460-47274461
32 ITGA2B NM_000419.5(ITGA2B):c.1618C>T (p.Gln540Ter) SNV Pathogenic
953031 rs1344768030 GRCh37: 17:42457504-42457504
GRCh38: 17:44380136-44380136
33 ITGB3 NM_000212.3(ITGB3):c.505C>T (p.Arg169Ter) SNV Pathogenic
953061 rs1038392991 GRCh37: 17:45361952-45361952
GRCh38: 17:47284586-47284586
34 ITGB3 NM_000212.3(ITGB3):c.224del (p.Cys75fs) DEL Pathogenic
953063 rs753932639 GRCh37: 17:45360778-45360778
GRCh38: 17:47283412-47283412
35 ITGA2B NM_000419.5(ITGA2B):c.1413C>G (p.Tyr471Ter) SNV Pathogenic
953064 rs78218617 GRCh37: 17:42457994-42457994
GRCh38: 17:44380626-44380626
36 ITGB3 NM_000212.3(ITGB3):c.1641C>A (p.Cys547Ter) SNV Pathogenic
977131 rs185135224 GRCh37: 17:45369885-45369885
GRCh38: 17:47292519-47292519
37 ITGB3 NM_000212.3(ITGB3):c.1697G>A (p.Gly566Asp) SNV Pathogenic
977132 rs2065157059 GRCh37: 17:45376680-45376680
GRCh38: 17:47299314-47299314
38 ITGA2B NM_000419.5(ITGA2B):c.917dup (p.Arg307fs) DUP Pathogenic
996157 rs78321762 GRCh37: 17:42461480-42461481
GRCh38: 17:44384112-44384113
39 ITGB3 NM_000212.3(ITGB3):c.1871G>A (p.Cys624Tyr) SNV Pathogenic
996162 rs1181336139 GRCh37: 17:45376854-45376854
GRCh38: 17:47299488-47299488
40 ITGB3 NM_000212.3(ITGB3):c.724C>T (p.Arg242Ter) SNV Pathogenic
996164 rs758633284 GRCh37: 17:45363735-45363735
GRCh38: 17:47286369-47286369
41 ITGB3 NM_000212.3(ITGB3):c.1913+1G>A SNV Pathogenic
996179 rs2065158302 GRCh37: 17:45376897-45376897
GRCh38: 17:47299531-47299531
42 ITGA2B NM_000419.5(ITGA2B):c.1913dup (p.Cys639fs) DUP Pathogenic
996206 rs75028796 GRCh37: 17:42456043-42456044
GRCh38: 17:44378675-44378676
43 ITGB3 NM_000212.3(ITGB3):c.262C>T (p.Arg88Ter) SNV Pathogenic
996209 rs1399113954 GRCh37: 17:45360816-45360816
GRCh38: 17:47283450-47283450
44 ITGA2B NM_000419.5(ITGA2B):c.1652G>A (p.Arg551Gln) SNV Pathogenic
996210 rs769405222 GRCh37: 17:42457470-42457470
GRCh38: 17:44380102-44380102
45 ITGA2B NM_000419.5(ITGA2B):c.2236G>T (p.Glu746Ter) SNV Pathogenic
996211 rs2048550784 GRCh37: 17:42454408-42454408
GRCh38: 17:44377040-44377040
46 ITGA2B NM_000419.5(ITGA2B):c.1878G>C (p.Gln626His) SNV Pathogenic
Likely Pathogenic
2903 rs80277041 GRCh37: 17:42457057-42457057
GRCh38: 17:44379689-44379689
47 ITGA2B NM_000419.5(ITGA2B):c.2870C>T (p.Ser957Leu) SNV Pathogenic
Likely Pathogenic
2902 rs80002943 GRCh37: 17:42452100-42452100
GRCh38: 17:44374732-44374732
48 ITGA2B NM_000419.5(ITGA2B):c.1346G>A (p.Gly449Asp) SNV Pathogenic
Likely Pathogenic
691627 rs1598380253 GRCh37: 17:42458294-42458294
GRCh38: 17:44380926-44380926
49 ITGA2B NM_000419.5(ITGA2B):c.2602-3C>G SNV Pathogenic
Likely Pathogenic
2893 rs763330792 GRCh37: 17:42453087-42453087
GRCh38: 17:44375719-44375719
50 ITGB3 NM_000212.3(ITGB3):c.728A>T (p.Asp243Val) SNV Pathogenic
1210177 GRCh37: 17:45363739-45363739
GRCh38: 17:47286373-47286373

UniProtKB/Swiss-Prot genetic disease variations for Glanzmann Thrombasthenia 1:

73 (show all 32)
# Symbol AA change Variation ID SNP ID
1 ITGA2B p.Gly273Asp VAR_003979 rs137852907
2 ITGA2B p.Arg358His VAR_003980 rs137852908
3 ITGA2B p.Gly449Asp VAR_003981 rs1598380253
4 ITGA2B p.Gln778Pro VAR_003982 rs74475415
5 ITGA2B p.Pro176Ala VAR_009885
6 ITGA2B p.Pro176Leu VAR_009886
7 ITGA2B p.Phe320Ser VAR_009887
8 ITGA2B p.Glu355Lys VAR_009888 rs137852910
9 ITGA2B p.Leu86Pro VAR_030445 rs1052533574
10 ITGA2B p.Ala139Val VAR_030446
11 ITGA2B p.Cys161Trp VAR_030447
12 ITGA2B p.Tyr174His VAR_030448
13 ITGA2B p.Phe202Cys VAR_030449
14 ITGA2B p.Thr207Ile VAR_030450
15 ITGA2B p.Leu214Pro VAR_030451 rs137852911
16 ITGA2B p.Phe222Leu VAR_030452
17 ITGA2B p.Gly267Glu VAR_030453
18 ITGA2B p.Val329Phe VAR_030454
19 ITGA2B p.Gly380Asp VAR_030455 rs766006685
20 ITGA2B p.Ile405Thr VAR_030456 rs75622274
21 ITGA2B p.Gly412Arg VAR_030457 rs780786843
22 ITGA2B p.Ala581Asp VAR_030459
23 ITGA2B p.Ile596Thr VAR_030460 rs76811038
24 ITGA2B p.Cys705Arg VAR_030461 rs77961246
25 ITGA2B p.Leu752Val VAR_030462 rs761174160
26 ITGA2B p.Arg755Pro VAR_030463 rs763762304
27 ITGA2B p.Leu847Pro VAR_030464 rs1344532070
28 ITGA2B p.Pro943Leu VAR_030465
29 ITGA2B p.Val982Met VAR_030466 rs78657866
30 ITGA2B p.Arg1026Gln VAR_030468 rs879255514
31 ITGA2B p.Val934Phe VAR_069917 rs77458039
32 ITGA2B p.Ser957Leu VAR_069918 rs80002943

Expression for Glanzmann Thrombasthenia 1

Search GEO for disease gene expression data for Glanzmann Thrombasthenia 1.

Pathways for Glanzmann Thrombasthenia 1

Pathways related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Super pathways Score Top Affiliating Genes
1 13.78 VWF THBS1 RAP1A PTK2 PF4 ITGB3
2
Show member pathways
13.76 VWF THBS1 RAP1A PTK2 ITGB3 ITGA2B
3
Show member pathways
13.36 VTN THBS1 RAP1A PTK2 PF4 ITGB3
4
Show member pathways
13.06 RAP1A PTK2 ITGB3 ITGA2B ITGA2 FN1
5
Show member pathways
12.86 VWF VTN THBS1 PTK2 ITGB3 ITGA2B
6
Show member pathways
12.84 RAP1A PTK2 ITGB3 ITGA2B ITGA2
7 12.83 THBS1 RAP1A PTK2 ITGB3 ITGA2 FN1
8
Show member pathways
12.81 RAP1A PTK2 ITGB3 ITGA2B ITGA2 FN1
9
Show member pathways
12.73 RAP1A PTK2 ITGB3 ITGA2B ITGA2
10
Show member pathways
12.7 CD47 FN1 ITGA2 ITGA2B ITGB3 THBS1
11 12.69 PTK2 ITGB3 ITGA2 FN1 CD47
12
Show member pathways
12.66 VWF RAP1A ITGB3 ITGA2B FN1
13
Show member pathways
12.64 VTN THBS1 ITGB3 ITGA2B ITGA2 F10
14
Show member pathways
12.61 VWF THBS1 RAP1A PTK2 PF4 ITGB3
15
Show member pathways
12.59 VTN PTK2 ITGB3 ITGA2 FN1
16
Show member pathways
12.56 RAP1A PTK2 ITGB3 FN1
17
Show member pathways
12.43 VWF PF4 GP1BA F9 F8 F3
18
Show member pathways
12.42 FN1 ITGA2 PTK2 RAP1A THBS1 VTN
19
Show member pathways
12.4 VTN PTK2 ITGB3 FN1
20
Show member pathways
12.28 RAP1A PTK2 ITGB3 ITGA2B ITGA2
21
Show member pathways
12.22 PF4 ITGB3 FN1 CD47
22
Show member pathways
12.22 VTN THBS1 ITGB3 ITGA2 FN1
23
Show member pathways
12.19 PTK2 ITGB3 ITGA2B ITGA2
24
Show member pathways
12.15 VWF RAP1A ITGB3 ITGA2B FN1
25
Show member pathways
12.09 VTN ITGB3 ITGA2B ITGA2 FN1
26 12.04 RAP1A PTK2 ITGB3 F3
27 12.01 ITGB3 ITGA2B ITGA2 GP1BA
28
Show member pathways
11.98 VWF VTN THBS1 ITGB3 ITGA2B ITGA2
29
Show member pathways
11.92 F9 F8 F10
30 11.91 FN1 ITGA2 ITGA2B PTK2
31 11.9 VTN THBS1 FN1
32 11.9 VWF VTN THBS1 RAP1A PTK2 ITGB3
33
Show member pathways
11.85 VWF RAP1A PTK2 ITGB3 ITGA2B GP1BA
34 11.84 VWF THBS1 RECK ITGB3 F3
35
Show member pathways
11.78 VTN ITGB3 FN1
36 11.75 ITGA2 ITGA2B ITGB3 PTK2 RAP1A
37 11.73 VTN PTK2 ITGB3
38 11.67 ITGB3 PTK2 VTN
39 11.64 VTN PTK2 ITGB3 FN1
41 11.56 RAP1A PTK2 ITGB3 ITGA2B ITGA2
42 11.54 VWF ITGB3 ITGA2B ITGA2 F2R
43 11.44 VTN ITGB3 FN1
44 11.4 ITGA2B ITGA2 FN1
45 11.39 PF4 ITGB3 ITGA2B F3
46 11.37 THBS1 PTK2 FN1
47 11.35 VTN THBS1 FN1
48 11.32 CD47 FN1 ITGA2B ITGB3 THBS1 VTN
49 11.31 THBS1 PTK2 FN1
50
Show member pathways
11.25 VWF ITGA2 GP1BA

GO Terms for Glanzmann Thrombasthenia 1

Cellular components related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.57 VWF VTN THBS1 RAP1A ITGB3 ITGA2B
2 extracellular space GO:0005615 10.47 CD9 F10 F3 F8 F9 FN1
3 extracellular region GO:0005576 10.45 CD9 F10 F2R F3 F8 F9
4 endoplasmic reticulum lumen GO:0005788 10.24 THBS1 FN1 F9 F8 F10
5 extracellular matrix GO:0031012 10.16 FN1 GP1BA THBS1 VTN VWF
6 cell surface GO:0009986 10.16 CD47 F2R F3 GP1BA ITGA2 ITGA2B
7 Golgi lumen GO:0005796 10.1 VTN F9 F8 F10
8 collagen-containing extracellular matrix GO:0062023 10 VWF VTN THBS1 PF4 FN1 F9
9 integrin complex GO:0008305 9.93 ITGB3 ITGA2B ITGA2
10 fibrinogen complex GO:0005577 9.85 THBS1 FN1
11 platelet alpha granule membrane GO:0031092 9.8 ITGB3 ITGA2B CD9
12 alphav-beta3 integrin-vitronectin complex GO:0071062 9.78 VTN ITGB3
13 external side of plasma membrane GO:0009897 9.77 CD9 F10 F3 GP1BA ITGA2 ITGA2B
14 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10
15 platelet alpha granule lumen GO:0031093 9.32 VWF THBS1 PF4 FN1 F8

Biological processes related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell migration GO:0016477 10.25 VTN THBS1 PTK2 ITGB3 CD47
2 cell adhesion GO:0007155 10.21 CD47 CD9 FN1 GP1BA ITGA2 ITGA2B
3 positive regulation of cell migration GO:0030335 10.2 THBS1 PTK2 ITGB3 F3 F2R F10
4 positive regulation of protein kinase B signaling GO:0051897 10.13 F10 F3 PTK2 THBS1
5 cell-matrix adhesion GO:0007160 10.13 FN1 ITGA2 ITGA2B ITGB3 VTN
6 integrin-mediated signaling pathway GO:0007229 10.1 PTK2 ITGB3 ITGA2B ITGA2 FN1 CD47
7 positive regulation of smooth muscle cell proliferation GO:0048661 10.04 THBS1 ITGB3 ITGA2
8 platelet aggregation GO:0070527 10.03 ITGB3 GP1BA FN1
9 cell adhesion mediated by integrin GO:0033627 10.01 VTN ITGB3 ITGA2B ITGA2
10 cell-substrate adhesion GO:0031589 9.99 VWF ITGB3 ITGA2
11 positive regulation of smooth muscle cell migration GO:0014911 9.97 VTN ITGB3 ITGA2
12 positive regulation of fibroblast migration GO:0010763 9.95 THBS1 PTK2 ITGB3
13 platelet activation GO:0030168 9.93 VWF PF4 ITGB3 GP1BA F2R CD9
14 thrombin-activated receptor signaling pathway GO:0070493 9.88 GP1BA F2R
15 blood coagulation, intrinsic pathway GO:0007597 9.88 GP1BA F8
16 cell-substrate junction assembly GO:0007044 9.84 ITGB3 FN1
17 hemostasis GO:0007599 9.56 F10 F2R F3 F8 F9 GP1BA
18 blood coagulation GO:0007596 9.55 VWF ITGB3 ITGA2 GP1BA F9 F8
19 regulation of body fluid levels GO:0050878 9.54 F9 F8 F10

Molecular functions related to Glanzmann Thrombasthenia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 10.03 VTN THBS1 PF4 FN1
2 extracellular matrix structural constituent GO:0005201 10.01 VWF VTN THBS1 FN1
3 protease binding GO:0002020 9.86 VWF ITGB3 FN1 F3
4 collagen binding GO:0005518 9.76 FN1 ITGA2 VTN VWF
5 thrombin-activated receptor activity GO:0015057 9.67 GP1BA F2R
6 fibrinogen binding GO:0070051 9.62 THBS1 ITGB3
7 integrin binding GO:0005178 9.58 VWF VTN THBS1 PTK2 ITGB3 ITGA2B
8 extracellular matrix binding GO:0050840 9.5 VTN THBS1 ITGB3 ITGA2B

Sources for Glanzmann Thrombasthenia 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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