GT
MCID: GLN010
MIFTS: 63

Glanzmann Thrombasthenia (GT) 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 52 11 48 25 54 70 12 50
Deficiency of Platelet Fibrinogen Receptor 11 25 70
Thrombasthenia of Glanzmann and Naegeli 11 48 70
Glanzmann's Thrombasthenia 11 27 13
Deficiency of Glycoprotein Complex Iib-Iiia 11 25
Platelet Glycoprotein Iib-Iiia Deficiency 11 70
Glycoprotein Iib/iiia Defect 11 25
Thrombasthenia 39 68
Bdplt2 11 70
Gt 48 70
Platelet Fibrinogen Receptor, Deficiency of 48
Platelet Fibrinogen Receptor Deficiency 25
Platelet Glycoprotein 2b 3a Deficiency 48
 
Hereditary Hemorrhagic Thrombasthenia 25
Bleeding Disorder Platelet-Type 2 70
Deficiency of Gp Iib-Iiia Complex 11
Platelet-Type Bleeding Disorder 2 11
Glanzmann Thrombasthenia, Type a 68
Glanzmann Thrombasthenia Type a 48
Deficiency of Gp 2b 3a Complex 48
Diacyclothrombopathia 2b 3a 48
Glanzmann-Naegeli Disorder 25
Hereditary Thrombasthenia 25
Thrombocytasthenia 11
Glanzmann Disease 25

Characteristics:

Orphanet epidemiological data:

54
glanzmann thrombasthenia:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal

HPO:

64
glanzmann thrombasthenia:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 273800
Disease Ontology11 DOID:2219
ICD1030 D69.1
MeSH39 D013915
NCIt45 C61249
Orphanet54 ORPHA849
ICD10 via Orphanet31 D69.1
MedGen37 C0040015

Summaries for Glanzmann Thrombasthenia

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NIH Rare Diseases:48 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 deficiency of platelet fibrinogen receptor, is related to hemarthrosis and low gamma-gt familial intrahepatic cholestasis, and has symptoms including menorrhagia, gingival bleeding and epistaxis. An important gene associated with Glanzmann Thrombasthenia is ITGB3 (Integrin Subunit Beta 3), and among its related pathways are Signal transduction by L1 and Ephrin B reverse signaling. Affiliated tissues include skin, bone marrow and bone, and related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

UniProtKB/Swiss-Prot:70 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.

Genetics Home Reference:25 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:52 Glanzmann thrombasthenia is an autosomal recessive bleeding disorder characterized by failure of platelet aggregation... (273800) more...

Disease Ontology:11 An inherited 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.

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 119)
idRelated DiseaseScoreTop Affiliating Genes
1hemarthrosis30.4F2, F3
2low gamma-gt familial intrahepatic cholestasis12.0
3bleeding disorder, platelet-type, 16, autosomal dominant11.3
4gilles de la tourette syndrome11.3
5bernard-soulier syndrome, type c11.1
6leukocyte adhesion deficiency, type iii11.1
7leukocyte adhesion deficiency11.1
8thrombasthenia of glanzmann and naegeli, itga2b-related11.1
9thrombasthenia of glanzmann and naegeli, itgb3-related11.1
10thrombasthenia11.0
11bleeding disorder, platelet-type, 1711.0
12talipes equinovarus11.0
13cholestasis, progressive familial intrahepatic 110.8
14cholestasis, benign recurrent intrahepatic10.8
15interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.3ITGA2B, ITGB3
16supraumbilical midabdominal raphe and facial cavernous hemangiomas10.2F2, ITGB3
17ischemic fasciitis10.2F2, ITGA2
18influenza10.2F2, F3
19facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome10.2GP1BA, ITGA2B, ITGB3
20pancreatic ductal carcinoma10.2F2, F3
21thrombosis10.2
22chorioretinal scar10.2F2, F3
23villous adenoma10.2F2, GP1BA, ITGB3
24trismus-pseudocamptodactyly syndrome10.2GP1BA, VWF
25autoimmune disease of central nervous system10.2F2, GP1BA, ITGB3
26hendra virus infection10.2F2, F3
27hereditary alpha tryptasemia syndrome10.2F2, F3, ITGB3
28hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.2F3, SELP
29mixed hepatoblastoma10.2F2, F3
30gluten allergy10.2ITGA2B, ITGB3, VWF
31subclavian artery aneurysm10.1F3, ITGA2B, SELP
32vcl-related familial hypertrophic cardiomyopathy10.1F8, VWF
33vcp-related amyotrophic lateral sclerosis/frontotemporal dementia10.1F8, VWF
34fetal macrosomia10.1GP1BA, ITGA2, ITGA2B, ITGB3
35dmd-related dilated cardiomyopathy10.1F2, F3
36sporotrichosis10.1F2, F3
37high anorectal malformation10.1F8, VWF
38headache10.1F8, VWF
39epstein-barr virus hepatitis10.1F2, F3, VWF
40primary peritoneal carcinoma10.1F8, F9
41small intestinal l-cell glucagon-like peptide producing tumor10.1F2, VWF
42granulomatous hepatitis10.1F2, F3, SELP
43sertoli-leydig cell tumor10.1F2, F3, SELP
44hennekam lymphangiectasia-lymphedema syndrome 210.1F2, F3, VWF
45freiberg's disease10.1F2, F3, F8
46dyskinetic cerebral palsy10.1F2, F3, F8
47stroke, ischemic10.1F2, F3, F8
48immunodeficiency 2010.1GP1BA, ITGA2B, ITGB3, SELP
49xerophthalmia10.1F2, SELP, VWF
50low anorectal malformation10.1F2, F3, F8

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



Diseases related to glanzmann thrombasthenia

Symptoms & Phenotypes for Glanzmann Thrombasthenia

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Symptoms by clinical synopsis from OMIM:

273800

Clinical features from OMIM:

273800

Human phenotypes related to Glanzmann Thrombasthenia:

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 menorrhagia64 HP:0000132
2 gingival bleeding64 HP:0000225
3 epistaxis64 HP:0000421
4 bruising susceptibility64 HP:0000978
5 purpura64 HP:0000979
6 decreased platelet glycoprotein iib-iiia64 HP:0001975
7 intracranial hemorrhage64 HP:0002170
8 gastrointestinal hemorrhage64 HP:0002239
9 prolonged bleeding time64 HP:0003010
10 impaired platelet aggregation64 HP:0003540

MGI Mouse Phenotypes related to Glanzmann Thrombasthenia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9F2, F2R, F3, F9, ITGA2B, ITGB3
2MP:00053766.5F2, F2R, F3, F8, F9, GP1BA
3MP:00053876.0CD9, F2, F2R, F3, F8, F9
4MP:00053975.5CD9, F2, F2R, F3, F8, F9

Drugs & Therapeutics for Glanzmann Thrombasthenia

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

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AbataceptapprovedPhase 1197332348-12-610237
Synonyms:
CTLA4-Ig
 
CTLA4-IgG4m
CTLA4Ig
CTLA4IgG4m
2
Mycophenolate mofetilapproved, investigationalPhase 1952128794-94-55281078
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
Mycophenolic acidapprovedPhase 195224280-93-1446541
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
4
Cyclosporineapproved, investigational, vet_approvedPhase 192279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
5Antirheumatic AgentsPhase 110956
6Immunosuppressive AgentsPhase 113086
7
Busulfanapproved, investigational54555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
8
Fludarabineapproved115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
9
Ironapproved11657439-89-623925
Synonyms:
02583_FLUKA
12310_ALDRICH
12310_RIEDEL
129048-51-7
14067-02-8
161135-39-3
190454-13-8
195161-83-2
199281-22-6
209309_ALDRICH
209309_SIAL
255637_ALDRICH
266213_ALDRICH
266256_ALDRICH
267945_ALDRICH
267953_ALDRICH
26Fe
338141_ALDRICH
356808_ALDRICH
356824_ALDRICH
356832_ALDRICH
39344-71-3
3ZhP
413054_ALDRICH
443783-52-6
44890_ALDRICH
44890_FLUKA
675141-17-0
70884-35-4
73135-38-3
7439-89-6
8011-79-8
8053-60-9
AC1L2N38
ATW 230
ATW 432
Ancor B
Ancor en 80/150
Armco iron
Atomel 28
Atomel 300M200
Atomel 500M
Atomel 95
Atomiron 44MR
Atomiron 5M
Atomiron AFP 25
Atomiron AFP 5
C00023
C3518_SIAL
C3518_SIGMA
CCRIS 1580
CHEBI:18248
CID23925
Carbonyl iron
Copy Powder CS 105-175
D007501
DB01592
DSP 1000
DSP 128B
DSP 135
DSP 135C
DSP 138
Diseases (animal), iron overload
Diseases, iron overload
EF 1000
EF 250
EFV 200/300
EFV 250
EFV 250/400
EINECS 231-096-4
 
Ed-In-Sol
Eisen
Electrolytic iron
F 60 (metal)
FE
FT 3 (element)
Fe
Fe-40
Fe1+
Feronate
Ferretts
Ferro-Caps
Ferro-Time
Ferrousal
Ferrovac E
Ferrum
Ferrum metallicum
GS 6
HF 2 (element)
HL (iron)
HQ (metal)
HS (iron)
HS 4849
HSDB 604
Hemocyte
Hierro
Hoeganaes ATW 230
Hoeganaes EH
IRMM524A_FLUKA
IRMM524B_FLUKA
IRON
Iron (Fe)
Iron (Fe1+)
Iron ion (Fe+)
Iron ion(1+)
Iron monocation
Iron powder
Iron standard for AAS
Iron(1+)
Iron(1+) ion
Iron(III) nitrate solution
Iron, carbonyl
Iron, electrolytic
Iron, elemental
Iron, ion (Fe1+)
Iron, ion (Fe1+) (8CI,9CI)
Iron, reduced
LOHA
LS-3196
MolPort-003-925-001
NC 100
PZh-1M3
PZh-2
PZh1M1
PZh2M
PZh2M1
PZh2M2
PZh3
PZh3M
PZh4M
PZhO
Reduced iron
Remko
SUY-B 2
Siderol
UNII-E1UOL152H7
Vitedyn-Slo
Yieronia
fer
ferrous iron
hierro
10
Cyclophosphamideapproved, investigational293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
11
alemtuzumabapproved, investigational310216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab
12Hemostatics1443
13Antifibrinolytic Agents484
14Antilymphocyte Serum408
15Dermatologic Agents5806

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
3Evaluation of Menses in Congenital Bleeding DisordersUnknown statusNCT01261936
4Evaluation of a New Approach of the Diagnosis of Constitutional Functional Disorders of PlateletsUnknown statusNCT01957345
5Observational Registry of the Treatment of Glanzmann's ThrombastheniaCompletedNCT01476423
6Observational Study on the Efficacy and Safety of NovoSeven® During "Real-life" Usage in GermanyCompletedNCT00697320
7The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.RecruitingNCT00230165
8Hematopoietic Stem Cell Transplant for High Risk HemoglobinopathiesRecruitingNCT02179359
9A Study to Evaluate Safety and Efficacy of NovoSeven® in Patients With Glanzmann's Thrombasthenia in JapanActive, not recruitingNCT01876745
10Alefacept and Allogeneic Hematopoietic Stem Cell TransplantationTerminatedNCT01319851

Search NIH Clinical Center for Glanzmann Thrombasthenia


Cochrane evidence based reviews: thrombasthenia

Genetic Tests for Glanzmann Thrombasthenia

About this section

Genetic tests related to Glanzmann Thrombasthenia:

id Genetic test Affiliating Genes
1 Glanzmann Thrombasthenia27

Anatomical Context for Glanzmann Thrombasthenia

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MalaCards organs/tissues related to Glanzmann Thrombasthenia:

36
Skin, Bone marrow, Bone, Myeloid, Whole blood, Testes

Publications for Glanzmann Thrombasthenia

About this section

Articles related to Glanzmann Thrombasthenia:

(show top 50)    (show all 203)
idTitleAuthorsYear
1
Should studies on Glanzmann thrombasthenia not be telling us more about cardiovascular disease and other major illnesses? (28395882)
2017
2
Oral Surgery in Patients With Glanzmann Thrombasthenia: A Case Series. (28341450)
2017
3
Alterations of the platelet proteome in type I Glanzmann thrombasthenia caused by different homozygous delG frameshift mutations in ITGA2B. (28078347)
2017
4
Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression. (28232155)
2017
5
Glanzmann thrombasthenia platelets compete with transfused platelets, reducing the haemostatic impact of platelet transfusions. (28466602)
2017
6
No genetic abnormalities identified in I+2IIb and I^3: phenotype overcomes genotype in Glanzmann thrombasthenia. (27808476)
2016
7
Emergency craniotomy in Glanzmann thrombasthenia: Anesthetic management and brief review of literature. (28096593)
2016
8
Cytoskeletal perturbation leads to platelet dysfunction and thrombocytopenia in variant forms of Glanzmann thrombasthenia. (26452979)
2016
9
New Insights Into the Treatment of Glanzmann Thrombasthenia. (26968829)
2016
10
Glanzmann thrombasthenia in a child manifesting after dengue infection. (28050106)
2016
11
Linkage disequilibrium amongst ITGA2B and ITGB3 gene variants in patients with Glanzmann thrombasthenia confirms that most disease-causing mutations are recent. (27469266)
2016
12
Glanzmann thrombasthenia in pregnancy: Optimising maternal and fetal outcomes. (27829878)
2016
13
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
14
Glanzmann Thrombasthenia: A Clinicopathological Profile. (27539755)
2016
15
Identification and Characterization of Glanzmann Thrombasthenia in 2 Closely Related Mixed-breed Dogs. (26764135)
2016
16
Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy. (27696190)
2016
17
The Use of Ankaferd Blood Stopper in a Child With Glanzmann Thrombasthenia With Gingival Bleeding. (26207779)
2015
18
Acute Epidural Hematoma Following Acute Subdural Hematoma Evacuation in a Child With Glanzmann Thrombasthenia. (26421897)
2015
19
Live birth following an intracytoplasmic sperm injection in a patient with Glanzmann thrombasthenia. (26466915)
2015
20
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations. (26096001)
2015
21
I+IIbI^3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia. (25827233)
2015
22
Successful use of recombinant factor VIIa in a patient with acquired Glanzmann thrombasthenia. (25471665)
2015
23
The international, prospective Glanzmann Thrombasthenia Registry: treatment modalities and outcomes of non-surgical bleeding episodes in patients with Glanzmann thrombasthenia. (26001793)
2015
24
Stem Cell Transplant in Severe Glanzmann Thrombasthenia in an Adult Patient. (26134714)
2015
25
Abnormal cytoplasmic extensions associated with active I+IIbI^3 are probably the cause for macrothrombocytopenia in Glanzmann thrombasthenia-like syndrome. (25806962)
2015
26
The international, prospective Glanzmann Thrombasthenia Registry: treatment and outcomes in surgical intervention. (26001792)
2015
27
Successful Treatment of Refractory Gastrointestinal Bleeding by Systemic (Oral) Ankaferd Blood Stopper in a Patient with Glanzmann Thrombasthenia. (26167349)
2015
28
Expanding the Mutation Spectrum Affecting I+IIbI^3 Integrin in Glanzmann Thrombasthenia: Screening of the ITGA2B and ITGB3 Genes in a Large International Cohort. (25728920)
2015
29
Spontaneous hemarthrosis in combined Glanzmann thrombasthenia and type 2N von Willebrand disease. (24418945)
2014
30
Phosphatidylserine exposure, microparticle formation and mitochondrial depolarisation in Glanzmann thrombasthenia platelets. (24477274)
2014
31
Use of allogeneic stem cell transplantation for moderate-severe Glanzmann thrombasthenia. (25548835)
2014
32
Glanzmann thrombasthenia associated with human immunodeficiency virus-positive patient. (24829739)
2014
33
Unusual redo mitral valve replacement for bleeding in Glanzmann thrombasthenia. (24904176)
2014
34
Characterisation of patients with Glanzmann thrombasthenia and identification of 17 novel mutations. (25373348)
2014
35
Diagnosis of Glanzmann thrombasthenia by whole blood impedance analyzer (MEA) vs. light transmission aggregometry. (25537026)
2014
36
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. (24319190)
2013
37
Glanzmann thrombasthenia: state of the art and future directions. (23929305)
2013
38
Demonstration of novel gain-of-function mutations of I+IIbI^3: association with macrothrombocytopenia and glanzmann thrombasthenia-like phenotype. (24498605)
2013
39
Acquired Glanzmann Thrombasthenia Associated With Hodgkin Lymphoma: Rapid Reversal of Functional Platelet Defect With ABVD (Adriamycin/Bleomycin/Vinblastine/Dacarbazine) Chemotherapy. (24342105)
2013
40
Lessons from recurrent deep vein thrombosis in Glanzmann thrombasthenia. (23992524)
2013
41
Molecular Dynamics Analysis of a Novel I^3 Pro189Ser Mutation in a Patient with Glanzmann Thrombasthenia Differentially Affecting I+IIbI^3 and I+vI^3 Expression. (24236036)
2013
42
A novel amino acid substitution of integrin I+IIb in Glanzmann thrombasthenia confirms that the N-terminal region of the receptor plays a role in maintaining I^-propeller structure. (22394243)
2013
43
High-level transgene expression in induced pluripotent stem cell-derived megakaryocytes: correction of Glanzmann thrombasthenia. (24335497)
2013
44
Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. (24357714)
2013
45
Pattern of bleeding and response to therapy in Glanzmann thrombasthenia. (22970800)
2012
46
Successful in vitro fertilization and pregnancy in Glanzmann thrombasthenia. (22672198)
2012
47
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
48
Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment. (23146053)
2012
49
Homozygous point mutations in platelet glycoprotein ITGA2B gene as cause of Glanzmann thrombasthenia in 2 families. (22513797)
2012
50
Natural history of platelet antibody formation against I+IIbI^3 in a French cohort of Glanzmann thrombasthenia patients. (22250950)
2012

Variations for Glanzmann Thrombasthenia

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

70 (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_069917rs77458039
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_069920rs74554539
59ITGB3p.Met144ArgVAR_069921rs77963874
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)SNVPathogenicrs121918444GRCh37Chr 17, 45363730: 45363730
2ITGB3NM_ 000212.2(ITGB3): c.433G> T (p.Asp145Tyr)SNVPathogenicrs121918445GRCh37Chr 17, 45361880: 45361880
3ITGB3NM_ 000212.2(ITGB3): c.718C> T (p.Arg240Trp)SNVPathogenicrs121918446GRCh37Chr 17, 45363729: 45363729
4ITGB3NM_ 000212.2(ITGB3): c.2332T> C (p.Ser778Pro)SNVPathogenicrs121918447GRCh37Chr 17, 45387535: 45387535
5ITGB3NM_ 000212.2(ITGB3): c.176T> C (p.Leu59Pro)SNVrisk factorrs5918GRCh37Chr 17, 45360730: 45360730
6ITGB3ITGB3, IVSiDS, G-T, EXiDELdeletionPathogenic
7ITGB3NM_ 000212.2(ITGB3): c.1199G> A (p.Cys400Tyr)SNVPathogenicrs121918449GRCh37Chr 17, 45368393: 45368393
8ITGB3ITGB3, 11.2-KB DELdeletionPathogenic
9ITGB3NM_ 000212.2(ITGB3): c.2248C> T (p.Arg750Ter)SNVPathogenicrs121918450GRCh37Chr 17, 45384950: 45384950
10ITGB3NM_ 000212.2(ITGB3): c.1924G> T (p.Glu642Ter)SNVPathogenicrs121918451GRCh37Chr 17, 45377854: 45377854
11ITGB3ITGB3, 11-BP DEL, EX12deletionPathogenic
12ITGB3NM_ 000212.2(ITGB3): c.428T> G (p.Leu143Trp)SNVPathogenicrs121918452GRCh37Chr 17, 45361875: 45361875
13ITGB3NM_ 000212.2(ITGB3): c.836A> T (p.Lys279Met)SNVPathogenicrs79775494GRCh37Chr 17, 45364494: 45364494
14ITGB3NM_ 000212.2(ITGB3): c.740G> A (p.Gly247Asp)SNVPathogenicrs79560904GRCh37Chr 17, 45363751: 45363751
15ITGA2BNM_ 000419.4(ITGA2B): c.1787T> C (p.Ile596Thr)SNV, CompoundHeterozygotePathogenicrs76811038GRCh37Chr 17, 42457148: 42457148
16ITGA2BNM_ 000419.4(ITGA2B): c.409-2_ 419delAGGCCTGCGCCCCdeletionPathogenicrs879255508GRCh37Chr 17, 42463074: 42463086
17ITGA2BITGA2B, 4.5-KB DEL, EX2-9deletionPathogenic
18ITGA2BNM_ 000419.4(ITGA2B): c.1750C> T (p.Arg584Ter)SNVPathogenicrs137852906GRCh37Chr 17, 42457372: 42457372
19ITGA2BNM_ 000419.4(ITGA2B): c.2602-3C> GSNVPathogenicrs763330792GRCh37Chr 17, 42453087: 42453087
20ITGA2BNM_ 000419.4(ITGA2B): c.818G> A (p.Gly273Asp)SNVPathogenicrs137852907GRCh37Chr 17, 42461935: 42461935
21ITGA2BNM_ 000419.4(ITGA2B): c.1544+1G> ASNVPathogenicrs879255509GRCh37Chr 17, 42457753: 42457753
22ITGA2BNM_ 000419.4(ITGA2B): c.1073G> A (p.Arg358His)SNVPathogenicrs137852908GRCh37Chr 17, 42460998: 42460998
23ITGA2BNM_ 000419.4(ITGA2B): c.1253G> A (p.Gly418Asp)SNVPathogenicrs137852909GRCh37Chr 17, 42458387: 42458387
24ITGA2BNM_ 000419.4(ITGA2B): c.1366_ 1371delGTAGAC (p.Val456_ Asp457del)deletionPathogenicrs780017389GRCh37Chr 17, 42458269: 42458274
25ITGA2BNM_ 000419.4(ITGA2B): c.1063G> A (p.Glu355Lys)SNVPathogenicrs137852910GRCh37Chr 17, 42461008: 42461008
26ITGA2BNM_ 000419.4(ITGA2B): c.641T> C (p.Leu214Pro)SNVPathogenicrs137852911GRCh37Chr 17, 42462561: 42462561
27ITGA2BNM_ 000419.4(ITGA2B): c.2870C> T (p.Ser957Leu)SNVPathogenicrs80002943GRCh37Chr 17, 42452100: 42452100
28ITGA2BNM_ 000419.4(ITGA2B): c.1878G> C (p.Gln626His)SNVPathogenicrs80277041GRCh37Chr 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 32)
idSuper pathwaysScoreTop Affiliating Genes
110.0ITGA2B, ITGB3
210.0ITGA2B, ITGB3
3
Show member pathways
9.7ITGA2, ITGA2B, ITGB3
49.7ITGA2, ITGA2B, ITGB3
59.7ITGA2, ITGA2B, ITGB3
69.6GP9, ITGA2B, ITGB3
7
Show member pathways
9.6ITGA2, ITGB3, VTN
89.6ITGA2, ITGB3, VTN
99.6F2, F9
10
Show member pathways
9.6ITGA2B, ITGB3, VWF
11
Show member pathways
9.5F3, ITGB3, VWF
129.5GP1BA, SELP, VTN
139.5GP1BA, GP9, VWF
149.4GP1BA, ITGA2, ITGA2B, ITGB3
15
Show member pathways
9.4ITGA2, ITGA2B, ITGB3, VTN
169.4ITGA2, ITGA2B, ITGB3, VTN
179.4ITGA2, ITGA2B, ITGB3, VTN
189.3F2, F2R
199.1GP1BA, GP9, ITGA2, VWF
20
Show member pathways
9.0ITGA2, ITGA2B, ITGB3, VTN, VWF
21
Show member pathways
8.6F2, GP1BA, GP9, ITGA2B, ITGB3, VWF
22
Show member pathways
8.5F2, F2R, ITGA2, ITGA2B, ITGB3
23
Show member pathways
8.5F2, F2R, ITGA2, ITGA2B, ITGB3
248.4CD9, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
25
Show member pathways
8.4GP1BA, GP9, ITGA2, ITGA2B, ITGB3, VTN
26
Show member pathways
8.2F2, F2R, ITGA2, ITGA2B, ITGB3, VTN
278.1F2R, ITGA2, ITGA2B, ITGB3, VTN, VWF
287.8F2R, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
297.7F2, F2R, GP9, ITGA2, ITGA2B, ITGB3
30
Show member pathways
7.2F2, F2R, F3, F8, F9, VTN
31
Show member pathways
6.9F2, F2R, F3, F8, F9, GP1BA
32
Show member pathways
5.0CD9, F2, F2R, F3, F8, F9

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 11)
idNameGO IDScoreTop Affiliating Genes
1alphav-beta3 integrin-vitronectin complexGO:007106210.8ITGB3, VTN
2integrin complexGO:000830510.4ITGA2, ITGA2B, ITGB3
3Golgi lumenGO:000579610.1F2, F9, VTN
4focal adhesionGO:00059259.8CD9, ITGA2, ITGA2B, ITGB3
5external side of plasma membraneGO:00098979.3CD9, F2, ITGA2, ITGA2B, SELP
6platelet alpha granule membraneGO:00310928.9CD9, ITGA2B, ITGB3, SELP
7cell surfaceGO:00099868.5CD9, F2R, F3, GP1BA, ITGA2, ITGA2B
8integral component of plasma membraneGO:00058878.3CD9, F2R, GP1BA, GP9, ITGA2B, ITGB3
9extracellular spaceGO:00056158.2CD9, F2, F3, F8, F9, SELP
10extracellular exosomeGO:00700628.0CD9, F2, F3, F9, GP1BA, ITGA2B
11plasma membraneGO:00058865.7CD9, F2, F2R, F3, F8, F9

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

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1mesodermal cell differentiationGO:004833310.6ITGA2, ITGB3
2fibrinolysisGO:004273010.5F2, GP1BA
3positive regulation of vascular endothelial growth factor receptor signaling pathwayGO:003094910.5ITGB3, VTN
4positive regulation of positive chemotaxisGO:005092710.4F3, ITGA2
5positive regulation of smooth muscle cell migrationGO:001491110.4ITGA2, VTN
6blood coagulation, extrinsic pathwayGO:000759810.4F3, F9
7platelet aggregationGO:007052710.4GP1BA, ITGA2B, ITGB3
8cell adhesion mediated by integrinGO:003362710.3ITGA2, ITGB3, VTN
9integrin-mediated signaling pathwayGO:000722910.3ITGA2, ITGA2B, ITGB3
10peptidyl-glutamic acid carboxylationGO:001718710.2F2, F9
11cell-substrate adhesionGO:003158910.2ITGA2, ITGB3, VWF
12cell-matrix adhesionGO:000716010.1ITGA2, ITGA2B, ITGB3, VTN
13positive regulation of leukocyte migrationGO:000268710.1ITGA2, ITGA2B, SELP
14positive regulation of blood coagulationGO:00301949.9F2, F2R
15positive regulation of smooth muscle contractionGO:00459879.9F2R, ITGA2
16positive regulation of release of sequestered calcium ion into cytosolGO:00512819.9F2, F2R
17signal peptide processingGO:00064659.8F2, F9
18ER to Golgi vesicle-mediated transportGO:00068889.8F2, F8, F9
19extracellular matrix organizationGO:00301989.7ITGA2, ITGA2B, ITGB3, VTN, VWF
20positive regulation of collagen biosynthetic processGO:00329679.6F2, F2R, ITGA2
21regulation of blood coagulationGO:00301939.5F2, F2R, GP1BA
22positive regulation of phosphatidylinositol 3-kinase signalingGO:00140689.4F2, F2R, SELP
23thrombin-activated receptor signaling pathwayGO:00704939.4F2R, GP1BA
24response to woundingGO:00096119.3F2, F2R, VWF
25blood coagulation, intrinsic pathwayGO:00075978.8F2, F8, F9, GP1BA, GP9, VWF
26platelet degranulationGO:00025768.6CD9, F8, ITGA2B, ITGB3, SELP, VWF
27cell adhesionGO:00071558.0CD9, GP1BA, GP9, ITGA2, ITGA2B, ITGB3
28hemostasisGO:00075997.6F2, F2R, F3, F8, F9, GP1BA
29platelet activationGO:00301687.5CD9, F2, F2R, F8, GP1BA, GP9
30blood coagulationGO:00075967.1F2, F2R, F3, F8, F9, GP1BA

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1extracellular matrix bindingGO:005084010.5ITGA2B, ITGB3, VTN
2lipopolysaccharide bindingGO:000153010.5F2, SELP
3protease bindingGO:000202010.3F3, ITGB3, VWF
4collagen bindingGO:000551810.3ITGA2, VTN, VWF
5heparin bindingGO:000820110.2F2, SELP, VTN
6integrin bindingGO:00051789.7CD9, ITGA2, VTN, VWF
7thrombin-activated receptor activityGO:00150579.4F2R, GP1BA
8serine-type endopeptidase activityGO:00042528.9F2, F3, F8, F9
9protein bindingGO:00055155.9CD9, F2, F2R, F3, F8, GP1BA

Sources for Glanzmann Thrombasthenia

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