BSS
MCID: BRN019
MIFTS: 60

Bernard-Soulier Syndrome (BSS)

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bernard-Soulier Syndrome

MalaCards integrated aliases for Bernard-Soulier Syndrome:

Name: Bernard-Soulier Syndrome 58 12 54 26 60 76 38 56 45 15 74
Giant Platelet Syndrome 12 77 54 26 60
Von Willebrand Factor Receptor Deficiency 58 54 26 76
Bss 58 54 26 76
Deficiency of Platelet Glycoprotein 1b 54 26 74
Platelet Glycoprotein Ib Deficiency 58 26 76
Bernard-Soulier Syndrome, Type A1 58 13 6
Bernard-Soulier Syndrome, Type B 58 30 6
Bernard-Soulier Syndrome Type C 76 30 6
Bernard Soulier Syndrome 12 30 6
Bdplt1 58 26 76
Macrothrombocytopenia, Familial Bernard-Soulier Type 54 26
Glycoprotein Ib, Platelet, Deficiency of 58 26
Hemorrhagiparous Thrombocytic Dystrophy 54 60
Bleeding Disorder, Platelet-Type, 1 58 26
Giant Platelet Disease 54 76
Macrothrombocytopenia, Familial, Bernard-Soulier Type 6
Bleeding Disorder, Platelet-Type, 1; Bdplt1 58
Hemorrhagioparous Thrombocytic Dystrophy 26
Hemorrhagic Dystrophic Thrombocytopenia 12
Platelet Glycoprotein 1b, Deficiency of 54
Giant Platelet Disorder, Isolated 58
Bleeding Disorder Platelet-Type 1 76
Bernard-Soulier Syndrome, Type C 58
Bernard-Soulier Syndrome Type A1 76
Bernard-Soulier Syndrome Type B 76
Bernard - Soulier Thrombopathy 12
Thrombopathy, Bernard-Soulier 12
Syndrome, Bernard-Soulier 41
Gpd 76

Characteristics:

Orphanet epidemiological data:

60
bernard-soulier syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
bernard-soulier syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Bernard-Soulier Syndrome

Genetics Home Reference : 26 Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. In affected individuals, platelets are unusually large and fewer in number than usual (a combination known as macrothrombocytopenia). People with Bernard-Soulier syndrome tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or prolonged bleeding following minor injury or surgery or even without trauma (spontaneous bleeding). In some affected individuals, bleeding under the skin causes tiny red or purple spots on the skin called petechiae. Women with Bernard-Soulier syndrome often have heavy or prolonged menstrual periods (menorrhagia).

MalaCards based summary : Bernard-Soulier Syndrome, also known as giant platelet syndrome, is related to von willebrand's disease and thrombasthenia. An important gene associated with Bernard-Soulier Syndrome is GP9 (Glycoprotein IX Platelet), and among its related pathways/superpathways are ECM-receptor interaction and Hematopoietic cell lineage. Affiliated tissues include skin, myeloid and kidney, and related phenotypes are impaired ristocetin-induced platelet aggregation and giant platelets

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has material basis in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 274Disease definitionBernard Soulier syndrome (BSS) is an inheritedplatelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.Visit the Orphanet disease page for more resources.

OMIM : 58 Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor (VWF; 613160) receptor complex, glycoprotein Ib (GP Ib). GP Ib is composed of 4 subunits encoded by 4 separate genes: GP1BA, GP1BB, GP9, and GP5 (173511). (231200)

UniProtKB/Swiss-Prot : 76 Bernard-Soulier syndrome: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

Wikipedia : 77 Giant platelet disorders are rare disorders featuring abnormally large platelets, thrombocytopenia and a... more...

Related Diseases for Bernard-Soulier Syndrome

Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

Diseases related to Bernard-Soulier Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 von willebrand's disease 31.0 F2 F8 GP1BA VWF
2 thrombasthenia 30.7 F2 GP1BA GP9 ITGA2 ITGA2B ITGB3
3 thrombosis 30.4 F2 F8 GP1BA VWF
4 autosomal dominant macrothrombocytopenia 30.2 GP1BA GP1BB ITGA2B ITGB3 MYH9
5 thrombocytopenic purpura, autoimmune 30.2 GP1BA ITGA2B ITGB3 THPO
6 purpura 29.9 F2 GP1BB ITGA2B ITGB3 THPO VWF
7 thrombocytopenia 29.6 GP1BA GP1BB GP9 ITGA2 ITGA2B ITGB3
8 thrombocytopenia due to platelet alloimmunization 29.4 GP9 ITGA2 ITGA2B ITGB3 MYH9 THPO
9 von willebrand disease, type 2 28.9 F8 GP1BA ITGA2 ITGA2B ITGB3 VWF
10 myocardial infarction 28.7 F2 F2R F8 GP1BA ITGA2 ITGA2B
11 glanzmann thrombasthenia 28.7 CD9 F2 F2R F8 GP1BA GP9
12 blood platelet disease 27.7 F2 F2R F8 GP1BA GP1BB GP5
13 bernard-soulier syndrome, type a2, autosomal dominant 13.0
14 medich giant platelet syndrome 12.4
15 barber-say syndrome 11.8
16 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.7
17 blood group, gerbich system 11.5
18 camptocormism 11.5
19 brooke-spiegler syndrome 11.4
20 brown-sequard syndrome 11.3
21 bleeding disorder, platelet-type, 17 11.1
22 bleeding disorder, platelet-type, 21 11.1
23 angiodysplasia 10.6
24 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.4
25 leukemia, acute myeloid 10.4
26 hematopoietic stem cell transplantation 10.4
27 hepatitis 10.4
28 leukemia 10.4
29 myeloid leukemia 10.4
30 bronchitis 10.4
31 myh-9 related disease 10.3 GP1BA MYH9
32 fainting 10.3 F8 VWF
33 qualitative platelet defect 10.3 F2 VWF
34 neutrophil actin dysfunction 10.3
35 cerebral arteritis 10.3 F8 VWF
36 active peptic ulcer disease 10.3 F2 VWF
37 bleeding disorder, platelet-type, 16 10.3 ITGA2B ITGB3
38 sudden sensorineural hearing loss 10.3 F2 ITGB3
39 breast cancer 10.3
40 noonan syndrome 1 10.3
41 urticaria, aquagenic 10.3
42 factor xii deficiency 10.3
43 factor xi deficiency 10.3
44 prekallikrein deficiency 10.3
45 thrombotic thrombocytopenic purpura 10.3
46 urticaria 10.3
47 hepatitis c 10.3
48 gaucher's disease 10.3
49 pharyngitis 10.3
50 hermansky-pudlak syndrome 10.3

Graphical network of the top 20 diseases related to Bernard-Soulier Syndrome:



Diseases related to Bernard-Soulier Syndrome

Symptoms & Phenotypes for Bernard-Soulier Syndrome

Human phenotypes related to Bernard-Soulier Syndrome:

60 33 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired ristocetin-induced platelet aggregation 60 33 obligate (100%) Obligate (100%) HP:0011871
2 giant platelets 60 33 hallmark (90%) Very frequent (99-80%) HP:0001902
3 decreased platelet glycoprotein ib-ix-v 60 33 hallmark (90%) Very frequent (99-80%) HP:0011879
4 macrothrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0040185
5 spontaneous hematomas 60 33 frequent (33%) Frequent (79-30%) HP:0007420
6 petechiae 60 33 frequent (33%) Frequent (79-30%) HP:0000967
7 menorrhagia 60 33 frequent (33%) Frequent (79-30%) HP:0000132
8 spontaneous, recurrent epistaxis 60 33 frequent (33%) Frequent (79-30%) HP:0004406
9 prolonged bleeding after dental extraction 60 33 frequent (33%) Frequent (79-30%) HP:0006298
10 bruising susceptibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0000978
11 gingival bleeding 60 33 occasional (7.5%) Occasional (29-5%) HP:0000225
12 hematemesis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002248
13 prolonged bleeding after surgery 60 33 occasional (7.5%) Occasional (29-5%) HP:0004846
14 macroscopic hematuria 60 33 occasional (7.5%) Occasional (29-5%) HP:0012587
15 abnormal megakaryocyte morphology 33 occasional (7.5%) HP:0012143
16 seizures 60 33 very rare (1%) Very rare (<4-1%) HP:0001250
17 migraine 60 33 very rare (1%) Very rare (<4-1%) HP:0002076
18 asthma 60 33 very rare (1%) Very rare (<4-1%) HP:0002099
19 partially duplicated kidney 60 33 very rare (1%) Very rare (<4-1%) HP:0008738
20 gastrointestinal hemorrhage 60 33 Frequent (79-30%) HP:0002239
21 abnormal bleeding 60 Very frequent (99-80%)
22 thrombocytopenia 33 HP:0001873
23 purpura 33 HP:0000979
24 epistaxis 33 HP:0000421
25 prolonged bleeding time 33 HP:0003010
26 abnormality of cells of the megakaryocyte lineage 60 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

58
Skin Nails Hair Skin:
purpura

Laboratory Abnormalities:
prolonged bleeding time
reduced platelet glycoprotein ib complex
normal platelet aggregation with adp, collagen, epinephrine
absent platelet agglutination in presence of ristocetin

Hematology:
large platelets
congenital bleeding diathesis
mild thrombocytopenia

Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
hemorrhage

Clinical features from OMIM:

231200

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 CD9 F2 F2R F8 GP1BA GP1BB
2 cellular MP:0005384 10.02 CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
3 cardiovascular system MP:0005385 9.97 F2 F2R ITGA2B ITGB3 MYH9 NEU1
4 homeostasis/metabolism MP:0005376 9.77 F2 F2R F8 GP1BA GP1BB GP5
5 digestive/alimentary MP:0005381 9.73 F2 F2R ITGA2B ITGB3 TFAP2A VWF
6 immune system MP:0005387 9.36 CD9 F2 F2R F8 ITGA2B ITGB3

Drugs & Therapeutics for Bernard-Soulier Syndrome

Search Clinical Trials , NIH Clinical Center for Bernard-Soulier Syndrome

Cochrane evidence based reviews: bernard-soulier syndrome

Genetic Tests for Bernard-Soulier Syndrome

Genetic tests related to Bernard-Soulier Syndrome:

# Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type B 30
2 Bernard-Soulier Syndrome Type C 30
3 Bernard Soulier Syndrome 30 GP1BA GP1BB GP9

Anatomical Context for Bernard-Soulier Syndrome

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

42
Skin, Myeloid, Kidney, Breast, Whole Blood, Heart, Bone Marrow

Publications for Bernard-Soulier Syndrome

Articles related to Bernard-Soulier Syndrome:

(show top 50) (show all 261)
# Title Authors Year
1
Does Bernard-Soulier syndrome protect against thrombotic thrombocytopenic purpura? ( 28653757 )
2018
2
Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA. ( 29119711 )
2018
3
Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations? ( 29119855 )
2018
4
A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report. ( 29636940 )
2018
5
How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. ( 30117143 )
2018
6
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. ( 30332551 )
2018
7
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. ( 28131619 )
2017
8
Induced pluripotent stem cells derived from Bernard-Soulier Syndrome patient's peripheral blood cells with a p.Phe55Ser mutation in the GPIX gene. ( 28395735 )
2017
9
A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations. ( 28765788 )
2017
10
Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ( 29043243 )
2017
11
A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. ( 26849716 )
2017
12
Corrigendum to "Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene" [Stem Cell Res. 16/3 (2016) 692-695]. ( 27596517 )
2016
13
Generation of a human induced pluripotent stem cell (iPSC) line from a Bernard-Soulier syndrome patient with the mutation p.Asn45Ser in the GPIX gene. ( 27934591 )
2016
14
Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene. ( 27346198 )
2016
15
Utilization of paravertebral nerve blocks as part of a multimodal analgesic regimen in a patient with Bernard-Soulier syndrome undergoing a Nuss procedure. ( 28913478 )
2016
16
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. ( 25370924 )
2015
17
Primigravida with Bernard-Soulier Syndrome: a case report. ( 25928053 )
2015
18
A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. ( 26044173 )
2015
19
Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation. ( 26133172 )
2015
20
A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis. ( 26226975 )
2015
21
Dental Extractions Management in Bernard-Soulier Syndrome. ( 26267566 )
2015
22
Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein Ibβ in a patient with Bernard-Soulier syndrome. ( 26275786 )
2015
23
Bernard-Soulier syndrome: A challenge for anesthetist in an emergency surgery. ( 26330734 )
2015
24
Complementary effect of fibrinogen and rFVIIa on clotting ex vivo in Bernard-Soulier syndrome and combined use during three deliveries. ( 23909788 )
2014
25
Novel genetic abnormalities in Bernard-Soulier syndrome in India. ( 23995613 )
2014
26
Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein Ibβ mutation. ( 24051937 )
2014
27
Endodontic management of a patient with Bernard-Soulier syndrome. ( 24778520 )
2014
28
Spectrum of the mutations in Bernard-Soulier syndrome. ( 24934643 )
2014
29
Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome. ( 25066812 )
2014
30
Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome: case report. ( 25068867 )
2014
31
Bernard-Soulier Syndrome (BSS) & tuberculosis: A case report. ( 26786628 )
2014
32
Total Hip Arthroplasty in A Young Patient with Bernard-Soulier Syndrome. ( 27298957 )
2014
33
A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation. ( 22372535 )
2013
34
Molecular pathology of Bernard-Soulier syndrome in Indian patients. ( 23402648 )
2013
35
Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα. ( 23414566 )
2013
36
Bernard-Soulier syndrome caused by a hemizygous GPIbβ mutation and 22q11.2 deletion. ( 23566026 )
2013
37
Bernard-Soulier syndrome: an update. ( 23929303 )
2013
38
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. ( 24319190 )
2013
39
Bernard Soulier Syndrome associated with acute myeloid leukemia. ( 24326767 )
2013
40
The Medich giant platelet syndrome: two new cases. ( 22931192 )
2013
41
Successful perioperative management for a breast cancer patient with Bernard-Soulier syndrome. ( 21104349 )
2012
42
Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. ( 22044935 )
2012
43
Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. ( 22343686 )
2012
44
Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. ( 22569901 )
2012
45
Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. ( 21085964 )
2011
46
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. ( 21173099 )
2011
47
Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets in vitro. ( 21322749 )
2011
48
Bernard-Soulier syndrome. ( 21357716 )
2011
49
Molecular basis of Bernard-Soulier syndrome in 27 patients from India. ( 21699652 )
2011
50
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. ( 21800012 )
2011

Variations for Bernard-Soulier Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Bernard-Soulier Syndrome:

76 (show all 14)
# Symbol AA change Variation ID SNP ID
1 GP1BA p.Cys81Arg VAR_005256 rs781541857
2 GP1BA p.Ala172Val VAR_005258 rs121908065
3 GP1BA p.Cys225Ser VAR_005260 rs139463467
4 GP1BA p.Leu73Phe VAR_014206 rs121908063
5 GP1BA p.Leu145Pro VAR_014207 rs771048666
6 GP1BB p.Tyr113Cys VAR_025000 rs121909750
7 GP1BB p.Ala133Pro VAR_025001 rs121909751
8 GP9 p.Asp37Gly VAR_005263 rs121918036
9 GP9 p.Asn61Ser VAR_005264 rs5030764
10 GP9 p.Leu7Pro VAR_024996 rs121918038
11 GP9 p.Cys24Arg VAR_024997 rs28933378
12 GP9 p.Leu56Pro VAR_024998 rs28933377
13 GP9 p.Phe71Ser VAR_024999 rs121918037
14 GP9 p.Cys113Tyr VAR_025008

ClinVar genetic disease variations for Bernard-Soulier Syndrome:

6 (show top 50) (show all 64)
# Gene Variation Type Significance SNP ID Assembly Location
1 GP1BA NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter) single nucleotide variant Pathogenic rs121908061 GRCh37 Chromosome 17, 4836976: 4836976
2 GP1BA NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter) single nucleotide variant Pathogenic rs121908061 GRCh38 Chromosome 17, 4933681: 4933681
3 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh37 Chromosome 17, 4836414: 4836414
4 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh38 Chromosome 17, 4933119: 4933119
5 GP1BA NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter) single nucleotide variant Pathogenic rs267606849 GRCh37 Chromosome 17, 4837519: 4837519
6 GP1BA NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter) single nucleotide variant Pathogenic rs267606849 GRCh38 Chromosome 17, 4934224: 4934224
7 GP9 NM_000174.4(GP9): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic/Likely pathogenic rs5030764 GRCh37 Chromosome 3, 128780764: 128780764
8 GP9 NM_000174.4(GP9): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic/Likely pathogenic rs5030764 GRCh38 Chromosome 3, 129061921: 129061921
9 GP9 NM_000174.4(GP9): c.110A> G (p.Asp37Gly) single nucleotide variant Pathogenic rs121918036 GRCh37 Chromosome 3, 128780692: 128780692
10 GP9 NM_000174.4(GP9): c.110A> G (p.Asp37Gly) single nucleotide variant Pathogenic rs121918036 GRCh38 Chromosome 3, 129061849: 129061849
11 GP9 NM_000174.4(GP9): c.212T> C (p.Phe71Ser) single nucleotide variant Pathogenic rs121918037 GRCh37 Chromosome 3, 128780794: 128780794
12 GP9 NM_000174.4(GP9): c.212T> C (p.Phe71Ser) single nucleotide variant Pathogenic rs121918037 GRCh38 Chromosome 3, 129061951: 129061951
13 GP9 NM_000174.4(GP9): c.167T> C (p.Leu56Pro) single nucleotide variant Pathogenic rs28933377 GRCh37 Chromosome 3, 128780749: 128780749
14 GP9 NM_000174.4(GP9): c.167T> C (p.Leu56Pro) single nucleotide variant Pathogenic rs28933377 GRCh38 Chromosome 3, 129061906: 129061906
15 GP9 NM_000174.4(GP9): c.70T> C (p.Cys24Arg) single nucleotide variant Pathogenic rs28933378 GRCh37 Chromosome 3, 128780652: 128780652
16 GP9 NM_000174.4(GP9): c.70T> C (p.Cys24Arg) single nucleotide variant Pathogenic rs28933378 GRCh38 Chromosome 3, 129061809: 129061809
17 GP9 NM_000174.4(GP9): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs121918038 GRCh37 Chromosome 3, 128780602: 128780602
18 GP9 NM_000174.4(GP9): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs121918038 GRCh38 Chromosome 3, 129061759: 129061759
19 GP1BB NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys) single nucleotide variant Pathogenic rs121909750 GRCh37 Chromosome 22, 19711704: 19711704
20 GP1BB NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys) single nucleotide variant Pathogenic rs121909750 GRCh38 Chromosome 22, 19724181: 19724181
21 GP1BB NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro) single nucleotide variant Pathogenic rs121909751 GRCh37 Chromosome 22, 19711763: 19711763
22 GP1BB NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro) single nucleotide variant Pathogenic rs121909751 GRCh38 Chromosome 22, 19724240: 19724240
23 GP1BB NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter) single nucleotide variant Pathogenic rs121909752 GRCh37 Chromosome 22, 19711503: 19711503
24 GP1BB NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter) single nucleotide variant Pathogenic rs121909752 GRCh38 Chromosome 22, 19723980: 19723980
25 GP1BB NM_000407.4(GP1BB): c.-160C> G single nucleotide variant Pathogenic rs730882059 GRCh38 Chromosome 22, 19723410: 19723410
26 GP1BB NM_000407.4(GP1BB): c.-160C> G single nucleotide variant Pathogenic rs730882059 GRCh37 Chromosome 22, 19710933: 19710933
27 GP1BB NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs587783648 GRCh37 Chromosome 22, 19711706: 19711706
28 GP1BB NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs587783648 GRCh38 Chromosome 22, 19724183: 19724183
29 GP9 NM_000174.4(GP9): c.466G> A (p.Ala156Thr) single nucleotide variant Benign rs3796130 GRCh37 Chromosome 3, 128781048: 128781048
30 GP9 NM_000174.4(GP9): c.466G> A (p.Ala156Thr) single nucleotide variant Benign rs3796130 GRCh38 Chromosome 3, 129062205: 129062205
31 GP9 NM_000174.4(GP9): c.132G> A (p.Thr44=) single nucleotide variant Benign/Likely benign rs6069 GRCh37 Chromosome 3, 128780714: 128780714
32 GP9 NM_000174.4(GP9): c.132G> A (p.Thr44=) single nucleotide variant Benign/Likely benign rs6069 GRCh38 Chromosome 3, 129061871: 129061871
33 GP9 NM_000174.4(GP9): c.*7C> T single nucleotide variant Likely benign rs115005114 GRCh38 Chromosome 3, 129062280: 129062280
34 GP9 NM_000174.4(GP9): c.*7C> T single nucleotide variant Likely benign rs115005114 GRCh37 Chromosome 3, 128781123: 128781123
35 GP9 NM_000174.4(GP9): c.-78C> A single nucleotide variant Uncertain significance rs886057960 GRCh38 Chromosome 3, 129061554: 129061554
36 GP9 NM_000174.4(GP9): c.-78C> A single nucleotide variant Uncertain significance rs886057960 GRCh37 Chromosome 3, 128780397: 128780397
37 GP9 NM_000174.4(GP9): c.-16G> T single nucleotide variant Uncertain significance rs886057963 GRCh38 Chromosome 3, 129061616: 129061616
38 GP9 NM_000174.4(GP9): c.-16G> T single nucleotide variant Uncertain significance rs886057963 GRCh37 Chromosome 3, 128780459: 128780459
39 GP9 NM_000174.4(GP9): c.438G> A (p.Pro146=) single nucleotide variant Uncertain significance rs767278544 GRCh38 Chromosome 3, 129062177: 129062177
40 GP9 NM_000174.4(GP9): c.438G> A (p.Pro146=) single nucleotide variant Uncertain significance rs767278544 GRCh37 Chromosome 3, 128781020: 128781020
41 GP9 NM_000174.4(GP9): c.533G> A (p.Ter178=) single nucleotide variant Uncertain significance rs566144272 GRCh38 Chromosome 3, 129062272: 129062272
42 GP9 NM_000174.4(GP9): c.533G> A (p.Ter178=) single nucleotide variant Uncertain significance rs566144272 GRCh37 Chromosome 3, 128781115: 128781115
43 GP9 NM_000174.4(GP9): c.*38C> T single nucleotide variant Uncertain significance rs774275281 GRCh38 Chromosome 3, 129062311: 129062311
44 GP9 NM_000174.4(GP9): c.*38C> T single nucleotide variant Uncertain significance rs774275281 GRCh37 Chromosome 3, 128781154: 128781154
45 GP9 NM_000174.4(GP9): c.-128C> T single nucleotide variant Uncertain significance rs554290942 GRCh38 Chromosome 3, 129061504: 129061504
46 GP9 NM_000174.4(GP9): c.-128C> T single nucleotide variant Uncertain significance rs554290942 GRCh37 Chromosome 3, 128780347: 128780347
47 GP9 NM_000174.4(GP9): c.-39G> A single nucleotide variant Uncertain significance rs886057961 GRCh38 Chromosome 3, 129061593: 129061593
48 GP9 NM_000174.4(GP9): c.-39G> A single nucleotide variant Uncertain significance rs886057961 GRCh37 Chromosome 3, 128780436: 128780436
49 GP9 NM_000174.4(GP9): c.368C> T (p.Pro123Leu) single nucleotide variant Uncertain significance rs202229101 GRCh38 Chromosome 3, 129062107: 129062107
50 GP9 NM_000174.4(GP9): c.368C> T (p.Pro123Leu) single nucleotide variant Uncertain significance rs202229101 GRCh37 Chromosome 3, 128780950: 128780950

Expression for Bernard-Soulier Syndrome

Search GEO for disease gene expression data for Bernard-Soulier Syndrome.

Pathways for Bernard-Soulier Syndrome

Pathways related to Bernard-Soulier Syndrome according to KEGG:

38
# Name Kegg Source Accession
1 ECM-receptor interaction hsa04512
2 Hematopoietic cell lineage hsa04640

Pathways related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.26 CD9 F2 F2R F8 GP1BA GP1BB
2
Show member pathways
13.25 F2 F2R ITGA2 ITGA2B ITGB3 MYH9
3
Show member pathways
12.82 F2R ITGA2 ITGA2B ITGB3 VWF
4
Show member pathways
12.76 F2 F2R ITGA2 ITGA2B ITGB3
5 12.54 F2 F2R ITGA2 ITGA2B ITGB3 MYH9
6
Show member pathways
12.24 F2 F2R F8 GP1BA GP1BB GP5
7
Show member pathways
12.19 GP1BA GP1BB GP5 GP9 ITGA2 ITGA2B
8
Show member pathways
12.09 F2 F2R ITGA2 ITGA2B ITGB3 MYH9
9 12.02 GP1BA GP5 ITGA2 ITGA2B ITGB3 THPO
10 11.97 F2 F2R F8 VWF
11
Show member pathways
11.91 ITGA2B ITGB3 VWF
12 11.9 CD9 GP1BA GP1BB GP5 GP9 ITGA2
13
Show member pathways
11.86 ITGA2 ITGA2B ITGB3
14 11.8 ITGA2 ITGA2B ITGB3
15
Show member pathways
11.8 F2 GP1BA GP1BB GP5 GP9 ITGA2B
16 11.7 F2R GP1BA GP1BB GP5 GP9 ITGA2
17 11.67 ITGA2 ITGA2B ITGB3
18 11.57 ITGA2 ITGA2B ITGB3 THPO
19 11.49 ITGA2 ITGA2B ITGB3
20 11.48 ITGA2 ITGA2B ITGB3
21 11.39 ITGA2 ITGA2B ITGB3 MYH9
22 11.39 GP9 ITGA2B ITGB3
23 11.07 ITGA2B ITGB3
24 11.03 F2 F2R
25 10.98 F2 F2R GP1BB GP5 GP9 ITGA2
26 10.93 ITGA2B ITGB3
27 10.91 GP1BA GP1BB GP5 GP9 ITGA2 VWF
28 10.85 GP1BA GP1BB GP5 GP9 VWF

GO Terms for Bernard-Soulier Syndrome

Cellular components related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 CD9 F2 GP1BA GP5 ITGA2B ITGB3
2 integral component of plasma membrane GO:0005887 9.95 CD9 F2R GP1BA GP1BB GP5 GP9
3 focal adhesion GO:0005925 9.77 CD9 ITGA2 ITGA2B ITGB3 MYH9
4 plasma membrane GO:0005886 9.77 CD9 F2 F2R F8 GP1BA GP1BB
5 external side of plasma membrane GO:0009897 9.73 CD9 F2 ITGA2 ITGA2B
6 cell surface GO:0009986 9.73 CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
7 integrin complex GO:0008305 9.33 ITGA2 ITGA2B ITGB3
8 platelet alpha granule membrane GO:0031092 8.8 CD9 ITGA2B ITGB3

Biological processes related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.96 F2 F2R F8 GP1BA GP1BB GP5
2 cell surface receptor signaling pathway GO:0007166 9.85 CD9 F2 GP1BA GP1BB
3 platelet activation GO:0030168 9.85 CD9 F2 F2R F8 GP1BA GP1BB
4 extracellular matrix organization GO:0030198 9.81 ITGA2 ITGA2B ITGB3 VWF
5 integrin-mediated signaling pathway GO:0007229 9.78 ITGA2 ITGA2B ITGB3 MYH9
6 platelet degranulation GO:0002576 9.77 CD9 F8 ITGA2B ITGB3 VWF
7 cell-matrix adhesion GO:0007160 9.73 ITGA2 ITGA2B ITGB3
8 platelet aggregation GO:0070527 9.71 GP1BA ITGA2B ITGB3 MYH9
9 response to wounding GO:0009611 9.7 F2 F2R VWF
10 positive regulation of collagen biosynthetic process GO:0032967 9.67 F2 F2R ITGA2
11 cell-substrate adhesion GO:0031589 9.63 ITGA2 ITGB3 VWF
12 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.62 F2 F2R
13 positive regulation of JAK-STAT cascade GO:0046427 9.61 F2 F2R
14 cell adhesion mediated by integrin GO:0033627 9.61 ITGA2 ITGB3
15 regulation of blood coagulation GO:0030193 9.61 F2 F2R GP1BA
16 fibrinolysis GO:0042730 9.6 F2 GP1BA
17 positive regulation of smooth muscle contraction GO:0045987 9.59 F2R ITGA2
18 mesodermal cell differentiation GO:0048333 9.58 ITGA2 ITGB3
19 positive regulation of blood coagulation GO:0030194 9.58 F2 F2R
20 positive regulation of leukocyte migration GO:0002687 9.57 ITGA2 ITGA2B
21 hemostasis GO:0007599 9.56 F2 F2R F8 GP1BA GP1BB GP5
22 thrombin-activated receptor signaling pathway GO:0070493 9.54 F2R GP1BA
23 blood coagulation, intrinsic pathway GO:0007597 9.17 F2 F8 GP1BA GP1BB GP5 GP9
24 cell adhesion GO:0007155 10.02 CD9 GP1BA GP1BB GP5 GP9 ITGA2

Molecular functions related to Bernard-Soulier Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thrombin-activated receptor activity GO:0015057 9.26 F2R GP1BA
2 integrin binding GO:0005178 9.02 CD9 ITGA2 ITGB3 MYH9 VWF
3 fibrinogen binding GO:0070051 8.96 ITGA2B ITGB3
4 protein binding GO:0005515 10.03 CD9 F2 F2R F8 GP1BA GP1BB

Sources for Bernard-Soulier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....