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BSS
MCID: BRN019
MIFTS: 61

Bernard-Soulier Syndrome (BSS)

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Bernard-Soulier Syndrome

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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
Giant Platelets 30
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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2217
OMIM 58 231200
KEGG 38 H00224
MeSH 45 D001606
NCIt 51 C84595
SNOMED-CT 69 54569005
MESH via Orphanet 46 D001606
ICD10 via Orphanet 35 D69.1
UMLS via Orphanet 75 C0005129
Orphanet 60 ORPHA274
Sources

Summaries for Bernard-Soulier Syndrome

About this section
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, kidney and myeloid, and related phenotypes are abnormal bleeding and menorrhagia

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...

Sources

Related Diseases for Bernard-Soulier Syndrome

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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 107)
# 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 velocardiofacial syndrome 29.8 GP1BA GP1BB GP9
8 thrombocytopenia 29.5 GP1BA GP1BB GP9 ITGA2 ITGA2B ITGB3
9 thrombocytopenia due to platelet alloimmunization 29.4 GP9 ITGA2 ITGA2B ITGB3 MYH9 THPO
10 myocardial infarction 28.7 F2 F2R F8 GP1BA ITGA2 ITGA2B
11 glanzmann thrombasthenia 28.6 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 12.9
14 medich giant platelet syndrome 12.3
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 11.4
19 brooke-spiegler syndrome 11.3
20 brown-sequard syndrome 11.2
21 platelet glycoprotein iv deficiency 11.2
22 thrombocytopenia, anemia, and myelofibrosis 11.2
23 bleeding disorder, platelet-type, 17 11.1
24 bleeding disorder, platelet-type, 21 11.1
25 angiodysplasia 10.5
26 leukemia, acute myeloid 10.4
27 hematopoietic stem cell transplantation 10.4
28 hepatitis 10.4
29 leukemia 10.4
30 myeloid leukemia 10.4
31 glyceraldehyde-3-phosphate dehydrogenase deficiency 10.4
32 myh-9 related disease 10.3 GP1BA MYH9
33 bronchitis 10.3
34 fainting 10.3 F8 VWF
35 cerebral arteritis 10.3 F8 VWF
36 qualitative platelet defect 10.3 F2 VWF
37 neutrophil actin dysfunction 10.3
38 active peptic ulcer disease 10.3 F2 VWF
39 bleeding disorder, platelet-type, 16 10.3 ITGA2B ITGB3
40 sudden sensorineural hearing loss 10.3 F2 ITGB3
41 breast cancer 10.2
42 noonan syndrome 1 10.2
43 urticaria, aquagenic 10.2
44 factor xii deficiency 10.2
45 factor xi deficiency 10.2
46 prekallikrein deficiency 10.2
47 thrombotic thrombocytopenic purpura 10.2
48 urticaria 10.2
49 hepatitis c 10.2
50 gaucher's disease 10.2

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



Diseases related to Bernard-Soulier Syndrome
Sources

Symptoms & Phenotypes for Bernard-Soulier Syndrome

About this section

Human phenotypes related to Bernard-Soulier Syndrome:

60 33 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormal bleeding 60 33 Very frequent (99-80%) HP:0001892
2 menorrhagia 60 33 Frequent (79-30%) HP:0000132
3 seizures 60 Very rare (<4-1%)
4 thrombocytopenia 33 HP:0001873
5 migraine 60 Very rare (<4-1%)
6 spontaneous hematomas 60 Frequent (79-30%)
7 purpura 33 HP:0000979
8 asthma 60 Very rare (<4-1%)
9 gastrointestinal hemorrhage 60 Frequent (79-30%)
10 epistaxis 33 HP:0000421
11 bruising susceptibility 60 Occasional (29-5%)
12 gingival bleeding 60 Occasional (29-5%)
13 petechiae 60 Frequent (79-30%)
14 hematemesis 60 Occasional (29-5%)
15 prolonged bleeding time 33 HP:0003010
16 impaired ristocetin-induced platelet aggregation 60 Obligate (100%)
17 giant platelets 60 Very frequent (99-80%)
18 decreased platelet glycoprotein ib-ix-v 60 Very frequent (99-80%)
19 macrothrombocytopenia 60 Very frequent (99-80%)
20 spontaneous, recurrent epistaxis 60 Frequent (79-30%)
21 prolonged bleeding after dental extraction 60 Frequent (79-30%)
22 prolonged bleeding after surgery 60 Occasional (29-5%)
23 abnormality of cells of the megakaryocyte lineage 60 Occasional (29-5%)
24 macroscopic hematuria 60 Occasional (29-5%)
25 partially duplicated kidney 60 Very rare (<4-1%)
26 abnormality of abdomen morphology 33 HP:0001438
27 increased mean platelet volume 33 HP:0011877

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 9.96 CD9 F2R GP1BA ITGA2 ITGA2B ITGB3
3 cardiovascular system MP:0005385 9.92 F2 F2R ITGA2B ITGB3 JUN MYH9
4 homeostasis/metabolism MP:0005376 9.8 F2 F2R F8 GP1BA GP1BB GP5
5 immune system MP:0005387 9.36 CD9 F2 F2R F8 ITGA2B ITGB3
Sources

Drugs & Therapeutics for Bernard-Soulier Syndrome

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

Cochrane evidence based reviews: bernard-soulier syndrome

Sources

Genetic Tests for Bernard-Soulier Syndrome

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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
4 Giant Platelets 30
Sources

Anatomical Context for Bernard-Soulier Syndrome

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MalaCards organs/tissues related to Bernard-Soulier Syndrome:

42
Skin, Kidney, Myeloid, Whole Blood, Heart, Breast
Sources

Publications for Bernard-Soulier Syndrome

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Articles related to Bernard-Soulier Syndrome:

(show top 50) (show all 258)
# Title Authors Year
1
A point mutation in Phe71Ser in glycoprotein IX as a genetic cause of Bernard-Soulier syndrome: case report. ( 29636940 )
2018
2
Bernard-Soulier syndrome in Pakistan: Biochemical and molecular analyses leading to identification of a novel mutation in GP1BA. ( 29119711 )
2018
3
How we treat the platelet glycoprotein defects; Glanzmann thrombasthenia and Bernard Soulier syndrome in children and adults. ( 30117143 )
2018
4
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. ( 30332551 )
2018
5
A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations. ( 28765788 )
2017
6
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. ( 28131619 )
2017
7
Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations? ( 29119855 )
2017
8
A novel mutation in GP1BA gene leads to mono-allelic Bernard Soulier syndrome form of macrothrombocytopenia. ( 26849716 )
2017
9
Does Bernard-Soulier syndrome protect against thrombotic thrombocytopenic purpura? ( 28653757 )
2017
10
Combined occurrence of Bernard-Soulier syndrome and prekallikrein deficiency. ( 29043243 )
2017
11
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
12
Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene. ( 27346198 )
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
Corrigendum to &amp;quot;Generation of induced pluripotent stem cells (iPSCs) from a Bernard-Soulier syndrome patient carrying a W71R mutation in the GPIX gene&amp;quot; [Stem Cell Res. 16/3 (2016) 692-695]. ( 27596517 )
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
Primigravida with Bernard-Soulier Syndrome: a case report. ( 25928053 )
2015
17
Dental Extractions Management in Bernard-Soulier Syndrome. ( 26267566 )
2015
18
Bernard-Soulier syndrome: A challenge for anesthetist in an emergency surgery. ( 26330734 )
2015
19
A diagnostic dilemma: variant Bernard-Soulier syndrome, a difficult clinical and genetic diagnosis. ( 26226975 )
2015
20
Low levels of CD9 coincidental with a novel nonsense mutation in glycoprotein IbI^ in a patient with Bernard-Soulier syndrome. ( 26275786 )
2015
21
Platelet functional alterations in a Bernard-Soulier syndrome patient with filamin A mutation. ( 26133172 )
2015
22
A Novel Homozygous c.800C&amp;gt;G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome. ( 26044173 )
2015
23
Spectrum of the mutations in Bernard-Soulier syndrome. ( 24934643 )
2014
24
Bernard-Soulier Syndrome (BSS) &amp;amp; tuberculosis: A case report. ( 26786628 )
2014
25
Bernard-Soulier syndrome due to compound heterozygosity for a novel glycoprotein IbI^ mutation. ( 24051937 )
2014
26
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome - a case control study. ( 25370924 )
2014
27
Non-myeloablative conditioning with busulfan before hematopoietic stem cell transplantation leads to phenotypic correction of murine Bernard-Soulier syndrome. ( 25066812 )
2014
28
Endodontic management of a patient with Bernard-Soulier syndrome. ( 24778520 )
2014
29
Perioperative management of tonsilloadenoidectomy and circumcision of a patient with Bernard-Soulier syndrome: case report. ( 25068867 )
2014
30
Total Hip Arthroplasty in A Young Patient with Bernard-Soulier Syndrome. ( 27298957 )
2014
31
Bernard Soulier Syndrome associated with acute myeloid leukemia. ( 24326767 )
2013
32
Bernard-Soulier syndrome: an update. ( 23929303 )
2013
33
Molecular pathology of Bernard-Soulier syndrome in Indian patients. ( 23402648 )
2013
34
Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbI+. ( 23414566 )
2013
35
Novel genetic abnormalities in Bernard-Soulier syndrome in India. ( 23995613 )
2013
36
A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation. ( 22372535 )
2013
37
Bernard-Soulier syndrome caused by a hemizygous GPIbI^ mutation and 22q11.2 deletion. ( 23566026 )
2013
38
Inherited platelet disorders including Glanzmann thrombasthenia and Bernard-Soulier syndrome. ( 24319190 )
2013
39
Complementary effect of fibrinogen and rFVIIa on clotting ex vivo in Bernard-Soulier syndrome and combined use during three deliveries. ( 23909788 )
2013
40
The Medich giant platelet syndrome: two new cases. ( 22931192 )
2013
41
Myocardial infarction in two cousins heterozygous for ASN41HIS autosomal dominant variant of Bernard-Soulier syndrome. ( 22569901 )
2012
42
Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. ( 22044935 )
2012
43
Novel mutation in the glycoprotein IbI^ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity. ( 22343686 )
2012
44
Successful perioperative management for a breast cancer patient with Bernard-Soulier syndrome. ( 21104349 )
2012
45
Quaternary organization of GPIb-IX complex and insights into Bernard- Soulier syndrome revealed by the structures of GPIbbeta and a GPIbbeta/GPIX chimera. ( 21908432 )
2011
46
Intractable gastrointestinal bleeding from angiodysplasia in a patient with Bernard-Soulier syndrome. ( 21085964 )
2011
47
A A386G biallelic GPIbI+ gene mutation with anomalous behavior: a new mechanism suggested for Bernard-Soulier syndrome pathogenesis. ( 21993687 )
2011
48
Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets inA vitro. ( 21322749 )
2011
49
Bernard-Soulier syndrome. ( 21357716 )
2011
50
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. ( 21173099 )
2011
Sources

Variations for Bernard-Soulier Syndrome

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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 GP1BB NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs587783648 GRCh37 Chromosome 22, 19711706: 19711706
2 GP1BB NM_000407.4(GP1BB): c.340C> T (p.Arg114Cys) single nucleotide variant Likely pathogenic rs587783648 GRCh38 Chromosome 22, 19724183: 19724183
3 GP9 NM_000174.4(GP9): c.466G> A (p.Ala156Thr) single nucleotide variant Benign rs3796130 GRCh37 Chromosome 3, 128781048: 128781048
4 GP9 NM_000174.4(GP9): c.466G> A (p.Ala156Thr) single nucleotide variant Benign rs3796130 GRCh38 Chromosome 3, 129062205: 129062205
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.1077G> A (p.Trp359Ter) single nucleotide variant Pathogenic rs121908061 GRCh37 Chromosome 17, 4836976: 4836976
7 GP1BA NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter) single nucleotide variant Pathogenic rs121908061 GRCh38 Chromosome 17, 4933681: 4933681
8 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh37 Chromosome 17, 4836414: 4836414
9 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh38 Chromosome 17, 4933119: 4933119
10 GP1BA NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter) single nucleotide variant Pathogenic rs267606849 GRCh38 Chromosome 17, 4934224: 4934224
11 GP9 NM_000174.4(GP9): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic rs5030764 GRCh37 Chromosome 3, 128780764: 128780764
12 GP9 NM_000174.4(GP9): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic rs5030764 GRCh38 Chromosome 3, 129061921: 129061921
13 GP9 NM_000174.4(GP9): c.110A> G (p.Asp37Gly) single nucleotide variant Pathogenic rs121918036 GRCh37 Chromosome 3, 128780692: 128780692
14 GP9 NM_000174.4(GP9): c.110A> G (p.Asp37Gly) single nucleotide variant Pathogenic rs121918036 GRCh38 Chromosome 3, 129061849: 129061849
15 GP9 NM_000174.4(GP9): c.212T> C (p.Phe71Ser) single nucleotide variant Pathogenic rs121918037 GRCh37 Chromosome 3, 128780794: 128780794
16 GP9 NM_000174.4(GP9): c.212T> C (p.Phe71Ser) single nucleotide variant Pathogenic rs121918037 GRCh38 Chromosome 3, 129061951: 129061951
17 GP9 NM_000174.4(GP9): c.167T> C (p.Leu56Pro) single nucleotide variant Pathogenic rs28933377 GRCh37 Chromosome 3, 128780749: 128780749
18 GP9 NM_000174.4(GP9): c.167T> C (p.Leu56Pro) single nucleotide variant Pathogenic rs28933377 GRCh38 Chromosome 3, 129061906: 129061906
19 GP9 NM_000174.4(GP9): c.70T> C (p.Cys24Arg) single nucleotide variant Pathogenic rs28933378 GRCh37 Chromosome 3, 128780652: 128780652
20 GP9 NM_000174.4(GP9): c.70T> C (p.Cys24Arg) single nucleotide variant Pathogenic rs28933378 GRCh38 Chromosome 3, 129061809: 129061809
21 GP9 NM_000174.4(GP9): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs121918038 GRCh37 Chromosome 3, 128780602: 128780602
22 GP9 NM_000174.4(GP9): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs121918038 GRCh38 Chromosome 3, 129061759: 129061759
23 GP1BB NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys) single nucleotide variant Pathogenic rs121909750 GRCh37 Chromosome 22, 19711704: 19711704
24 GP1BB NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys) single nucleotide variant Pathogenic rs121909750 GRCh38 Chromosome 22, 19724181: 19724181
25 GP1BB NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro) single nucleotide variant Pathogenic rs121909751 GRCh37 Chromosome 22, 19711763: 19711763
26 GP1BB NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro) single nucleotide variant Pathogenic rs121909751 GRCh38 Chromosome 22, 19724240: 19724240
27 GP1BB NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter) single nucleotide variant Pathogenic rs121909752 GRCh37 Chromosome 22, 19711503: 19711503
28 GP1BB NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter) single nucleotide variant Pathogenic rs121909752 GRCh38 Chromosome 22, 19723980: 19723980
29 GP1BB NM_000407.4(GP1BB): c.-160C> G single nucleotide variant Pathogenic rs730882059 GRCh38 Chromosome 22, 19723410: 19723410
30 GP1BB NM_000407.4(GP1BB): c.-160C> G single nucleotide variant Pathogenic rs730882059 GRCh37 Chromosome 22, 19710933: 19710933
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
Sources

Expression for Bernard-Soulier Syndrome

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

Pathways for Bernard-Soulier Syndrome

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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 39)
# Super pathways Score Top Affiliating Genes
1
TGF-Beta Pathway 65
Show member pathways
 13.43 F2 F2R ITGA2 ITGA2B ITGB3 JUN
2
Integrin Pathway 65
Show member pathways
 13.28 F2 F2R ITGA2 ITGA2B ITGB3 JUN
3
Response to elevated platelet cytosolic Ca2+ 67
Show member pathways
 13.26 CD9 F2 F2R F8 GP1BA GP1BB
4
Actin Nucleation by ARP-WASP Complex 65
Show member pathways
 12.88 ITGA2 ITGA2B ITGB3 JUN MYH9
5
PI3K-Akt signaling pathway 38
Show member pathways
 12.88 F2R ITGA2 ITGA2B ITGB3 VWF
6
Sertoli-Sertoli Cell Junction Dynamics 65
Show member pathways
 12.81 ITGA2 ITGA2B ITGB3 JUN MYH9
7
Development Angiotensin activation of ERK 23
Show member pathways
 12.8 F2 F2R ITGA2 ITGA2B ITGB3 JUN
8
Focal Adhesion 1 38
Show member pathways
 12.79 ITGA2 ITGA2B ITGB3 JUN VWF
9
Regulation of actin cytoskeleton 38 1
12.55 F2 F2R ITGA2 ITGA2B ITGB3 MYH9
10
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 23
Show member pathways
 12.53 ITGA2 ITGB3 JUN MYH9
11
G-protein signaling RAC1 in cellular process 23
Show member pathways
 12.29 ITGA2 ITGA2B ITGB3 JUN THPO
12
Formation of Fibrin Clot (Clotting Cascade) 67
Show member pathways
 12.24 F2 F2R F8 GP1BA GP1BB GP5
13
ECM-receptor interaction 38
Show member pathways
 12.18 GP1BA GP1BB GP5 GP9 ITGA2 ITGA2B
14
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 23
Show member pathways
 12.14 F2 F2R ITGA2 ITGA2B ITGB3 JUN
15
Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers 66
12.02 GP1BA GP5 ITGA2 ITGA2B ITGB3 THPO
16
Fluid shear stress and atherosclerosis 38
11.99 ITGA2B ITGB3 JUN
17
Oncogenic MAPK signaling 67
Show member pathways
 11.97 ITGA2B ITGB3 VWF
18
Complement and coagulation cascades 38 1
11.97 F2 F2R F8 VWF
19
TGF-beta Signaling Pathway (WikiPathways) 1
11.96 ITGA2 ITGB3 JUN
20
L1CAM interactions 67
Show member pathways
 11.93 ITGA2 ITGA2B ITGB3
21
Hematopoietic cell lineage 38
11.9 CD9 GP1BA GP1BB GP5 GP9 ITGA2
22
Reelin Pathway (Cajal-Retzius cells) 65
11.84 ITGA2 ITGA2B ITGB3 JUN
23
Integrin alphaIIb beta3 signaling 67
Show member pathways
 11.8 F2 GP1BA GP1BB GP5 GP9 ITGA2B
24
Phagocytosis of Microbes 65
11.72 ITGA2 ITGA2B ITGB3
25
Platelet activation 38
11.7 F2R GP1BA GP1BB GP5 GP9 ITGA2
26
G-protein signaling_RhoA regulation pathway 23
11.63 ITGA2 ITGA2B ITGB3 THPO
27
G-protein signaling_Regulation of RAC1 activity 23
11.53 ITGA2 ITGA2B ITGB3 JUN
28
ECM proteoglycans 67
11.52 ITGA2 ITGA2B ITGB3
29
Cytoskeleton remodeling_RalA regulation pathway 23
11.42 ITGA2 ITGA2B ITGB3 MYH9
30
Hematopoietic Stem Cell Differentiation 1
11.42 GP9 ITGA2B ITGB3
31
G-protein signaling_Cross-talk between Ras-family GTPases 23
11.29 ITGA2 ITGA2B ITGB3 JUN
32
Ephrin B reverse signaling 1
11.11 ITGA2B ITGB3
33
IL1 and megakaryocytes in obesity 1
11.07 F2 F2R
34
Signal transduction by L1 67
10.99 ITGA2B ITGB3
35
Platelet Aggregation Inhibitor Pathway, Pharmacodynamics 62
10.98 F2 F2R GP1BB GP5 GP9 ITGA2
36
G-protein signaling_Rap2B regulation pathway 23
10.91 ITGA2 ITGA2B ITGB3 JUN THPO
37
Platelet Adhesion to exposed collagen 67
10.91 GP1BA GP1BB GP5 GP9 ITGA2 VWF
38
GP1b-IX-V activation signalling 67
10.85 GP1BA GP1BB GP5 GP9 VWF
39
MFAP5-mediated ovarian cancer cell motility and invasiveness 1
10.71 ITGB3 JUN
Sources

GO Terms for Bernard-Soulier Syndrome

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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 JAK-STAT cascade GO:0046427 9.62 F2 F2R
13 cell adhesion mediated by integrin GO:0033627 9.61 ITGA2 ITGB3
14 fibrinolysis GO:0042730 9.61 F2 GP1BA
15 regulation of blood coagulation GO:0030193 9.61 F2 F2R GP1BA
16 positive regulation of smooth muscle contraction GO:0045987 9.6 F2R ITGA2
17 monocyte differentiation GO:0030224 9.59 JUN MYH9
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

Sources for Bernard-Soulier Syndrome

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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