BSS
MCID: BRN019
MIFTS: 61

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 57 12 20 43 58 72 36 54 44 15 70
Giant Platelet Syndrome 12 73 20 43 58
Von Willebrand Factor Receptor Deficiency 57 20 43 72
Bernard-Soulier Syndrome, Type A1 57 29 13 6
Bss 57 20 43 72
Deficiency of Platelet Glycoprotein 1b 20 43 70
Platelet Glycoprotein Ib Deficiency 57 43 72
Bernard-Soulier Syndrome, Type B 57 29 6
Bernard-Soulier Syndrome Type C 72 29 6
Bernard Soulier Syndrome 12 29 6
Bdplt1 57 43 72
Macrothrombocytopenia, Familial Bernard-Soulier Type 20 43
Glycoprotein Ib, Platelet, Deficiency of 57 43
Hemorrhagiparous Thrombocytic Dystrophy 20 58
Bleeding Disorder, Platelet-Type, 1 57 43
Giant Platelet Disorder, Isolated 57 29
Giant Platelet Disease 20 72
Macrothrombocytopenia, Familial, Bernard-Soulier Type 6
Bleeding Disorder, Platelet-Type, 1; Bdplt1 57
Hemorrhagioparous Thrombocytic Dystrophy 43
Hemorrhagic Dystrophic Thrombocytopenia 12
Platelet Glycoprotein 1b, Deficiency of 20
Bleeding Disorder Platelet-Type 1 72
Bernard-Soulier Syndrome, Type C 57
Bernard-Soulier Syndrome Type A1 72
Bernard-Soulier Syndrome Type B 72
Bernard - Soulier Thrombopathy 12
Thrombopathy, Bernard-Soulier 12
Syndrome, Bernard-Soulier 39
Gpd 72

Characteristics:

Orphanet epidemiological data:

58
bernard-soulier syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
bernard-soulier syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:2217
OMIM® 57 231200
OMIM Phenotypic Series 57 PS231200
KEGG 36 H00224
MeSH 44 D001606
NCIt 50 C84595
SNOMED-CT 67 54569005
MESH via Orphanet 45 D001606
ICD10 via Orphanet 33 D69.1
UMLS via Orphanet 71 C0005129
Orphanet 58 ORPHA274
UMLS 70 C0005129 C2713537

Summaries for Bernard-Soulier Syndrome

MedlinePlus Genetics : 43 Bernard-Soulier syndrome is a bleeding disorder associated with abnormal platelets, which are blood cells 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). Rarely, 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 bleeding (menorrhagia).

MalaCards based summary : Bernard-Soulier Syndrome, also known as giant platelet syndrome, is related to thrombasthenia and purpura. 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 kidney, myeloid and whole blood, and related phenotypes are impaired ristocetin-induced platelet aggregation and macrothrombocytopenia

Disease Ontology : 12 A 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.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 274 Definition Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

OMIM® : 57 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) (Updated 20-May-2021)

KEGG : 36 Bernard-Soulier syndrome is a bleeding disorder caused by a defect in or deficiency of the platelet membrane von Willebrand factor receptor which is composed of 4 proteins, GP1BA, GP1BB, GP9 and GP5. The clinical feature is characterized by variable thrombocytopenia and large defective platelets.

UniProtKB/Swiss-Prot : 72 Bernard-Soulier syndrome: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

Wikipedia : 73 Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally... 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 184)
# Related Disease Score Top Affiliating Genes
1 thrombasthenia 31.5 ITGB3 ITGA2B ITGA2 GP9 GP1BA F2
2 purpura 31.2 VWF THPO ITGB3 ITGA2B GP1BA F2
3 von willebrand's disease 31.1 VWF ITGA2B GP9 GP1BA F9 F8
4 thrombocytopenic purpura, autoimmune 31.0 THPO ITGB3 ITGA2B GP1BA F8
5 thrombocytopenia due to platelet alloimmunization 30.9 THPO ITGB3 ITGA2B ITGA2 GP9 GP5
6 velocardiofacial syndrome 30.8 PRODH GP9 GP1BB GP1BA
7 afibrinogenemia, congenital 30.8 VWF F8 F2
8 autosomal dominant macrothrombocytopenia 30.8 MYH9 ITGB3 ITGA2B GP1BB GP1BA
9 pseudo-von willebrand disease 30.7 VWF GP9 GP1BB GP1BA
10 gray platelet syndrome 30.6 VWF MYH9 ITGA2B GP9 GP5
11 factor xi deficiency 30.6 VWF F9 F8 F2
12 glanzmann thrombasthenia 1 30.5 VWF ITGB3 ITGA2B ITGA2 GP9 GP1BA
13 thrombocytopenia 30.5 VWF THPO SEPT5-GP1BB MYH9 ITGB3 ITGA2B
14 von willebrand disease, type 2 30.4 VWF GP1BA F8
15 blood platelet disease 30.2 VWF THPO PRODH MYH9 ITGB3 ITGA2B
16 hemorrhagic disease 30.0 VWF THPO MYH9 ITGB3 ITGA2B ITGA2
17 myocardial infarction 29.9 VWF ITGB3 ITGA2B ITGA2 GP1BA F9
18 bernard-soulier syndrome, type a2, autosomal dominant 12.0
19 barber-say syndrome 11.4
20 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.3
21 camptocormism 11.3
22 blood group, gerbich system 11.3
23 brooke-spiegler syndrome 11.3
24 medich giant platelet syndrome 11.2
25 brown-sequard syndrome 11.1
26 rare hemorrhagic disorder 10.6
27 rapidly involuting congenital hemangioma 10.5
28 autosomal recessive disease 10.5
29 angiodysplasia 10.5
30 acrokeratoderma, hereditary papulotranslucent 10.4 GP9 GP1BB GP1BA
31 fainting 10.4 VWF F8
32 ventriculomegaly with cystic kidney disease 10.4 GP9 GP5 GP1BA
33 papillary adenofibroma 10.4 VWF F2
34 dieulafoy lesion 10.4 VWF F2
35 synovial angioma 10.4 F8 F2
36 aspirin resistance 10.4 ITGB3 F2
37 arteritic anterior ischemic optic neuropathy 10.4 ITGB3 GP1BA F2
38 sudden sensorineural hearing loss 10.4 ITGB3 F2
39 von willebrand disease, type 3 10.4 VWF GP1BA F8
40 pediatric angiosarcoma 10.4 VWF F8
41 von willebrand disease, type 1 10.4 VWF GP1BA F8
42 basilar artery occlusion 10.4 ITGA2B F2
43 breast hemangioma 10.4 VWF F8
44 qualitative platelet defect 10.4 VWF THPO F2
45 thrombophlebitis 10.4 VWF F8 F2
46 acquired hemophilia 10.4 F9 F8
47 central retinal vein occlusion 10.4 VWF F8 F2
48 factor xiii deficiency 10.4 VWF F8 F2
49 acquired hemophilia a 10.4 F9 F8
50 thrombophilia due to activated protein c resistance 10.4 VWF F8 F2

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:

58 31 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 impaired ristocetin-induced platelet aggregation 58 31 obligate (100%) Obligate (100%) HP:0011871
2 macrothrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0040185
3 giant platelets 58 31 hallmark (90%) Very frequent (99-80%) HP:0001902
4 decreased platelet glycoprotein ib-ix-v 58 31 hallmark (90%) Very frequent (99-80%) HP:0011879
5 petechiae 58 31 frequent (33%) Frequent (79-30%) HP:0000967
6 spontaneous hematomas 58 31 frequent (33%) Frequent (79-30%) HP:0007420
7 menorrhagia 58 31 frequent (33%) Frequent (79-30%) HP:0000132
8 prolonged bleeding after dental extraction 58 31 frequent (33%) Frequent (79-30%) HP:0006298
9 spontaneous, recurrent epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0004406
10 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
11 bruising susceptibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000978
12 hematemesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002248
13 prolonged bleeding after surgery 58 31 occasional (7.5%) Occasional (29-5%) HP:0004846
14 macroscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0012587
15 abnormal megakaryocyte morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0012143
16 asthma 58 31 very rare (1%) Very rare (<4-1%) HP:0002099
17 migraine 58 31 very rare (1%) Very rare (<4-1%) HP:0002076
18 partially duplicated kidney 58 31 very rare (1%) Very rare (<4-1%) HP:0008738
19 seizure 31 very rare (1%) HP:0001250
20 gastrointestinal hemorrhage 58 31 Frequent (79-30%) HP:0002239
21 seizures 58 Very rare (<4-1%)
22 thrombocytopenia 31 HP:0001873
23 purpura 31 HP:0000979
24 epistaxis 31 HP:0000421
25 prolonged bleeding time 31 HP:0003010
26 abnormal bleeding 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.22 CD9 F2R F8 F9 GP1BA GP1BB
2 homeostasis/metabolism MP:0005376 10.19 CD9 F2 F2R F8 F9 GP1BA
3 cellular MP:0005384 10.15 CD9 F2 F2R GP1BA ITGA2 ITGA2B
4 cardiovascular system MP:0005385 10.1 F2 F2R F9 ITGA2B ITGB3 JUN
5 immune system MP:0005387 10.03 CD9 F2 F2R F8 F9 GP1BB
6 nervous system MP:0003631 9.73 CD9 F2 F2R GP1BB ITGA2B ITGB3
7 respiratory system MP:0005388 9.23 CD9 F2 ITGB3 JUN NEU1 PRODH

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 29
2 Bernard-Soulier Syndrome Type C 29
3 Bernard Soulier Syndrome 29 GP1BA GP1BB GP9
4 Bernard-Soulier Syndrome, Type A1 (recessive) 29
5 Giant Platelet Disorder, Isolated 29
6 Bernard-Soulier Syndrome, Type A1 29

Anatomical Context for Bernard-Soulier Syndrome

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

40
Kidney, Myeloid, Whole Blood, Breast, Heart, Thyroid, Brain

Publications for Bernard-Soulier Syndrome

Articles related to Bernard-Soulier Syndrome:

(show top 50) (show all 619)
# Title Authors PMID Year
1
Identification of a mutation in a GATA binding site of the platelet glycoprotein Ibbeta promoter resulting in the Bernard-Soulier syndrome. 54 57 6 61
8703016 1996
2
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. 61 54 57 6
2308962 1990
3
Missense mutations of the glycoprotein (GP) Ib beta gene impairing the GPIb alpha/beta disulfide linkage in a family with giant platelet disorder. 57 61 6
9116284 1997
4
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 57 6 61
8481514 1993
5
Bernard-Soulier syndrome in two Swedish families: effect of DDAVP on bleeding time. 57 6 61
1901273 1991
6
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. 6 54 61
14510954 2003
7
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 6 54 61
11222377 2001
8
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. 54 6 61
11167791 2001
9
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. 61 54 6
10887115 2000
10
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. 61 54 6
9886312 1998
11
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. 6 54 61
8049428 1994
12
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. 61 54 6
7690774 1993
13
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. 6 61
25370924 2015
14
Molecular basis of Bernard-Soulier syndrome in 27 patients from India. 61 6
21699652 2011
15
Advances in our understanding of the molecular basis of disorders of platelet function. 57 61
21781244 2011
16
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 61 6
21173099 2011
17
Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. 61 57
15213102 2004
18
A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex. 6 61
12100158 2002
19
Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. 57 61
10706630 2000
20
Bernard-Soulier syndrome. 61 57
9616133 1998
21
Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain. 61 6
9233564 1997
22
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. 61 6
9163595 1997
23
Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. 57 61
8772211 1995
24
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. 61 6
7633430 1995
25
Acquired Bernard-Soulier syndrome. Evidence for the role of a 210,000-molecular weight protein in the interaction of platelets with von Willebrand factor. 57 61
2931453 1985
26
Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood. 57 61
6822670 1983
27
Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome. 57 61
7354135 1980
28
Absence of the platelet receptor for drug-dependent antibodies in the Bernard-Soulier syndrome. 61 57
690191 1978
29
Bernard-Soulier syndrome: a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein. 57 61
1083883 1976
30
Ultrastructure of platelets in Bernard-Soulier syndrome. 57 61
1171340 1975
31
Hereditary giant platelet syndrome: a disorder of a new aspect of platelet function. 61 57
4541347 1973
32
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
33
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 6
31064749 2019
34
Inherited platelet disorders: a clinical approach to diagnosis and management. 57
21801136 2011
35
Inherited defects in platelet signaling mechanisms. 57
12871400 2003
36
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. 6
1730088 1992
37
Evidence that an abnormality in the glycoprotein Ib alpha gene is not the cause of abnormal platelet function in a family with classic Bernard-Soulier disease. 57
1972029 1990
38
Binding of radioiodinated human von Willebrand factor to Bernard-Soulier, thrombasthenic and von Willebrand's disease platelets. 57
6969462 1980
39
Specific roles for platelet surface glycoproteins in platelet function. 57
1169691 1975
40
Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium. Further implications on the role of the von Willebrand factor in hemostasis. 57
4473891 1974
41
Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane. 57
4893927 1969
42
Familial thrombocytopenic thrombocytopathy. 57
6019024 1967
43
MACROTHROMBOCYTIC THROMBOPATHIA. CLINICAL, COAGULATION AND HEREDITARY ASPECTS. 57
14081293 1963
44
Congenital hemorrhagiparous thrombocytic dystrophy. 6
13442197 1957
45
On a new variety of congenital thrombocytary hemo-ragiparous dystrophy. 57
18116504 1948
46
Hemostatic defects in Thai adolescents with menorrhagia. 61 54
20462086 2010
47
A novel homozygous 8-base pair deletion mutation in the glycoprotein Ibalpha gene in a patient with Bernard-Soulier syndrome. 61 54
19448529 2009
48
Bernard-Soulier syndrome: novel nonsense mutation in GPIbbeta gene affecting GPIb-IX complex expression. 54 61
18825380 2009
49
A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. 54 61
18791947 2008
50
Heterozygous loss of platelet glycoprotein (GP) Ib-V-IX variably affects platelet function in velocardiofacial syndrome (VCFS) patients. 61 54
18064328 2007

Variations for Bernard-Soulier Syndrome

ClinVar genetic disease variations for Bernard-Soulier Syndrome:

6 (show top 50) (show all 57)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP9 NM_000174.4(GP9):c.110A>G (p.Asp37Gly) SNV Pathogenic 13530 rs121918036 GRCh37: 3:128780692-128780692
GRCh38: 3:129061849-129061849
2 GP9 NM_000174.4(GP9):c.167T>C (p.Leu56Pro) SNV Pathogenic 13532 rs28933377 GRCh37: 3:128780749-128780749
GRCh38: 3:129061906-129061906
3 GP9 NM_000174.4(GP9):c.20T>C (p.Leu7Pro) SNV Pathogenic 13534 rs121918038 GRCh37: 3:128780602-128780602
GRCh38: 3:129061759-129061759
4 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.338A>G (p.Tyr113Cys) SNV Pathogenic 16038 rs121909750 GRCh37: 22:19711704-19711704
GRCh38: 22:19724181-19724181
5 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.397G>C (p.Ala133Pro) SNV Pathogenic 16039 rs121909751 GRCh37: 22:19711763-19711763
GRCh38: 22:19724240-19724240
6 GP1BB , SEPT5-GP1BB NR_037611.1(SEPT5-GP1BB):n.3581C>G SNV Pathogenic 16041 rs730882059 GRCh37: 22:19710933-19710933
GRCh38: 22:19723410-19723410
7 GP9 NM_000174.4(GP9):c.212T>C (p.Phe71Ser) SNV Pathogenic 13531 rs121918037 GRCh37: 3:128780794-128780794
GRCh38: 3:129061951-129061951
8 GP1BA NM_000173.7(GP1BA):c.1077G>A (p.Trp359Ter) SNV Pathogenic 4151 rs121908061 GRCh37: 17:4836976-4836976
GRCh38: 17:4933681-4933681
9 GP1BA NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) SNV Pathogenic 4157 rs267606849 GRCh37: 17:4837519-4837519
GRCh38: 17:4934224-4934224
10 GP1BA NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) SNV Pathogenic 435347 rs1394634674 GRCh37: 17:4836572-4836572
GRCh38: 17:4933277-4933277
11 GP1BA NM_000173.7(GP1BA):c.104del (p.Lys35fs) Deletion Pathogenic 523620 rs1555549041 GRCh37: 17:4836002-4836002
GRCh38: 17:4932707-4932707
12 GP9 NM_000174.4(GP9):c.70T>C (p.Cys24Arg) SNV Pathogenic 13533 rs28933378 GRCh37: 3:128780652-128780652
GRCh38: 3:129061809-129061809
13 GP9 NM_000174.4(GP9):c.70T>C (p.Cys24Arg) SNV Pathogenic 13533 rs28933378 GRCh37: 3:128780652-128780652
GRCh38: 3:129061809-129061809
14 GP1BA NM_000173.7(GP1BA):c.1280_1281del (p.Thr427fs) Deletion Pathogenic 1031445 GRCh37: 17:4837179-4837180
GRCh38: 17:4933884-4933885
15 GP1BA NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) SNV Pathogenic 4154 rs121908063 GRCh37: 17:4836116-4836116
GRCh38: 17:4932821-4932821
16 GP1BA NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) SNV Pathogenic 4156 rs121908065 GRCh37: 17:4836414-4836414
GRCh38: 17:4933119-4933119
17 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.137G>A (p.Trp46Ter) SNV Pathogenic 16040 rs121909752 GRCh37: 22:19711503-19711503
GRCh38: 22:19723980-19723980
18 GP1BA NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) SNV Pathogenic 4156 rs121908065 GRCh37: 17:4836414-4836414
GRCh38: 17:4933119-4933119
19 GP9 NM_000174.4(GP9):c.182A>G (p.Asn61Ser) SNV Pathogenic 13529 rs5030764 GRCh37: 3:128780764-128780764
GRCh38: 3:129061921-129061921
20 GP9 NM_000174.4(GP9):c.182A>G (p.Asn61Ser) SNV Pathogenic/Likely pathogenic 13529 rs5030764 GRCh37: 3:128780764-128780764
GRCh38: 3:129061921-129061921
21 GP9 NM_000174.5(GP9):c.404G>T (p.Cys135Phe) SNV Likely pathogenic 993015 GRCh37: 3:128780986-128780986
GRCh38: 3:129062143-129062143
22 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.340C>T (p.Arg114Cys) SNV Likely pathogenic 158610 rs587783648 GRCh37: 22:19711706-19711706
GRCh38: 22:19724183-19724183
23 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.505_516dup (p.Val169_Leu172dup) Duplication Likely pathogenic 627082 rs1601249021 GRCh37: 22:19711862-19711863
GRCh38: 22:19724339-19724340
24 SEPT5-GP1BB , GP1BB NM_000407.4(GP1BB):c.410T>C (p.Leu137Pro) SNV Likely pathogenic 627304 rs1601248889 GRCh37: 22:19711776-19711776
GRCh38: 22:19724253-19724253
25 GP9 NM_000174.5(GP9):c.-124C>T SNV Uncertain significance 901795 GRCh37: 3:128780351-128780351
GRCh38: 3:129061508-129061508
26 GP9 NM_000174.4(GP9):c.533G>A (p.Ter178=) SNV Uncertain significance 343223 rs566144272 GRCh37: 3:128781115-128781115
GRCh38: 3:129062272-129062272
27 GP9 NM_000174.5(GP9):c.236C>T (p.Thr79Ile) SNV Uncertain significance 900152 GRCh37: 3:128780818-128780818
GRCh38: 3:129061975-129061975
28 GP9 NM_000174.5(GP9):c.334C>T (p.Arg112Cys) SNV Uncertain significance 900153 GRCh37: 3:128780916-128780916
GRCh38: 3:129062073-129062073
29 GP9 NM_000174.5(GP9):c.423G>A (p.Ala141=) SNV Uncertain significance 900154 GRCh37: 3:128781005-128781005
GRCh38: 3:129062162-129062162
30 GP9 NM_000174.5(GP9):c.524C>T (p.Ala175Val) SNV Uncertain significance 901318 GRCh37: 3:128781106-128781106
GRCh38: 3:129062263-129062263
31 GP9 NM_000174.5(GP9):c.*51C>T SNV Uncertain significance 901319 GRCh37: 3:128781167-128781167
GRCh38: 3:129062324-129062324
32 GP9 NM_000174.5(GP9):c.18C>T (p.Ala6=) SNV Uncertain significance 902701 GRCh37: 3:128780600-128780600
GRCh38: 3:129061757-129061757
33 GP9 NM_000174.5(GP9):c.131C>T (p.Thr44Met) SNV Uncertain significance 902702 GRCh37: 3:128780713-128780713
GRCh38: 3:129061870-129061870
34 GP9 NM_000174.5(GP9):c.203C>T (p.Pro68Leu) SNV Uncertain significance 902703 GRCh37: 3:128780785-128780785
GRCh38: 3:129061942-129061942
35 GP9 NM_000174.4(GP9):c.-13+2T>C SNV Uncertain significance 631904 rs1357144982 GRCh37: 3:128780464-128780464
GRCh38: 3:129061621-129061621
36 GP9 NM_000174.4(GP9):c.-78C>A SNV Uncertain significance 343216 rs886057960 GRCh37: 3:128780397-128780397
GRCh38: 3:129061554-129061554
37 GP9 NM_000174.4(GP9):c.-16G>T SNV Uncertain significance 343219 rs886057963 GRCh37: 3:128780459-128780459
GRCh38: 3:129061616-129061616
38 GP9 NM_000174.4(GP9):c.*38C>T SNV Uncertain significance 343224 rs774275281 GRCh37: 3:128781154-128781154
GRCh38: 3:129062311-129062311
39 GP9 NM_000174.4(GP9):c.368C>T (p.Pro123Leu) SNV Uncertain significance 343220 rs202229101 GRCh37: 3:128780950-128780950
GRCh38: 3:129062107-129062107
40 GP9 NM_000174.4(GP9):c.501C>G (p.Gly167=) SNV Uncertain significance 343222 rs886057964 GRCh37: 3:128781083-128781083
GRCh38: 3:129062240-129062240
41 GP9 NM_000174.4(GP9):c.-39G>A SNV Uncertain significance 343217 rs886057961 GRCh37: 3:128780436-128780436
GRCh38: 3:129061593-129061593
42 GP9 NM_000174.4(GP9):c.438G>A (p.Pro146=) SNV Uncertain significance 343221 rs767278544 GRCh37: 3:128781020-128781020
GRCh38: 3:129062177-129062177
43 GP9 NM_000174.4(GP9):c.-30T>C SNV Uncertain significance 343218 rs886057962 GRCh37: 3:128780445-128780445
GRCh38: 3:129061602-129061602
44 GP1BA NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) SNV Uncertain significance 417940 rs13306411 GRCh37: 17:4836155-4836155
GRCh38: 17:4932860-4932860
45 GP1BA NM_000173.7(GP1BA):c.673T>C (p.Cys225Arg) SNV Uncertain significance 1031446 GRCh37: 17:4836572-4836572
GRCh38: 17:4933277-4933277
46 SEPT5-GP1BB , GP1BB NM_000407.5(GP1BB):c.215C>T (p.Pro72Leu) SNV Uncertain significance 1034192 GRCh37: 22:19711581-19711581
GRCh38: 22:19724058-19724058
47 GP1BA NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1]) Deletion Likely benign 435348 rs869060239 GRCh37: 17:4837118-4837195
GRCh38: 17:4933823-4933900
48 GP9 NM_000174.4(GP9):c.-128C>T SNV Likely benign 343215 rs554290942 GRCh37: 3:128780347-128780347
GRCh38: 3:129061504-129061504
49 GP9 NM_000174.5(GP9):c.-138-3C>G SNV Likely benign 901794 GRCh37: 3:128780334-128780334
GRCh38: 3:129061491-129061491
50 GP9 NM_000174.4(GP9):c.123C>T (p.His41=) SNV Likely benign 723429 rs201755437 GRCh37: 3:128780705-128780705
GRCh38: 3:129061862-129061862

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

72 (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

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:

36
# 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 29)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 VWF THPO ITGB3 ITGA2B ITGA2 GP9
2
Show member pathways
13.31 MYH9 JUN ITGB3 ITGA2B ITGA2 F2R
3
Show member pathways
12.83 MYH9 JUN ITGB3 ITGA2B ITGA2
4
Show member pathways
12.82 MYH9 JUN ITGB3 ITGA2B ITGA2
5
Show member pathways
12.8 VWF JUN ITGB3 ITGA2B ITGA2
6
Show member pathways
12.76 JUN ITGB3 ITGA2B ITGA2 F2R F2
7 12.73 JUN ITGA2B ITGA2 F2R F2
8 12.56 MYH9 ITGB3 ITGA2B ITGA2 F2R F2
9
Show member pathways
12.47 MYH9 JUN ITGB3 ITGA2
10
Show member pathways
12.27 THPO JUN ITGB3 ITGA2B ITGA2
11
Show member pathways
12.25 VWF ITGB3 ITGA2B ITGA2 GP9 GP5
12
Show member pathways
12.22 VWF GP9 GP5 GP1BB GP1BA F9
13 12.05 VWF F9 F8 F2R F2
14 12.02 THPO ITGB3 ITGA2B ITGA2 GP5 GP1BA
15 11.84 JUN ITGB3 ITGA2B ITGA2
16
Show member pathways
11.8 VWF THPO ITGB3 ITGA2B GP9 GP5
17 11.7 ITGB3 ITGA2B ITGA2
18 11.63 THPO ITGB3 ITGA2B ITGA2
19 11.62 VWF ITGB3 ITGA2B ITGA2 GP9 GP5
20 11.6 THPO ITGB3 ITGA2B ITGA2 GP9 GP5
21 11.49 ITGB3 ITGA2B ITGA2
22 11.42 VWF ITGB3 ITGA2B ITGA2 GP9 GP5
23 11.41 MYH9 ITGB3 ITGA2B ITGA2
24 11.4 ITGB3 ITGA2B GP9
25 10.92 THPO JUN ITGB3 ITGA2B ITGA2
26 10.91 VWF ITGA2 GP9 GP5 GP1BB GP1BA
27 10.83 VWF GP9 GP5 GP1BB GP1BA
28 10.8 F9 F2
29 10.68 JUN ITGB3

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 9.96 VWF NEU1 MYH9 ITGB3 ITGA2B GP5
2 integral component of plasma membrane GO:0005887 9.95 ITGB3 GP9 GP5 GP1BB GP1BA F2R
3 cell surface GO:0009986 9.8 ITGB3 ITGA2B ITGA2 GP1BA F2R CD9
4 focal adhesion GO:0005925 9.77 MYH9 ITGB3 ITGA2B ITGA2 CD9
5 plasma membrane GO:0005886 9.5 NEU1 MYH9 JUN ITGB3 ITGA2B ITGA2
6 integrin complex GO:0008305 9.33 ITGB3 ITGA2B ITGA2
7 platelet alpha granule membrane GO:0031092 9.13 ITGB3 ITGA2B CD9

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.02 VWF MYH9 ITGB3 ITGA2B ITGA2 GP9
2 blood coagulation, intrinsic pathway GO:0007597 9.86 VWF GP9 GP5 GP1BB GP1BA F9
3 extracellular matrix organization GO:0030198 9.84 VWF ITGB3 ITGA2B ITGA2
4 hemostasis GO:0007599 9.81 VWF GP9 GP5 GP1BB GP1BA F9
5 integrin-mediated signaling pathway GO:0007229 9.78 MYH9 ITGB3 ITGA2B ITGA2
6 platelet degranulation GO:0002576 9.77 VWF ITGB3 ITGA2B F8 CD9
7 cell-matrix adhesion GO:0007160 9.74 ITGB3 ITGA2B ITGA2
8 platelet aggregation GO:0070527 9.71 MYH9 ITGB3 ITGA2B GP1BA
9 response to wounding GO:0009611 9.7 VWF F2R F2
10 positive regulation of collagen biosynthetic process GO:0032967 9.67 ITGA2 F2R F2
11 platelet activation GO:0030168 9.65 VWF ITGB3 GP9 GP5 GP1BB GP1BA
12 cell-substrate adhesion GO:0031589 9.63 VWF ITGB3 ITGA2
13 regulation of blood coagulation GO:0030193 9.61 GP1BA F2R F2
14 positive regulation of smooth muscle contraction GO:0045987 9.58 ITGA2 F2R
15 positive regulation of blood coagulation GO:0030194 9.58 F2R F2
16 mesodermal cell differentiation GO:0048333 9.56 ITGB3 ITGA2
17 positive regulation of leukocyte migration GO:0002687 9.55 ITGA2B ITGA2
18 thrombin-activated receptor signaling pathway GO:0070493 9.51 GP1BA F2R
19 blood coagulation GO:0007596 9.36 VWF ITGB3 ITGA2 GP9 GP5 GP1BB

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

# Name GO ID Score Top Affiliating Genes
1 fibrinogen binding GO:0070051 9.16 ITGB3 ITGA2B
2 integrin binding GO:0005178 9.02 VWF MYH9 ITGB3 ITGA2 CD9
3 thrombin-activated receptor activity GO:0015057 8.96 GP1BA F2R

Sources for Bernard-Soulier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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