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BSS
MCID: BRN019
MIFTS: 61

Bernard-Soulier Syndrome (BSS)

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

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MalaCards integrated aliases for Bernard-Soulier Syndrome:

IMPROVED
Name: Bernard-Soulier Syndrome 57 11 19 42 58 73 53 43 14 38 71 75
Giant Platelet Syndrome 11 19 42 58 75
Von Willebrand Factor Receptor Deficiency 57 19 42 73
Bss 57 19 42 73
Hemorrhagiparous Thrombocytic Dystrophy 19 58 75
Deficiency of Platelet Glycoprotein 1b 19 42 71
Platelet Glycoprotein Ib Deficiency 57 42 73
Bernard-Soulier Syndrome, Type A1 57 28 5
Bernard-Soulier Syndrome, Type B 57 28 5
Bernard-Soulier Syndrome Type C 73 28 5
Bernard Soulier Syndrome 11 28 5
Bdplt1 57 42 73
Macrothrombocytopenia, Familial Bernard-Soulier Type 19 42
Glycoprotein Ib, Platelet, Deficiency of 57 42
Bleeding Disorder, Platelet-Type, 1 57 42
Giant Platelet Disorder, Isolated 57 28
Giant Platelet Disease 19 73
Macrothrombocytopenia, Familial, Bernard-Soulier Type 5
Hemorrhagioparous Thrombocytic Dystrophy 42
Hemorrhagic Dystrophic Thrombocytopenia 11
Platelet Glycoprotein 1b, Deficiency of 19
Bleeding Disorder Platelet-Type 1 73
Bernard-Soulier Syndrome, Type C 57
Bernard-Soulier Syndrome Type A1 73
Bernard-Soulier Syndrome Type B 73
Bernard - Soulier Thrombopathy 11
Thrombopathy, Bernard-Soulier 11
Gpd 73

Characteristics:


Inheritance:

Autosomal dominant,Autosomal recessive 58 , Autosomal recessive 57

Prevelance:

<1/1000000 (Worldwide) 58

Age Of Onset:

All ages 58

Age Of Death:

normal life expectancy 58

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Skin diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:2217
OMIM® 57 231200
OMIM Phenotypic Series 57 PS231200
MeSH 43 D001606
NCIt 49 C84595
SNOMED-CT 68 54569005
MESH via Orphanet 44 D001606
ICD10 via Orphanet 32 D69.1
UMLS via Orphanet 72 C0005129
Orphanet 58 ORPHA274
UMLS 71 C0005129 C2713537
Sources

Summaries for Bernard-Soulier Syndrome

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MedlinePlus Genetics: 42 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 qualitative platelet defect. An important gene associated with Bernard-Soulier Syndrome is GP9 (Glycoprotein IX Platelet), and among its related pathways/superpathways are Disease and Integrin Pathway. Affiliated tissues include skin, kidney and bone marrow, and related phenotypes are impaired ristocetin-induced platelet aggregation and macrothrombocytopenia

Disease Ontology: 11 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.

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 24-Oct-2022)

GARD: 19 Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

Orphanet: 58 A rare, inherited platelet disorder characterized by mild to severe bleeding tendency , macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

UniProtKB/Swiss-Prot: 73 A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

Wikipedia 75 Giant platelet syndrome: Giant platelet disorders, also known as macrothrombocytopenia, are rare disorders featuring abnormally... more...

Hemorrhagiparous thrombocytic dystrophy: Bernard-Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by 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 224)
# Related Disease Score Top Affiliating Genes
1 thrombasthenia 31.5 ITGB3 ITGA2B ITGA2 GP9 GP1BA F2
2 qualitative platelet defect 31.5 VWF THPO ITGA2B GP1BA F2
3 purpura 31.3 VWF THPO ITGB3 ITGA2B GP1BA F2
4 thrombocytopenia due to platelet alloimmunization 31.3 VWF THPO ITGB3 ITGA2B GP9 GP5
5 angiodysplasia 31.2 VWF F8 F2
6 factor viii deficiency 31.2 VWF F9 F8 F2
7 von willebrand's disease 31.1 VWF ITGA2B GP9 GP1BB GP1BA F9
8 factor xi deficiency 31.0 VWF F9 F8 F2
9 thrombocytopenic purpura, autoimmune 31.0 THPO ITGB3 ITGA2B GP1BA F8 F2
10 hemophilia 31.0 VWF F9 F8 F2
11 pseudo-von willebrand disease 31.0 VWF GP9 GP1BB GP1BA F8
12 autosomal dominant macrothrombocytopenia 30.9 ITGB3 ITGA2B GP1BB GP1BA
13 glanzmann thrombasthenia 1 30.9 VWF MYH9 ITGB3 ITGA2B ITGA2 GP9
14 afibrinogenemia, congenital 30.8 VWF ITGA2B F8 F2
15 hemorrhagic disease 30.8 VWF THPO ITGA2B GP1BA F9 F8
16 deficiency anemia 30.8 VWF THPO GP1BA F9 F2
17 blood platelet disease 30.7 VWF THPO PRODH MYH9 ITGB3 ITGA2B
18 gray platelet syndrome 30.7 VWF ITGA2B GP9 GP5
19 thrombotic thrombocytopenic purpura 30.6 VWF GP1BA F8
20 factor xii deficiency 30.6 VWF F9 F2
21 hemophilia a 30.6 VWF F9 F8 F2
22 thrombophilia due to thrombin defect 30.6 VWF F9 F8 F2
23 thrombocytopenia 30.6 VWF THPO SEPT5-GP1BB NEU1 MYH9 ITGB3
24 fetal and neonatal alloimmune thrombocytopenia 30.6 ITGB3 ITGA2B ITGA2 GP1BB GP1BA
25 von willebrand disease, type 2 30.3 VWF GP1BA F8
26 bernard-soulier syndrome, type a2, autosomal dominant 12.0
27 medich giant platelet syndrome 11.5
28 brooke-spiegler syndrome 11.4
29 barber-say syndrome 11.4
30 blood group, gerbich system 11.3
31 beare-stevenson cutis gyrata syndrome 11.1
32 brown-sequard syndrome 11.1
33 camptocormism 11.1
34 rare hemorrhagic disorder 10.6
35 rapidly involuting congenital hemangioma 10.6
36 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
37 iron metabolism disease 10.4
38 acrokeratoderma, hereditary papulotranslucent 10.4 GP9 GP1BB GP1BA
39 endocarditis 10.4 ITGB3 GP1BA F2
40 bleeding disorder, platelet-type, 16 10.4 ITGB3 ITGA2B
41 synovial angioma 10.4 F8 F2
42 heparin-induced thrombocytopenia 10.4 ITGB3 ITGA2B F2
43 ceroid lipofuscinosis, neuronal, 5 10.4
44 chromosome 22q11.2 deletion syndrome, distal 10.4
45 iron deficiency anemia 10.4
46 von willebrand disease, type 1 10.4 VWF GP1BA F8
47 intracranial embolism 10.4 VWF ITGA2B F2
48 von willebrand disease, type 3 10.4 VWF GP1BA F8
49 malignant gastric germ cell tumor 10.4 ITGB3 ITGA2B
50 post-thrombotic syndrome 10.3 VWF F8 F2

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

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Human phenotypes related to Bernard-Soulier Syndrome:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.25 CD9 F2 F2R F8 F9 GP1BA
2 nervous system MP:0003631 10.11 CD9 F2 F2R ITGA2B ITGB3 JUN
3 cellular MP:0005384 10.03 CD9 F2 F2R GP1BA ITGA2 ITGA2B
4 immune system MP:0005387 10 CD9 F2 F2R F8 F9 GP9
5 skeleton MP:0005390 9.65 CD9 F2 F2R ITGA2B ITGB3 JUN
6 hematopoietic system MP:0005397 9.55 CD9 F2 F2R F8 F9 GP1BA
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

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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 28
2 Bernard-Soulier Syndrome Type C 28
3 Bernard Soulier Syndrome 28 GP1BA GP1BB GP9
4 Bernard-Soulier Syndrome, Type A1 (recessive) 28
5 Giant Platelet Disorder, Isolated 28
Sources

Anatomical Context for Bernard-Soulier Syndrome

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Organs/tissues related to Bernard-Soulier Syndrome:

MalaCards : Skin, Kidney, Bone Marrow, Bone, Whole Blood, Myeloid, Fetal Brain
ODiseA: Blood And Bone Marrow
Sources

Publications for Bernard-Soulier Syndrome

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Articles related to Bernard-Soulier Syndrome:

(show top 50) (show all 651)
# 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. 53 62 57 5
8703016 1996
2
Nonsense mutation in the glycoprotein Ib alpha coding sequence associated with Bernard-Soulier syndrome. 53 62 57 5
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. 62 57 5
9116284 1997
4
Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome. 62 57 5
8481514 1993
5
Bernard-Soulier syndrome in two Swedish families: effect of DDAVP on bleeding time. 62 57 5
1901273 1991
6
Bernard-Soulier syndrome due to the homozygous Asn-45Ser mutation in GPIX: an unexpected, frequent finding in Germany. 53 62 5
14510954 2003
7
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 53 62 5
11222377 2001
8
Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome. 53 62 5
11167791 2001
9
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. 53 62 5
10887115 2000
10
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. 53 62 5
9886312 1998
11
Novel point mutation in the leucine-rich motif of the platelet glycoprotein IX associated with Bernard-Soulier syndrome. 53 62 5
9432024 1997
12
Variant Bernard-Soulier syndrome associated with a homozygous mutation in the leucine-rich domain of glycoprotein IX. 53 62 5
8049428 1994
13
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. 53 62 5
7690774 1993
14
Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype. 62 5
28131619 2017
15
A Brazilian case of Bernard-Soulier syndrome with two distinct founder mutations. 62 5
28765788 2017
16
Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study. 62 5
25370924 2015
17
Functional and molecular characterization of inherited platelet disorders in the Iberian Peninsula: results from a collaborative study. 62 5
25539746 2014
18
Molecular basis of Bernard-Soulier syndrome in 27 patients from India. 62 5
21699652 2011
19
Advances in our understanding of the molecular basis of disorders of platelet function. 62 57
21781244 2011
20
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. 62 5
21173099 2011
21
Bernard-Soulier syndrome (hemorrhagiparous thrombocytic dystrophy). 62 5
17109744 2006
22
Genetic deletion of mouse platelet glycoprotein Ibbeta produces a Bernard-Soulier phenotype with increased alpha-granule size. 62 57
15213102 2004
23
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. 62 5
12100158 2002
24
Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome. 62 57
10706630 2000
25
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. 62 5
10227459 1999
26
Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein. 62 5
9639514 1998
27
Bernard-Soulier syndrome. 62 57
9616133 1998
28
Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain. 62 5
9233564 1997
29
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. 62 5
9163595 1997
30
Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. 62 57
8772211 1995
31
Identification of a patient with Bernard-Soulier syndrome and a deletion in the DiGeorge/velo-cardio-facial chromosomal region in 22q11.2. 62 5
7633430 1995
32
Acquired Bernard-Soulier syndrome. Evidence for the role of a 210,000-molecular weight protein in the interaction of platelets with von Willebrand factor. 62 57
2931453 1985
33
Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood. 62 57
6822670 1983
34
Immunochemical evidence for protein abnormalities in platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome. 62 57
7354135 1980
35
Absence of the platelet receptor for drug-dependent antibodies in the Bernard-Soulier syndrome. 62 57
690191 1978
36
Bernard-Soulier syndrome: a new platelet glycoprotein abnormality. Its relationship with platelet adhesion to subendothelium and with the factor VIII von Willebrand protein. 62 57
1083883 1976
37
Ultrastructure of platelets in Bernard-Soulier syndrome. 62 57
1171340 1975
38
Hereditary giant platelet syndrome: a disorder of a new aspect of platelet function. 62 57
4541347 1973
39
Congenital hemorrhagiparous thrombocytic dystrophy. 62 5
13442197 1957
40
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
41
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
42
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
43
Introducing high-throughput sequencing into mainstream genetic diagnosis practice in inherited platelet disorders. 5
28983057 2018
44
Inherited platelet disorders: a clinical approach to diagnosis and management. 57
21801136 2011
45
Inherited defects in platelet signaling mechanisms. 57
12871400 2003
46
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
47
Binding of radioiodinated human von Willebrand factor to Bernard-Soulier, thrombasthenic and von Willebrand's disease platelets. 57
6969462 1980
48
Specific roles for platelet surface glycoproteins in platelet function. 57
1169691 1975
49
Decreased adhesion of giant (Bernard-Soulier) platelets to subendothelium. Further implications on the role of the von Willebrand factor in hemostasis. 57
4473891 1974
50
Congenital thrombocytopenia with giant platelets: a defect in the platelet membrane. 57
4893927 1969
Sources

Variations for Bernard-Soulier Syndrome

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ClinVar genetic disease variations for Bernard-Soulier Syndrome:

IMPROVED
5 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP1BA NM_000173.7(GP1BA):c.1077G>A (p.Trp359Ter) SNV Pathogenic
 4151 rs121908061 GRCh37: 17:4836976-4836976
GRCh38: 17:4933681-4933681
2 GP1BA NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) SNV Pathogenic
 4156 rs121908065 GRCh37: 17:4836414-4836414
GRCh38: 17:4933119-4933119
3 GP9 NM_000174.5(GP9):c.110A>G (p.Asp37Gly) SNV Pathogenic
 13530 rs121918036 GRCh37: 3:128780692-128780692
GRCh38: 3:129061849-129061849
4 GP9 NM_000174.5(GP9):c.167T>C (p.Leu56Pro) SNV Pathogenic
 13532 rs28933377 GRCh37: 3:128780749-128780749
GRCh38: 3:129061906-129061906
5 GP9 NM_000174.5(GP9):c.20T>C (p.Leu7Pro) SNV Pathogenic
 13534 rs121918038 GRCh37: 3:128780602-128780602
GRCh38: 3:129061759-129061759
6 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.338A>G (p.Tyr113Cys) SNV Pathogenic
 16038 rs121909750 GRCh37: 22:19711704-19711704
GRCh38: 22:19724181-19724181
7 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.397G>C (p.Ala133Pro) SNV Pathogenic
 16039 rs121909751 GRCh37: 22:19711763-19711763
GRCh38: 22:19724240-19724240
8 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.137G>A (p.Trp46Ter) SNV Pathogenic
Likely Pathogenic
 16040 rs121909752 GRCh37: 22:19711503-19711503
GRCh38: 22:19723980-19723980
9 GP1BB, SEPT5-GP1BB NR_037611.1(SEPT5-GP1BB):n.3581C>G SNV Pathogenic
 16041 rs730882059 GRCh37: 22:19710933-19710933
GRCh38: 22:19723410-19723410
10 GP1BA NM_000173.7(GP1BA):c.241T>C (p.Cys81Arg) SNV Pathogenic
 1677212 GRCh37: 17:4836140-4836140
GRCh38: 17:4932845-4932845
11 GP9 NM_000174.5(GP9):c.70T>C (p.Cys24Arg) SNV Pathogenic
Pathogenic
 13533 rs28933378 GRCh37: 3:128780652-128780652
GRCh38: 3:129061809-129061809
12 GP1BA NM_000173.7(GP1BA):c.434T>C (p.Leu145Pro) SNV Pathogenic
 1684365 GRCh37: 17:4836333-4836333
GRCh38: 17:4933038-4933038
13 GP9 DEL Pathogenic
 1333009 GRCh37: 3:128777610-128781268
GRCh38: 3:129058767-129062425
14 GP9 NM_000174.5(GP9):c.-210_*133del (p.Met1fs) DEL Pathogenic
 1338739 GRCh37: 3:128779622-128781249
GRCh38: 3:129060779-129062406
15 GP1BA NM_000173.7(GP1BA):c.674G>C (p.Cys225Ser) SNV Pathogenic
 1691252 GRCh37: 17:4836573-4836573
GRCh38: 17:4933278-4933278
16 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.317_320dup (p.Glu109fs) MICROSAT Pathogenic
 1691255 GRCh37: 22:19711677-19711678
GRCh38: 22:19724154-19724155
17 GP1BA NM_000173.7(GP1BA):c.499G>T (p.Glu167Ter) SNV Pathogenic
 1679419 GRCh37: 17:4836398-4836398
GRCh38: 17:4933103-4933103
18 GP9 NM_000174.5(GP9):c.212T>C (p.Phe71Ser) SNV Pathogenic
Pathogenic
 13531 rs121918037 GRCh37: 3:128780794-128780794
GRCh38: 3:129061951-129061951
19 GP1BA NM_000173.7(GP1BA):c.1620G>A (p.Trp540Ter) SNV Pathogenic
 4157 rs267606849 GRCh37: 17:4837519-4837519
GRCh38: 17:4934224-4934224
20 GP1BA NM_000173.7(GP1BA):c.104del (p.Lys35fs) DEL Pathogenic
 523620 rs1555549041 GRCh37: 17:4836002-4836002
GRCh38: 17:4932707-4932707
21 GP9 NM_000174.5(GP9):c.182A>G (p.Asn61Ser) SNV Pathogenic
Pathogenic/Likely Pathogenic
 13529 rs5030764 GRCh37: 3:128780764-128780764
GRCh38: 3:129061921-129061921
22 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.1A>T (p.Met1Leu) SNV Pathogenic
 1691253 GRCh37: 22:19711093-19711093
GRCh38: 22:19723570-19723570
23 GP1BA NM_000173.7(GP1BA):c.1846_1852del (p.Asn616fs) DEL Pathogenic
 1703858 GRCh37: 17:4837745-4837751
GRCh38: 17:4934450-4934456
24 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.22dup (p.Ala8fs) DUP Pathogenic
 1703862 GRCh37: 22:19711384-19711385
GRCh38: 22:19723861-19723862
25 GP1BA NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) SNV Pathogenic
Pathogenic
Uncertain Significance
 435347 rs1394634674 GRCh37: 17:4836572-4836572
GRCh38: 17:4933277-4933277
26 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.47T>C (p.Leu16Pro) SNV Pathogenic
 627320 rs1601248210 GRCh37: 22:19711413-19711413
GRCh38: 22:19723890-19723890
27 GP1BA NM_000173.7(GP1BA):c.1845_1849del (p.Asn616fs) DEL Pathogenic
 1338214 GRCh37: 17:4837744-4837748
GRCh38: 17:4934449-4934453
28 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.443G>A (p.Trp148Ter) SNV Pathogenic
 1691232 GRCh37: 22:19711809-19711809
GRCh38: 22:19724286-19724286
29 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.500T>C (p.Leu167Pro) SNV Pathogenic
 1691233 GRCh37: 22:19711866-19711866
GRCh38: 22:19724343-19724343
30 GP1BA NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) SNV Likely Pathogenic
 1679418 GRCh37: 17:4836036-4836036
GRCh38: 17:4932741-4932741
31 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.491dup (p.His164fs) DUP Likely Pathogenic
 1703859 GRCh37: 22:19711856-19711857
GRCh38: 22:19724333-19724334
32 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.462_511del (p.Gln154fs) DEL Likely Pathogenic
 1703860 GRCh37: 22:19711828-19711877
GRCh38: 22:19724305-19724354
33 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.278G>A (p.Cys93Tyr) SNV Likely Pathogenic
 1703861 GRCh37: 22:19711644-19711644
GRCh38: 22:19724121-19724121
34 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.400G>A (p.Glu134Lys) SNV Likely Pathogenic
 1679421 GRCh37: 22:19711766-19711766
GRCh38: 22:19724243-19724243
35 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.406G>T (p.Glu136Ter) SNV Likely Pathogenic
 1679210 GRCh37: 22:19711772-19711772
GRCh38: 22:19724249-19724249
36 GP1BA NM_000173.7(GP1BA):c.1845_1848del (p.Asn616fs) DEL Likely Pathogenic
 1679215 GRCh37: 17:4837744-4837747
GRCh38: 17:4934449-4934452
37 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.340C>T (p.Arg114Cys) SNV Likely Pathogenic
 158610 rs587783648 GRCh37: 22:19711706-19711706
GRCh38: 22:19724183-19724183
38 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.268C>T (p.Pro90Ser) SNV Likely Pathogenic
 1691254 GRCh37: 22:19711634-19711634
GRCh38: 22:19724111-19724111
39 GP1BA NM_000173.7(GP1BA):c.1951dup (p.Ser651fs) DUP Likely Pathogenic
 1684366 GRCh37: 17:4837849-4837850
GRCh38: 17:4934554-4934555
40 GP1BA NM_000173.7(GP1BA):c.1436del (p.Phe478_Leu479insTer) DEL Likely Pathogenic
 1684369 GRCh37: 17:4837331-4837331
GRCh38: 17:4934036-4934036
41 GP1BA NM_000173.7(GP1BA):c.1283C>G (p.Ser428Ter) SNV Likely Pathogenic
 1684370 GRCh37: 17:4837182-4837182
GRCh38: 17:4933887-4933887
42 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.423C>A (p.Cys141Ter) SNV Likely Pathogenic
 1324499 GRCh37: 22:19711789-19711789
GRCh38: 22:19724266-19724266
43 GP9 NM_000174.5(GP9):c.259T>C (p.Trp87Arg) SNV Likely Pathogenic
 1691236 GRCh37: 3:128780841-128780841
GRCh38: 3:129061998-129061998
44 GP9 NM_000174.5(GP9):c.404G>T (p.Cys135Phe) SNV Likely Pathogenic
 993015 rs769561588 GRCh37: 3:128780986-128780986
GRCh38: 3:129062143-129062143
45 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.505_516dup (p.Val169_Leu172dup) DUP Likely Pathogenic
 627082 rs1601249021 GRCh37: 22:19711862-19711863
GRCh38: 22:19724339-19724340
46 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.410T>C (p.Leu137Pro) SNV Likely Pathogenic
 627304 rs1601248889 GRCh37: 22:19711776-19711776
GRCh38: 22:19724253-19724253
47 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.80C>T (p.Pro27Leu) SNV Likely Pathogenic
 1691234 GRCh37: 22:19711446-19711446
GRCh38: 22:19723923-19723923
48 GP1BA NM_000173.7(GP1BA):c.1480del (p.Thr494fs) DEL Likely Pathogenic
 1691251 GRCh37: 17:4837373-4837373
GRCh38: 17:4934078-4934078
49 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.2T>C (p.Met1Thr) SNV Likely Pathogenic
 1705376 GRCh37: 22:19711094-19711094
GRCh38: 22:19723571-19723571
50 SEPT5-GP1BB, GP1BB NM_000407.5(GP1BB):c.236_244del (p.Pro79_Leu81del) DEL Uncertain Significance
 627039 rs1601248578 GRCh37: 22:19711594-19711602
GRCh38: 22:19724071-19724079

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

73 (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 rs1394634674
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

Sources

Expression for Bernard-Soulier Syndrome

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

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

(show all 28)
# Super pathways Score Top Affiliating Genes
1
Disease 66
Show member pathways
 13.65 CD9 F2 F8 F9 GP1BA GP1BB
2
Integrin Pathway 64
Show member pathways
 13.28 MYH9 JUN ITGB3 ITGA2B ITGA2 F2R
3
Response to elevated platelet cytosolic Ca2+ 66
Show member pathways
 13.06 VWF THPO ITGB3 ITGA2B ITGA2 GP9
4
PI3K-Akt signaling pathway 74
Show member pathways
 12.83 VWF ITGB3 ITGA2B ITGA2 F2R
5
Actin Nucleation by ARP-WASP Complex 64
Show member pathways
 12.8 MYH9 JUN ITGB3 ITGA2B ITGA2
6
Sertoli-Sertoli Cell Junction Dynamics 64
Show member pathways
 12.79 ITGA2 ITGA2B ITGB3 JUN MYH9
7
Development Angiotensin activation of ERK 22
Show member pathways
 12.69 F2 F2R ITGA2 ITGA2B ITGB3 JUN
8
Complement cascade 66
Show member pathways
 12.49 ITGB3 ITGA2B ITGA2 F2
9
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases 22
Show member pathways
 12.43 ITGA2 ITGB3 JUN MYH9
10
Diseases of hemostasis 66
Show member pathways
 12.43 VWF GP9 GP5 GP1BB GP1BA F9
11
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.24 THPO JUN ITGB3 ITGA2B ITGA2
12
Focal adhesion 74
12.17 VWF JUN ITGB3 ITGA2B ITGA2
13
Integrin-mediated cell adhesion 74
Show member pathways
 12.11 JUN ITGB3 ITGA2B ITGA2
14
ECM proteoglycans 66
Show member pathways
 12.05 VWF ITGB3 ITGA2B ITGA2
15
22q11.2 copy number variation syndrome 74
12.03 VWF PRODH GP9 GP5 GP1BB GP1BA
16
Hematopoietic Stem Cells and Lineage-specific Markers 65
11.95 THPO ITGB3 ITGA2B ITGA2 GP5 GP1BA
17
Ebola virus infection in host 74
11.92 TFAP2A ITGB3 ITGA2
18
"Gamma carboxylation, hypusine formation and arylsulfatase activation" 66
Show member pathways
 11.82 F9 F8 F2
19
Reelin Pathway (Cajal-Retzius cells) 64
11.82 JUN ITGB3 ITGA2B ITGA2
20
G-protein signaling_RhoA regulation pathway 22
11.61 THPO ITGB3 ITGA2B ITGA2
21
Cytoskeleton remodeling_RalA regulation pathway 22
11.39 MYH9 ITGB3 ITGA2B ITGA2
22
"Platelet Aggregation Inhibitor Pathway, Pharmacodynamics" 60
11.32 VWF ITGB3 ITGA2B ITGA2 GP9 GP5
23
Integrin signaling 66
Show member pathways
 11.26 VWF THPO ITGB3 ITGA2B GP9 GP5
24
"Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction" 60
11.24 ITGB3 ITGA2B F2
25
Platelet Adhesion to exposed collagen 66
Show member pathways
 11.17 GP1BA GP1BB GP5 GP9 ITGA2 VWF
26
Ephrin B reverse signaling 61
10.88 ITGB3 ITGA2B
27
G-protein signaling_Rap2B regulation pathway 22
10.88 THPO JUN ITGB3 ITGA2B ITGA2
28
Defective factor IX causes thrombophilia 66
Show member pathways
 10.68 F9 F8
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 plasma membrane GO:0005887 10.34 ITGB3 GP9 GP5 GP1BB GP1BA F2R
2 plasma membrane GO:0005886 10.34 ITGB3 GP9 GP5 GP1BB GP1BA F2R
3 external side of plasma membrane GO:0009897 10 CD9 F2 GP1BA ITGA2 ITGA2B ITGB3
4 integrin complex GO:0008305 9.63 ITGB3 ITGA2B ITGA2
5 platelet alpha granule membrane GO:0031092 9.43 ITGB3 ITGA2B CD9
6 glycoprotein Ib-IX-V complex GO:1990779 9.23 GP9 GP5 GP1BB GP1BA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.36 CD9 GP1BA GP1BB GP5 GP9 ITGA2
2 integrin-mediated signaling pathway GO:0007229 10.13 MYH9 ITGB3 ITGA2B ITGA2
3 release of sequestered calcium ion into cytosol GO:0051209 10.13 GP9 GP5 GP1BB GP1BA F2R
4 platelet activation GO:0030168 10.1 CD9 F2 F2R GP1BA GP1BB ITGB3
5 platelet aggregation GO:0070527 10.02 MYH9 ITGB3 GP1BA
6 megakaryocyte development GO:0035855 10.02 THPO GP9 GP5 GP1BB GP1BA
7 cell adhesion mediated by integrin GO:0033627 10.01 ITGB3 ITGA2B ITGA2
8 positive regulation of collagen biosynthetic process GO:0032967 9.99 ITGA2 F2R F2
9 cell-substrate adhesion GO:0031589 9.97 ITGA2 ITGB3 VWF
10 positive regulation of platelet activation GO:0010572 9.97 GP9 GP5 GP1BB GP1BA
11 blood coagulation GO:0007596 9.96 F2 F2R F8 F9 GP1BA GP1BB
12 regulation of blood coagulation GO:0030193 9.95 GP1BA F2R F2
13 thrombin-activated receptor signaling pathway GO:0070493 9.86 GP1BA F2R
14 blood coagulation, intrinsic pathway GO:0007597 9.85 GP9 GP5 GP1BB GP1BA F8
15 regulation of body fluid levels GO:0050878 9.63 F9 F8 F2
16 hemostasis GO:0007599 9.32 F2 F2R F8 F9 GP1BA GP1BB

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

# Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 9.4 VWF MYH9 ITGB3 ITGA2B ITGA2 CD9
2 thrombin-activated receptor activity GO:0015057 9.26 GP1BA F2R
Sources

Sources for Bernard-Soulier Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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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