BSS
MCID: BRN019
MIFTS: 56

Bernard-Soulier Syndrome (BSS) malady

Blood category

Summaries for Bernard-Soulier Syndrome

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy, is a rare... more...

MalaCards: Bernard-Soulier Syndrome, also known as bernard soulier syndrome, is related to glanzmann's thrombasthenia and thrombocytopenia. An important gene associated with Bernard-Soulier Syndrome is GP1BA (glycoprotein Ib (platelet), alpha polypeptide), and among its related pathways are Gamma-carboxylation, transport, and amino-terminal cleavage of proteins and Common Pathway. The compounds acetaminophen and warfarin have been mentioned in the context of this disorder. Affiliated tissues include whole blood, heart and breast, and related mouse phenotypes are embryogenesis and digestive/alimentary.

Description from OMIM:47 153670,231200

Aliases & Classifications for Bernard-Soulier Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 45Novoseek, 61UMLS, 22GTR, 47OMIM, 40NCIt, 57SNOMED-CT, 35MeSH
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Aliases & Descriptions:

bernard-soulier syndrome 8 43 10 45 61
bernard soulier syndrome 8 22
giant platelet syndrome 8 43
hemorrhagic dystrophic thrombocytopenia 8
hemorrhagiparous thrombocytic dystrophy 43
deficiency of platelet glycoprotein 1b 43
bernard - soulier thrombopathy 8
thrombopathy, bernard-soulier 8
giant platelet disease 43
bss 43


External Ids:

Disease Ontology8 DOID:2217
NCIt40 C84595
MeSH35 D001606

Related Diseases for Bernard-Soulier Syndrome

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Bernard-Soulier Syndrome family:

bernard-soulier syndrome type a bernard-soulier syndrome type b
bernard-soulier syndrome, type a1 bernard-soulier syndrome, type a2

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

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1glanzmann's thrombasthenia31.2ITGB3, ITGA2B
2thrombocytopenia30.7ITGB3, ITGA2B, ITGA2, MYH9, RECK, FGA
3acute leukemia30.6THPO, FGA, MYH9
4hepatitis b30.6F9, F8, F2
5atherosclerosis30.6ITGB3, ITGA2B, RECK, FGA, VWF, F2R
6hepatitis c30.6F9, F8, NEU1, F2, F2R, THPO
7hepatitis a30.4F2, F8
8blood platelet disease30.4F8, VWF, F2R
9vasculitis30.4FGA, VWF, F2
10antiphospholipid syndrome30.4F8, VWF, F2
11protein s deficiency30.4F8, FGA, F2
12n syndrome10.9
13thrombasthenia10.8
14bernard-soulier syndrome type b10.8
15bernard-soulier syndrome type c10.7
16char syndrome10.7
17bernard-soulier syndrome type a10.7
18angiodysplasia10.6
19bernard-soulier syndrome, type a210.6
20micro syndrome10.5
21bernard-soulier syndrome, type a110.5
22acute myeloid leukemia10.4
23short syndrome10.4
24gaucher's disease10.3
25digeorge syndrome10.3
26autoimmune hepatitis10.3
27conn's syndrome10.3
28hermansky-pudlak syndrome10.3
29urticaria10.3
30pseudo-gaucher disease10.3
31polymicrogyria10.3
32aquagenic urticaria10.3
33cousin syndrome10.3
34german syndrome10.3
35digeorge syndrome 210.3
36hematopoietic stem cell transplantation10.3
37medich giant platelet syndrome10.2
38brown-sequard syndrome10.2
39brooke-spiegler syndrome10.0
40bronchitis10.0
41pigment-dispersion syndrome10.0
42purpura10.0THPO
43hemorrhagic disease10.0F9
44cerebrovascular disease10.0RECK
45obesity10.0F2R
46afibrinogenemia10.0FGA
47dilated cardiomyopathy10.0FGA
48hemolytic-uremic syndrome10.0VWF
49colorectal cancer10.0RECK
50lupus erythematosus10.0F2

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



Diseases related to bernard-soulier syndrome

Clinical Features for Bernard-Soulier Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

153670,231200

Drugs & Therapeutics for Bernard-Soulier Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Bernard-Soulier Syndrome

Drug clinical trials:

Search ClinicalTrials for Bernard-Soulier Syndrome

Search NIH Clinical Center for Bernard-Soulier Syndrome

Search CenterWatch for Bernard-Soulier Syndrome

Genetic Tests for Bernard-Soulier Syndrome

Sources:
22GTR
See all sources

Genetic tests related to Bernard-Soulier Syndrome:

id Genetic test Affiliating Genes
1 Bernard Soulier Syndrome22

Anatomical Context for Bernard-Soulier Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Bernard-Soulier Syndrome:

33
Whole blood, Heart, Breast, Myeloid

Animal Models for Bernard-Soulier Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Bernard-Soulier Syndrome

Sources:
51PubMed
See all sources

Articles related to Bernard-Soulier Syndrome:

(show top 50)    (show all 219)
idTitleAuthorsYear
1
A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation. (22372535)
2013
2
Correction of murine Bernard-Soulier syndrome by lentivirus-mediated gene therapy. (22044935)
2012
3
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
4
Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations. (21173099)
2011
5
Deletion of human GP1BB and SEPT5 is associated with Bernard-Soulier syndrome, platelet secretion defect, polymicrogyria, and developmental delay. (21800012)
2011
6
Megakaryocytes derived from patients with the classical form of Bernard-Soulier syndrome show no ability to extend proplatelets inA vitro. (21322749)
2011
7
Off-pump coronary artery bypass grafting in a patient with Bernard-Soulier syndrome. (20609798)
2010
8
Intrinsic impaired proplatelet formation and microtubule coil assembly of megakaryocytes in a mouse model of Bernard-Soulier syndrome. (19377075)
2009
9
A case of Bernard-Soulier Syndrome due to a homozygous four bases deletion (TGAG) of GPIbalpha gene: lack of GPIbalpha but absence of bleeding. (18791947)
2008
10
Perioperative management of a patient with Bernard-Soulier syndrome for third molar surgery. (17174124)
2007
11
Monitoring survival and function of transfused platelets in Bernard-Soulier syndrome by flow cytometry and a cone and plate(let) analyzer (Impact-R). (17207237)
2007
12
Bernard-Soulier syndrome due to GPIX W127X mutation in Japan is frequently misdiagnosed as idiopathic thrombocytopenic purpura. (16757441)
2006
13
Familial aquagenic urticaria and bernard-soulier syndrome. (16319487)
2006
14
Co-existence of Bernard Soulier syndrome and factor XI deficiency in a family: a unified pathology? (15823864)
2005
15
Successful pregnancy outcome in Bernard-Soulier syndrome. (15669993)
2005
16
Recurrent mutation Trp126 --> stop of glycoprotein IX in Japanese Bernard-Soulier syndrome. (12850844)
2003
17
Amelioration of the macrothrombocytopenia associated with the murine Bernard-Soulier syndrome. (12200373)
2002
18
Successful intravenous interferon-beta treatment of chronic hepatitis C in a patient with Bernard-Soulier syndrome. (11108901)
2000
19
Surface expression of glycoprotein ib alpha is dependent on glycoprotein ib beta: evidence from a novel mutation causing Bernard-Soulier syndrome. (10887115)
2000
20
Variant Bernard-Soulier syndrome due to homozygous Asn45Ser mutation in the platelet glycoprotein (GP) IX in seven patients of five unrelated Finnish families. (10227459)
1999
21
Acquired Bernard-Soulier syndrome: a case with necrotizing vasculitis and thrombosis. (10702705)
1999
22
A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV. (9886312)
1998
23
Treatment of a patient with Bernard-Soulier syndrome and recurrent nosebleeds with recombinant factor VIIa. (9716174)
1998
24
Impaired prothrombin consumption in Bernard-Soulier syndrome is corrected in vitro by human factor VIII. (9157600)
1997
25
A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome. (9163595)
1997
26
Bernard-Soulier syndrome Karlstad: Trp 498-->Stop mutation resulting in a truncated glycoprotein Ib alpha that contains part of the transmembranous domain. (9233564)
1997
27
Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion. (8950770)
1996
28
Hemobilia and Bernard-Soulier syndrome. (8633533)
1996
29
A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I). (7873390)
1995
30
Heterogeneous expression of glycoprotein Ib, IX and V in platelets from two patients with Bernard-Soulier syndrome caused by different genetic abnormalities. (8772211)
1995
31
DDAVP shortens bleeding time in Bernard-Soulier syndrome. (8091397)
1994
32
Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome. (7855797)
1994
33
Bernard-Soulier syndrome Kagoshima: Ser 444-->stop mutation of glycoprotein (GP) Ib alpha resulting in circulating truncated GPIb alpha and surface expression of GPIb beta and GPIX. (7949089)
1994
34
Coincidence of familial platelet glycoprotein Ib/IX deficiency (Bernard-Soulier syndrome), idiopathic autoantibody against platelet glycoprotein Ib/IX, familial appearance of antiphospholipid antibodies, and familial factor XII deficiency. (8148415)
1994
35
Defective adhesion of blood platelets to vascular microfibrils in the Bernard-Soulier syndrome. (8400250)
1993
36
Phospholipase C activity in platelets from Bernard-Soulier syndrome patients. (8218096)
1993
37
Evidence that DDAVP transiently improves hemostasis in Bernard-Soulier syndrome independent of von Willebrand-factor. (8373905)
1993
38
Obstetric complications in a patient with Bernard-Soulier syndrome. (1714677)
1991
39
Variation in surface platelet glycoprotein Ib expression in Bernard-Soulier syndrome. (2387554)
1990
40
Studies on the megakaryocytes of a patient with the Bernard-Soulier syndrome. (2265115)
1990
41
DDAVP in Bernard-Soulier syndrome. (3201400)
1988
42
Recurrent life-threatening epistaxis in a child with Bernard-Soulier syndrome controlled by bilateral ligation of external carotids and ethmoidal arteries. (3113161)
1987
43
Bernard-Soulier syndrome presenting as recurrent exsanguinating haematemesis. (3699856)
1986
44
Twin pregnancy and parturition in a patient with the Bernard Soulier syndrome. (3489980)
1986
45
Molecular defects of platelets in Bernard-Soulier syndrome. (6229301)
1983
46
New morphological findings on platelets in Bernard-Soulier syndrome. (7256741)
1981
47
Further studies on the protein composition and surface structure of normal platelets and platelets from patients with Glanzmann's thrombasthenia and Bernard-Soulier syndrome. (570311)
1978
48
Defective adhesion of platelets to subendothelium in von Willebrand's disease and Bernard-Soulier syndrome. (309194)
1978
49
Effect of shear rate on platelet interaction with subendothelium in citrated and native blood. I. Shear rate--dependent decrease of adhesion in von Willebrand's disease and the Bernard-Soulier syndrome. (309498)
1978
50
Thromboxane synthesis and the platelet release reaction in Bernard-Soulier syndrome, thrombasthenia Glanzmann and Hermansky-Pudlak syndrome. (559512)
1977

Genetic Variations for Bernard-Soulier Syndrome

Expression for genes affiliated with Bernard-Soulier Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Bernard-Soulier Syndrome

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

Pathways for genes affiliated with Bernard-Soulier Syndrome

Sources:
54Reactome, 50PharmGKB, 52QIAGEN, 30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 53R&D Systems
See all sources

Pathways related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.9F2, F9
2
Hide members
9.9F2, FGA
39.4ITGA2, ITGA2B, ITGB3
49.4ITGA2, ITGA2B, ITGB3
5
Hide members
9.4ITGB3, ITGA2B, ITGA2
6
Hide members
9.1ITGB3, ITGA2B, FGA, VWF
7
Hide members
9.0ITGB3, ITGA2B, ITGA2, VWF
8
Hide members
9.0MYH9, ITGA2, ITGA2B, ITGB3
9
Hide members
9.0ITGB3, ITGA2B, ITGA2, MYH9
10
Hide members
9.0ITGB3, ITGA2B, ITGA2, MYH9
11
Hide members
8.9ITGB3, ITGA2B, ITGA2, F2R, THPO
128.8ITGB3, ITGA2B, ITGA2, VWF, F2R
138.7VWF, GP9, GP1BA, GP5, GP1BB
14
Hide members
8.5ITGB3, ITGA2B, ITGA2, F2, F2R, THPO
15
Hide members
8.5F8, ITGB3, ITGA2B, FGA, VWF
16
Hide members
8.5ITGB3, ITGA2B, ITGA2, FGA, F2, F2R
17
Hide members
8.4ITGB3, ITGA2B, ITGA2, MYH9, F2, F2R
18
Hide members
8.4ITGB3, ITGA2B, ITGA2, MYH9, F2, F2R
198.3GP1BB, GP5, GP1BA, GP9, VWF, ITGA2
20
Hide members
8.2ITGA2B, ITGA2, FGA, VWF, F2, F2R
21
Hide members
8.1F9, F8, ITGB3, ITGA2B, ITGA2, F11
22
Hide members
8.0F9, F8, F11, FGA, VWF, F2
237.7ITGB3, ITGA2B, ITGA2, GP9, GP1BA, GP5
24
Hide members
7.6THPO, F2R, F2, GP1BB, GP5, GP1BA
25
Hide members
7.4F9, F8, ITGB3, ITGA2B, ITGA2, F11
26
Hide members
7.3VWF, FGA, ITGA2, ITGA2B, ITGB3, GP9
27
Hide members
7.1VWF, FGA, ITGA2B, ITGB3, GP9, GP1BA
286.9F2R, F2, GP1BB, GP5, GP9, VWF
29
Hide members
6.8F9, F2, GP1BB, GP5, GP1BA, GP9

Compounds for genes affiliated with Bernard-Soulier Syndrome

Sources:
45Novoseek, 2BitterDB, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 125)
idCompoundScoreTop Affiliating Genes
1acetaminophen45 2 50 11 2414.2F9
2warfarin45 50 11 2413.0F9, FGA, VWF
3bivalirudin45 1110.8FGA, F2, F2R
4ppack459.7FGA, VWF, F2, F2R
5estrogen459.7F9, F8, THPO
611-dehydrothromboxane b2459.7FGA, VWF, F2
7glucose459.7F2R, GP1BA, RECK
8tributylphosphate459.6VWF, F8, F9
9guanidino459.6ITGA2, NEU1, F2R
10rfviii459.6VWF, F8, F9
11adp45 29 2411.6F2R, GP9, FGA, ITGA2, ITGA2B
12kaolin459.5F9, F8, F2
13Coagulation Factor IX119.4F2, F11, F8
14thromboxane45 2410.4ITGA2, FGA, VWF, F2R, THPO
15dermatan sulfate459.4F2, VWF, F11, F9
16tranexamic acid45 1110.4F9, F8, VWF, F2
17kininogen459.3F9, F11, VWF, GP1BA, F2
18hydroxyethyl starch459.3F8, VWF, F2
19aspartate459.3F8, GP9, GP1BB, F2, F2R
20clopidogrel50 45 11 2412.1ITGB3, ITGA2, VWF, F2, F2R
21abciximab45 1110.1ITGB3, ITGA2B, VWF, GP1BA, F2, F2R
22prostacyclin458.9F8, FGA, VWF, GP1BA, F2R, THPO
23tirofiban45 119.9ITGB3, ITGA2B, ITGA2, VWF, F2, F2R
24aprotinin45 119.9F9, F11, RECK, FGA, VWF, F2R
25homocysteine45 249.9F9, F8, F11, VWF, F2
26thromboxane a245 249.8F8, ITGA2, FGA, VWF, F2R, THPO
27desmopressin45 60 29 1111.8F9, F8, F11, VWF, GP1BA, F2
28sialic acid458.6F9, F8, NEU1, RECK, THPO
29endotoxin458.6F9, F8, F11, RECK, FGA
30arachidonic acid45 29 11 2411.6ITGA2B, ITGA2, RECK, VWF, F2R, THPO
31methionine458.5F9, F8, ITGA2, RECK, VWF, GP1BA
32latex458.4F9, F8, ITGA2, FGA, VWF, GP1BA
33phosphatidylcholine458.3F9, F8, ITGA2, NEU1, F2
34phospholipid458.3F9, F8, ITGA2, F11, VWF, F2
35epinephrine45 11 2410.3F8, ITGA2, FGA, VWF, GP1BA, F2
36vegf458.2THPO, F2R, VWF, RECK, F8
37polyacrylamide458.0F9, F8, ITGB3, ITGA2, NEU1, RECK
38alanine458.0F9, F8, ITGB3, VWF, GP1BA, F2
39hirudin458.0F9, F8, F11, FGA, VWF, GP1BA
40lysine458.0F9, F8, ITGB3, ITGA2B, ITGA2, RECK
41serine458.0F9, F8, ITGA2B, NEU1, F11, FGA
42phosphatidylserine45 29 119.7F9, F8, ITGB3, NEU1, RECK, VWF
43lactate457.6F8, RECK, FGA, VWF, GP1BA, GP5
44heparin45 29 11 2410.3F9, F8, ITGA2, NEU1, F11, RECK
45ristocetin457.1F9, F8, ITGB3, F11, RECK, VWF
46aspirin45 50 29 2410.0F2, F2R, THPO, GP5, GP1BA, F8
47tyrosine456.9F9, F8, ITGB3, ITGA2, MYH9, RECK
48cysteine456.9F9, F8, ITGB3, ITGA2B, ITGA2, NEU1
49calcium45 50 11 249.7F9, F8, ITGB3, ITGA2B, ITGA2, MYH9
50fibrinogen455.3THPO, F8, ITGB3, ITGA2B, ITGA2, F11

GO Terms for genes affiliated with Bernard-Soulier Syndrome

Sources:
16Gene Ontology
See all sources

Cellular components related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granuleGO:0310919.9VWF, FGA
2platelet alpha granule membraneGO:0310929.6ITGB3, ITGA2B
3platelet alpha granule lumenGO:0310939.3F8, FGA, VWF
4external side of plasma membraneGO:0098979.3VWF, FGA, ITGA2, ITGA2B
5integrin complexGO:0083059.2ITGB3, ITGA2B, ITGA2, MYH9
6integral to plasma membraneGO:0058878.1ITGB3, ITGA2B, GP9, GP1BA, GP5, GP1BB
7extracellular regionGO:0055767.7F9, F8, F11, FGA, VWF, F2
8plasma membraneGO:0058864.6F2R, F9, F8, ITGB3, ITGA2B, ITGA2

Biological processes related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.0F2, F9
2positive regulation of blood coagulationGO:03019410.0F2R, F2
3regulation of blood coagulationGO:03019310.0GP1BA, F2, F2R
4fibrinolysisGO:04273010.0F2, GP1BA
5response to woundingGO:0096119.8VWF, F2, F2R
6positive regulation of release of sequestered calcium ion into cytosolGO:0512819.6F2R, F2
7negative regulation of platelet activationGO:0105449.5F2, GP5
8integrin-mediated signaling pathwayGO:0072299.2MYH9, ITGA2, ITGA2B, ITGB3
9leukocyte migrationGO:0509009.2F2, MYH9, ITGB3
10axon guidanceGO:0074119.0ITGB3, ITGA2B, ITGA2, MYH9
11extracellular matrix organizationGO:0301989.0ITGB3, ITGA2B, ITGA2, RECK
12platelet degranulationGO:0025768.8F8, ITGB3, ITGA2B, FGA, VWF
13cell-matrix adhesionGO:0071608.8ITGB3, ITGA2B, ITGA2, GP5
14blood coagulation, intrinsic pathwayGO:0075977.4F2, GP1BB, GP5, GP1BA, GP9, VWF
15cell adhesionGO:0071557.3F8, ITGB3, ITGA2B, ITGA2, VWF, GP9
16platelet activationGO:0301686.5GP1BA, GP9, VWF, FGA, ITGA2B, ITGB3
17blood coagulationGO:0075965.5THPO, F2R, F2, GP1BB, GP5, GP1BA

Molecular functions related to Bernard-Soulier Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:01505710.0F2R, GP1BA
2collagen bindingGO:0055188.7GP5, VWF, ITGA2
3protein bindingGO:0055155.8F2R, F8, ITGB3, ITGA2B, ITGA2, F11

Products for genes affiliated with Bernard-Soulier Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bernard-Soulier Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet