BSS
MCID: BRN082
MIFTS: 50

Bernard-Soulier Syndrome, Type C (BSS) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type C

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Bernard-Soulier Syndrome, Type C:

Name: Bernard-Soulier Syndrome, Type C 52
Bernard-Soulier Syndrome 11 48 25 54 70 50 39 13 68
Giant Platelet Syndrome 11 48 25 54
Von Willebrand Factor Receptor Deficiency 48 25 70
Deficiency of Platelet Glycoprotein 1b 48 25 68
Bernard-Soulier Syndrome Type B 24 70 27
Bernard-Soulier Syndrome Type C 24 70 27
Giant Platelet Disease 48 70 27
Bss 48 25 70
Macrothrombocytopenia, Familial Bernard-Soulier Type 48 25
Hemorrhagiparous Thrombocytic Dystrophy 48 54
Platelet Glycoprotein Ib Deficiency 25 70
Bernard-Soulier Syndrome, Type A1 52 12
Bernard Soulier Syndrome 11 27
Bdplt1 25 70
 
Hemorrhagioparous Thrombocytic Dystrophy 25
Glycoprotein Ib, Platelet, Deficiency of 25
Hemorrhagic Dystrophic Thrombocytopenia 11
Platelet Glycoprotein 1b, Deficiency of 48
Gp9-Related Giant Platelet Syndrome 24
Bleeding Disorder, Platelet-Type, 1 25
Giant Platelet Disorder, Isolated 52
Bleeding Disorder Platelet-Type 1 70
Bernard-Soulier Syndrome, Type B 52
Bernard-Soulier Syndrome Type A1 70
Bernard - Soulier Thrombopathy 11
Thrombopathy, Bernard-Soulier 11
Gp1bb-Giant Platelet Syndrome 24
Gpd 70

Characteristics:

Orphanet epidemiological data:

54
bernard-soulier syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

64
bernard-soulier syndrome, type c:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 231200
Disease Ontology11 DOID:2217
MeSH39 D001606
NCIt45 C84595
Orphanet54 ORPHA274
MESH via Orphanet40 D001606
UMLS via Orphanet69 C0005129
ICD10 via Orphanet31 D69.1

Summaries for Bernard-Soulier Syndrome, Type C

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OMIM:52 Bernard-Soulier syndrome is an autosomal recessive bleeding disorder caused by a defect in or deficiency of the... (231200) more...

MalaCards based summary: Bernard-Soulier Syndrome, Type C, also known as bernard-soulier syndrome, is related to myocardial infarction and bernard-soulier syndrome, type a2, and has symptoms including menorrhagia, epistaxis and purpura. An important gene associated with Bernard-Soulier Syndrome, Type C is GP9 (Glycoprotein IX Platelet), and among its related pathways are IL1 and megakaryocytes in obesity and Signal transduction by L1. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and immune system.

Disease Ontology:11 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.

Genetics Home Reference:25 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).

UniProtKB/Swiss-Prot:70 Bernard-Soulier syndrome: A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.

Related Diseases for Bernard-Soulier Syndrome, Type C

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

(show top 50)    (show all 83)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction28.5F2, F2R, FGA, GP1BA, GP6, ITGA2
2bernard-soulier syndrome, type a212.6
3bernard-soulier syndrome type a12.2
4medich giant platelet syndrome11.9
5camptocormism11.2
6brooke-spiegler syndrome11.0
7brown-sequard syndrome11.0
8bleeding disorder, platelet-type, 1710.8
9barber-say syndrome10.8
10thrombasthenia10.6
11von willebrand's disease10.4
12thrombocytopenia10.3
13angiodysplasia10.3
14trismus-pseudocamptodactyly syndrome10.3GP1BA, VWF
15vcl-related dilated cardiomyopathy10.3GP1BA, VWF
16glanzmann thrombasthenia10.3
17acromegaloid hypertrichosis syndrome10.3GP1BA, VWF
18cytokine receptor deficiency10.2GP1BA, THPO
19atherosclerosis10.2
20hematopoietic stem cell transplantation10.2
21hepatitis10.2
22leukemia10.2
23myeloid leukemia10.2
24prostatic hypertrophy10.1F2, VWF
25ischemic fasciitis10.1F2, ITGA2
26interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.1ITGA2B, ITGB3
27small intestinal l-cell glucagon-like peptide producing tumor10.1F2, VWF
28cataract 17, multiple types10.1GP1BA, GP1BB, GP9
29fiedler's myocarditis10.1F2, THPO, VWF
30catecholaminergic polymorphic ventricular tachycardia 510.1GP1BA, MYH9, NBEAL2
31cervix small cell carcinoma10.1F2, ITGA2B, VWF
32ovarian mesodermal adenosarcoma10.1GP5, GP6
33supraumbilical midabdominal raphe and facial cavernous hemangiomas10.1F2, ITGB3
34alpha-2-macroglobulin deficiency10.1F2, GP6, VWF
35membranoproliferative glomerulonephritis10.0F2, ITGA2B, THPO, VWF
36villous adenoma10.0F2, GP1BA, ITGB3
37autoimmune disease of central nervous system10.0F2, GP1BA, ITGB3
38stt3a-cdg and stt3b-cdg10.0GP6, ITGB3
39breast cancer10.0
40factor xii deficiency10.0
41thrombosis10.0
42urticaria10.0
43hepatitis c10.0
44gaucher's disease10.0
45purpura10.0
46hermansky-pudlak syndrome10.0
47vasculitis10.0
48drug dependence10.0
49polymicrogyria10.0
50aquagenic urticaria10.0

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



Diseases related to bernard-soulier syndrome, type c

Symptoms & Phenotypes for Bernard-Soulier Syndrome, Type C

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Symptoms by clinical synopsis from OMIM:

231200

Clinical features from OMIM:

231200

Human phenotypes related to Bernard-Soulier Syndrome, Type C:

 64 (show all 8)
id Description HPO Frequency HPO Source Accession
1 menorrhagia64 HP:0000132
2 epistaxis64 HP:0000421
3 purpura64 HP:0000979
4 abnormality of abdomen morphology64 HP:0001438
5 thrombocytopenia64 HP:0001873
6 abnormal bleeding64 HP:0001892
7 prolonged bleeding time64 HP:0003010
8 increased mean platelet volume64 HP:0011877

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome, Type C according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.6F2, F2R, FGA, ITGA2B, ITGB3, VWF
2MP:00053876.2F2, F2R, FGA, GP6, ITGA2B, ITGB3
3MP:00053975.8F2, F2R, FGA, GP1BA, GP1BB, GP6
4MP:00053765.5F2, F2R, FGA, GP1BA, GP1BB, GP5

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type C

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bernard-Soulier Syndrome, Type C


Cochrane evidence based reviews: bernard-soulier syndrome

Genetic Tests for Bernard-Soulier Syndrome, Type C

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Genetic tests related to Bernard-Soulier Syndrome, Type C:

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type B27
2 Bernard-Soulier Syndrome Type C27 24 GP9
3 Bernard Soulier Syndrome27
4 Giant Platelets27
5 Bernard-Soulier Syndrome Type B24 GP1BB

Anatomical Context for Bernard-Soulier Syndrome, Type C

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MalaCards organs/tissues related to Bernard-Soulier Syndrome, Type C:

36
Skin

Publications for Bernard-Soulier Syndrome, Type C

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Variations for Bernard-Soulier Syndrome, Type C

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

70 (show all 15)
id Symbol AA change Variation ID SNP ID
1GP1BAp.Cys81ArgVAR_005256rs781541857
2GP1BAp.Ala172ValVAR_005258rs121908065
3GP1BAp.Cys225SerVAR_005260
4GP1BAp.Leu73PheVAR_014206rs121908063
5GP1BAp.Leu145ProVAR_014207rs771048666
6GP1BBp.Tyr113CysVAR_025000rs121909750
7GP1BBp.Ala133ProVAR_025001rs121909751
8GP9p.Asp37GlyVAR_005263rs121918036
9GP9p.Asn61SerVAR_005264rs5030764
10GP9p.Leu7ProVAR_024996rs121918038
11GP9p.Cys24ArgVAR_024997rs28933378
12GP9p.Leu56ProVAR_024998rs28933377
13GP9p.Phe71SerVAR_024999rs121918037
14GP9p.Cys113TyrVAR_025008
15GP9p.Ala156ThrVAR_025009rs3796130

Clinvar genetic disease variations for Bernard-Soulier Syndrome, Type C:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GP9NM_ 000174.4(GP9): c.182A> G (p.Asn61Ser)SNVPathogenic/ Likely pathogenicrs5030764GRCh37Chr 3, 128780764: 128780764
2GP9NM_ 000174.4(GP9): c.70T> C (p.Cys24Arg)SNVPathogenicrs28933378GRCh37Chr 3, 128780652: 128780652

Expression for genes affiliated with Bernard-Soulier Syndrome, Type C

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

Pathways for genes affiliated with Bernard-Soulier Syndrome, Type C

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

(show all 28)
idSuper pathwaysScoreTop Affiliating Genes
19.8F2, F2R
29.6ITGA2B, ITGB3
39.6ITGA2B, ITGB3
49.3GP9, ITGA2B, ITGB3
59.2ITGA2, ITGA2B, ITGB3
69.2ITGA2, ITGA2B, ITGB3
7
Show member pathways
9.2ITGA2, ITGA2B, ITGB3
89.2ITGA2, ITGA2B, ITGB3
99.2ITGA2, ITGA2B, ITGB3
109.0GP1BA, GP1BB, GP5, GP9, VWF
118.8ITGA2, ITGA2B, ITGB3, THPO
12
Show member pathways
8.7F2, F2R, FGA, VWF
138.5F2R, ITGA2, ITGA2B, ITGB3, VWF
14
Show member pathways
8.5FGA, ITGA2B, ITGB3, VWF
15
Show member pathways
8.5FGA, ITGA2B, ITGB3, VWF
16
Show member pathways
8.3FGA, ITGA2, ITGA2B, ITGB3
17
Show member pathways
8.1F2, F2R, ITGA2, ITGA2B, ITGB3, MYH9
18
Show member pathways
8.1F2, F2R, ITGA2, ITGA2B, ITGB3, MYH9
198.1GP1BA, GP5, ITGA2, ITGA2B, ITGB3, THPO
208.0GP1BA, GP1BB, GP5, GP6, GP9, ITGA2
21
Show member pathways
7.6F2, F2R, FGA, ITGA2, ITGA2B, ITGB3
227.6GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
23
Show member pathways
6.9F2, F2R, FGA, GP1BA, GP1BB, GP5
24
Show member pathways
6.6F2, FGA, GP1BA, GP1BB, GP5, GP9
25
Show member pathways
6.3FGA, GP1BA, GP1BB, GP5, GP6, GP9
265.9F2R, FGA, GP1BA, GP1BB, GP5, GP6
275.8F2, F2R, FGA, GP1BB, GP5, GP6
28
Show member pathways
5.3F2, F2R, FGA, GP1BA, GP1BB, GP5

GO Terms for genes affiliated with Bernard-Soulier Syndrome, Type C

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granuleGO:00310919.7FGA, VWF
2focal adhesionGO:00059259.7ITGA2, ITGA2B, ITGB3, MYH9
3integrin complexGO:00083059.6ITGA2, ITGA2B, ITGB3, MYH9
4platelet alpha granule membraneGO:00310929.6ITGA2B, ITGB3
5external side of plasma membraneGO:00098979.4F2, FGA, ITGA2, ITGA2B
6integral component of plasma membraneGO:00058878.2F2R, GP1BA, GP1BB, GP5, GP6, GP9
7cell surfaceGO:00099868.0F2R, FGA, GP1BA, GP6, ITGA2, ITGA2B
8extracellular exosomeGO:00700627.3F2, FGA, GP1BA, GP5, GP6, ITGA2B
9plasma membraneGO:00058865.5F2, F2R, FGA, GP1BA, GP1BB, GP5

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

(show all 25)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of leukocyte migrationGO:000268710.4ITGA2, ITGA2B
2positive regulation of blood coagulationGO:003019410.4F2, F2R
3platelet formationGO:003022010.3MYH9, NBEAL2
4positive regulation of release of sequestered calcium ion into cytosolGO:005128110.3F2, F2R
5positive regulation of smooth muscle contractionGO:004598710.2F2R, ITGA2
6cell adhesion mediated by integrinGO:003362710.2ITGA2, ITGB3
7mesodermal cell differentiationGO:004833310.1ITGA2, ITGB3
8regulation of blood coagulationGO:003019310.0F2, F2R, GP1BA
9positive regulation of collagen biosynthetic processGO:003296710.0F2, F2R, ITGA2
10cell-substrate adhesionGO:00315899.9ITGA2, ITGB3, VWF
11thrombin-activated receptor signaling pathwayGO:00704939.8F2R, GP1BA
12fibrinolysisGO:00427309.8F2, FGA, GP1BA
13positive regulation of protein phosphorylationGO:00019349.8F2, ITGB3, THPO
14response to woundingGO:00096119.7F2, F2R, VWF
15integrin-mediated signaling pathwayGO:00072299.6ITGA2, ITGA2B, ITGB3, MYH9
16leukocyte migrationGO:00509009.4F2, GP6, ITGB3, MYH9
17blood coagulation, intrinsic pathwayGO:00075979.4F2, GP1BA, GP1BB, GP5, GP9, VWF
18platelet degranulationGO:00025769.1FGA, ITGA2B, ITGB3, VWF
19cell-matrix adhesionGO:00071609.1FGA, ITGA2, ITGA2B, ITGB3
20platelet aggregationGO:00705278.8FGA, GP1BA, ITGA2B, ITGB3, MYH9
21extracellular matrix organizationGO:00301988.8FGA, ITGA2, ITGA2B, ITGB3, VWF
22cell adhesionGO:00071558.1GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
23hemostasisGO:00075997.6F2, F2R, FGA, GP1BA, GP1BB, GP5
24platelet activationGO:00301686.9F2, F2R, FGA, GP1BA, GP1BB, GP5
25blood coagulationGO:00075966.6F2, F2R, FGA, GP1BA, GP1BB, GP5

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

idNameGO IDScoreTop Affiliating Genes
1thrombin-activated receptor activityGO:00150579.8F2R, GP1BA
2extracellular matrix bindingGO:00508409.7ITGA2B, ITGB3
3collagen bindingGO:00055189.7GP6, ITGA2, VWF

Sources for Bernard-Soulier Syndrome, Type C

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet