MCID: BRN082
MIFTS: 51

Bernard-Soulier Syndrome, Type C malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Bernard-Soulier Syndrome, Type C

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

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

Name: Bernard-Soulier Syndrome, Type C 49 22 24
Bernard-Soulier Syndrome 10 45 47 12 51 65 36 67
Bernard-Soulier Syndrome, Type B 49 22 24
Giant Platelet Syndrome 10 45 51
Von Willebrand Factor Receptor Deficiency 45 67
Hemorrhagiparous Thrombocytic Dystrophy 45 51
Deficiency of Platelet Glycoprotein 1b 45 65
Bernard-Soulier Syndrome, Type A1 49 11
Bernard Soulier Syndrome 10 24
Giant Platelet Disease 45 67
Bss 45 67
Macrothrombocytopenia, Familial Bernard-Soulier Type 45
Platelet Glycoprotein 1b, Deficiency of 45
 
Hemorrhagic Dystrophic Thrombocytopenia 10
Platelet Glycoprotein Ib Deficiency 67
Gp9-Related Giant Platelet Syndrome 22
Bleeding Disorder Platelet-Type 1 67
Giant Platelet Disorder, Isolated 49
Bernard-Soulier Syndrome Type A1 67
Bernard-Soulier Syndrome Type B 67
Bernard-Soulier Syndrome Type C 67
Bernard - Soulier Thrombopathy 10
Thrombopathy, Bernard-Soulier 10
Gp1bb-Giant Platelet Syndrome 22
Bdplt1 67
Gpd 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
bernard-soulier syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM49 231200
Disease Ontology10 DOID:2217
NCIt42 C84595
MeSH36 D001606
Orphanet51 274
ICD10 via Orphanet28 D69.1
MESH via Orphanet37 D001606
UMLS via Orphanet66 C0005129

Summaries for Bernard-Soulier Syndrome, Type C

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OMIM:49 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 thrombasthenia, and has symptoms including autosomal recessive inheritance, menorrhagia and epistaxis. An important gene associated with Bernard-Soulier Syndrome, Type C is GP9 (Glycoprotein IX (Platelet)), and among its related pathways are Signal transduction by L1 and ECM proteoglycans. Related mouse phenotypes are digestive/alimentary and embryogenesis.

UniProtKB/Swiss-Prot:67 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 86)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction29.5F2, F2R, FGA, GP1BA, ITGA2, ITGA2B
2thrombasthenia10.9
3bernard-soulier syndrome, type a210.8
4von willebrand's disease10.7
5thrombocytopenia10.7
6angiodysplasia10.7
7bernard-soulier syndrome type a10.7
8glanzmann thrombasthenia10.6
9atherosclerosis10.5
10hematopoietic stem cell transplantation10.5
11hepatitis10.5
12leukemia10.5
13myeloid leukemia10.5
14camptocormism10.4
15breast cancer10.3
16factor xii deficiency10.3
17hermansky-pudlak syndrome10.3
18hepatitis c10.3
19gaucher's disease10.3
20drug dependence10.3
21purpura10.3
22urticaria10.3
23vasculitis10.3
24polymicrogyria10.3
25aquagenic urticaria10.3
26autosomal dominant macrothrombocytopenia10.3
27medich giant platelet syndrome10.3
28brooke-spiegler syndrome10.3
29cataract10.3
30split-hand/foot malformation with long bone deficiency 310.3GP1BA, VWF
31type 2m von willebrand disease10.3GP1BA, VWF
32acral dysostosis dyserythropoiesis syndrome10.3GP1BA, VWF
33cyclic vomiting syndrome10.2GP1BA, THPO
34von willebrand disease, type 110.2F2, VWF
35bronchitis10.2
36brown-sequard syndrome10.2
37lens disease10.2
38beta-ureidopropionase deficiency10.2GP1BA, GP1BB, GP9
39splenic manifestation of leukemia10.2F2, THPO
40stickler syndrome col2a110.2F2, GP1BA, VWF
41pulmonary valve agenesis - fallot's tetralogy - absence of ductus arteriosus10.2F2, VWF
42scleroperikeratitis10.2F2, GP1BA, VWF
43pyridoxamine 5'-phosphate oxidase deficiency10.2ITGA2B, ITGB3
44membranoproliferative glomerulonephritis10.1F2, ITGA2B
45bleeding disorder, platelet-type, 1710.1
46skeletal muscle regeneration10.1F2, VWF
47malignant otitis externa10.1GP1BA, ITGB3, VWF
48factor v deficiency10.1F2, NBEAL2, VWF
49cerebrum cancer10.1F2, ITGA2B, VWF
50equatorial staphyloma10.1F2, GP1BA, ITGA2B, VWF

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



Diseases related to bernard-soulier syndrome, type c

Symptoms for Bernard-Soulier Syndrome, Type C

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Symptoms by clinical synopsis from OMIM:

231200

Clinical features from OMIM:

231200

HPO human phenotypes related to Bernard-Soulier Syndrome, Type C:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 menorrhagia HP:0000132
3 epistaxis HP:0000421
4 purpura HP:0000979
5 abnormality of the abdomen HP:0001438
6 thrombocytopenia HP:0001873
7 abnormal bleeding HP:0001892
8 prolonged bleeding time HP:0003010
9 increased mean platelet volume HP:0011877

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 B22 24 GP1BB
2 Bernard-Soulier Syndrome Type C22 24 GP9
3 Bernard-Soulier Syndrome, Type B24
4 Bernard Soulier Syndrome24

Anatomical Context for Bernard-Soulier Syndrome, Type C

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Animal Models for Bernard-Soulier Syndrome, Type C or affiliated genes

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MGI Mouse Phenotypes related to Bernard-Soulier Syndrome, Type C:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.4F2, F2R, FGA, ITGA2B, ITGB3, VWF
2MP:00053808.0BLM, F2, F2R, FGA, ITGA2B, ITGB3
3MP:00053847.5BLM, F2, F2R, GP1BA, ITGA2, ITGA2B
4MP:00053856.9ANKRD26, BLM, F2, F2R, FGA, ITGA2B
5MP:00053876.6BLM, F2, F2R, FGA, ITGA2B, ITGB3
6MP:00053975.6ANO6, BLM, F2, F2R, FGA, GP1BA
7MP:00053764.7ANKRD26, ANO6, F2, F2R, FGA, GP1BA

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:

67 (show all 15)
id Symbol AA change Variation ID SNP ID
1GP1BAp.Cys81ArgVAR_005256
2GP1BAp.Ala172ValVAR_005258
3GP1BAp.Cys225SerVAR_005260
4GP1BAp.Leu73PheVAR_014206
5GP1BAp.Leu145ProVAR_014207
6GP1BBp.Tyr113CysVAR_025000
7GP1BBp.Ala133ProVAR_025001
8GP9p.Asp37GlyVAR_005263
9GP9p.Asn61SerVAR_005264rs5030764
10GP9p.Leu7ProVAR_024996
11GP9p.Cys24ArgVAR_024997rs28933378
12GP9p.Leu56ProVAR_024998rs28933377
13GP9p.Phe71SerVAR_024999
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.70T> C (p.Cys24Arg)single nucleotide variantPathogenicrs28933378GRCh37Chr 3, 128780652: 128780652
2GP1BANM_000173.6(GP1BA): c.217C> T (p.Leu73Phe)single nucleotide variantPathogenicrs121908063GRCh37Chr 17, 4836116: 4836116
3GP1BANM_000173.6(GP1BA): c.515C> T (p.Ala172Val)single nucleotide variantPathogenicrs121908065GRCh37Chr 17, 4836414: 4836414

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 21)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7ITGA2B, ITGB3
29.3ITGA2, ITGA2B, ITGB3
39.3ITGA2, ITGA2B, ITGB3
49.3ITGA2, ITGA2B, ITGB3
5
Show member pathways
9.3ITGA2, ITGA2B, ITGB3
69.1GP1BA, GP1BB, GP5, GP9, VWF
7
Show member pathways
8.9F2, F2R, FGA, VWF
88.8FGA, ITGA2B, ITGB3, VWF
9
Show member pathways
8.8FGA, ITGA2B, ITGB3, VWF
108.7GP1BA, GP1BB, GP5, GP9, ITGA2, VWF
118.7F2R, ITGA2, ITGA2B, ITGB3, VWF
128.7FGA, ITGA2, ITGA2B, ITGB3
13
Show member pathways
8.4F2, F2R, ITGA2, ITGA2B, ITGB3, MYH9
14
Show member pathways
8.0F2, F2R, FGA, ITGA2, ITGA2B, ITGB3
15
Show member pathways
7.9GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
167.9GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
17
Show member pathways
7.8F2, F2R, FGA, GP1BA, GP1BB, GP5
18
Show member pathways
7.1F2, FGA, GP1BA, GP1BB, GP5, GP9
197.0F2R, FGA, GP1BA, GP1BB, GP5, GP9
206.9F2, F2R, FGA, GP1BB, GP5, GP9
21
Show member pathways
6.4F2, 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 granule membraneGO:003109210.3ITGA2B, ITGB3
2platelet alpha granuleGO:003109110.3FGA, VWF
3blood microparticleGO:00725629.8F2, FGA, ITGA2B
4integrin complexGO:00083059.8ITGA2, ITGA2B, ITGB3, MYH9
5focal adhesionGO:00059259.5ITGA2, ITGA2B, ITGB3, MYH9
6external side of plasma membraneGO:00098979.5FGA, ITGA2, ITGA2B, VWF
7integral component of plasma membraneGO:00058878.5F2R, GP1BA, GP1BB, GP5, GP9, ITGA2B
8cell surfaceGO:00099867.3ANO6, F2R, FGA, GP1BA, ITGA2, ITGA2B
9extracellular exosomeGO:00700627.0ANO6, F2, FGA, GP1BA, GP5, ITGA2B
10plasma membraneGO:00058866.0ANO6, F2, F2R, FGA, GP1BA, GP1BB

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1hemostasisGO:000759910.6GP1BA, VWF
2platelet formationGO:003022010.4MYH9, NBEAL2
3positive regulation of collagen biosynthetic processGO:003296710.4F2, F2R
4positive regulation of blood coagulationGO:003019410.3F2, F2R
5negative regulation of platelet activationGO:001054410.3F2, GP5
6mesodermal cell differentiationGO:004833310.2ITGA2, ITGB3
7regulation of blood coagulationGO:003019310.1F2, F2R, GP1BA
8response to woundingGO:000961110.1F2, F2R, VWF
9fibrinolysisGO:00427309.9F2, FGA, GP1BA
10thrombin receptor signaling pathwayGO:00704939.9F2R, GP1BA
11cell-substrate adhesionGO:00315899.8ITGA2, ITGB3, VWF
12leukocyte migrationGO:00509009.8F2, ITGB3, MYH9
13positive regulation of protein phosphorylationGO:00019349.8F2, ITGB3, THPO
14blood coagulation, intrinsic pathwayGO:00075979.4F2, GP1BA, GP1BB, GP5, GP9, VWF
15platelet aggregationGO:00705279.4FGA, ITGA2B, ITGB3, MYH9
16platelet degranulationGO:00025769.3FGA, ITGA2B, ITGB3, VWF
17integrin-mediated signaling pathwayGO:00072299.3ITGA2, ITGA2B, ITGB3, MYH9
18cell-matrix adhesionGO:00071608.6FGA, GP5, ITGA2, ITGA2B, ITGB3
19extracellular matrix organizationGO:00301988.4FGA, ITGA2, ITGA2B, ITGB3, VWF
20cell adhesionGO:00071558.0GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
21platelet activationGO:00301686.4F2, F2R, FGA, GP1BA, GP1BB, GP5
22blood coagulationGO:00075965.3ANO6, F2, F2R, FGA, GP1BA, GP1BB

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

idNameGO IDScoreTop Affiliating Genes
1thrombin receptor activityGO:001505710.7F2R, GP1BA
2extracellular matrix bindingGO:005084010.2ITGA2B, ITGB3
3collagen bindingGO:00055189.9GP5, ITGA2, VWF
4protein bindingGO:00055154.4ANKRD26, ANO6, BLM, F2, F2R, FGA

Sources for Bernard-Soulier Syndrome, Type C

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet