MCID: BRN082
MIFTS: 52

Bernard-Soulier Syndrome, Type C malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type C

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 12DISEASES, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

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

Name: Bernard-Soulier Syndrome, Type C 49
Bernard-Soulier Syndrome 10 45 47 12 51 67 36 65
Bernard-Soulier Syndrome Type C 22 67 24
Bernard-Soulier Syndrome Type B 22 67 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
Giant Platelet Disorder, Isolated 49
Bleeding Disorder Platelet-Type 1 67
Bernard-Soulier Syndrome, Type B 49
Bernard-Soulier Syndrome Type A1 67
Bernard - Soulier Thrombopathy 10
Thrombopathy, Bernard-Soulier 10
Gp1bb-Giant Platelet Syndrome 22
Bdplt1 67
Gpd 67

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

HPO:

61
bernard-soulier syndrome, type c:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 231200
Disease Ontology10 DOID:2217
MeSH36 D001606
NCIt42 C84595
Orphanet51 274
ICD10 via Orphanet28 D69.1
MESH via Orphanet37 D001606
UMLS via Orphanet66 C0005129
UMLS65 C0005129, C2713537

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 bernard-soulier syndrome, type a2, and has symptoms including increased mean platelet volume, prolonged bleeding time and abnormal bleeding. An important gene associated with Bernard-Soulier Syndrome, Type C is GP9 (Glycoprotein IX Platelet), and among its related pathways are Ephrin B reverse signaling and Signal transduction by L1. Affiliated tissues include prostate, spleen and skin, and related mouse phenotypes are digestive/alimentary and cellular.

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 85)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction27.2F2, F2R, FGA, GP1BA, ITGA2, ITGA2B
2bernard-soulier syndrome, type a212.6
3bernard-soulier syndrome type a12.3
4medich giant platelet syndrome12.0
5brooke-spiegler syndrome11.2
6barber-say syndrome10.9
7thrombasthenia10.7
8acral dysostosis dyserythropoiesis syndrome10.7GP1BA, VWF
9split-hand/foot malformation with long bone deficiency 310.7GP1BA, VWF
10type 2m von willebrand disease10.7GP1BA, VWF
11von willibrand disease, type 310.5F2, VWF
12von willebrand's disease10.5
13dysthymic disorder10.5F2, VWF
14thrombocytopenia10.5
15angiodysplasia10.5
16splenic abscess10.4F2, THPO
17corneal argyrosis10.4F2, ITGA2B
18glanzmann thrombasthenia10.4
19nephropathia epidemica10.4F2, VWF
20stickler syndrome col2a110.4F2, GP1BA, VWF
21hypermobility of coccyx10.4F2, GP1BA, VWF
22camptocormism10.3
23atherosclerosis10.3
24hematopoietic stem cell transplantation10.3
25hepatitis10.3
26leukemia10.3
27myeloid leukemia10.3
28pyridoxamine 5'-phosphate oxidase deficiency10.3ITGA2B, ITGB3
29diffuse meningeal melanocytosis10.3F2, THPO
30segawa syndrome, recessive10.3F2, NBEAL2
31megakaryocytic tumor10.3THPO, VWF
32dislocation of ear ossicle10.3ITGA2B, THPO
33mitochondrial metabolism disease10.3F2, ITGA2B, VWF
34spleen cancer10.2F2, ITGA2B, VWF
35hepatic cystic hamartoma10.2F2, GP1BA, ITGA2
36sugarman brachydactyly10.2F2, ITGB3
37heterophyiasis10.2ITGA2B, VWF
38factor v deficiency10.2F2, NBEAL2, VWF
39causalgia10.2ITGA2B, ITGB3
40breast cancer10.2
41factor xii deficiency10.2
42urticaria10.2
43hepatitis c10.2
44gaucher's disease10.2
45purpura10.2
46hermansky-pudlak syndrome10.2
47vasculitis10.2
48drug dependence10.2
49polymicrogyria10.2
50aquagenic urticaria10.2

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

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 GP1BB
2 Bernard-Soulier Syndrome Type C22 GP9

Anatomical Context for Bernard-Soulier Syndrome, Type C

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

33
Prostate, Spleen, Skin, Tongue, Endothelial, Myeloid, Tonsil

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:00053817.5CD36, F2, F2R, FGA, ITGA2B, ITGB3
2MP:00053847.2CD36, F2R, GP1BA, ITGA2, ITGA2B, ITGB3
3MP:00053856.8CD36, F2, F2R, FGA, ITGA2B, ITGB3
4MP:00053875.9CD36, F2, F2R, FGA, ITGA2B, ITGB3
5MP:00053765.1CD36, F2, F2R, FGA, GP1BA, GP1BB
6MP:00053975.0CD36, F2, F2R, FGA, GP1BA, GP1BB

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.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 25)
idSuper pathwaysScoreTop Affiliating Genes
19.6ITGA2B, ITGB3
29.6ITGA2B, ITGB3
39.2ITGA2, ITGA2B, ITGB3
49.2ITGA2, ITGA2B, ITGB3
5
Show member pathways
9.2ITGA2, ITGA2B, ITGB3
69.2ITGA2, ITGA2B, ITGB3
79.0GP1BA, GP1BB, GP5, GP9, VWF
88.9CD36, ITGA2, ITGB3
9
Show member pathways
8.7F2, F2R, FGA, VWF
108.6GP1BA, GP1BB, GP5, GP9, ITGA2, VWF
118.5F2R, ITGA2, ITGA2B, ITGB3, VWF
128.5FGA, ITGA2B, ITGB3, VWF
13
Show member pathways
8.3FGA, ITGA2, ITGA2B, ITGB3
14
Show member pathways
8.1F2, F2R, ITGA2, ITGA2B, ITGB3, MYH9
15
Show member pathways
7.6F2, F2R, FGA, ITGA2, ITGA2B, ITGB3
16
Show member pathways
7.6CD36, F2, F2R, ITGA2, ITGA2B, ITGB3
177.6CD36, GP1BA, GP5, ITGA2, ITGA2B, ITGB3
18
Show member pathways
7.4F2, F2R, FGA, GP1BA, GP1BB, GP5
19
Show member pathways
7.2CD36, FGA, ITGA2, ITGA2B, ITGB3, MYH9
207.1CD36, GP1BA, GP1BB, GP5, GP9, ITGA2
21
Show member pathways
6.6F2, FGA, GP1BA, GP1BB, GP5, GP9
226.4F2R, FGA, GP1BA, GP1BB, GP5, GP9
23
Show member pathways
6.3CD36, FGA, GP1BA, GP1BB, GP5, GP9
245.8CD36, F2, F2R, FGA, GP1BB, GP5
25
Show member pathways
5.3CD36, F2, F2R, FGA, GP1BA, GP1BB

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 lumenGO:00310939.4FGA, VWF

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of collagen biosynthetic processGO:003296710.3F2, F2R
2positive regulation of release of sequestered calcium ion into cytosolGO:005128110.3F2, F2R
3positive regulation of leukocyte migrationGO:000268710.2ITGA2, ITGA2B
4positive regulation of smooth muscle contractionGO:004598710.1F2R, ITGA2
5regulation of blood coagulationGO:003019310.1F2, F2R, GP1BA
6response to woundingGO:00096119.8F2, F2R, VWF
7fibrinolysisGO:00427309.8FGA, GP1BA
8integrin-mediated signaling pathwayGO:00072299.7ITGA2B, ITGB3, MYH9
9positive regulation of blood coagulationGO:00301949.6CD36, F2, F2R
10cell-matrix adhesionGO:00071609.6ITGA2, ITGA2B, ITGB3
11leukocyte migrationGO:00509009.2F2, ITGB3, MYH9
12platelet degranulationGO:00025769.2CD36, FGA, VWF
13cell adhesionGO:00071558.0GP1BA, GP1BB, GP5, GP9, ITGA2B, ITGB3
14platelet activationGO:00301687.9CD36, F2R, FGA, ITGB3, THPO
15blood coagulationGO:00075966.6CD36, F2, F2R, FGA, GP1BA, GP1BB

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