MCID: BRN082
MIFTS: 51

Bernard-Soulier Syndrome, Type C malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type C

About this section
Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 37MeSH, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Bernard-Soulier Syndrome, Type C 50
Bernard-Soulier Syndrome 11 46 24 13 52 68 48 37 66
Giant Platelet Syndrome 11 46 24 52
Von Willebrand Factor Receptor Deficiency 46 24 68
Deficiency of Platelet Glycoprotein 1b 46 24 66
Bernard-Soulier Syndrome Type C 23 68 25
Bernard-Soulier Syndrome Type B 23 68 25
Giant Platelet Disease 46 68 25
Bss 46 24 68
Macrothrombocytopenia, Familial Bernard-Soulier Type 46 24
Hemorrhagiparous Thrombocytic Dystrophy 46 52
Platelet Glycoprotein Ib Deficiency 24 68
Bernard-Soulier Syndrome, Type A1 50 12
Bernard Soulier Syndrome 11 25
Bdplt1 24 68
 
Glycoprotein Ib, Platelet, Deficiency of 24
Hemorrhagioparous Thrombocytic Dystrophy 24
Platelet Glycoprotein 1b, Deficiency of 46
Hemorrhagic Dystrophic Thrombocytopenia 11
Gp9-Related Giant Platelet Syndrome 23
Bleeding Disorder, Platelet-Type, 1 24
Bleeding Disorder Platelet-Type 1 68
Giant Platelet Disorder, Isolated 50
Bernard-Soulier Syndrome, Type B 50
Bernard-Soulier Syndrome Type A1 68
Bernard - Soulier Thrombopathy 11
Thrombopathy, Bernard-Soulier 11
Gp1bb-Giant Platelet Syndrome 23
Gpd 68

Characteristics:

Orphanet epidemiological data:

52
bernard-soulier syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy

HPO:

62
bernard-soulier syndrome, type c:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 231200
Disease Ontology11 DOID:2217
MeSH37 D001606
NCIt43 C84595
Orphanet52 ORPHA274
ICD10 via Orphanet29 D69.1
MESH via Orphanet38 D001606
UMLS via Orphanet67 C0005129

Summaries for Bernard-Soulier Syndrome, Type C

About this section
OMIM:50 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 Ephrin B reverse signaling and Signal transduction by L1. Affiliated tissues include skin, and related mouse phenotypes are digestive/alimentary and immune system.

Genetics Home Reference:24 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:68 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

About this section

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 infarction26.4F2, F2R, FGA, GP1BA, GP6, ITGA2
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
8type 2n von willebrand disease10.7GP1BA, VWF
9trismus-pseudocamptodactyly syndrome10.7GP1BA, VWF
10allain-babin-demarquez syndrome10.6GP1BA, VWF
11dislocation of ear ossicle10.5F2, VWF
12central epithelioid sarcoma10.5F2, VWF
13thrombocytopenia10.5
14angiodysplasia10.5
15tympanosclerosis10.4F2, VWF
16lower urinary tract calculus10.4F2, ITGA2
17cataract 17, multiple types10.4GP1BA, GP1BB, GP9
18glanzmann thrombasthenia10.4
19wfs1-related disorders10.4F2, GP1BA, VWF
20lujo hemorrhagic fever10.3F2, VWF
21fasciitis10.3F2, ITGA2
22splenic infarction10.3F2, THPO
23camptocormism10.3
24atherosclerosis10.3
25hematopoietic stem cell transplantation10.3
26hepatitis10.3
27leukemia10.3
28myeloid leukemia10.3
29interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.3ITGA2B, ITGB3
30psychologic dyspareunia10.2F2, VWF
31infantile-onset ascending hereditary spastic paralysis10.2F2, VWF
32acute zonal occult outer retinopathy10.2F2, ITGB3
33uterine corpus adenosarcoma10.2GP5, GP6
34breast cancer10.2
35factor xii deficiency10.2
36urticaria10.2
37hepatitis c10.2
38gaucher's disease10.2
39purpura10.2
40hermansky-pudlak syndrome10.2
41vasculitis10.2
42drug dependence10.2
43polymicrogyria10.2
44von willebrand disease10.2
45aquagenic urticaria10.2
46autosomal dominant macrothrombocytopenia10.2
47factor v deficiency10.1F2, NBEAL2, VWF
48fallopian tube serous papilloma10.1ITGA2B, ITGB3
49von willibrand disease, type 310.1F2, GP6, VWF
50brown-sequard syndrome10.1

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

About this section

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

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type C

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type B25
2 Bernard-Soulier Syndrome Type C25 23 GP9
3 Bernard Soulier Syndrome25
4 Giant Platelets25
5 Bernard-Soulier Syndrome Type B23 GP1BB

Anatomical Context for Bernard-Soulier Syndrome, Type C

About this section

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

34
Skin

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

About this section

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

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053817.7F2, F2R, FGA, ITGA2B, ITGB3, VWF
2MP:00053876.4F2, F2R, FGA, GP6, ITGA2B, ITGB3
3MP:00053975.1F2, F2R, FGA, GP1BA, GP1BB, GP6
4MP:00053765.1F2, F2R, FGA, GP1BA, GP1BB, GP5

Publications for Bernard-Soulier Syndrome, Type C

About this section

Variations for Bernard-Soulier Syndrome, Type C

About this section

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

68 (show all 15)
id Symbol AA change Variation ID SNP ID
1GP1BAp.Cys81ArgVAR_005256
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.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

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

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

About this section

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

(show all 27)
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
7
Show member pathways
9.0F2, GP6, ITGB3
89.0GP1BA, GP1BB, GP5, GP9, VWF
98.8ITGA2, ITGA2B, ITGB3, THPO
10
Show member pathways
8.7F2, F2R, FGA, 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
8.1F2, F2R, ITGA2, ITGA2B, ITGB3, MYH9
16
Show member pathways
8.1F2, F2R, ITGA2, ITGA2B, ITGB3, THPO
178.1GP1BA, GP5, ITGA2, ITGA2B, ITGB3, THPO
188.0GP1BA, GP1BB, GP5, GP6, GP9, ITGA2
19
Show member pathways
7.8FGA, ITGA2, ITGA2B, ITGB3, MYH9, VWF
20
Show member pathways
7.6F2, F2R, FGA, ITGA2, ITGA2B, ITGB3
217.6GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
22
Show member pathways
6.9F2, F2R, FGA, GP1BA, GP1BB, GP5
23
Show member pathways
6.6F2, FGA, GP1BA, GP1BB, GP5, GP9
24
Show member pathways
6.3FGA, GP1BA, GP1BB, GP5, GP6, GP9
255.9F2R, FGA, GP1BA, GP1BB, GP5, GP6
265.8F2, F2R, FGA, GP1BB, GP5, GP6
27
Show member pathways
5.3F2, F2R, FGA, GP1BA, GP1BB, GP5

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

About this section

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:003109210.2ITGA2B, ITGB3
2platelet alpha granuleGO:003109110.1FGA, VWF
3integrin complexGO:00083059.7ITGA2, ITGA2B, ITGB3, MYH9
4blood microparticleGO:00725629.4F2, FGA, ITGA2B
5focal adhesionGO:00059259.3ITGA2, ITGA2B, ITGB3, MYH9
6cell surfaceGO:00099867.5F2R, FGA, GP1BA, GP6, ITGA2, ITGA2B
7integral component of plasma membraneGO:00058877.4F2R, GP1BA, GP1BB, GP5, GP6, GP9
8extracellular exosomeGO:00700626.8F2, FGA, GP1BA, GP5, GP6, ITGA2B
9plasma membraneGO:00058865.2F2, F2R, FGA, GP1BA, GP1BB, GP5

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

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1hemostasisGO:000759910.6GP1BA, VWF
2positive regulation of leukocyte migrationGO:000268710.4ITGA2, ITGA2B
3platelet formationGO:003022010.3MYH9, NBEAL2
4positive regulation of smooth muscle contractionGO:004598710.2F2R, ITGA2
5thrombin receptor signaling pathwayGO:007049310.2F2R, GP1BA
6regulation of blood coagulationGO:003019310.1F2, F2R, GP1BA
7mesodermal cell differentiationGO:004833310.1ITGA2, ITGB3
8positive regulation of blood coagulationGO:003019410.1F2, F2R
9response to woundingGO:00096119.9F2, F2R, VWF
10positive regulation of release of sequestered calcium ion into cytosolGO:00512819.9F2, F2R
11positive regulation of collagen biosynthetic processGO:00329679.8F2, F2R, ITGA2
12cell-substrate adhesionGO:00315899.7ITGA2, ITGB3, VWF
13positive regulation of protein phosphorylationGO:00019349.6F2, ITGB3, THPO
14fibrinolysisGO:00427309.6F2, FGA, GP1BA
15blood coagulation, intrinsic pathwayGO:00075979.2F2, GP1BA, GP1BB, GP5, GP9, VWF
16platelet degranulationGO:00025768.9FGA, ITGA2B, ITGB3, VWF
17integrin-mediated signaling pathwayGO:00072298.9ITGA2, ITGA2B, ITGB3, MYH9
18cell-matrix adhesionGO:00071608.8FGA, ITGA2, ITGA2B, ITGB3
19platelet aggregationGO:00705278.7FGA, GP1BA, ITGA2B, ITGB3, MYH9
20leukocyte migrationGO:00509008.6F2, GP6, ITGB3, MYH9
21extracellular matrix organizationGO:00301988.3FGA, ITGA2, ITGA2B, ITGB3, VWF
22platelet activationGO:00301687.4F2, F2R, GP1BA, GP1BB, GP5, GP6
23cell adhesionGO:00071557.3GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
24blood coagulationGO:00075965.6F2, 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 receptor activityGO:001505710.4F2R, GP1BA
2extracellular matrix bindingGO:00508409.6ITGA2B, ITGB3
3collagen bindingGO:00055189.2GP6, ITGA2, VWF

Sources for Bernard-Soulier Syndrome, Type C

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet