MCID: BRN082
MIFTS: 50

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:
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 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: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 79)
idRelated DiseaseScoreTop Affiliating Genes
1myocardial infarction26.6F2, F2R, FGA, GP1BA, GP6, ITGA2
2bernard-soulier syndrome, type a212.5
3bernard-soulier syndrome type a12.2
4medich giant platelet syndrome11.9
5brooke-spiegler syndrome11.0
6brown-sequard syndrome11.0
7bleeding disorder, platelet-type, 1710.8
8barber-say syndrome10.8
9thrombasthenia10.6
10type 2n von willebrand disease10.6GP1BA, VWF
11trismus-pseudocamptodactyly syndrome10.6GP1BA, VWF
12allain-babin-demarquez syndrome10.5GP1BA, VWF
13dislocation of ear ossicle10.4F2, VWF
14central epithelioid sarcoma10.4F2, VWF
15tympanosclerosis10.4F2, VWF
16von willebrand's disease10.4
17lower urinary tract calculus10.4F2, ITGA2
18cataract 17, multiple types10.4GP1BA, GP1BB, GP9
19thrombocytopenia10.3
20angiodysplasia10.3
21wfs1-related disorders10.3F2, GP1BA, VWF
22lujo hemorrhagic fever10.3F2, VWF
23splenic infarction10.3F2, THPO
24fasciitis10.3F2, ITGA2
25glanzmann thrombasthenia10.3
26psychologic dyspareunia10.2F2, VWF
27interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital10.2ITGA2B, ITGB3
28atherosclerosis10.2
29hematopoietic stem cell transplantation10.2
30hepatitis10.2
31leukemia10.2
32myeloid leukemia10.2
33acute zonal occult outer retinopathy10.2F2, ITGB3
34colon carcinoma in situ10.1ITGA2B, VWF
35uterine corpus adenosarcoma10.1GP5, GP6
36fallopian tube serous papilloma10.1ITGA2B, ITGB3
37factor v deficiency10.1F2, NBEAL2, VWF
38von willibrand disease, type 310.1F2, GP6, VWF
39combat disorder10.1GP5, GP6
40uterine body mixed cancer10.0GP5, GP6
41breast cancer10.0
42factor xii deficiency10.0
43urticaria10.0
44hepatitis c10.0
45purpura10.0
46vasculitis10.0
47drug dependence10.0
48polymicrogyria10.0
49aquagenic urticaria10.0
50autosomal dominant macrothrombocytopenia10.0

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 the abdomen64 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:00053765.8F2, 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)SNVPathogenicrs5030764GRCh37Chr 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 26)
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

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
1blood microparticleGO:00725629.8F2, FGA, ITGA2B
2platelet alpha granuleGO:00310919.7FGA, VWF
3focal adhesionGO:00059259.7ITGA2, ITGA2B, ITGB3, MYH9
4integrin complexGO:00083059.6ITGA2, ITGA2B, ITGB3, MYH9
5platelet alpha granule membraneGO:00310929.6ITGA2B, ITGB3
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:00058865.9F2, F2R, FGA, GP1BA, GP1BB, GP5

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1hemostasisGO:000759910.6GP1BA, VWF
2positive regulation of leukocyte migrationGO:000268710.4ITGA2, ITGA2B
3positive regulation of blood coagulationGO:003019410.4F2, F2R
4platelet formationGO:003022010.3MYH9, NBEAL2
5positive regulation of release of sequestered calcium ion into cytosolGO:005128110.3F2, F2R
6positive regulation of smooth muscle contractionGO:004598710.2F2R, ITGA2
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
11fibrinolysisGO:00427309.7F2, FGA, GP1BA
12positive regulation of protein phosphorylationGO:00019349.7F2, ITGB3, THPO
13integrin-mediated signaling pathwayGO:00072299.5ITGA2, ITGA2B, ITGB3, MYH9
14response to woundingGO:00096119.5F2, F2R, VWF
15leukocyte migrationGO:00509009.4F2, GP6, ITGB3, MYH9
16blood coagulation, intrinsic pathwayGO:00075979.4F2, GP1BA, GP1BB, GP5, GP9, VWF
17platelet degranulationGO:00025769.1FGA, ITGA2B, ITGB3, VWF
18cell-matrix adhesionGO:00071609.0FGA, ITGA2, ITGA2B, ITGB3
19platelet aggregationGO:00705278.8FGA, GP1BA, ITGA2B, ITGB3, MYH9
20extracellular matrix organizationGO:00301988.8FGA, ITGA2, ITGA2B, ITGB3, VWF
21cell adhesionGO:00071558.1GP1BA, GP1BB, GP5, GP9, ITGA2, ITGA2B
22platelet activationGO:00301687.8F2, F2R, GP1BA, GP1BB, GP5, GP6
23blood 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
1collagen bindingGO:00055189.7GP6, ITGA2, VWF
2extracellular matrix bindingGO:00508409.6ITGA2B, ITGB3

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