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

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

Name: Bernard-Soulier Syndrome, Type C 54
Bernard-Soulier Syndrome 12 50 25 56 66 52 42 14 69
Giant Platelet Syndrome 12 50 25 56
Von Willebrand Factor Receptor Deficiency 50 25 66
Deficiency of Platelet Glycoprotein 1b 50 25 69
Bernard-Soulier Syndrome Type B 24 66 29
Bernard-Soulier Syndrome Type C 24 66 29
Giant Platelet Disease 50 66 29
Bss 50 25 66
Macrothrombocytopenia, Familial Bernard-Soulier Type 50 25
Hemorrhagiparous Thrombocytic Dystrophy 50 56
Platelet Glycoprotein Ib Deficiency 25 66
Bernard-Soulier Syndrome, Type A1 54 13
Bernard Soulier Syndrome 12 29
Bdplt1 25 66
Glycoprotein Ib, Platelet, Deficiency of 25
Hemorrhagioparous Thrombocytic Dystrophy 25
Hemorrhagic Dystrophic Thrombocytopenia 12
Platelet Glycoprotein 1b, Deficiency of 50
Gp9-Related Giant Platelet Syndrome 24
Bleeding Disorder, Platelet-Type, 1 25
Giant Platelet Disorder, Isolated 54
Bleeding Disorder Platelet-Type 1 66
Bernard-Soulier Syndrome, Type B 54
Bernard-Soulier Syndrome Type A1 66
Bernard - Soulier Thrombopathy 12
Thrombopathy, Bernard-Soulier 12
Gp1bb-Giant Platelet Syndrome 24
Gpd 66

Characteristics:

Orphanet epidemiological data:

56
bernard-soulier syndrome
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
bernard-soulier syndrome, type c:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 231200
Disease Ontology 12 DOID:2217
MeSH 42 D001606
NCIt 47 C84595
Orphanet 56 ORPHA274
MESH via Orphanet 43 D001606
UMLS via Orphanet 70 C0005129
ICD10 via Orphanet 34 D69.1
UMLS 69 C0005129

Summaries for Bernard-Soulier Syndrome, Type C

OMIM : 54 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 abnormal bleeding, thrombocytopenia and purpura. An important gene associated with Bernard-Soulier Syndrome, Type C is GP9 (Glycoprotein IX Platelet), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Integrin Pathway. Affiliated tissues include skin, and related phenotypes are hematopoietic system and homeostasis/metabolism

Disease Ontology : 12 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 : 66 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

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

(show top 50) (show all 83)
id Related Disease Score Top Affiliating Genes
1 myocardial infarction 28.5 F2 F2R FGA GP1BA GP6 ITGA2
2 bernard-soulier syndrome, type a2 12.6
3 bernard-soulier syndrome type a 12.2
4 medich giant platelet syndrome 11.9
5 camptocormism 11.2
6 brooke-spiegler syndrome 11.0
7 brown-sequard syndrome 11.0
8 bleeding disorder, platelet-type, 17 10.8
9 barber-say syndrome 10.8
10 thrombasthenia 10.6
11 von willebrand's disease 10.4
12 thrombocytopenia 10.3
13 angiodysplasia 10.3
14 trismus-pseudocamptodactyly syndrome 10.3 GP1BA VWF
15 vcl-related dilated cardiomyopathy 10.3 GP1BA VWF
16 glanzmann thrombasthenia 10.3
17 acromegaloid hypertrichosis syndrome 10.3 GP1BA VWF
18 cytokine receptor deficiency 10.2 GP1BA THPO
19 atherosclerosis 10.2
20 hematopoietic stem cell transplantation 10.2
21 hepatitis 10.2
22 myeloid leukemia 10.2
23 leukemia 10.2
24 prostatic hypertrophy 10.1 F2 VWF
25 ischemic fasciitis 10.1 F2 ITGA2
26 interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital 10.1 ITGA2B ITGB3
27 small intestinal l-cell glucagon-like peptide producing tumor 10.1 F2 VWF
28 cataract 17, multiple types 10.1 GP1BA GP1BB GP9
29 fiedler's myocarditis 10.1 F2 THPO VWF
30 catecholaminergic polymorphic ventricular tachycardia 5 10.1 GP1BA MYH9 NBEAL2
31 cervix small cell carcinoma 10.1 F2 ITGA2B VWF
32 ovarian mesodermal adenosarcoma 10.1 GP5 GP6
33 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.1 F2 ITGB3
34 alpha-2-macroglobulin deficiency 10.1 F2 GP6 VWF
35 membranoproliferative glomerulonephritis 10.0 F2 ITGA2B THPO VWF
36 villous adenoma 10.0 F2 GP1BA ITGB3
37 autoimmune disease of central nervous system 10.0 F2 GP1BA ITGB3
38 stt3a-cdg and stt3b-cdg 10.0 GP6 ITGB3
39 purpura 10.0
40 hermansky-pudlak syndrome 10.0
41 vasculitis 10.0
42 drug dependence 10.0
43 polymicrogyria 10.0
44 thrombosis 10.0
45 aquagenic urticaria 10.0
46 urticaria 10.0
47 breast cancer 10.0
48 hepatitis c 10.0
49 autosomal dominant macrothrombocytopenia 10.0
50 gaucher's disease 10.0

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

Symptoms by clinical synopsis from OMIM:

231200

Clinical features from OMIM:

231200

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

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 abnormal bleeding 32 HP:0001892
2 thrombocytopenia 32 HP:0001873
3 purpura 32 HP:0000979
4 epistaxis 32 HP:0000421
5 prolonged bleeding time 32 HP:0003010
6 menorrhagia 32 HP:0000132
7 abnormality of abdomen morphology 32 HP:0001438
8 increased mean platelet volume 32 HP:0011877

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

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 GP9 ITGA2 ITGA2B ITGB3 MYH9 NBEAL2
2 homeostasis/metabolism MP:0005376 9.8 F2 F2R FGA GP1BA GP1BB GP5
3 digestive/alimentary MP:0005381 9.73 F2 F2R FGA ITGA2B ITGB3 VWF
4 immune system MP:0005387 9.32 NBEAL2 THPO VWF F2 F2R FGA

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type C

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

Cochrane evidence based reviews: bernard-soulier syndrome

Genetic Tests for Bernard-Soulier Syndrome, Type C

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

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type B 29
2 Bernard-Soulier Syndrome Type C 29 24 GP9
3 Bernard Soulier Syndrome 29
4 Giant Platelets 29
5 Bernard-Soulier Syndrome Type B 24 GP1BB

Anatomical Context for Bernard-Soulier Syndrome, Type C

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

39
Skin

Publications for Bernard-Soulier Syndrome, Type C

Variations for Bernard-Soulier Syndrome, Type C

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

66 (show all 15)
id Symbol AA change Variation ID SNP ID
1 GP1BA p.Cys81Arg VAR_005256 rs781541857
2 GP1BA p.Ala172Val VAR_005258 rs121908065
3 GP1BA p.Cys225Ser VAR_005260
4 GP1BA p.Leu73Phe VAR_014206 rs121908063
5 GP1BA p.Leu145Pro VAR_014207 rs771048666
6 GP1BB p.Tyr113Cys VAR_025000 rs121909750
7 GP1BB p.Ala133Pro VAR_025001 rs121909751
8 GP9 p.Asp37Gly VAR_005263 rs121918036
9 GP9 p.Asn61Ser VAR_005264 rs5030764
10 GP9 p.Leu7Pro VAR_024996 rs121918038
11 GP9 p.Cys24Arg VAR_024997 rs28933378
12 GP9 p.Leu56Pro VAR_024998 rs28933377
13 GP9 p.Phe71Ser VAR_024999 rs121918037
14 GP9 p.Cys113Tyr VAR_025008
15 GP9 p.Ala156Thr VAR_025009 rs3796130

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

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 GP1BA NM_000173.6(GP1BA): c.1077G> A (p.Trp359Ter) single nucleotide variant Pathogenic rs121908061 GRCh37 Chromosome 17, 4836976: 4836976
2 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh37 Chromosome 17, 4836414: 4836414
3 GP1BA NM_000173.6(GP1BA): c.1620G> A (p.Trp540Ter) single nucleotide variant Pathogenic rs267606849 GRCh37 Chromosome 17, 4837519: 4837519
4 GP9 NM_000174.4(GP9): c.182A> G (p.Asn61Ser) single nucleotide variant Pathogenic/Likely pathogenic rs5030764 GRCh37 Chromosome 3, 128780764: 128780764
5 GP9 NM_000174.4(GP9): c.110A> G (p.Asp37Gly) single nucleotide variant Pathogenic rs121918036 GRCh37 Chromosome 3, 128780692: 128780692
6 GP9 NM_000174.4(GP9): c.212T> C (p.Phe71Ser) single nucleotide variant Pathogenic rs121918037 GRCh37 Chromosome 3, 128780794: 128780794
7 GP9 NM_000174.4(GP9): c.167T> C (p.Leu56Pro) single nucleotide variant Pathogenic rs28933377 GRCh37 Chromosome 3, 128780749: 128780749
8 GP9 NM_000174.4(GP9): c.70T> C (p.Cys24Arg) single nucleotide variant Pathogenic rs28933378 GRCh37 Chromosome 3, 128780652: 128780652
9 GP9 NM_000174.4(GP9): c.20T> C (p.Leu7Pro) single nucleotide variant Pathogenic rs121918038 GRCh37 Chromosome 3, 128780602: 128780602
10 GP1BB NM_000407.4(GP1BB): c.338A> G (p.Tyr113Cys) single nucleotide variant Pathogenic rs121909750 GRCh37 Chromosome 22, 19711704: 19711704
11 GP1BB NM_000407.4(GP1BB): c.397G> C (p.Ala133Pro) single nucleotide variant Pathogenic rs121909751 GRCh37 Chromosome 22, 19711763: 19711763
12 GP1BB NM_000407.4(GP1BB): c.137G> A (p.Trp46Ter) single nucleotide variant Pathogenic rs121909752 GRCh37 Chromosome 22, 19711503: 19711503
13 GP1BB NM_000407.4(GP1BB): c.-160C> G single nucleotide variant Pathogenic rs730882059 GRCh38 Chromosome 22, 19723410: 19723410

Expression for Bernard-Soulier Syndrome, Type C

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

Pathways for Bernard-Soulier Syndrome, Type C

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

(show all 28)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 F2 F2R FGA GP1BA GP1BB GP5
2
Show member pathways
13.25 F2 F2R ITGA2 ITGA2B ITGB3 MYH9
3
Show member pathways
12.75 F2 F2R FGA ITGA2 ITGA2B ITGB3
4
Show member pathways
12.59 FGA ITGA2 ITGA2B ITGB3
5 12.53 F2 F2R ITGA2 ITGA2B ITGB3 MYH9
6 12.48 F2R ITGA2 ITGA2B ITGB3 VWF
7
Show member pathways
12.23 F2 F2R FGA GP1BA GP1BB GP5
8
Show member pathways
12.18 FGA ITGA2B ITGB3 VWF
9 12.15 F2R FGA GP1BA GP1BB GP5 GP6
10
Show member pathways
12.03 FGA GP1BA GP1BB GP5 GP6 GP9
11 12.02 GP1BA GP5 ITGA2 ITGA2B ITGB3 THPO
12 11.99 GP1BA GP1BB GP5 GP9 ITGA2 ITGA2B
13 11.98 F2 F2R FGA VWF
14
Show member pathways
11.96 FGA ITGA2B ITGB3 VWF
15 11.94 ITGA2 ITGA2B ITGB3
16
Show member pathways
11.87 ITGA2 ITGA2B ITGB3
17 11.8 ITGA2 ITGA2B ITGB3
18 11.7 F2 F2R FGA GP1BB GP5 GP6
19 11.69 ITGA2 ITGA2B ITGB3
20
Show member pathways
11.65 F2 FGA GP1BA GP1BB GP5 GP9
21 11.58 ITGA2 ITGA2B ITGB3 THPO
22 11.5 ITGA2 ITGA2B ITGB3
23 11.42 GP9 ITGA2B ITGB3
24 11.06 ITGA2B ITGB3
25 11.02 F2 F2R
26 10.93 ITGA2B ITGB3
27 10.85 GP1BA GP1BB GP5 GP9 VWF
28 10.28 GP1BA GP1BB GP5 GP6 GP9 ITGA2

GO Terms for Bernard-Soulier Syndrome, Type C

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

id Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.97 F2 FGA GP1BA GP5 GP6 ITGA2B
2 plasma membrane GO:0005886 9.97 F2 F2R FGA GP1BA GP1BB GP5
3 integral component of plasma membrane GO:0005887 9.86 F2R GP1BA GP1BB GP5 GP6 GP9
4 focal adhesion GO:0005925 9.76 ITGA2 ITGA2B ITGB3 MYH9
5 external side of plasma membrane GO:0009897 9.67 F2 FGA ITGA2 ITGA2B
6 cell surface GO:0009986 9.5 F2R FGA GP1BA GP6 ITGA2 ITGA2B
7 platelet alpha granule membrane GO:0031092 9.43 ITGA2B ITGB3
8 platelet alpha granule GO:0031091 9.4 FGA VWF
9 integrin complex GO:0008305 8.92 ITGA2 ITGA2B ITGB3 MYH9

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

(show all 25)
id Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.97 GP1BA GP1BB GP5 GP9 ITGA2 ITGA2B
2 blood coagulation GO:0007596 9.9 F2 F2R FGA GP1BA GP1BB GP5
3 leukocyte migration GO:0050900 9.85 F2 GP6 ITGB3 MYH9
4 platelet degranulation GO:0002576 9.84 FGA ITGA2B ITGB3 VWF
5 cell-matrix adhesion GO:0007160 9.81 FGA ITGA2 ITGA2B ITGB3
6 extracellular matrix organization GO:0030198 9.8 FGA ITGA2 ITGA2B ITGB3 VWF
7 positive regulation of protein phosphorylation GO:0001934 9.79 F2 ITGB3 THPO
8 platelet aggregation GO:0070527 9.77 FGA GP1BA ITGA2B ITGB3 MYH9
9 integrin-mediated signaling pathway GO:0007229 9.76 ITGA2 ITGA2B ITGB3 MYH9
10 response to wounding GO:0009611 9.74 F2 F2R VWF
11 blood coagulation, intrinsic pathway GO:0007597 9.73 F2 GP1BA GP1BB GP5 GP9 VWF
12 positive regulation of collagen biosynthetic process GO:0032967 9.7 F2 F2R ITGA2
13 regulation of blood coagulation GO:0030193 9.67 F2 F2R GP1BA
14 fibrinolysis GO:0042730 9.65 F2 FGA GP1BA
15 platelet activation GO:0030168 9.65 F2 F2R FGA GP1BA GP1BB GP5
16 positive regulation of release of sequestered calcium ion into cytosol GO:0051281 9.62 F2 F2R
17 positive regulation of smooth muscle contraction GO:0045987 9.61 F2R ITGA2
18 platelet formation GO:0030220 9.61 MYH9 NBEAL2
19 cell-substrate adhesion GO:0031589 9.61 ITGA2 ITGB3 VWF
20 cell adhesion mediated by integrin GO:0033627 9.6 ITGA2 ITGB3
21 positive regulation of blood coagulation GO:0030194 9.59 F2 F2R
22 positive regulation of leukocyte migration GO:0002687 9.58 ITGA2 ITGA2B
23 mesodermal cell differentiation GO:0048333 9.58 ITGA2 ITGB3
24 thrombin-activated receptor signaling pathway GO:0070493 9.56 F2R GP1BA
25 hemostasis GO:0007599 9.28 F2 F2R FGA GP1BA GP1BB GP5

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

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.16 ITGA2B ITGB3
2 collagen binding GO:0005518 9.13 GP6 ITGA2 VWF
3 thrombin-activated receptor activity GO:0015057 8.62 F2R GP1BA

Sources for Bernard-Soulier Syndrome, Type C

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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