MCID: BRN082
MIFTS: 42

Bernard-Soulier Syndrome, Type C malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Bernard-Soulier Syndrome, Type C

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OMIM:45 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 thrombocytopenia and thrombasthenia, and has symptoms including autosomal recessive inheritance, menorrhagia and epistaxis. An important gene associated with Bernard-Soulier Syndrome, Type C is GP1BA (glycoprotein Ib (platelet), alpha polypeptide), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Focal adhesion. The compounds quinine and asparagine have been mentioned in the context of this disorder.

Aliases & Classifications for Bernard-Soulier Syndrome, Type C

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Sources:
45OMIM, 20GeneTests, 22GTR, 9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 10diseasecard, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

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

Name: Bernard-Soulier Syndrome, Type C 45 20 22
Bernard-Soulier Syndrome 45 9 41 11 43 47 60
Bernard-Soulier Syndrome, Type B 45 20 22
Giant Platelet Syndrome 9 41 47
Hemorrhagiparous Thrombocytic Dystrophy 41 47
Deficiency of Platelet Glycoprotein 1b 41 60
Bernard-Soulier Syndrome, Type A1 45 10
Bernard Soulier Syndrome 9 22
Macrothrombocytopenia, Familial Bernard-Soulier Type 41
 
Von Willebrand Factor Receptor Deficiency 41
Platelet Glycoprotein 1b, Deficiency of 41
Hemorrhagic Dystrophic Thrombocytopenia 9
Giant Platelet Disorder, Isolated 45
Bernard - Soulier Thrombopathy 9
Thrombopathy, Bernard-Soulier 9
Giant Platelet Disease 41
Bss 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

47
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:

OMIM45 231200
Disease Ontology9 DOID:2217
MeSH33 D001606
NCIt38 C84595
Orphanet47 274
MESH via Orphanet34 D001606
ICD10 via Orphanet26 D69.1
UMLS via Orphanet61 C0005129

Related Diseases for Bernard-Soulier Syndrome, Type C

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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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Drug clinical trials:

Search ClinicalTrials for Bernard-Soulier Syndrome, Type C

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

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 B20 22 GP1BB
2 Bernard-Soulier Syndrome Type C20 22 GP9
3 Bernard-Soulier Syndrome, Type B22
4 Bernard Soulier Syndrome22

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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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:

62 (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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1GP1BANM_000173.5(GP1BA): c.217C> T (p.Leu73Phe)single nucleotide variantPathogenicrs121908063GRCh37Chr 17, 4836116: 4836116
2GP1BANM_000173.5(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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Compounds for genes affiliated with Bernard-Soulier Syndrome, Type C

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Sources:
43Novoseek, 28IUPHAR, 2BitterDB, 49PharmGKB, 12DrugBank, 24HMDB
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Compounds related to Bernard-Soulier Syndrome, Type C according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1quinine43 28 2 49 1213.5GP1BA, GP9
2asparagine439.4GP1BA, GP9
3fibrinogen439.3GP1BA, GP9
4adp43 28 2411.3GP1BA, GP9
5aspartate439.0GP1BB, GP9
6threonine439.0GP1BA, GP9
7ristocetin438.7GP1BA, GP1BB, GP9
8serine438.6GP9, GP1BB, GP1BA

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
1plasma membraneGO:00058868.5GP1BA, GP1BB, GP9
2integral component of plasma membraneGO:00058878.2GP1BA, GP1BB, GP9

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

idNameGO IDScoreTop Affiliating Genes
1cell surface receptor signaling pathwayGO:00071669.0GP1BA, GP1BB
2blood coagulation, intrinsic pathwayGO:00075978.6GP1BA, GP1BB, GP9
3platelet activationGO:00301688.5GP1BA, GP1BB, GP9
4cell adhesionGO:00071558.4GP9, GP1BB, GP1BA
5blood coagulationGO:00075968.2GP1BA, GP1BB, GP9

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

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Sources for Bernard-Soulier Syndrome, Type C

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet