MCID: BRN065
MIFTS: 30

Bernard-Soulier Syndrome Type C malady

Genetic diseases (common) category
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Summaries for Bernard-Soulier Syndrome Type C

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MalaCards based summary: Bernard-Soulier Syndrome Type C, also known as bernard-soulier syndrome, type c, is related to blood platelet disease and factor v leiden thrombophilia, and has symptoms including An important gene associated with Bernard-Soulier Syndrome Type C is GP9 (glycoprotein IX (platelet)), and among its related pathways are Platelet Aggregation Inhibitor Pathway, Pharmacodynamics and Hematopoietic cell lineage. The compounds aspartate and quinine have been mentioned in the context of this disorder.

Description from OMIM:46 231200

Aliases & Classifications for Bernard-Soulier Syndrome Type C

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Bernard-Soulier Syndrome Type C, Aliases & Descriptions:

Name: Bernard-Soulier Syndrome Type C 20 22
 
Bernard-Soulier Syndrome, Type C 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1blood platelet disease9.6GP9, GP1BB, GP1BA
2factor v leiden thrombophilia9.6GP1BA, GP1BB, GP9
3bernard-soulier syndrome9.6GP1BA, GP1BB, GP9
4thrombocytopenia9.5GP1BA, GP1BB, GP9

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 C20 22 GP9

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:

64 (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

Expression for genes affiliated with Bernard-Soulier Syndrome Type C

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Expression patterns in normal tissues for genes affiliated with Bernard-Soulier Syndrome Type C

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:
44Novoseek, 28IUPHAR, 2BitterDB, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Bernard-Soulier Syndrome Type C according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1aspartate449.2GP1BB, GP9
2quinine44 28 2 50 1113.2GP1BA, GP9
3asparagine449.1GP1BA, GP9
4fibrinogen449.0GP1BA, GP9
5adp44 28 2411.0GP1BA, GP9
6threonine448.7GP1BA, GP9
7ristocetin448.7GP1BA, GP1BB, GP9
8serine448.6GP9, 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/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1plasma membraneGO:0058868.5GP1BA, GP1BB, GP9
2integral component of plasma membraneGO:0058878.2GP1BA, GP1BB, GP9

Biological processes related to Bernard-Soulier Syndrome Type C according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surface receptor signaling pathwayGO:0071669.1GP1BA, GP1BB
2blood coagulation, intrinsic pathwayGO:0075978.6GP1BA, GP1BB, GP9
3platelet activationGO:0301688.5GP1BA, GP1BB, GP9
4cell adhesionGO:0071558.4GP9, GP1BB, GP1BA
5blood coagulationGO:0075968.2GP1BA, GP1BB, GP9

Products for genes affiliated with Bernard-Soulier Syndrome Type C

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  • Antibodies
  • Proteins
  • Lysates

Sources for Bernard-Soulier Syndrome Type C

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet