MCID: BRN065
MIFTS: 13

Bernard-Soulier Syndrome Type C malady

Summaries for Bernard-Soulier Syndrome Type C

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47OMIM, 33MalaCards
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MalaCards: Bernard-Soulier Syndrome Type C, is also known as bernard-soulier syndrome, type c An important gene associated with Bernard-Soulier Syndrome Type C is GP9 (glycoprotein IX (platelet)).

Description from OMIM:47 231200

Aliases & Classifications for Bernard-Soulier Syndrome Type C

Sources:
20GeneTests, 22GTR, 47OMIM
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Aliases & Descriptions:

bernard-soulier syndrome type c 20 22
bernard-soulier syndrome, type c 47


Related Diseases for Bernard-Soulier Syndrome Type C

Clinical Features for Bernard-Soulier Syndrome Type C

Sources:
47OMIM
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Clinical features from OMIM:

231200

Clinical synopsis from OMIM:

231200

Drugs & Therapeutics for Bernard-Soulier Syndrome Type C

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Bernard-Soulier Syndrome Type C

Drug clinical trials:

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Search NIH Clinical Center for Bernard-Soulier Syndrome Type C

Search CenterWatch for Bernard-Soulier Syndrome Type C

Genetic Tests for Bernard-Soulier Syndrome Type C

Sources:
20GeneTests, 22GTR
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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

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

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28inGenious Targeting Laboratory
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Publications for Bernard-Soulier Syndrome Type C

Sources:
51PubMed
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Articles related to Bernard-Soulier Syndrome Type C:

idTitleAuthorsYear
1
A family with Bolzano-type Bernard-Soulier syndrome carries a benign A1939T MYH9 mutation. (22372535)
2013
2
Variant Bernard-Soulier syndrome type bolzano. A congenital bleeding disorder due to a structural and functional abnormality of the platelet glycoprotein Ib-IX complex. (1694864)
1990

Genetic Variations for Bernard-Soulier Syndrome Type C

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Bernard-Soulier Syndrome Type C:

63 (show all 15)
id Symbol AA change Variation SNP ID
1p.Cys81ArgVAR_005256
2p.Ala172ValVAR_005258
3p.Cys225SerVAR_005260
4p.Leu73PheVAR_014206
5p.Leu145ProVAR_014207
6p.Tyr113CysVAR_025000
7p.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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

Compounds for genes affiliated with Bernard-Soulier Syndrome Type C

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

Products for genes affiliated with Bernard-Soulier Syndrome Type C

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Bernard-Soulier Syndrome Type C

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet