MCID: BRN111
MIFTS: 31

Bernard-Soulier Syndrome, Type A2 malady

Genetic diseases, Blood diseases, Rare diseases categories

Summaries for Bernard-Soulier Syndrome, Type A2

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48OMIM, 34MalaCards
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MalaCards: Bernard-Soulier Syndrome, Type A2, also known as bernard-soulier syndrome, is related to bernard-soulier syndrome and thrombocytopenia. An important gene associated with Bernard-Soulier Syndrome, Type A2 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.

Description from OMIM:48 153670,231200

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2

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50Orphanet, 63UMLS, 48OMIM, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
bernard-soulier syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

bernard-soulier syndrome, type a2 48
bernard-soulier syndrome 50 63
hemorrhagiparous thrombocytic dystrophy 50
giant platelet syndrome 50


External Ids:

MESH via Orphanet37 D001606
ICD10 via Orphanet27 D69.1
SNOMED-CT via Orphanet60 54569005
UMLS via Orphanet64 C0005129

Related Diseases for Bernard-Soulier Syndrome, Type A2

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Bernard-Soulier Syndrome, Type A2:



Diseases related to bernard-soulier syndrome, type a2

Symptoms for Bernard-Soulier Syndrome, Type A2

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48OMIM
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Symptoms by clinical synopsis from OMIM:

153670

Clinical features from OMIM:

153670,231200

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type A2

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Genetic Tests for Bernard-Soulier Syndrome, Type A2

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Anatomical Context for Bernard-Soulier Syndrome, Type A2

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Animal Models for Bernard-Soulier Syndrome, Type A2 or affiliated genes

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Publications for Bernard-Soulier Syndrome, Type A2

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Variations for Bernard-Soulier Syndrome, Type A2

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Bernard-Soulier Syndrome, Type A2:

65
id Symbol AA change Variation ID SNP ID
1GP1BAp.Ala172ValVAR_005258

Clinvar genetic disease variations for Bernard-Soulier Syndrome, Type A2:

1
id Gene Name 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 A2

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Bernard-Soulier Syndrome, Type A2

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Pathways for genes affiliated with Bernard-Soulier Syndrome, Type A2

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51PathCards, 52PharmGKB, 31KEGG, 54QIAGEN, 39NCBI BioSystems Database, 56Reactome, 55R&D Systems
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Compounds for genes affiliated with Bernard-Soulier Syndrome, Type A2

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46Novoseek, 30IUPHAR, 3BitterDB, 52PharmGKB, 12DrugBank, 25HMDB
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Compounds related to Bernard-Soulier Syndrome, Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1quinine46 30 3 52 1213.5GP1BA, GP9
2asparagine469.4GP1BA, GP9
3fibrinogen469.3GP1BA, GP9
4adp46 30 2511.3GP1BA, GP9
5aspartate469.0GP1BB, GP9
6threonine469.0GP1BA, GP9
7ristocetin468.7GP1BA, GP1BB, GP9
8serine468.6GP9, GP1BB, GP1BA

GO Terms for genes affiliated with Bernard-Soulier Syndrome, Type A2

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17Gene Ontology
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Cellular components related to Bernard-Soulier Syndrome, Type A2 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 A2 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell surface receptor signaling pathwayGO:0071669.0GP1BA, 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 A2

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Sources for Bernard-Soulier Syndrome, Type A2

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet