MCID: BRN111
MIFTS: 31

Bernard-Soulier Syndrome, Type A2 malady

Genetic diseases, Blood diseases, Rare diseases categories
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Summaries for Bernard-Soulier Syndrome, Type A2

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47OMIM, 33MalaCards
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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:47 153670,231200

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2

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49Orphanet, 62UMLS, 47OMIM, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS 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):

49
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 47
bernard-soulier syndrome 49 62
hemorrhagiparous thrombocytic dystrophy 49
giant platelet syndrome 49


External Ids:

MESH via Orphanet36 D001606
ICD10 via Orphanet26 D69.1
SNOMED-CT via Orphanet59 54569005
UMLS via Orphanet63 C0005129

Related Diseases for Bernard-Soulier Syndrome, Type A2

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17GeneCards, 18GeneDecks
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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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47OMIM
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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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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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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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64UniProtKB/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:

64
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, 15Gene 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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50PathCards, 51PharmGKB, 30KEGG, 53QIAGEN, 38NCBI BioSystems Database, 55Reactome, 54R&D Systems
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Compounds for genes affiliated with Bernard-Soulier Syndrome, Type A2

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45Novoseek, 29IUPHAR, 3BitterDB, 51PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Bernard-Soulier Syndrome, Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1quinine45 29 3 51 1113.5GP1BA, GP9
2asparagine459.4GP1BA, GP9
3fibrinogen459.3GP1BA, GP9
4adp45 29 2411.3GP1BA, GP9
5aspartate459.0GP1BB, GP9
6threonine459.0GP1BA, GP9
7ristocetin458.7GP1BA, GP1BB, GP9
8serine458.6GP9, GP1BB, GP1BA

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

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16Gene 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
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet