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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MalaCards based summary: Bernard-Soulier Syndrome, Type A2, also known as bernard-soulier syndrome, is related to bernard-soulier syndrome and thrombocytopenia, and has symptoms including 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.

Descriptions from OMIM:46 153670,231200

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2

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Sources:
46OMIM, 48Orphanet, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Bernard-Soulier Syndrome, Type A2, Aliases & Descriptions:

Name: Bernard-Soulier Syndrome, Type A2 46
Bernard-Soulier Syndrome 48 62
 
Giant Platelet Syndrome 48 62
Hemorrhagiparous Thrombocytic Dystrophy 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
bernard-soulier syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Normal


External Ids:

MESH via Orphanet35 D001606
ICD10 via Orphanet26 D69.1
UMLS via Orphanet63 C0005129

Related Diseases for Bernard-Soulier Syndrome, Type A2

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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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Symptoms by clinical synopsis from OMIM:

153670

Clinical features from OMIM:

153670,231200

HPO human phenotypes related to Bernard-Soulier Syndrome, Type A2:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 menorrhagia HP:0000132
3 gingival bleeding HP:0000225
4 epistaxis HP:0000421
5 petechiae HP:0000967
6 bruising susceptibility HP:0000978
7 splenomegaly HP:0001744
8 hemolytic anemia HP:0001878
9 stomatocytosis HP:0004446
10 prolonged bleeding after dental extraction HP:0006298
11 increased mean platelet volume HP:0011877

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type A2

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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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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:

6
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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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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Compounds for genes affiliated with Bernard-Soulier Syndrome, Type A2

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Sources:
44Novoseek, 28IUPHAR, 2BitterDB, 50PharmGKB, 11DrugBank, 24HMDB
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Compounds related to Bernard-Soulier Syndrome, Type A2 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1quinine44 28 2 50 1113.5GP1BA, GP9
2asparagine449.4GP1BA, GP9
3fibrinogen449.3GP1BA, GP9
4adp44 28 2411.3GP1BA, GP9
5aspartate449.0GP1BB, GP9
6threonine449.0GP1BA, GP9
7ristocetin448.7GP1BA, GP1BB, GP9
8serine448.6GP9, GP1BB, GP1BA

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

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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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  • Antibodies
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Sources for Bernard-Soulier Syndrome, Type A2

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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