MCID: BRN111
MIFTS: 18

Bernard-Soulier Syndrome, Type A2 malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2

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Aliases & Descriptions for Bernard-Soulier Syndrome, Type A2:

Name: Bernard-Soulier Syndrome, Type A2 51 12
Bernard-Soulier Syndrome A2, Autosomal Dominant 69 26
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 67
 
Autosomal Dominant Benign Bernard-Soulier Syndrome 69
Benign Mediterranean Macrothrombocytopenia 69
Bssa2 69

Characteristics:

HPO:

63
bernard-soulier syndrome, type a2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM51 153670
MeSH38 D001606

Summaries for Bernard-Soulier Syndrome, Type A2

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UniProtKB/Swiss-Prot:69 Bernard-Soulier syndrome A2, autosomal dominant: A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery.

MalaCards based summary: Bernard-Soulier Syndrome, Type A2, is also known as bernard-soulier syndrome a2, autosomal dominant, and has symptoms including menorrhagia, gingival bleeding and epistaxis. An important gene associated with Bernard-Soulier Syndrome, Type A2 is GP1BA (Glycoprotein Ib Platelet Alpha Subunit).

Description from OMIM:51 153670

Related Diseases for Bernard-Soulier Syndrome, Type A2

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Symptoms for Bernard-Soulier Syndrome, Type A2

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Symptoms by clinical synopsis from OMIM:

153670

Clinical features from OMIM:

153670

Human phenotypes related to Bernard-Soulier Syndrome, Type A2:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 menorrhagia63 HP:0000132
2 gingival bleeding63 HP:0000225
3 epistaxis63 HP:0000421
4 petechiae63 HP:0000967
5 bruising susceptibility63 HP:0000978
6 splenomegaly63 HP:0001744
7 hemolytic anemia63 HP:0001878
8 stomatocytosis63 HP:0004446
9 prolonged bleeding after dental extraction63 HP:0006298
10 increased mean platelet volume63 HP:0011877

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type A2

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Bernard-Soulier Syndrome, Type A2

Genetic Tests for Bernard-Soulier Syndrome, Type A2

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Genetic tests related to Bernard-Soulier Syndrome, Type A2:

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant26

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:

69
id Symbol AA change Variation ID SNP ID
1GP1BAp.Ala172ValVAR_005258rs121908065

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1GP1BANM_000173.6(GP1BA): c.217C> T (p.Leu73Phe)SNVPathogenicrs121908063GRCh37Chr 17, 4836116: 4836116
2GP1BANM_000173.6(GP1BA): c.515C> T (p.Ala172Val)SNVPathogenicrs121908065GRCh37Chr 17, 4836414: 4836414

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

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Search GEO for disease gene expression data for Bernard-Soulier Syndrome, Type A2.

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

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

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Sources for Bernard-Soulier Syndrome, Type A2

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet