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 50 12
Bernard-Soulier Syndrome A2, Autosomal Dominant 68 25
Autosomal Dominant Benign Bernard-Soulier Syndrome 68
 
Benign Mediterranean Macrothrombocytopenia 68
Bssa2 68

Characteristics:

HPO:

62
bernard-soulier syndrome, type a2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 153670
MeSH37 D001606

Summaries for Bernard-Soulier Syndrome, Type A2

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UniProtKB/Swiss-Prot:68 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:50 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

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

(show all 10)
id Description Frequency HPO Source Accession
1 menorrhagia HP:0000132
2 gingival bleeding HP:0000225
3 epistaxis HP:0000421
4 petechiae HP:0000967
5 bruising susceptibility HP:0000978
6 splenomegaly HP:0001744
7 hemolytic anemia HP:0001878
8 stomatocytosis HP:0004446
9 prolonged bleeding after dental extraction HP:0006298
10 increased mean platelet volume 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 Dominant25

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:

68
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)single nucleotide variantPathogenicrs121908063GRCh37Chr 17, 4836116: 4836116
2GP1BANM_000173.6(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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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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet