MCID: BRN111
MIFTS: 15

Bernard-Soulier Syndrome, Type A2 malady

Genetic diseases (common) category

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 46 9
 
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 46 22


Classifications:



External Ids:

OMIM46 153670

Summaries for Bernard-Soulier Syndrome, Type A2

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MalaCards based summary: Bernard-Soulier Syndrome, Type A2, is also known as bernard-soulier syndrome, type a2, autosomal dominant, and has symptoms including autosomal dominant inheritance, menorrhagia and gingival bleeding. An important gene associated with Bernard-Soulier Syndrome, Type A2 is GP1BA (glycoprotein Ib (platelet), alpha polypeptide).

Description from OMIM:46 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 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:

Search ClinicalTrials for Bernard-Soulier Syndrome, Type A2

Search 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 Dominant22

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:

63
id Symbol AA change Variation ID SNP ID
1GP1BAp.Ala172ValVAR_005258

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

5
id Gene Variation 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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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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet