MCID: BRN111
MIFTS: 18

Bernard-Soulier Syndrome, Type A2 malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2

About this section

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

Name: Bernard-Soulier Syndrome, Type A2 52 12
Bernard-Soulier Syndrome A2, Autosomal Dominant 70 27
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 68
 
Autosomal Dominant Benign Bernard-Soulier Syndrome 70
Benign Mediterranean Macrothrombocytopenia 70
Bssa2 70

Characteristics:

HPO:

64
bernard-soulier syndrome, type a2:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 153670
MeSH39 D001606

Summaries for Bernard-Soulier Syndrome, Type A2

About this section
UniProtKB/Swiss-Prot:70 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:52 153670

Related Diseases for Bernard-Soulier Syndrome, Type A2

About this section

Symptoms & Phenotypes for Bernard-Soulier Syndrome, Type A2

About this section

Symptoms by clinical synopsis from OMIM:

153670

Clinical features from OMIM:

153670

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

 64 (show all 10)
id Description HPO Frequency HPO Source Accession
1 menorrhagia64 HP:0000132
2 gingival bleeding64 HP:0000225
3 epistaxis64 HP:0000421
4 petechiae64 HP:0000967
5 bruising susceptibility64 HP:0000978
6 splenomegaly64 HP:0001744
7 hemolytic anemia64 HP:0001878
8 stomatocytosis64 HP:0004446
9 prolonged bleeding after dental extraction64 HP:0006298
10 increased mean platelet volume64 HP:0011877

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type A2

About this section

Interventional clinical trials:

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

Genetic Tests for Bernard-Soulier Syndrome, Type A2

About this section

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

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant27

Anatomical Context for Bernard-Soulier Syndrome, Type A2

About this section

Publications for Bernard-Soulier Syndrome, Type A2

About this section

Variations for Bernard-Soulier Syndrome, Type A2

About this section

UniProtKB/Swiss-Prot genetic disease variations for Bernard-Soulier Syndrome, Type A2:

70
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

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

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

About this section

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

About this section

Sources for Bernard-Soulier Syndrome, Type A2

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet