MCID: BRN111
MIFTS: 19

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 49 11
Bernard-Soulier Syndrome A2, Autosomal Dominant 67 24
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 65
 
Autosomal Dominant Benign Bernard-Soulier Syndrome 67
Benign Mediterranean Macrothrombocytopenia 67
Bssa2 67

Characteristics:

HPO:

61
bernard-soulier syndrome, type a2:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 153670
MeSH36 D001606
UMLS65 C3277076

Summaries for Bernard-Soulier Syndrome, Type A2

About this section
UniProtKB/Swiss-Prot:67 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 increased mean platelet volume, prolonged bleeding after dental extraction and stomatocytosis. An important gene associated with Bernard-Soulier Syndrome, Type A2 is GP1BA (Glycoprotein Ib Platelet Alpha Subunit).

Description from OMIM:49 153670

Related Diseases for Bernard-Soulier Syndrome, Type A2

About this section

Symptoms for Bernard-Soulier Syndrome, Type A2

About this section

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 increased mean platelet volume HP:0011877
2 prolonged bleeding after dental extraction HP:0006298
3 stomatocytosis HP:0004446
4 hemolytic anemia HP:0001878
5 splenomegaly HP:0001744
6 bruising susceptibility HP:0000978
7 petechiae HP:0000967
8 epistaxis HP:0000421
9 gingival bleeding HP:0000225
10 menorrhagia HP:0000132

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

Anatomical Context for Bernard-Soulier Syndrome, Type A2

About this section

Animal Models for Bernard-Soulier Syndrome, Type A2 or affiliated genes

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:

67
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_000173.6(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

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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet