BSSA2
MCID: BRN111
MIFTS: 19

Bernard-Soulier Syndrome, Type A2 (BSSA2) malady

Categories: Genetic diseases, Blood diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2

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

Name: Bernard-Soulier Syndrome, Type A2 54 13
Bernard-Soulier Syndrome A2, Autosomal Dominant 66 29
Bssa2 12 66
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 69
Autosomal Dominant Benign Bernard-Soulier Syndrome 66
Benign Mediterranean Macrothrombocytopenia 66
Bernard-Soulier Syndrome Type A2 12

Characteristics:

HPO:

32
bernard-soulier syndrome, type a2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 153670
Disease Ontology 12 DOID:0111059
MeSH 42 D001606

Summaries for Bernard-Soulier Syndrome, Type A2

UniProtKB/Swiss-Prot : 66 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 splenomegaly, hemolytic anemia and epistaxis. An important gene associated with Bernard-Soulier Syndrome, Type A2 is GP1BA (Glycoprotein Ib Platelet Alpha Subunit).

Disease Ontology : 12 A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.

Description from OMIM: 153670

Related Diseases for Bernard-Soulier Syndrome, Type A2

Symptoms & Phenotypes for Bernard-Soulier Syndrome, Type A2

Symptoms by clinical synopsis from OMIM:

153670

Clinical features from OMIM:

153670

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

32 (show all 10)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hemolytic anemia 32 HP:0001878
3 epistaxis 32 HP:0000421
4 bruising susceptibility 32 HP:0000978
5 gingival bleeding 32 HP:0000225
6 petechiae 32 HP:0000967
7 menorrhagia 32 HP:0000132
8 stomatocytosis 32 HP:0004446
9 prolonged bleeding after dental extraction 32 HP:0006298
10 increased mean platelet volume 32 HP:0011877

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type A2

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

Genetic Tests for Bernard-Soulier Syndrome, Type A2

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

id Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 29

Anatomical Context for Bernard-Soulier Syndrome, Type A2

Publications for Bernard-Soulier Syndrome, Type A2

Variations for Bernard-Soulier Syndrome, Type A2

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

66
id Symbol AA change Variation ID SNP ID
1 GP1BA p.Ala172Val VAR_005258 rs121908065

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GP1BA NM_000173.6(GP1BA): c.217C> T (p.Leu73Phe) single nucleotide variant Pathogenic rs121908063 GRCh37 Chromosome 17, 4836116: 4836116
2 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh37 Chromosome 17, 4836414: 4836414

Expression for Bernard-Soulier Syndrome, Type A2

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

Pathways for Bernard-Soulier Syndrome, Type A2

GO Terms for Bernard-Soulier Syndrome, Type A2

Sources for Bernard-Soulier Syndrome, Type A2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
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54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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