BSSA2
MCID: BRN132
MIFTS: 23

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant (BSSA2)

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

MalaCards integrated aliases for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant:

Name: Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 57 29 6 39 70
Bssa2 57 12 72
Bernard-Soulier Syndrome, Type A2 57 13
Autosomal Dominant Benign Bernard-Soulier Syndrome 72
Bernard-Soulier Syndrome A2, Autosomal Dominant 72
Benign Mediterranean Macrothrombocytopenia 72
Bernard-Soulier Syndrome Type A2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
bernard-soulier syndrome, type a2, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

UniProtKB/Swiss-Prot : 72 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, Autosomal Dominant, is also known as bssa2, and has symptoms including petechiae of skin An important gene associated with Bernard-Soulier Syndrome, Type A2, Autosomal Dominant is GP1BA (Glycoprotein Ib Platelet Subunit Alpha). Affiliated tissues include neutrophil, and related phenotypes are splenomegaly and hemolytic anemia

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.

More information from OMIM: 153670

Related Diseases for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

Symptoms & Phenotypes for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hemolytic anemia 31 HP:0001878
3 epistaxis 31 HP:0000421
4 gingival bleeding 31 HP:0000225
5 petechiae 31 HP:0000967
6 bruising susceptibility 31 HP:0000978
7 stomatocytosis 31 HP:0004446
8 menorrhagia 31 HP:0000132
9 prolonged bleeding after dental extraction 31 HP:0006298
10 increased mean platelet volume 31 HP:0011877
11 ecchymosis 31 HP:0031364

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Hematology:
hemolytic anemia
large platelets
asymptomatic bleeding tendencies (petechiae, epistaxis, mucosal bleeding)
erythrocyte stomatocytes
absent neutrophil inclusions

Head And Neck Mouth:
gingival bleeding

Head And Neck Teeth:
prolonged bleeding after dental extraction

Genitourinary Internal Genitalia Female:
prolonged menstrual periods

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
petechiae
ecchymoses

Abdomen Spleen:
mild splenomegaly

Laboratory Abnormalities:
low-normal platelet count (89-290 x 10(9)/l)
mean platelet volume (mpv) 12.6fl
normal platelet aggregation studies with adp, collagen, and ristocetin

Clinical features from OMIM®:

153670 (Updated 05-Apr-2021)

UMLS symptoms related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant:


petechiae of skin

Drugs & Therapeutics for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

Genetic Tests for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

# Genetic test Affiliating Genes
1 Bernard-Soulier Syndrome, Type A2, Autosomal Dominant 29 GP1BA

Anatomical Context for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

MalaCards organs/tissues related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant:

40
Neutrophil

Publications for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

Articles related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant:

# Title Authors PMID Year
1
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 57 6
11222377 2001
2
Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease. 6 57
1730088 1992
3
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. 6
7690774 1993

Variations for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP1BA NM_000173.7(GP1BA):c.217C>T (p.Leu73Phe) SNV Pathogenic 4154 rs121908063 GRCh37: 17:4836116-4836116
GRCh38: 17:4932821-4932821
2 GP1BA NM_000173.7(GP1BA):c.515C>T (p.Ala172Val) SNV Pathogenic 4156 rs121908065 GRCh37: 17:4836414-4836414
GRCh38: 17:4933119-4933119
3 GP1BA NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) SNV Uncertain significance 417940 rs13306411 GRCh37: 17:4836155-4836155
GRCh38: 17:4932860-4932860
4 GP1BA NM_000173.7(GP1BA):c.92T>C (p.Val31Ala) SNV not provided 585094 rs201827537 GRCh37: 17:4835991-4835991
GRCh38: 17:4932696-4932696

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

72
# Symbol AA change Variation ID SNP ID
1 GP1BA p.Ala172Val VAR_005258 rs121908065

Expression for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

Pathways for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

GO Terms for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

Sources for Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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