BSSA2
MCID: BRN132
MIFTS: 35

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

Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases
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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 28 5 38 71
Bssa2 57 11 73
Bernard-Soulier Syndrome Type A2 11 14
Bernard-Soulier Syndrome, Benign Autosomal Dominant 12
Autosomal Dominant Benign Bernard-Soulier Syndrome 73
Bernard-Soulier Syndrome A2, Autosomal Dominant 73
Benign Mediterranean Macrothrombocytopenia 73
Bernard-Soulier Syndrome, Type A2 57

Characteristics:


Inheritance:

Autosomal dominant 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0111059
OMIM® 57 153670
MeSH 43 D001606
UMLS 71 C3277076

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

UniProtKB/Swiss-Prot: 73 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, also known as bssa2, is related to glanzmann thrombasthenia 1 and hemophilia b, 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 skin, and related phenotypes are splenomegaly and hemolytic anemia

Disease Ontology: 11 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

Graphical network of the top 20 diseases related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant:



Diseases related to 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:

30 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 30 HP:0001744
2 hemolytic anemia 30 HP:0001878
3 epistaxis 30 HP:0000421
4 gingival bleeding 30 HP:0000225
5 petechiae 30 HP:0000967
6 bruising susceptibility 30 HP:0000978
7 ecchymosis 30 HP:0031364
8 menorrhagia 30 HP:0000132
9 stomatocytosis 30 HP:0004446
10 prolonged bleeding after dental extraction 30 HP:0006298
11 increased mean platelet volume 30 HP:0011877

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 08-Dec-2022)

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


petechiae of skin

MGI Mouse Phenotypes related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.02 GFI1B GP1BA HPS4 HPS6 TUBB1

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 28 GP1BA

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

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

MalaCards : Neutrophil, Skin

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 5
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. 57 5
1730088 1992
3
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
4
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
5
Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia. 5
30908598 2019
6
A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia. 5
29082515 2018
7
Identification of a homozygous single base pair deletion in the gene coding for the human platelet glycoprotein Ib alpha causing Bernard-Soulier syndrome. 5
7855797 1994
8
Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. 5
7690774 1993

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

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

5 (show all 21)
# 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.58T>G (p.Cys20Gly) SNV Pathogenic
1677261 GRCh37: 17:4835957-4835957
GRCh38: 17:4932662-4932662
4 GP1BA NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs) DEL Pathogenic
988865 rs773663190 GRCh37: 17:4837172-4837173
GRCh38: 17:4933877-4933878
5 GP1BA NM_000173.7(GP1BA):c.344T>C (p.Leu115Pro) SNV Pathogenic
626958 rs1597638598 GRCh37: 17:4836243-4836243
GRCh38: 17:4932948-4932948
6 GP1BA NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser) SNV Likely Pathogenic
435347 rs1394634674 GRCh37: 17:4836572-4836572
GRCh38: 17:4933277-4933277
7 GP1BA NM_000173.7(GP1BA):c.449A>G (p.Asn150Ser) SNV Likely Pathogenic
627076 rs1597638745 GRCh37: 17:4836348-4836348
GRCh38: 17:4933053-4933053
8 GP1BA NM_000173.7(GP1BA):c.137C>T (p.Pro46Leu) SNV Likely Pathogenic
1679418 GRCh37: 17:4836036-4836036
GRCh38: 17:4932741-4932741
9 GP1BA NM_000173.7(GP1BA):c.1480del (p.Thr494fs) DEL Likely Pathogenic
1691251 GRCh37: 17:4837373-4837373
GRCh38: 17:4934078-4934078
10 GP1BA NM_000173.7(GP1BA):c.169A>G (p.Asn57Asp) SNV Likely Pathogenic
1676741 GRCh37: 17:4836068-4836068
GRCh38: 17:4932773-4932773
11 GP1BA NM_000173.7(GP1BA):c.98G>A (p.Cys33Tyr) SNV Likely Pathogenic
1684403 GRCh37: 17:4835997-4835997
GRCh38: 17:4932702-4932702
12 GP1BA NM_000173.7(GP1BA):c.247C>T (p.Leu83Phe) SNV Likely Pathogenic
1677265 GRCh37: 17:4836146-4836146
GRCh38: 17:4932851-4932851
13 GP1BA NM_000173.7(GP1BA):c.1601_1602del (p.Tyr534fs) DEL Likely Pathogenic
872581 rs763978422 GRCh37: 17:4837499-4837500
GRCh38: 17:4934204-4934205
14 GP1BA NM_000173.7(GP1BA):c.191T>C (p.Leu64Pro) SNV Uncertain Significance
1684363 GRCh37: 17:4836090-4836090
GRCh38: 17:4932795-4932795
15 GP1BA NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) SNV Uncertain Significance
417940 rs13306411 GRCh37: 17:4836155-4836155
GRCh38: 17:4932860-4932860
16 GP1BA NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) SNV Uncertain Significance
1285165 GRCh37: 17:4836105-4836105
GRCh38: 17:4932810-4932810
17 GP1BA NM_000173.7(GP1BA):c.520A>G (p.Asn174Asp) SNV Uncertain Significance
1703854 GRCh37: 17:4836419-4836419
GRCh38: 17:4933124-4933124
18 GP1BA NM_000173.7(GP1BA):c.1108A>G (p.Ile370Val) SNV Uncertain Significance
1703855 GRCh37: 17:4837007-4837007
GRCh38: 17:4933712-4933712
19 GP1BA NM_000173.7(GP1BA):c.334G>C (p.Gly112Arg) SNV Uncertain Significance
1703856 GRCh37: 17:4836233-4836233
GRCh38: 17:4932938-4932938
20 GP1BA NM_000173.7(GP1BA):c.463C>G (p.Leu155Val) SNV Uncertain Significance
1677264 GRCh37: 17:4836362-4836362
GRCh38: 17:4933067-4933067
21 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:

73
# 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

Biological processes related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular transport GO:0046907 9.73 HPS6 HPS4
2 platelet dense granule organization GO:0060155 9.62 HPS6 HPS4
3 platelet aggregation GO:0070527 9.58 TUBB1 GP1BA
4 hemostasis GO:0007599 9.54 HPS4 GP1BA
5 melanosome assembly GO:1903232 9.46 HPS6 HPS4
6 melanocyte differentiation GO:0030318 9.43 HPS6 HPS4
7 organelle organization GO:0006996 9.13 HPS6 HPS4
8 blood coagulation GO:0007596 9.1 HPS6 HPS4 GP1BA

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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