BSSA2
MCID: BRN132
MIFTS: 22

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 40 73
Bssa2 57 12 75
Bernard-Soulier Syndrome, Type A2 57 13
Autosomal Dominant Benign Bernard-Soulier Syndrome 75
Bernard-Soulier Syndrome A2, Autosomal Dominant 75
Benign Mediterranean Macrothrombocytopenia 75
Bernard-Soulier Syndrome Type A2 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

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


Classifications:



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

UniProtKB/Swiss-Prot : 75 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 skin and 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.

Description 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 11)
# 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 ecchymosis 32 HP:0031364
11 increased mean platelet volume 32 HP:0011877

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:

41
Skin, Neutrophil

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 GP1BA p.Ala172Val VAR_005258 rs121908065

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

6
# 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.217C> T (p.Leu73Phe) single nucleotide variant Pathogenic rs121908063 GRCh38 Chromosome 17, 4932821: 4932821
3 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh37 Chromosome 17, 4836414: 4836414
4 GP1BA NM_000173.6(GP1BA): c.515C> T (p.Ala172Val) single nucleotide variant Pathogenic rs121908065 GRCh38 Chromosome 17, 4933119: 4933119
5 GP1BA NM_000173.6(GP1BA): c.256C> T (p.Leu86Phe) single nucleotide variant Likely benign rs13306411 GRCh38 Chromosome 17, 4932860: 4932860
6 GP1BA NM_000173.6(GP1BA): c.256C> T (p.Leu86Phe) single nucleotide variant Likely benign rs13306411 GRCh37 Chromosome 17, 4836155: 4836155
7 GP1BA NM_000173.6(GP1BA): c.92T> C (p.Val31Ala) single nucleotide variant not provided rs201827537 GRCh38 Chromosome 17, 4932696: 4932696
8 GP1BA NM_000173.6(GP1BA): c.92T> C (p.Val31Ala) single nucleotide variant not provided rs201827537 GRCh37 Chromosome 17, 4835991: 4835991

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

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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