Bernard-Soulier Syndrome, Type A2, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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 ⁵⁸ ³⁰ ⁶ ⁴¹ ⁷⁴

Bssa2 ⁵⁸ ¹² ⁷⁶

Bernard-Soulier Syndrome, Type A2 ⁵⁸ ¹³

Autosomal Dominant Benign Bernard-Soulier Syndrome ⁷⁶

Bernard-Soulier Syndrome A2, Autosomal Dominant ⁷⁶

Benign Mediterranean Macrothrombocytopenia ⁷⁶

Bernard-Soulier Syndrome Type A2 ¹²

Characteristics:

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

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

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111059

OMIM ⁵⁸ 153670

MeSH ⁴⁵ D001606

MedGen ⁴³ C2750610 C3277076

SNOMED-CT via HPO ⁷⁰ 12441001 16294009 249366005 more

UMLS ⁷⁴ C3277076

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

UniProtKB/Swiss-Prot : ⁷⁶ 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

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

Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

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

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

³³ (show all 11)

#	Description	HPO Source Accession
1	splenomegaly ³³	HP:0001744
2	hemolytic anemia ³³	HP:0001878
3	epistaxis ³³	HP:0000421
4	bruising susceptibility ³³	HP:0000978
5	gingival bleeding ³³	HP:0000225
6	petechiae ³³	HP:0000967
7	menorrhagia ³³	HP:0000132
8	prolonged bleeding after dental extraction ³³	HP:0006298
9	stomatocytosis ³³	HP:0004446
10	ecchymosis ³³	HP:0031364
11	increased mean platelet volume ³³	HP:0011877

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

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

petechiae of skin

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

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

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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 ³⁰	GP1BA

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

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

⁴²

Skin, Neutrophil

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

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

Genes related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	1318.81	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Variants (show sections)	1730088 7690774 11222377

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

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

⁷⁶

#	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		GRCh38	Chromosome 17, 4932696: 4932696
8	GP1BA	NM_000173.6(GP1BA): c.92T> C (p.Val31Ala)	single nucleotide variant	not provided		GRCh37	Chromosome 17, 4835991: 4835991

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

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

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

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

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

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

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

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

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

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

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

Diseases in the Bernard-Soulier Syndrome family:

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

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

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

Drugs & Therapeutics 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:

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

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

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

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

Genes related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant (1 elite genes):

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

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

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

Expression 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