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 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:

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® ⁵⁷ 153670

MeSH ⁴⁴ D001606

MedGen ⁴¹ C2750610 C3277076

SNOMED-CT via HPO ⁶⁸ 12441001 16294009 249366005 more

UMLS ⁷⁰ C3277076

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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

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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:

³¹ (show all 11)

#	Description	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

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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 ²⁹	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:

⁴⁰

Neutrophil

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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	Savoia A...Iolascon A	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	Miller JL...Cunningham D	1730088	1992
3	Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. ⁶	Ware J...Ruggeri ZM	7690774	1993

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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	PubMed IDs
1	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	1308.63	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	1730088

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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

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

¹ BioSystems

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³⁵ IUPHAR

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⁴⁰ MalaCards

⁴¹ MedGen

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⁴⁴ MeSH

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⁵² NIH Clinical Center

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ 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

Articles related to 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

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

UniProtKB/Swiss-Prot 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

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