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

Sources

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:

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

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:0111059

OMIM® ⁵⁷ 153670

MeSH ⁴³ D001606

MedGen ⁴⁰ C2750610 C3277076

SNOMED-CT via HPO ⁶⁹ 12441001 16294009 249366005 more

UMLS ⁷¹ C3277076

Sources

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

Sources

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

Diseases in the Bernard-Soulier Syndrome family:

Bernard-Soulier Syndrome, Type A2, Autosomal Dominant

Diseases related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	glanzmann thrombasthenia 1	9.9	TUBB1 GP1BA
2	hemophilia b	9.8	HPS6 GP1BA
3	bernard-soulier syndrome	9.7	TUBB1 GP1BA GFI1B
4	autosomal dominant macrothrombocytopenia	9.7	TUBB1 GP1BA GFI1B
5	thrombocytopenia	9.7	TUBB1 GP1BA GFI1B
6	bleeding disorder, platelet-type, 8	9.7	HPS6 HPS4
7	myh-9 related disease	9.7	TUBB1 GP1BA GFI1B
8	albinism, oculocutaneous, type iv	9.7	HPS6 HPS4
9	amegakaryocytic thrombocytopenia, congenital	9.7	TUBB1 GP1BA GFI1B
10	albinism, oculocutaneous, type ii	9.7	HPS6 HPS4
11	albinism, oculocutaneous, type iii	9.7	HPS6 HPS4
12	griscelli syndrome	9.7	HPS6 HPS4
13	hermansky-pudlak syndrome 1	9.7	HPS6 HPS4
14	hermansky-pudlak syndrome	9.6	HPS6 HPS4
15	jacobsen syndrome	9.5	HPS4 GP1BA GFI1B
16	oculocutaneous albinism	9.5	HPS6 HPS4
17	storage pool platelet disease	9.5	HPS6 HPS4 GFI1B
18	pulmonary fibrosis	9.4	HPS6 HPS4

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

Sources

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 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

Sources

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

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

Sources

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

Sources

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

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

MalaCards : Neutrophil, Skin

Sources

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	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. ⁵⁷ ⁵	Miller JL...Cunningham D	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	Megy K...Freson K	34355501	2021
4	Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. ⁵	Downes K...Freson K	31064749	2019
5	Outcome of an enhanced diagnostic pipeline for patients suspected of inherited thrombocytopenia. ⁵	Leinoe E...Rossing M	30908598	2019
6	A new heterozygous mutation in GP1BA gene responsible for macrothrombocytopenia. ⁵	Ghalloussi D...Baccini V	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	Simsek S...von dem Borne AE	7855797	1994
8	Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome. ⁵	Ware J...Ruggeri ZM	7690774	1993

Sources

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	1325	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵	1730088 7690774 11222377 (more) 30908598 34355501 7855797 29082515 31064749
2	GFI1B	Growth Factor Independent 1B Transcriptional Repressor	Protein Coding	6.15	DISEASES inferred ¹⁴
3	HPS6	HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3	Protein Coding	5.29	DISEASES inferred ¹⁴
4	HPS4	HPS4 Biogenesis Of Lysosomal Organelles Complex 3 Subunit 2	Protein Coding	5.05	DISEASES inferred ¹⁴
5	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	5	DISEASES inferred ¹⁴

Sources

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

Sources

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

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

Sources

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

Sources

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

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

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

BSSA2 MCID: BRN132 MIFTS: 35	Bernard-Soulier Syndrome, Type A2, Autosomal Dominant (BSSA2) Categories: Blood diseases, Genetic diseases, Rare diseases, Skin diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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:

Inheritance:

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:

Diseases related to Bernard-Soulier Syndrome, Type A2, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 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:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

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

MGI Mouse Phenotypes 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

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

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

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