Bleeding Disorder, Platelet-Type, 15 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Bleeding Disorder, Platelet-Type, 15

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 15:

Name: Bleeding Disorder, Platelet-Type, 15 ⁵⁷ ¹³ ⁷⁰

Platelet-Type Bleeding Disorder 15 ¹² ²⁹ ⁶

Bdplt15 ⁵⁷ ¹² ⁷²

Autosomal Dominant Macrothrombocytopenia Actn1-Related ¹² ⁷²

Macrothrombocytopenia, Autosomal Dominant, Actn1-Related ⁵⁷

Bleeding Disorder, Platelet-Type 15 ⁷²

Bleeding Disorder, Platelet Type 15 ³⁹

Characteristics:

OMIM®:

⁵⁷ (Updated 20-May-2021)

Inheritance:
autosomal dominant

Miscellaneous:
described in 6 japanese families
most patients have no bleeding abnormalities

HPO:

³¹

bleeding disorder, platelet-type, 15:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Bone diseases Immune diseases Smell/Taste diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0111053

OMIM® ⁵⁷ 615193

OMIM Phenotypic Series ⁵⁷ PS231200

MeSH ⁴⁴ D001791 D006470

MedGen ⁴¹ C3554663 CN169278

SNOMED-CT via HPO ⁶⁸ 12441001 165475005 249366005 more

UMLS ⁷⁰ C3554663

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Summaries for Bleeding Disorder, Platelet-Type, 15

OMIM® : ⁵⁷ Platelet-type bleeding disorder-15 is an autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities (summary by Kunishima et al., 2013). (615193) (Updated 20-May-2021)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 15, is also known as platelet-type bleeding disorder 15. An important gene associated with Bleeding Disorder, Platelet-Type, 15 is ACTN1 (Actinin Alpha 1). Related phenotypes are thrombocytopenia and epistaxis

Disease Ontology : ¹² A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has material basis in heterozygous mutation in the ACTN1 gene on chromosome 14q.

UniProtKB/Swiss-Prot : ⁷² Bleeding disorder, platelet-type 15: An autosomal dominant form of macrothrombocytopenia. Affected individuals usually have no or only mild bleeding tendency, such as epistaxis. Laboratory studies show decreased numbers of large platelets and anisocytosis, but the platelets show no in vitro functional abnormalities.

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Related Diseases for Bleeding Disorder, Platelet-Type, 15

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Bleeding Disorder, Platelet-Type, 16	Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12	Bleeding Disorder, Platelet-Type, 8
Bleeding Disorder, Platelet-Type, 13	Bleeding Disorder, Platelet-Type, 14
Bleeding Disorder, Platelet-Type, 9	Bleeding Disorder, Platelet-Type, 15
Bleeding Disorder, Platelet-Type, 18	Bleeding Disorder, Platelet-Type, 19
Bleeding Disorder, Platelet-Type, 20	Bleeding Disorder, Platelet-Type, 21
Bleeding Disorder, Platelet-Type, 22	Bleeding Disorder, Platelet-Type, 24

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Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 15

Human phenotypes related to Bleeding Disorder, Platelet-Type, 15:

³¹

#	Description	HPO Frequency	HPO Source Accession
1	thrombocytopenia ³¹	very rare (1%)	HP:0001873
2	epistaxis ³¹	very rare (1%)	HP:0000421
3	increased mean platelet volume ³¹	very rare (1%)	HP:0011877
4	platelet anisocytosis ³¹	very rare (1%)	HP:0032438
5	anisocytosis ³¹		HP:0011273

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 20-May-2021)

Hematology:
thrombocytopenia
anisocytosis
large platelets
normal platelet function

Head And Neck Nose:
epistaxis (in some patients)

Clinical features from OMIM®:

615193 (Updated 20-May-2021)

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Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 15

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 15

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Genetic Tests for Bleeding Disorder, Platelet-Type, 15

Genetic tests related to Bleeding Disorder, Platelet-Type, 15:

#	Genetic test	Affiliating Genes
1	Platelet-Type Bleeding Disorder 15 ²⁹	ACTN1

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Anatomical Context for Bleeding Disorder, Platelet-Type, 15

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Publications for Bleeding Disorder, Platelet-Type, 15

Articles related to Bleeding Disorder, Platelet-Type, 15:

#	Title	Authors	PMID	Year
1	ACTN1 mutations cause congenital macrothrombocytopenia. ⁶ ⁵⁷	Kunishima S...Ogawa S	23434115	2013
2	Novel ACTN1 variants in cases of thrombocytopenia. ⁶	Vincenot A...Alessi MC	31237726	2019

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Genes for Bleeding Disorder, Platelet-Type, 15

Genes related to Bleeding Disorder, Platelet-Type, 15 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ACTN1	Actinin Alpha 1	Protein Coding	1342.75	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	23434115

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Variations for Bleeding Disorder, Platelet-Type, 15

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 15:

⁶ (show all 18)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ACTN1	NM_001102.4(ACTN1):c.2212C>T (p.Arg738Trp)	SNV	Pathogenic	42032	rs387907349	GRCh37: 14:69346747-69346747 GRCh38: 14:68880030-68880030
2	ACTN1	NM_001102.4(ACTN1):c.673G>A (p.Glu225Lys)	SNV	Pathogenic	42033	rs387907350	GRCh37: 14:69371375-69371375 GRCh38: 14:68904658-68904658
3	ACTN1	NM_001102.4(ACTN1):c.313G>A (p.Val105Ile)	SNV	Pathogenic	42028	rs387907345	GRCh37: 14:69387750-69387750 GRCh38: 14:68921033-68921033
4	ACTN1	NM_001102.4(ACTN1):c.94C>A (p.Gln32Lys)	SNV	Pathogenic	42029	rs387907346	GRCh37: 14:69445680-69445680 GRCh38: 14:68978963-68978963
5	ACTN1	NM_001102.4(ACTN1):c.2255G>A (p.Arg752Gln)	SNV	Pathogenic	42030	rs387907347	GRCh37: 14:69346704-69346704 GRCh38: 14:68879987-68879987
6	ACTN1	NM_001102.4(ACTN1):c.137G>A (p.Arg46Gln)	SNV	Likely pathogenic	42031	rs387907348	GRCh37: 14:69392358-69392358 GRCh38: 14:68925641-68925641
7	ACTN1	NM_001102.4(ACTN1):c.2201A>G (p.Gln734Arg)	SNV	Likely pathogenic	517137	rs1555343284	GRCh37: 14:69346758-69346758 GRCh38: 14:68880041-68880041
8	ACTN1	NM_001102.4(ACTN1):c.770C>G (p.Thr257Arg)	SNV	Likely pathogenic	627135	rs1594773549	GRCh37: 14:69360457-69360457 GRCh38: 14:68893740-68893740
9	ACTN1	NM_001130004.1(ACTN1):c.970A>G (p.Lys324Glu)	SNV	Likely pathogenic	666541	rs1594771270	GRCh37: 14:69358886-69358886 GRCh38: 14:68892169-68892169
10	ACTN1	NM_001130004.1(ACTN1):c.982G>A (p.Val328Met)	SNV	Likely pathogenic	666542	rs1594771236	GRCh37: 14:69358874-69358874 GRCh38: 14:68892157-68892157
11	ACTN1	NM_001130004.1(ACTN1):c.986A>G (p.Gln329Arg)	SNV	Likely pathogenic	666543	rs1594771224	GRCh37: 14:69358870-69358870 GRCh38: 14:68892153-68892153
12	ACTN1	NM_001130004.1(ACTN1):c.1193A>C (p.Lys398Thr)	SNV	Likely pathogenic	666544	rs1594768463	GRCh37: 14:69356897-69356897 GRCh38: 14:68890180-68890180
13	ACTN1	NM_001130004.1(ACTN1):c.1295C>T (p.Ala432Val)	SNV	Likely pathogenic	666545	rs1594760140	GRCh37: 14:69352232-69352232 GRCh38: 14:68885515-68885515
14	ACTN1	NM_001130004.1(ACTN1):c.1348C>T (p.Arg450Cys)	SNV	Likely pathogenic	666546	rs1594760036	GRCh37: 14:69352179-69352179 GRCh38: 14:68885462-68885462
15	ACTN1	NM_001130004.1(ACTN1):c.1349G>A (p.Arg450His)	SNV	Likely pathogenic	666547	rs751173836	GRCh37: 14:69352178-69352178 GRCh38: 14:68885461-68885461
16	ACTN1	NM_001130004.1(ACTN1):c.1864C>T (p.His622Tyr)	SNV	Likely pathogenic	666548	rs1594755688	GRCh37: 14:69349264-69349264 GRCh38: 14:68882547-68882547
17	ACTN1	NM_001130004.1(ACTN1):c.2157G>C (p.Gln719His)	SNV	Likely pathogenic	666549	rs1594751825	GRCh37: 14:69346802-69346802 GRCh38: 14:68880085-68880085
18	ACTN1	NM_001130004.1(ACTN1):c.2243T>A (p.Met748Lys)	SNV	Likely pathogenic	666550	rs1594751659	GRCh37: 14:69346716-69346716 GRCh38: 14:68879999-68879999

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 15:

⁷²

#	Symbol	AA change	Variation ID	SNP ID
1	ACTN1	p.Gln32Lys	VAR_069910	rs387907346
2	ACTN1	p.Arg46Gln	VAR_069911	rs387907348
3	ACTN1	p.Val105Ile	VAR_069912	rs387907345
4	ACTN1	p.Glu225Lys	VAR_069914	rs387907350
5	ACTN1	p.Arg738Trp	VAR_069915	rs387907349
6	ACTN1	p.Arg752Gln	VAR_069916	rs387907347

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Expression for Bleeding Disorder, Platelet-Type, 15

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 15.

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Pathways for Bleeding Disorder, Platelet-Type, 15

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GO Terms for Bleeding Disorder, Platelet-Type, 15

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Sources for Bleeding Disorder, Platelet-Type, 15

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

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¹² Disease Ontology

¹³ diseasecard

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¹⁶ DrugBank

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²⁰ GARD

²¹ GeneAnalytics

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²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Bleeding Disorder, Platelet-Type, 15 (BDPLT15)

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 15

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 15:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Bleeding Disorder, Platelet-Type, 15

Related Diseases for Bleeding Disorder, Platelet-Type, 15

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 15

Human phenotypes related to Bleeding Disorder, Platelet-Type, 15:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 15

Genetic Tests for Bleeding Disorder, Platelet-Type, 15

Genetic tests related to Bleeding Disorder, Platelet-Type, 15:

Anatomical Context for Bleeding Disorder, Platelet-Type, 15

Publications for Bleeding Disorder, Platelet-Type, 15

Articles related to Bleeding Disorder, Platelet-Type, 15:

Genes for Bleeding Disorder, Platelet-Type, 15

Genes related to Bleeding Disorder, Platelet-Type, 15 (1 elite genes):

Variations for Bleeding Disorder, Platelet-Type, 15

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 15:

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 15:

Expression for Bleeding Disorder, Platelet-Type, 15

Pathways for Bleeding Disorder, Platelet-Type, 15

GO Terms for Bleeding Disorder, Platelet-Type, 15

Sources for Bleeding Disorder, Platelet-Type, 15