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:

IMPROVED

Name: Bleeding Disorder, Platelet-Type, 15 ⁵⁷ ⁷³ ⁷¹

Platelet-Type Bleeding Disorder 15 ¹¹ ²⁸ ⁵

Bdplt15 ⁵⁷ ¹¹ ⁷³

Autosomal Dominant Macrothrombocytopenia Actn1-Related ¹¹ ⁷³

Macrothrombocytopenia, Autosomal Dominant, Actn1-Related ⁵⁷

Bleeding Disorder, Platelet Type 15 ³⁸

Characteristics:

Inheritance:

Autosomal dominant ⁵⁷

OMIM®:

⁵⁷ (Updated 24-Oct-2022)

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

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 ¹¹ DOID:0111053

OMIM® ⁵⁷ 615193

OMIM Phenotypic Series ⁵⁷ PS231200

MeSH ⁴³ D001791 D006470

MedGen ⁴⁰ C3554663 CN169278

SNOMED-CT via HPO ⁶⁹ 12441001 249366005 302215000 more

UMLS ⁷¹ 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 24-Oct-2022)

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). Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are thrombocytopenia and epistaxis

UniProtKB/Swiss-Prot: ⁷³ 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.

Disease Ontology: ¹¹ 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.

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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:

³⁰

#	Description	HPO Frequency	HPO Source Accession
1	thrombocytopenia ³⁰	Very rare (1%)	HP:0001873
2	epistaxis ³⁰	Very rare (1%)	HP:0000421
3	increased mean platelet volume ³⁰	Very rare (1%)	HP:0011877
4	platelet anisocytosis ³⁰	Very rare (1%)	HP:0032438

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 24-Oct-2022)

Hematology:
thrombocytopenia
anisocytosis
large platelets
normal platelet function

Head And Neck Nose:
epistaxis (in some patients)

Clinical features from OMIM®:

615193 (Updated 24-Oct-2022)

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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 ²⁸	ACTN1

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Anatomical Context for Bleeding Disorder, Platelet-Type, 15

Organs/tissues related to Bleeding Disorder, Platelet-Type, 15:

MalaCards : Bone Marrow, Bone

ODiseA: Blood And Bone Marrow

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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. ⁵⁷ ⁵	Kunishima S...Ogawa S	23434115	2013
2	Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. ⁵	Downes K...Freson K	31064749	2019
3	Novel ACTN1 variants in cases of thrombocytopenia. ⁵	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	1333.29	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ GeneCards inferred via : Disorders (show sections)	23434115 31064749 31237726

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Variations for Bleeding Disorder, Platelet-Type, 15

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

IMPROVED

⁵ (show all 41)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ACTN1	NM_001130004.2(ACTN1):c.94C>A (p.Gln32Lys)	SNV	Pathogenic	42029	rs387907346	GRCh37: 14:69445680-69445680 GRCh38: 14:68978963-68978963
2	ACTN1	NM_001130004.2(ACTN1):c.2255G>A (p.Arg752Gln)	SNV	Pathogenic	42030	rs387907347	GRCh37: 14:69346704-69346704 GRCh38: 14:68879987-68879987
3	ACTN1	NM_001130004.2(ACTN1):c.2212C>T (p.Arg738Trp)	SNV	Pathogenic	42032	rs387907349	GRCh37: 14:69346747-69346747 GRCh38: 14:68880030-68880030
4	ACTN1	NM_001130004.2(ACTN1):c.673G>A (p.Glu225Lys)	SNV	Pathogenic	42033	rs387907350	GRCh37: 14:69371375-69371375 GRCh38: 14:68904658-68904658
5	ACTN1	NM_001130004.2(ACTN1):c.384G>T (p.Trp128Cys)	SNV	Pathogenic	1684463		GRCh37: 14:69378916-69378916 GRCh38: 14:68912199-68912199
6	ACTN1	NM_001130004.2(ACTN1):c.1181A>G (p.His394Arg)	SNV	Pathogenic	627217	rs1594768482	GRCh37: 14:69356909-69356909 GRCh38: 14:68890192-68890192
7	ACTN1	NM_001130004.2(ACTN1):c.2141G>A (p.Arg714His)	SNV	Pathogenic	1306091		GRCh37: 14:69346818-69346818 GRCh38: 14:68880101-68880101
8	ACTN1	NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)	SNV	Pathogenic	42028	rs387907345	GRCh37: 14:69387750-69387750 GRCh38: 14:68921033-68921033
9	ACTN1	NM_001130004.2(ACTN1):c.137G>A (p.Arg46Gln)	SNV	Pathogenic/Likely Pathogenic	42031	rs387907348	GRCh37: 14:69392358-69392358 GRCh38: 14:68925641-68925641
10	ACTN1	NM_001130004.2(ACTN1):c.1348C>T (p.Arg450Cys)	SNV	Pathogenic/Likely Pathogenic	666546	rs1594760036	GRCh37: 14:69352179-69352179 GRCh38: 14:68885462-68885462
11	ACTN1	NM_001130004.2(ACTN1):c.2213G>A (p.Arg738Gln)	SNV	Likely Pathogenic	1684471		GRCh37: 14:69346746-69346746 GRCh38: 14:68880029-68880029
12	ACTN1	NM_001130004.2(ACTN1):c.342A>C (p.Glu114Asp)	SNV	Likely Pathogenic	1693577		GRCh37: 14:69378958-69378958 GRCh38: 14:68912241-68912241
13	ACTN1	NM_001130004.2(ACTN1):c.127T>A (p.Ser43Thr)	SNV	Likely Pathogenic	1684466		GRCh37: 14:69392368-69392368 GRCh38: 14:68925651-68925651
14	ACTN1	NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp)	SNV	Likely Pathogenic	626995	rs747559032	GRCh37: 14:69392359-69392359 GRCh38: 14:68925642-68925642
15	ACTN1	NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)	SNV	Likely Pathogenic	517137	rs1555343284	GRCh37: 14:69346758-69346758 GRCh38: 14:68880041-68880041
16	ACTN1	NM_001130004.2(ACTN1):c.770C>G (p.Thr257Arg)	SNV	Likely Pathogenic	627135	rs1594773549	GRCh37: 14:69360457-69360457 GRCh38: 14:68893740-68893740
17	ACTN1	NM_001130004.2(ACTN1):c.970A>G (p.Lys324Glu)	SNV	Likely Pathogenic	666541	rs1594771270	GRCh37: 14:69358886-69358886 GRCh38: 14:68892169-68892169
18	ACTN1	NM_001130004.2(ACTN1):c.982G>A (p.Val328Met)	SNV	Likely Pathogenic	666542	rs1594771236	GRCh37: 14:69358874-69358874 GRCh38: 14:68892157-68892157
19	ACTN1	NM_001130004.2(ACTN1):c.986A>G (p.Gln329Arg)	SNV	Likely Pathogenic	666543	rs1594771224	GRCh37: 14:69358870-69358870 GRCh38: 14:68892153-68892153
20	ACTN1	NM_001130004.2(ACTN1):c.1193A>C (p.Lys398Thr)	SNV	Likely Pathogenic	666544	rs1594768463	GRCh37: 14:69356897-69356897 GRCh38: 14:68890180-68890180
21	ACTN1	NM_001130004.2(ACTN1):c.1295C>T (p.Ala432Val)	SNV	Likely Pathogenic	666545	rs1594760140	GRCh37: 14:69352232-69352232 GRCh38: 14:68885515-68885515
22	ACTN1	NM_001130004.2(ACTN1):c.1349G>A (p.Arg450His)	SNV	Likely Pathogenic	666547	rs751173836	GRCh37: 14:69352178-69352178 GRCh38: 14:68885461-68885461
23	ACTN1	NM_001130004.2(ACTN1):c.1864C>T (p.His622Tyr)	SNV	Likely Pathogenic	666548	rs1594755688	GRCh37: 14:69349264-69349264 GRCh38: 14:68882547-68882547
24	ACTN1	NM_001130004.2(ACTN1):c.2157G>C (p.Gln719His)	SNV	Likely Pathogenic	666549	rs1594751825	GRCh37: 14:69346802-69346802 GRCh38: 14:68880085-68880085
25	ACTN1	NM_001130004.2(ACTN1):c.2243T>A (p.Met748Lys)	SNV	Likely Pathogenic	666550	rs1594751659	GRCh37: 14:69346716-69346716 GRCh38: 14:68879999-68879999
26	ACTN1	NM_001130004.2(ACTN1):c.2728G>C (p.Gly910Arg)	SNV	Likely Pathogenic	988884	rs192640536	GRCh37: 14:69341593-69341593 GRCh38: 14:68874876-68874876
27	ACTN1	NM_001130004.2(ACTN1):c.2551G>A (p.Val851Ile)	SNV	Likely Pathogenic	1704200		GRCh37: 14:69343834-69343834 GRCh38: 14:68877117-68877117
28	ACTN1	NM_001130004.2(ACTN1):c.1959C>G (p.Ile653Met)	SNV	Likely Pathogenic	627175	rs372031019	GRCh37: 14:69347701-69347701 GRCh38: 14:68880984-68880984
29	ACTN1	NM_001130004.2(ACTN1):c.2658G>A (p.Met886Ile)	SNV	Uncertain Significance	1677254		GRCh37: 14:69341663-69341663 GRCh38: 14:68874946-68874946
30	ACTN1	NM_001130004.2(ACTN1):c.1294G>A (p.Ala432Thr)	SNV	Uncertain Significance	627221	rs1454176065	GRCh37: 14:69352233-69352233 GRCh38: 14:68885516-68885516
31	ACTN1	NM_001130004.2(ACTN1):c.2209A>G (p.Thr737Ala)	SNV	Uncertain Significance	627277	rs1594751712	GRCh37: 14:69346750-69346750 GRCh38: 14:68880033-68880033
32	ACTN1	NM_001130004.2(ACTN1):c.676+9C>T	SNV	Uncertain Significance	1684409		GRCh37: 14:69371363-69371363 GRCh38: 14:68904646-68904646
33	ACTN1	NM_001130004.2(ACTN1):c.2302C>A (p.Pro768Thr)	SNV	Uncertain Significance	1684460		GRCh37: 14:69345765-69345765 GRCh38: 14:68879048-68879048
34	ACTN1	NM_001130004.2(ACTN1):c.1040T>C (p.Leu347Pro)	SNV	Uncertain Significance	1684461		GRCh37: 14:69358816-69358816 GRCh38: 14:68892099-68892099
35	ACTN1	NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala)	SNV	Uncertain Significance	1684462		GRCh37: 14:69358838-69358838 GRCh38: 14:68892121-68892121
36	ACTN1	NM_001130004.2(ACTN1):c.919C>T (p.His307Tyr)	SNV	Uncertain Significance	1684469		GRCh37: 14:69358937-69358937 GRCh38: 14:68892220-68892220
37	ACTN1	NM_001130004.2(ACTN1):c.715A>G (p.Met239Val)	SNV	Uncertain Significance	1684470		GRCh37: 14:69369241-69369241 GRCh38: 14:68902524-68902524
38	ACTN1	NM_001130004.2(ACTN1):c.2255G>C (p.Arg752Pro)	SNV	Uncertain Significance	1703857		GRCh37: 14:69346704-69346704 GRCh38: 14:68879987-68879987
39	ACTN1	NM_001130004.2(ACTN1):c.580G>A (p.Gly194Arg)	SNV	Likely Benign	1336381		GRCh37: 14:69376049-69376049 GRCh38: 14:68909332-68909332
40	ACTN1	NM_001130004.2(ACTN1):c.2126C>T (p.Thr709Ile)	SNV	Likely Benign	1684464		GRCh37: 14:69347534-69347534 GRCh38: 14:68880817-68880817
41	ACTN1	NM_001130004.2(ACTN1):c.2108A>G (p.Asn703Ser)	SNV	Likely Benign	1684465		GRCh37: 14:69347552-69347552 GRCh38: 14:68880835-68880835

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

⁷³

#	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 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

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¹⁵ DrugBank

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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

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 24-Oct-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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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

BDPLT15 MCID: BLD121 MIFTS: 25	Bleeding Disorder, Platelet-Type, 15 (BDPLT15) Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Publications Symptoms & Phenotypes Expand all tables

Bleeding Disorder, Platelet-Type, 15 (BDPLT15)

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

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

Characteristics:

Inheritance:

OMIM®:

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

Organs/tissues related to 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