BDPLT15
MCID: BLD121
MIFTS: 22

Bleeding Disorder, Platelet-Type, 15 (BDPLT15)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

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:



External Ids:

Disease Ontology 12 DOID:0111053
OMIM® 57 615193
OMIM Phenotypic Series 57 PS231200
UMLS 70 C3554663

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.

Related Diseases for Bleeding Disorder, Platelet-Type, 15

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)

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

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

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

Anatomical Context for Bleeding Disorder, Platelet-Type, 15

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
23434115 2013
2
Novel ACTN1 variants in cases of thrombocytopenia. 6
31237726 2019

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

Expression for Bleeding Disorder, Platelet-Type, 15

Search GEO for disease gene expression data 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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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