BDPLT15
MCID: BLD121
MIFTS: 21

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 73
Platelet-Type Bleeding Disorder 15 12 29 6
Bdplt15 57 12 75
Autosomal Dominant Macrothrombocytopenia Actn1-Related 12 75
Macrothrombocytopenia, Autosomal Dominant, Actn1-Related 57
Bleeding Disorder, Platelet-Type 15 75
Bleeding Disorder, Platelet Type 15 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
bleeding disorder, platelet-type, 15:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615193
Disease Ontology 12 DOID:0111053
UMLS 73 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)

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, and related phenotypes are thrombocytopenia and epistaxis

Disease Ontology : 12 An inherited blood coagulation 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
thrombocytopenia
anisocytosis
large platelets
normal platelet function

Head And Neck Nose:
epistaxis (in some patients)


Clinical features from OMIM:

615193

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

32
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 epistaxis 32 occasional (7.5%) HP:0000421
3 anisocytosis 32 HP:0011273
4 increased mean platelet volume 32 HP:0011877

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

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

41
Bone

Publications for Bleeding Disorder, Platelet-Type, 15

Variations for Bleeding Disorder, Platelet-Type, 15

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

75
# 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

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 ACTN1 NM_001130004.1(ACTN1): c.313G> A (p.Val105Ile) single nucleotide variant Pathogenic rs387907345 GRCh37 Chromosome 14, 69387750: 69387750
2 ACTN1 NM_001130004.1(ACTN1): c.313G> A (p.Val105Ile) single nucleotide variant Pathogenic rs387907345 GRCh38 Chromosome 14, 68921033: 68921033
3 ACTN1 NM_001130004.1(ACTN1): c.94C> A (p.Gln32Lys) single nucleotide variant Pathogenic rs387907346 GRCh37 Chromosome 14, 69445680: 69445680
4 ACTN1 NM_001130004.1(ACTN1): c.94C> A (p.Gln32Lys) single nucleotide variant Pathogenic rs387907346 GRCh38 Chromosome 14, 68978963: 68978963
5 ACTN1 NM_001130004.1(ACTN1): c.2255G> A (p.Arg752Gln) single nucleotide variant Pathogenic rs387907347 GRCh37 Chromosome 14, 69346704: 69346704
6 ACTN1 NM_001130004.1(ACTN1): c.2255G> A (p.Arg752Gln) single nucleotide variant Pathogenic rs387907347 GRCh38 Chromosome 14, 68879987: 68879987
7 ACTN1 NM_001130004.1(ACTN1): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs387907348 GRCh37 Chromosome 14, 69392358: 69392358
8 ACTN1 NM_001130004.1(ACTN1): c.137G> A (p.Arg46Gln) single nucleotide variant Pathogenic rs387907348 GRCh38 Chromosome 14, 68925641: 68925641
9 ACTN1 NM_001130004.1(ACTN1): c.2212C> T (p.Arg738Trp) single nucleotide variant Pathogenic rs387907349 GRCh37 Chromosome 14, 69346747: 69346747
10 ACTN1 NM_001130004.1(ACTN1): c.2212C> T (p.Arg738Trp) single nucleotide variant Pathogenic rs387907349 GRCh38 Chromosome 14, 68880030: 68880030
11 ACTN1 NM_001130004.1(ACTN1): c.673G> A (p.Glu225Lys) single nucleotide variant Pathogenic rs387907350 GRCh37 Chromosome 14, 69371375: 69371375
12 ACTN1 NM_001130004.1(ACTN1): c.673G> A (p.Glu225Lys) single nucleotide variant Pathogenic rs387907350 GRCh38 Chromosome 14, 68904658: 68904658
13 ACTN1 NM_001130004.1(ACTN1): c.2201A> G (p.Gln734Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 14, 69346758: 69346758
14 ACTN1 NM_001130004.1(ACTN1): c.2201A> G (p.Gln734Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 14, 68880041: 68880041

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 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
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44 MeSH
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49 NCI
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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