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
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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 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:



External Ids:

Disease Ontology 11 DOID:0111053
OMIM® 57 615193
OMIM Phenotypic Series 57 PS231200
UMLS 71 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 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.

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:

30
# Description HPO Frequency Orphanet 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)

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 28 ACTN1

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

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
23434115 2013
2
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
3
Novel ACTN1 variants in cases of thrombocytopenia. 5
31237726 2019

Variations for Bleeding Disorder, Platelet-Type, 15

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

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

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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