BDPLT20
MCID: BLD133
MIFTS: 27

Bleeding Disorder, Platelet-Type, 20 (BDPLT20)

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

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 20

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 20:

Name: Bleeding Disorder, Platelet-Type, 20 57
Platelet-Type Bleeding Disorder 20 12 29 6 15
Bdplt20 57 12 72
Autosomal Dominant Thrombocytopenia with Platelet Secretion Defect 12 58
Bleeding Disorder, Platelet-Type 20 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
bleeding disorder, platelet-type, 20:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111055
OMIM® 57 616913
OMIM Phenotypic Series 57 PS231200
Orphanet 58 ORPHA466806

Summaries for Bleeding Disorder, Platelet-Type, 20

UniProtKB/Swiss-Prot : 72 Bleeding disorder, platelet-type 20: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT20 is characterized by moderate thrombocytopenia and platelet secretion defects. Inheritance is autosomal dominant.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 20, also known as platelet-type bleeding disorder 20, is related to hemorrhagic disease. An important gene associated with Bleeding Disorder, Platelet-Type, 20 is SLFN14 (Schlafen Family Member 14). Related phenotypes are thrombocytopenia and epistaxis

Disease Ontology : 12 A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has material basis in heterozygous mutation in the SLFN14 gene on chromosome 17q12.

More information from OMIM: 616913 PS231200

Related Diseases for Bleeding Disorder, Platelet-Type, 20

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 20

Human phenotypes related to Bleeding Disorder, Platelet-Type, 20:

31
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 31 HP:0001873
2 epistaxis 31 HP:0000421
3 bruising susceptibility 31 HP:0000978
4 menorrhagia 31 HP:0000132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Hematology:
thrombocytopenia
enlarged platelets (in some patients)
increased bleeding tendency
poor aggregation response to adp, collagen, and par1
platelets have decreased dense granules
more
Genitourinary Internal Genitalia Female:
menorrhagia

Head And Neck Mouth:
easy gum bleeding

Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising

Clinical features from OMIM®:

616913 (Updated 20-May-2021)

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 20

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 20

Genetic Tests for Bleeding Disorder, Platelet-Type, 20

Genetic tests related to Bleeding Disorder, Platelet-Type, 20:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 20 29 SLFN14

Anatomical Context for Bleeding Disorder, Platelet-Type, 20

Publications for Bleeding Disorder, Platelet-Type, 20

Articles related to Bleeding Disorder, Platelet-Type, 20:

# Title Authors PMID Year
1
SLFN14-related thrombocytopenia: identification within a large series of patients with inherited thrombocytopenia. 6 57
26769223 2016
2
SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects. 57 6
26280575 2015

Variations for Bleeding Disorder, Platelet-Type, 20

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 20:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLFN14 NM_001129820.1(SLFN14):c.652A>G (p.Lys218Glu) SNV Pathogenic 225535 rs869320716 GRCh37: 17:33884430-33884430
GRCh38: 17:35557411-35557411
2 SLFN14 NM_001129820.1(SLFN14):c.659T>A (p.Val220Asp) SNV Pathogenic 225533 rs869320714 GRCh37: 17:33884423-33884423
GRCh38: 17:35557404-35557404
3 SLFN14 NM_001129820.1(SLFN14):c.667C>T (p.Arg223Trp) SNV Pathogenic 225536 rs757188030 GRCh37: 17:33884415-33884415
GRCh38: 17:35557396-35557396
4 SLFN14 NM_001129820.1(SLFN14):c.657A>T (p.Lys219Asn) SNV Pathogenic 225534 rs869320715 GRCh37: 17:33884425-33884425
GRCh38: 17:35557406-35557406
5 SLFN14 , LOC107985033 NM_001129820.2(SLFN14):c.1152del (p.His384fs) Deletion Pathogenic 998285 GRCh37: 17:33881632-33881632
GRCh38: 17:35554613-35554613
6 SLFN14 NM_001129820.2(SLFN14):c.1456C>T (p.Arg486Ter) SNV Pathogenic 732258 rs192498365 GRCh37: 17:33880197-33880197
GRCh38: 17:35553178-35553178
7 SLFN14 NM_001129820.2(SLFN14):c.2146C>T (p.Leu716Phe) SNV Uncertain significance 1033309 GRCh37: 17:33875851-33875851
GRCh38: 17:35548832-35548832
8 SLFN14 NM_001129820.2(SLFN14):c.2153del (p.Pro718fs) Deletion Uncertain significance 1033310 GRCh37: 17:33875844-33875844
GRCh38: 17:35548825-35548825
9 SLFN14 NM_001129820.2(SLFN14):c.1904C>T (p.Thr635Ile) SNV Uncertain significance 1030178 GRCh37: 17:33879749-33879749
GRCh38: 17:35552730-35552730

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 20:

72
# Symbol AA change Variation ID SNP ID
1 SLFN14 p.Lys218Glu VAR_075786 rs869320716
2 SLFN14 p.Lys219Asn VAR_075787 rs869320715
3 SLFN14 p.Val220Asp VAR_075788 rs869320714
4 SLFN14 p.Arg223Trp VAR_076796 rs757188030

Expression for Bleeding Disorder, Platelet-Type, 20

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 20.

Pathways for Bleeding Disorder, Platelet-Type, 20

GO Terms for Bleeding Disorder, Platelet-Type, 20

Biological processes related to Bleeding Disorder, Platelet-Type, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA phosphodiester bond hydrolysis, endonucleolytic GO:0090502 8.96 SLFN14 SLFN13
2 rRNA catabolic process GO:0016075 8.62 SLFN14 SLFN13

Molecular functions related to Bleeding Disorder, Platelet-Type, 20 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclease activity GO:0004518 9.16 SLFN14 SLFN13
2 endonuclease activity GO:0004519 8.96 SLFN14 SLFN13
3 endoribonuclease activity GO:0004521 8.62 SLFN14 SLFN13

Sources for Bleeding Disorder, Platelet-Type, 20

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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