BDPLT20
MCID: BLD133
MIFTS: 19

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 58
Platelet-Type Bleeding Disorder 20 12 30 6
Bdplt20 58 12 76
Autosomal Dominant Thrombocytopenia with Platelet Secretion Defect 12 60
Bleeding Disorder, Platelet-Type 20 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
bleeding disorder, platelet-type, 20:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Bleeding Disorder, Platelet-Type, 20

UniProtKB/Swiss-Prot : 76 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, is also known as platelet-type bleeding disorder 20. 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 An inherited blood coagulation 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.

Description from OMIM: 616913

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:

33
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 33 HP:0001873
2 epistaxis 33 HP:0000421
3 bruising susceptibility 33 HP:0000978
4 menorrhagia 33 HP:0000132

Symptoms via clinical synopsis from OMIM:

58
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

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 30 SLFN14

Anatomical Context for Bleeding Disorder, Platelet-Type, 20

Publications for Bleeding Disorder, Platelet-Type, 20

Variations for Bleeding Disorder, Platelet-Type, 20

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

76
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SLFN14 NM_001129820.1(SLFN14): c.659T> A (p.Val220Asp) single nucleotide variant Pathogenic rs869320714 GRCh38 Chromosome 17, 35557404: 35557404
2 SLFN14 NM_001129820.1(SLFN14): c.659T> A (p.Val220Asp) single nucleotide variant Pathogenic rs869320714 GRCh37 Chromosome 17, 33884423: 33884423
3 SLFN14 NM_001129820.1(SLFN14): c.657A> T (p.Lys219Asn) single nucleotide variant Pathogenic rs869320715 GRCh38 Chromosome 17, 35557406: 35557406
4 SLFN14 NM_001129820.1(SLFN14): c.657A> T (p.Lys219Asn) single nucleotide variant Pathogenic rs869320715 GRCh37 Chromosome 17, 33884425: 33884425
5 SLFN14 NM_001129820.1(SLFN14): c.652A> G (p.Lys218Glu) single nucleotide variant Pathogenic rs869320716 GRCh38 Chromosome 17, 35557411: 35557411
6 SLFN14 NM_001129820.1(SLFN14): c.652A> G (p.Lys218Glu) single nucleotide variant Pathogenic rs869320716 GRCh37 Chromosome 17, 33884430: 33884430
7 SLFN14 NM_001129820.1(SLFN14): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs757188030 GRCh37 Chromosome 17, 33884415: 33884415
8 SLFN14 NM_001129820.1(SLFN14): c.667C> T (p.Arg223Trp) single nucleotide variant Pathogenic rs757188030 GRCh38 Chromosome 17, 35557396: 35557396

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

Sources for Bleeding Disorder, Platelet-Type, 20

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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