BDPLT21
MCID: BLD132
MIFTS: 22

Bleeding Disorder, Platelet-Type, 21 (BDPLT21)

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

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 21

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 21:

Name: Bleeding Disorder, Platelet-Type, 21 57 29 6 39
Bdplt21 57 72
Bleeding Disorder, Platelet-Type 21 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
autosomal recessive (1 family)

Miscellaneous:
one family with autosomal recessive inheritance has been reported (last curated april 2017)


HPO:

31
bleeding disorder, platelet-type, 21:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 617443
OMIM Phenotypic Series 57 PS231200

Summaries for Bleeding Disorder, Platelet-Type, 21

OMIM® : 57 BDPLT21 is a hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. Platelets have decreased or even absent dense bodies and abnormally enlarged and fused alpha-granules, and they show defective secretion and aggregation responses to agonists. Platelets are usually enlarged, and some patients may have mild to moderate thrombocytopenia (summary by Saultier et al., 2017). (617443) (Updated 20-May-2021)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 21, is also known as bdplt21. An important gene associated with Bleeding Disorder, Platelet-Type, 21 is FLI1 (Fli-1 Proto-Oncogene, ETS Transcription Factor). Related phenotypes are alopecia and thrombocytopenia

UniProtKB/Swiss-Prot : 72 Bleeding disorder, platelet-type 21: A disorder characterized by increased bleeding tendency due to platelet dysfunction. Clinical features include epistaxis, hematomas, bleeding after tooth extraction, and menorrhagia. BDPLT21 patients may have mild to moderate thrombocytopenia.

Related Diseases for Bleeding Disorder, Platelet-Type, 21

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 21

Human phenotypes related to Bleeding Disorder, Platelet-Type, 21:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 alopecia 31 very rare (1%) HP:0001596
2 thrombocytopenia 31 very rare (1%) HP:0001873
3 eczema 31 very rare (1%) HP:0000964
4 psoriasiform dermatitis 31 very rare (1%) HP:0003765
5 recurrent viral infections 31 very rare (1%) HP:0004429
6 menorrhagia 31 HP:0000132
7 impaired platelet aggregation 31 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
menorrhagia
increased obstetric bleeding

Skin Nails Hair Hair:
alopecia (in some patients)

Head And Neck Teeth:
dental bleeding

Hematology:
impaired platelet aggregation
enlarged platelets
increased bleeding tendency
thrombocytopenia, mild (in some patients)
platelets have defective atp secretion in response to agonists
more
Skin Nails Hair Skin:
eczema (in some patients)
psoriasis (in some patients)

Immunology:
recurrent viral infections (in some patients)

Clinical features from OMIM®:

617443 (Updated 20-May-2021)

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 21

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 21

Genetic Tests for Bleeding Disorder, Platelet-Type, 21

Genetic tests related to Bleeding Disorder, Platelet-Type, 21:

# Genetic test Affiliating Genes
1 Bleeding Disorder, Platelet-Type, 21 29 FLI1

Anatomical Context for Bleeding Disorder, Platelet-Type, 21

Publications for Bleeding Disorder, Platelet-Type, 21

Articles related to Bleeding Disorder, Platelet-Type, 21:

# Title Authors PMID Year
1
Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features. 6 57
28255014 2017
2
Paris-Trousseau thrombocytopenia is phenocopied by the autosomal recessive inheritance of a DNA-binding domain mutation in FLI1. 6 57
26316623 2015
3
Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects. 6 57
24100448 2013

Variations for Bleeding Disorder, Platelet-Type, 21

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 21:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FLI1 NM_002017.5(FLI1):c.1033A>G (p.Lys345Glu) SNV Pathogenic 424636 rs1064797087 GRCh37: 11:128680557-128680557
GRCh38: 11:128810662-128810662
2 FLI1 NM_002017.5(FLI1):c.992_995del (p.Asn331fs) Deletion Pathogenic 424634 rs1064797085 GRCh37: 11:128680515-128680518
GRCh38: 11:128810620-128810623
3 FLI1 NM_002017.5(FLI1):c.970C>T (p.Arg324Trp) SNV Pathogenic 217031 rs773148506 GRCh37: 11:128680494-128680494
GRCh38: 11:128810599-128810599
4 FLI1 NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln) SNV Pathogenic 424635 rs1064797086 GRCh37: 11:128680534-128680534
GRCh38: 11:128810639-128810639
5 FLI1 NM_002017.5(FLI1):c.1028A>G (p.Tyr343Cys) SNV Pathogenic 424633 rs1064797084 GRCh37: 11:128680552-128680552
GRCh38: 11:128810657-128810657
6 FLI1 NM_002017.5(FLI1):c.852G>T (p.Trp284Cys) SNV Likely pathogenic 986337 GRCh37: 11:128680376-128680376
GRCh38: 11:128810481-128810481
7 FLI1 NM_002017.5(FLI1):c.1009C>T (p.Arg337Trp) SNV Likely pathogenic 424632 rs1064797083 GRCh37: 11:128680533-128680533
GRCh38: 11:128810638-128810638
8 FLI1 NM_002017.5(FLI1):c.203G>T (p.Arg68Leu) SNV Uncertain significance 988011 GRCh37: 11:128628194-128628194
GRCh38: 11:128758299-128758299

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 21:

72
# Symbol AA change Variation ID SNP ID
1 FLI1 p.Arg324Trp VAR_078929 rs773148506
2 FLI1 p.Arg337Gln VAR_078930 rs106479708
3 FLI1 p.Arg337Trp VAR_078931 rs106479708
4 FLI1 p.Tyr343Cys VAR_078932 rs106479708
5 FLI1 p.Lys345Glu VAR_078933 rs106479708

Expression for Bleeding Disorder, Platelet-Type, 21

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 21.

Pathways for Bleeding Disorder, Platelet-Type, 21

GO Terms for Bleeding Disorder, Platelet-Type, 21

Sources for Bleeding Disorder, Platelet-Type, 21

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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