BDPLT21
MCID: BLD132
MIFTS: 21

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
Bdplt21 57 75
Bleeding Disorder, Platelet-Type 21 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (1 family)

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


HPO:

32
bleeding disorder, platelet-type, 21:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



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). For a discussion of genetic heterogeneity of platelet-type bleeding disorders, see BDPLT1 (231200). (617443)

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). Affiliated tissues include bone, and related phenotypes are thrombocytopenia and eczema

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
menorrhagia
increased obstetric bleeding

Skin Nails Hair Hair:
alopecia (in some patients)

Head And Neck Teeth:
dental bleeding

Hematology:
enlarged platelets
impaired platelet aggregation
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

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

32
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 very rare (1%) HP:0001873
2 eczema 32 very rare (1%) HP:0000964
3 menorrhagia 32 HP:0000132
4 psoriasiform dermatitis 32 very rare (1%) HP:0003765
5 impaired platelet aggregation 32 HP:0003540

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

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 21:

41
Bone

Publications for Bleeding Disorder, Platelet-Type, 21

Variations for Bleeding Disorder, Platelet-Type, 21

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

75
# 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

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

6 (show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 FLI1 NM_002017.4(FLI1): c.970C> T (p.Arg324Trp) single nucleotide variant Pathogenic rs773148506 GRCh38 Chromosome 11, 128810599: 128810599
2 FLI1 NM_002017.4(FLI1): c.970C> T (p.Arg324Trp) single nucleotide variant Pathogenic rs773148506 GRCh37 Chromosome 11, 128680494: 128680494
3 FLI1 NM_002017.4(FLI1): c.1009C> T (p.Arg337Trp) single nucleotide variant Likely pathogenic rs1064797083 GRCh38 Chromosome 11, 128810638: 128810638
4 FLI1 NM_002017.4(FLI1): c.1009C> T (p.Arg337Trp) single nucleotide variant Likely pathogenic rs1064797083 GRCh37 Chromosome 11, 128680533: 128680533
5 FLI1 NM_002017.4(FLI1): c.1028A> G (p.Tyr343Cys) single nucleotide variant Pathogenic rs1064797084 GRCh38 Chromosome 11, 128810657: 128810657
6 FLI1 NM_002017.4(FLI1): c.1028A> G (p.Tyr343Cys) single nucleotide variant Pathogenic rs1064797084 GRCh37 Chromosome 11, 128680552: 128680552
7 FLI1 NM_001271010.1(FLI1): c.794_797delATTA (p.Asn265Thrfs) deletion Pathogenic rs1064797085 GRCh37 Chromosome 11, 128680516: 128680519
8 FLI1 NM_001271010.1(FLI1): c.794_797delATTA (p.Asn265Thrfs) deletion Pathogenic rs1064797085 GRCh38 Chromosome 11, 128810621: 128810624
9 FLI1 NM_001271012.1(FLI1): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic rs1064797086 GRCh38 Chromosome 11, 128810639: 128810639
10 FLI1 NM_001271012.1(FLI1): c.431G> A (p.Arg144Gln) single nucleotide variant Pathogenic rs1064797086 GRCh37 Chromosome 11, 128680534: 128680534
11 FLI1 NM_001271010.1(FLI1): c.835A> G (p.Lys279Glu) single nucleotide variant Pathogenic rs1064797087 GRCh38 Chromosome 11, 128810662: 128810662
12 FLI1 NM_001271010.1(FLI1): c.835A> G (p.Lys279Glu) single nucleotide variant Pathogenic rs1064797087 GRCh37 Chromosome 11, 128680557: 128680557

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

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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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