BDPLT17
MCID: BLD125
MIFTS: 24

Bleeding Disorder, Platelet-Type, 17 (BDPLT17)

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

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 17

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 17:

Name: Bleeding Disorder, Platelet-Type, 17 57
Platelet-Type Bleeding Disorder 17 12 29 6 15
Bdplt17 57 12 75
Thrombasthenia-Thrombocytopenia, Hereditary 57 73
Hereditary Thrombasthenia-Thrombocytopenia 12 75
Autosomal Dominant Macrothrombocytopenia Gfi1b-Related 75
Autosomal Dominant Platelet Disorder Gfi1b-Related 75
Bleeding Disorder, Platelet-Type 17 75
Bleeding Disorder, Platelet Type 17 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive (in 1 patient)

Miscellaneous:
variable severity
onset in childhood
increased bleeding after surgery


HPO:

32
bleeding disorder, platelet-type, 17:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



Summaries for Bleeding Disorder, Platelet-Type, 17

UniProtKB/Swiss-Prot : 75 Bleeding disorder, platelet-type 17: An autosomal dominant disorder characterized by increased bleeding tendency due to platelet dysfunction, and associated with macrothrombocytopenia and red cell anisopoikilocytosis. Platelets appear abnormal on light microscopy, while electron microscopy shows a heterogeneous decrease of alpha granules within platelets. Bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The severity of bleeding is variable with some affected individuals experiencing spontaneous bleeding while other exhibit only abnormal bleeding with surgery.

MalaCards based summary : Bleeding Disorder, Platelet-Type, 17, is also known as platelet-type bleeding disorder 17. An important gene associated with Bleeding Disorder, Platelet-Type, 17 is GFI1B (Growth Factor Independent 1B Transcriptional Repressor). Affiliated tissues include bone and bone marrow, and related phenotypes are thrombocytopenia and gastrointestinal hemorrhage

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has material basis in heterozygous mutation in the GFI1B gene on chromosome 9q34.

OMIM : 57 Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014). For a discussion of genetic heterogeneity of platelet-type bleeding disorder, see BDPLT1 (231200). (187900)

Related Diseases for Bleeding Disorder, Platelet-Type, 17

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 17

Symptoms via clinical synopsis from OMIM:

57
Hematology:
thrombocytopenia
myelofibrosis
decreased platelet factor 4
decreased beta-thromboglobulin
increased bleeding tendency, moderate to severe
more
Skin Nails Hair Skin:
petechiae
ecchymoses

Head And Neck Nose:
epistaxis

Abdomen Gastrointestinal:
gastrointestinal bleeding


Clinical features from OMIM:

187900

Human phenotypes related to Bleeding Disorder, Platelet-Type, 17:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 thrombocytopenia 32 HP:0001873
2 gastrointestinal hemorrhage 32 HP:0002239
3 epistaxis 32 HP:0000421
4 bruising susceptibility 32 HP:0000978
5 petechiae 32 HP:0000967
6 prolonged bleeding time 32 HP:0003010
7 myelofibrosis 32 HP:0011974
8 ecchymosis 32 HP:0031364
9 reduced prothrombin consumption 32 HP:0003337
10 absence of alpha granules 32 HP:0012526

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 17

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 17

Genetic Tests for Bleeding Disorder, Platelet-Type, 17

Genetic tests related to Bleeding Disorder, Platelet-Type, 17:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 17 29 GFI1B

Anatomical Context for Bleeding Disorder, Platelet-Type, 17

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 17:

41
Bone, Bone Marrow

Publications for Bleeding Disorder, Platelet-Type, 17

Variations for Bleeding Disorder, Platelet-Type, 17

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 17:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GFI1B NM_004188.6(GFI1B): c.880dupC (p.His294Profs) duplication Pathogenic rs397989794 GRCh37 Chromosome 9, 135866324: 135866324
2 GFI1B NM_004188.6(GFI1B): c.880dupC (p.His294Profs) duplication Pathogenic rs397989794 GRCh38 Chromosome 9, 132990937: 132990937
3 GFI1B NM_004188.6(GFI1B): c.859C> T (p.Gln287Ter) single nucleotide variant Pathogenic rs587777211 GRCh37 Chromosome 9, 135866303: 135866303
4 GFI1B NM_004188.6(GFI1B): c.859C> T (p.Gln287Ter) single nucleotide variant Pathogenic rs587777211 GRCh38 Chromosome 9, 132990916: 132990916
5 GFI1B NM_004188.6(GFI1B): c.568C> T (p.Arg190Trp) single nucleotide variant Uncertain significance rs144046935 GRCh38 Chromosome 9, 132989118: 132989118
6 GFI1B NM_004188.6(GFI1B): c.568C> T (p.Arg190Trp) single nucleotide variant Uncertain significance rs144046935 GRCh37 Chromosome 9, 135864505: 135864505
7 GFI1B NM_004188.6(GFI1B): c.793A> T (p.Lys265Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 9, 135865273: 135865273
8 GFI1B NM_004188.6(GFI1B): c.793A> T (p.Lys265Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 9, 132989886: 132989886
9 GFI1B NM_004188.6(GFI1B): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs775963992 GRCh38 Chromosome 9, 132990980: 132990980
10 GFI1B NM_004188.6(GFI1B): c.923T> C (p.Leu308Pro) single nucleotide variant Pathogenic rs775963992 GRCh37 Chromosome 9, 135866367: 135866367

Expression for Bleeding Disorder, Platelet-Type, 17

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 17.

Pathways for Bleeding Disorder, Platelet-Type, 17

GO Terms for Bleeding Disorder, Platelet-Type, 17

Sources for Bleeding Disorder, Platelet-Type, 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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