BDPLT17
MCID: BLD125
MIFTS: 36

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 56
Platelet-Type Bleeding Disorder 17 12 29 6 15
Bdplt17 56 12 73
Thrombasthenia-Thrombocytopenia, Hereditary 56 71
Hereditary Thrombasthenia-Thrombocytopenia 12 73
Autosomal Dominant Macrothrombocytopenia Gfi1b-Related 73
Autosomal Dominant Platelet Disorder Gfi1b-Related 73
Bleeding Disorder, Platelet-Type 17 73
Bleeding Disorder, Platelet Type 17 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
autosomal recessive (in 1 patient)

Miscellaneous:
variable severity
onset in childhood
increased bleeding after surgery


HPO:

31
bleeding disorder, platelet-type, 17:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111049
OMIM 56 187900
OMIM Phenotypic Series 56 PS231200
NCIt 49 C84741
SNOMED-CT 67 51720005
ICD10 32 D69.1
MedGen 41 C1861194
UMLS 71 C0272302 C1861194

Summaries for Bleeding Disorder, Platelet-Type, 17

UniProtKB/Swiss-Prot : 73 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, also known as platelet-type bleeding disorder 17, is related to diabetes mellitus, ketosis-prone and brachydactyly, type c. An important gene associated with Bleeding Disorder, Platelet-Type, 17 is GFI1B (Growth Factor Independent 1B Transcriptional Repressor). Affiliated tissues include bone, bone marrow and cervix, and related phenotypes are gastrointestinal hemorrhage and thrombocytopenia

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 : 56 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). (187900)

Related Diseases for Bleeding Disorder, Platelet-Type, 17

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 17:



Diseases related to Bleeding Disorder, Platelet-Type, 17

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

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

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 gastrointestinal hemorrhage 31 HP:0002239
2 thrombocytopenia 31 HP:0001873
3 epistaxis 31 HP:0000421
4 bruising susceptibility 31 HP:0000978
5 petechiae 31 HP:0000967
6 prolonged bleeding time 31 HP:0003010
7 myelofibrosis 31 HP:0011974
8 ecchymosis 31 HP:0031364
9 reduced prothrombin consumption 31 HP:0003337
10 absence of alpha granules 31 HP:0012526

Symptoms via clinical synopsis from OMIM:

56
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

GenomeRNAi Phenotypes related to Bleeding Disorder, Platelet-Type, 17 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Apoptosis resistance GR00093-A-0 8.96 PTPRN PTPRN2
2 Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) GR00104-A-0 8.62 PTPRN PTPRN2

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:

40
Bone, Bone Marrow, Cervix, Uterus

Publications for Bleeding Disorder, Platelet-Type, 17

Articles related to Bleeding Disorder, Platelet-Type, 17:

# Title Authors PMID Year
1
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B. 56 6
28041820 2017
2
GFI1B mutation causes a bleeding disorder with abnormal platelet function. 56 6
23927492 2013
3
Hereditary thrombocytopathy: a familial bleeding disorder due to impaired platelet coagulant activity. 56 6
1065298 1976
4
Familial thrombopathic thrombocytopenia. 56 6
5681484 1968
5
A dominant-negative GFI1B mutation in the gray platelet syndrome. 56
24325358 2014
6
Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B. 61
29055225 2017

Variations for Bleeding Disorder, Platelet-Type, 17

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GFI1B NM_001135031.2(GFI1B):c.742dup (p.His248fs)duplication Pathogenic 88891 rs397989794 9:135866321-135866322 9:132990934-132990935
2 GFI1B NM_001135031.2(GFI1B):c.721C>T (p.Gln241Ter)SNV Pathogenic 102428 rs587777211 9:135866303-135866303 9:132990916-132990916
3 GFI1B NM_001135031.2(GFI1B):c.655A>T (p.Lys219Ter)SNV Pathogenic 438346 rs1554724694 9:135865273-135865273 9:132989886-132989886
4 GFI1B NM_001135031.2(GFI1B):c.785T>C (p.Leu262Pro)SNV Pathogenic 438347 rs775963992 9:135866367-135866367 9:132990980-132990980
5 GFI1B NM_004188.6(GFI1B):c.568C>T (p.Arg190Trp)SNV Uncertain significance 417959 rs144046935 9:135864505-135864505 9:132989118-132989118

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

Cellular components related to Bleeding Disorder, Platelet-Type, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear matrix GO:0016363 9.26 GFI1B GFI1
2 secretory granule GO:0030141 9.16 PTPRN2 PTPRN
3 transport vesicle membrane GO:0030658 8.96 PTPRN2 PTPRN
4 transcriptional repressor complex GO:0017053 8.8 INSM2 INSM1 GFI1

Biological processes related to Bleeding Disorder, Platelet-Type, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of transcription by RNA polymerase II GO:0000122 9.46 INSM2 INSM1 GFI1B GFI1
2 dephosphorylation GO:0016311 9.37 PTPRN2 PTPRN
3 neuron differentiation GO:0030182 9.32 INSM2 INSM1
4 peptidyl-tyrosine dephosphorylation GO:0035335 9.26 PTPRN2 PTPRN
5 regulation of cell cycle process GO:0010564 8.96 INSM2 INSM1
6 insulin secretion involved in cellular response to glucose stimulus GO:0035773 8.62 PTPRN2 PTPRN

Molecular functions related to Bleeding Disorder, Platelet-Type, 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphatase activity GO:0016791 9.26 PTPRN2 PTPRN
2 protein tyrosine phosphatase activity GO:0004725 9.16 PTPRN2 PTPRN
3 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.13 INSM2 INSM1 GFI1
4 nucleic acid binding GO:0003676 8.92 INSM2 INSM1 GFI1B GFI1

Sources for Bleeding Disorder, Platelet-Type, 17

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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