BDPLT17
MCID: BLD125
MIFTS: 35

Bleeding Disorder, Platelet-Type, 17 (BDPLT17)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Bleeding Disorder, Platelet-Type, 17

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

Name: Bleeding Disorder, Platelet-Type, 17 57 73
Platelet-Type Bleeding Disorder 17 11 28 5 14
Bdplt17 57 11 73
Thrombasthenia-Thrombocytopenia, Hereditary 57 71
Hereditary Thrombasthenia-Thrombocytopenia 11 73
Autosomal Dominant Macrothrombocytopenia Gfi1b-Related 73
Autosomal Dominant Platelet Disorder Gfi1b-Related 73
Bleeding Disorder, Platelet Type 17 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
variable severity
onset in childhood
increased bleeding after surgery


Classifications:



External Ids:

Disease Ontology 11 DOID:0111049
OMIM® 57 187900
OMIM Phenotypic Series 57 PS231200
NCIt 49 C84741
SNOMED-CT 68 51720005
ICD10 31 D69.1
MedGen 40 C1861194
UMLS 71 C0272302 C1861194

Summaries for Bleeding Disorder, Platelet-Type, 17

UniProtKB/Swiss-Prot: 73 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 myh-9 related disease and amegakaryocytic thrombocytopenia, congenital. An important gene associated with Bleeding Disorder, Platelet-Type, 17 is GFI1B (Growth Factor Independent 1B Transcriptional Repressor). Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are epistaxis and bruising susceptibility

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). (187900) (Updated 08-Dec-2022)

Disease Ontology: 11 A blood platelet 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.

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:

30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis 30 Very rare (1%) HP:0000421
2 bruising susceptibility 30 Very rare (1%) HP:0000978
3 prolonged bleeding time 30 Very rare (1%) HP:0003010
4 myelofibrosis 30 Very rare (1%) HP:0011974
5 macrothrombocytopenia 30 Very rare (1%) HP:0040185
6 impaired epinephrine-induced platelet aggregation 30 Very rare (1%) HP:0008148
7 prolonged bleeding following procedure 30 Very rare (1%) HP:0011890
8 impaired collagen-induced platelet aggregation 30 Very rare (1%) HP:0008320
9 absence of alpha granules 30 Very rare (1%) HP:0012526
10 increased rbc distribution width 30 Very rare (1%) HP:0031965
11 gastrointestinal hemorrhage 30 HP:0002239
12 petechiae 30 HP:0000967
13 ecchymosis 30 HP:0031364
14 reduced prothrombin consumption 30 HP:0003337

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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 28 GFI1B

Anatomical Context for Bleeding Disorder, Platelet-Type, 17

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

MalaCards : Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

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. 57 5
28041820 2017
2
GFI1B mutation causes a bleeding disorder with abnormal platelet function. 57 5
23927492 2013
3
Hereditary thrombocytopathy: a familial bleeding disorder due to impaired platelet coagulant activity. 57 5
1065298 1976
4
Familial thrombopathic thrombocytopenia. 57 5
5681484 1968
5
A dominant-negative GFI1B mutation in the gray platelet syndrome. 57
24325358 2014
6
A novel homozygous GFI1B variant in 2 sisters with thrombocytopenia and severe bleeding tendency. 62
32633597 2021
7
Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B. 62
29055225 2017

Variations for Bleeding Disorder, Platelet-Type, 17

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

5 (show all 16)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GFI1B NM_001377304.1(GFI1B):c.923T>C (p.Leu308Pro) SNV Pathogenic
438347 rs775963992 GRCh37: 9:135866367-135866367
GRCh38: 9:132990980-132990980
2 GFI1B NM_001377304.1(GFI1B):c.793A>T (p.Lys265Ter) SNV Pathogenic
438346 rs1554724694 GRCh37: 9:135865273-135865273
GRCh38: 9:132989886-132989886
3 GFI1B NM_001377304.1(GFI1B):c.880dup (p.His294fs) DUP Pathogenic
88891 rs397989794 GRCh37: 9:135866321-135866322
GRCh38: 9:132990934-132990935
4 GFI1B NM_001377304.1(GFI1B):c.503G>T (p.Cys168Phe) SNV Pathogenic
1695382 GRCh37: 9:135863848-135863848
GRCh38: 9:132988461-132988461
5 GFI1B NM_001377304.1(GFI1B):c.859C>T (p.Gln287Ter) SNV Pathogenic
102428 rs587777211 GRCh37: 9:135866303-135866303
GRCh38: 9:132990916-132990916
6 GFI1B NM_001377304.1(GFI1B):c.520A>G (p.Thr174Ala) SNV Pathogenic
1703853 GRCh37: 9:135864457-135864457
GRCh38: 9:132989070-132989070
7 GFI1B NM_001377304.1(GFI1B):c.692G>T (p.Arg231Leu) SNV Pathogenic
1705843 GRCh37: 9:135865172-135865172
GRCh38: 9:132989785-132989785
8 GFI1B NM_001377304.1(GFI1B):c.551G>C (p.Arg184Pro) SNV Likely Pathogenic
1684454 GRCh37: 9:135864488-135864488
GRCh38: 9:132989101-132989101
9 GFI1B NM_001377304.1(GFI1B):c.521C>T (p.Thr174Ile) SNV Likely Pathogenic
1684412 GRCh37: 9:135864458-135864458
GRCh38: 9:132989071-132989071
10 GFI1B NM_001377304.1(GFI1B):c.758G>A (p.Cys253Tyr) SNV Uncertain Significance
1684450 GRCh37: 9:135865238-135865238
GRCh38: 9:132989851-132989851
11 GFI1B NM_001377304.1(GFI1B):c.551G>A (p.Arg184His) SNV Uncertain Significance
1684451 GRCh37: 9:135864488-135864488
GRCh38: 9:132989101-132989101
12 GFI1B NM_001377304.1(GFI1B):c.568C>T (p.Arg190Trp) SNV Uncertain Significance
417959 rs144046935 GRCh37: 9:135864505-135864505
GRCh38: 9:132989118-132989118
13 GFI1B NM_001377304.1(GFI1B):c.550C>T (p.Arg184Cys) SNV Uncertain Significance
1048772 GRCh37: 9:135864487-135864487
GRCh38: 9:132989100-132989100
14 GFI1B NM_001377304.1(GFI1B):c.981C>G (p.His327Gln) SNV Uncertain Significance
1677259 GRCh37: 9:135866425-135866425
GRCh38: 9:132991038-132991038
15 GFI1B NM_001377304.1(GFI1B):c.581G>A (p.Cys194Tyr) SNV Uncertain Significance
627337 rs753406078 GRCh37: 9:135864518-135864518
GRCh38: 9:132989131-132989131
16 GFI1B NM_001377304.1(GFI1B):c.731del (p.Asp244fs) DEL Uncertain Significance
1338724 GRCh37: 9:135865211-135865211
GRCh38: 9:132989824-132989824

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 ficolin-1-rich granule membrane GO:0101003 9.26 PTPRN2 NBEAL2
2 transcription repressor complex GO:0017053 9.1 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 9.56 INSM2 INSM1 GFI1B GFI1
2 regulation of cell cycle process GO:0010564 8.92 INSM2 INSM1

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription repressor activity, RNA polymerase II-specific GO:0001227 9.63 INSM2 INSM1 GFI1
2 DNA binding GO:0003677 9.35 ZNF711 INSM2 INSM1 GFI1B GFI1
3 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 9.32 ZNF711 INSM2 INSM1 GFI1B GFI1

Sources for Bleeding Disorder, Platelet-Type, 17

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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