BDPLT17
MCID: BLD125
MIFTS: 25

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 74
Thrombasthenia-Thrombocytopenia, Hereditary 57 72
Hereditary Thrombasthenia-Thrombocytopenia 12 74
Autosomal Dominant Macrothrombocytopenia Gfi1b-Related 74
Autosomal Dominant Platelet Disorder Gfi1b-Related 74
Bleeding Disorder, Platelet-Type 17 74
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:
Inheritance autosomal dominant inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111049
NCIt 50 C84741
SNOMED-CT 68 51720005
ICD10 33 D69.1
MedGen 42 C1861194
UMLS 72 C0272302 C1861194

Summaries for Bleeding Disorder, Platelet-Type, 17

UniProtKB/Swiss-Prot : 74 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 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 : 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)

Related Diseases for Bleeding Disorder, Platelet-Type, 17

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

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

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 gastrointestinal hemorrhage 32 HP:0002239
2 thrombocytopenia 32 HP:0001873
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

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

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

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. 8 71
28041820 2017
2
GFI1B mutation causes a bleeding disorder with abnormal platelet function. 8 71
23927492 2013
3
Hereditary thrombocytopathy: a familial bleeding disorder due to impaired platelet coagulant activity. 8 71
1065298 1976
4
Familial thrombopathic thrombocytopenia. 8 71
5681484 1968
5
A dominant-negative GFI1B mutation in the gray platelet syndrome. 8
24325358 2014
6
Generation and characterization of a human iPSC line SANi005-A containing the gray platelet associated heterozygous mutation p.Q287* in GFI1B. 38
29055225 2017

Variations for Bleeding Disorder, Platelet-Type, 17

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GFI1B NM_001135031.2(GFI1B): c.655A> T (p.Lys219Ter) single nucleotide variant Pathogenic rs1554724694 9:135865273-135865273 9:132989886-132989886
2 GFI1B NM_001135031.2(GFI1B): c.785T> C (p.Leu262Pro) single nucleotide variant Pathogenic rs775963992 9:135866367-135866367 9:132990980-132990980
3 GFI1B NM_001135031.2(GFI1B): c.742dup (p.His248fs) duplication Pathogenic rs397989794 9:135866324-135866324 9:132990937-132990937
4 GFI1B NM_001135031.2(GFI1B): c.721C> T (p.Gln241Ter) single nucleotide variant Pathogenic rs587777211 9:135866303-135866303 9:132990916-132990916
5 GFI1B NM_004188.6(GFI1B): c.568C> T (p.Arg190Trp) single nucleotide variant Uncertain significance 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

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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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