GPS
MCID: GRY002
MIFTS: 60

Gray Platelet Syndrome (GPS) malady

Genetic diseases, Rare diseases, Blood diseases categories

Summaries for Gray Platelet Syndrome

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44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 Gray platelet syndrome (gps) is a rare inherited bleeding disorder characterized by platelets that have a gray appearance, severe thrombocytopenia, myelofibrosis, and splenomegaly. about 60 cases from various populations around the world have been described in the literature to date. gps results from the absence or reduction of alpha-granules in platelets, which store proteins that promote platelet adhesiveness and wound healing when secreted during an injury. gps is caused by mutations in the nbeal2 gene and inherited in an autosomal recessive manner.  last updated: 10/3/2011

MalaCards: Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bernard-soulier syndrome and thrombocytopenia, and has symptoms including bladder/vesical lesions/glomerulations/petechiae, metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea and hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding. An important gene associated with Gray Platelet Syndrome is NBEAL2 (neurobeachin-like 2), and among its related pathways are A-beta Uptake and Degradation and GP1b-IX-V activation signalling. The compounds jararhagin and slea have been mentioned in the context of this disorder. Affiliated tissues include endothelial, bone marrow and bone, and related mouse phenotypes are integument and skeleton.

Wikipedia:66 Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Description from OMIM:48 139090,187900

Aliases & Classifications for Gray Platelet Syndrome

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63UMLS, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 50Orphanet, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

50
gray platelet syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

gray platelet syndrome 44 21 23 48 46 50 63
platelet alpha-granule deficiency 44 50
gps 44 50
marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins 44
platelet storage pool deficiency 63
alpha storage pool deficiency 50


External Ids:

MESH via Orphanet37 D055652
ICD10 via Orphanet27 D69.1
SNOMED-CT via Orphanet60 51720005
UMLS via Orphanet64 C0272302

Related Diseases for Gray Platelet Syndrome

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18GeneCards, 19GeneDecks
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Diseases related to Gray Platelet Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 117)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome30.8GP5, GP9
2thrombocytopenia30.1GP6, GP5, SPARC, CD40LG, GATA1, MASTL
3autoimmune thrombocytopenic purpura29.8SELP, GP6
4leukemia10.5
5thrombasthenia10.4
6hiv-110.4
7glanzmann's thrombasthenia10.3
8breast cancer10.3
9acute leukemia10.2
10adenocarcinoma10.2
11hepatocellular carcinoma10.2
12myeloma10.2
13platelet storage pool deficiency10.1
14acute myocardial infarction10.1
15myelofibrosis10.1
16myocardial infarction10.1
17genitopatellar syndrome10.1
18splenomegaly10.1
19bernard-soulier syndrome type c10.1
20bleeding disorder, platelet-type, 1710.1
21endotheliitis10.1
22hematopoietic stem cell transplantation10.1
23lymphoblastic leukemia10.1
24purpura10.1
25blood platelet disease10.1GP9, GP5
26thrombocytopenia due to platelet alloimmunization10.1SELP, GP5
27osteofibrous dysplasia10.1SPARC, CD36
28hemorrhagic thrombocythemia10.1SELP, GATA1
29megakaryocytic leukemia10.1GATA1, CD36
30cerebral malaria10.0CD36, SELP
31osteogenesis imperfecta10.0CD36, SPARC
32osteoarthritis10.0
33irritable bowel syndrome10.0
34colorectal cancer10.0
35lung cancer10.0
36melanoma10.0
37obesity10.0
38otitis externa10.0
39acute promyelocytic leukemia10.0
40oral cancer10.0
41cervix uteri carcinoma in situ10.0GP5, GP6
42antiphospholipid syndrome10.0SELP, CD40LG
43systemic scleroderma10.0SPARC, CD40LG, CD36
44bone carcinoma10.0CD36, SPARC
45myeloproliferative disorder10.0SELP, GATA1, GP6
46thromboembolism10.0GP6, SELP
47factor v leiden thrombophilia10.0SELP, GP9, GP6
48atherosclerosis10.0CD36, CD40LG, SELP, SPARC
49coronary artery disease10.0GP6, SELP, SPARC
50rheumatoid arthritis9.9SPARC, SELP, CD36, C6orf25, CD40LG

Graphical network of the top 20 diseases related to Gray Platelet Syndrome:



Diseases related to gray platelet syndrome

Symptoms for Gray Platelet Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

139090

Clinical features from OMIM:

139090,187900

Symptoms:

50 (show all 10)
  • bladder/vesical lesions/glomerulations/petechiae
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • hemorrhage/hemorrhagic syndrome/excessive/long-lasting bleeding
  • bruisability
  • epistaxis/nose bleeding
  • platelet disorders/thrombopathies
  • early death in adulthood
  • myelodysplastic syndrome
  • thrombocytopenia/thrombopenia
  • splenomegaly

Drugs & Therapeutics for Gray Platelet Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Gray Platelet Syndrome

Drug clinical trials:

Search ClinicalTrials for Gray Platelet Syndrome

Search NIH Clinical Center for Gray Platelet Syndrome

Search CenterWatch for Gray Platelet Syndrome

Genetic Tests for Gray Platelet Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Gray Platelet Syndrome:

id Genetic test Affiliating Genes
1 Gray Platelet Syndrome21 23 NBEAL2

Anatomical Context for Gray Platelet Syndrome

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34MalaCards
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MalaCards organs/tissues related to Gray Platelet Syndrome:

34
Endothelial, Bone marrow, Bone

Animal Models for Gray Platelet Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Gray Platelet Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.5GFI1B, SELP, GATA1, CD40LG, TREML1
2MP:00053908.3SPARC, NBEAL2, SELP, GATA1, CD40LG, CD36
3MP:00053848.2GFI1B, NBEAL2, SELP, MASTL, GATA1, CD40LG
4MP:00107688.0CD36, CD40LG, GATA1, MASTL, CLDN5, SELP
5MP:00053858.0GFI1B, SELP, CLDN5, GATA1, CD40LG, CD36
6MP:00053877.7SPARC, GFI1B, NBEAL2, SELP, GATA1, CD40LG
7MP:00053977.4SPARC, GP6, GFI1B, NBEAL2, SELP, GATA1
8MP:00053766.9TREML1, SPARC, GP5, GP6, GFI1B, NBEAL2

Publications for Gray Platelet Syndrome

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53PubMed
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Articles related to Gray Platelet Syndrome:

(show top 50)    (show all 51)
idTitleAuthorsYear
1
A dominant-negative GFI1B mutation in the gray platelet syndrome. (24325358)
2014
2
Gray platelet syndrome. (23427340)
2013
3
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. (23863626)
2013
4
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. (23193541)
2012
5
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (21765413)
2011
6
Successful pregnancy and delivery in a woman with gray platelet syndrome. (21443042)
2011
7
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (21765412)
2011
8
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (21263149)
2011
9
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (21765411)
2011
10
Gray platelet syndrome. (21800352)
2011
11
Expanding perfusion across disciplines: the use of thrombelastography technology to reduce risk in an obstetrics patient with Gray Platelet Syndrome--a case study. (21227981)
2011
12
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. (22102272)
2011
13
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (20709904)
2010
14
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (20524979)
2010
15
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. (18612537)
2008
16
Defective platelet responsiveness to thrombin and protease-activated receptors agonists in a novel case of gray platelet syndrome: correlation between the platelet defect and the alpha-granule content in the patient and four relatives. (17137471)
2007
17
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. (17209061)
2007
18
The gray platelet syndrome: clinical spectrum of the disease. (16442192)
2007
19
Neutrophil secretory defect in the gray platelet syndrome: a new case. (16308182)
2006
20
Gray Platelet Syndrome in a Somalian family. (17127480)
2006
21
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. (16102114)
2005
22
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. (15010364)
2004
23
Neutrophils in the gray platelet syndrome. (15370105)
2004
24
Gray platelet syndrome presenting as menorrhagia. (12627861)
2003
25
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. (12463604)
2002
26
Newly recognized cellular abnormalities in the gray platelet syndrome. (11520786)
2001
27
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. (11708859)
2001
28
The magic of immersion oil: gray platelet syndrome. (9658735)
1998
29
Platelet alpha granule deficiency associated with decreased P-selectin and selective impairment of thrombin-induced activation in a new patient with gray platelet syndrome (alpha-storage pool deficiency). (9042822)
1997
30
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. (8192152)
1994
31
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. (7504696)
1993
32
Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome. (2040691)
1991
33
Gray platelet syndrome: relationship between morphological abnormality of the dense tubular system (DTS) and intracellular Ca++ mobilization in the platelet. (2629468)
1989
34
Gray platelet syndrome. (2763381)
1989
35
Treatment of gray platelet syndrome. (3187941)
1988
36
Gray platelet syndrome in the elderly. (3414674)
1988
37
Thrombin-induced platelet factor Va formation in patients with a gray platelet syndrome. (2445043)
1987
38
Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. (2443536)
1987
39
Shortening of bleeding time by 1-deamino-8-arginine vasopressin (DDAVP) in the absence of platelet von Willebrand factor in Gray platelet syndrome. (3502198)
1987
40
Megakaryocytes and myelofibrosis in gray platelet syndrome. (3615193)
1987
41
Morphological changes of platelets during the process of platelet aggregation in gray platelet syndrome. (3775766)
1986
42
Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. (3877532)
1985
43
Gray platelet syndrome: selective alpha-granule deficiency and thrombocytopenia due to increased platelet turnover. (3159448)
1985
44
Electron microscopic and functional studies on platelets in gray platelet syndrome. (6484975)
1984
45
Morphological and biochemical confirmation of gray platelet syndrome in two siblings. (6228215)
1983
46
Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome. (6460535)
1982
47
Defective alpha-granule production in megakaryocytes from gray platelet syndrome: ultrastructural studies of bone marrow cells and megakaryocytes growing in culture from blood precursors. (7468753)
1981
48
Gray platelet syndrome: alpha-granule deficiency. Its influence on platelet function. (6458643)
1981
49
Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules. (6156948)
1980
50
Gray platelet syndrome. A variety of qualitative platelet disorder. (5129551)
1971

Variations for Gray Platelet Syndrome

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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Gray Platelet Syndrome:

65
id Symbol AA change Variation ID SNP ID
1NBEAL2p.Leu388ProVAR_066976
2NBEAL2p.Glu643ValVAR_066977
3NBEAL2p.Trp677ArgVAR_066978
4NBEAL2p.Glu1833LysVAR_066980
5NBEAL2p.Arg1839CysVAR_066981
6NBEAL2p.Pro2100LeuVAR_066982
7NBEAL2p.His2263TyrVAR_066983
8NBEAL2p.Ser2269LeuVAR_066984

Clinvar genetic disease variations for Gray Platelet Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1NBEAL2NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
2NBEAL2NBEAL2, SER294TERsingle nucleotide variantPathogenic
3NBEAL2NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro)single nucleotide variantPathogenicrs387907113GRCh37Chr 3, 47035476: 47035476
4NBEAL2NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val)single nucleotide variantPathogenicrs387907114GRCh37Chr 3, 47037233: 47037233
5NBEAL2NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu)single nucleotide variantPathogenicrs387907115GRCh37Chr 3, 47046466: 47046466
6NBEAL2NBEAL2, TRP607TERundetermined variantPathogenic
7NBEAL2NBEAL2, 1-BP DUP, 5413GduplicationPathogenic

Expression for genes affiliated with Gray Platelet Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Gray Platelet Syndrome

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Pathways for genes affiliated with Gray Platelet Syndrome

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51PathCards, 55R&D Systems, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 54QIAGEN, 52PharmGKB
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Compounds for genes affiliated with Gray Platelet Syndrome

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46Novoseek, 12DrugBank, 52PharmGKB, 25HMDB, 30IUPHAR, 62Tocris Bioscience, 3BitterDB
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Compounds related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

(show all 40)
idCompoundScoreTop Affiliating Genes
1jararhagin4610.2CD36, GP6
2slea4610.1CD40LG, SELP
3fucoidan4610.1CD36, SELP
4tirofiban46 1211.1CD40LG, SELP
5fluorochrome4610.1SELP, CD40LG
6pmma4610.0CD40LG, SELP
7silicone4610.0CD40LG, CD36
8abciximab46 1211.0CD40LG, SELP
9budesonide46 52 1212.0SELP, CD36
10ristocetin4610.0SELP, GP9, GP6
11thromboxane46 2510.9GATA1, SELP, GP6
12alizarin469.9SPARC, CD36
13ppack469.9SELP, CD40LG, CD36
14dmso469.9CD36, GATA1, SELP
15clopidogrel46 52 25 1212.9CD36, CD40LG, SELP
16mycophenolate mofetil46 52 1211.8CD36, CD40LG, SELP
17dextran sulfate469.8SELP, CD40LG, CD36
18glutaraldehyde469.8CD40LG, CD36
19pyridinoline469.8SPARC, CD36
20titanium469.8SPARC, CD36
21hirudin469.7CD40LG, SELP
22aspartate469.5GP9, SELP, GATA1, CD40LG
23epinephrine46 25 1211.5CD40LG, SELP, GP6
24phosphatidylserine46 30 1211.5GP6, SELP, CD40LG, CD36
25creatinine469.4CD36, CD40LG, SELP, GP6
26aspirin46 52 30 2512.3GP5, GP6, SELP, CD40LG
27genistein46 30 62 3 25 1214.2CD36, CD40LG, SELP, SPARC
28pge2469.2CD36, CD40LG, SELP, SPARC
29adp46 30 2511.2GP6, GP9, SELP, MASTL, CD40LG
30heparin46 30 25 1212.1CD36, CD40LG, SELP, SPARC
31ascorbic acid46 2510.1CD36, CD40LG, SPARC
32dexamethasone46 52 30 1212.0SPARC, SELP, CD40LG, CD36
33lactate469.0CD40LG, SELP, GP5, SPARC
34vitamin d469.0SPARC, GATA1, CD36
35vegf468.9SPARC, SELP, GATA1, CD40LG, CD36
36estrogen468.9SPARC, SELP, GATA1, CD40LG, CD36
37retinoic acid46 259.9SPARC, SELP, GATA1, CD40LG, CD36
38serine468.8CD36, CD40LG, GATA1, GP9, GP6
39cysteine468.6SPARC, GP6, GP9, SELP, CD40LG, CD36
40fibrinogen468.4CD40LG, SELP, GP9, GP6, GP5, SPARC

GO Terms for genes affiliated with Gray Platelet Syndrome

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17Gene Ontology
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Cellular components related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:0310929.6CD36, SELP
2external side of plasma membraneGO:0098979.4CD36, CD40LG, SELP
3integral component of plasma membraneGO:0058878.2GP5, GP6, GP9, SELP, CD40LG, CD36
4plasma membraneGO:0058866.5TREML1, GP5, GP6, GP9, C6orf25, SELP

Biological processes related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1platelet formationGO:03022010.0NBEAL2, GATA1
2leukocyte cell-cell adhesionGO:0071599.8CD40LG, SELP
3blood coagulation, intrinsic pathwayGO:0075979.6GP9, GP5
4positive regulation of interleukin-12 productionGO:0327359.4CD36, CD40LG
5platelet degranulationGO:0025769.3CD36, SELP, SPARC
6cell adhesionGO:0071559.1CD36, GP5, GP9, SELP
7blood coagulationGO:0075967.9GP6, GP9, SELP, GATA1, CD36, SPARC
8platelet activationGO:0301687.4CD36, TREML1, CD40LG, SELP, GP9, GP6

Molecular functions related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:0010859.9GATA1, GFI1B
2collagen bindingGO:0055188.7GP6, GP5, SPARC

Products for genes affiliated with Gray Platelet Syndrome

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Sources for Gray Platelet Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet