GPS
MCID: GRY002
MIFTS: 51

Gray Platelet Syndrome (GPS) malady

Blood category

Summaries for Gray Platelet Syndrome

Sources:
43NIH Rare Diseases, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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 bruisability, platelet disorders/thrombopathies and thrombocytopenia/thrombopenia. An important gene associated with Gray Platelet Syndrome is NBEAL2 (neurobeachin-like 2), and among its related pathways are A-beta Uptake & Degradation and GP1b-IX-V activation signalling. The compounds jararhagin and slea have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and endothelial, and related mouse phenotypes are skeleton and cardiovascular system.

Wikipedia:64 Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Description from OMIM:47 139090

Aliases & Classifications for Gray Platelet Syndrome

Sources:
61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 49Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


Characteristics (Orphanet epidemiological data):

49
gray platelet syndrome:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

gray platelet syndrome 43 20 22 47 45 49 61
platelet alpha-granule deficiency 43 49
gps 43 49
marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins 43
platelet storage pool deficiency 61
alpha storage pool deficiency 49


External Ids:

OMIM47 139090
MESH via Orphanet36 D055652
ICD10 via Orphanet26 D69.1
SNOMED-CT via Orphanet58 51720005
UMLS via Orphanet62 C0272302

Related Diseases for Gray Platelet Syndrome

Sources:
17GeneCards, 18GeneDecks
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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 111)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome30.6GP5, GP9
2thrombocytopenia30.3GATA1, MASTL, CD40LG, GP9, GP6, GP5
3acute myocardial infarction30.1SPARC, SELP
4hepatitis c29.8CD40LG
5autoimmune thrombocytopenic purpura29.8SELP, GP6
6coronary heart disease29.8GP6, SELP
7n syndrome10.6
8protein s deficiency10.5
9hermansky-pudlak syndrome10.5
10chediak-higashi syndrome10.4
11platelet alpha/delta storage pool deficiency10.4
12thrombasthenia10.4
13acute leukemia10.4
14oculocutaneous albinism10.3
15protein c deficiency10.3
16arteriosclerosis10.3
17b cell deficiency10.3
18t cell deficiency10.3
19albinism10.3
20jacobsen syndrome10.3
21myelodysplastic syndromes10.3
22alpha delta granule deficiency10.3
23glanzmann's thrombasthenia10.3
24platelet storage pool deficiency10.3
25micro syndrome10.3
26adenocarcinoma10.2
27t-cell leukemia10.2
283-m syndrome10.1
29char syndrome10.1
30short syndrome10.1
31genitopatellar syndrome10.1
32bod syndrome10.1
33engraftment syndrome10.1
34splenomegaly10.1
35bernard-soulier syndrome type c10.1
36decr deficiency10.1
37magic syndrome10.1
38hematopoietic stem cell transplantation10.1
39acute t cell leukemia10.0
40osteoarthritis10.0
41irritable bowel syndrome10.0
42colorectal cancer10.0
43acute lymphoblastic leukemia, childhood10.0
44acute promyelocytic leukemia10.0
45oral cancer10.0
46ischemia10.0SELP
47nephritis10.0CD40LG
48glomerulonephritis10.0CD40LG
49cd40 ligand deficiency10.0CD40LG
50pneumonia10.0SPARC

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



Diseases related to gray platelet syndrome

Clinical Features for Gray Platelet Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

139090

Clinical synopsis from OMIM:

139090

Symptoms:

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

Drugs & Therapeutics for Gray Platelet Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Gray Platelet Syndrome:

id Genetic test Affiliating Genes
1 Gray Platelet Syndrome20 22 NBEAL2

Anatomical Context for Gray Platelet Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Gray Platelet Syndrome:

33
Bone marrow, Endothelial

Animal Models for Gray Platelet Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Gray Platelet Syndrome

Sources:
51PubMed
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Articles related to Gray Platelet Syndrome:

(show top 50)    (show all 53)
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
Successful hematopoietic engraftment with gray platelets after allogeneic hematopoietic stem cell transplantation from gray platelet syndrome donor. (23358204)
2013
5
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. (23193541)
2012
6
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (21765413)
2011
7
Successful pregnancy and delivery in a woman with gray platelet syndrome. (21443042)
2011
8
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (21765412)
2011
9
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (21263149)
2011
10
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (21765411)
2011
11
Gray platelet syndrome. (21800352)
2011
12
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
13
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. (22102272)
2011
14
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (20709904)
2010
15
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (20524979)
2010
16
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. (18612537)
2008
17
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
18
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. (17209061)
2007
19
Why the disorder induced by GATA1 Arg216Gln mutation should be called &quot;X-linked thrombocytopenia with thalassemia&quot; rather than &quot;X-linked gray platelet syndrome&quot;. (17881640)
2007
20
The gray platelet syndrome: clinical spectrum of the disease. (16442192)
2007
21
Expression of cellular prion protein on platelets from patients with gray platelet or Hermansky-Pudlak syndrome and the protein's association with alpha-granules. (16885055)
2006
22
Neutrophil secretory defect in the gray platelet syndrome: a new case. (16308182)
2006
23
Gray Platelet Syndrome in a Somalian family. (17127480)
2006
24
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. (16102114)
2005
25
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. (15010364)
2004
26
Neutrophils in the gray platelet syndrome. (15370105)
2004
27
Gray platelet syndrome presenting as menorrhagia. (12627861)
2003
28
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. (12463604)
2002
29
Newly recognized cellular abnormalities in the gray platelet syndrome. (11520786)
2001
30
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. (11708859)
2001
31
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
32
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. (7504696)
1993
33
Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome. (2040691)
1991
34
Gray platelet syndrome: relationship between morphological abnormality of the dense tubular system (DTS) and intracellular Ca++ mobilization in the platelet. (2629468)
1989
35
Gray platelet syndrome. (2763381)
1989
36
Treatment of gray platelet syndrome. (3187941)
1988
37
Gray platelet syndrome in the elderly. (3414674)
1988
38
Thrombin-induced platelet factor Va formation in patients with a gray platelet syndrome. (2445043)
1987
39
Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. (2443536)
1987
40
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
41
Megakaryocytes and myelofibrosis in gray platelet syndrome. (3615193)
1987
42
Morphological changes of platelets during the process of platelet aggregation in gray platelet syndrome. (3775766)
1986
43
Gray platelet syndrome: immunoelectron microscopic localization of fibrinogen and von Willebrand factor in platelets and megakaryocytes. (3877532)
1985
44
Gray platelet syndrome: selective alpha-granule deficiency and thrombocytopenia due to increased platelet turnover. (3159448)
1985
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

Genetic Variations for Gray Platelet Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Gray Platelet Syndrome:

63
id Symbol AA change Variation 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

Expression for genes affiliated with Gray Platelet Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Gray Platelet Syndrome

Search GEO for disease gene expression data for Gray Platelet Syndrome.

Pathways for genes affiliated with Gray Platelet Syndrome

Sources:
53R&D Systems, 54Reactome, 30KEGG, 50PharmGKB
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Compounds for genes affiliated with Gray Platelet Syndrome

Sources:
45Novoseek, 11DrugBank, 24HMDB, 50PharmGKB, 29IUPHAR, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1jararhagin4510.1GP6, CD36
2slea4510.1SELP, CD40LG
3tirofiban45 1111.0SELP, CD40LG
4fluorochrome4510.0CD40LG, SELP
5ristocetin459.9SELP, GP6, GP9
6pmma459.9CD40LG, SELP
7thromboxane45 2410.9GATA1, GP6, SELP
8alizarin459.9SPARC, CD36
9fucoidan459.9SELP, CD36
10ppack459.8CD40LG, CD36, SELP
11clopidogrel50 45 11 2412.8CD40LG, CD36, SELP
12mycophenolate mofetil45 50 1111.8CD40LG, CD36, SELP
13silicone459.8CD36, CD40LG
14dextran sulfate459.8SELP, CD36, CD40LG
15abciximab45 1110.8SELP, CD40LG
16aspartate459.7GATA1, CD40LG, GP9
17pyridinoline459.6SPARC, CD36
18dmso459.5GATA1, CD36, SELP
19phosphatidylserine45 29 1111.5SELP, GP6, CD36, CD40LG
20creatinine459.3SELP, GP6, CD36, CD40LG
21aspirin45 50 29 2412.2CD40LG, GP6, GP5, SELP
22titanium459.2SPARC, CD36
23genistein45 29 60 2 11 2414.1SPARC, SELP, CD36, CD40LG
24pge2459.1CD40LG, CD36, SELP, SPARC
25adp45 29 2411.1MASTL, CD40LG, GP9, GP6, SELP
26heparin45 29 11 2412.0SPARC, SELP, CD36, CD40LG
27lactate458.9CD40LG, GP5, SELP, SPARC
28vegf458.9GATA1, CD40LG, CD36, SELP, SPARC
29estrogen458.8GATA1, CD40LG, CD36, SELP, SPARC
30retinoic acid45 249.8SPARC, SELP, CD36, CD40LG, GATA1
31cysteine458.5CD40LG, CD36, GP9, GP6, SELP, SPARC
32fibrinogen458.4SPARC, SELP, GP5, GP6, GP9, CD40LG

GO Terms for genes affiliated with Gray Platelet Syndrome

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:0310929.6SELP, CD36
2external side of plasma membraneGO:0098979.4SELP, CD36, CD40LG
3integral to plasma membraneGO:0058878.2CD40LG, CD36, GP9, GP6, GP5, SELP
4plasma membraneGO:0058866.5SELP, C6orf25, TREML1, CD40LG, CD36, CLDN5

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

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

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:0055189.0SPARC, GP5, GP6

Products for genes affiliated with Gray Platelet Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Gray Platelet Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet