GPS
MCID: GRY002
MIFTS: 63

Gray Platelet Syndrome (GPS) malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Gray Platelet Syndrome

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NIH Rare Diseases:42 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 based summary: Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bernard-soulier syndrome and autoimmune thrombocytopenic purpura, 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 and Degradation and Integrin alphaIIb beta3 signaling. The compounds jararhagin and slea have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone marrow and bone, and related mouse phenotypes are integument and skeleton.

Genetics Home Reference:21 Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are blood cell fragments involved in blood clotting. People with this condition tend to bruise easily and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding problems are usually mild to moderate, but they have been life-threatening in a few affected individuals.

Wikipedia:65 Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Descriptions from OMIM:46 139090,187900

Aliases & Classifications for Gray Platelet Syndrome

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Sources:
62UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Gray Platelet Syndrome, Aliases & Descriptions:

Name: Gray Platelet Syndrome 42 20 22 21 46 44 48 62
Platelet Alpha-Granule Deficiency 42 21 48
Gps 42 21 48
Platelet Alpha Granule Deficiency 21 62
Deficient Alpha Granule Syndrome 21 62
Platelet Granule Defect 21 62
 
Bdplt4 21 62
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 42
Bleeding Disorder, Platelet-Type, 4 21
Platelet Storage Pool Deficiency 62
Alpha Storage Pool Deficiency 48
Grey Platelet Syndrome 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
gray platelet syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


External Ids:

MESH via Orphanet35 D055652
ICD10 via Orphanet26 D69.1
UMLS via Orphanet63 C0272302

Related Diseases for Gray Platelet Syndrome

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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 127)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome31.2GP5, GP9
2autoimmune thrombocytopenic purpura30.0SELP, GP6
3thrombocytopenia29.2SPARC, GP5, GP6, GP9, SELP, MASTL
4leukemia10.5
5thrombasthenia10.4
6hiv-110.4
7glanzmann's thrombasthenia10.3
8blood platelet disease10.3GP5, GP9
9thrombocytopenia due to platelet alloimmunization10.3GP5, SELP
10breast cancer10.3
11myelofibrosis10.3
12osteofibrous dysplasia10.3CD36, SPARC
13megakaryocytic leukemia10.3GATA1, CD36
14hemorrhagic thrombocythemia10.3GATA1, SELP
15acute leukemia10.2
16gastric cancer10.2
17myeloma10.2
18cerebral malaria10.2SELP, CD36
19adenocarcinoma10.2
20osteogenesis imperfecta10.2CD36, SPARC
21acute myocardial infarction10.1
22hematopoietic stem cell transplantation10.1
23myocardial infarction10.1
24platelet storage pool deficiency10.1
25splenomegaly10.1
26bernard-soulier syndrome type c10.1
27bleeding disorder, platelet-type, 1710.1
28endotheliitis10.1
29acute lymphoblastic leukemia10.1
30hepatocellular carcinoma10.1
31lymphoblastic leukemia10.1
32purpura10.1
33cervix uteri carcinoma in situ10.1GP6, GP5
34antiphospholipid syndrome10.1SELP, CD40LG
35systemic scleroderma10.0SPARC, CD40LG, CD36
36colorectal cancer10.0
37obesity10.0
38osteoarthritis10.0
39irritable bowel syndrome10.0
40hypothyroidism10.0
41lung cancer10.0
42melanoma10.0
43otitis externa10.0
44acute promyelocytic leukemia10.0
45genitopatellar syndrome10.0
46oral cancer10.0
47bone cancer10.0CD36, SPARC
48bone marrow cancer10.0GATA1, SELP, GP6
49thromboembolism10.0SELP, GP6
50factor v leiden thrombophilia9.9SELP, GP9, GP6

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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Symptoms by clinical synopsis from OMIM:

139090

Clinical features from OMIM:

139090,187900

Symptoms:

48 (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

HPO human phenotypes related to Gray Platelet Syndrome:

(show all 21)
id Description Frequency HPO Source Accession
1 bruising susceptibility hallmark (90%) HP:0000978
2 thrombocytopenia hallmark (90%) HP:0001873
3 abnormality of coagulation hallmark (90%) HP:0001928
4 abnormality of the menstrual cycle typical (50%) HP:0000140
5 epistaxis typical (50%) HP:0000421
6 splenomegaly typical (50%) HP:0001744
7 myelodysplasia typical (50%) HP:0002863
8 autosomal dominant inheritance HP:0000006
9 autosomal recessive inheritance HP:0000007
10 menorrhagia HP:0000132
11 epistaxis HP:0000421
12 bruising susceptibility HP:0000978
13 splenomegaly HP:0001744
14 thrombocytopenia HP:0001873
15 prolonged bleeding time HP:0003010
16 progressive disorder HP:0003676
17 impaired collagen-induced platelet aggregation HP:0008320
18 reduced von willebrand factor activity HP:0008330
19 impaired thrombin-induced platelet aggregation HP:0011872
20 myelofibrosis HP:0011974
21 reduced quantity of von willebrand factor HP:0012147

Drugs & Therapeutics for Gray Platelet Syndrome

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Drug clinical trials:

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Genetic Tests for Gray Platelet Syndrome

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Genetic tests related to Gray Platelet Syndrome:

id Genetic test Affiliating Genes
1 Gray Platelet Syndrome20 22 NBEAL2

Anatomical Context for Gray Platelet Syndrome

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MalaCards organs/tissues related to Gray Platelet Syndrome:

32
Neutrophil, Bone marrow, Bone, Endothelial

Animal Models for Gray Platelet Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Gray Platelet Syndrome:

36
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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Articles related to Gray Platelet Syndrome:

(show top 50)    (show all 55)
idTitleAuthorsYear
1
GFI1B Mutation Causes Autosomal Dominant Gray Platelet Syndrome. (24635673)
2014
2
Gray Platelet Syndrome: Pro-inflammatory megakaryocytes and I+-granule loss cause myelofibrosis and confer resistance to cancer metastasis in mice. (25258341)
2014
3
A case of gray platelet syndrome masked by immune thrombocytopenia at presentation. (24577417)
2014
4
A dominant-negative GFI1B mutation in the gray platelet syndrome. (24325358)
2014
5
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome. (25003009)
2013
6
Gray platelet syndrome. (23427340)
2013
7
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. (23863626)
2013
8
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. (23193541)
2012
9
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (21765413)
2011
10
Successful pregnancy and delivery in a woman with gray platelet syndrome. (21443042)
2011
11
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (21765412)
2011
12
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (21263149)
2011
13
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (21765411)
2011
14
Gray platelet syndrome. (21800352)
2011
15
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
16
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (20709904)
2010
17
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (20524979)
2010
18
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. (18612537)
2008
19
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
20
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. (17209061)
2007
21
Neutrophil secretory defect in the gray platelet syndrome: a new case. (16308182)
2006
22
Gray Platelet Syndrome in a Somalian family. (17127480)
2006
23
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. (16102114)
2005
24
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. (15010364)
2004
25
Neutrophils in the gray platelet syndrome. (15370105)
2004
26
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. (12463604)
2002
27
Newly recognized cellular abnormalities in the gray platelet syndrome. (11520786)
2001
28
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. (11708859)
2001
29
The magic of immersion oil: gray platelet syndrome. (9658735)
1998
30
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
31
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. (8192152)
1994
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
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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UniProtKB/Swiss-Prot genetic disease variations for Gray Platelet Syndrome:

64
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:

6
id Gene Name Type Significance SNP ID Assembly Location
1GFI1BNM_004188.4(GFI1B): c.859C> T (p.Gln287Ter)single nucleotide variantPathogenicGRCh37Chr 9, 135866303: 135866303
2NBEAL2NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
3NBEAL2NBEAL2, SER294TERsingle nucleotide variantPathogenic
4NBEAL2NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro)single nucleotide variantPathogenicrs387907113GRCh37Chr 3, 47035476: 47035476
5NBEAL2NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val)single nucleotide variantPathogenicrs387907114GRCh37Chr 3, 47037233: 47037233
6NBEAL2NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu)single nucleotide variantPathogenicrs387907115GRCh37Chr 3, 47046466: 47046466
7NBEAL2NBEAL2, TRP607TERundetermined variantPathogenic
8NBEAL2NBEAL2, 1-BP DUP, 5413GduplicationPathogenic
9GFI1BNM_004188.4(GFI1B): c.880dupC (p.His294Profs)duplicationPathogenicrs397989794GRCh37Chr 9, 135866324: 135866325

Expression for genes affiliated with Gray Platelet Syndrome

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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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Compounds for genes affiliated with Gray Platelet Syndrome

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1jararhagin4410.2GP6, CD36
2slea4410.1CD40LG, SELP
3fucoidan4410.1CD36, SELP
4tirofiban44 1111.1SELP, CD40LG
5fluorochrome4410.1CD40LG, SELP
6pmma4410.0SELP, CD40LG
7silicone4410.0CD36, CD40LG
8abciximab44 1111.0SELP, CD40LG
9ristocetin4410.0GP6, SELP, GP9
10budesonide44 50 1111.9SELP, CD36
11thromboxane44 2410.9GATA1, SELP, GP6
12alizarin449.9CD36, SPARC
13ppack449.9SELP, CD40LG, CD36
14dmso449.9GATA1, CD36, SELP
15clopidogrel44 50 24 1112.9CD36, SELP, CD40LG
16glutaraldehyde449.9CD36, CD40LG
17mycophenolate mofetil44 50 1111.8CD36, CD40LG, SELP
18dextran sulfate449.8CD40LG, CD36, SELP
19pyridinoline449.8SPARC, CD36
20titanium449.8CD36, SPARC
21hirudin449.7CD40LG, SELP
22aspartate449.5SELP, CD40LG, GP9, GATA1
23epinephrine44 24 1111.5CD40LG, SELP, GP6
24phosphatidylserine44 28 1111.5CD36, SELP, GP6, CD40LG
25creatinine449.4CD36, CD40LG, GP6, SELP
26aspirin44 50 28 2412.3CD40LG, SELP, GP6, GP5
27genistein44 28 61 2 24 1114.2SELP, SPARC, CD40LG, CD36
28pge2449.2SPARC, SELP, CD36, CD40LG
29adp44 28 2411.2GP6, CD40LG, SELP, GP9, MASTL
30heparin44 28 24 1112.1CD40LG, SELP, SPARC, CD36
31ascorbic acid44 2410.1CD36, CD40LG, SPARC
32dexamethasone44 50 28 1112.0SELP, CD40LG, SPARC, CD36
33lactate449.0SPARC, CD40LG, SELP, GP5
34vitamin d449.0SPARC, CD36, GATA1
35vegf448.9CD36, SELP, GATA1, CD40LG, SPARC
36estrogen448.9CD36, CD40LG, GATA1, SELP, SPARC
37retinoic acid44 249.9GATA1, SPARC, CD36, SELP, CD40LG
38serine448.8CD36, GATA1, GP9, GP6, CD40LG
39cysteine448.6SELP, GP9, GP6, SPARC, CD36, CD40LG
40fibrinogen448.4SELP, SPARC, GP5, GP6, GP9, CD40LG

GO Terms for genes affiliated with Gray Platelet Syndrome

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet