MCID: GRY002
MIFTS: 54

Gray Platelet Syndrome malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Gray Platelet Syndrome

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Gray Platelet Syndrome, Aliases & Descriptions:

Name: Gray Platelet Syndrome 45 10 41 20 21 43 47 22 60
Platelet Alpha-Granule Deficiency 41 21 47 60
Gps 41 21 47
Alpha Storage Pool Deficiency 41 47
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 41
Bleeding Disorder, Platelet-Type, 4 21
 
Platelet Alpha Granule Deficiency 21
Deficient Alpha Granule Syndrome 21
Platelet Granule Defect 21
Grey Platelet Syndrome 21
Bdplt4 21


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
gray platelet syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM45 139090
Orphanet47 721
MESH via Orphanet34 D055652
ICD10 via Orphanet26 D69.1
UMLS via Orphanet61 C0272302

Summaries for Gray Platelet Syndrome

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OMIM:45 The gray platelet syndrome (GPS) is a rare inherited disorder characterized by mild to moderate bleeding tendency,... (139090) more...

MalaCards based summary: Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bernard-soulier syndrome, type c and rheumatoid arthritis, and has symptoms including bruising susceptibility, thrombocytopenia and abnormality of coagulation. 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 and endothelial, 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.

NIH Rare Diseases:41 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

Wikipedia:63 Gray platelet syndrome (GPS), or platelet alpha-granule deficiency, is a rare congenital autosomal... more...

Related Diseases for Gray Platelet Syndrome

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Diseases related to Gray Platelet Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 116)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c30.7GP5, GP9
2rheumatoid arthritis29.4CD36, CD40LG, SELP, C6orf25, SPARC
3thrombocytopenia29.2SPARC, GP5, GP6, GP9, SELP, MASTL
4leukemia10.5
5thrombasthenia10.4
6hiv-110.4
7blood platelet disease10.3GP5, GP9
8thrombocytopenia due to platelet alloimmunization10.3GP5, SELP
9breast cancer10.3
10myelofibrosis10.3
11fibrous dysplasia10.3CD36, SPARC
12megakaryocytic leukemia10.3GATA1, CD36
13essential thrombocythemia10.3GATA1, SELP
14acute leukemia10.2
15myeloma10.2
16malaria10.2SELP, CD36
17hepatocellular carcinoma10.2
18adenocarcinoma10.2
19osteogenesis imperfecta10.1CD36, SPARC
20bleeding disorder, platelet-type, 1710.1
21genitopatellar syndrome10.1
22myocardial infarction10.1
23acute myocardial infarction10.1
24hematopoietic stem cell transplantation10.1
25platelet storage pool deficiency10.1
26splenomegaly10.1
27endotheliitis10.1
28glanzmann thrombasthenia10.1
29lymphoblastic leukemia10.1
30purpura10.1
31cervix uteri carcinoma in situ10.1GP6, GP5
32thrombocytopenic purpura, autoimmune10.1SELP, GP6
33colorectal cancer10.0
34lung cancer10.0
35obesity10.0
36osteoarthritis10.0
37irritable bowel syndrome10.0
38hypothyroidism10.0
39otitis externa10.0
40oral cancer10.0
41antiphospholipid syndrome10.0SELP, CD40LG
42systemic scleroderma10.0SPARC, CD40LG, CD36
43bone cancer10.0CD36, SPARC
44bone marrow cancer10.0GATA1, SELP, GP6
45thrombophilia due to thrombin defect10.0SELP, GP6
46factor v leiden thrombophilia9.9SELP, GP9, GP6
47asthma9.9
48sudden infant death syndrome9.9
49obsessive-compulsive disorder9.9
50pancreatic cancer9.9

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

Symptoms:

 47 (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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Search NIH Clinical Center for Gray Platelet Syndrome

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:

31
Neutrophil, Endothelial

Animal Models for Gray Platelet Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Gray Platelet Syndrome:

35
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
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome. (25806575)
2015
2
GFI1B Mutation Causes Autosomal Dominant Gray Platelet Syndrome. (24635673)
2014
3
Gray Platelet Syndrome: Pro-inflammatory megakaryocytes and I+-granule loss cause myelofibrosis and confer resistance to cancer metastasis in mice. (25258341)
2014
4
A case of gray platelet syndrome masked by immune thrombocytopenia at presentation. (24577417)
2014
5
A dominant-negative GFI1B mutation in the gray platelet syndrome. (24325358)
2014
6
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome. (25003009)
2013
7
Gray platelet syndrome. (23427340)
2013
8
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. (23863626)
2013
9
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. (23193541)
2012
10
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (21765413)
2011
11
Successful pregnancy and delivery in a woman with gray platelet syndrome. (21443042)
2011
12
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (21765412)
2011
13
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (21263149)
2011
14
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (21765411)
2011
15
Gray platelet syndrome. (21800352)
2011
16
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
17
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (20709904)
2010
18
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (20524979)
2010
19
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. (18612537)
2008
20
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
21
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. (17209061)
2007
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
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. (12463604)
2002
28
Newly recognized cellular abnormalities in the gray platelet syndrome. (11520786)
2001
29
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. (11708859)
2001
30
The magic of immersion oil: gray platelet syndrome. (9658735)
1998
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 with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. (8192152)
1994
33
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. (7504696)
1993
34
Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome. (2040691)
1991
35
Gray platelet syndrome: relationship between morphological abnormality of the dense tubular system (DTS) and intracellular Ca++ mobilization in the platelet. (2629468)
1989
36
Gray platelet syndrome. (2763381)
1989
37
Treatment of gray platelet syndrome. (3187941)
1988
38
Gray platelet syndrome in the elderly. (3414674)
1988
39
Thrombin-induced platelet factor Va formation in patients with a gray platelet syndrome. (2445043)
1987
40
Gray platelet syndrome. Demonstration of alpha granule membranes that can fuse with the cell surface. (2443536)
1987
41
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
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
Electron microscopic and functional studies on platelets in gray platelet syndrome. (6484975)
1984
46
Morphological and biochemical confirmation of gray platelet syndrome in two siblings. (6228215)
1983
47
Specific protein and glycoprotein deficiencies in platelets isolated from two patients with the gray platelet syndrome. (6460535)
1982
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:

62
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 Variation 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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Search GEO for disease gene expression data for Gray Platelet Syndrome.

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 Suite gene sharing:

(show all 40)
idCompoundScoreTop Affiliating Genes
1jararhagin4310.2CD36, GP6
2slea4310.1CD40LG, SELP
3fucoidan4310.1CD36, SELP
4tirofiban43 1211.1CD40LG, SELP
5fluorochrome4310.1SELP, CD40LG
6pmma4310.0CD40LG, SELP
7silicone4310.0CD40LG, CD36
8abciximab43 1211.0CD40LG, SELP
9budesonide43 49 1212.0SELP, CD36
10ristocetin4310.0SELP, GP9, GP6
11thromboxane43 2410.9GATA1, SELP, GP6
12alizarin439.9SPARC, CD36
13ppack439.9SELP, CD40LG, CD36
14dmso439.9CD36, GATA1, SELP
15clopidogrel43 49 24 1212.9CD36, CD40LG, SELP
16mycophenolate mofetil43 49 1211.8CD36, CD40LG, SELP
17dextran sulfate439.8SELP, CD40LG, CD36
18glutaraldehyde439.8CD40LG, CD36
19pyridinoline439.8SPARC, CD36
20titanium439.8SPARC, CD36
21hirudin439.7CD40LG, SELP
22aspartate439.5GP9, SELP, GATA1, CD40LG
23epinephrine43 24 1211.5CD40LG, SELP, GP6
24phosphatidylserine43 28 1211.5GP6, SELP, CD40LG, CD36
25creatinine439.4CD36, CD40LG, SELP, GP6
26aspirin43 49 28 2412.3GP5, GP6, SELP, CD40LG
27genistein43 28 59 2 24 1214.2CD36, CD40LG, SELP, SPARC
28pge2439.2CD36, CD40LG, SELP, SPARC
29adp43 28 2411.2GP6, GP9, SELP, MASTL, CD40LG
30heparin43 28 24 1212.1CD36, CD40LG, SELP, SPARC
31ascorbic acid43 2410.1CD36, CD40LG, SPARC
32dexamethasone43 49 28 1212.0SPARC, SELP, CD40LG, CD36
33lactate439.0CD40LG, SELP, GP5, SPARC
34vitamin d439.0SPARC, GATA1, CD36
35vegf438.9SPARC, SELP, GATA1, CD40LG, CD36
36estrogen438.9SPARC, SELP, GATA1, CD40LG, CD36
37retinoic acid43 249.9SPARC, SELP, GATA1, CD40LG, CD36
38serine438.8CD36, CD40LG, GATA1, GP9, GP6
39cysteine438.6SPARC, GP6, GP9, SELP, CD40LG, CD36
40fibrinogen438.4CD40LG, SELP, GP9, GP6, GP5, SPARC

GO Terms for genes affiliated with Gray Platelet Syndrome

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Cellular components related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:00310929.6CD36, SELP
2external side of plasma membraneGO:00098979.4CD36, CD40LG, SELP
3integral component of plasma membraneGO:00058878.2GP5, GP6, GP9, SELP, CD40LG, CD36
4plasma membraneGO:00058866.5TREML1, GP5, GP6, GP9, C6orf25, SELP

Biological processes related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1platelet formationGO:003022010.0GATA1, NBEAL2
2leukocyte cell-cell adhesionGO:00071599.8CD40LG, SELP
3blood coagulation, intrinsic pathwayGO:00075979.6GP9, GP5
4positive regulation of interleukin-12 productionGO:00327359.4CD36, CD40LG
5platelet degranulationGO:00025769.3SPARC, SELP, CD36
6cell adhesionGO:00071559.1GP5, GP9, SELP, CD36
7blood coagulationGO:00075967.9SPARC, GP5, GP6, GP9, SELP, GATA1
8platelet activationGO:00301687.4TREML1, SPARC, GP5, GP6, GP9, SELP

Molecular functions related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor bindingGO:00010859.9GATA1, GFI1B
2collagen bindingGO:00055188.7GP6, GP5, SPARC

Products for genes affiliated with Gray Platelet Syndrome

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Sources for Gray Platelet Syndrome

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3CDC
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25ICD10
26ICD10 via Orphanet
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28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
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39NDF-RT
42NINDS
43Novoseek
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46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
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61UMLS via Orphanet