GPS
MCID: GRY002
MIFTS: 51

Gray Platelet Syndrome (GPS) malady

Blood diseases category

Summaries for Gray Platelet Syndrome

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42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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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: Gray Platelet Syndrome, also known as platelet alpha-granule deficiency, is related to bernard-soulier syndrome and leukemia, and has symptoms including bruisability, myelodysplastic syndrome and epistaxis/nose bleeding. 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. Related mouse phenotypes are skeleton and immune system.

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

Description from OMIM:46 139090,187900

Aliases & Classifications for Gray Platelet Syndrome

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60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

gray platelet syndrome 42 20 22 46 44 48 60
platelet alpha-granule deficiency 42 48
gps 42 48
marked decrease or absence of alpha-granules and of platelet-specific alpha-granule proteins 42
platelet storage pool deficiency 60
alpha storage pool deficiency 48


External Ids:

MESH via Orphanet35 D055652
ICD10 via Orphanet26 D69.1
SNOMED-CT via Orphanet57 51720005
UMLS via Orphanet61 C0272302

Related Diseases for Gray Platelet Syndrome

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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 112)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome30.6GP5, GP9
2leukemia30.3GP6, CD40LG, GATA1
3thrombocytopenia30.3GATA1, MASTL, CD40LG, GP9, GP6, GP5
4acute myocardial infarction30.1SPARC, SELP
5myocardial infarction30.1GP6, SELP
6ischemia29.7SELP
7pneumonia29.7SPARC
8glomerulonephritis29.7CD40LG
9autoimmune thrombocytopenic purpura29.7SELP, GP6
10hermansky-pudlak syndrome10.5
11chediak-higashi syndrome10.4
12acute leukemia10.3
13glanzmann's thrombasthenia10.3
14breast cancer10.3
15oculocutaneous albinism10.3
16arteriosclerosis10.3
17hypertension10.3
18albinism10.3
19oculocutaneous albinism type 110.3
20platelet storage pool deficiency10.2
21myeloma10.2
22adenocarcinoma10.1
23hepatocellular carcinoma10.1
24myelofibrosis10.1
25genitopatellar syndrome10.1
26bernard-soulier syndrome type c10.1
27childhood leukemia10.1
28lymphoblastic leukemia10.1
29purpura10.1
30osteoarthritis10.0
31irritable bowel syndrome10.0
32drug dependence10.0
33hypothyroidism10.0
34lung cancer10.0
35melanoma10.0
36obesity10.0
37otitis externa10.0
38colorectal cancer10.0
39thrombocytopenia due to platelet alloimmunization10.0GP5, SELP
40blood platelet disease10.0GP5, GP9
41proliferative glomerulonephritis10.0SELP
42megakaryocytic leukemia10.0CD36, GATA1
43monocytic leukemia10.0GATA1, SELP
44osteofibrous dysplasia10.0SPARC, CD36
45hemorrhagic thrombocythemia10.0SELP, GATA1
46hepatitis c10.0CD40LG
47nephritis10.0CD40LG
48cd40 ligand deficiency10.0CD40LG
49cerebral malaria10.0CD36, SELP
50cervix uteri carcinoma in situ10.0GP5, GP6

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



Diseases related to gray platelet syndrome

Clinical Features for Gray Platelet Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

139090,187900

Clinical synopsis from OMIM:

139090

Symptoms:

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

Drugs & Therapeutics for Gray Platelet Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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20GeneTests, 22GTR
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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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Animal Models for Gray Platelet Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Gray Platelet Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.3NBEAL2, SPARC, SELP, CD36, CD40LG, GATA1
2MP:00053877.5GATA1, TREML1, CD40LG, CD36, GFI1B, SELP
3MP:00053857.3GATA1, TREML1, CD40LG, CD36, CLDN5, GFI1B
4MP:00053977.3NBEAL2, GATA1, TREML1, CD40LG, CD36, GP6
5MP:00053766.9GATA1, TREML1, CD40LG, CD36, GP6, GP5

Publications for Gray Platelet Syndrome

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Genetic Variations for Gray Platelet Syndrome

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62UniProtKB/Swiss-Prot
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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

Expression for genes affiliated with Gray Platelet Syndrome

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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

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Sources:
52R&D Systems, 53Reactome, 29KEGG, 49PharmGKB
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Compounds for genes affiliated with Gray Platelet Syndrome

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 49PharmGKB, 28IUPHAR, 59Tocris Bioscience, 2BitterDB
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Compounds related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

(show all 32)
idCompoundScoreTop Affiliating Genes
1jararhagin4410.1CD36, GP6
2slea4410.1CD40LG, SELP
3tirofiban44 1111.1CD40LG, SELP
4fluorochrome4410.0CD40LG, SELP
5ristocetin449.9SELP, GP6, GP9
6pmma449.9SELP, CD40LG
7alizarin449.9SPARC, CD36
8thromboxane44 2410.9SELP, GP6, GATA1
9silicone449.9CD40LG, CD36
10fucoidan449.9SELP, CD36
11ppack449.8CD40LG, CD36, SELP
12clopidogrel49 44 11 2412.8CD40LG, CD36, SELP
13mycophenolate mofetil44 49 1111.8CD40LG, CD36, SELP
14dextran sulfate449.8SELP, CD36, CD40LG
15abciximab44 1110.8SELP, CD40LG
16aspartate449.7GP9, CD40LG, GATA1
17pyridinoline449.6CD36, SPARC
18dmso449.5GATA1, CD36, SELP
19phosphatidylserine44 28 1111.5SELP, GP6, CD36, CD40LG
20creatinine449.3CD40LG, CD36, GP6, SELP
21aspirin44 49 28 2412.2SELP, GP5, GP6, CD40LG
22titanium449.2SPARC, CD36
23genistein44 28 59 2 11 2414.1SPARC, SELP, CD36, CD40LG
24pge2449.1SPARC, SELP, CD36, CD40LG
25adp44 28 2411.1MASTL, CD40LG, GP9, GP6, SELP
26heparin44 28 11 2412.0CD40LG, CD36, SELP, SPARC
27lactate448.9SPARC, SELP, GP5, CD40LG
28vegf448.9GATA1, CD40LG, CD36, SELP, SPARC
29estrogen448.8SPARC, SELP, CD36, CD40LG, GATA1
30retinoic acid44 249.8GATA1, CD40LG, CD36, SELP, SPARC
31cysteine448.5CD40LG, CD36, GP9, GP6, SELP, SPARC
32fibrinogen448.4SPARC, SELP, GP5, GP6, GP9, CD40LG

GO Terms for genes affiliated with Gray Platelet Syndrome

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16Gene Ontology
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Cellular components related to Gray Platelet Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule membraneGO:0310929.6SELP, CD36
2external side of plasma membraneGO:0098979.4SELP, CD36, CD40LG
3integral to plasma membraneGO:0058878.3SELP, CD40LG, CD36, GP9, GP6, GP5
4plasma membraneGO:0058866.4C6orf25, TREML1, CD40LG, CD36, CLDN5, GP9

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:0071599.8SELP, CD40LG
3blood coagulation, intrinsic pathwayGO:0075979.7GP5, GP9
4positive regulation of interleukin-12 productionGO:0327359.4CD36, CD40LG
5platelet degranulationGO:0025769.3CD36, SELP, SPARC
6cell adhesionGO:0071559.0CD36, GP9, GP5, SELP
7blood coagulationGO:0075967.9GATA1, CD36, GP9, GP6, GP5, SELP
8platelet activationGO:0301687.4SPARC, TREML1, CD40LG, CD36, GP9, GP6

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

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

Products for genes affiliated with Gray Platelet Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet