GPS
MCID: GRY002
MIFTS: 55

Gray Platelet Syndrome (GPS) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Gray Platelet Syndrome

About this section
Sources:
11Disease Ontology, 12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 52 11 48 24 25 54 70 27 12 50 39 68
Platelet Alpha-Granule Deficiency 11 48 24 25 54 70 68
Gps 11 48 25 54 70
Bdplt4 11 24 25 70
Platelet-Type Bleeding Disorder 4 11 24
Grey Platelet Syndrome 25 70
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 48
 
Bleeding Disorder, Platelet-Type, 4 25
Bleeding Disorder Platelet-Type 4 70
Platelet Alpha Granule Deficiency 25
Deficient Alpha Granule Syndrome 25
Alpha Storage Pool Deficiency 54
Platelet Granule Defect 25

Characteristics:

Orphanet epidemiological data:

54
gray platelet syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood

HPO:

64
gray platelet syndrome:
Inheritance: autosomal dominant inheritance, autosomal recessive inheritance
Onset and clinical course: progressive

Classifications:



External Ids:

OMIM52 139090
Disease Ontology11 DOID:0111044
ICD1030 D69.1
MeSH39 D055652
Orphanet54 ORPHA721
MESH via Orphanet40 D055652
UMLS via Orphanet69 C0272302
ICD10 via Orphanet31 D69.1
MedGen37 C0272302

Summaries for Gray Platelet Syndrome

About this section
OMIM:52 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 genitopatellar syndrome and glanzmann thrombasthenia, and has symptoms including menorrhagia, epistaxis and bruising susceptibility. An important gene associated with Gray Platelet Syndrome is NBEAL2 (Neurobeachin Like 2), and among its related pathways are Malaria and Integrin alphaIIb beta3 signaling. Affiliated tissues include neutrophil, endothelial and bone, and related mouse phenotypes are integument and cellular.

Disease Ontology:11 An inherited blood coagulation disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material basis in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.

Genetics Home Reference:25 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:48 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

UniProtKB/Swiss-Prot:70 Gray platelet syndrome: A rare platelet disorder characterized by a selective deficiency in the number and contents of platelet alpha-granules. It is associated with mild to moderate bleeding tendency and moderate thrombocytopenia. The platelets are enlarged and have a gray appearance on light microscopy of Wright-stained peripheral blood smears due to decreased granules.

Wikipedia:71 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 all 37)
idRelated DiseaseScoreTop Affiliating Genes
1genitopatellar syndrome11.6
2glanzmann thrombasthenia11.2
3bleeding disorder, platelet-type, 1111.0
4bernard-soulier syndrome, type c10.9
5bleeding disorder, platelet-type, 1710.9
6vcl-related dilated cardiomyopathy10.2SELP, VWF
7hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.2CD40LG, SELP
8alpha-2-macroglobulin deficiency10.2GP6, VWF
9atrophic nonflaccid tympanic membrane10.1GP6, SELP, VWF
10severe nonproliferative diabetic retinopathy10.1CD40LG, SELP, VWF
11bone development disease10.1GP6, SELP, VWF
12colonic benign neoplasm10.1CD40LG, VWF
13pyridoxamine 5'-phosphate oxidase deficiency10.1GP9, SELP, VWF
14mental depression10.1CD40LG, GP9, SELP
15prostatic hypertrophy10.0CD36, SELP, VWF
16hemangioma of orbit10.0CD36, CD40LG
17ovarian mesodermal adenosarcoma10.0GP5, GP6
18ocular hyperemia10.0CD40LG, GP9, SELP, VWF
19akinetic mutism9.9CD36, SPARC
20tracheal disease9.9GATA1, GP9, MASTL, VWF
21thrombocytopenia9.9
22acute inflammation of lacrimal passage9.9GP5, GP6
23uterine cervix leukoplakia9.9GP5, GP6
24basilar artery insufficiency9.9CD36, GATA1, SELP, VWF
25vaginal adenosarcoma9.8GP5, GP6
26myelofibrosis9.8
27immunodeficiency 219.7GP5, GP6, GP9, NBEAL2, VWF
28myeloproliferative neoplasm9.7CD40LG, GP5, GP9, SELP, VWF
29myocardial infarction9.6
30autoimmune lymphoproliferative syndrome9.6
31acute myocardial infarction9.6
32hematopoietic stem cell transplantation9.6
33lymphoproliferative syndrome9.6
34meningitis9.6
35splenomegaly9.6
36endotheliitis9.6
37osteogenesis imperfecta, type vii8.1CD36, CD40LG, CLDN5, GATA1, GFI1B, GP5

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



Diseases related to gray platelet syndrome

Symptoms & Phenotypes for Gray Platelet Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

139090

Clinical features from OMIM:

139090

Human phenotypes related to Gray Platelet Syndrome:

 64 (show all 11)
id Description HPO Frequency HPO Source Accession
1 menorrhagia64 HP:0000132
2 epistaxis64 HP:0000421
3 bruising susceptibility64 HP:0000978
4 splenomegaly64 HP:0001744
5 thrombocytopenia64 HP:0001873
6 prolonged bleeding time64 HP:0003010
7 impaired collagen-induced platelet aggregation64 HP:0008320
8 reduced von willebrand factor activity64 HP:0008330
9 impaired thrombin-induced platelet aggregation64 HP:0011872
10 myelofibrosis64 HP:0011974
11 reduced quantity of von willebrand factor64 HP:0012147

MGI Mouse Phenotypes related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.6CD40LG, GATA1, GFI1B, GP6, PLCG2, SELP
2MP:00053847.9CD36, CD40LG, GATA1, GFI1B, MASTL, MPIG6B
3MP:00053857.9CD36, CD40LG, CLDN5, GATA1, GFI1B, PLCG2
4MP:00053907.2CD36, CD40LG, GATA1, MPIG6B, NBEAL2, PLCG2
5MP:00053877.1CD36, CD40LG, GATA1, GFI1B, GP6, MPIG6B
6MP:00053976.9CD36, CD40LG, GATA1, GFI1B, GP6, GP9
7MP:00053766.5CD36, CD40LG, GATA1, GFI1B, GP5, GP6

Drugs & Therapeutics for Gray Platelet Syndrome

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Drugs for Gray Platelet Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 52)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
MesnaapprovedPhase 22633375-50-6598
Synonyms:
2-Mercaptoethane
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
2-mercaptoethanesulfonic acid
2-mercaptoethanesulphonic acid
2-mercaptoethylsulfonate
2-sulfanylethylsulfonate
 
CoM
Coenzima M
Coenzym M
Coenzyme M
HS-CoM
reduced CoM
reduced coenzyme M
β-mercaptoethanesulfonic acid
2
Methylprednisoloneapproved, vet_approvedPhase 2119383-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
3
Miconazoleapproved, investigational, vet_approvedPhase 2370622916-47-84189
Synonyms:
(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole
1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole
1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole
1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole
1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole
1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole
1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole
1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole
1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole
22832-87-7 (NITRATE)
22916-47-8
75319-47-0
AB00053500
AC1L1HM1
AKOS001574474
Aflorix(nitrate)
Albistat(nitrate)
Andergin(nitrate)
BPBio1_000279
BRD-A82396632-001-03-0
BRD-A82396632-008-02-7
BRN 0965511
BSPBio_000253
BSPBio_002033
CCRIS 7924
CHEBI:6923
CHEMBL91
CID4189
CPD-4501
Conofite(nitrate)
D00416
DB01110
Dactarin
Daktarin IV
Daktarin iv
DivK1c_000156
EINECS 245-324-5
Epi-Monistat(nitrate)
Femizol-M
Florid(nitrate)
Gyno-Daktar(nitrate)
HMS1568M15
HMS2090B21
I14-14342
IDI1_000156
Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)
KBio1_000156
KBio2_001445
KBio2_004013
KBio2_006581
KBio3_001533
KBioGR_000581
KBioSS_001445
LS-78378
Lotrimin AF(nitrate)
MCZ
MJR 1762
MLS002222203
Micantin (nitrate)
Miconasil Nitrate
 
Miconazol
Miconazol [INN-Spanish]
Miconazole
Miconazole (JP15/USP/INN)
Miconazole 3
Miconazole 3 Combination Pack
Miconazole 7 Combination Pack
Miconazole [USAN:BAN:INN:JAN]
Miconazole nitrate salt
Miconazole-7
Miconazolo
Miconazolo [DCIT]
Miconazolum
Miconazolum [INN-Latin]
Micozole
Minostate
MolPort-002-557-553
Monazole 7
Monista (nitrate)
Monistat
Monistat (TN)
Monistat 1 Combination Pack
Monistat 3 Dual-Pak
Monistat 3 Vaginal Ovules
Monistat 5 Tampon
Monistat 7 Dual-Pak
Monistat 7 Vaginal Suppositories
Monistat Dual- PAK
Monistat IV
Monistat iv (TN)
Monistat iv (tn)
Monistat-Derm
NCI60_001353
NCI60_001380
NINDS_000156
NSC 170986
NSC169434
NSC170986
Novo-Miconazole Vaginal Ovules
Oprea1_091955
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
SMR001307249
SPBio_000976
SPBio_002174
STK834405
STOCK1S-93556
Spectrum2_001048
Spectrum3_000507
Spectrum4_000061
Spectrum5_001297
Spectrum_000965
UNII-7NNO0D7S5M
Vusion
Zimycan
imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)
miconazole
4
LenograstimapprovedPhase 21220135968-09-1
Synonyms:
G-CSF (CHO cell derived)
Glycosylated recombinant G-CSF
Glycosylated recombinant granulocyte colony stimulating factor
 
Granulocyte colony stimulating factor 3 (CHO cell derived)
Granulocyte colony-stimulating factor lenograstim
Lenograstim (genetical recombination)
Lenograstim rDNA
5
Cyclophosphamideapproved, investigationalPhase 2293550-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
6
FludarabineapprovedPhase 2115421679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
7
Cyclosporineapproved, investigational, vet_approvedPhase 292279217-60-0, 59865-13-35284373, 6435893
Synonyms:
1c5f
1cyn
30024_FLUKA
30024_SIGMA
59865-13-3
79217-60-0
AC1L1EQW
AC1NQXJE
AC1NR4C4
AC1NUQK3
AC1NUZNC
AC1O5KOG
AC1Q2UDG
Ambap59865-13-3
Ambotz59865-13-3
Antibiotic S 7481F1
BMT-ABA-SAR-MLE-VAL-MLE-ALA-ALA-MLE-MLE-MVA
BMT-ABA-SAR-MLE-VAL-MLE-ALA-DAL-MLE-MLE-MVA
BPBio1_000496
BRD-A64290322-001-01-6
BRD-A69815203-001-04-3
BRD-K13533483-001-03-0
BSPBio_000450
BSPBio_001596
BSPBio_003186
C 3662
C05086
C1832_SIGMA
C3662_SIGMA
C62H111N11O12
CB-01-09 MMX
CHEBI:106343
CHEBI:328305
CHEBI:4031
CHEMBL160
CHEMBL386389
CHEMBL532318
CID2909
CID5280754
CID5284373
CID5458585
CID5497195
CID6435893
CSA
CYCLOSPORIN A (SEE ALSO TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A))
CYCLOSPORIN A, USP
Ciclosporin
Ciclosporin (JP15)
Ciclosporina
Ciclosporine
Ciclosporinum
Cipol N
Cipol-N
Consupren
Consupren S
CsA
CsA & IFN.alpha.
CyA
Cyclokat
Cyclosporin
Cyclosporin A
Cyclosporin A & IFN.alpha.
Cyclosporin A Implant
Cyclosporin A, Tolypocladium inflatum
Cyclosporine (USP)
Cyclosporine A
Cyclosporine [USAN]
D00184
DE-076
DivK1c_000871
EU-0100242
Equoral
GNF-Pf-2808
Gengraf
Gengraf (TN)
HMS1569G12
HMS1791P18
HMS1921L20
HMS1989P18
HMS2089A09
HMS2092F06
HMS502L13
Helv Chim Acta 60: 1568 (1977)
 
I06-0379
I06-0966
IDI1_000871
KBio1_000871
KBio2_000780
KBio2_003348
KBio2_005916
KBio3_002686
KBioGR_001898
KBioSS_000780
LMPK14000003
LS-257
LS-58836
Lopac0_000242
MLS000028376
MLS001333756
MLS002153454
MLS002207033
Mitogard
Modusik-A
MolPort-000-760-988
MolPort-005-934-008
MolPort-006-705-994
NCGC00093704-01
NCGC00093704-02
NCGC00093704-03
NCGC00093704-04
NCGC00093704-05
NCGC00093704-06
NCGC00093704-07
NCGC00093704-08
NCGC00164258-01
NCGC00164258-02
NINDS_000871
NSC290193
Neoplanta
Neoral
Neoral (TN)
NeuroSTAT
Nova-22007
OL 27-400
OL-27400
OLO-400
Papilock
Prestwick2_000435
Prestwick3_000435
Prestwick_731
Pulminiq
Ramihyphin A
Restasis
Restasis (TN)
S-Neoral
S1514_Selleck
SDZ-OXL 400
SMR000058578
SPBio_001467
SPECTRUM1502202
ST-603
Sandimmun
Sandimmun Neoral
Sandimmune
Sandimmune (TN)
Sandimmune, Gengraf, Restasis, Atopica, Sangcya, Cyclosporine
Sang-2000
Sang-35
SangCyA
Sangcya
Sigmasporin
Sigmasporin Microoral
Spectrum2_001484
Spectrum3_001593
Spectrum4_001279
Spectrum5_001628
Spectrum_000300
TRANSGENIC MODEL EVALUATION (CYCLOSPORIN A)
Vekacia
Zyclorin
cyclophorine
cyclosporin A
cyclosporine
from Tolypocladium inflatum (Trichoderma polysporin)
nchembio.184-comp6
nchembio.301-comp5
nchembio.342-comp1
8
Mycophenolic acidapprovedPhase 295224280-93-1446541
Synonyms:
(e)-6-(4-Hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoic acid
Acide mycophenolique
Acido micofenolico
Acidum mycophenolicum
 
Melbex
Micofenolico acido
Mycophenoic acid
Mycophenolate
Mycophenolsäure
Myfortic
9
Mycophenolate mofetilapproved, investigationalPhase 2952128794-94-55281078
Synonyms:
115007-34-6
128794-94-5
140401-05-4
2-Morpholinoethyl (4E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-Morpholinoethyl (e)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-5-phthalanyl)-4-methyl-4-hexenoate
2-morpholin-4-ylethyl (4E)-6-[4-hydroxy-7-methyl-6-(methyloxy)-3-oxo-1,3-dihydro-2-benzofuran-5-yl]-4-methylhex-4-enoate
2-morpholin-4-ylethyl (E)-6-(4-hydroxy-6-methoxy-7-methyl-3-oxo-1H-2-benzofuran-5-yl)-4-methylhex-4-enoate
4-Hexenoic acid, 6-(1,3-dihydro-4-hydroxy-6-methoxy-7-methyl -3-oxo-5-isobenzofuranyl)-4-methyl-, 2-(4-morpholinyl)ethyl ester, (4E)
AC-1562
AC1NQXZW
AC1Q6O6X
AR-1J6939
BB_NC-2566
C07908
C23H31NO7
CHEMBL1456
CID5281078
CellCept
CellCept, RS 61443, TM-MMF, Mycophenolate mofetil
Cellcept
Cellcept (TN)
D00752
DB00688
HMS2090A03
 
HSDB 7436
I01-0898
I06-1947
LS-172272
LS-75572
ME-MPA
MMF
MMF CellCept(TM)
MolPort-000-883-800
Munoloc
Mycophenolate mofetil (JAN/USAN)
Mycophenolic acid morpholinoethyl ester
Mycophenylate mofetil
NCGC00159459-02
NCGC00159459-03
NSC724229
R-99
RS 61443
RS-61443
RS-61443-190
S1501_Selleck
TL8000648
TM-MMF
UNII-9242ECW6R0
ZINC21297660
mycophenolate mofetil
10
VidarabineapprovedPhase 252124356-66-932326, 21704
Synonyms:
(+)-Cyclaradine
.beta.-Adenosine
.beta.-D-Adenosine
1odi
2-(6-AMINO-purin-9-yl)-5-hydroxymethyl-tetrahydro-furan-3,4-diol
2946-52-3
2fqy
2gl0
30143-02-3
3080-29-3
3228-71-5
4005-33-8
46946-45-6
46969-16-8
524-69-6
5536-17-4
58-61-7
9-Arabinosyladenine
9-beta-D-Arabinofuranosyl-9H-purin-6-amine
9-beta-D-Arabinofuranosyl-adenine
9-beta-D-Arabinofuranosyladenine
9-beta-D-arabinofuranosyl-adenine
9-β-D-arabinofuranosyl-9H-purin-6-amine
9-β-D-arabinofuranosyladenine
A 9251
A0152
A4036_SIGMA
A4676_SIGMA
A5762_SIGMA
A9251_SIGMA
AC1L18OL
AC1L1U8O
AC1L2IWM
AC1L2SCM
AC1O4WIN
AC1O8PY7
AC1Q1ID3
AC1Q4Y1Z
AC1Q52XU
ADENOSINE, U.S.P.
ADN
AI3-52413
AI3-52821
AR-1H6029
ARA-A NSC 247519
Ade-Rib
Adenine Arabinoside
Adenine arabinoside
Adenine nucleoside
Adenine riboside
Adenine xyloside
Adenocard
Adenocard (TN)
Adenocard, Adenosine
Adenocor
Adenoscan
Adenoscan (TN)
Adenosin
Adenosin [German]
Adenosine (JAN/USP)
Adenosine [USAN:BAN]
Adenosine arabinose
Adenosine-8-14C
Adensoine
Ambap5536-17-4
Ara A
Ara-A
Ara-ATP
Araadenosine
Arabinoside Adenine
Arabinoside adenine
Arabinosyl Adenine
Arabinosyl adenine
Arabinosyl-adenine
Arabinosyladenine
Arasena-A
Armes
Armes (TN)
BB_NC-0565
BPBio1_000898
BRN 0624881
BSPBio_000816
BSPBio_001796
BSPBio_002000
Bio1_000437
Bio1_000926
Bio1_001415
Boniton
C00212
CAS-5536-17-4
CCRIS 2557
CCRIS 3383
CHEBI:136932
CHEBI:16335
CHEBI:45327
CHEMBL1090
CHEMBL20247
CHEMBL477
CI 673
CI-673
CID102198
CID191
CID21704
CID60961
CID6420052
CID6713976
CPD000471872
Caswell No. 010B
D000241
D00045
D06298
DB00640
DivK1c_000191
EINECS 200-389-9
EINECS 217-911-6
EINECS 226-893-9
EU-0100123
FT-0082881
HMS1570I18
HMS1920A13
HMS1921K05
HMS2090F06
HMS2091G13
HMS2092C16
HMS500J13
HSDB 6514
 
I01-1121
IDI1_000191
KBio1_000191
KBio2_002418
KBio2_004986
KBio2_007554
KBio3_001296
KBio3_001500
KBioGR_001224
KBioSS_002424
L000094
LS-15059
LS-15085
Lopac0_000123
MEDR-640
MLS000069638
MLS000699527
MLS001066352
MLS001333133
MLS001333134
MLS002153227
MLS002153992
MolPort-001-785-903
MolPort-001-838-229
MolPort-003-666-308
Myocol
NCGC00016656-01
NCGC00023673-03
NCGC00023673-04
NCGC00023673-05
NCGC00023673-06
NCGC00023673-07
NCGC00094579-01
NCGC00094579-02
NCGC00094579-03
NCGC00094579-04
NCGC00178869-01
NCGC00179417-01
NCI60_003823
NCI60_037192
NCIOpen2_003303
NCIOpen2_005376
NINDS_000191
NSC 247519
NSC 404241
NSC 627048
NSC 7359
NSC 7652
NSC-404241
NSC247519
NSC404241
NSC627048
NSC70422
NSC7359
NSC7652
NSC80832
NSC87676
NSC91041
Nucleocardyl
PDSP1_001036
PDSP2_001020
Pallacor
Polyadenosine
Polyriboadenosine
Prestwick0_000768
Prestwick1_000768
Prestwick2_000768
Prestwick3_000768
Prestwick_983
RAB
S1647_Selleck
S1784_Selleck
SAM002564191
SMP1_000312
SMR000058216
SMR000225041
SMR000471872
SMR001233326
SPBio_001194
SPBio_001491
SPBio_002755
SPECTRUM1500107
SPECTRUM1500609
SR 96225
SR-96225
STK361815
SUN-Y4001
Sandesin
Spectrum2_001257
Spectrum2_001336
Spectrum3_000288
Spectrum3_000580
Spectrum4_000782
Spectrum5_001429
Spectrum_001894
Spongoadenosine
TL8003749
UNII-3XQD2MEW34
UNII-K72T3FS567
USAF CB-10
V0098
VIRDARABINE
Vidarabin
Vidarabina
Vidarabina [DCIT]
Vidarabine
Vidarabine (JAN)
Vidarabine anhydrous
Vidarabinum
Vira ATM
Vira-A
Vira-A, Vidarabine
XA
Xylosyl A
Xylosyladenine
ZINC00970363
ZINC02169830
adenine-D-ribose
adenosine
alpha-Ara A
beta-Adenosine
beta-Ara A
beta-D-Adenosine
bmse000061
nchembio.143-comp9
nchembio.186-comp109
nchembio.64-comp4
nchembio706-5
11
AldesleukinapprovedPhase 240585898-30-2, 110942-02-4
Synonyms:
125-L-serine-2-133-interleukin 2 (human reduced)
 
Interleukin-2 aldesleukin
Interleukin-2(2-133),125-ser
Recombinant interleukin-2 human
12
Prednisoloneapproved, vet_approvedPhase 2119350-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
13Interleukin-2Phase 2571
14Immunosuppressive AgentsPhase 213086
15Tin FluoridesPhase 2264
16Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 213168
17HormonesPhase 214415
18Protective AgentsPhase 27443
19Prednisolone phosphatePhase 21193
20Hormone AntagonistsPhase 213180
21Neuroprotective AgentsPhase 21716
22Prednisolone acetatePhase 21193
23Methylprednisolone HemisuccinatePhase 21193
24Prednisolone hemisuccinatePhase 21193
25Methylprednisolone acetatePhase 21193
26Peripheral Nervous System AgentsPhase 223689
27Gastrointestinal AgentsPhase 28402
28Antifungal AgentsPhase 23696
29Anti-HIV AgentsPhase 23162
30Anti-Infective AgentsPhase 222062
31glucocorticoidsPhase 25103
32AntiemeticsPhase 24022
33Antibiotics, AntitubercularPhase 27180
34Alkylating AgentsPhase 24827
35AnalgesicsPhase 211733
36Analgesics, Non-NarcoticPhase 26501
37Anti-Bacterial AgentsPhase 211226
38AntimetabolitesPhase 212054
39Anti-Inflammatory AgentsPhase 210729
40Antimetabolites, AntineoplasticPhase 27361
41Calcineurin InhibitorsPhase 21622
42Dermatologic AgentsPhase 25806
43Adjuvants, ImmunologicPhase 22554
44Antiviral AgentsPhase 29967
45Autonomic AgentsPhase 210150
46Antirheumatic AgentsPhase 210956
47Antineoplastic Agents, HormonalPhase 25592
48Antineoplastic Agents, AlkylatingPhase 24603
49Anti-Retroviral AgentsPhase 23296
50Fibrinolytic Agents2388

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic SyndromeTerminatedNCT00004465Phase 3
2Donor Umbilical Cord Blood Natural Killer Cells, Aldesleukin and Umbilical Cord Blood Transplant in Patients With Refractory Hematologic Cancers.TerminatedNCT00354172Phase 2
3Genetic Analysis of Gray Platelet SyndromeCompletedNCT00069680
4Study of Megakaryocytes From Patients With Abnormal Platelet VesiclesCompletedNCT00086476
5Brainstem and PrematurityRecruitingNCT02669056
6Registry of Patient With Antithrombotic Agents Admitted to an Emergency DepartmentRecruitingNCT02706080

Search NIH Clinical Center for Gray Platelet Syndrome


Cochrane evidence based reviews: 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 Syndrome27 24 NBEAL2

Anatomical Context for Gray Platelet Syndrome

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MalaCards organs/tissues related to Gray Platelet Syndrome:

36
Neutrophil, Endothelial, Bone, Bone marrow

Publications for Gray Platelet Syndrome

About this section

Articles related to Gray Platelet Syndrome:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
A novel nonsense NBEAL2 gene mutation causing severe bleeding in a patient with gray platelet syndrome. (28504079)
2017
2
Gray platelet syndrome: Novel mutations of the NBEAL2 gene. (27870194)
2017
3
Should any Genetic Defect Affecting I+-Granules in Platelets be Classified as Gray Platelet Syndrome? (26971401)
2016
4
Onyx embolization of an intraosseous pseudoaneurysm of the middle meningeal artery in a patient with meningiomatosis, McCune-Albright syndrome, and gray platelet syndrome. (26588455)
2016
5
Corrigendum: Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. (27126656)
2016
6
Abnormal proplatelet formation and emperipolesis in cultured human megakaryocytes from gray platelet syndrome patients. (26987485)
2016
7
Spontaneous 8bp Deletion in Nbeal2 Recapitulates the Gray Platelet Syndrome in Mice. (26950939)
2016
8
Pseudo gray platelet syndrome: the first case report in Korea. (26157784)
2015
9
A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. (26287868)
2015
10
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome. (25806575)
2015
11
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. (26472737)
2015
12
Gray Platelet Syndrome: Pro-inflammatory megakaryocytes and I+-granule loss cause myelofibrosis and confer resistance to cancer metastasis in mice. (25258341)
2014
13
GFI1B Mutation Causes Autosomal Dominant Gray Platelet Syndrome. (24635673)
2014
14
A dominant-negative GFI1B mutation in the gray platelet syndrome. (24325358)
2014
15
A case of gray platelet syndrome masked by immune thrombocytopenia at presentation. (24577417)
2014
16
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. (23863626)
2013
17
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome. (25003009)
2013
18
Gray platelet syndrome. (23427340)
2013
19
Successful hematopoietic engraftment with gray platelets after allogeneic hematopoietic stem cell transplantation from gray platelet syndrome donor. (23358204)
2013
20
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. (23193541)
2012
21
Successful pregnancy and delivery in a woman with gray platelet syndrome. (21443042)
2011
22
Gray platelet syndrome. (21800352)
2011
23
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
24
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (21765411)
2011
25
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (21263149)
2011
26
Thrombocytopenias due to gray platelet syndrome or THC2 mutations. (22102272)
2011
27
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (21765412)
2011
28
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (21765413)
2011
29
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (20524979)
2010
30
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (20709904)
2010
31
Phenotypic heterogeneity in the Gray platelet syndrome extends to the expression of TREM family member, TLT-1. (18612537)
2008
32
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. (17209061)
2007
33
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
34
The gray platelet syndrome: clinical spectrum of the disease. (16442192)
2007
35
Neutrophil secretory defect in the gray platelet syndrome: a new case. (16308182)
2006
36
Gray Platelet Syndrome in a Somalian family. (17127480)
2006
37
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. (16102114)
2005
38
Neutrophils in the gray platelet syndrome. (15370105)
2004
39
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. (15010364)
2004
40
Gray platelet syndrome presenting as menorrhagia. (12627861)
2003
41
Pseudo gray platelet syndrome in a patient with acute myocardial infarction. (12463604)
2002
42
Newly recognized cellular abnormalities in the gray platelet syndrome. (11520786)
2001
43
A new genetic isolate of gray platelet syndrome (GPS): clinical, cellular, and hematologic characteristics. (11708859)
2001
44
The magic of immersion oil: gray platelet syndrome. (9658735)
1998
45
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
46
Gray platelet syndrome with splenomegaly and signs of extramedullary hematopoiesis: a case report with review of the literature. (8192152)
1994
47
Gray platelet syndrome. Dissociation between abnormal sorting in megakaryocyte alpha-granules and normal sorting in Weibel-Palade bodies of endothelial cells. (7504696)
1993
48
Platelets of the Wistar Furth rat have reduced levels of alpha-granule proteins. An animal model resembling gray platelet syndrome. (2040691)
1991
49
Gray platelet syndrome. (2763381)
1989
50
Gray platelet syndrome: relationship between morphological abnormality of the dense tubular system (DTS) and intracellular Ca++ mobilization in the platelet. (2629468)
1989

Variations for Gray Platelet Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Gray Platelet Syndrome:

70
id Symbol AA change Variation ID SNP ID
1NBEAL2p.Leu388ProVAR_066976rs387907113
2NBEAL2p.Glu643ValVAR_066977rs387907114
3NBEAL2p.Trp677ArgVAR_066978
4NBEAL2p.Glu1833LysVAR_066980
5NBEAL2p.Arg1839CysVAR_066981rs750160418
6NBEAL2p.Pro2100LeuVAR_066982rs387907115
7NBEAL2p.His2263TyrVAR_066983
8NBEAL2p.Ser2269LeuVAR_066984rs749896920

Clinvar genetic disease variations for Gray Platelet Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NBEAL2NM_ 015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)SNVPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
2NBEAL2NM_ 015175.2(NBEAL2): c.881C> G (p.Ser294Ter)SNVPathogenicrs372277612GRCh37Chr 3, 47033134: 47033134
3NBEAL2NM_ 015175.2(NBEAL2): c.1163T> C (p.Leu388Pro)SNVPathogenicrs387907113GRCh37Chr 3, 47035476: 47035476
4NBEAL2NM_ 015175.2(NBEAL2): c.1928A> T (p.Glu643Val)SNVPathogenicrs387907114GRCh37Chr 3, 47037233: 47037233
5NBEAL2NM_ 015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu)SNVPathogenicrs387907115GRCh37Chr 3, 47046466: 47046466
6NBEAL2NM_ 015175.2(NBEAL2): c.1823G> A (p.Trp608Ter)SNVPathogenicrs794726682GRCh38Chr 3, 46995558: 46995558
7NBEAL2NM_ 015175.2(NBEAL2): c.5413dupG (p.Ala1805Glyfs)duplicationPathogenicrs794726683GRCh37Chr 3, 47044246: 47044246

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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Pathways related to Gray Platelet Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathwaysScoreTop Affiliating Genes
19.3CD36, CD40LG, SELP
2
Show member pathways
9.3GP5, GP9, VWF
39.3GP5, GP9, VWF
4
Show member pathways
9.3GP6, MPIG6B, PLCG2
59.1CD40LG, GATA1, GFI1B, PLCG2
69.0CD36, GP5, GP9
79.0CD40LG, CLDN5, SELP
8
Show member pathways
9.0GP5, GP6, GP9, VWF
99.0GP5, GP6, GP9, VWF
108.6GP5, GP6, GP9, PLCG2, VWF
11
Show member pathways
8.4CD36, GP5, GP6, GP9, VWF
128.1CD36, GP5, GP6, GP9, PLCG2, VWF
13
Show member pathways
6.5CD36, GATA1, GP5, GP6, GP9, MPIG6B

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 granuleGO:00310919.8SPARC, TREML1, VWF
2cell surfaceGO:00099869.3CD36, CD40LG, GP6, SPARC, TREML1
3platelet alpha granule membraneGO:00310929.3CD36, SELP, SPARC
4integral component of plasma membraneGO:00058878.9CD36, CD40LG, GP5, GP6, GP9, SELP
5plasma membraneGO:00058865.9CD36, CD40LG, CLDN5, GP5, GP6, GP9

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1leukocyte cell-cell adhesionGO:000715910.5CD40LG, SELP
2megakaryocyte differentiationGO:003021910.2GATA1, MPIG6B
3blood coagulation, intrinsic pathwayGO:000759710.0GP5, GP9, VWF
4platelet formationGO:00302209.7GATA1, MPIG6B, NBEAL2
5positive regulation of interleukin-12 productionGO:00327359.6CD36, CD40LG
6hemostasisGO:00075999.6GP5, GP6, GP9, VWF
7platelet degranulationGO:00025769.4CD36, SELP, SPARC, VWF
8cell adhesionGO:00071559.2CD36, GP5, GP9, SELP, VWF
9blood coagulationGO:00075968.2CD36, GATA1, GP5, GP6, GP9, MPIG6B
10platelet activationGO:00301688.1CD40LG, GP5, GP6, GP9, MPIG6B, PLCG2

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055189.4GP6, SPARC, VWF

Sources for Gray Platelet Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet