MCID: GRY002
MIFTS: 53

Gray Platelet Syndrome malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Gray Platelet Syndrome

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 49 11 45 22 23 47 51 24 65 67
Platelet Alpha-Granule Deficiency 45 22 23 51 65 67
Gps 45 23 51 67
Bdplt4 22 23 67
Grey Platelet Syndrome 23 67
Marked Decrease or Absence of Alpha-Granules and of Platelet-Specific Alpha-Granule Proteins 45
Bleeding Disorder, Platelet-Type, 4 23
 
Platelet-Type Bleeding Disorder 4 22
Platelet Alpha Granule Deficiency 23
Bleeding Disorder Platelet-Type 4 67
Deficient Alpha Granule Syndrome 23
Alpha Storage Pool Deficiency 51
Platelet Granule Defect 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
gray platelet syndrome:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood


External Ids:

OMIM49 139090
Orphanet51 721
ICD10 via Orphanet28 D69.1
MESH via Orphanet37 D055652
UMLS via Orphanet66 C0272302
MedGen34 C0272302
MeSH36 D055652

Summaries for Gray Platelet Syndrome

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OMIM:49 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 blood protein disease, 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 Malaria and Integrin alphaIIb beta3 signaling. Affiliated tissues include bone, neutrophil and endothelial, and related mouse phenotypes are skeleton and cellular.

Genetics Home Reference:23 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:45 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:67 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.

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 318)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c30.1GP5, GP9, NBEAL2, VWF
2blood protein disease30.1GP5, GP9, SELP, VWF
3chronic fatigue syndrome29.7CD36, SELP, VWF
4tongue squamous cell carcinoma29.5GATA1, GP9, MASTL, VWF
5leukemia10.5
6myelofibrosis10.4
7thrombocytopenia10.4
8thrombasthenia10.4
9hiv-110.4
10breast cancer10.3
11type 2m von willebrand disease10.3SELP, VWF
12von willebrand disease, type 110.3GP6, VWF
13equatorial staphyloma10.2SELP, VWF
14traumatic glaucoma10.2CD40LG, VWF
15congenital heart defects, multiple types, 410.2NBEAL2, SELP
16fallopian tube cystadenofibroma10.2CD40LG, VWF
17acute leukemia10.2
18gastric cancer10.2
19adenocarcinoma10.2
20myeloma10.2
21eccrine acrospiroma10.2GP5, GP6
22inverted papilloma10.2GP5, GP6
23extrahepatic bile duct papillary adenoma10.2SELP, VWF
24colorectal cancer10.2
25hepatocellular carcinoma10.2
26familial mediterranean fever, ar10.2
27pharyngitis10.2
28ebola hemorrhagic fever10.2
29viral infectious disease10.2
30hemorrhagic fever10.2
31viral hemorrhagic fever10.2
32parameningeal embryonal rhabdomyosarcoma10.1GP5, GP6
33myocardial infarction10.1
34greenberg skeletal dysplasia10.1
35anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.1
36adult syndrome10.1
37bleeding disorder, platelet-type, 1710.1
38genitopatellar syndrome10.1
39autoimmune lymphoproliferative syndrome10.1
40child syndrome10.1
41acute myocardial infarction10.1
42hematopoietic stem cell transplantation10.1
43coagulation protein disease10.1
44blood coagulation disease10.1
45blood platelet disease10.1
46inherited blood coagulation disease10.1
47vascular hemostatic disease10.1
48factor v leiden thrombophilia10.1
49familial myelofibrosis10.1
50kid syndrome10.1

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:

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

(show all 19)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Mycophenolate mofetilapproved, investigationalPhase 2864128794-94-55281078
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
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
2
AldesleukinapprovedPhase 237285898-30-2
Synonyms:
IL-2
Interleukin-2 precursor
 
Proleukin
T-cell growth factor
TCGF
3
PrednisoloneapprovedPhase 2103350-24-85755
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
Flo-pred
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
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
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
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
4
Mycophenolic acidapprovedPhase 286424280-93-1446541
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
Mycophenolic Acid
Mycophenolsaeure
Myfortic
5
FludarabineapprovedPhase 2100821679-14-1, 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-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-Fluoro-ara AMP
2-Fluoroadenine arabinoside 5'-monophosphate
21679-14-1
2F-Ara-AMP
9-beta-Arabinofuranosyl-2-fluoroadenine-5'-phosphate
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-(dihydrogen phosphate)
9-beta-D-Arabinofuranosyl-2-fluoroadenine 5'-monophosphate
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 Phosphate
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
Oforta
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
6
Cyclophosphamideapproved, investigationalPhase 2252550-18-0, 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
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
7
Miconazoleapproved, investigationalPhase 2291222916-47-84189
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
Desenex
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
Makesense
Micantin (nitrate)
Micatin
 
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
Oravig
Prestwick0_000067
Prestwick1_000067
Prestwick2_000067
Prestwick3_000067
Prestwick_335
R 18134
R-14,889
Rash Relief Antifungal
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
8
MethylprednisoloneapprovedPhase 2103383-43-26741
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
A-methapred
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)
Depo-medrol
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
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
9Prednisolone hemisuccinatePhase 21033
10Tin FluoridesPhase 2188
11Prednisolone phosphatePhase 21033
12Prednisolone acetatePhase 21033
13Methylprednisolone acetatePhase 21033
14Fludarabine phosphatePhase 2100830751
15CyclosporinsPhase 2849
16Interleukin-2Phase 2472
17lenograstimPhase 21108
18
MesnaPhase 22333375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM
19Methylprednisolone HemisuccinatePhase 21033

Interventional clinical trials:

idNameStatusNCT IDPhase
1Phase III Randomized Study of SYNSORB Pk in Children With E. Coli-Associated Hemolytic Uremic SyndromeCompletedNCT00004465Phase 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 PrematurityNot yet recruitingNCT02669056

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 Syndrome22 24 NBEAL2

Anatomical Context for Gray Platelet Syndrome

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MalaCards organs/tissues related to Gray Platelet Syndrome:

33
Bone, Neutrophil, Endothelial, Bone marrow

Animal Models for Gray Platelet Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Gray Platelet Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.5CD36, CD40LG, GATA1, NBEAL2, PLCG2, SELP
2MP:00053847.6CD36, CD40LG, GATA1, GFI1B, MASTL, NBEAL2
3MP:00053857.1CD36, CD40LG, CLDN5, GATA1, GFI1B, PLCG2
4MP:00053877.0CD36, CD40LG, GATA1, GFI1B, NBEAL2, PLCG2
5MP:00053977.0CD36, CD40LG, GATA1, GFI1B, GP6, NBEAL2
6MP:00053766.2CD36, CD40LG, GATA1, GFI1B, GP5, GP6

Publications for Gray Platelet Syndrome

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Articles related to Gray Platelet Syndrome:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
A Dominant-Negative GFI1B Mutation in the Gray Platelet Syndrome. (26287868)
2015
2
Pseudo gray platelet syndrome: the first case report in Korea. (26157784)
2015
3
Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome. (26472737)
2015
4
Megakaryocytic emperipolesis and platelet function abnormalities in five patients with gray platelet syndrome. (25806575)
2015
5
GFI1B Mutation Causes Autosomal Dominant Gray Platelet Syndrome. (24635673)
2014
6
Gray Platelet Syndrome: Pro-inflammatory megakaryocytes and I+-granule loss cause myelofibrosis and confer resistance to cancer metastasis in mice. (25258341)
2014
7
A case of gray platelet syndrome masked by immune thrombocytopenia at presentation. (24577417)
2014
8
The Nbeal2(-/-) mouse as a model for the gray platelet syndrome. (25003009)
2013
9
Gray platelet syndrome. (23427340)
2013
10
Gray platelet syndrome and defective thrombo-inflammation in Nbeal2-deficient mice. (23863626)
2013
11
Gray platelet syndrome: macrothrombocytopenia with deficient I+-granules. (23193541)
2012
12
Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. (21765413)
2011
13
Successful pregnancy and delivery in a woman with gray platelet syndrome. (21443042)
2011
14
NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet alpha-granules. (21765412)
2011
15
Homozygosity mapping with SNP arrays confirms 3p21 as a recessive locus for gray platelet syndrome and narrows the interval significantly. (21263149)
2011
16
Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. (21765411)
2011
17
Gray platelet syndrome. (21800352)
2011
18
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
19
Gray platelet syndrome: natural history of a large patient cohort and locus assignment to chromosome 3p. (20709904)
2010
20
The I+-granule proteome: novel proteins in normal and ghost granules in gray platelet syndrome. (20524979)
2010
21
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
22
X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation. (17209061)
2007
23
Neutrophil secretory defect in the gray platelet syndrome: a new case. (16308182)
2006
24
Gray Platelet Syndrome in a Somalian family. (17127480)
2006
25
Molecular study of the hematopoietic zinc finger gene in three unrelated families with gray platelet syndrome. (16102114)
2005
26
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome. (15010364)
2004
27
Neutrophils in the gray platelet syndrome. (15370105)
2004
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. (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:

67
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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GFI1BNM_004188.5(GFI1B): c.859C> T (p.Gln287Ter)single nucleotide variantPathogenicrs587777211GRCh37Chr 9, 135866303: 135866303
2NBEAL2NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
3NBEAL2NM_015175.2(NBEAL2): c.881C> G (p.Ser294Ter)single nucleotide variantPathogenicrs372277612GRCh37Chr 3, 47033134: 47033134
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
7NBEAL2NM_015175.2(NBEAL2): c.1823G> A (p.Trp608Ter)single nucleotide variantPathogenicrs794726682GRCh38Chr 3, 46995558: 46995558
8NBEAL2NM_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 14)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3CD36, CD40LG, SELP
2
Show member pathways
9.3GP5, GP9, VWF
39.3GP5, GP9, VWF
4
Show member pathways
9.2C6orf25, GP6, PLCG2
59.2CD40LG, GATA1, GFI1B, PLCG2
6
Show member pathways
9.1CD36, SELP, SPARC, VWF
79.1CD36, GP5, GP9
89.0CD40LG, CLDN5, SELP
9
Show member pathways
8.9GP5, GP6, GP9, VWF
108.9GP5, GP6, GP9, VWF
118.5GP5, GP6, GP9, PLCG2, VWF
12
Show member pathways
8.0CD36, GP5, GP6, GP9, PLCG2, VWF
138.0CD36, GP5, GP6, GP9, PLCG2, VWF
14
Show member pathways
6.7C6orf25, CD36, GATA1, GP5, GP6, GP9

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:003109110.2SPARC, TREML1, VWF
2platelet alpha granule membraneGO:003109210.0CD36, SELP, SPARC
3external side of plasma membraneGO:00098979.4CD36, CD40LG, SELP, VWF
4plasma membraneGO:00058865.8C6orf25, CD36, CD40LG, CLDN5, GP5, GP6

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1myeloid cell differentiationGO:003009910.5GATA1, GFI1B
2megakaryocyte developmentGO:003585510.4C6orf25, NBEAL2
3leukocyte cell-cell adhesionGO:000715910.3CD40LG, SELP
4platelet formationGO:003022010.1C6orf25, GATA1, NBEAL2
5positive regulation of interleukin-12 productionGO:003273510.0CD36, CD40LG
6blood coagulation, intrinsic pathwayGO:00075979.8GP5, GP9, VWF
7platelet degranulationGO:00025769.5CD36, SELP, SPARC, VWF
8cell adhesionGO:00071558.8CD36, GP5, GP9, SELP, VWF
9platelet activationGO:00301686.8CD36, CD40LG, GP5, GP6, GP9, PLCG2
10blood coagulationGO:00075966.2C6orf25, CD36, GATA1, GP5, GP6, GP9

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

idNameGO IDScoreTop Affiliating Genes
1collagen bindingGO:00055188.9GP5, GP6, SPARC, VWF

Sources for Gray Platelet Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet