MCID: GRY002
MIFTS: 50

Gray Platelet Syndrome malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Gray Platelet Syndrome

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gray Platelet Syndrome:

Name: Gray Platelet Syndrome 49 11 45 22 23 47 51 67 36 24 65
Platelet Alpha-Granule Deficiency 45 22 23 51 67 65
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

Characteristics:

Orphanet epidemiological data:

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

HPO:

61
gray platelet syndrome:
Onset and clinical course: progressive
Inheritance: autosomal recessive inheritance, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 139090
Orphanet51 721
ICD10 via Orphanet28 D69.1
MESH via Orphanet37 D055652
UMLS via Orphanet66 C0272302
MedGen34 C0272302
MeSH36 D055652
UMLS65 C0272302, C2717750

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 genitopatellar syndrome, 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 GP1b-IX-V activation signalling and A-beta Pathways: Uptake and Degradation. Affiliated tissues include bone, brain and smooth muscle, and related mouse phenotypes are cardiovascular system 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.

Wikipedia:68 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 80)
idRelated DiseaseScoreTop Affiliating Genes
1bernard-soulier syndrome, type c29.9CD36, GP5, GP9, NBEAL2
2genitopatellar syndrome11.5
3glanzmann thrombasthenia11.3
4bleeding disorder, platelet-type, 1111.3
5bleeding disorder, platelet-type, 1710.4
6osteochondrodysplasia10.3CD40LG, GP6
7cervical carcinosarcoma10.2GP5, GP6
8cerebellopontine angle primitive neuroectodermal10.2CD40LG, SELP
9segawa syndrome, recessive10.2NBEAL2, SELP
10malignant gastric teratoma10.2GP5, GP6
11uterine corpus adenosarcoma10.2GP5, GP6
12hepatopulmonary syndrome10.2GP5, GP6
13lymphedema10.2
14thrombocytopenia10.2
15learning disability10.2CD40LG, SELP
16retinal dystrophy, iris coloboma, and comedogenic acne syndrome10.1SELP, SPARC
17dysostosis10.1
18spondylitis10.1
19thrombocytopenia-absent radius syndrome10.0GATA1, GFI1B, NBEAL2
20renovascular hypertension10.0CD40LG, GP9, SELP
21brucella melitensis brucellosis10.0CD36, CD40LG
22lung cancer10.0
23trimethylaminuria10.0
24hepatocellular carcinoma10.0
25hashimoto thyroiditis10.0
26breast cancer10.0
27obesity10.0
28aplastic anemia10.0
29psoriatic arthritis10.0
30epidermodysplasia verruciformis10.0
31fabry disease10.0
32arthritis10.0
33dilated cardiomyopathy10.0
34hepatitis10.0
35hepatitis b10.0
36paroxysmal nocturnal hemoglobinuria10.0
37skin disease10.0
38exanthem10.0
39lennox-gastaut syndrome10.0
40ocular albinism10.0
41hennekam syndrome10.0
42venous insufficiency10.0
43mastitis10.0
44sarcoma10.0
45graves' disease10.0
46renal osteodystrophy10.0
47tuberous sclerosis10.0
48bicipital tenosynovitis10.0
49lymphadenitis10.0
50viral hepatitis10.0

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 18)
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 reduced quantity of von willebrand factor HP:0012147
9 myelofibrosis HP:0011974
10 impaired thrombin-induced platelet aggregation HP:0011872
11 reduced von willebrand factor activity HP:0008330
12 impaired collagen-induced platelet aggregation HP:0008320
13 prolonged bleeding time HP:0003010
14 thrombocytopenia HP:0001873
15 splenomegaly HP:0001744
16 bruising susceptibility HP:0000978
17 epistaxis HP:0000421
18 menorrhagia HP:0000132

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 49)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Miconazoleapproved, investigationalPhase 2302622916-47-84189
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
2
Mycophenolic acidapprovedPhase 289824280-93-1446541
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
3
MethylprednisoloneapprovedPhase 2108283-43-26741
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
4
Cyclophosphamideapproved, investigationalPhase 2264350-18-0, 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
5
FludarabineapprovedPhase 2105921679-14-1, 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
PrednisoloneapprovedPhase 2108250-24-85755
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
7
Mycophenolate mofetilapproved, investigationalPhase 2898128794-94-55281078
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
8
AldesleukinapprovedPhase 238785898-30-2
Synonyms:
IL-2
Interleukin-2 precursor
 
Proleukin
T-cell growth factor
TCGF
9Interleukin-2Phase 2487
10Tin FluoridesPhase 2203
11lenograstimPhase 21134
12Immunosuppressive AgentsPhase 210422
13Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
14Immunologic FactorsPhase 218483
15
MesnaPhase 22433375-50-6598
Synonyms:
2-Mercaptoethanesulfonate
2-Mercaptoethanesulfonic acid
 
CoM
Coenzyme M
HS-CoM
16Protective AgentsPhase 25651
17Prednisolone hemisuccinatePhase 21082
18Neuroprotective AgentsPhase 21376
19Peripheral Nervous System AgentsPhase 218510
20HormonesPhase 211748
21Prednisolone phosphatePhase 21082
22Methylprednisolone acetatePhase 21082
23Methylprednisolone HemisuccinatePhase 21082
24Prednisolone acetatePhase 21082
25Hormone AntagonistsPhase 210002
26Anti-Infective AgentsPhase 217220
27Anti-Inflammatory AgentsPhase 28478
28AntimetabolitesPhase 29454
29Antimetabolites, AntineoplasticPhase 25770
30Antifungal AgentsPhase 23015
31AntiemeticsPhase 23213
32Alkylating AgentsPhase 23582
33Anti-Bacterial AgentsPhase 29140
34Antibiotics, AntitubercularPhase 25971
35Adjuvants, ImmunologicPhase 21783
36Antineoplastic Agents, AlkylatingPhase 23406
37Antineoplastic Agents, HormonalPhase 24256
38Fludarabine phosphatePhase 2105930751
39Gastrointestinal AgentsPhase 26401
40glucocorticoidsPhase 23896
41CyclosporinsPhase 2873
42Dermatologic AgentsPhase 24555
43Calcineurin InhibitorsPhase 21223
44Antirheumatic AgentsPhase 28496
45Anti-Retroviral AgentsPhase 22794
46Antiviral AgentsPhase 28071
47Fibrinolytic Agents1567
48
Serotonin314750-67-95202
Synonyms:
3-(2-Aminoethyl)-1H-indol-5-ol
3-(2-Aminoethyl)indol-5-ol
3-(b-Aminoethyl)-5-hydroxyindole
5-HT
5-HTA
5-Hydroxy-3-(b-aminoethyl)indole
 
5-Hydroxy-tryptamine
5-Hydroxyltryptamine
5-Hydroxytriptamine
5-Hydroxytryptamine
Antemovis
DS substance
Enteramin
Enteramine
49Anticoagulants1760

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 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 Syndrome22 NBEAL2

Anatomical Context for Gray Platelet Syndrome

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MalaCards organs/tissues related to Gray Platelet Syndrome:

33
Bone, Brain, Smooth muscle, Liver, Breast, Trachea, Endothelial

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:00053857.9CD36, CD40LG, CLDN5, GATA1, GFI1B, SELP
2MP:00053847.4C6orf25, CD36, CD40LG, GATA1, GFI1B, MASTL
3MP:00053907.3C6orf25, CD36, CD40LG, GATA1, NBEAL2, SELP
4MP:00053876.5C6orf25, CD36, CD40LG, GATA1, GFI1B, GP6
5MP:00053766.1C6orf25, CD36, CD40LG, GATA1, GFI1B, GP5
6MP:00053976.0C6orf25, CD36, CD40LG, GATA1, GFI1B, GP6

Publications for Gray Platelet Syndrome

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Articles related to Gray Platelet Syndrome:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
A meta-analysis of the association between IL28B polymorphisms and infection susceptibility of hepatitis B virus in Asian population. (25962810)
2015
2
Cholesterol 24S-Hydroxylase Overexpression Inhibits the Liver X Receptor (LXR) Pathway by Activating Small Guanosine Triphosphate-Binding Proteins (sGTPases) in Neuronal Cells. (25084760)
2015
3
MicroRNA-27a promotes proliferation, migration and invasion by targeting MAP2K4 in human osteosarcoma cells. (24556602)
2014
4
Influence of CETP gene -629C/A polymorphism on the efficacy of atorvastatin treatment and clinical outcome]. (24078569)
2013
5
Superoxide dismutase gene polymorphisms in patients with age-related cataract. (23289810)
2013
6
Effectiveness of Panax ginseng on Acute Myocardial Ischemia Reperfusion Injury Was Abolished by Flutamide via Endogenous Testosterone-Mediated Akt Pathway. (24282438)
2013
7
Ikappa B kinase alpha involvement in the development of nasopharyngeal carcinoma through a NF-I_B-independent and ERK-dependent pathway. (24075781)
2013
8
AID in aging and autoimmune diseases. (23190037)
2013
9
Langerhans cell histiocytosis: temporal bone invasion in an adult. (24170459)
2013
10
BRG1 is a prognostic marker and potential therapeutic target in human breast cancer. (23533649)
2013
11
Heritability of corneal refraction and corneal astigmatism: a population-based twin study among 66- to 79-year-old female twins. (22280520)
2013
12
Apical aneurysm and myocardial bridging in a patient with hypertrophic cardiomyopathy: association or consequence of the myocardial bridging? (23224930)
2012
13
Association of markers at chromosome 15q14 in Chinese patients with moderate to high myopia. (23170057)
2012
14
Re: Use of Inverted Fluoroscope's C-Arm During Endoscopic Treatment of Urinary Tract Obstruction in Pregnancy: A Practicable Solution to Cut Radiation. (22082925)
2011
15
Fibroblast-activation protein: a single marker that confidently differentiates morpheaform/infiltrative basal cell carcinoma from desmoplastic trichoepithelioma. (20711172)
2010
16
Increased stress reactivity is associated with cognitive deficits and decreased hippocampal brain-derived neurotrophic factor in a mouse model of affective disorders. (20035953)
2010
17
Bystin-like protein is upregulated in hepatocellular carcinoma and required for nucleologenesis in cancer cell proliferation. (19687802)
2009
18
Mycoplasma pneumoniae associated with severe autoimmune hemolytic anemia: case report and literature review. (19578637)
2009
19
Distinct ubiquitin ligases act sequentially for RNA polymerase II polyubiquitylation. (19920177)
2009
20
MAMLD1 (CXorf6): a new gene involved in hypospadias. (19339788)
2009
21
Clinical, histopathologic, molecular and therapeutic findings in a large kindred with gastrointestinal stromal tumor. (17943734)
2008
22
The incorporation of APOBEC3 proteins into murine leukemia viruses. (18572219)
2008
23
Structure-function properties of the apoE-dependent COX-2 pathway in vascular smooth muscle cells. (17531997)
2008
24
Suppression of normal and malignant kit signaling by a bispecific antibody linking kit with CD300a. (18424727)
2008
25
Lymphoepithelioma-like carcinoma in the trachea: report of a case. (17593478)
2007
26
Follow-up analysis of PSORS9 in 151 Chinese families confirmed the linkage to 4q31-32 and refined the evidence to the families of early-onset psoriasis. (17139270)
2007
27
Brain disease or moral condition? Wrong question. (17366158)
2007
28
Mucous membrane pemphigoid with fatal bronchial involvement in a seventeen-year-old girl. (16670490)
2006
29
Cytoprotection following endoplasmic reticulum stress protein induction in continuous cell lines. (15049342)
2004
30
Strategies to increase HMG-CoA reductase inhibitor use after acute myocardial infarction. (15260513)
2004
31
Mg2+-dependent gating and strong inward rectification of the cation channel TRPV6. (12601087)
2003
32
Identification of epidermal growth factor receptor as a target of Cdc25A protein phosphatase. (11912208)
2002
33
Functional expression of CCR2 by human fetal astrocytes. (12271471)
2002
34
The effect of dexamethasone on expression of mitogen-induced cyclooxygenase-2 mRNA by amnion-derived (WISH) cells. (11516798)
2001
35
Lymphoma mimicking scleritis. (11535438)
2001
36
Cryptogenic organizing pneumonia. (16088692)
2001
37
Glutamate receptor expression in schizophrenic brain. (10719155)
2000
38
Familial Paget's disease of bone: patterns of inheritance and frequency of linkage to chromosome 18q. (10831928)
2000
39
International multicentre comparison of cerivastatin with placebo and simvastatin for the treatment of patients with primary hypercholesterolaemia. International Cerivastatin Study Group. (10563066)
1999
40
Characterization of the breakpoints in unbalanced t(5;11)(p15;p15) constitutional chromosome translocations in two patients with beckwith-wiedemann syndrome using fluorescence in situ hybridisation. (9852299)
1998
41
Correlations between plasma-neuropeptides and temperament dimensions differ between suicidal patients and healthy controls. (9574859)
1998
42
Interleukin-4, interleukin-10, and soluble tumor necrosis factor receptors in cord blood. (9127126)
1997
43
Coordination dynamics of biological zinc &quot;clusters&quot; in metallothioneins and in the DNA-binding domain of the transcription factor Gal4. (9122177)
1997
44
Nitric oxide and bone. (8852940)
1996
45
Expression of c-ets-1, collagenase 1, and urokinase-type plasminogen activator genes in lung carcinomas. (7485393)
1995
46
Interaction of transcortin with human syncytiotrophoblast]. (7899442)
1994
47
Role of uremic and endothelial factors in the development of beta 2-microglobulin amyloidosis. (8320954)
1993
48
Itraconazole treatment of phaeohyphomycosis. (2170477)
1990
49
Experimental lipid A-induced nephritis in the dog. A possible role of lipid A in the pathogenesis of abacterial chronic pyelonephritis. (4613655)
1974
50
Response to dietary therapy in B 12 unresponsive methylmalonic acidemia. (4707869)
1973

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
1NBEAL2NM_015175.2(NBEAL2): c.2701C> T (p.Arg901Ter)single nucleotide variantPathogenicrs387907112GRCh37Chr 3, 47038800: 47038800
2NBEAL2NM_015175.2(NBEAL2): c.881C> G (p.Ser294Ter)single nucleotide variantPathogenicrs372277612GRCh37Chr 3, 47033134: 47033134
3NBEAL2NM_015175.2(NBEAL2): c.1163T> C (p.Leu388Pro)single nucleotide variantPathogenicrs387907113GRCh37Chr 3, 47035476: 47035476
4NBEAL2NM_015175.2(NBEAL2): c.1928A> T (p.Glu643Val)single nucleotide variantPathogenicrs387907114GRCh37Chr 3, 47037233: 47037233
5NBEAL2NM_015175.2(NBEAL2): c.6299C> T (p.Pro2100Leu)single nucleotide variantPathogenicrs387907115GRCh37Chr 3, 47046466: 47046466
6NBEAL2NM_015175.2(NBEAL2): c.1823G> A (p.Trp608Ter)single nucleotide variantPathogenicrs794726682GRCh38Chr 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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GO Terms for genes affiliated with Gray Platelet Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1platelet activationGO:00301688.9CD36, CD40LG, SELP, SPARC
2blood coagulationGO:00075968.5C6orf25, CD36, GATA1, GP9

Sources for Gray Platelet Syndrome

About this section
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