GD2
MCID: GCH016
MIFTS: 43

Gaucher Disease, Type Ii (GD2) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases, Bone diseases, Cardiovascular diseases

Aliases & Classifications for Gaucher Disease, Type Ii

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Aliases & Descriptions for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 52 12 50 35
Acute Neuronopathic Gaucher Disease 54 70 27
Gaucher Disease Type 2 48 24 54
Gaucher Disease, Acute Neuronopathic Type 11 48
Infantile Cerebral Gaucher Disease 11 54
Gaucher Disease Type Ii 24 70
Gd Ii 11 70
 
Gaucher Disease, Infantile Cerebral 48
Gaucher's Disease Type Ii 11
Gaucher Disease, Type 2 68
Type 2 Gaucher Disease 50
Gaucher Disease 2 70
Gd 2 48
Gd2 70

Characteristics:

Orphanet epidemiological data:

54
acute neuronopathic gaucher disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy; Age of death: early childhood,infantile

HPO:

64
gaucher disease, type ii:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 230900
Disease Ontology11 DOID:0110958
ICD1030 E75.2
Orphanet54 ORPHA77260
UMLS via Orphanet69 C0268250
ICD10 via Orphanet31 E75.2
MedGen37 C0268250
MeSH39 D005776

Summaries for Gaucher Disease, Type Ii

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NIH Rare Diseases:48 Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. liver and spleen enlargement are often apparent by 3 months of age. patients typically develop extensive and progressive brain damage and many die by 2 years of age. gaucher disease type 2 is caused by mutations in the gba gene. it is inherited in an autosomal recessive pattern. while enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition. last updated: 2/22/2010

MalaCards based summary: Gaucher Disease, Type Ii, also known as acute neuronopathic gaucher disease, is related to gaucher disease, type iii and gaucher's disease, and has symptoms including muscle rigidity, muscle rigidity and muscle spasticity. An important gene associated with Gaucher Disease, Type Ii is GBA (Glucosylceramidase Beta), and among its related pathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include liver, lung and brain.

Disease Ontology:11 A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has material basis in an autosomal recessive mutation of GBA on chromosome 1q22.

OMIM:52 Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years... (230900) more...

UniProtKB/Swiss-Prot:70 Gaucher disease 2: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.

Related Diseases for Gaucher Disease, Type Ii

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Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I gaucher disease, type ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

Diseases related to Gaucher Disease, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, type iii32.2GBA, PSAP
2gaucher's disease11.5
3gaucher disease, type iiic9.9GBA, PSAP
4osteochondrosis9.9GBA, PSAP
5dysostosis9.8GBA, PSAP
6hypothalamic disease9.8GBA, PSAP
7mononeuritis of lower limb9.7GBA, PSAP
8osteomyelitis9.7
9cholestasis9.7
10ichthyosis9.7
11hydrops fetalis9.7
12neuroblastoma9.6

Graphical network of diseases related to Gaucher Disease, Type Ii:



Diseases related to gaucher disease, type ii

Symptoms & Phenotypes for Gaucher Disease, Type Ii

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Symptoms by clinical synopsis from OMIM:

230900

Clinical features from OMIM:

230900

Human phenotypes related to Gaucher Disease, Type Ii:

 54 64 (show all 32)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus64 54 Very frequent (99-80%) HP:0000486
2 ophthalmoplegia64 54 Very frequent (99-80%) HP:0000602
3 spasticity64 54 Very frequent (99-80%) HP:0001257
4 encephalopathy64 54 Very frequent (99-80%) HP:0001298
5 dystonia64 54 Very frequent (99-80%) HP:0001332
6 flexion contracture64 54 Frequent (79-30%) HP:0001371
7 cardiac arrest64 54 Occasional (29-5%) HP:0001695
8 splenomegaly64 54 Very frequent (99-80%) HP:0001744
9 dysphagia64 54 Very frequent (99-80%) HP:0002015
10 respiratory distress64 54 Frequent (79-30%) HP:0002098
11 generalized myoclonic seizures64 54 Frequent (79-30%) HP:0002123
12 recurrent respiratory infections64 54 Frequent (79-30%) HP:0002205
13 hepatomegaly64 54 Very frequent (99-80%) HP:0002240
14 abnormal pattern of respiration64 54 Very frequent (99-80%) HP:0002793
15 cough64 54 Frequent (79-30%) HP:0012735
16 trismus64 HP:0000211
17 esotropia64 HP:0000565
18 oculomotor apraxia64 HP:0000657
19 seizures64 HP:0001250
20 global developmental delay64 HP:0001263
21 hyperreflexia64 HP:0001347
22 failure to thrive64 HP:0001508
23 protuberant abdomen64 HP:0001538
24 thrombocytopenia64 HP:0001873
25 anemia64 HP:0001903
26 cerebral atrophy64 HP:0002059
27 rigidity64 HP:0002063
28 recurrent aspiration pneumonia64 HP:0002100
29 apnea64 HP:0002104
30 progressive neurologic deterioration64 HP:0002344
31 bulbar signs64 HP:0002483
32 feeding difficulties64 HP:0011968

UMLS symptoms related to Gaucher Disease, Type Ii:


muscle rigidity, muscle spasticity, seizures

Drugs & Therapeutics for Gaucher Disease, Type Ii

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Drugs for Gaucher Disease, Type Ii (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Alfacalcidolapproved, nutraceuticalPhase 46141294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
2VitaminsPhase 4, Phase 25282
3vitamin dPhase 4, Phase 21724
4Bone Density Conservation AgentsPhase 43376
5MicronutrientsPhase 46001
6HydroxycholecalciferolsPhase 4129
7Trace ElementsPhase 46001
8
Busulfanapproved, investigationalPhase 2, Phase 354555-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
9
Cyclophosphamideapproved, investigationalPhase 2, Phase 3293550-18-0, 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
10
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3119383-43-26741
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
11
Prednisoloneapproved, vet_approvedPhase 2, Phase 3119350-24-85755
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
12
EliglustatapprovedPhase 3, Phase 211491833-29-523652731
Synonyms:
 
N-[(1R,2R)-1-(2,3-Dihydro-1,4-benzodioxin-6-yl)-1-hydroxy-3-(1-pyrrolidinyl)-2-propanyl]octanamide
13Methylprednisolone acetatePhase 2, Phase 31193
14Methylprednisolone HemisuccinatePhase 2, Phase 31193
15Prednisolone phosphatePhase 2, Phase 31193
16Prednisolone hemisuccinatePhase 2, Phase 31193
17Prednisolone acetatePhase 2, Phase 31193
18Immunosuppressive AgentsPhase 2, Phase 313086
19Alkylating AgentsPhase 2, Phase 34827
20Antilymphocyte SerumPhase 2, Phase 3408
21Antirheumatic AgentsPhase 2, Phase 310956
22Antineoplastic Agents, AlkylatingPhase 2, Phase 34603
23
Acetylcysteineapproved, investigationalPhase 2330616-91-112035
Synonyms:
(2R)-2-acetylamino-3-sulfanylpropanoic acid
(R)-2-acetylamino-3-mercaptopropanoic acid
(R)-mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
Fluprowit
 
L-Acetylcysteine
L-acetylcysteine
L-α-acetamido-β-mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetyl-L-(+)-cysteine
N-acetyl-L-cysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
24
AmbroxolapprovedPhase 1, Phase 21518683-91-5
Synonyms:
Ambroxolum
Bisolvon metabolite vIII
Bromhexine metabolite vIII
Bromhexine-metabolite vIII
 
N-(2-Amino-3,4-dibromociclohexil)-trans-4-aminociclohexanol
N-(2-Amino-3,4-dibromocyclohexyl)-trans-4-aminocyclohexanol
trans-4-((2-Amino-3,5-dibromobencil)amino)ciclohexanol
trans-4-((2-Amino-3,5-dibromobenzyl)amine)cyclohexanol
trans-4-((2-Amino-3,5-dibromobenzyl)amino)cyclohexanol
25
Calcitriolapproved, nutraceuticalPhase 221032222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1α,3β,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
Ambap32222-06-3
 
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D
26ExpectorantsPhase 2, Phase 1404
27N-monoacetylcystinePhase 2330
28Protective AgentsPhase 27443
29Respiratory System AgentsPhase 2, Phase 14997
30Antiviral AgentsPhase 29967
31AntioxidantsPhase 23050
32AntidotesPhase 21071
33Anti-Infective AgentsPhase 222062
34Anti-Inflammatory AgentsPhase 210729
35interferons2175
36
Imidacloprid187105827-78-986418
Synonyms:
(e)-imidacloprid
(z)-imidacloprid
1-((6-Chloro-3-pyridyl)methyl)-N-nitro-2-imidazolidinimine
1-(2-Chloro-5-pyridylmethyl)-2-(nitroimino)imidazolidine
1-[(6-Chloro-3-pyridinyl)methyl]-4,5-dihydro-N-nitro-1H-imidazol-2-amine, 9CI
Admire
Advantage
Advantage flea adulticide
Bayer brand of imidacloprid
 
Confidor
Confidor 200 SL
Confidor SL
Gaucho
Imidacloprid (old RN)
Imidacloprid [iso]
Merit
Merit (insecticide)
Premise 75
Provado
37Interferon-gamma152
38Immunoglobulins6394
39Antibodies6394
40Autoantibodies130

Interventional clinical trials:

(show all 38)
idNameStatusNCT IDPhase
1Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
2Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 YearsRecruitingNCT02574286Phase 4
3Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseCompletedNCT01842841Phase 3
4Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseCompletedNCT01614574Phase 3
5A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)CompletedNCT00891202Phase 3
6A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)CompletedNCT00943111Phase 3
7A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)CompletedNCT01074944Phase 3
8Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02770625Phase 3
9Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
10Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
11Skeletal Response to Eliglustat in Patients With Gaucher DiseaseEnrolling by invitationNCT02536755Phase 3
12The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher DiseaseWithdrawnNCT01161914Phase 3
13Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseCompletedNCT01685216Phase 1, Phase 2
14A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher PatientsCompletedNCT00358150Phase 2
15A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02053896Phase 2
16A Long-Term Extension Study of AT2101 in Type 1 Gaucher PatientsCompletedNCT00813865Phase 2
17A Study of Oral AT2101 in Treatment-naive Patients With Gaucher DiseaseCompletedNCT00446550Phase 2
18Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyCompletedNCT00433147Phase 2
19Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)CompletedNCT00391625Phase 1, Phase 2
20Bone Response to Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001416Phase 2
21Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)RecruitingNCT02583672Phase 2
22GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3RecruitingNCT02843035Phase 2
23Clinical Trial of Ambroxol in Patients With Type I Gaucher DiseaseSuspendedNCT01463215Phase 1, Phase 2
24PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseCompletedNCT00001410Phase 1
25Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming CellsCompletedNCT00001234Phase 1
26Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher DiseaseCompletedNCT00004294Phase 1
27A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101TerminatedNCT00875160Phase 1
28Examining the Immune Response in Patients With Gaucher Disease and Hepatitis CUnknown statusNCT01274208
29Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationUnknown statusNCT00005900
30Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher DiseaseCompletedNCT00244582
31Effects of Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001289
32A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher DiseaseCompletedNCT00465062
33Study to Evaluate Blood Cell Lines From Patients With Gaucher DiseaseCompletedNCT00351156
34Auto-antibodies Prevalence and CD1 Role in Gaucher DiseaseCompletedNCT02650219
35Nervous System Degeneration in Glycosphingolipid Storage DisordersRecruitingNCT00029965
36SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher DiseaseRecruitingNCT02605603
37Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary StudyRecruitingNCT02437396
38Investigating Lysosomal Storage Diseases in Minority GroupsRecruitingNCT02120235

Search NIH Clinical Center for Gaucher Disease, Type Ii

Genetic Tests for Gaucher Disease, Type Ii

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Genetic tests related to Gaucher Disease, Type Ii:

id Genetic test Affiliating Genes
1 Acute Neuronopathic Gaucher's Disease27
2 Gaucher Disease Type 2 (acute)24

Anatomical Context for Gaucher Disease, Type Ii

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MalaCards organs/tissues related to Gaucher Disease, Type Ii:

36
Liver, Lung, Brain, Spleen, Bone marrow, Bone, Eye

Publications for Gaucher Disease, Type Ii

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Variations for Gaucher Disease, Type Ii

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UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type Ii:

70
id Symbol AA change Variation ID SNP ID
1GBAp.Leu483ProVAR_003321rs421016
2GBAp.Glu80LysVAR_009033rs1141808
3GBAp.Arg170CysVAR_009035rs398123530
4GBAp.Asp513TyrVAR_009050

Clinvar genetic disease variations for Gaucher Disease, Type Ii:

5
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_ 000157.3(GBA): c.1448T> C (p.Leu483Pro)SNV, CompoundHeterozygotePathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_ 001005741.2(GBA): c.1361C> G (p.Pro454Arg)SNVPathogenicrs121908295GRCh37Chr 1, 155205499: 155205499
3GBANM_ 000157.3(GBA): c.1504C> T (p.Arg502Cys)SNVPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
4GBANM_ 000157.3(GBA): c.754T> A (p.Phe252Ile)SNVPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
5GBANM_ 000157.3(GBA): c.27+1G> ASNVPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
6GBANM_ 001005741.2(GBA): c.1085C> T (p.Thr362Ile)SNVPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
7GBANM_ 001005741.2(GBA): c.1090G> A (p.Gly364Arg)SNVPathogenic/ Likely pathogenicrs121908305GRCh37Chr 1, 155206170: 155206170
8GBANM_ 001005741.2(GBA): c.1141T> G (p.Cys381Gly)SNVPathogenicrs121908306GRCh37Chr 1, 155206119: 155206119
9GBANM_ 000157.3(GBA): c.1342G> C (p.Asp448His)SNV, HaplotypePathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

Expression for genes affiliated with Gaucher Disease, Type Ii

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Search GEO for disease gene expression data for Gaucher Disease, Type Ii.

Pathways for genes affiliated with Gaucher Disease, Type Ii

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Pathways related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1GBA, PSAP
29.1GBA, PSAP

GO Terms for genes affiliated with Gaucher Disease, Type Ii

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Cellular components related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.8GBA, PSAP
2lysosomal membraneGO:00057659.8GBA, PSAP
3lysosomeGO:00057649.1GBA, PSAP

Biological processes related to Gaucher Disease, Type Ii according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.8GBA, PSAP
2lipid metabolic processGO:00066299.5GBA, PSAP
3sphingolipid metabolic processGO:00066659.1GBA, PSAP

Sources for Gaucher Disease, Type Ii

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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