MCID: GCH017
MIFTS: 44

Gaucher Disease, Type Iii malady

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

Aliases & Classifications for Gaucher Disease, Type Iii

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 29ICD10 via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gaucher Disease, Type Iii:

Name: Gaucher Disease, Type Iii 50 12
Gaucher Disease Type 3 46 23 52
Gaucher Disease, Subacute Neuronopathic Type 46 52
Subacute Neuronopathic Gaucher Disease 68 25
Cerebral Juvenile and Adult Form of Gaucher Disease 52
Cerebral, Juvenile and Adult, Gaucher Disease 68
Gaucher Disease, Juvenile and Adult, Cerebral 46
Gaucher Disease, Chronic Neuronopathic Type 46
Gaucher Disease Chronic Neuronopathic Type 68
Chronic Neuronopathic Gaucher Disease 52
 
Gaucher Disease Type Iii 23
Gaucher Disease Type Ii 68
Gaucher Disease, Type 3 66
Type 3 Gaucher Disease 48
Norrbottnian Disease 23
Gaucher Disease 3 68
Gd Iii 68
Gd 3 46
Gd3 68

Characteristics:

Orphanet epidemiological data:

52
gaucher disease type 3:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages

HPO:

62
gaucher disease, type iii:
Inheritance: autosomal recessive inheritance
Onset and clinical course: adult onset, phenotypic variability


Classifications:



External Ids:

OMIM50 231000
Orphanet52 ORPHA77261
ICD10 via Orphanet29 E75.2
UMLS via Orphanet67 C0268251
MeSH37 D005776

Summaries for Gaucher Disease, Type Iii

About this section
OMIM:50 Gaucher disease type III is the subacute form of neuronopathic Gaucher disease. It has later onset and slower... (231000) more...

MalaCards based summary: Gaucher Disease, Type Iii, also known as gaucher disease type 3, is related to gaucher disease, type ii and melanoma, and has symptoms including strabismus, ophthalmoparesis and splenomegaly. An important gene associated with Gaucher Disease, Type Iii is GBA (Glucosylceramidase Beta), and among its related pathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include bone, bone marrow and heart.

UniProtKB/Swiss-Prot:68 Gaucher disease 3: A subacute form of neuronopathic Gaucher disease. It has later onset and slower progression compared to the acute form of neuronopathic Gaucher disease 2.

Related Diseases for Gaucher Disease, Type Iii

About this section

Graphical network of the top 20 diseases related to Gaucher Disease, Type Iii:



Diseases related to gaucher disease, type iii

Symptoms for Gaucher Disease, Type Iii

About this section

Symptoms by clinical synopsis from OMIM:

231000

Clinical features from OMIM:

231000

Symptoms:

 52 (show all 33)
  • proteinuria
  • strabismus
  • ophthalmoplegia
  • dementia
  • hematuria
  • delayed puberty
  • ataxia
  • gait disturbance
  • encephalopathy
  • growth delay
  • abnormality of the myocardium
  • abnormality of the heart valves
  • pericardial effusion
  • splenomegaly
  • hydrops fetalis
  • thrombocytopenia
  • pancytopenia
  • anemia
  • pulmonary hypertension
  • generalized myoclonic seizures
  • recurrent respiratory infections
  • hepatomegaly
  • bone pain
  • increased susceptibility to fractures
  • delayed skeletal maturation
  • osteolysis
  • aortic valve calcification
  • mitral valve calcification
  • interstitial pulmonary disease
  • hypergammaglobulinemia
  • aseptic necrosis
  • increased bone mineral density
  • fatigue

HPO human phenotypes related to Gaucher Disease, Type Iii:

(show all 48)
id Description Frequency HPO Source Accession
1 strabismus hallmark (90%) HP:0000486
2 ophthalmoparesis hallmark (90%) HP:0000597
3 splenomegaly hallmark (90%) HP:0001744
4 hepatomegaly hallmark (90%) HP:0002240
5 bone pain hallmark (90%) HP:0002653
6 recurrent fractures hallmark (90%) HP:0002757
7 osteolysis hallmark (90%) HP:0002797
8 aseptic necrosis hallmark (90%) HP:0010885
9 increased bone mineral density hallmark (90%) HP:0011001
10 seizures typical (50%) HP:0001250
11 hypertonia typical (50%) HP:0001276
12 gait disturbance typical (50%) HP:0001288
13 hydrops fetalis typical (50%) HP:0001789
14 thrombocytopenia typical (50%) HP:0001873
15 leukopenia typical (50%) HP:0001882
16 anemia typical (50%) HP:0001903
17 incoordination typical (50%) HP:0002311
18 developmental regression typical (50%) HP:0002376
19 delayed skeletal maturation typical (50%) HP:0002750
20 bone marrow hypocellularity typical (50%) HP:0005528
21 increased antibody level in blood typical (50%) HP:0010702
22 proteinuria occasional (7.5%) HP:0000093
23 hematuria occasional (7.5%) HP:0000790
24 abnormality of the myocardium occasional (7.5%) HP:0001637
25 abnormality of the aortic valve occasional (7.5%) HP:0001646
26 abnormality of the pericardium occasional (7.5%) HP:0001697
27 restrictive ventilatory defect occasional (7.5%) HP:0002091
28 pulmonary hypertension occasional (7.5%) HP:0002092
29 recurrent respiratory infections occasional (7.5%) HP:0002205
30 strabismus HP:0000486
31 depression HP:0000716
32 dementia HP:0000726
33 ataxia HP:0001251
34 motor delay HP:0001270
35 myoclonus HP:0001336
36 splenomegaly HP:0001744
37 thrombocytopenia HP:0001873
38 pancytopenia HP:0001876
39 generalized myoclonic seizures HP:0002123
40 neurological speech impairment HP:0002167
41 hepatomegaly HP:0002240
42 spastic paraparesis HP:0002313
43 progressive neurologic deterioration HP:0002344
44 decreased beta-glucocerebrosidase protein and activity HP:0003656
45 short stature HP:0004322
46 decreased body weight HP:0004325
47 vascular calcification HP:0004934
48 horizontal supranuclear gaze palsy HP:0007817

UMLS symptoms related to Gaucher Disease, Type Iii:


ataxia, hepatomegaly, seizures, paraparesis, spastic, hyperexplexia

Drugs & Therapeutics for Gaucher Disease, Type Iii

About this section

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

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
CyclophosphamidePhase 2, Phase 3275650-18-0, 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
2
MethylprednisolonePhase 2, Phase 3111883-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
3
PrednisolonePhase 2, Phase 3111850-24-85755
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
4PREDNISOLONE ACETATEPhase 2, Phase 31118
5
eliglustatPhase 311491833-29-523652731
Synonyms:
 
N-[(1R,2R)-1-(2,3-Dihydro-1,4-benzodioxin-6-yl)-1-hydroxy-3-(1-pyrrolidinyl)-2-propanyl]octanamide
6
BusulfanPhase 2, Phase 353255-98-12478
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)
7
1-DeoxynojirimycinPhase 32319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
8Alkylating AgentsPhase 2, Phase 34573
9
MiglustatPhase 3, Phase 22172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
10
BenzocainePhase 317941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
11tannic acidNutraceuticalPhase 31794
12interferons2112
13
imidacloprid154105827-78-986418
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

Interventional clinical trials:

(show all 36)
idNameStatusNCT IDPhase
1The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseRecruitingNCT02528617Phase 4
2A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)CompletedNCT00891202Phase 3
3A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)CompletedNCT00943111Phase 3
4A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)CompletedNCT01074944Phase 3
5Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseCompletedNCT01614574Phase 3
6Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseCompletedNCT01842841Phase 3
7Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02770625Phase 3
8Oral Miglustat in Adult Patients With Stable Type 1 Gaucher DiseaseCompletedNCT00319046Phase 3
9An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher DiseaseCompletedNCT00635427Phase 3
10Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
11Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 3
12A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 3
13Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
14Skeletal Response to Eliglustat in Patients With Gaucher DiseaseRecruitingNCT02536755Phase 3
15The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher DiseaseWithdrawnNCT01161914Phase 3
16Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseCompletedNCT01685216Phase 1, Phase 2
17OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher DiseaseCompletedNCT00041535Phase 2
18Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyCompletedNCT00433147Phase 2
19GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3Not yet recruitingNCT02843035Phase 2
20PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseCompletedNCT00001410Phase 1
21Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming CellsCompletedNCT00001234Phase 1
22Phase 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
23Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
24A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101TerminatedNCT00875160Phase 1
25Effects of Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001289
26Study to Evaluate Blood Cell Lines From Patients With Gaucher DiseaseCompletedNCT00351156
27Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher DiseaseCompletedNCT00244582
28Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)CompletedNCT01136304
29Auto-antibodies Prevalence and CD1 Role in Gaucher DiseaseCompletedNCT02650219
30A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher DiseaseCompletedNCT00465062
31SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher DiseaseRecruitingNCT02605603
32LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher DiseaseRecruitingNCT02416661
33Thrombocytopathy in Gaucher Disease PatientsRecruitingNCT01344096
34Examining the Immune Response in Patients With Gaucher Disease and Hepatitis CRecruitingNCT01274208
35Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationActive, not recruitingNCT00005900
36A Screening Study Evaluating Disease Status of Gaucher Type I PatientsWithdrawnNCT00795197

Search NIH Clinical Center for Gaucher Disease, Type Iii

Genetic Tests for Gaucher Disease, Type Iii

About this section

Genetic tests related to Gaucher Disease, Type Iii:

id Genetic test Affiliating Genes
1 Subacute Neuronopathic Gaucher's Disease25
2 Gaucher Disease Type 3 (subacute/chronic)23

Anatomical Context for Gaucher Disease, Type Iii

About this section

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

34
Bone, Bone marrow, Heart, Eye

Animal Models for Gaucher Disease, Type Iii or affiliated genes

About this section

Publications for Gaucher Disease, Type Iii

About this section

Articles related to Gaucher Disease, Type Iii:

idTitleAuthorsYear
1
Pulmonary involvement in siblings with Gaucher disease type III. (22352271)
2011
2
Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and Sly syndromes, and Gaucher disease type III. (10226749)
1999
3
Mutation analysis for prenatal diagnosis and heterozygote detection of Gaucher disease type III (Norrbottnian type). (1508850)
1992

Variations for Gaucher Disease, Type Iii

About this section

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

68
id Symbol AA change Variation ID SNP ID
1GBAp.Val437LeuVAR_010070
2GBAp.Thr530IleVAR_010075

Clinvar genetic disease variations for Gaucher Disease, Type Iii:

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
3GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
4GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
5GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
6GBANM_000157.3(GBA): c.1343A> T (p.Asp448Val)single nucleotide variantPathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
7GBANM_000157.3(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
8GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
9GBANM_000157.3(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
10GBANM_000157.3(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
11GBANM_001005741.2(GBA): c.1174C> G (p.Arg392Gly)single nucleotide variantPathogenicrs121908308GRCh37Chr 1, 155206086: 155206086
12GBANM_000157.3(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
13GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
14GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518

Expression for genes affiliated with Gaucher Disease, Type Iii

About this section
Search GEO for disease gene expression data for Gaucher Disease, Type Iii.

Pathways for genes affiliated with Gaucher Disease, Type Iii

About this section

Pathways related to Gaucher Disease, Type Iii 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 Iii

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.3GBA, PSAP
2lysosomal membraneGO:00057659.1GBA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1glycosphingolipid metabolic processGO:00066879.1GBA, PSAP

Sources for Gaucher Disease, Type Iii

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet