MCID: GCH015
MIFTS: 66

Gaucher Disease, Type I malady

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

Aliases & Classifications for Gaucher Disease, Type I

About this section
Sources:
2CDC, 11Disease Ontology, 12diseasecard, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 37MedlinePlus, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 48NINDS, 49Novoseek, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
See all MalaCards sources

Aliases & Descriptions for Gaucher Disease, Type I:

Name: Gaucher Disease, Type I 51 49
Gaucher Disease 11 70 23 47 24 25 48 53 69 49 37 38 13 67
Glucocerebrosidase Deficiency 23 47 24 25 53 69
Acid Beta-Glucosidase Deficiency 11 47 53 69
Glucosylceramidase Deficiency 23 47 24 25
Gaucher Disease Type 1 47 24 53
Kerasin Thesaurismosis 11 47 25
Lipoid Histiocytosis 11 25 67
Gaucher's Disease 11 25 13
Gd 25 69 2
Glucosylceramide Beta-Glucosidase Deficiency 11 25
Cerebroside Lipidosis Syndrome 47 25
Acute Cerebral Gaucher Disease 47 67
Glucosyl Cerebroside Lipidosis 47 25
Gaucher Disease Type I 69 26
Gaucher Splenomegaly 47 25
Glucocerebrosidosis 47 25
Kerasin Lipoidosis 47 25
Gauchers Disease 25 26
 
Gba Deficiency 47 69
Adult Non-Neuronopathic Gaucher Disease 69
Gaucher Disease, Noncerebral Juvenile 47
Non-Cerebral Juvenile Gaucher Disease 53
Noncerebral Juvenile Gaucher Disease 69
Glocucerebrosidase Deficiency 11
Glucosylceramide Lipidosis 25
Gaucher Disease, Type 2 67
Gaucher Disease, Type 1 67
Type 1 Gaucher Disease 49
Glucosidase, Acid Beta 12
Kerasin Histiocytosis 25
Gaucher Disease, Type 12
Sphingolipidosis 1 47
Gaucher Disease 1 69
Gaucher Syndrome 25
Gd I 69
Gd 1 47
Gd1 69

Characteristics:

Orphanet epidemiological data:

53
gaucher disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages
gaucher disease type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

63
gaucher disease, type i:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 230800
Disease Ontology11 DOID:1926
ICD1029 E75.22
MeSH38 D005776
NCIt44 C61268
MESH via Orphanet39 D005776
UMLS via Orphanet68 C0017205, C1961835
ICD10 via Orphanet30 E75.2

Summaries for Gaucher Disease, Type I

About this section
OMIM:51 Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of... (230800) more...

MalaCards based summary: Gaucher Disease, Type I, also known as gaucher disease, is related to gaucher disease, type iii and gaucher disease, type ii, and has symptoms including abnormality of the genital system, splenomegaly and thrombocytopenia. An important gene associated with Gaucher Disease, Type I is GBA (Glucosylceramidase Beta), and among its related pathways are Other glycan degradation and Amino sugar and nucleotide sugar metabolism. Affiliated tissues include bone, liver and spleen, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Disease Ontology:11 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

Genetics Home Reference:25 Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

NIH Rare Diseases:47 Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow. Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes (mutations) in the GBA gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing. Treatments may include enzyme replacement therapy or medications that affect the making of fatty molecules (substrate reduction therapy). Last updated: 12/9/2016

MedlinePlus:37 Gaucher disease is a rare, inherited disorder. it is a type of lipid metabolism disorder. if you have it, you do not have enough of an enzyme called glucocerebrosidase. this causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. this prevents these organs from working properly. there are three types: type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. it does not affect the brain. it can occur at any age. type 2, which causes severe brain damage, appears in infants. most children who have it die by age 2. in type 3, there may be liver and spleen enlargement. the brain is gradually affected. it usually starts in childhood or adolescence. gaucher disease has no cure. treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. there is no good treatment for the brain damage of types 2 and 3. nih: national institute of neurological disorders and stroke

NINDS:48 Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases.

UniProtKB/Swiss-Prot:69 Gaucher disease: A lysosomal storage disease due to deficient activity of beta- glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. Gaucher disease 1: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.

Wikipedia:70 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which... more...

GeneReviews for NBK1269

Related Diseases for Gaucher Disease, Type I

About this section

Diseases in the Pseudo-Gaucher Disease family:

gaucher disease, type i Gaucher Disease, Type Ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic

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

(show top 50)    (show all 101)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, type iii34.5GBA, PSAP
2gaucher disease, type ii34.3GBA, PSAP
3gaucher disease, perinatal lethal12.3
4gaucher disease, atypical12.2
5gaucher disease, type iiic12.2
6gaucher disease - ophthalmoplegia - cardiovascular calcification12.0
7pseudo-gaucher disease11.8
8gaucher disease, cardiovascular form11.8
9sphingolipidosis10.9
10sea-blue histiocyte disease10.8
11hydrops fetalis, nonimmune10.8
12ocular motor apraxia10.8
13lipid metabolism disorder10.8
14cholestasis, familial intrahepatic, of pregnancy 110.6CHIT1, GBA
15metachromatic leukodystrophy, late infantile form10.5ARSA, PSAP
16tay-sachs disease, b variant, infantile form10.5ARSA, PSAP
17tay-sachs disease, b1 variant10.5ARSA, PSAP
18neuronal intestinal dysplasia10.4ARSA, PSAP
19hyperglobulinemic purpura10.4GBA, HEXA, PSAP
20cataract-deafness-hypogonadism syndrome10.4GALC, PSAP
21spinal muscular atrophy with progressive myoclonic epilepsy10.3PSAP, SMPD1
22niemann-pick disease, type b10.3CHIT1, SMPD1
23phototoxic dermatitis10.2GBA, SMPD1
24bile duct cystadenoma10.2GBA, HEXA
25tyrosinemia, type i10.2ARSA, HEXA, PSAP
26posterior foramen magnum meningioma10.2GBA, GLA, HEXA
27parovarian cyst10.1HEXA, SMPD1
28osteochondritis dissecans10.1CHIT1, GBA, PSAP, SMPD1
29splenomegaly10.0
30graves disease 19.9ARSA, CHIT1, GALC, PSAP
31mental retardation, autosomal recessive 439.9PSAP, SMPD1
32mitochondrial dna depletion syndrome 19.9ARSA, GALC, HEXA, PSAP
33pick disease9.8
34fabry disease9.8
35niemann-pick disease9.8
36thrombocytopenia9.8
37cholelithiasis9.8
38neuronitis9.8
39hematopoietic stem cell transplantation9.8
40protein-losing enteropathy9.8
41epilepsy9.8
42retinitis9.8
43hypersplenism9.8
44pulmonary arteriovenous fistulas9.7
45arteriovenous fistula9.7
46growth hormone deficiency9.7
47aspartylglucosaminuria9.7
48osteoporosis9.7
49niemann-pick disease, type a9.7
50multiple myeloma9.7

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



Diseases related to gaucher disease, type i

Symptoms for Gaucher Disease, Type I

About this section

Symptoms by clinical synopsis from OMIM:

230800

Clinical features from OMIM:

230800

Human phenotypes related to Gaucher Disease, Type I:

 63 53 (show all 104)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the genital system63 hallmark (90%) HP:0000078
2 splenomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0001744
3 thrombocytopenia63 53 hallmark (90%) Frequent (79-30%) HP:0001873
4 hepatomegaly63 53 hallmark (90%) Very frequent (99-80%) HP:0002240
5 bone pain63 53 hallmark (90%) Frequent (79-30%) HP:0002653
6 delayed skeletal maturation63 53 hallmark (90%) Frequent (79-30%) HP:0002750
7 recurrent fractures63 53 hallmark (90%) Frequent (79-30%) HP:0002757
8 osteolysis63 53 hallmark (90%) Occasional (29-5%) HP:0002797
9 reduced bone mineral density63 hallmark (90%) HP:0004349
10 aseptic necrosis63 53 hallmark (90%) Frequent (79-30%) HP:0010885
11 increased bone mineral density63 53 hallmark (90%) Occasional (29-5%) HP:0011001
12 anemia63 53 hallmark (90%) Very frequent (99-80%) HP:0001903
13 gingival bleeding63 53 typical (50%) Occasional (29-5%) HP:0000225
14 bruising susceptibility63 53 typical (50%) Frequent (79-30%) HP:0000978
15 abdominal pain63 53 typical (50%) Frequent (79-30%) HP:0002027
16 kyphosis63 53 typical (50%) Frequent (79-30%) HP:0002808
17 bone marrow hypocellularity63 typical (50%) HP:0005528
18 strabismus63 53 typical (50%) Frequent (79-30%) HP:0000486
19 oculomotor apraxia63 53 typical (50%) Occasional (29-5%) HP:0000657
20 behavioral abnormality63 typical (50%) HP:0000708
21 seizures63 typical (50%) HP:0001250
22 incoordination63 typical (50%) HP:0002311
23 developmental regression63 53 typical (50%) Frequent (79-30%) HP:0002376
24 arthralgia63 53 typical (50%) Frequent (79-30%) HP:0002829
25 involuntary movements63 typical (50%) HP:0004305
26 abnormality of temperature regulation63 typical (50%) HP:0004370
27 feeding difficulties in infancy63 53 typical (50%) Frequent (79-30%) HP:0008872
28 proteinuria63 53 occasional (7.5%) Occasional (29-5%) HP:0000093
29 hematuria63 53 occasional (7.5%) Occasional (29-5%) HP:0000790
30 biliary tract abnormality63 occasional (7.5%) HP:0001080
31 cirrhosis63 53 occasional (7.5%) Occasional (29-5%) HP:0001394
32 ascites63 53 occasional (7.5%) Occasional (29-5%) HP:0001541
33 abnormality of the myocardium63 53 occasional (7.5%) Occasional (29-5%) HP:0001637
34 sudden cardiac death63 occasional (7.5%) HP:0001645
35 abnormality of the pericardium63 53 occasional (7.5%) Occasional (29-5%) HP:0001697
36 leukopenia63 53 occasional (7.5%) Occasional (29-5%) HP:0001882
37 restrictive ventilatory defect63 occasional (7.5%) HP:0002091
38 pulmonary hypertension63 53 occasional (7.5%) Occasional (29-5%) HP:0002092
39 osteoarthritis63 53 occasional (7.5%) Occasional (29-5%) HP:0002758
40 increased antibody level in blood63 occasional (7.5%) HP:0010702
41 edema of the lower limbs63 53 occasional (7.5%) Occasional (29-5%) HP:0010741
42 hydrocephalus63 53 occasional (7.5%) Occasional (29-5%) HP:0000238
43 hearing impairment63 53 occasional (7.5%) Occasional (29-5%) HP:0000365
44 retinopathy63 53 occasional (7.5%) Occasional (29-5%) HP:0000488
45 abnormality of skin pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0001000
46 abnormality of the macula63 53 occasional (7.5%) Occasional (29-5%) HP:0001103
47 muscular hypotonia63 53 occasional (7.5%) Occasional (29-5%) HP:0001252
48 tremor63 53 occasional (7.5%) Occasional (29-5%) HP:0001337
49 limitation of joint mobility63 occasional (7.5%) HP:0001376
50 abnormality of the aortic valve63 occasional (7.5%) HP:0001646
51 mitral stenosis63 occasional (7.5%) HP:0001718
52 hydrops fetalis63 53 occasional (7.5%) Occasional (29-5%) HP:0001789
53 abnormality of coagulation63 occasional (7.5%) HP:0001928
54 abnormality of extrapyramidal motor function63 53 occasional (7.5%) Occasional (29-5%) HP:0002071
55 respiratory insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0002093
56 ventriculomegaly63 53 occasional (7.5%) Occasional (29-5%) HP:0002119
57 pulmonary fibrosis63 53 occasional (7.5%) Occasional (29-5%) HP:0002206
58 osteomyelitis63 53 occasional (7.5%) Occasional (29-5%) HP:0002754
59 arthrogryposis multiplex congenita63 53 occasional (7.5%) Occasional (29-5%) HP:0002804
60 short stature63 53 occasional (7.5%) Occasional (29-5%) HP:0004322
61 hemiplegia/hemiparesis63 53 occasional (7.5%) Occasional (29-5%) HP:0004374
62 cranial nerve paralysis63 53 occasional (7.5%) Occasional (29-5%) HP:0006824
63 opacification of the corneal stroma63 occasional (7.5%) HP:0007759
64 ichthyosis63 53 occasional (7.5%) Occasional (29-5%) HP:0008064
65 epistaxis63 HP:0000421
66 hyperpigmentation of the skin63 HP:0000953
67 pancytopenia63 53 Occasional (29-5%) HP:0001876
68 hypersplenism63 53 Very frequent (99-80%) HP:0001971
69 dyspnea63 HP:0002094
70 pulmonary infiltrates63 HP:0002113
71 pathologic fracture63 53 Occasional (29-5%) HP:0002756
72 vertebral compression fractures63 53 Occasional (29-5%) HP:0002953
73 erlenmeyer flask deformity of the femurs63 HP:0004975
74 interstitial pulmonary disease63 53 Occasional (29-5%) HP:0006530
75 multiple myeloma63 HP:0006775
76 macular atrophy63 HP:0007401
77 depression53 Frequent (79-30%)
78 delayed puberty53 Frequent (79-30%)
79 abnormality of the skeletal system53 Frequent (79-30%)
80 osteopenia53 Frequent (79-30%)
81 ataxia53 Frequent (79-30%)
82 joint dislocation53 Frequent (79-30%)
83 joint stiffness53 Occasional (29-5%)
84 death in infancy53 Occasional (29-5%)
85 abnormality of the heart valves53 Occasional (29-5%)
86 abnormal bleeding53 Occasional (29-5%)
87 fever53 Frequent (79-30%)
88 dysphagia53 Frequent (79-30%)
89 generalized tonic-clonic seizures53 Frequent (79-30%)
90 generalized myoclonic seizures53 Frequent (79-30%)
91 abnormal bone structure53 Frequent (79-30%)
92 aortic valve calcification53 Occasional (29-5%)
93 mitral valve calcification53 Occasional (29-5%)
94 corneal opacity53 Occasional (29-5%)
95 hypergammaglobulinemia53 Occasional (29-5%)
96 cherry red spot of the macula53 Occasional (29-5%)
97 elevated c-reactive protein level53 Occasional (29-5%)
98 hepatitis53 Occasional (29-5%)
99 fatigue53 Very frequent (99-80%)
100 abnormality of movement53 Frequent (79-30%)
101 growth delay53 Very frequent (99-80%)
102 pericardial effusion53 Occasional (29-5%)
103 anorexia53 Very frequent (99-80%)
104 biliary tract obstruction53 Occasional (29-5%)

UMLS symptoms related to Gaucher Disease, Type I:


hyperexplexia, hepatomegaly, muscle rigidity, muscle spasticity, seizures, dyspnea, bone pain

Drugs & Therapeutics for Gaucher Disease, Type I

About this section

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

(show top 50)    (show all 109)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LiraglutideapprovedPhase 4315204656-20-2
Synonyms:
204656-20-2
Arg34Lys26-(N-ε-(γ-Glu(N-α-hexadecanoyl)))-GLP-1[7-37]
C439759
Liraglutida
Liraglutida [INN-Spanish]
Liraglutide
Liraglutide [USAN:INN]
Liraglutide recombinant
Liraglutidum
Liraglutidum [INN-Latin]
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)GLP-1-(7-37)-peptide
 
N26-(Hexadecanoyl-gamma-glutamyle)-(34-arginine)glucagon-like-peptide-1-(7-37)-peptide
NN 2211
NN-2211
NN2211
NNC 90-1170
N²⁶-(N-Hexadecanoyl-L-gamma-glutamyl)-[34-L-arginine]glucagon-like peptide 1-(7-37)-peptide
N²⁶-(hexadecanoyl-gamma-glutamyle)-[34-arginine]GLP-1-(7-37)-peptide
UNII-839I73S42A
Victoza
nn 2211
nn2211
victoza
2
Alfacalcidolapproved, nutraceuticalPhase 45241294-56-85282181
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
3AntibodiesPhase 46045
4ImmunoglobulinsPhase 46045
5Hypoglycemic AgentsPhase 4, Phase 3, Phase 25733
6VitaminsPhase 4, Phase 25095
7vitamin dPhase 4, Phase 21653
8Bone Density Conservation AgentsPhase 4, Phase 23266
9MicronutrientsPhase 4, Phase 25802
10Trace ElementsPhase 4, Phase 25802
11HydroxycholecalciferolsPhase 4102
12Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 412767
13IncretinsPhase 41537
14Glucagon-Like Peptide 1Phase 4694
15glucagonPhase 4462
16Hormone AntagonistsPhase 412778
17HormonesPhase 413979
18
MiglustatapprovedPhase 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
19
EliglustatapprovedPhase 3, Phase 2, Phase 111491833-29-523652731
Synonyms:
 
N-[(1R,2R)-1-(2,3-Dihydro-1,4-benzodioxin-6-yl)-1-hydroxy-3-(1-pyrrolidinyl)-2-propanyl]octanamide
20
Methylprednisoloneapproved, vet_approvedPhase 2, Phase 3115383-43-26741
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
21
Cyclophosphamideapproved, investigationalPhase 2, Phase 3282950-18-0, 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
22
BenzocaineapprovedPhase 318921994-09-7, 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
23
Prednisoloneapproved, vet_approvedPhase 2, Phase 3115350-24-85755
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
24
Busulfanapproved, investigationalPhase 2, Phase 354055-98-12478
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)
25tannic acidapproved, NutraceuticalPhase 31892
26
1-DeoxynojirimycinexperimentalPhase 3, Phase 22619130-96-21374
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
27Immunosuppressive AgentsPhase 2, Phase 312770
28Prednisolone acetatePhase 2, Phase 31153
29Methylprednisolone acetatePhase 2, Phase 31153
30Prednisolone phosphatePhase 2, Phase 31153
31Methylprednisolone HemisuccinatePhase 2, Phase 31153
32Prednisolone hemisuccinatePhase 2, Phase 31153
33Antilymphocyte SerumPhase 2, Phase 3399
34Antiviral AgentsPhase 3, Phase 2, Phase 19732
35Anti-Retroviral AgentsPhase 3, Phase 23232
36Antirheumatic AgentsPhase 2, Phase 310627
37Anti-HIV AgentsPhase 3, Phase 23100
38Cardiac GlycosidesPhase 3, Phase 2148
39Anti-Infective AgentsPhase 3, Phase 2, Phase 121402
40Antineoplastic Agents, AlkylatingPhase 2, Phase 34474
41Glycoside Hydrolase InhibitorsPhase 3, Phase 2128
42Alkylating AgentsPhase 2, Phase 34694
43
Calcium carbonateapprovedPhase 2208471-34-1
Synonyms:
CaCO3
Calcium carbonate
Calcium carbonate (1:1)
Calciumcarbonat
Carbonate de calcium
 
Carbonato de calcio
Carbonic acid calcium salt (1:1)
E 170
Kalziumkarbonat
Kohlensaurer kalk
Precipitated calcium carbonate
44
FludarabineapprovedPhase 2, Phase 1111321679-14-1, 75607-67-930751
Synonyms:
(2R,3S,4S,5R)-2-(6-amino-2-fluoro-9H-purin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
(2R,3S,4S,5R)-2-(6-amino-2-fluoropurin-9-yl)-5-(hydroxymethyl)oxolane-3,4-diol
2-F-ARAA
2-F-ara-A
2-Fluoro Ara-A
2-Fluoro-9-beta-D-arabinofuranosyladenine
2-fluoro ARA-A
21679-14-1
9-beta-D-Arabinofuranosyl-2-fluoroadenine
9-beta-D-arabinofuranosyl-2-fluoro-9H-purin-6-amine
9H-Purin-6-amine, 9-beta-D-arabinofuranosyl-2-fluoro- (9CI)
AC1LCW8I
AC1Q51CF
C10H12FN5O4
CCRIS 3382
CHEMBL1568
CID657237
CPD000058874
D07966
EINECS 244-525-5
F-Ara-A
FAMP
FT-0082766
FaraA
Fludara
Fludara, Fludarabine
 
Fludarabina
Fludarabina [Spanish]
Fludarabine
Fludarabine (INN)
Fludarabine 5'-monophosphate
Fludarabine [INN]
Fludarabine monophosphate
Fludarabine phosphate
Fludarabinum
Fludarabinum [Latin]
Fludura
Fluradosa
Fluradosa (TN)
HSDB 6964
I14-4978
LS-15061
MLS000028687
NSC 118218
NSC 118218H
NSC-118218
S1491_Selleck
SAM002548956
SMR000058874
SQ Fludarabine
UNII-1X9VK9O1SC
UNII-P2K93U8740
ZINC04216238
45
ThiotepaapprovedPhase 2, Phase 121652-24-45453
Synonyms:
 
Thioplex
46
AcetylcysteineapprovedPhase 2, Phase 1316616-91-112035
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-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
47
MelphalanapprovedPhase 2, Phase 1712148-82-34053, 460612
Synonyms:
(2S)-2-amino-3-[4-[bis(2-chloroethyl)amino]phenyl]propanoic acid
(2s)-2-amino-3-(4-[bis(2-chloroethyl)amino]phenyl)propanoic acid
148-82-3
3-(P-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)-L-alanine
3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
3-P-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3-p-(Di(2-chloroethyl)amino)-phenyl-L-alanine
3025 C.B.
3025 c.b
3223-07-2
4-(Bis(2-chloroethyl)amino)-L-phenylalanine
4-14-00-01689 (Beilstein Handbook Reference)
4-[Bis(2-chloroethyl)amino]-L-phenylalanine
4-[Bis-(2-chloroethyl)amino]-L-phenylalanine
AC1LA2OE
ALKERAN (TN)
AY3360000
Alanine Nitrogen Mustard
Alkeran
AmbotzHAA1563
At-290
BIDD:GT0044
BRD-K87827419-001-02-8
BRN 2816456
BSPBio_002407
C13H18Cl2N2O2
CB 3025
CB-3025
CCRIS 374
CHEBI:165415
CHEBI:28876
CHEMBL852
CID460612
D00369
DivK1c_000653
EINECS 205-726-3
HMS2090B09
HMS2091B16
HMS502A15
HSDB 3234
IDI1_000653
KBio1_000653
KBio2_000877
KBio2_003445
KBio2_006013
KBio3_001627
KBioGR_001284
KBioSS_000877
L-3-(P-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(p-(Bis(2-chloroethyl)amino)phenyl)alanine
L-3-(para-(Bis(2-chloroethyl)amino)phenyl)alanine
L-PAM
L-Phenylalanine mustard
L-Sarcolysin
L-Sarcolysine
L-Sarkolysin
LS-15868
LS-865
 
Levofalan
Levofolan
Levopholan
M2011_SIGMA
MELPHALAN (SEE ALSO TRANSGENIC MODEL EVALUATION (MELPHALAN))
MLS001333666
MLS002153368
Melfalan
Melfalano
Melfalano [INN-Spanish]
Melphalan (JP15/USP/INN)
Melphalan [USAN:INN:BAN:JAN]
Melphalanum
Melphalanum [INN-Latin]
Mephalan
MolPort-003-665-535
NCGC00090757-01
NCGC00090757-02
NCGC00090757-03
NCI-C04853
NINDS_000653
NIOSH/AY3360000
NSC 241286
NSC 8806
NSC-8806
NSC241286
NSC8806
P-Di-(2-chloroethyl)amino-L-phenylalanine
P-L-Sarcolysin
P-N-Bis(2-chloroethyl)amino-L-phenylalanine
Phenylalanine mustard
Phenylalanine nitrogen mustard
Prestwick_1006
RCRA waste no. U150
Rcra waste number U150
SK-15673
SMP2_000174
SMR000058720
SPBio_000287
SPECTRUM1500382
Sarcolysine
Sarkolysin
Spectrum2_000074
Spectrum3_000684
Spectrum4_000882
Spectrum5_001601
Spectrum_000397
TL8001065
TRANSGENIC LEP (MELPHALAN) (SEE ALSO MELPHALAN)
TRANSGENIC MODEL EVALUATION (MELPHALAN)
UNII-Q41OR9510P
melphalan
p-Bis(beta-chloroethyl)aminophenylalanine
p-Di-(2-chloroethyl)amino-L-phenylalanine
p-L-Sarcolysin
p-L-sarcolysine
p-N,N-bis(2-chloroethyl)amino-L-phenylalanine
p-N-Bis(2-chloroethyl)amino-L-phenylalanine
p-N-Di(chloroethyl)aminophenylalanine
p-N-di(chloroethyl)aminophenylala nine
phenylalanine nitrogen mu stard
48
HydroxyureaapprovedPhase 2, Phase 1215127-07-13657
Synonyms:
1-HYDROXYUREA
127-07-1
4-03-00-00170 (Beilstein Handbook Reference)
55291_FLUKA
AC1L1GF8
AC1Q4ZXK
AI3-51139
BB_SC-7256
BRN 1741548
BSPBio_002164
Bio1_000451
Bio1_000940
Bio1_001429
Biosupressin
C07044
CCRIS 958
CHEBI:44423
CHEMBL467
CID3657
Carbamohydroxamic Acid
Carbamohydroxamic acid
Carbamohydroximic Acid
Carbamohydroximic acid
Carbamohydroxyamic Acid
Carbamohydroxyamic acid
Carbamoyl Oxime
Carbamoyl oxime
Carbamyl Hydroxamate
Carbamyl hydroxamate
Carrbamoyl Oxime
D00341
D006918
DB01005
DRG-0253
DivK1c_000556
Droxia
Droxia (TM)
Droxia (TN)
E0723DBA-5AF3-49D1-B5F6-59420AB87AC9
EINECS 204-821-7
EU-0100596
FT-0083575
H 8627
H0310
H20210
H8627_SIGMA
HMS1920F09
HMS2091L17
HMS501L18
HSDB 6887
HU
HYDREA (TN)
HYDROXY-UREA
Hidrix
Hidroxicarbamida
Hidroxicarbamida [INN-Spanish]
Hydrea
Hydrea (TM)
Hydrea, Biosupressin, Cytodrox, Hydroxyurea
Hydreia
Hydroxicarbamidum
Hydroxycarbamid
Hydroxycarbamide
Hydroxycarbamide (JAN/INN)
Hydroxycarbamidum
Hydroxycarbamidum [INN-Latin]
Hydroxycarbamine
Hydroxyharnstoff
Hydroxyharnstoff [German]
Hydroxylurea
Hydroxyurea
Hydroxyurea (D4)
Hydroxyurea (USP)
Hydroxyurea [USAN:BAN]
Hydroxyurea(d4)
 
Hydura
Hydurea
I05-0250
IDI1_000556
Idrossicarbamide
Idrossicarbamide [DCIT]
Idrossicarbamide [Dcit]
KBio1_000556
KBio2_001389
KBio2_003957
KBio2_006525
KBio3_001384
KBioGR_000383
KBioSS_001389
LS-709
Litaler
Litalir
Lopac-H-8627
Lopac0_000596
MLS001332381
MLS001332382
MLS002153389
MolMap_000029
MolPort-000-003-971
Mylocel
N-(Aminocarbonyl) Hydroxyamine
N-Carbamoylhydroxylamine
N-HYDROXY UREA
N-Hydroxymocovina
N-Hydroxymocovina [Czech]
N-Hydroxyurea
NCGC00015520-01
NCGC00015520-02
NCGC00015520-07
NCGC00093974-01
NCGC00093974-02
NCGC00093974-03
NCGC00093974-04
NCGC00093974-05
NCI C04831
NCI-C04831
NCI60_002773
NCIMech_000139
NHY
NINDS_000556
NSC 32065
NSC32065
Onco-Carbide
Onco-carbide
Oncocarbide
Oxyurea
S-phase/G-1 interface inhibitor
S1896_Selleck
SK 22591
SMR000059149
SPBio_000247
SPECTRUM1500344
SQ 1089
SQ-1089
Siklos
Spectrum2_000064
Spectrum3_000462
Spectrum4_000012
Spectrum5_000836
Spectrum_000909
Sterile Urea
TL8000673
UNII-X6Q56QN5QC
Ureaphil
WLN: ZVMQ
carbamide oxide
hydroxyaminomethanamide
hydroxyurea
nchembio.573-comp3
nchembio.90-comp4
nchembio749-comp3
tetratogen: inhibits ribonucleoside diphosphate reductase
49
AlendronateapprovedPhase 2160121268-17-5, 66376-36-12088
Synonyms:
(4-Amino-1-hydroxybutylidene)bisphosphonic acid
(4-Amino-1-hydroxybutylidene)diphosphonic acid
(4-amino-1-hydroxy-1-phosphonobutyl)phosphonic acid
(4-amino-1-hydroxybutane-1,1-diyl)bis(phosphonic acid)
(4-amino-1-hydroxybutylidene)bisphosphonic acid
121268-17-5 (mono-hydrochloride salt, trihydrate)
1yhm
4-Amino-1-hydroxybutane-1,1-diphosphonate
4-Amino-1-hydroxybutane-1,1-diphosphonic Acid
4-Amino-1-hydroxybutylidene-1,1-bis(phosphonic acid)
4-Amino-1-hydroxybutylidene-1,1-bisphosphonate
4-amino-1-hydroxybutane-1,1-diphosphonic acid
66376-36-1
ABDP
AC1L1CW3
AKOS001015793
ALENDRONATE SODIUM
ALENDRONIC ACID
Acide Alendronique
Acide Alendronique [INN-French]
Acide alendronique
Acide alendronique [INN-French]
Acido Alendronico
Acido Alendronico [INN-Spanish]
Acido alendronico
Acido alendronico [INN-Spanish]
Acidum Alendronicum
Acidum Alendronicum [INN-Latin]
Acidum alendronicum
Acidum alendronicum [INN-Latin]
Adronat
 
Alendronate
Alendronate Sodium
Alendronate sodium hydrate
Alendronic acid
Alendronic acid (INN)
Alendronic acid [INN:BAN]
Alendros
Arendal
BIDD:GT0180
C07752
CHEBI:2567
CHEMBL870
CID2088
D07119
DB00630
Fosamax
Fosamax Plus D
HSCI1_000337
LS-106421
MK 217
MK-217
MolPort-000-421-410
NCGC00096054-01
NCGC00096054-03
NCGC00096054-04
Onclast
Oprea1_422906
Phosphonic acid, (4-amino-1-hydroxybutylidene)bis
SPECTRUM1505166
ST50036159
UNII-X1J18R4W8P
alendronate
bisphosphonate, 65
50
alemtuzumabapproved, investigationalPhase 2, Phase 1303216503-57-0
Synonyms:
Campath
 
MabCampath
alemtuzumab

Interventional clinical trials:

(show top 50)    (show all 101)
idNameStatusNCT IDPhase
1A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseCompletedNCT01132690Phase 4
2Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
3A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.CompletedNCT00365131Phase 4
4The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseRecruitingNCT02528617Phase 4
5Phase 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
6Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher DiseaseNot yet recruitingNCT03021941Phase 4
7Antigen-Lipid-Driven Monoclonal Gammopathies Targeting Epicardial FatNot yet recruitingNCT02920190Phase 4
8A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher DiseaseCompletedNCT01411228Phase 3
9Oral Miglustat in Adult Patients With Stable Type 1 Gaucher DiseaseCompletedNCT00319046Phase 3
10A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)CompletedNCT01074944Phase 3
11Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseCompletedNCT01842841Phase 3
12Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseCompletedNCT01614574Phase 3
13Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
14A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 3
15Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 3
16An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher DiseaseCompletedNCT00635427Phase 3
17A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher DiseaseCompletedNCT01422187Phase 3
18A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)CompletedNCT00943111Phase 3
19A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher DiseaseCompletedNCT00376168Phase 3
20Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02770625Phase 3
21A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)CompletedNCT00891202Phase 3
22Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension TrialCompletedNCT00705939Phase 3
23Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human GlucocerebrosidaseCompletedNCT00712348Phase 3
24Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
25Skeletal Response to Eliglustat in Patients With Gaucher DiseaseRecruitingNCT02536755Phase 3
26The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher DiseaseWithdrawnNCT01161914Phase 3
27Intra-monocyte Imiglucerase Kinetics in Gaucher DiseaseUnknown statusNCT01951989Phase 2
28Phase II Study of Glucocerebrosidase in Patients With Gaucher DiseaseUnknown statusNCT00004293Phase 2
29Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)CompletedNCT00391625Phase 1, Phase 2
30Bone Response to Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001416Phase 2
31OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher DiseaseCompletedNCT00041535Phase 2
32A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02053896Phase 2
33Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseCompletedNCT01685216Phase 1, Phase 2
34A Study of Oral AT2101 in Treatment-naive Patients With Gaucher DiseaseCompletedNCT00446550Phase 2
35Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyCompletedNCT00433147Phase 2
36A Long-Term Extension Study of AT2101 in Type 1 Gaucher PatientsCompletedNCT00813865Phase 2
37Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's DiseaseCompletedNCT00004488Phase 2
38An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112CompletedNCT02107846Phase 2
39A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher PatientsCompletedNCT00358150Phase 2
40An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry DiseaseCompletedNCT00071877Phase 2
41Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)RecruitingNCT02583672Phase 2
42GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3RecruitingNCT02843035Phase 2
43Reduced Intensity Conditioning in Patients Aged ≤35 With Non-Malignant Disorders Undergoing UCBT, BMT, or PBSCTRecruitingNCT01962415Phase 2
44The Efficacy of PX0612 In The Treatment Of Irritable Bowel SyndromeRecruitingNCT02431533Phase 2
45Clinical Trial of Ambroxol in Patients With Type I Gaucher DiseaseSuspendedNCT01463215Phase 1, Phase 2
46PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseCompletedNCT00001410Phase 1
47Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's DiseaseCompletedNCT01427517Phase 1
48Phase 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
49Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease PatientsCompletedNCT01747980Phase 1
50A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy VolunteersCompletedNCT01881633Phase 1

Search NIH Clinical Center for Gaucher Disease, Type I


Cochrane evidence based reviews: gaucher disease

Genetic Tests for Gaucher Disease, Type I

About this section

Genetic tests related to Gaucher Disease, Type I:

id Genetic test Affiliating Genes
1 Gaucher Disease26 24 GBA
2 Gaucher's Disease, Type 126
3 Gaucher Disease Type 124

Anatomical Context for Gaucher Disease, Type I

About this section

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

35
Bone, Liver, Spleen, Bone marrow, Brain, Lung, Kidney

Animal Models for Gaucher Disease, Type I or affiliated genes

About this section

MGI Mouse Phenotypes related to Gaucher Disease, Type I:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.9ADA, GALC, GBA, GLA, HEXA, PSAP
2MP:00053678.3ADA, GALC, GLA, HEXA, PSAP, SCARB2
3MP:00053878.3ADA, ARSA, CHIT1, GALC, GBA, GLA
4MP:00053787.8ADA, CHIA, GALC, GBA, GLA, HEXA
5MP:00053767.7ADA, ARSA, GALC, GBA, GLA, HEXA

Publications for Gaucher Disease, Type I

About this section

Articles related to Gaucher Disease, Type I:

idTitleAuthorsYear
1
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? (20049531)
2010
2
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. (18226995)
2008
3
Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas. (11592516)
2001

Variations for Gaucher Disease, Type I

About this section

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

69 (show all 143)
id Symbol AA change Variation ID SNP ID
1GBAp.Val54LeuVAR_003255rs121908302
2GBAp.Phe76ValVAR_003256
3GBAp.Thr82IleVAR_003257rs1141811
4GBAp.Gly85GluVAR_003258rs77829017
5GBAp.Arg87TrpVAR_003259rs1141814
6GBAp.Lys118AsnVAR_003260rs121908312
7GBAp.Gly152GluVAR_003261
8GBAp.Ile158ThrVAR_003262
9GBAp.Arg159GlnVAR_003263rs79653797
10GBAp.Arg159TrpVAR_003264rs397515515
11GBAp.Pro161SerVAR_003265rs121908299
12GBAp.Thr173ProVAR_003266
13GBAp.Asp179HisVAR_003267rs147138516
14GBAp.Lys196GlnVAR_003268rs121908297
15GBAp.Arg209ProVAR_003269
16GBAp.Ala215AspVAR_003270
17GBAp.Pro217SerVAR_003271
18GBAp.Pro221ThrVAR_003272rs866075757
19GBAp.Trp223ArgVAR_003273rs61748906
20GBAp.Asn227SerVAR_003274rs364897
21GBAp.Asn227LysVAR_003275rs381418
22GBAp.Val230GlyVAR_003276rs381427
23GBAp.Gly234GluVAR_003277rs74462743
24GBAp.Ser235ProVAR_003278rs1064644
25GBAp.Gly241ArgVAR_003279rs398123534
26GBAp.Tyr251HisVAR_003280rs121908300
27GBAp.Phe252IleVAR_003281rs381737
28GBAp.Phe255TyrVAR_003282rs74500255
29GBAp.Ser276ProVAR_003283
30GBAp.Arg296GlnVAR_003284rs78973108
31GBAp.Pro305ArgVAR_003285rs79215220
32GBAp.Arg324CysVAR_003286rs765633380
33GBAp.Pro328LeuVAR_003287rs121908298
34GBAp.Lys342IleVAR_003288rs77714449
35GBAp.Ala348ValVAR_003289rs78396650
36GBAp.Trp351CysVAR_003290rs121908304
37GBAp.Tyr352HisVAR_003291
38GBAp.Asp354HisVAR_003292rs398123526
39GBAp.Ala357AspVAR_003293rs78188205
40GBAp.Thr362IleVAR_003294rs76539814
41GBAp.Leu363ProVAR_003295
42GBAp.Gly364ArgVAR_003296rs121908305
43GBAp.Glu365LysVAR_003297rs2230288
44GBAp.Cys381GlyVAR_003298rs121908306
45GBAp.Arg398GlnVAR_003299rs74979486
46GBAp.Ser403ThrVAR_003300rs121908307
47GBAp.Thr408MetVAR_003301rs2230289
48GBAp.Asn409SerVAR_003302rs76763715
49GBAp.Gly416SerVAR_003303rs121908311
50GBAp.Trp417GlyVAR_003304
51GBAp.Asp419AlaVAR_003305rs77284004
52GBAp.Asp419AsnVAR_003306
53GBAp.Gly428GluVAR_003307
54GBAp.Pro430LeuVAR_003308rs76910485
55GBAp.Asn431IleVAR_003309rs77738682
56GBAp.Val433LeuVAR_003310rs80356769
57GBAp.Asn435ThrVAR_003311rs75385858
58GBAp.Asp438AsnVAR_003312
59GBAp.Asp448HisVAR_003313rs1064651
60GBAp.Asp448ValVAR_003314rs77369218
61GBAp.Tyr451HisVAR_003315
62GBAp.Pro454ArgVAR_003316rs121908295
63GBAp.Phe456ValVAR_003317
64GBAp.Tyr457CysVAR_003318rs74752878
65GBAp.Lys464GluVAR_003319
66GBAp.Leu483ArgVAR_003320rs421016
67GBAp.Leu483ProVAR_003321rs421016
68GBAp.Ala485ProVAR_003322
69GBAp.Ala495ProVAR_003323rs368060
70GBAp.Arg502CysVAR_003324rs80356771
71GBAp.Gly517SerVAR_003326rs121908301
72GBAp.Arg535CysVAR_003327rs747506979
73GBAp.Arg535HisVAR_003328rs75822236
74GBAp.Ser146LeuVAR_009034rs758447515
75GBAp.Arg170CysVAR_009035rs398123530
76GBAp.Arg170LeuVAR_009036rs80356763
77GBAp.Pro198LeuVAR_009037rs80222298
78GBAp.Ala229GluVAR_009038rs75636769
79GBAp.Gly234TrpVAR_009039
80GBAp.His294GlnVAR_009040rs367968666
81GBAp.Phe298LeuVAR_009041
82GBAp.Arg324HisVAR_009042rs79696831
83GBAp.Tyr343CysVAR_009043rs77321207
84GBAp.Ala380ThrVAR_009045rs781306264
85GBAp.Ser405AsnVAR_009046
86GBAp.Trp432ArgVAR_009047
87GBAp.Asn501LysVAR_009049
88GBAp.Ile200SerVAR_010059rs77933015
89GBAp.Gly228ValVAR_010060rs78911246
90GBAp.Gly241GluVAR_010061rs77451368
91GBAp.Tyr244CysVAR_010062rs76026102
92GBAp.Gly304AspVAR_010063rs80116658
93GBAp.Ser310AsnVAR_010064rs74731340
94GBAp.Val391LeuVAR_010065rs398123527
95GBAp.Arg392GlyVAR_010066rs121908308
96GBAp.Ser405GlyVAR_010067
97GBAp.Val414LeuVAR_010068rs398123528
98GBAp.Pro426LeuVAR_010069
99GBAp.Pro440LeuVAR_010071rs74598136
100GBAp.Ile441ThrVAR_010072rs75564605
101GBAp.Phe450IleVAR_010073
102GBAp.Lys452GlnVAR_010074
103GBAp.Arg87GlnVAR_032197rs78769774
104GBAp.Pro161LeuVAR_032198rs79637617
105GBAp.Met162ValVAR_032199rs377325220
106GBAp.Asp166ValVAR_032200rs79796061
107GBAp.Ile200AsnVAR_032201rs77933015
108GBAp.Leu213PheVAR_032202rs374591570
109GBAp.Leu224PheVAR_032203
110GBAp.Gly232GluVAR_032204
111GBAp.Lys237GluVAR_032205rs773409311
112GBAp.Leu303IleVAR_032206
113GBAp.Glu388LysVAR_032207
114GBAp.Arg392TrpVAR_032208
115GBAp.Tyr402CysVAR_032209rs76228122
116GBAp.Leu410ValVAR_032210rs121908314
117GBAp.Asp419HisVAR_032211
118GBAp.Asn421LysVAR_032212
119GBAp.Gly429ArgVAR_032213
120GBAp.Phe436SerVAR_032214rs75243000
121GBAp.Met455ValVAR_032215
122GBAp.Leu500ProVAR_032216
123GBAp.Arg502ProVAR_032217
124GBAp.Cys55SerVAR_032394rs773007510
125GBAp.Asp63AsnVAR_032395
126GBAp.Ala129ThrVAR_032397
127GBAp.Asn156AspVAR_032398
128GBAp.Ile158SerVAR_032399rs77834747
129GBAp.Thr173IleVAR_032400rs78657146
130GBAp.Ala175GluVAR_032401rs79660787
131GBAp.Pro198ThrVAR_032402
132GBAp.His201ProVAR_032403rs76500263
133GBAp.Arg209CysVAR_032404rs398123532
134GBAp.Pro221LeuVAR_032405rs80205046
135GBAp.Ala229ThrVAR_032406
136GBAp.Val230GluVAR_032407rs381427
137GBAp.Thr270ArgVAR_032408rs76725886
138GBAp.Phe290LeuVAR_032409rs121908313
139GBAp.Met400IleVAR_032412rs149487315
140GBAp.Asp438TyrVAR_032413
141GBAp.Ile441PheVAR_032414
142GBAp.Gly460AspVAR_032415
143GBAp.His490ArgVAR_032416rs76071730

Clinvar genetic disease variations for Gaucher Disease, Type I:

5 (show all 60)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.680_681delATinsGG (p.Asn227Arg)indelLikely pathogenicrs786200979GRCh37Chr 1, 155208005: 155208006
2GBANM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205541: 155205595
3GBANM_001005741.2(GBA): c.431T> G (p.Leu144Arg)SNVLikely pathogenicrs794727708GRCh37Chr 1, 155209430: 155209430
4GBANM_001005741.2(GBA): c.896T> C (p.Ile299Thr)SNVLikely pathogenicrs794727908GRCh37Chr 1, 155207235: 155207235
5GBANM_000157.3(GBA): c.1505G> A (p.Arg502His)SNVLikely pathogenic, Pathogenicrs80356772GRCh37Chr 1, 155204986: 155204986
6GBANM_000157.3(GBA): c.703T> C (p.Ser235Pro)SNVPathogenicrs1064644GRCh37Chr 1, 155207983: 155207983
7GBANM_000157.3(GBA): c.93_94insG (p.Gln32Alafs)insertionPathogenicrs80356760GRCh37Chr 1, 155210442: 155210443
8GBANM_000157.3(GBA): c.415G> C (p.Ala139Pro)SNVLikely pathogenicrs878853314GRCh38Chr 1, 155239655: 155239655
9GBANM_000157.3(GBA): c.1177C> G (p.Leu393Val)SNVLikely pathogenicrs878853315GRCh38Chr 1, 155236292: 155236292
10GBANM_000157.3(GBA): c.1459G> A (p.Ala487Thr)SNVLikely pathogenicrs878853317GRCh37Chr 1, 155205032: 155205032
11GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)SNV, CompoundHeterozygotePathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
12GBANM_000157.3(GBA): c.1397T> G (p.Ile466Ser)SNVLikely pathogenicrs878853320GRCh38Chr 1, 155235303: 155235303
13GBANM_000157.3(GBA): c.866G> C (p.Gly289Ala)SNVLikely pathogenicrs878853321GRCh38Chr 1, 155237474: 155237474
14GBANM_001005741.2(GBA): c.521A> G (p.Tyr174Cys)SNVLikely pathogenicrs781152868GRCh37Chr 1, 155208375: 155208375
15GBANM_001005741.2(GBA): c.580A> T (p.Lys194Ter)SNVPathogenicrs886042192GRCh38Chr 1, 155238525: 155238525
16GBANM_000157.3(GBA): c.1226A> C (p.Asn409Thr)SNVPathogenicrs76763715GRCh37Chr 1, 155205634: 155205634
17GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)SNVPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
18GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)SNVPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
19GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)SNVLikely pathogenic, Pathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
20GBANM_000157.3(GBA): c.1343A> T (p.Asp448Val)SNVLikely pathogenic, Pathogenicrs77369218GRCh37Chr 1, 155205517: 155205517
21GBANM_000157.3(GBA): c.1504C> T (p.Arg502Cys)SNVPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
22GBANM_001005741.2(GBA): c.254G> A (p.Gly85Glu)SNVPathogenicrs77829017GRCh37Chr 1, 155209730: 155209730
23GBANM_001005741.2(GBA): c.764T> A (p.Phe255Tyr)SNVPathogenicrs74500255GRCh37Chr 1, 155207367: 155207367
24GBANM_001005741.2(GBA): c.586A> C (p.Lys196Gln)SNVPathogenicrs121908297GRCh37Chr 1, 155208310: 155208310
25GBANM_000157.3(GBA): c.754T> A (p.Phe252Ile)SNVPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
26GBANM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18)duplicationPathogenicrs387906315GRCh37Chr 1, 155210452: 155210452
27GBANM_000157.3(GBA): c.27+1G> ASNVPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
28GBANM_001005741.2(GBA): c.983C> T (p.Pro328Leu)SNVPathogenicrs121908298GRCh37Chr 1, 155207148: 155207148
29GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)SNVPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
30GBANM_001005741.2(GBA): c.72delC (p.Leu25Serfs)deletionPathogenicrs397518433GRCh37Chr 1, 155210464: 155210464
31GBANM_001005741.2(GBA): c.481C> T (p.Pro161Ser)SNVPathogenicrs121908299GRCh37Chr 1, 155208415: 155208415
32GBANM_001005741.2(GBA): c.751T> C (p.Tyr251His)SNVPathogenicrs121908300GRCh37Chr 1, 155207935: 155207935
33GBANM_001005741.2(GBA): c.1549G> A (p.Gly517Ser)SNVPathogenicrs121908301GRCh37Chr 1, 155204848: 155204848
34GBANM_000157.3(GBA): c.1604G> A (p.Arg535His)SNVPathogenicrs75822236GRCh37Chr 1, 155204793: 155204793
35GBANM_001005741.2(GBA): c.160G> T (p.Val54Leu)SNVPathogenicrs121908302GRCh37Chr 1, 155209824: 155209824
36GBANM_000157.3(GBA): c.680A> G (p.Asn227Ser)SNVPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
37GBANM_001005741.2(GBA): c.763T> G (p.Phe255Val)SNVPathogenicrs121908303GRCh38Chr 1, 155237577: 155237577
38GBANM_001005741.2(GBA): c.1043C> T (p.Ala348Val)SNVPathogenicrs78396650GRCh37Chr 1, 155206217: 155206217
39GBANM_001005741.2(GBA): c.1053G> T (p.Trp351Cys)SNVPathogenicrs121908304GRCh37Chr 1, 155206207: 155206207
40GBANM_001005741.2(GBA): c.1090G> A (p.Gly364Arg)SNVLikely pathogenic, Pathogenicrs121908305GRCh37Chr 1, 155206170: 155206170
41GBANM_001005741.2(GBA): c.1208G> C (p.Ser403Thr)SNVPathogenicrs121908307GRCh37Chr 1, 155206052: 155206052
42GBANM_001005741.2(GBA): c.259C> T (p.Arg87Trp)SNVPathogenicrs1141814GRCh37Chr 1, 155209725: 155209725
43GBANM_001005741.2(GBA): c.1319C> T (p.Pro440Leu)SNVPathogenicrs74598136GRCh37Chr 1, 155205541: 155205541
44GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)SNVPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
45GBANM_000157.3(GBA): c.1246G> A (p.Gly416Ser)SNVPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
46GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)SNVPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
47GBANM_000157.3(GBA): c.509G> T (p.Arg170Leu)SNVPathogenicrs80356763GRCh37Chr 1, 155208387: 155208387
48GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)SNVPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
49GBANM_001005741.2(GBA): c.1228C> G (p.Leu410Val)SNVPathogenicrs121908314GRCh37Chr 1, 155205632: 155205632
50GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)SNV, HaplotypePathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
51GBANM_000157.3(GBA): c.475C> T (p.Arg159Trp)SNVPathogenicrs439898GRCh37Chr 1, 155208421: 155208421
52GBANM_001005741.2(GBA): c.1060G> C (p.Asp354His)SNVPathogenicrs398123526GRCh37Chr 1, 155206200: 155206200
53GBANM_001005741.2(GBA): c.115+1G> ASNVPathogenicrs104886460GRCh37Chr 1, 155210420: 155210420
54GBANM_001005741.2(GBA): c.1171G> C (p.Val391Leu)SNVPathogenicrs398123527GRCh37Chr 1, 155206089: 155206089
55GBANM_001005741.2(GBA): c.1240G> T (p.Val414Leu)SNVLikely pathogenicrs398123528GRCh37Chr 1, 155205620: 155205620
56GBANM_001005741.2(GBA): c.487delG (p.Ala163Profs)deletionPathogenicrs398123529GRCh37Chr 1, 155208409: 155208409
57GBANM_001005741.2(GBA): c.508C> T (p.Arg170Cys)SNVPathogenicrs398123530GRCh37Chr 1, 155208388: 155208388
58GBANM_001005741.2(GBA): c.625C> T (p.Arg209Cys)SNVPathogenicrs398123532GRCh37Chr 1, 155208061: 155208061
59GBANM_001005741.2(GBA): c.667T> C (p.Trp223Arg)SNVPathogenicrs61748906GRCh37Chr 1, 155208019: 155208019
60GBANM_001005741.2(GBA): c.721G> A (p.Gly241Arg)SNVPathogenicrs409652GRCh37Chr 1, 155207965: 155207965

Expression for genes affiliated with Gaucher Disease, Type I

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

Pathways for genes affiliated with Gaucher Disease, Type I

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GO Terms for genes affiliated with Gaucher Disease, Type I

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432028.6ARSA, GALC, GBA, GLA, HEXA, PSAP
2lysosomeGO:00057648.3ACP5, ADA, ARSA, CHIT1, GALC, GLA
3extracellular exosomeGO:00700627.6ACP5, ARSA, GALC, GBA, GLA, HEXA
4extracellular spaceGO:00056156.8ACP5, ADA, ARSA, CCL18, CHIA, CHIT1

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1termination of signal transductionGO:002302110.5GBA, SMPD1
2response to pHGO:000926810.3ARSA, GBA
3negative regulation of nitric oxide biosynthetic processGO:004501910.3ACP5, GLA
4polysaccharide catabolic processGO:000027210.3CHIA, CHIT1
5chitin catabolic processGO:000603210.2CHIA, CHIT1
6glycosylceramide catabolic processGO:004647710.1GBA3, GLA
7ceramide biosynthetic processGO:004651310.0GBA, SMPD1
8negative regulation of inflammatory responseGO:00507289.7ACP5, ADA, GBA
9positive regulation of protein dephosphorylationGO:00353079.6GBA, SMPD1
10carbohydrate metabolic processGO:00059758.2CHIA, CHIT1, GALC, GBA, GBA3, HEXA
11glycosphingolipid metabolic processGO:00066877.7ARSA, GALC, GBA, GBA3, GLA, HEXA

Molecular functions related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1chitinase activityGO:000456810.0CHIA, CHIT1
2glucosylceramidase activityGO:000434810.0GBA, GBA3
3chitin bindingGO:00080619.7CHIA, CHIT1

Sources for Gaucher Disease, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet