MCID: GCH001
MIFTS: 63

Gaucher's Disease

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

Aliases & Classifications for Gaucher's Disease

MalaCards integrated aliases for Gaucher's Disease:

Name: Gaucher's Disease 12 25 14
Gaucher Disease 12 72 23 50 24 25 51 56 29 52 41 42 69
Glucocerebrosidase Deficiency 23 24 25 56
Glucosylceramidase Deficiency 23 50 24 25
Kerasin Thesaurismosis 12 50 25
Lipoid Histiocytosis 12 25 69
Glucosylceramide Beta-Glucosidase Deficiency 12 25
Acid Beta-Glucosidase Deficiency 12 56
Acute Cerebral Gaucher Disease 50 69
Cerebroside Lipidosis Syndrome 50 25
Glucosyl Cerebroside Lipidosis 50 25
Gaucher Splenomegaly 50 25
Glucocerebrosidosis 50 25
Kerasin Lipoidosis 50 25
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 25
Gaucher Disease, Type 1 69
Gaucher Disease, Type 2 69
Kerasin Histiocytosis 25
Gaucher Disease, Type 13
Sphingolipidosis 1 50
Gaucher Syndrome 25
Gauchers Disease 25
Gd 25

Characteristics:

Orphanet epidemiological data:

56
gaucher disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages;

HPO:

32
gaucher's disease:
Mortality/Aging death in infancy


Classifications:



Summaries for Gaucher's Disease

NINDS : 51 Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases.  Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen).  Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase.  Fatty materials can accumulate in the brain, spleen, liver, lungs, bone marrow, and kidneys.  Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes.  There are three common clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), typically does not affect the brain. Symptoms may begin early in life or in adulthood.  People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia  They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms.  In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms usually begin by 3 months of age and include extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affecetd children usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal  irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders.  

MalaCards based summary : Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type iii and gaucher disease, type i, and has symptoms including short stature, dysphagia and ataxia. An important gene associated with Gaucher's Disease is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Liraglutide and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related phenotype is homeostasis/metabolism.

Disease Ontology : 12 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 : 50 gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. signs and symptoms vary widely among affected individuals. there are different types of this condition: gaucher disease perinatal lethal, gaucher disease type 1, gaucher disease type 2, and gaucher disease type 3. gaucher disease type 1 is the most common form of this condition. gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the gba gene. last updated: 11/4/2015

MedlinePlus : 41 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

Wikipedia : 72 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside... more...

GeneReviews: NBK1269

Related Diseases for Gaucher's Disease

Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I Gaucher Disease, Type Ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

Diseases related to Gaucher's Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
id Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 34.6 GBA PSAP
2 gaucher disease, type i 32.1 CHIT1 GBA PSAP SCARB2 UGCG
3 gardner-diamond syndrome 11.5
4 niemann-pick disease 11.0
5 13q12.3 microdeletion syndrome 10.6 GBA SNCA
6 chondrodysplasia punctata, unclassified 10.6 CHIT1 GBA
7 gaucher disease, type ii 10.6 GBA PSAP
8 waldenstroem's macroglobulinemia 10.4 GBA SNCA
9 tay-sachs disease, b variant, adult form 10.4 ARSA PSAP
10 tay-sachs disease, b variant, juvenile form 10.4 ARSA PSAP
11 autosomal recessive infantile hypercalcemia 10.4 ARSA PSAP
12 piebald trait, kit-related 10.4 GBA SNCA
13 atrioventricular septal defect 5 10.3 PSAP SNCA
14 spina bifida occulta 10.3 ARSA PSAP
15 graves disease 1 10.1 ARSA CHIT1 PSAP
16 ovarian clear cell malignant adenofibroma 9.9 ARSA GBA GBA3
17 osteochondritis dissecans 9.8 CCL18 CHIT1 GBA PSAP UGCG
18 uterine corpus cancer 9.7 ARSA GBA GBA3 PSAP
19 hypoinsulinemic hypoglycemia with hemihypertrophy 9.6 ACP5 BGLAP
20 bone resorption disease 9.5 ACP5 BGLAP
21 dysostosis 9.5 ARSA GBA GBA3 PSAP SCARB2
22 bacillary angiomatosis 9.4 ACP5 BGLAP
23 pes anserinus tendinitis or bursitis 9.2 ACP5 BGLAP
24 hypothalamic disease 5.2 ACP5 ARSA BGLAP CCL18 CHIT1 GBA

Graphical network of the top 20 diseases related to Gaucher's Disease:



Diseases related to Gaucher's Disease

Symptoms & Phenotypes for Gaucher's Disease

Human phenotypes related to Gaucher's Disease:

56 32 (show top 50) (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
2 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
3 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
4 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
5 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
6 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
7 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
8 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
9 hydrocephalus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000238
10 thrombocytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001873
11 anemia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001903
12 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
13 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
14 oculomotor apraxia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000657
15 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
16 arthrogryposis multiplex congenita 56 32 occasional (7.5%) Occasional (29-5%) HP:0002804
17 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
18 delayed puberty 56 32 frequent (33%) Frequent (79-30%) HP:0000823
19 osteopenia 56 32 frequent (33%) Frequent (79-30%) HP:0000938
20 recurrent fractures 56 32 frequent (33%) Frequent (79-30%) HP:0002757
21 bone pain 56 32 frequent (33%) Frequent (79-30%) HP:0002653
22 pancytopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001876
23 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
24 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
25 osteomyelitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002754
26 fever 56 32 frequent (33%) Frequent (79-30%) HP:0001945
27 joint stiffness 56 32 occasional (7.5%) Occasional (29-5%) HP:0001387
28 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
29 respiratory insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0002093
30 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
31 hydrops fetalis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001789
32 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252
33 feeding difficulties in infancy 56 32 frequent (33%) Frequent (79-30%) HP:0008872
34 developmental regression 56 32 frequent (33%) Frequent (79-30%) HP:0002376
35 delayed skeletal maturation 56 32 frequent (33%) Frequent (79-30%) HP:0002750
36 aortic valve calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0004380
37 mitral valve calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0004382
38 generalized tonic-clonic seizures 56 32 frequent (33%) Frequent (79-30%) HP:0002069
39 retinopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000488
40 arthralgia 56 32 frequent (33%) Frequent (79-30%) HP:0002829
41 pulmonary fibrosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002206
42 osteolysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002797
43 corneal opacity 56 32 occasional (7.5%) Occasional (29-5%) HP:0007957
44 hearing impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000365
45 gingival bleeding 56 32 occasional (7.5%) Occasional (29-5%) HP:0000225
46 joint dislocation 56 32 frequent (33%) Frequent (79-30%) HP:0001373
47 cranial nerve paralysis 56 32 occasional (7.5%) Occasional (29-5%) HP:0006824
48 increased bone mineral density 56 32 occasional (7.5%) Occasional (29-5%) HP:0011001
49 aseptic necrosis 56 32 frequent (33%) Frequent (79-30%) HP:0010885
50 cherry red spot of the macula 56 32 occasional (7.5%) Occasional (29-5%) HP:0010729

UMLS symptoms related to Gaucher's Disease:


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

MGI Mouse Phenotypes related to Gaucher's Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.32 ARSA GBA GBA2 MRC1 MTX1 PKLR

Drugs & Therapeutics for Gaucher's Disease

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

(show top 50) (show all 90)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4 204656-20-2 44147092
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
3 Bone Density Conservation Agents Phase 4,Phase 2
4 Micronutrients Phase 4,Phase 2
5 Trace Elements Phase 4,Phase 2
6 Vitamins Phase 4,Phase 2
7 Antibodies Phase 4
8 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
9 Immunoglobulins Phase 4
10 glucagon Phase 4
11 Glucagon-Like Peptide 1 Phase 4
12 Hormone Antagonists Phase 4
13 Hormones Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Incretins Phase 4
16
Miglustat Approved Phase 3,Phase 2 72599-27-0 51634
17
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
18
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
19
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
20
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
21
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
23 tannic acid Approved, Nutraceutical Phase 3
24
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
25 Anti-HIV Agents Phase 3,Phase 2
26 Anti-Infective Agents Phase 3,Phase 2,Phase 1
27 Anti-Retroviral Agents Phase 3,Phase 2
28 Antiviral Agents Phase 3,Phase 2,Phase 1
29 Cardiac Glycosides Phase 3,Phase 2
30 Glycoside Hydrolase Inhibitors Phase 3,Phase 2
31 Alkylating Agents Phase 2, Phase 3
32 Antilymphocyte Serum Phase 2, Phase 3
33 Antirheumatic Agents Phase 2, Phase 3
34 Immunosuppressive Agents Phase 2, Phase 3
35 Methylprednisolone acetate Phase 2, Phase 3
36 Methylprednisolone Hemisuccinate Phase 2, Phase 3
37 Prednisolone acetate Phase 2, Phase 3
38 Prednisolone hemisuccinate Phase 2, Phase 3
39 Prednisolone phosphate Phase 2, Phase 3
40
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
41
Calcium Carbonate Approved Phase 2 471-34-1
42
Acetylcysteine Approved, Investigational Phase 2,Phase 1 616-91-1 12035
43
alemtuzumab Approved, Investigational Phase 2 216503-57-0
44
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
45
Hydroxyurea Approved Phase 2 127-07-1 3657
46
Melphalan Approved Phase 2 148-82-3 4053 460612
47 Thiotepa Approved Phase 2 52-24-4 5453
48
Ambroxol Approved Phase 1, Phase 2 18683-91-5
49
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
50
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 6221 10883523 5280795

Interventional clinical trials:

(show top 50) (show all 97)

id Name Status NCT ID Phase Drugs
1 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
2 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
3 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
4 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4 Velaglucerase alfa
5 Phase 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 Years Recruiting NCT02574286 Phase 4 Velaglucerase alfa
6 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
7 Antigen-Lipid-Driven Monoclonal Gammopathies Targeting Epicardial Fat Not yet recruiting NCT02920190 Phase 4 Liraglutide
8 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
9 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
10 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3 Eliglustat tartrate
11 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
12 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
13 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
14 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
15 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
16 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
17 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
18 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
19 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
20 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
21 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
22 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
23 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
24 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
25 Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat
26 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
27 Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Unknown status NCT01951989 Phase 2 Imiglucérase (drug) pharmacokinetics
28 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
29 Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Completed NCT00391625 Phase 1, Phase 2 GA-GCB
30 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
31 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
32 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896 Phase 2
33 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
34 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2 AT2101
35 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 AT2101
36 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2 AT2101
37 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
38 An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 Completed NCT02107846 Phase 2 PRX-112
39 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
40 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
41 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2 N-acetylcysteine
42 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
43 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
44 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2 Ambroxol
45 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
46 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease Completed NCT01427517 Phase 1 N-acetylcysteine
47 Phase 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 Disease Completed NCT00004294 Phase 1
48 Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients Completed NCT01747980 Phase 1 PRX-112
49 A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers Completed NCT01881633 Phase 1 ISU302;Placebo
50 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1

Search NIH Clinical Center for Gaucher's Disease

Cochrane evidence based reviews: gaucher disease

Genetic Tests for Gaucher's Disease

Genetic tests related to Gaucher's Disease:

id Genetic test Affiliating Genes
1 Gaucher Disease 29 24 GBA

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

39
Bone, Liver, Spleen, Bone Marrow, Brain, Lung, Kidney

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 540)
id Title Authors Year
1
Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3. ( 28690585 )
2017
2
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned? ( 28430167 )
2017
3
Assessment of the liver and spleen in children with Gaucher's disease type I with diffusion-weighted MR imaging. ( 28012701 )
2016
4
Impaired gait kinematics in type 1 Gaucher's Disease. ( 26756743 )
2016
5
Gaucher's Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family. ( 26887759 )
2016
6
Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease. ( 27619775 )
2016
7
Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland. ( 26589705 )
2016
8
Role of Nanotechnology for Enzyme Replacement Therapy in Lysosomal Diseases. A Focus on Gaucher's Disease. ( 26860997 )
2016
9
A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease. ( 27098793 )
2016
10
Gaucher's Disease: A Rare Case, Diagnosed By Fine Needle Aspiration Cytology. ( 27134885 )
2016
11
Eliglustat for Gaucher's disease: trippingly on the tongue. ( 25819692 )
2015
12
Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patients. ( 26379319 )
2015
13
Plant-based oral delivery of I^-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease. ( 25828481 )
2015
14
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. ( 25819691 )
2015
15
Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease. ( 26312487 )
2015
16
Gaucher's disease: report of 11 cases with review of literature. ( 25995815 )
2015
17
RIPK3 as a potential therapeutic target for Gaucher's disease. ( 24441827 )
2014
18
In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools. ( 24904648 )
2014
19
Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease. ( 25246842 )
2014
20
Gaucher's disease oral therapy gets nod from FDA. ( 25299908 )
2014
21
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease. ( 25126989 )
2014
22
Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. ( 24811560 )
2014
23
Oral health of a child being treated for subtype I Gaucher's disease. ( 24588495 )
2014
24
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. ( 24125842 )
2014
25
Docking and SAR studies of calystegines: binding orientation and influence on pharmacological chaperone effects for Gaucher's disease. ( 24657053 )
2014
26
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. ( 24671628 )
2014
27
Horizontal gaze palsy with progressive myoclonic epilepsy: rare presentation of Gaucher's disease. ( 23644323 )
2013
28
Iron staining in gammopathy-related crystal-storing histiocytosis: a misleading feature to the differential diagnosis with Gaucher's disease. ( 23962646 )
2013
29
A case of Gaucher's disease progressing to liver cirrhosis. ( 23715368 )
2013
30
Gaucher's disease and cancer: a sphingolipid perspective. ( 23510065 )
2013
31
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. ( 24575292 )
2013
32
A case of unusual association of Gaucher's disease with spinal tuberculosis. ( 23981762 )
2013
33
Middle-ear involvement in type I Gaucher's disease - a unique case. ( 24300021 )
2013
34
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. ( 23225227 )
2013
35
Acute lymphoblastic leukemia during enzyme replacement therapy in type 1 Gaucher's disease. ( 23604243 )
2013
36
Phenotypic variability of prenatally presenting Gaucher's disease. ( 23749476 )
2013
37
Haemorrhagic pericardial effusion in type I Gaucher's disease. ( 24974496 )
2013
38
B cell lymphoma and myeloma in murine Gaucher's disease. ( 23775597 )
2013
39
Hematologic manifestations and leukemia in Gaucher's disease. ( 23604244 )
2013
40
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. ( 23118351 )
2013
41
Gaucher's disease: rare presentation of a rare disease. ( 22914376 )
2013
42
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease. ( 23783781 )
2013
43
Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. ( 22718272 )
2013
44
A Rare Case of Hemoglobin E Hemoglobinopathy with Gaucher's Disease. ( 24426351 )
2013
45
Vestibular and Saccadic Abnormalities in Gaucher's Disease. ( 24142279 )
2013
46
Gaucher's disease treatment option rides on carrot cells' biologic power. ( 22787745 )
2012
47
Medical image. an unusual cause of massive splenomegaly in an adult. Gaucher's disease. ( 22960721 )
2012
48
Taliglucerase alfa for the treatment of Gaucher's disease. ( 22916340 )
2012
49
Relatively rare entity of avascular necrosis of maxillary bone caused by Gaucher's disease--a case report. ( 22285334 )
2012
50
Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings. ( 22988312 )
2012

Variations for Gaucher's Disease

ClinVar genetic disease variations for Gaucher's Disease:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
3 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
4 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
5 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
6 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
7 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
8 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
9 GBA NM_000157.3(GBA): c.27+1G> A single nucleotide variant Pathogenic rs80356759 GRCh37 Chromosome 1, 155210876: 155210876
10 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
11 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
12 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
13 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
14 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387
15 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Pathogenic/Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
16 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
17 GBA NM_000157.3(GBA): c.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh37 Chromosome 1, 155210442: 155210443
18 GBA NM_000157.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
19 GBA NM_000157.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 GRCh37 Chromosome 1, 155208421: 155208421
20 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595

Expression for Gaucher's Disease

Search GEO for disease gene expression data for Gaucher's Disease.

Pathways for Gaucher's Disease

Pathways related to Gaucher's Disease according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 ARSA GBA GBA2 GBA3 PSAP UGCG
2 11.44 ACP5 ARSA GBA PSAP SCARB2
3 10.41 GBA GBA2

GO Terms for Gaucher's Disease

Cellular components related to Gaucher's Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 ARSA BGLAP CCL18 CHIT1 GBA PSAP
2 lysosomal lumen GO:0043202 9.26 ARSA GBA PSAP SCARB2
3 lysosome GO:0005764 9.17 ACP5 ARSA CHIT1 GBA PSAP SCARB2

Biological processes related to Gaucher's Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.78 GBA GBA2 PSAP UGCG
2 metabolic process GO:0008152 9.77 ARSA CHIT1 GBA GBA2 PKLR
3 response to estrogen GO:0043627 9.5 ARSA BGLAP GBA
4 response to testosterone GO:0033574 9.46 BGLAP GBA
5 response to pH GO:0009268 9.43 ARSA GBA
6 cellular response to epinephrine stimulus GO:0071872 9.4 PKLR SNCA
7 glycoside catabolic process GO:0016139 9.26 GBA2 GBA3
8 sphingolipid metabolic process GO:0006665 9.26 GBA GBA2 PSAP UGCG
9 glucosylceramide catabolic process GO:0006680 9.16 GBA GBA2
10 glycosphingolipid metabolic process GO:0006687 9.1 ARSA GBA GBA2 GBA3 PSAP UGCG

Molecular functions related to Gaucher's Disease according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 9.43 CHIT1 GBA GBA2
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.37 CHIT1 GBA2
3 ferrous iron binding GO:0008198 9.32 ACP5 SNCA
4 beta-galactosidase activity GO:0004565 9.16 GBA3 PSAP
5 beta-glucosidase activity GO:0008422 8.96 GBA2 GBA3
6 glucosylceramidase activity GO:0004348 8.8 GBA GBA2 GBA3

Sources for Gaucher's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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