MCID: GCH001
MIFTS: 62

Gaucher's Disease

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

Aliases & Classifications for Gaucher's Disease

MalaCards integrated aliases for Gaucher's Disease:

Name: Gaucher's Disease 12 24 14
Gaucher Disease 12 72 23 49 24 50 55 36 28 51 40 41 69
Glucocerebrosidase Deficiency 23 24 55
Glucosylceramidase Deficiency 23 49 24
Kerasin Thesaurismosis 12 49 24
Lipoid Histiocytosis 12 24 69
Glucosylceramide Beta-Glucosidase Deficiency 12 24
Acid Beta-Glucosidase Deficiency 12 55
Acute Cerebral Gaucher Disease 49 69
Cerebroside Lipidosis Syndrome 49 24
Glucosyl Cerebroside Lipidosis 49 24
Gaucher Splenomegaly 49 24
Glucocerebrosidosis 49 24
Kerasin Lipoidosis 49 24
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 24
Gaucher Disease, Type 1 69
Gaucher Disease, Type 2 69
Kerasin Histiocytosis 24
Gaucher Disease, Type 13
Sphingolipidosis 1 49
Gaucher Syndrome 24
Gauchers Disease 24
Gd 24

Characteristics:

Orphanet epidemiological data:

55
gaucher disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages;

HPO:

31
gaucher's disease:
Mortality/Aging death in infancy


Classifications:



Summaries for Gaucher's Disease

NINDS : 50 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 proteinuria, gingival bleeding and hydrocephalus. An important gene associated with Gaucher's Disease is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Other glycan degradation and Sphingolipid metabolism. The drugs Liraglutide and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen.

NIH Rare Diseases : 49 Gaucher disease refers to a group of inheritedmetabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder). Signs and symptoms vary widely among affected individuals and may include skeletal disorders, enlarged spleen and liver (hepatosplenomegaly), liver malfunction, anemia,  low platelet counts, bone problems, and neurological problems.  There are different types of Gaucher disease classified according to specific features and severity:  Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2,  Gaucher disease type 3, and cardiovascular type or Type 3C (where the main problem is a hardening (calcification) of the heart valves). Gaucher disease type 1 is the most common form. Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene. Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Last updated: 10/28/2017

MedlinePlus : 40 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

Genetics Home Reference : 24 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.

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.

GeneReviews: NBK1269

Related Diseases for Gaucher's Disease

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:

55 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
2 gingival bleeding 55 31 occasional (7.5%) Occasional (29-5%) HP:0000225
3 hydrocephalus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000238
4 hearing impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000365
5 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
6 retinopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000488
7 oculomotor apraxia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000657
8 hematuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000790
9 delayed puberty 55 31 frequent (33%) Frequent (79-30%) HP:0000823
10 osteopenia 55 31 frequent (33%) Frequent (79-30%) HP:0000938
11 abnormality of skin pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001000
12 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
13 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
14 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
15 joint dislocation 55 31 frequent (33%) Frequent (79-30%) HP:0001373
16 joint stiffness 55 31 occasional (7.5%) Occasional (29-5%) HP:0001387
17 cirrhosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001394
18 splenomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001744
19 hydrops fetalis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001789
20 thrombocytopenia 55 31 frequent (33%) Frequent (79-30%) HP:0001873
21 pancytopenia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001876
22 anemia 55 31 hallmark (90%) Very frequent (99-80%) HP:0001903
23 fever 55 31 frequent (33%) Frequent (79-30%) HP:0001945
24 dysphagia 55 31 frequent (33%) Frequent (79-30%) HP:0002015
25 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
26 generalized tonic-clonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002069
27 abnormality of extrapyramidal motor function 55 31 occasional (7.5%) Occasional (29-5%) HP:0002071
28 pulmonary arterial hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0002092
29 respiratory insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0002093
30 ventriculomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0002119
31 generalized myoclonic seizures 55 31 frequent (33%) Frequent (79-30%) HP:0002123
32 pulmonary fibrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002206
33 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
34 developmental regression 55 31 frequent (33%) Frequent (79-30%) HP:0002376
35 bone pain 55 31 frequent (33%) Frequent (79-30%) HP:0002653
36 delayed skeletal maturation 55 31 frequent (33%) Frequent (79-30%) HP:0002750
37 osteomyelitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002754
38 recurrent fractures 55 31 frequent (33%) Frequent (79-30%) HP:0002757
39 osteoarthritis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002758
40 osteolysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0002797
41 arthrogryposis multiplex congenita 55 31 occasional (7.5%) Occasional (29-5%) HP:0002804
42 arthralgia 55 31 frequent (33%) Frequent (79-30%) HP:0002829
43 short stature 55 31 occasional (7.5%) Occasional (29-5%) HP:0004322
44 hemiplegia/hemiparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004374
45 aortic valve calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0004380
46 mitral valve calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0004382
47 interstitial pulmonary abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0006530
48 cranial nerve paralysis 55 31 occasional (7.5%) Occasional (29-5%) HP:0006824
49 corneal opacity 55 31 occasional (7.5%) Occasional (29-5%) HP:0007957
50 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064

UMLS symptoms related to Gaucher's Disease:


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

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)
# 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
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
17
Miglustat Approved Phase 3,Phase 2 72599-27-0 51634
18
Benzocaine Approved, Investigational 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, Investigational 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 460612 4053
47 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
48
Ambroxol Approved, Investigational Phase 1, Phase 2 18683-91-5
49
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
50
Cholecalciferol Approved, Nutraceutical Phase 2 67-97-0 10883523 5280795 6221

Interventional clinical trials:

(show top 50) (show all 98)

# 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 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
5 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
6 Antigen-Lipid-Driven Monoclonal Gammopathies Targeting Epicardial Fat Not yet recruiting NCT02920190 Phase 4 Liraglutide
7 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
8 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
9 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
10 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
11 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
12 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
13 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
14 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
15 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
16 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
17 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
18 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
19 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
20 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
21 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)
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 Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat GZ385660
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 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896 Phase 2
31 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
32 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
33 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2 AT2101
34 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 AT2101
35 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
36 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2 AT2101
37 An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 Completed NCT02107846 Phase 2 PRX-112
38 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
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 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease Completed NCT01427517 Phase 1 N-acetylcysteine
46 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
47 Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients Completed NCT01747980 Phase 1 PRX-112
48 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
49 A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers Completed NCT01881633 Phase 1 ISU302;Placebo
50 Phase I Single Dose-Escalation Safety Study of Human Glucocerebrosidase (prGCD) Completed NCT00258778 Phase 1 Human Glucocerebrosidase (prGCD)

Search NIH Clinical Center for Gaucher's Disease

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: gaucher disease

Genetic Tests for Gaucher's Disease

Genetic tests related to Gaucher's Disease:

# Genetic test Affiliating Genes
1 Gaucher Disease 28

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

38
Bone, Liver, Spleen, Bone Marrow, Brain, Lung, Kidney

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 544)
# Title Authors Year
1
Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease. ( 29061473 )
2017
2
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned? ( 28430167 )
2017
3
Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3. ( 28690585 )
2017
4
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. ( 29354164 )
2017
5
A Comparison of Ultrasonography, Computerised Tomography, and Conventional MRI Findings for Splenic Nodules Associated with Type 1 Gaucher's Disease with Diffusion-Weighted MRI Findings. ( 29386979 )
2017
6
Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/I^-Catenin Downregulation. ( 29198828 )
2017
7
Gaucher's Disease: A Rare Case, Diagnosed By Fine Needle Aspiration Cytology. ( 27134885 )
2016
8
Assessment of the liver and spleen in children with Gaucher's disease type I with diffusion-weighted MR imaging. ( 28012701 )
2016
9
Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease. ( 27619775 )
2016
10
Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland. ( 26589705 )
2016
11
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
12
A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease. ( 27098793 )
2016
13
Role of Nanotechnology for Enzyme Replacement Therapy in Lysosomal Diseases. A Focus on Gaucher's Disease. ( 26860997 )
2016
14
Impaired gait kinematics in type 1 Gaucher's Disease. ( 26756743 )
2016
15
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
16
Plant-based oral delivery of I^-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease. ( 25828481 )
2015
17
Gaucher's disease: report of 11 cases with review of literature. ( 25995815 )
2015
18
Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease. ( 26312487 )
2015
19
Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patients. ( 26379319 )
2015
20
Eliglustat for Gaucher's disease: trippingly on the tongue. ( 25819692 )
2015
21
Gaucher's disease oral therapy gets nod from FDA. ( 25299908 )
2014
22
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. ( 24671628 )
2014
23
Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease. ( 25246842 )
2014
24
Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. ( 24811560 )
2014
25
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. ( 24125842 )
2014
26
RIPK3 as a potential therapeutic target for Gaucher's disease. ( 24441827 )
2014
27
Docking and SAR studies of calystegines: binding orientation and influence on pharmacological chaperone effects for Gaucher's disease. ( 24657053 )
2014
28
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease. ( 25126989 )
2014
29
Oral health of a child being treated for subtype I Gaucher's disease. ( 24588495 )
2014
30
In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools. ( 24904648 )
2014
31
A Rare Case of Hemoglobin E Hemoglobinopathy with Gaucher's Disease. ( 24426351 )
2013
32
Gaucher's disease: rare presentation of a rare disease. ( 22914376 )
2013
33
A case of Gaucher's disease progressing to liver cirrhosis. ( 23715368 )
2013
34
Acute lymphoblastic leukemia during enzyme replacement therapy in type 1 Gaucher's disease. ( 23604243 )
2013
35
Horizontal gaze palsy with progressive myoclonic epilepsy: rare presentation of Gaucher's disease. ( 23644323 )
2013
36
Hematologic manifestations and leukemia in Gaucher's disease. ( 23604244 )
2013
37
Iron staining in gammopathy-related crystal-storing histiocytosis: a misleading feature to the differential diagnosis with Gaucher's disease. ( 23962646 )
2013
38
Phenotypic variability of prenatally presenting Gaucher's disease. ( 23749476 )
2013
39
Gaucher's disease and cancer: a sphingolipid perspective. ( 23510065 )
2013
40
Vestibular and Saccadic Abnormalities in Gaucher's Disease. ( 24142279 )
2013
41
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. ( 24575292 )
2013
42
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease. ( 23783781 )
2013
43
Middle-ear involvement in type I Gaucher's disease - a unique case. ( 24300021 )
2013
44
B cell lymphoma and myeloma in murine Gaucher's disease. ( 23775597 )
2013
45
Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. ( 22718272 )
2013
46
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. ( 23225227 )
2013
47
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. ( 23118351 )
2013
48
Haemorrhagic pericardial effusion in type I Gaucher's disease. ( 24974496 )
2013
49
A case of unusual association of Gaucher's disease with spinal tuberculosis. ( 23981762 )
2013
50
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. ( 22772462 )
2012

Variations for Gaucher's Disease

ClinVar genetic disease variations for Gaucher's Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Pathogenic/Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
2 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
3 GBA NM_000157.3(GBA): c.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh37 Chromosome 1, 155210442: 155210443
4 GBA NM_000157.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
5 GBA NM_000157.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 GRCh37 Chromosome 1, 155208421: 155208421
6 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
7 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595
8 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
9 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
10 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
11 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
12 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
13 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
14 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
15 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
16 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
17 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
18 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
19 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
20 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387

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 KEGG:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Sphingolipid metabolism hsa00600
3 Lysosome hsa04142

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.54 ACP5 ARSA CHIT1 GBA GBA2 GBA3
2
Show member pathways
11.5 ARSA GBA GBA2 GBA3 PSAP UGCG
3 11.44 ACP5 ARSA GBA PSAP SCARB2
4 10.41 GBA GBA2

GO Terms for Gaucher's Disease

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal lumen GO:0043202 9.26 ARSA GBA PSAP SCARB2
2 lysosome GO:0005764 9.1 ACP5 ARSA CHIT1 GBA PSAP SCARB2

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.77 ARSA CHIT1 GBA GBA2 PKLR
2 lipid metabolic process GO:0006629 9.76 GBA GBA2 PSAP UGCG
3 response to estrogen GO:0043627 9.5 ARSA BGLAP GBA
4 response to testosterone GO:0033574 9.43 BGLAP GBA
5 response to pH GO:0009268 9.4 ARSA GBA
6 glycoside catabolic process GO:0016139 9.26 GBA2 GBA3
7 sphingolipid metabolic process GO:0006665 9.26 GBA GBA2 PSAP UGCG
8 glucosylceramide catabolic process GO:0006680 9.16 GBA GBA2
9 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:

# 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 9.32 CHIT1 GBA2
3 beta-galactosidase activity GO:0004565 9.16 GBA3 PSAP
4 beta-glucosidase activity GO:0008422 8.96 GBA2 GBA3
5 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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