MCID: GCH001
MIFTS: 62

Gaucher's Disease

Categories: Rare diseases, Eye diseases, Metabolic diseases, Genetic 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 15
Gaucher Disease 12 76 24 53 25 54 59 37 29 55 6 43 44 73
Glucocerebrosidase Deficiency 24 25 59
Glucosylceramidase Deficiency 24 53 25
Kerasin Thesaurismosis 12 53 25
Lipoid Histiocytosis 12 25 73
Glucosylceramide Beta-Glucosidase Deficiency 12 25
Acid Beta-Glucosidase Deficiency 12 59
Acute Cerebral Gaucher Disease 53 73
Cerebroside Lipidosis Syndrome 53 25
Glucosyl Cerebroside Lipidosis 53 25
Gaucher Splenomegaly 53 25
Glucocerebrosidosis 53 25
Kerasin Lipoidosis 53 25
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 25
Gaucher Disease, Type 1 73
Gaucher Disease, Type 2 73
Kerasin Histiocytosis 25
Gaucher Disease, Type 13
Sphingolipidosis 1 53
Gaucher Syndrome 25
Gauchers Disease 25
Gd 25

Characteristics:

Orphanet epidemiological data:

59
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 : 54 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).  People with Gaucher disease either do not produce enough of the enzyme glucocerebrosidase needed to break down lipids or have enzymes that do not work properly.  Fatty materials can accumulate in the brain and other organs.  General 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: 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.   Type 2 Gaucher disease (acute infantile neuropathic Gaucher disease) symptoms usually begin by 3 months of age and includes 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. Type 3 (or chronic neuropathic Gaucher disease) includes signs of brain involvement, seizures, 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 niemann-pick disease, and has symptoms including apnea, muscle rigidity and muscle spasticity. 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, and related phenotypes are proteinuria and gingival bleeding

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 : 53 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).

MedlinePlus : 43 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 : 76 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside... more...

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:

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
2 gingival bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0000225
3 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
4 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
5 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
6 retinopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000488
7 oculomotor apraxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000657
8 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
9 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
10 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
11 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
12 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
13 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
14 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
15 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
16 joint dislocation 59 32 frequent (33%) Frequent (79-30%) HP:0001373
17 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
18 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
19 abnormal myocardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001637
20 abnormal pericardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001697
21 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
22 hydrops fetalis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001789
23 thrombocytopenia 59 32 frequent (33%) Frequent (79-30%) HP:0001873
24 pancytopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001876
25 anemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001903
26 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
27 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
28 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
29 generalized tonic-clonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002069
30 abnormality of extrapyramidal motor function 59 32 occasional (7.5%) Occasional (29-5%) HP:0002071
31 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
32 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093
33 ventriculomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0002119
34 generalized myoclonic seizures 59 32 frequent (33%) Frequent (79-30%) HP:0002123
35 pulmonary fibrosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002206
36 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
37 developmental regression 59 32 frequent (33%) Frequent (79-30%) HP:0002376
38 bone pain 59 32 frequent (33%) Frequent (79-30%) HP:0002653
39 delayed skeletal maturation 59 32 frequent (33%) Frequent (79-30%) HP:0002750
40 osteomyelitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002754
41 recurrent fractures 59 32 frequent (33%) Frequent (79-30%) HP:0002757
42 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
43 osteolysis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002797
44 arthrogryposis multiplex congenita 59 32 occasional (7.5%) Occasional (29-5%) HP:0002804
45 arthralgia 59 32 frequent (33%) Frequent (79-30%) HP:0002829
46 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
47 hemiplegia/hemiparesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004374
48 aortic valve calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0004380
49 mitral valve calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0004382
50 interstitial pulmonary abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0006530

UMLS symptoms related to Gaucher's Disease:


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

Drugs & Therapeutics for Gaucher's Disease

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

(show top 50) (show all 91)
# 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,Not Applicable
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,Not Applicable 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,Not Applicable 19130-96-2 1374
25 Anti-HIV Agents Phase 3,Phase 2,Not Applicable
26 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
27 Anti-Retroviral Agents Phase 3,Phase 2,Not Applicable
28 Antiviral Agents Phase 3,Phase 2,Phase 1,Not Applicable
29 Cardiac Glycosides Phase 3,Phase 2,Not Applicable
30 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Not Applicable
31 Alkylating Agents Phase 2, Phase 3
32 Antilymphocyte Serum Phase 2, Phase 3
33 Antineoplastic Agents, Alkylating Phase 2, Phase 3
34 Antirheumatic Agents Phase 2, Phase 3
35 Immunosuppressive Agents Phase 2, Phase 3
36 Methylprednisolone acetate Phase 2, Phase 3
37 Methylprednisolone Hemisuccinate Phase 2, Phase 3
38 Prednisolone acetate Phase 2, Phase 3
39 Prednisolone hemisuccinate Phase 2, Phase 3
40 Prednisolone phosphate Phase 2, Phase 3
41
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
42
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
43
Acetylcysteine Approved, Investigational Phase 2,Phase 1 616-91-1 12035
44
alemtuzumab Approved, Investigational Phase 2 216503-57-0
45
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
46
Hydroxyurea Approved Phase 2 127-07-1 3657
47
Melphalan Approved Phase 2 148-82-3 4053 460612
48
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
49
Ambroxol Approved, Investigational Phase 1, Phase 2 18683-91-5
50
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453

Interventional clinical trials:

(show top 50) (show all 100)
# 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 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
12 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
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 Safety and Efficacy of Eliglustat With or Without Imiglucerase in Pediatric Patients With Gaucher Disease (GD) Type 1 and Type 3 Recruiting NCT03485677 Phase 3 Eliglustat GZ385660;Imiglucerase GZ437843
26 Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat GZ385660
27 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
28 Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Unknown status NCT01951989 Phase 2 Imiglucérase (drug) pharmacokinetics
29 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
30 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
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 73 / NDF-RT 51 :


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 29

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

41
Bone, Liver, Spleen, Brain, Bone Marrow, Lung, Kidney

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 1102)
# Title Authors Year
1
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease: Retraction: Erratum. ( 29688991 )
2018
2
Treatment-naA^ve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials. ( 27839979 )
2018
3
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? ( 29945135 )
2018
4
Perinatal Lethal Gaucher Disease due to RecNcil Recombinant Mutation in the <i>GBA</i> Gene Presenting with Hydrops Fetalis and Severe Congenital Anemia. ( 29854527 )
2018
5
Laparoscopic fenestration for a huge symptomatic splenic cyst in a patient with Gaucher's disease. ( 29572599 )
2018
6
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. ( 29979419 )
2018
7
Gaucher disease and I^-thalassemia: A rare coinheritance. ( 28458077 )
2017
8
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease. ( 28060125 )
2017
9
The modulation of inflammatory parameters, Brain-derived neurotrophic factor levels and global histone H4 acetylation status in peripheral blood of patients with Gaucher disease type 1. ( 27865783 )
2017
10
Actual reason for bone fractures in the case of a patient followed-up with the osteogenesis imperfecta: Gaucher's Disease. ( 29354164 )
2017
11
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
12
Torsion of a wandering spleen in an adolescent with Gaucher disease. ( 28699604 )
2017
13
Gaucher's disease in a patient presenting with hip and abdominal pain. ( 29489979 )
2017
14
Identification of a feedback loop involving I^-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease. ( 28258214 )
2017
15
Norrbottnian clinical variant of Gaucher disease in Southern Italy. ( 28003644 )
2017
16
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
17
Saccadic Impairments in Patients with the Norrbottnian Form of Gaucher's Disease Type 3. ( 28690585 )
2017
18
[Progressive pulmonary hypertension in a patient with type 1 Gaucher disease]. ( 29171474 )
2017
19
Niemann-Pick Disease Type C Initially Misdiagnosed as Gaucher Disease in a 6 Year Old Kazakh Girl. ( 28480683 )
2017
20
Involvement of Gaucher Disease Mutations in Parkinson Disease. ( 26965692 )
2017
21
Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/I^-Catenin Downregulation. ( 29198828 )
2017
22
Induced Pluripotent Stem Cell Modeling of Gaucher's Disease: What Have We Learned? ( 28430167 )
2017
23
Successful newborn screening for Gaucher disease using fluorometric assay in China. ( 28356566 )
2017
24
Case report of cholelithiasis in a patient with type 1 Gaucher disease. ( 27915213 )
2016
25
Gaucher Disease Type 2 Presenting with Collodion Membrane and Blueberry Muffin Lesions. ( 26646163 )
2016
26
Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease. ( 27619775 )
2016
27
Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease. ( 27014572 )
2016
28
Assessment of the liver and spleen in children with Gaucher's disease type I with diffusion-weighted MR imaging. ( 28012701 )
2016
29
Hemophagocytic lymphohistiocytosis triggered by Gaucher disease in a preterm neonate. ( 27922757 )
2016
30
Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. ( 27642553 )
2016
31
Gaucher's Disease: A Rare Case, Diagnosed By Fine Needle Aspiration Cytology. ( 27134885 )
2016
32
Gaucher disease in a patient with focal segmental glomerulosclerosis. ( 27900985 )
2016
33
MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease. ( 27802905 )
2016
34
Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants. ( 27981300 )
2016
35
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. ( 27482815 )
2016
36
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
37
Impaired gait kinematics in type 1 Gaucher's Disease. ( 26756743 )
2016
38
A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease. ( 27098793 )
2016
39
Association Between Progranulin and Gaucher Disease. ( 27515686 )
2016
40
Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland. ( 26589705 )
2016
41
Role of Nanotechnology for Enzyme Replacement Therapy in Lysosomal Diseases. A Focus on Gaucher's Disease. ( 26860997 )
2016
42
Macrophage-derived soluble CD163 level in young patients with Gaucher disease: relation to phenotypes, disease severity and complications. ( 25587690 )
2015
43
Variants associated with Gaucher disease in multiple system atrophy. ( 25909086 )
2015
44
Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patients. ( 26379319 )
2015
45
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
46
Oculomotor apraxia in Gaucher disease. ( 25687160 )
2015
47
Pleural tuberculosis in a patient with untreated type 1 Gaucher disease. ( 26459658 )
2015
48
Perinatal-lethal Gaucher disease presenting as hydrops fetalis. ( 26327947 )
2015
49
A NOVEL ASPARTYLGLUCOSAMINURIA MUTATION IN A PATIENT WITH CO-EXISTENCE OF GAUCHER DISEASE. ( 26852520 )
2015
50
Effect of oral eliglustat on splenomegaly in patients with Gaucher disease type 1: the ENGAGE randomized clinical trial. ( 25688781 )
2015

Variations for Gaucher's Disease

ClinVar genetic disease variations for Gaucher's Disease:

6
(show top 50) (show all 62)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh38 Chromosome 1, 155235252: 155235252
3 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
4 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
5 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
6 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh38 Chromosome 1, 155238629: 155238629
7 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
8 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh38 Chromosome 1, 155235772: 155235772
9 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
10 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727
11 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
12 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 GRCh38 Chromosome 1, 155235726: 155235726
13 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
14 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh38 Chromosome 1, 155235196: 155235196
15 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Likely pathogenic rs147138516 GRCh37 Chromosome 1, 155208361: 155208361
16 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Likely pathogenic rs147138516 GRCh38 Chromosome 1, 155238570: 155238570
17 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
18 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh38 Chromosome 1, 155238141: 155238141
19 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh37 Chromosome 1, 155210452: 155210452
20 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh38 Chromosome 1, 155240661: 155240661
21 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
22 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh38 Chromosome 1, 155235002: 155235002
23 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
24 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh38 Chromosome 1, 155238215: 155238215
25 GBA NM_001005741.2(GBA): c.259C> T (p.Arg87Trp) single nucleotide variant Pathogenic rs1141814 GRCh37 Chromosome 1, 155209725: 155209725
26 GBA NM_001005741.2(GBA): c.259C> T (p.Arg87Trp) single nucleotide variant Pathogenic rs1141814 GRCh38 Chromosome 1, 155239934: 155239934
27 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
28 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh38 Chromosome 1, 155235823: 155235823
29 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
30 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh38 Chromosome 1, 155237453: 155237453
31 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387
32 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh38 Chromosome 1, 155238596: 155238596
33 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
34 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Likely pathogenic rs80356772 GRCh38 Chromosome 1, 155235195: 155235195
35 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
36 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh38 Chromosome 1, 155238192: 155238192
37 GBA NM_000157.3(GBA): c.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh37 Chromosome 1, 155210442: 155210443
38 GBA NM_000157.3(GBA): c.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh38 Chromosome 1, 155240651: 155240652
39 GBA NM_000157.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
40 GBA NM_000157.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
41 GBA NM_000157.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 GRCh37 Chromosome 1, 155208421: 155208421
42 GBA NM_000157.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 GRCh38 Chromosome 1, 155238630: 155238630
43 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
44 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh38 Chromosome 1, 155240629: 155240629
45 GBA NM_001005741.2(GBA): c.667T> C (p.Trp223Arg) single nucleotide variant Pathogenic rs61748906 GRCh37 Chromosome 1, 155208019: 155208019
46 GBA NM_001005741.2(GBA): c.667T> C (p.Trp223Arg) single nucleotide variant Pathogenic rs61748906 GRCh38 Chromosome 1, 155238228: 155238228
47 GBA NM_001005741.2(GBA): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs409652 GRCh37 Chromosome 1, 155207965: 155207965
48 GBA NM_001005741.2(GBA): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs409652 GRCh38 Chromosome 1, 155238174: 155238174
49 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595
50 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh38 Chromosome 1, 155235750: 155235804

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:

37
# 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 lipid metabolic process GO:0006629 9.76 GBA GBA2 PSAP UGCG
2 metabolic process GO:0008152 9.72 ARSA CHIT1 GBA GBA2 PKLR
3 response to estrogen GO:0043627 9.54 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-glucosidase activity GO:0008422 9.16 GBA2 GBA3
4 beta-galactosidase activity GO:0004565 8.96 GBA3 PSAP
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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