GD
MCID: GCH001
MIFTS: 63

Gaucher's Disease (GD)

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

Aliases & Classifications for Gaucher's Disease

MalaCards integrated aliases for Gaucher's Disease:

Name: Gaucher's Disease 12 25 15
Gaucher Disease 12 75 24 53 25 54 59 44 15 72
Glucocerebrosidase Deficiency 24 25 59
Glucosylceramidase Deficiency 24 53 25
Kerasin Thesaurismosis 12 53 25
Glucosylceramide Beta-Glucosidase Deficiency 12 25
Acid Beta-Glucosidase Deficiency 12 59
Acute Cerebral Gaucher Disease 53 72
Cerebroside Lipidosis Syndrome 53 25
Glucosyl Cerebroside Lipidosis 53 25
Lipoid Histiocytosis 25 72
Gaucher Splenomegaly 53 25
Glucocerebrosidosis 53 25
Kerasin Lipoidosis 53 25
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 25
Gaucher Disease, Type 1 72
Gaucher Disease, Type 2 72
Kerasin Histiocytosis 25
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;

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1926
MeSH 44 D005776
NCIt 50 C61268
SNOMED-CT 68 2859005 62201009
ICD10 33 E75.22
MESH via Orphanet 45 D005776
ICD10 via Orphanet 34 E75.2
UMLS via Orphanet 73 C0017205
Orphanet 59 ORPHA355
UMLS 72 C0017205 C0268250 C0334123 more

Summaries for Gaucher's Disease

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. Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2. The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth. Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

MalaCards based summary : Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type ii and gaucher disease, type iii, and has symptoms including seizures, dyspnea and apnea. 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 Miglustat and Sofosbuvir have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and spleen, and related phenotypes are joint dislocation and osteoarthritis

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.

NIH Rare Diseases : 53 Gaucher disease refers to a group of inherited metabolic 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).

Wikipedia : 75 Gaucher's disease or Gaucher disease (/go?'?e?/) (GD) is a genetic disorder in which glucocerebroside (a... 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 top 50) (show all 809)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type ii 34.1 PSAP GBA
2 gaucher disease, type iii 33.5 PSAP GBA
3 splenomegaly 31.5 GBA CHIT1
4 gaucher disease, type i 31.4 THBS3 SCARB2 PSAP PKLR GBA CHIT1
5 niemann-pick disease 31.0 PSAP GBA CHIT1
6 chitotriosidase deficiency 30.8 GBA CHIT1
7 krabbe disease 30.5 PSAP CHIT1 ARSA
8 lipid storage disease 30.4 PSAP GBA ARSA
9 sphingolipidosis 30.3 SCARB2 PSAP GBA ARSA
10 tremor 30.2 SNCA PRKN GBA
11 dysautonomia 30.2 SNCA GBA
12 movement disease 29.8 SNCA PRKN GBA
13 dementia, lewy body 29.8 SNCA PRKN GRN GBA
14 nervous system disease 29.1 SNCA PRKN ACE
15 gaucher disease - ophthalmoplegia - cardiovascular calcification 12.4
16 gaucher disease, perinatal lethal 12.1
17 gaucher disease, atypical, due to saposin c deficiency 12.0
18 gardner-diamond syndrome 11.9
19 46 xy gonadal dysgenesis 11.5
20 lipid metabolism disorder 11.5
21 sea-blue histiocyte disease 11.5
22 46,xx sex reversal 1 11.2
23 pseudo-gaucher disease 11.2
24 autoimmune thyroid disease 2 11.2
25 herpes simplex 10.7
26 thrombocytopenia 10.6
27 hypersplenism 10.6
28 lysosomal storage disease 10.6
29 hereditary late-onset parkinson disease 10.5 SNCA GBA
30 myeloma, multiple 10.4
31 bone disease 10.4
32 osteonecrosis 10.4
33 avascular necrosis 10.4
34 pulmonary hypertension 10.4
35 autosomal recessive disease 10.4
36 osteomyelitis 10.4
37 adenoma 10.3
38 portal hypertension 10.3
39 nephrogenic systemic fibrosis 10.3
40 hand, foot and mouth disease 10.3 SCARB2 GBA
41 metachromatic leukodystrophy, juvenile form 10.3 PSAP ARSA
42 pancytopenia 10.3
43 metachromatic leukodystrophy, late infantile form 10.3 PSAP ARSA
44 fabry disease 10.3
45 metachromatic leukodystrophy, adult form 10.3 PSAP ARSA
46 glucosephosphate dehydrogenase deficiency 10.3
47 deficiency anemia 10.3
48 apraxia 10.3
49 oculomotor apraxia 10.3
50 genital herpes 10.3

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 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 59 Frequent (79-30%)
2 osteoarthritis 59 Occasional (29-5%)
3 hydrocephalus 59 Occasional (29-5%)
4 depressivity 59 Frequent (79-30%)
5 osteopenia 59 Frequent (79-30%)
6 ataxia 59 Frequent (79-30%)
7 muscular hypotonia 59 Occasional (29-5%)
8 tremor 59 Occasional (29-5%)
9 dysphagia 59 Frequent (79-30%)
10 respiratory insufficiency 59 Occasional (29-5%)
11 developmental regression 59 Frequent (79-30%)
12 hearing impairment 59 Occasional (29-5%)
13 splenomegaly 59 Very frequent (99-80%)
14 hepatomegaly 59 Very frequent (99-80%)
15 delayed skeletal maturation 59 Frequent (79-30%)
16 corneal opacity 59 Occasional (29-5%)
17 aseptic necrosis 59 Frequent (79-30%)
18 joint stiffness 59 Occasional (29-5%)
19 short stature 59 Occasional (29-5%)
20 ichthyosis 59 Occasional (29-5%)
21 feeding difficulties in infancy 59 Frequent (79-30%)
22 proteinuria 59 Occasional (29-5%)
23 retinopathy 59 Occasional (29-5%)
24 delayed puberty 59 Frequent (79-30%)
25 fever 59 Frequent (79-30%)
26 cranial nerve paralysis 59 Occasional (29-5%)
27 fatigue 59 Very frequent (99-80%)
28 pulmonary fibrosis 59 Occasional (29-5%)
29 arthralgia 59 Frequent (79-30%)
30 cherry red spot of the macula 59 Occasional (29-5%)
31 hepatitis 59 Occasional (29-5%)
32 abnormality of movement 59 Frequent (79-30%)
33 anemia 59 Very frequent (99-80%)
34 pancytopenia 59 Occasional (29-5%)
35 abnormal bleeding 59 Occasional (29-5%)
36 abdominal pain 59 Frequent (79-30%)
37 pulmonary arterial hypertension 59 Occasional (29-5%)
38 generalized myoclonic seizures 59 Frequent (79-30%)
39 hemiplegia/hemiparesis 59 Occasional (29-5%)
40 abnormal heart valve morphology 59 Occasional (29-5%)
41 strabismus 59 Frequent (79-30%)
42 death in infancy 59 Occasional (29-5%)
43 gingival bleeding 59 Occasional (29-5%)
44 hematuria 59 Occasional (29-5%)
45 abnormality of skin pigmentation 59 Occasional (29-5%)
46 cirrhosis 59 Occasional (29-5%)
47 abnormal myocardium morphology 59 Occasional (29-5%)
48 abnormal pericardium morphology 59 Occasional (29-5%)
49 osteomyelitis 59 Occasional (29-5%)
50 osteolysis 59 Occasional (29-5%)

UMLS symptoms related to Gaucher's Disease:


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

MGI Mouse Phenotypes related to Gaucher's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.65 ACE ARSA GBA GBA2 GRN PKLR
2 immune system MP:0005387 9.28 ACE ARSA CHIT1 GBA GRN 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 111)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Miglustat Approved Phase 4 72599-27-0 51634
2
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
3
Ledipasvir Approved Phase 4 1256388-51-8 67505836
4
Liraglutide Approved Phase 4 204656-20-2 44147092
5
Glucagon Approved Phase 4 16941-32-5
6
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
7
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
8
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
9
1-Deoxynojirimycin Investigational Phase 4 19130-96-2 1374
10 Glycoside Hydrolase Inhibitors Phase 4
11 Cardiac Glycosides Phase 4
12 Anti-Infective Agents Phase 4
13 Anti-HIV Agents Phase 4
14 Antiviral Agents Phase 4
15 Anti-Retroviral Agents Phase 4
16 Hepatitis C Antibodies Phase 4
17 Ledipasvir, sofosbuvir drug combination Phase 4
18 Micronutrients Phase 4
19 Trace Elements Phase 4
20 Nutrients Phase 4
21 Vitamins Phase 4
22 Calciferol Phase 4
23 Calcium, Dietary Phase 4
24 Bone Density Conservation Agents Phase 4
25 Ergocalciferols Phase 4
26 Vitamin D2 Phase 4
27 Hypoglycemic Agents Phase 4
28 Hormones Phase 4
29 Antibodies Phase 4
30 Immunoglobulins Phase 4
31 Glucagon-Like Peptide 1 Phase 4
32 Hormone Antagonists Phase 4
33 Incretins Phase 4
34 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
35
tannic acid Approved Phase 3 1401-55-4
36
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
37
Ambrisentan Approved, Investigational Phase 3 177036-94-1 6918493
38
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
39
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
40
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
41
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
42
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
43
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
44
Atorvastatin Approved Phase 3 134523-00-5 60823
45
Eliglustat Approved Phase 3 491833-29-5 23652731
46
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
47 Antihypertensive Agents Phase 3
48 Prednisolone acetate Phase 2, Phase 3
49 Methylprednisolone Acetate Phase 2, Phase 3
50 Antilymphocyte Serum Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 123)
# Name Status NCT ID Phase Drugs
1 A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
2 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)
3 A Multicenter, Double-blind, Randomized Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
4 A MULTICENTER, OPEN LABEL, PHARMACOKINETICS, PHARMACODYNAMICS AND SAFETY STUDY OF ELELYSO(TM) (TALIGLUCERASE ALFA) IN PEDIATRIC SUBJECTS WITH TYPE 1 GAUCHER DISEASE Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
5 Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher Disease Recruiting NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
6 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease: An Investigator-initiated Study Recruiting NCT03702361 Phase 4 VPRIV
7 Synergistic Enteral Regimen for Treatment of the Gangliosidoses (Syner-G) Recruiting NCT02030015 Phase 4 miglustat
8 An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment With Velaglucerase Alfa on Bone-related Pathology in Treatment-naïve Patients With Type 1 Gaucher Disease Active, not recruiting NCT02574286 Phase 4 Velaglucerase alfa
9 Reduction of Antigen-Lipid-Driven Monoclonal Gammopathies by Targeting Epicardial Fat and Its Lipids Content With Liraglutide: A Glucagon Like Peptide-1 Receptor Analogue (GLP-1RA) Not yet recruiting NCT02920190 Phase 4 Liraglutide
10 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Not yet recruiting NCT04002830 Phase 4 Elelyso
11 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
12 A Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Once Daily Versus Twice Daily Dosing of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 Completed NCT01074944 Phase 3 Eliglustat tartrate
13 An Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
14 Open-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 Miglustat
15 A Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Completed NCT00430625 Phase 3
16 A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared With Imiglucerase in Patients With Type I Gaucher Disease Completed NCT00553631 Phase 3
17 A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
18 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
19 A Multicenter, Open-Label Phase III Study to Evaluate the Safety and Efficacy of ISU302 (Imiglucerase for Injection) in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
20 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
21 A Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
22 A Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
23 A Multicenter Open-Label Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
24 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
25 A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase in Patients With Gaucher Disease Treated With Imiglucerase Completed NCT00712348 Phase 3 Taliglucerase alfa
26 A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Completed NCT00705939 Phase 3 Taliglucerase alfa
27 A Phase III, Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
28 ARIES-3: A Phase 3, Long-Term, Open-Label, Multicenter Safety and Efficacy Study of Ambrisentan in Subjects With Pulmonary Hypertension Completed NCT00380068 Phase 3 Ambrisentan
29 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
30 Open Label, Two Cohort (With and Without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients With Gaucher Disease Type 1 and Type 3 Recruiting NCT03485677 Phase 3 Eliglustat GZ385660;Imiglucerase GZ437843
31 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
32 Open Label Interventional Multicenter Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Successfully Completed the Phase 2 or Phase 3 Studies Enrolling by invitation NCT02536755 Phase 3 eliglustat GZ385660
33 A Multi-national Randomized Double Blinded Phase III Study to Evaluate the Safety and Efficacy of ISU302(Imiglucerase for Injection) or Cerezyme in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
34 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
35 Study of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher Disease Unknown status NCT01951989 Phase 2 Imiglucérase (drug) pharmacokinetics
36 A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
37 A Randomized, Open-label Study to Assess the Safety and Tolerability of Multiple Dose Levels and Multiple Dosing Regimens of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 Afegostat tartrate
38 An Open-Label Extension of Study TKT025 Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A Enzyme Replacement Therapy Completed NCT00391625 Phase 1, Phase 2 GA-GCB
39 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
40 Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
41 A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
42 A Phase 2a, Open-Label, Sequential Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (Plant Recombinant Human Glucocerebrosidase) in Enzyme Replacement Therapy-Naïve Subjects With Gaucher Disease Completed NCT02107846 Phase 2 PRX-112
43 A Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher Disease Completed NCT00446550 Phase 2 afegostat tartrate
44 An Open-Label, Multicenter, Long-Term Extension Study To Assess The Safety, Efficacy, And Pharmacodynamics Of AT2101 In Adult Patients With Type 1 Gaucher Disease Completed NCT00813865 Phase 2 afegostat tartrate
45 A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
46 A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
47 Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 Recruiting NCT03746587 Phase 2 Arimoclomol;Placebo oral capsule
48 A 52-week Two-part, Open-label, Multicenter, Multinational Study of the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Exploratory Efficacy of GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
49 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications Recruiting NCT02583672 Phase 2 N-acetylcysteine
50 Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy Recruiting NCT03950050 Phase 2 Ambroxol

Search NIH Clinical Center for Gaucher's Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


alglucerase
eliglustat
imiglucerase
taliglucerase alfa
velaglucerase alfa

Cochrane evidence based reviews: gaucher disease

Genetic Tests for Gaucher's Disease

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

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

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 4676)
# Title Authors PMID Year
1
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. 38 4 71
19286695 2009
2
Non-neuronopathic Gaucher disease due to saposin C deficiency. 38 4 71
17919309 2007
3
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. 38 4 71
18022370 2007
4
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 38 4 71
15214004 2004
5
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 38 4 71
15146461 2004
6
Perinatal-lethal Gaucher disease. 38 4 71
12838552 2003
7
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 38 4 71
12595585 2003
8
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. 38 4 71
11148530 2001
9
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 38 4 71
10796875 2000
10
Type 2 Gaucher disease: the collodion baby phenotype revisited. 38 4 71
10685993 2000
11
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 38 4 71
10649495 2000
12
Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. 38 4 71
1971142 1990
13
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disorders. 38 71
22713811 2013
14
Gaucher disease: frequency of the N370S mutation in the Greek population. 38 71
20662857 2010
15
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 38 71
19888064 2009
16
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 38 71
18586596 2008
17
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. 38 71
15856305 2005
18
Homozygosity for a non-pseudogene complex glucocerebrosidase allele as cause of an atypical neuronopathic form of Gaucher disease. 38 71
15690354 2005
19
Novel mutation, L371V, causing multigenerational Gaucher disease in a Lebanese family. 38 71
14994233 2004
20
Gaucher disease: in vivo evidence for allele dose leading to neuronopathic and nonneuronopathic phenotypes. 38 71
12476451 2003
21
The E326K mutation and Gaucher disease: mutation or polymorphism? 38 71
11903352 2002
22
Gaucher Disease 38 71
20301446 2000
23
Gaucher disease with oculomotor apraxia and cardiovascular calcification (Gaucher type IIIC). 38 71
10636167 2000
24
Type 1 Gaucher disease presenting with extensive mandibular lytic lesions: identification and expression of a novel acid beta-glucosidase mutation. 38 71
10340647 1999
25
Non-pseudogene-derived complex acid beta-glucosidase mutations causing mild type 1 and severe type 2 gaucher disease. 38 71
10079102 1999
26
A novel mutation of the beta-glucocerebrosidase gene associated with neurologic manifestations in three sibs. 38 71
9650766 1998
27
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosome. 38 71
9554746 1998
28
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient. 38 71
9295080 1997
29
The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease. 38 71
8929950 1996
30
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 38 71
8829654 1996
31
Glucocerebrosidase (Gaucher disease). 38 71
8889578 1996
32
Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. 38 71
7475546 1995
33
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 38 71
8544197 1995
34
Characteristics of gene mutations among 32 unrelated Japanese Gaucher disease patients: absence of the common Jewish 84GG and 1226G mutations. 38 71
7789963 1995
35
Gaucher disease in Spanish patients: analysis of eight mutations. 38 71
7627184 1995
36
Glucocerebrosidase mutations in Gaucher disease. 38 71
8790604 1994
37
Homozygous presence of the crossover (fusion gene) mutation identified in a type II Gaucher disease fetus: is this analogous to the Gaucher knock-out mouse model? 38 71
7857677 1994
38
Mutations causing Gaucher disease. 38 71
8118460 1994
39
Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. 38 71
8370580 1993
40
Gaucher disease as a paradigm of current issues regarding single gene mutations of humans. 38 71
8516282 1993
41
Gaucher's disease in the United Kingdom: screening non-Jewish patients for the two common mutations. 38 71
8487270 1993
42
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease. 38 71
8450045 1993
43
Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. 38 71
8460394 1993
44
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. 38 71
1437405 1992
45
Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. 38 71
1333717 1992
46
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. 38 71
1415223 1992
47
Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. 38 71
1594045 1992
48
Gaucher disease: new molecular approaches to diagnosis and treatment. 38 71
1589760 1992
49
Genetic diagnosis of Gaucher's disease. 38 71
1348297 1992
50
Mutations in Jewish patients with Gaucher disease. 38 71
1558964 1992

Variations for Gaucher's Disease

ClinVar genetic disease variations for Gaucher's Disease:

6 (show all 43)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_001005741.3(GBA): c.1029del (p.Lys342_Tyr343insTer) deletion Pathogenic rs1553217314 1:155206231-155206231 1:155236440-155236440
2 GBA NM_001005741.3(GBA): c.630del (p.Val211fs) deletion Pathogenic rs1553217879 1:155208056-155208056 1:155238265-155238265
3 GBA NM_001005741.3(GBA): c.1312G> A (p.Asp438Asn) single nucleotide variant Pathogenic rs1553217009 1:155205548-155205548 1:155235757-155235757
4 GBA NM_001005741.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 1:155208420-155208420 1:155238629-155238629
5 GBA NM_001005741.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 1:155204987-155204987 1:155235196-155235196
6 GBA NM_001005741.3(GBA): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 1:155209730-155209730 1:155239939-155239939
7 GBA NM_001005741.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 1:155207932-155207932 1:155238141-155238141
8 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 1:155210452-155210452 1:155240661-155240661
9 GBA NM_001005741.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 1:155204793-155204793 1:155235002-155235002
10 GBA NM_001005741.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 1:155205614-155205614 1:155235823-155235823
11 GBA NM_001005741.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 1:155207244-155207244 1:155237453-155237453
12 GBA NM_001005741.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 1:155208387-155208387 1:155238596-155238596
13 GBA NM_001005741.3(GBA): c.93_94insG (p.Gln32fs) insertion Pathogenic rs80356760 1:155210442-155210443 1:155240651-155240652
14 GBA NM_001005741.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 1:155207983-155207983 1:155238192-155238192
15 GBA NM_001005741.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 1:155205634-155205634 1:155235843-155235843
16 GBA NM_001005741.3(GBA): c.1265_1319del (p.Leu422fs) deletion Pathogenic rs80356768 1:155205541-155205595 1:155235750-155235804
17 GBA NM_001005741.3(GBA): c.709A> G (p.Lys237Glu) single nucleotide variant Pathogenic 1:155207977-155207977 1:155238186-155238186
18 GBA NM_001005741.3(GBA): c.1357C> T (p.Gln453Ter) single nucleotide variant Pathogenic 1:155205503-155205503 1:155235712-155235712
19 GBA NM_001005741.3(GBA): c.653G> A (p.Trp218Ter) single nucleotide variant Pathogenic 1:155208033-155208033 1:155238242-155238242
20 GBA NM_001005741.3(GBA): c.595_596del (p.Leu199fs) deletion Pathogenic 1:155208090-155208091 1:155238299-155238300
21 GBA NM_001005741.3(GBA): c.259C> T (p.Arg87Trp) single nucleotide variant Pathogenic rs1141814 1:155209725-155209725 1:155239934-155239934
22 GBA NM_001005741.3(GBA): c.762-1G> C single nucleotide variant Pathogenic 1:155207370-155207370 1:155237579-155237579
23 GBA NM_001005741.3(GBA): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs409652 1:155207965-155207965 1:155238174-155238174
24 GBA NM_001005741.3(GBA): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic rs398123532 1:155208061-155208061 1:155238270-155238270
25 GBA NM_001005741.3(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 1:155210420-155210420 1:155240629-155240629
26 GBA NM_001005741.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 1:155208421-155208421 1:155238630-155238630
27 GBA NM_001005741.3(GBA): c.1448T> G (p.Leu483Arg) single nucleotide variant Pathogenic/Likely pathogenic rs421016 1:155205043-155205043 1:155235252-155235252
28 GBA NM_001005741.3(GBA): c.1171G> C (p.Val391Leu) single nucleotide variant Pathogenic/Likely pathogenic rs398123527 1:155206089-155206089 1:155236298-155236298
29 GBA NM_001005741.3(GBA): c.667T> C (p.Trp223Arg) single nucleotide variant Pathogenic/Likely pathogenic rs61748906 1:155208019-155208019 1:155238228-155238228
30 GBA NM_001005741.3(GBA): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121908309 1:155206068-155206068 1:155236277-155236277
31 GBA NM_001005741.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Pathogenic/Likely pathogenic rs80356772 1:155204986-155204986 1:155235195-155235195
32 GBA NM_001005741.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 1:155208006-155208006 1:155238215-155238215
33 GBA NM_001005741.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 1:155205043-155205043 1:155235252-155235252
34 GBA NM_001005741.3(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 1:155205563-155205563 1:155235772-155235772
35 GBA NM_001005741.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 1:155205518-155205518 1:155235727-155235727
36 GBA NM_001005741.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 1:155205517-155205517 1:155235726-155235726
37 GBA NM_001005741.3(GBA): c.1052G> C (p.Trp351Ser) single nucleotide variant Likely pathogenic rs1553217294 1:155206208-155206208 1:155236417-155236417
38 GBA NM_001005741.3(GBA): c.1279G> T (p.Glu427Ter) single nucleotide variant Likely pathogenic rs149171124 1:155205581-155205581 1:155235790-155235790
39 GBA NM_001005741.3(GBA): c.497A> T (p.Asp166Val) single nucleotide variant Likely pathogenic 1:155208399-155208399 1:155238608-155238608
40 GBA NM_001005741.3(GBA): c.1250G> A (p.Trp417Ter) single nucleotide variant Likely pathogenic 1:155205610-155205610 1:155235819-155235819
41 GBA NM_001005741.3(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs76763715 1:155205634-155205634 1:155235843-155235843
42 GBA NM_001005741.3(GBA): c.535G> C (p.Asp179His) single nucleotide variant Conflicting interpretations of pathogenicity rs147138516 1:155208361-155208361 1:155238570-155238570
43 GBA NM_001005741.3(GBA): c.474C> T (p.Ile158=) single nucleotide variant Uncertain significance rs147411159 1:155208422-155208422 1:155238631-155238631

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.66 PSAP GBA2 GBA ARSA
2 11.11 SCARB2 PSAP GBA ARSA ACP5
3 10.76 SNCA PRKN
4 10.41 GBA2 GBA

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 extracellular exosome GO:0070062 9.8 SCARB2 PSAP PKLR GRN GBA ARSA
2 extracellular space GO:0005615 9.7 SNCA PSAP GRN GBA CHIT1 ARSA
3 lysosome GO:0005764 9.28 SNCA SCARB2 PSAP GRN GBA CHIT1
4 lysosomal lumen GO:0043202 9.26 SCARB2 PSAP GBA ARSA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.84 PSAP GRN CHIT1 ARSA
2 metabolic process GO:0008152 9.62 PKLR GBA2 GBA CHIT1
3 negative regulation of neuron death GO:1901215 9.54 SNCA PRKN GBA
4 regulation of dopamine secretion GO:0014059 9.52 SNCA PRKN
5 regulation of reactive oxygen species metabolic process GO:2000377 9.51 SNCA PRKN
6 regulation of neurotransmitter secretion GO:0046928 9.49 SNCA PRKN
7 synaptic transmission, dopaminergic GO:0001963 9.48 SNCA PRKN
8 dopamine metabolic process GO:0042417 9.46 SNCA PRKN
9 cellular response to epinephrine stimulus GO:0071872 9.43 SNCA PKLR
10 response to pH GO:0009268 9.4 GBA ARSA
11 sphingolipid metabolic process GO:0006665 9.33 PSAP GBA2 GBA
12 dopamine uptake involved in synaptic transmission GO:0051583 9.26 SNCA PRKN
13 glycosphingolipid metabolic process GO:0006687 9.13 PSAP GBA2 ARSA
14 glucosylceramide catabolic process GO:0006680 8.62 GBA2 GBA

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

# Name GO ID Score Top Affiliating Genes
1 ferrous iron binding GO:0008198 9.32 SNCA ACP5
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 GBA2 CHIT1
3 phospholipase binding GO:0043274 9.16 SNCA PRKN
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 GBA2 GBA CHIT1
5 glucosylceramidase activity GO:0004348 8.62 GBA2 GBA

Sources for Gaucher's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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