MCID: GCH001
MIFTS: 66

Gaucher's Disease

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 26 15
Gaucher Disease 12 77 25 54 26 55 60 38 30 56 6 44 45 15 74
Glucocerebrosidase Deficiency 25 26 60
Glucosylceramidase Deficiency 25 54 26
Kerasin Thesaurismosis 12 54 26
Glucosylceramide Beta-Glucosidase Deficiency 12 26
Acid Beta-Glucosidase Deficiency 12 60
Acute Cerebral Gaucher Disease 54 74
Cerebroside Lipidosis Syndrome 54 26
Glucosyl Cerebroside Lipidosis 54 26
Lipoid Histiocytosis 26 74
Gaucher Splenomegaly 54 26
Glucocerebrosidosis 54 26
Kerasin Lipoidosis 54 26
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 26
Gaucher Disease, Type 1 74
Gaucher Disease, Type 2 74
Kerasin Histiocytosis 26
Gaucher Disease, Type 13
Sphingolipidosis 1 54
Gaucher Syndrome 26
Gauchers Disease 26
Gd 26

Characteristics:

Orphanet epidemiological data:

60
gaucher disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages;

Classifications:

Orphanet: 60  
Inborn errors of metabolism


External Ids:

Disease Ontology 12 DOID:1926
KEGG 38 H00126
MeSH 45 D005776
NCIt 51 C61268
SNOMED-CT 69 2859005 62201009
ICD10 34 E75.22
MESH via Orphanet 46 D005776
ICD10 via Orphanet 35 E75.2
UMLS via Orphanet 75 C0017205
Orphanet 60 ORPHA355

Summaries for Gaucher's Disease

MedlinePlus : 44 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

MalaCards based summary : Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type ii and sphingolipidosis, 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 Other glycan degradation and Sphingolipid metabolism. The drugs Sofosbuvir and Ledipasvir 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 : 54 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).

Wikipedia : 77 Gaucher''s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside... more...

GeneReviews: NBK1269

Related Diseases for Gaucher's Disease

Diseases in the Gaucher's Disease family:

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

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

(show top 50) (show all 394)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type ii 33.6 GBA PSAP
2 sphingolipidosis 32.2 ARSA GBA PSAP SCARB2
3 gaucher disease, type i 31.7 ACP5 CHIT1 GBA PKLR PSAP SCARB2
4 splenomegaly 30.7 CHIT1 GBA
5 niemann-pick disease 30.5 CHIT1 GBA PSAP
6 chitotriosidase deficiency 30.4 CHIT1 GBA
7 krabbe disease 30.1 ARSA CHIT1 PSAP
8 dementia, lewy body 29.9 GBA GRN PRKN SNCA
9 lipid storage disease 29.8 ARSA GBA PSAP
10 nervous system disease 29.2 ACE PRKN SNCA
11 dementia 28.9 ARSA GBA GRN PRKN SNCA
12 pseudo-gaucher disease 12.3
13 gaucher disease - ophthalmoplegia - cardiovascular calcification 12.3
14 gaucher disease, type iii 12.1
15 gaucher disease, perinatal lethal 12.0
16 gaucher disease, atypical, due to saposin c deficiency 11.9
17 gardner-diamond syndrome 11.8
18 glycogen storage disease iii 11.1
19 46,xx sex reversal 1 11.1
20 autoimmune thyroid disease 2 11.0
21 grover's disease 11.0
22 ocular motor apraxia 11.0
23 sea-blue histiocyte disease 11.0
24 lipid metabolism disorder 11.0
25 horns in sheep 10.6
26 herpes simplex 10.6
27 blood group, gerbich system 10.4
28 bone disease 10.3
29 hereditary late-onset parkinson disease 10.3 GBA SNCA
30 myeloma, multiple 10.3
31 pulmonary hypertension 10.3
32 leukemia 10.3
33 osteomyelitis 10.2
34 dysautonomia 10.2 GBA SNCA
35 metachromatic leukodystrophy, late infantile form 10.2 ARSA PSAP
36 metachromatic leukodystrophy, juvenile form 10.2 ARSA PSAP
37 thrombocytopenia 10.2
38 lymphoma 10.2
39 ichthyosis 10.2
40 graves' disease 10.2
41 hand, foot and mouth disease 10.2 GBA SCARB2
42 metachromatic leukodystrophy, adult form 10.2 ARSA PSAP
43 nonalcoholic steatohepatitis 10.2
44 hematopoietic stem cell transplantation 10.2
45 myoclonus 10.2
46 lymphocytic leukemia 10.1
47 inclusion-cell disease 10.1 ARSA PSAP
48 congenital nonspherocytic hemolytic anemia 10.1
49 adenoma 10.1
50 parkinson disease 10 10.1 PRKN SNCA

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:

60 (show top 50) (show all 68)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint dislocation 60 Frequent (79-30%)
2 osteoarthritis 60 Occasional (29-5%)
3 hydrocephalus 60 Occasional (29-5%)
4 depressivity 60 Frequent (79-30%)
5 osteopenia 60 Frequent (79-30%)
6 ataxia 60 Frequent (79-30%)
7 muscular hypotonia 60 Occasional (29-5%)
8 tremor 60 Occasional (29-5%)
9 dysphagia 60 Frequent (79-30%)
10 respiratory insufficiency 60 Occasional (29-5%)
11 developmental regression 60 Frequent (79-30%)
12 hearing impairment 60 Occasional (29-5%)
13 splenomegaly 60 Very frequent (99-80%)
14 hepatomegaly 60 Very frequent (99-80%)
15 delayed skeletal maturation 60 Frequent (79-30%)
16 corneal opacity 60 Occasional (29-5%)
17 aseptic necrosis 60 Frequent (79-30%)
18 joint stiffness 60 Occasional (29-5%)
19 short stature 60 Occasional (29-5%)
20 ichthyosis 60 Occasional (29-5%)
21 feeding difficulties in infancy 60 Frequent (79-30%)
22 proteinuria 60 Occasional (29-5%)
23 retinopathy 60 Occasional (29-5%)
24 delayed puberty 60 Frequent (79-30%)
25 fever 60 Frequent (79-30%)
26 cranial nerve paralysis 60 Occasional (29-5%)
27 fatigue 60 Very frequent (99-80%)
28 pulmonary fibrosis 60 Occasional (29-5%)
29 arthralgia 60 Frequent (79-30%)
30 cherry red spot of the macula 60 Occasional (29-5%)
31 hepatitis 60 Occasional (29-5%)
32 abnormality of movement 60 Frequent (79-30%)
33 anemia 60 Very frequent (99-80%)
34 pancytopenia 60 Occasional (29-5%)
35 abnormal bleeding 60 Occasional (29-5%)
36 abdominal pain 60 Frequent (79-30%)
37 pulmonary arterial hypertension 60 Occasional (29-5%)
38 generalized myoclonic seizures 60 Frequent (79-30%)
39 hemiplegia/hemiparesis 60 Occasional (29-5%)
40 abnormality of the heart valves 60 Occasional (29-5%)
41 strabismus 60 Frequent (79-30%)
42 death in infancy 60 Occasional (29-5%)
43 hydrops fetalis 60 Occasional (29-5%)
44 cirrhosis 60 Occasional (29-5%)
45 abnormality of the skeletal system 60 Frequent (79-30%)
46 thrombocytopenia 60 Frequent (79-30%)
47 abnormality of the macula 60 Occasional (29-5%)
48 generalized tonic-clonic seizures 60 Frequent (79-30%)
49 ventriculomegaly 60 Occasional (29-5%)
50 arthrogryposis multiplex congenita 60 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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.81 ACE ARSA GBA GRN PRKN PSAP
2 homeostasis/metabolism MP:0005376 9.7 ACE ARSA GBA GBA2 GRN PKLR
3 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 113)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
2
Ledipasvir Approved Phase 4 1256388-51-8 67505836
3
Liraglutide Approved Phase 4 204656-20-2 44147092
4
Glucagon Approved Phase 4 16941-32-5
5
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
6
Calcium Approved, Nutraceutical Phase 4,Phase 2 7440-70-2 271
7
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
8 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
9 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
10 Calciferol Phase 4,Phase 2
11 Bone Density Conservation Agents Phase 4,Phase 2
12 Vitamins Phase 4,Phase 2
13 Hormones Phase 4,Phase 2
14 Calcium, Dietary Phase 4,Phase 2
15 Nutrients Phase 4,Phase 2
16 Trace Elements Phase 4,Phase 2
17 Micronutrients Phase 4,Phase 2
18 Immunoglobulins Phase 4
19 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
20 Antibodies Phase 4
21 Hepatitis C Antibodies Phase 4
22 Ledipasvir, sofosbuvir drug combination Phase 4
23 Ergocalciferols Phase 4
24 Vitamin D2 Phase 4
25 Hormone Antagonists Phase 4
26 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
27 Glucagon-Like Peptide 1 Phase 4
28 Incretins Phase 4
29
Eliglustat Approved Phase 3,Phase 2,Phase 1,Not Applicable 491833-29-5 23652731
30
Miglustat Approved Phase 3,Phase 2,Not Applicable 72599-27-0 51634
31
tannic acid Approved Phase 3 1401-55-4
32
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
33
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
34
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
35
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
36
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
37
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
38
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
39
1-Deoxynojirimycin Investigational Phase 3,Phase 2,Not Applicable 19130-96-2 1374
40
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
41 Anti-HIV Agents Phase 3,Phase 2,Not Applicable
42 Anti-Retroviral Agents Phase 3,Phase 2,Not Applicable
43 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Not Applicable
44 Cardiac Glycosides Phase 3,Phase 2,Not Applicable
45 Prednisolone acetate Phase 2, Phase 3
46 Antineoplastic Agents, Alkylating Phase 2, Phase 3
47 Methylprednisolone Acetate Phase 2, Phase 3
48 Alkylating Agents Phase 2, Phase 3
49 Immunologic Factors Phase 2, Phase 3
50 Immunosuppressive Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 110)
# 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 Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. Recruiting NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
5 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
6 Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease Recruiting NCT02574286 Phase 4 Velaglucerase alfa
7 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Recruiting NCT03702361 Phase 4 VPRIV
8 Antigen-Lipid-Driven Monoclonal Gammopathies Targeting Epicardial Fat Not yet recruiting NCT02920190 Phase 4 Liraglutide
9 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
10 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
11 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
12 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
13 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
14 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
15 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
16 Clinical Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Miglustat in Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 Miglustat
17 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
18 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
19 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
20 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
21 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
22 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
23 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)
24 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
25 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
26 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
27 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
28 Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat GZ385660
29 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
30 Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Unknown status NCT01951989 Phase 2 Imiglucérase (drug) pharmacokinetics
31 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
32 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
33 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
34 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
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 Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2 afegostat tartrate
37 A Study of AT2101 (Afegostat Tartrate) in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 Afegostat tartrate
38 An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 Completed NCT02107846 Phase 2 PRX-112
39 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 A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients Completed NCT00813865 Phase 2 afegostat tartrate
41 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
42 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
43 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2 N-acetylcysteine
44 Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 Recruiting NCT03746587 Phase 2 Arimoclomol;Placebo oral capsule
45 Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy Recruiting NCT03950050 Phase 2 Ambroxol
46 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
47 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
48 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2 Ambroxol
49 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease Completed NCT01427517 Phase 1 N-acetylcysteine
50 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase

Search NIH Clinical Center for Gaucher's Disease

Inferred drug relations via UMLS 74 / NDF-RT 52 :


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 30

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

42
Bone, Liver, Spleen, Bone Marrow, Brain, Lung, Kidney

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 2854)
# Title Authors Year
1
Liver damage in a patient with Gaucher's disease type 1 and alpha-1 antitrypsin deficiency: a potential epigenetic effect? ( 30851181 )
2019
2
Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case. ( 30094495 )
2019
3
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ( 30382391 )
2019
4
A comparative computational approach toward pharmacological chaperones (NN-DNJ and ambroxol) on N370S and L444P mutations causing Gaucher's disease. ( 30635084 )
2019
5
Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease. ( 30981829 )
2019
6
Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines. ( 30446378 )
2019
7
Three cases of multi-generational Gaucher disease and colon cancer from an Ashkenazi Jewish family: A lesson for cascade screening. ( 30627514 )
2019
8
Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease. ( 29866519 )
2019
9
Differential radiological diagnosis of tuberculous sacroiliitis and bone involvement in Gaucher disease: a clinical case. ( 31090377 )
2019
10
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1. ( 31077260 )
2019
11
Acute Gaucher Disease-Like Condition in an Indian Infant with a Novel Biallelic Mutation in the Prosaposin Gene. ( 31061751 )
2019
12
Ophthalmological findings in Gaucher disease. ( 31047801 )
2019
13
Addendum to Letter to the Editor: Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. ( 31029022 )
2019
14
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches. ( 31010158 )
2019
15
Stereoselective Synthesis of C-2 Alkylated Trihydroxypiperidines: Novel Pharmacological Chaperones for Gaucher Disease. ( 30996807 )
2019
16
Gene expression profile in patients with Gaucher disease indicates activation of inflammatory processes. ( 30988500 )
2019
17
Oxidative Stress Parameters, Trace Elements, and Lipid Profile in Iranian Patients with Gaucher Disease. ( 30977090 )
2019
18
A 30-Year-Old Carrier of Gaucher Disease with Multiple Myeloma. ( 30906609 )
2019
19
Gaucher Disease: An Underdiagnosed Pathology in the Eastern Moroccan Population. ( 30881277 )
2019
20
Production of recombinant human acid β-glucosidase with high mannose-type N-glycans in rice gnt1 mutant for potential treatment of Gaucher disease. ( 30822514 )
2019
21
Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning. ( 30808805 )
2019
22
A Comprehensive Study of Bone Manifestations in Adult Gaucher Disease Type 1 Patients in Argentina. ( 30790003 )
2019
23
Defective Sphingolipids Metabolism and Tumor Associated Macrophages as the Possible Links Between Gaucher Disease and Blood Cancer Development. ( 30781349 )
2019
24
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. ( 30764785 )
2019
25
Splenic Artery Aneurysms, A Rare Complication of Type 1 Gaucher Disease: Report of Five Cases. ( 30744043 )
2019
26
Breastfeeding in patients with Gaucher disease: Is taliglucerase alfa safe? ( 30705823 )
2019
27
Chitotriosidase on treatment-naïve patients with Gaucher disease: A genotype vs phenotype study. ( 30695688 )
2019
28
Population-based cohort of 500 patients with Gaucher disease in Israel. ( 30670517 )
2019
29
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. ( 30632057 )
2019
30
Ophthalmic manifestations of Gaucher disease: the most common lysosomal storage disorder. ( 30612093 )
2019
31
Plasma cell myeloma in a patient with Gaucher disease. ( 30606809 )
2019
32
Gaucher Disease: New Expanded Classification Emphasizing Neurological Features. ( 30598670 )
2019
33
Gaucher disease screening at a general adult hematology tertiary care centre: A prospective study. ( 30512241 )
2019
34
Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1. ( 30481833 )
2019
35
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. ( 30456712 )
2019
36
Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma. ( 30450574 )
2019
37
Bone manifestations in neuronopathic Gaucher disease while receiving high-dose enzyme replacement therapy. ( 30448006 )
2019
38
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative. ( 30414226 )
2019
39
Assessment of Liver and Spleen in Children With Gaucher Disease Type 1 With Chemical Shift Imaging. ( 30407244 )
2019
40
Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study. ( 30298188 )
2019
41
Outcomes after 8 years of eliglustat therapy for Gaucher disease type 1: Final results from the Phase 2 trial. ( 30264864 )
2019
42
Intra-monocyte Pharmacokinetics of Imiglucerase Supports a Possible Personalized Management of Gaucher Disease Type 1. ( 30128966 )
2019
43
Delivery of Glucosylceramidase Beta Gene Using AAV9 Vector Therapy as a Treatment Strategy in Mouse Models of Gaucher Disease. ( 30122074 )
2019
44
Coexistence of Gaucher Disease and severe congenital neutropenia. ( 30473482 )
2019
45
Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report. ( 29595653 )
2018
46
Cholangiocarcinoma occurring in a patient with type 1 Gaucher disease treated with velaglucerase alfa enzyme replacement therapy: First case report. ( 28559130 )
2018
47
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. ( 29979419 )
2018
48
Laparoscopic fenestration for a huge symptomatic splenic cyst in a patient with Gaucher's disease. ( 29572599 )
2018
49
Gaucher’s disease Type I: a case report ( 29756427 )
2018
50
A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene. ( 30216542 )
2018

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_001005741.2(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_001005741.2(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 risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
4 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant 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_001005741.2(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
12 GBA NM_001005741.2(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 GRCh38 Chromosome 1, 155235726: 155235726
13 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
14 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh38 Chromosome 1, 155238141: 155238141
15 GBA NM_001005741.2(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
16 GBA NM_001005741.2(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh38 Chromosome 1, 155235196: 155235196
17 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Conflicting interpretations of pathogenicity rs147138516 GRCh37 Chromosome 1, 155208361: 155208361
18 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Conflicting interpretations of pathogenicity rs147138516 GRCh38 Chromosome 1, 155238570: 155238570
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_001005741.2(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
24 GBA NM_001005741.2(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_001005741.2(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
30 GBA NM_001005741.2(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_001005741.2(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
34 GBA NM_001005741.2(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Likely pathogenic rs80356772 GRCh38 Chromosome 1, 155235195: 155235195
35 GBA NM_001005741.2(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
36 GBA NM_001005741.2(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 Conflicting interpretations of pathogenicity rs61748906 GRCh37 Chromosome 1, 155208019: 155208019
46 GBA NM_001005741.2(GBA): c.667T> C (p.Trp223Arg) single nucleotide variant Conflicting interpretations of pathogenicity 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_001005741.2(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595
50 GBA NM_001005741.2(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:

38
# 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
11.76 ARSA GBA GBA2 PSAP UGCG
2 11.11 ACP5 ARSA GBA PSAP SCARB2
3 10.76 PRKN SNCA
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 extracellular space GO:0005615 9.7 ACE ARSA CHIT1 GBA GRN PSAP
2 lysosome GO:0005764 9.28 ACE ACP5 ARSA CHIT1 GBA GRN
3 lysosomal lumen GO:0043202 9.26 ARSA GBA PSAP SCARB2

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 ARSA CHIT1 GRN PSAP
2 metabolic process GO:0008152 9.62 CHIT1 GBA GBA2 PKLR
3 negative regulation of neuron death GO:1901215 9.54 GBA PRKN SNCA
4 regulation of dopamine secretion GO:0014059 9.52 PRKN SNCA
5 regulation of reactive oxygen species metabolic process GO:2000377 9.51 PRKN SNCA
6 regulation of neurotransmitter secretion GO:0046928 9.49 PRKN SNCA
7 synaptic transmission, dopaminergic GO:0001963 9.48 PRKN SNCA
8 dopamine metabolic process GO:0042417 9.46 PRKN SNCA
9 cellular response to epinephrine stimulus GO:0071872 9.43 PKLR SNCA
10 response to pH GO:0009268 9.4 ARSA GBA
11 dopamine uptake involved in synaptic transmission GO:0051583 9.26 PRKN SNCA
12 sphingolipid metabolic process GO:0006665 9.26 GBA GBA2 PSAP UGCG
13 glucosylceramide catabolic process GO:0006680 9.16 GBA GBA2
14 glycosphingolipid metabolic process GO:0006687 8.92 ARSA GBA2 PSAP UGCG

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 ACP5 SNCA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 CHIT1 GBA2
3 phospholipase binding GO:0043274 9.16 PRKN SNCA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.13 CHIT1 GBA GBA2
5 glucosylceramidase activity GO:0004348 8.62 GBA GBA2

Sources for Gaucher's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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