GD
MCID: GCH001
MIFTS: 64

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 76 24 53 25 54 59 37 29 55 6 43 44 15 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
Gd 25 3
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

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
ICD10 33 E75.22
MeSH 44 D005776
NCIt 50 C61268
SNOMED-CT 68 2859005 62201009
Orphanet 59 ORPHA355
MESH via Orphanet 45 D005776
UMLS via Orphanet 74 C0017205
ICD10 via Orphanet 34 E75.2
KEGG 37 H00126

Summaries for Gaucher's Disease

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

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 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 : 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).

Wikipedia : 76 Gaucher''s disease or Gaucher disease (/ɡo�?�?�?eɪ/) (GD) is a genetic disorder in which... 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 276)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type ii 34.4 GBA PSAP
2 gaucher disease, type iii 34.2 GBA PSAP
3 niemann-pick disease 32.4 CHIT1 GBA PSAP
4 sphingolipidosis 31.9 ARSA GBA GBA3 PSAP SCARB2
5 gaucher disease, type i 31.2 ACP5 CHIT1 GBA GBA3 PKLR PSAP
6 chitotriosidase deficiency 30.7 CHIT1 GBA
7 splenomegaly 30.6 CHIT1 GBA
8 gangliosidosis gm1 30.0 ARSA PSAP
9 krabbe disease 29.7 ARSA CHIT1 PSAP SNCA
10 dementia, lewy body 29.6 GBA PRKN SNCA
11 lipid storage disease 29.5 ARSA GBA GBA3 PSAP
12 nervous system disease 29.4 ACE PRKN SNCA
13 dementia 29.3 ARSA GBA PRKN SNCA
14 gaucher disease, perinatal lethal 12.7
15 gaucher disease, atypical, due to saposin c deficiency 12.6
16 gaucher disease, type iiic 12.5
17 pseudo-gaucher disease 12.3
18 gaucher disease - ophthalmoplegia - cardiovascular calcification 12.3
19 gardner-diamond syndrome 11.8
20 littoral cell angioma of the spleen 11.3
21 46,xx sex reversal 1 11.0
22 autoimmune thyroid disease 2 11.0
23 grover's disease 11.0
24 ocular motor apraxia 11.0
25 sea-blue histiocyte disease 11.0
26 lipid metabolism disorder 11.0
27 herpes simplex 10.5
28 horns in sheep 10.4
29 bone disease 10.3
30 hereditary late-onset parkinson disease 10.2 GBA SNCA
31 thrombocytopenia 10.2
32 liver cirrhosis 10.2
33 metachromatic leukodystrophy, late infantile form 10.1 ARSA PSAP
34 metachromatic leukodystrophy, juvenile form 10.1 ARSA PSAP
35 hand, foot and mouth disease 10.1 GBA SCARB2
36 hemolytic anemia 10.1
37 congenital nonspherocytic hemolytic anemia 10.1
38 adenoma 10.1
39 metachromatic leukodystrophy, adult form 10.1 ARSA PSAP
40 myeloma, multiple 10.1
41 hematopoietic stem cell transplantation 10.1
42 inclusion-cell disease 10.1 ARSA PSAP
43 parkinson disease 10 10.1 PRKN SNCA
44 hemangioma 10.1
45 hepatocellular adenoma 10.1
46 graves' disease 10.1
47 parkinson disease 3, autosomal dominant 10.1 PRKN SNCA
48 dysautonomia 10.1 PRKN SNCA
49 parkinson disease, late-onset 10.1
50 hydrocephalus 10.1

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 abnormality of the heart valves 59 Occasional (29-5%)
41 strabismus 59 Frequent (79-30%)
42 death in infancy 59 Occasional (29-5%)
43 hydrops fetalis 59 Occasional (29-5%)
44 cirrhosis 59 Occasional (29-5%)
45 abnormality of the skeletal system 59 Frequent (79-30%)
46 thrombocytopenia 59 Frequent (79-30%)
47 abnormality of the macula 59 Occasional (29-5%)
48 generalized tonic-clonic seizures 59 Frequent (79-30%)
49 ventriculomegaly 59 Occasional (29-5%)
50 arthrogryposis multiplex congenita 59 Occasional (29-5%)

UMLS symptoms related to Gaucher's Disease:


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

Drugs & Therapeutics for Gaucher's Disease

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

(show top 50) (show all 105)
# 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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
5
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
6 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
7 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
8 Bone Density Conservation Agents Phase 4,Phase 2
9 Calciferol Phase 4,Phase 2
10 Micronutrients Phase 4,Phase 2
11 Vitamins Phase 4,Phase 2
12 Trace Elements Phase 4,Phase 2
13 Immunoglobulins Phase 4
14 Antibodies Phase 4
15 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
16 Hepatitis C Antibodies Phase 4
17 Ledipasvir, sofosbuvir drug combination Phase 4
18 Ergocalciferols Phase 4
19 Vitamin D2 Phase 4
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
21 glucagon Phase 4
22 Hormones Phase 4
23 Hormone Antagonists Phase 4
24 Incretins Phase 4
25 Glucagon-Like Peptide 1 Phase 4
26
Eliglustat Approved Phase 3,Phase 2,Phase 1,Not Applicable 491833-29-5 23652731
27
Miglustat Approved Phase 3,Phase 2,Not Applicable 72599-27-0 51634
28 tannic acid Approved Phase 3
29
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
30
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
31
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 6055-19-2, 50-18-0 2907
32
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
33
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
34
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
35
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
36
1-Deoxynojirimycin Experimental, Investigational Phase 3,Phase 2,Not Applicable 19130-96-2 1374
37
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
38 Anti-HIV Agents Phase 3,Phase 2,Not Applicable
39 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Not Applicable
40 Anti-Retroviral Agents Phase 3,Phase 2,Not Applicable
41 Cardiac Glycosides Phase 3,Phase 2,Not Applicable
42 Prednisolone acetate Phase 2, Phase 3
43 Immunosuppressive Agents Phase 2, Phase 3
44 Methylprednisolone acetate Phase 2, Phase 3
45 Alkylating Agents Phase 2, Phase 3
46 Immunologic Factors Phase 2, Phase 3
47 Antineoplastic Agents, Alkylating Phase 2, Phase 3
48 Antirheumatic Agents Phase 2, Phase 3
49 Antilymphocyte Serum Phase 2, Phase 3
50 Pharmaceutical Solutions Phase 3,Phase 1

Interventional clinical trials:

(show top 50) (show all 108)
# 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 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
12 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
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 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
46 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
47 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2 Ambroxol
48 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease Completed NCT01427517 Phase 1 N-acetylcysteine
49 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
50 Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients Completed NCT01747980 Phase 1 PRX-112

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, Bone Marrow, Brain, Lung, Kidney

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 2263)
# Title Authors Year
1
Hepatocellular carcinoma in Gaucher disease: Reinforcing the proposed guidelines. ( 30446378 )
2019
2
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease: Retraction: Erratum. ( 29688991 )
2018
3
Treatment-naA^ve Gaucher disease patients achieve therapeutic goals and normalization with velaglucerase alfa by 4years in phase 3 trials. ( 27839979 )
2018
4
Gaucher Disease and Myelofibrosis: A Combined Disease or a Misdiagnosis? ( 29945135 )
2018
5
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
6
Laparoscopic fenestration for a huge symptomatic splenic cyst in a patient with Gaucher's disease. ( 29572599 )
2018
7
Type I Gaucher disease with bullous pemphigoid and Parkinson disease: A case report. ( 29595653 )
2018
8
Cauda equina syndrome in a patient diagnosed with type 1 Gaucher disease: a rare case. ( 30094495 )
2018
9
Cholangiocarcinoma occurring in a patient with type 1 Gaucher disease treated with velaglucerase alfa enzyme replacement therapy: First case report. ( 28559130 )
2018
10
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. ( 30382391 )
2018
11
A novel Parkinson's disease risk variant, p. W378R, in the Gaucher's disease GBA gene. ( 30216542 )
2018
12
Improvement In Symptoms Of Gaucher's Disease By Enzyme Replacement Therapy. ( 30465391 )
2018
13
Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously. ( 29744080 )
2018
14
Coexistence of Gaucher Disease and severe congenital neutropenia. ( 30473482 )
2018
15
Retinal detachment in a boy with Gaucher disease. ( 30225236 )
2018
16
Patients' Opinions on Genetic Counseling on the Increased Risk of Parkinson Disease among Gaucher Disease Carriers. ( 28963610 )
2018
17
Splenectomy in Gaucher Disease: A Call for Minimally Invasive Surgery. ( 29521675 )
2018
18
Plasma chitotriosidase activity versus plasma glucosylsphingosine in wide spectrum of Gaucher disease phenotypes - A statistical insight. ( 29530534 )
2018
19
EVALUATION OF EFFICIENCY OF IMIGLUCERASE (CEREZYME) IN THE TREATMENT OF GAUCHER DISEASE (CASE REPORTS AND REVIEW OF THE LITERATURE). ( 29578427 )
2018
20
High-risk screening for Gaucher disease in patients with neurological symptoms. ( 29602947 )
2018
21
Gaucher disease in an adult: A rare cause of hepatosplenomegaly in adults. ( 29607434 )
2018
22
A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China. ( 29625627 )
2018
23
Thromboelastography Before Epidural Placement in a Thrombocytopenic Parturient With Gaucher Disease Treated With Imiglucerase: A Case Report. ( 29634566 )
2018
24
MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association. ( 29650800 )
2018
25
Four Gaucher disease type II patients with three novel mutations: a single centre experience from Turkey. ( 29656334 )
2018
26
Probing the Inhibitor versus Chaperone Properties of sp²-Iminosugars towards Human β-Glucocerebrosidase: A Picomolar Chaperone for Gaucher Disease. ( 29673163 )
2018
27
Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1. ( 29680197 )
2018
28
Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. ( 29685539 )
2018
29
Are There Neurological Symptoms in Type 1 of Gaucher Disease? ( 29696051 )
2018
30
Molecular regulations and therapeutic targets of Gaucher disease. ( 29699937 )
2018
31
Pharmacotherapy of Gaucher Disease: Current and Future Options. ( 29719368 )
2018
32
CE: Understanding the Nurse's Role in Managing Gaucher Disease. ( 29750678 )
2018
33
1.5 CE Test Hours: Understanding the Nurse's Role in Managing Gaucher Disease. ( 29794922 )
2018
34
How we manage Gaucher Disease in the era of choices. ( 29808905 )
2018
35
The motor and cognitive features of Parkinson's disease in patients with concurrent Gaucher disease over 2 years: a case series. ( 29845374 )
2018
36
Monitoring of liver stiffness by transient elastography during the treatment of Gaucher disease. ( 29866519 )
2018
37
The GBA p.Trp378Gly mutation is a probable French-Canadian founder mutation causing Gaucher disease and synucleinopathies. ( 29920646 )
2018
38
Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease. ( 29934064 )
2018
39
Genotypes and phenotypes in 20 Chinese patients with type 2 Gaucher disease. ( 29934114 )
2018
40
Multi-parametric MR imaging using apparent diffusion coefficient and fat fraction in quantification of bone marrow in pediatrics with Gaucher disease. ( 29958157 )
2018
41
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. ( 29979419 )
2018
42
Alleles with more than one mutation can complicate genotype/phenotype studies in Mendelian disorders: Lessons from Gaucher disease. ( 29980418 )
2018
43
Rapid intravenous infusion of velaglucerase-alfa in adults with type 1 Gaucher disease. ( 29989200 )
2018
44
Genetic and clinical characteristics of Filipino patients with Gaucher disease. ( 30023299 )
2018
45
The Importance of a Multidisciplinary Approach in the Management of a Patient with Type I Gaucher Disease. ( 30049986 )
2018
46
Recent advances in the diagnosis and management of Gaucher disease. ( 30058864 )
2018
47
Fetal gene therapy could be feasible for neuronopathic Gaucher disease. ( 30061714 )
2018
48
Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa. ( 30066229 )
2018
49
Exploring genetic modifiers of Gaucher disease: The next horizon. ( 30098107 )
2018
50
A multicenter, open-label, phase III study of Abcertin in Gaucher disease: Erratum. ( 30113507 )
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_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant 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_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 Conflicting interpretations of pathogenicity rs147138516 GRCh37 Chromosome 1, 155208361: 155208361
16 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Conflicting interpretations of pathogenicity 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 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_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
11.76 ARSA GBA GBA2 GBA3 PSAP
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 9.76 ACE ARSA CCL18 CHIT1 GBA PSAP
2 lysosomal lumen GO:0043202 9.26 ARSA GBA PSAP SCARB2
3 lysosome GO:0005764 9.23 ACE ACP5 ARSA CHIT1 GBA PSAP

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.62 CHIT1 GBA GBA2 PKLR
2 regulation of dopamine secretion GO:0014059 9.54 PRKN SNCA
3 negative regulation of neuron death GO:1901215 9.54 GBA PRKN SNCA
4 regulation of reactive oxygen species metabolic process GO:2000377 9.52 PRKN SNCA
5 regulation of neurotransmitter secretion GO:0046928 9.51 PRKN SNCA
6 synaptic transmission, dopaminergic GO:0001963 9.49 PRKN SNCA
7 dopamine metabolic process GO:0042417 9.48 PRKN SNCA
8 cellular response to epinephrine stimulus GO:0071872 9.46 PKLR SNCA
9 response to pH GO:0009268 9.43 ARSA GBA
10 glycoside catabolic process GO:0016139 9.4 GBA2 GBA3
11 sphingolipid metabolic process GO:0006665 9.33 GBA GBA2 PSAP
12 dopamine uptake involved in synaptic transmission GO:0051583 9.26 PRKN SNCA
13 glucosylceramide catabolic process GO:0006680 8.96 GBA GBA2
14 glycosphingolipid metabolic process GO:0006687 8.92 ARSA GBA2 GBA3 PSAP

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 ferrous iron binding GO:0008198 9.4 ACP5 SNCA
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.37 CHIT1 GBA2
4 phospholipase binding GO:0043274 9.32 PRKN SNCA
5 beta-galactosidase activity GO:0004565 9.16 GBA3 PSAP
6 beta-glucosidase activity GO:0008422 8.96 GBA2 GBA3
7 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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