GD
MCID: GCH001
MIFTS: 62

Gaucher's Disease (GD) malady

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

Aliases & Classifications for Gaucher's Disease

Aliases & Descriptions for Gaucher's Disease:

Name: Gaucher's Disease 12 25 14
Gaucher Disease 12 71 23 50 24 25 51 56 52 41 42 14 69
Glucocerebrosidase Deficiency 23 24 25 56
Glucosylceramidase Deficiency 23 50 24 25
Kerasin Thesaurismosis 12 50 25
Lipoid Histiocytosis 12 25 69
Glucosylceramide Beta-Glucosidase Deficiency 12 25
Acid Beta-Glucosidase Deficiency 12 56
Acute Cerebral Gaucher Disease 50 69
Cerebroside Lipidosis Syndrome 50 25
Glucosyl Cerebroside Lipidosis 50 25
Gaucher Splenomegaly 50 25
Glucocerebrosidosis 50 25
Kerasin Lipoidosis 50 25
Gauchers Disease 25 29
Gd 25 3
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 25
Gaucher Disease, Type 1 69
Gaucher Disease, Type 2 69
Kerasin Histiocytosis 25
Gaucher Disease, Type 13
Sphingolipidosis 1 50
Gaucher Syndrome 25

Characteristics:

Orphanet epidemiological data:

56
gaucher disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages;

HPO:

32
gaucher's disease:
Mortality/Aging death in infancy


Classifications:



External Ids:

Disease Ontology 12 DOID:1926
ICD10 33 E75.22
MeSH 42 D005776
NCIt 47 C61268
Orphanet 56 ORPHA355
MESH via Orphanet 43 D005776
UMLS via Orphanet 70 C0017205
ICD10 via Orphanet 34 E75.2
UMLS 69 C0017205

Summaries for Gaucher's Disease

NINDS : 51 Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases.  Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen).  Gaucher disease is caused by a deficiency of the enzyme Fatty materials can accumulate in the brain, spleen, liver, lungs, bone marrow, and kidneys.  Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes.  There are three common clinical subtypes of Gaucher disease. The first category, called  1 (or nonneuropathic), typically does not affect the brain. Symptoms may begin early in life or in adulthood.  People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia  They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms.  In  Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms usually begin by 3 months of age and include extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affecetd children usually die before 2 years of age. In the third category, called  3 (or chronic neuropathic Gaucher disease), signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal  irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders.  

MalaCards based summary : Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type iii and gardner-diamond syndrome, and has symptoms including ataxia, arthralgia and fatigue. An important gene associated with Gaucher's Disease is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Liraglutide and Alfacalcidol have been mentioned in the context of this disorder. Affiliated tissues include bone, spleen and liver.

Disease Ontology : 12 A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver.

Genetics Home Reference : 25 Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.

NIH Rare Diseases : 50 gaucher disease refers to a group of inherited conditions that affect many organs and tissues in the body. signs and symptoms vary widely among affected individuals. there are different types of this condition: gaucher disease perinatal lethal, gaucher disease type 1, gaucher disease type 2, and gaucher disease type 3. gaucher disease type 1 is the most common form of this condition. gaucher disease is inherited in an autosomal recessive fashion and is caused by mutations in the gba gene. last updated: 11/4/2015

MedlinePlus : 41 gaucher disease is a rare, inherited disorder. it is a type of lipid metabolism disorder. if you have it, you do not have enough of an enzyme called glucocerebrosidase. this causes too much of a fatty substance to build up in your spleen, liver, lungs, bones and, sometimes, your brain. this prevents these organs from working properly. there are three types: type 1, the most common form, causes liver and spleen enlargement, bone pain and broken bones, and, sometimes, lung and kidney problems. it does not affect the brain. it can occur at any age. type 2, which causes severe brain damage, appears in infants. most children who have it die by age 2. in type 3, there may be liver and spleen enlargement. the brain is gradually affected. it usually starts in childhood or adolescence. gaucher disease has no cure. treatment options for types 1 and 3 include medicine and enzyme replacement therapy, which is usually very effective. there is no good treatment for the brain damage of types 2 and 3. nih: national institute of neurological disorders and stroke

Wikipedia : 71 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (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 all 25)
id Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 34.1 GBA PSAP
2 gardner-diamond syndrome 11.5
3 gaucher disease, type i 11.4
4 niemann-pick disease 11.1
5 chromosome breakage syndromes 10.3 CHIT1 GBA
6 gaucher disease, type iiic 10.3 GBA PSAP
7 47,xyy syndrome 10.2 CHIT1 PSAP
8 diffuse large b-cell lymphoma of the central nervous system 10.2 ARSA PSAP
9 follicular cholangitis and pancreatitis 10.2 ARSA PSAP
10 osteochondrosis 10.2 CHIT1 GBA PSAP
11 primary cutaneous anaplastic large cell lymphoma 10.2 ARSA PSAP
12 spina bifida occulta 10.1 ARSA PSAP
13 hypertelorism, preauricular sinus, punctal pits, and deafness 10.1 ARSA CHIT1 PSAP
14 pediatric lymphoma 10.0 ADA GBA
15 partial motor epilepsy 9.9 HEXA PSAP
16 spondyloenchondrodysplasia with immune dysregulation 9.9 HEXA PSAP
17 mitochondrial dna depletion syndrome 1 9.9 ARSA HEXA PSAP
18 glioma susceptibility 4 9.9 ARSA HEXA PSAP
19 spastic ectropion 9.9 CHIA HEXA
20 clear cell adenoma 9.8 GBA HEXA
21 mannosidosis 9.8 ARSA GBA HEXA
22 mononeuritis of lower limb 9.7 ARSA GBA GBA3 HEXA PSAP
23 dysostosis 9.5 ARSA GBA GBA3 HEXA PSAP SCARB2
24 gaucher disease, type ii 8.2 ACP5 ADA ARSA CCL18 CHIA CHIT1
25 hypothalamic disease 8.2 ACP5 ADA ARSA CCL18 CHIA CHIT1

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:

56 32 (show top 50) (show all 70)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 arthralgia 56 32 Frequent (79-30%) HP:0002829
3 fatigue 56 32 Very frequent (99-80%) HP:0012378
4 fever 56 32 Frequent (79-30%) HP:0001945
5 tremor 56 32 Occasional (29-5%) HP:0001337
6 abdominal pain 56 32 Frequent (79-30%) HP:0002027
7 joint stiffness 56 32 Occasional (29-5%) HP:0001387
8 abnormality of extrapyramidal motor function 56 32 Occasional (29-5%) HP:0002071
9 bone pain 56 32 Frequent (79-30%) HP:0002653
10 joint dislocation 56 32 Frequent (79-30%) HP:0001373
11 osteoarthritis 56 32 Occasional (29-5%) HP:0002758
12 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
13 depression 56 32 Frequent (79-30%) HP:0000716
14 osteopenia 56 32 Frequent (79-30%) HP:0000938
15 muscular hypotonia 56 32 Occasional (29-5%) HP:0001252
16 dysphagia 56 32 Frequent (79-30%) HP:0002015
17 respiratory insufficiency 56 32 Occasional (29-5%) HP:0002093
18 developmental regression 56 32 Frequent (79-30%) HP:0002376
19 hearing impairment 56 32 Occasional (29-5%) HP:0000365
20 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
21 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
22 delayed skeletal maturation 56 32 Frequent (79-30%) HP:0002750
23 corneal opacity 56 32 Occasional (29-5%) HP:0007957
24 aseptic necrosis 56 32 Frequent (79-30%) HP:0010885
25 short stature 56 32 Occasional (29-5%) HP:0004322
26 ichthyosis 56 32 Occasional (29-5%) HP:0008064
27 feeding difficulties in infancy 56 32 Frequent (79-30%) HP:0008872
28 proteinuria 56 32 Occasional (29-5%) HP:0000093
29 retinopathy 56 32 Occasional (29-5%) HP:0000488
30 delayed puberty 56 32 Frequent (79-30%) HP:0000823
31 cranial nerve paralysis 56 32 Occasional (29-5%) HP:0006824
32 pulmonary fibrosis 56 32 Occasional (29-5%) HP:0002206
33 cherry red spot of the macula 56 32 Occasional (29-5%) HP:0010729
34 hepatitis 56 32 Occasional (29-5%) HP:0012115
35 anemia 56 32 Very frequent (99-80%) HP:0001903
36 pancytopenia 56 32 Occasional (29-5%) HP:0001876
37 generalized myoclonic seizures 56 32 Frequent (79-30%) HP:0002123
38 hemiplegia/hemiparesis 56 32 Occasional (29-5%) HP:0004374
39 strabismus 56 32 Frequent (79-30%) HP:0000486
40 hydrops fetalis 56 32 Occasional (29-5%) HP:0001789
41 cirrhosis 56 32 Occasional (29-5%) HP:0001394
42 thrombocytopenia 56 32 Frequent (79-30%) HP:0001873
43 abnormality of the macula 56 32 Occasional (29-5%) HP:0001103
44 generalized tonic-clonic seizures 56 32 Frequent (79-30%) HP:0002069
45 ventriculomegaly 56 32 Occasional (29-5%) HP:0002119
46 arthrogryposis multiplex congenita 56 32 Occasional (29-5%) HP:0002804
47 hematuria 56 32 Occasional (29-5%) HP:0000790
48 abnormality of the myocardium 56 32 Occasional (29-5%) HP:0001637
49 mitral valve calcification 56 32 Occasional (29-5%) HP:0004382
50 osteomyelitis 56 32 Occasional (29-5%) HP:0002754

UMLS symptoms related to Gaucher's Disease:


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

Drugs & Therapeutics for Gaucher's Disease

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

(show top 50) (show all 117)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4 204656-20-2
2
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
3 Hormone Antagonists Phase 4,Phase 3
4 Hormones Phase 4,Phase 3
5 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3
6 vitamin d Phase 4,Phase 2
7 Trace Elements Phase 4,Phase 2
8 Hypoglycemic Agents Phase 4,Phase 3,Phase 2
9 Vitamins Phase 4,Phase 2
10 Immunoglobulins Phase 4
11 Antibodies Phase 4
12 Micronutrients Phase 4,Phase 2
13 Bone Density Conservation Agents Phase 4,Phase 2
14 Hydroxycholecalciferols Phase 4
15 glucagon Phase 4
16 Glucagon-Like Peptide 1 Phase 4
17 Incretins Phase 4
18
Betamethasone Approved, Vet_approved Phase 3 378-44-9 9782
19
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
20
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
21
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
22
Miglustat Approved Phase 3,Phase 2 72599-27-0 51634
23
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
24
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
25
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
26 tannic acid Approved, Nutraceutical Phase 3
27
1-Deoxynojirimycin Experimental Phase 3,Phase 2 19130-96-2 1374
28 Betamethasone Valerate Phase 3 2152-44-5
29 glucocorticoids Phase 3
30 Anti-Asthmatic Agents Phase 3
31 Anti-Bacterial Agents Phase 3,Phase 2
32 Anti-Infective Agents Phase 3,Phase 2,Phase 1
33 Anti-Inflammatory Agents Phase 3,Phase 2
34 Respiratory System Agents Phase 3,Phase 2,Phase 1
35 Antibiotics, Antitubercular Phase 3,Phase 2
36 Betamethasone benzoate Phase 3
37 Betamethasone sodium phosphate Phase 3
38 Betamethasone-17,21-dipropionate Phase 3
39 Antitubercular Agents Phase 3
40 Prednisolone acetate Phase 2, Phase 3
41 Alkylating Agents Phase 2, Phase 3
42 Glycoside Hydrolase Inhibitors Phase 3,Phase 2
43 Anti-HIV Agents Phase 3,Phase 2
44 Prednisolone hemisuccinate Phase 2, Phase 3
45 Prednisolone phosphate Phase 2, Phase 3
46 Immunosuppressive Agents Phase 2, Phase 3
47 Antilymphocyte Serum Phase 2, Phase 3
48 Anti-Retroviral Agents Phase 3,Phase 2
49 Methylprednisolone acetate Phase 2, Phase 3
50 Methylprednisolone Hemisuccinate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 103)
id Name Status NCT ID Phase
1 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4
2 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
3 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4
4 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
5 Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years Recruiting NCT02574286 Phase 4
6 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4
7 Antigen-Lipid-Driven Monoclonal Gammopathies Targeting Epicardial Fat Not yet recruiting NCT02920190 Phase 4
8 Interest of Intravitreal Corticotherapy as the First-line Treatment for Post-operative Endophthalmitis Unknown status NCT01768078 Phase 3
9 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3
10 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3
11 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3
12 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3
13 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
14 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
15 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
16 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
17 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
18 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3
19 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
20 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3
21 Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3
22 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3
23 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3
24 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3
25 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
26 Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3
27 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3
28 Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Unknown status NCT01951989 Phase 2
29 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2
30 Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Completed NCT00391625 Phase 1, Phase 2
31 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2
32 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2
33 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896 Phase 2
34 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
35 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2
36 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2
37 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2
38 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2
39 An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 Completed NCT02107846 Phase 2
40 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2
41 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2
42 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2
43 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2
44 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
45 The Efficacy of PX0612 In The Treatment Of Irritable Bowel Syndrome Recruiting NCT02431533 Phase 2
46 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2
47 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1
48 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease Completed NCT01427517 Phase 1
49 Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher Disease Completed NCT00004294 Phase 1
50 Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients Completed NCT01747980 Phase 1

Search NIH Clinical Center for Gaucher's Disease

Cochrane evidence based reviews: gaucher disease

Genetic Tests for Gaucher's Disease

Genetic tests related to Gaucher's Disease:

id Genetic test Affiliating Genes
1 Gaucher Disease 29 24 GBA

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

39
Bone, Spleen, Liver, Bone Marrow, Brain, Lung, Kidney

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 538)
id Title Authors Year
1
Transient Expression of Functional Glucocerebrosidase for Treatment of Gaucher's Disease in the Goat Mammary Gland. ( 26589705 )
2016
2
A Novel Functional Missense Mutation p.T219A in Type 1 Gaucher's Disease. ( 27098793 )
2016
3
Lysosomal trafficking defects link Parkinson's disease with Gaucher's disease. ( 27619775 )
2016
4
Impaired gait kinematics in type 1 Gaucher's Disease. ( 26756743 )
2016
5
Gaucher's Disease with Cardiac Valve Calcification and Stenosis: A Rare Presentation due to Homozygous p.D409H Mutation in a North Indian Family. ( 26887759 )
2016
6
Gaucher's Disease: A Rare Case, Diagnosed By Fine Needle Aspiration Cytology. ( 27134885 )
2016
7
Role of Nanotechnology for Enzyme Replacement Therapy in Lysosomal Diseases. A Focus on Gaucher's Disease. ( 26860997 )
2016
8
Assessment of the liver and spleen in children with Gaucher's disease type I with diffusion-weighted MR imaging. ( 28012701 )
2016
9
Gaucher's disease: report of 11 cases with review of literature. ( 25995815 )
2015
10
Plant-based oral delivery of I^-glucocerebrosidase as an enzyme replacement therapy for Gaucher's disease. ( 25828481 )
2015
11
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial. ( 25819691 )
2015
12
Activation of p38 Mitogen-Activated Protein Kinase in Gaucher's Disease. ( 26312487 )
2015
13
Magnetic resonance imaging and BMB score in the evaluation of bone involvement in Gaucher's disease patients. ( 26379319 )
2015
14
Eliglustat for Gaucher's disease: trippingly on the tongue. ( 25819692 )
2015
15
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. ( 24125842 )
2014
16
RIPK3 as a potential therapeutic target for Gaucher's disease. ( 24441827 )
2014
17
Oral health of a child being treated for subtype I Gaucher's disease. ( 24588495 )
2014
18
Chronic neuronopathic type of Gaucher's disease with progressive myoclonic epilepsy in the absence of visceromegaly and bone involvement. ( 24671628 )
2014
19
In silico identification of genetic variants in glucocerebrosidase (GBA) gene involved in Gaucher's disease using multiple software tools. ( 24904648 )
2014
20
Niemann-Pick disease type C or Gaucher's disease type 3? A clinical conundrum. ( 24811560 )
2014
21
Gaucher's disease oral therapy gets nod from FDA. ( 25299908 )
2014
22
ERdj3 is an endoplasmic reticulum degradation factor for mutant glucocerebrosidase variants linked to Gaucher's disease. ( 25126989 )
2014
23
Diffusion-Weighted Magnetic Resonance Imaging and Magnetic Resonance Spectroscopy Features of Abdominal Viscera in a Patient with Gaucher's Disease. ( 25246842 )
2014
24
Docking and SAR studies of calystegines: binding orientation and influence on pharmacological chaperone effects for Gaucher's disease. ( 24657053 )
2014
25
Gaucher's disease and cancer: a sphingolipid perspective. ( 23510065 )
2013
26
Proton MR Spectroscopy of the brain in children with neuronopathic Gaucher's disease. ( 23783781 )
2013
27
Haemorrhagic pericardial effusion in type I Gaucher's disease. ( 24974496 )
2013
28
Apparent diffusion coefficient of the vertebral bone marrow in children with Gaucher's disease type I and III. ( 22718272 )
2013
29
Iron staining in gammopathy-related crystal-storing histiocytosis: a misleading feature to the differential diagnosis with Gaucher's disease. ( 23962646 )
2013
30
Hematologic manifestations and leukemia in Gaucher's disease. ( 23604244 )
2013
31
B cell lymphoma and myeloma in murine Gaucher's disease. ( 23775597 )
2013
32
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. ( 23225227 )
2013
33
A case of unusual association of Gaucher's disease with spinal tuberculosis. ( 23981762 )
2013
34
Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds. ( 23118351 )
2013
35
Middle-ear involvement in type I Gaucher's disease - a unique case. ( 24300021 )
2013
36
A case of Gaucher's disease progressing to liver cirrhosis. ( 23715368 )
2013
37
Gaucher's disease: rare presentation of a rare disease. ( 22914376 )
2013
38
Gaucher's Disease, an Unusual Cause of Massive Splenomegaly, a Case Report. ( 24575292 )
2013
39
Vestibular and Saccadic Abnormalities in Gaucher's Disease. ( 24142279 )
2013
40
Horizontal gaze palsy with progressive myoclonic epilepsy: rare presentation of Gaucher's disease. ( 23644323 )
2013
41
A Rare Case of Hemoglobin E Hemoglobinopathy with Gaucher's Disease. ( 24426351 )
2013
42
Phenotypic variability of prenatally presenting Gaucher's disease. ( 23749476 )
2013
43
Acute lymphoblastic leukemia during enzyme replacement therapy in type 1 Gaucher's disease. ( 23604243 )
2013
44
Contribution of brain inflammation to neuronal cell death in neuronopathic forms of Gaucher's disease. ( 22566609 )
2012
45
Myocardial infiltration in Gaucher's disease detected by cardiac MRI. ( 21742390 )
2012
46
Positive JAK2-V617F leading to diagnosis of Gaucher's disease. ( 22461650 )
2012
47
Dentomaxillofacial manifestations of Gaucher's disease: preliminary clinical and radiographic findings. ( 22988312 )
2012
48
Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease. ( 22772462 )
2012
49
Medical image. an unusual cause of massive splenomegaly in an adult. Gaucher's disease. ( 22960721 )
2012
50
The French Gaucher's disease registry: clinical characteristics, complications and treatment of 562 patients. ( 23046562 )
2012

Variations for Gaucher's Disease

ClinVar genetic disease variations for Gaucher's Disease:

6 (show all 20)
id Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
3 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
4 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
5 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
6 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
7 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
8 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
9 GBA NM_000157.3(GBA): c.27+1G> A single nucleotide variant Pathogenic rs80356759 GRCh37 Chromosome 1, 155210876: 155210876
10 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
11 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
12 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
13 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
14 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387
15 GBA NM_000157.3(GBA): c.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh38 Chromosome 1, 155240651: 155240652
16 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Pathogenic/Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
17 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
18 GBA NM_000157.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
19 GBA NM_000157.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 GRCh37 Chromosome 1, 155208421: 155208421
20 GBA NM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs) deletion Pathogenic rs80356768 GRCh37 Chromosome 1, 155205541: 155205595

Expression for Gaucher's Disease

Search GEO for disease gene expression data for Gaucher's Disease.

Pathways for Gaucher's Disease

GO Terms for Gaucher's Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 ADA ARSA CCL18 CHIA CHIT1 GBA
2 lysosomal lumen GO:0043202 9.35 ARSA GBA HEXA PSAP SCARB2
3 lysosome GO:0005764 9.23 ACP5 ADA ARSA CHIT1 GBA HEXA

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

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.63 ARSA CHIA CHIT1 GBA HEXA PKLR
2 negative regulation of inflammatory response GO:0050728 9.61 ACP5 ADA GBA
3 sphingolipid metabolic process GO:0006665 9.54 GBA PSAP UGCG
4 response to pH GO:0009268 9.46 ARSA GBA
5 carbohydrate metabolic process GO:0005975 9.43 CHIA CHIT1 GBA GBA3 HEXA PKLR
6 chitin catabolic process GO:0006032 9.4 CHIA CHIT1
7 polysaccharide catabolic process GO:0000272 9.32 CHIA CHIT1
8 chitin metabolic process GO:0006030 9.26 CHIA CHIT1
9 glycosphingolipid metabolic process GO:0006687 9.1 ARSA GBA GBA3 HEXA PSAP UGCG

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 ACP5 ADA ARSA CHIA CHIT1 GBA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.4 CHIA CHIT1
3 chitin binding GO:0008061 9.32 CHIA CHIT1
4 chitinase activity GO:0004568 9.26 CHIA CHIT1
5 beta-galactosidase activity GO:0004565 9.16 GBA3 PSAP
6 glucosylceramidase activity GO:0004348 8.96 GBA GBA3
7 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 CHIA CHIT1 GBA HEXA

Sources for Gaucher's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....