GD
MCID: GCH001
MIFTS: 69

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 43 15
Gaucher Disease 12 73 25 20 43 53 58 36 29 54 6 42 44 15 70
Glucocerebrosidase Deficiency 25 43 58
Glucosylceramidase Deficiency 25 20 43
Kerasin Thesaurismosis 12 20 43
Glucosylceramide Beta-Glucosidase Deficiency 12 43
Acid Beta-Glucosidase Deficiency 12 58
Acute Cerebral Gaucher Disease 20 70
Cerebroside Lipidosis Syndrome 20 43
Glucosyl Cerebroside Lipidosis 20 43
Lipoid Histiocytosis 43 70
Gaucher Splenomegaly 20 43
Glucocerebrosidosis 20 43
Kerasin Lipoidosis 20 43
Glocucerebrosidase Deficiency 12
Glucosylceramide Lipidosis 43
Gaucher Disease, Type 1 70
Gaucher Disease, Type 2 70
Kerasin Histiocytosis 43
Sphingolipidosis 1 20
Gaucher Syndrome 43
Gauchers Disease 43
Gd 43

Characteristics:

Orphanet epidemiological data:

58
gaucher disease
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Sweden); Age of onset: All ages;

HPO:

31
gaucher's disease:
Onset and clinical course death in infancy


Classifications:

Orphanet: 58  
Inborn errors of metabolism


Summaries for Gaucher's Disease

MedlinePlus Genetics : 43 Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).

MalaCards based summary : Gaucher's Disease, also known as gaucher disease, is related to gaucher disease, type iii and gaucher disease, type ii, 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, spleen and liver, and related phenotypes are splenomegaly and hepatomegaly

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.

GARD : 20 Gaucher disease refers to a group of inherited metabolic diseases in which harmful amounts of fatty materials (lipids) accumulate in various cells and tissues in the body (lipid storage disorder). Signs and symptoms vary widely among affected individuals and may include skeletal disorders, enlarged spleen and liver ( hepatosplenomegaly ), liver malfunction, anemia, low platelet counts, bone problems, and neurological problems. There are different types of Gaucher disease classified according to specific features and severity: Gaucher disease perinatal lethal, Gaucher disease type 1, Gaucher disease type 2, Gaucher disease type 3, and cardiovascular type or Type 3C (where the main problem is a hardening (calcification) of the heart valves). Gaucher disease type 1 is the most common form. Gaucher disease follows an autosomal recessive pattern of inheritance. It is caused by mutations in the GBA gene. Treatment depends on the specific subtype, and may include enzyme replacement therapy (ERT) or substrate reduction therapy (SRT).

MedlinePlus : 42 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 fractures (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

NINDS : 53 Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases.  Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen).  People with Gaucher disease either do not produce enough of the enzyme glucocerebrosidase needed to break down lipids or have enzymes that do not work properly.  Fatty materials can accumulate in the brain and other organs.  General symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes.   There are three common clinical subtypes of Gaucher disease: Type 1 (or nonneuropathic) typically does not affect the brain.  Symptoms may begin early in life or in adulthood.  People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia  They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms.   Type 2 Gaucher disease (acute infantile neuropathic Gaucher disease) symptoms usually begin by 3 months of age and includes extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affected children usually die before 2 years of age. Type 3 (or chronic neuropathic Gaucher disease) includes signs of brain involvement, seizures, skeletal  irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders.

KEGG : 36 Gaucher disease is an autosomal recessive lysosomal storage disorder caused by deficient beta-glucocerebrosidase (glucosylceramidase) activity or saposin C which is an activator of beta-glucocerebrosidase in sphingolipid metabolism. The enzymatic defects lead to the accumulation of glucosylceramide (GC) in lysosomes of affected cells. Despite the fact that Gaucher Disease consists of a phenotype, with varying degrees of severity, it has been sub-divided in three subtypes according to the presence or absence of neurological involvement. The sub-types are Type 1, 2 and 3.

Wikipedia : 73 Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a... more...

GeneReviews: NBK1269

Related Diseases for Gaucher's Disease

Diseases in the Gaucher's Disease family:

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

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

(show top 50) (show all 511)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 33.1 PSAP LOC106627981 GBA
2 gaucher disease, type ii 33.0 PSAP LOC106627981 LAMP2 GBA CHIT1 CCL18
3 gaucher disease, type i 32.9 UGCG PSAP MSH6 LOC106627981 GBA CTSD
4 gaucher disease, perinatal lethal 32.8 LOC106627981 GBA
5 lysosomal storage disease 31.4 PSAP HEXA GBA CTSD CHIT1
6 fabry disease 31.0 UGCG PSAP LAMP2 LAMP1 GBA CHIT1
7 krabbe disease 31.0 UGCG PSAP GBA CHIT1
8 lipid storage disease 30.9 UGCG PSAP GBA CHIT1
9 chitotriosidase deficiency 30.8 GBA CHIT1
10 niemann-pick disease 30.8 UGCG PSAP LAMP1 GBA CTSD CHIT1
11 gm1 gangliosidosis 30.7 UGCG PSAP HEXA GBA CHIT1
12 sphingolipidosis 30.7 UGCG PSAP LAMP2 LAMP1 HEXA GBA
13 dementia, lewy body 30.6 LOC106627981 GBA CTSD
14 constrictive pericarditis 30.5 ADA ACE
15 metachromatic leukodystrophy 30.5 PSAP HEXA ADA
16 niemann-pick disease, type a 30.4 PSAP GBA CHIT1
17 gangliosidosis 30.3 UGCG PSAP HEXA CHIT1
18 niemann-pick disease, type c1 30.3 UGCG PSAP LAMP2 LAMP1
19 tay-sachs disease 30.3 UGCG PSAP HEXA GBA CHIT1
20 mucopolysaccharidosis-plus syndrome 30.2 LAMP2 LAMP1 HEXA GBA CTSD CHIT1
21 neuronal ceroid lipofuscinosis 30.2 PSAP MTX1 LAMP1 CTSD
22 mucolipidosis 30.1 PSAP LAMP2 LAMP1 HEXA CTSD
23 cardiac tamponade 30.1 ADA ACE
24 gaucher disease, type iiic 11.4
25 gaucher disease, atypical, due to saposin c deficiency 11.3
26 lipid metabolism disorder 11.0
27 sea-blue histiocyte disease 11.0
28 pseudo-gaucher disease 11.0
29 splenomegaly 10.7
30 hypersplenism 10.6
31 vasculogenic impotence 10.5 ADA ACE
32 uveoparotid fever 10.4 CHIT1 CCL18 ACE
33 cerebral lipidosis 10.4 UGCG CHIT1
34 hepatic tuberculosis 10.4 CHIT1 CCL18 ACE
35 phosphatase, acid, of tissues 10.4 LAMP2 LAMP1
36 rigidity and multifocal seizure syndrome, lethal neonatal 10.4 LOC106627981 GBA
37 bone disease 10.4
38 thrombocytopenia 10.4
39 salla disease 10.4 LAMP2 LAMP1
40 osteonecrosis 10.4
41 avascular necrosis 10.4
42 gm2 gangliosidosis 10.4 UGCG PSAP HEXA GBA
43 sandhoff disease 10.4 UGCG PSAP HEXA
44 mucolipidosis ii alpha/beta 10.4 PSAP LAMP2 LAMP1 CTSD
45 gm2-gangliosidosis, ab variant 10.4 PSAP LAMP2 HEXA GBA
46 sarcoidosis 1 10.4 CHIT1 CCL18 ADA ACE
47 familial hyperlipidemia 10.4 LOC106627981 GBA ACE
48 mucopolysaccharidosis iii 10.4 LAMP2 LAMP1 GBA CTSD
49 autosomal recessive disease 10.4
50 osteomyelitis 10.4

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:

58 31 (show top 50) (show all 72)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
2 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 anemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001903
5 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
6 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
7 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
8 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
9 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
10 delayed skeletal maturation 58 31 frequent (33%) Frequent (79-30%) HP:0002750
11 avascular necrosis 58 31 frequent (33%) Frequent (79-30%) HP:0010885
12 feeding difficulties in infancy 58 31 frequent (33%) Frequent (79-30%) HP:0008872
13 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
14 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
15 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
16 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
17 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
18 arthralgia 58 31 frequent (33%) Frequent (79-30%) HP:0002829
19 recurrent fractures 58 31 frequent (33%) Frequent (79-30%) HP:0002757
20 joint dislocation 58 31 frequent (33%) Frequent (79-30%) HP:0001373
21 bone pain 58 31 frequent (33%) Frequent (79-30%) HP:0002653
22 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
23 generalized myoclonic seizure 31 frequent (33%) HP:0002123
24 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
25 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
26 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
27 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
28 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
29 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
30 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
31 ichthyosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0008064
32 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
33 retinopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000488
34 cranial nerve paralysis 58 31 occasional (7.5%) Occasional (29-5%) HP:0006824
35 cherry red spot of the macula 58 31 occasional (7.5%) Occasional (29-5%) HP:0010729
36 hydrops fetalis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001789
37 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
38 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
39 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
40 hemiplegia/hemiparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0004374
41 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
42 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
43 mitral valve calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0004382
44 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
45 abnormality of extrapyramidal motor function 58 31 occasional (7.5%) Occasional (29-5%) HP:0002071
46 increased bone mineral density 58 31 occasional (7.5%) Occasional (29-5%) HP:0011001
47 osteomyelitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002754
48 gingival bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0000225
49 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
50 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092

UMLS symptoms related to Gaucher's Disease:


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

GenomeRNAi Phenotypes related to Gaucher's Disease according to GeneCards Suite gene sharing:

26 (show all 24)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-100 9.78 LAMP1
2 Increased shRNA abundance (Z-score > 2) GR00366-A-104 9.78 LAMP1
3 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.78 LAMP2
4 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.78 LAMP2
5 Increased shRNA abundance (Z-score > 2) GR00366-A-12 9.78 LAMP1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.78 LAMP2
7 Increased shRNA abundance (Z-score > 2) GR00366-A-148 9.78 LAMP2 UGCG
8 Increased shRNA abundance (Z-score > 2) GR00366-A-151 9.78 LAMP1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-162 9.78 LAMP2
10 Increased shRNA abundance (Z-score > 2) GR00366-A-174 9.78 LAMP2
11 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.78 LAMP1
12 Increased shRNA abundance (Z-score > 2) GR00366-A-191 9.78 LAMP2
13 Increased shRNA abundance (Z-score > 2) GR00366-A-200 9.78 LAMP2
14 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.78 LAMP1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-34 9.78 UGCG
16 Increased shRNA abundance (Z-score > 2) GR00366-A-4 9.78 LAMP1 LAMP2 PSAP UGCG
17 Increased shRNA abundance (Z-score > 2) GR00366-A-44 9.78 LAMP2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.78 LAMP2 PSAP
19 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.78 LAMP1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.78 LAMP2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-65 9.78 LAMP2
22 Increased shRNA abundance (Z-score > 2) GR00366-A-66 9.78 LAMP1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-68 9.78 UGCG
24 Increased shRNA abundance (Z-score > 2) GR00366-A-87 9.78 LAMP2

MGI Mouse Phenotypes related to Gaucher's Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ACE ADA CTSD GBA HEXA LAMP1
2 immune system MP:0005387 9.7 ACE ADA CHIA CHIT1 CTSD GBA
3 mortality/aging MP:0010768 9.44 ACE ADA CTSD GBA HEXA LAMP1

Drugs & Therapeutics for Gaucher's Disease

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

(show top 50) (show all 82)
# 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
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4 Anti-Infective Agents Phase 4
5 Antiviral Agents Phase 4
6 Ledipasvir, sofosbuvir drug combination Phase 4
7 Hepatitis C Antibodies Phase 4
8 Vitamins Phase 4
9 Calciferol Phase 4
10 Nutrients Phase 4
11 Trace Elements Phase 4
12 Micronutrients Phase 4
13 Pharmaceutical Solutions Phase 4
14 Liver Extracts Phase 4
15
Miglustat Approved Phase 3 72599-27-0 51634
16
tannic acid Approved Phase 3 1401-55-4
17
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
18
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
19
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
20
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
21
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
22
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
23
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
24
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
25
Eliglustat Approved Phase 3 491833-29-5 23652731
26
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
27 Glycoside Hydrolase Inhibitors Phase 3
28 Anti-Retroviral Agents Phase 3
29 Cardiac Glycosides Phase 3
30 Anti-HIV Agents Phase 3
31 Hypoglycemic Agents Phase 3
32 Methylprednisolone Acetate Phase 2, Phase 3
33 Immunosuppressive Agents Phase 2, Phase 3
34 Alkylating Agents Phase 2, Phase 3
35 Antirheumatic Agents Phase 2, Phase 3
36 Antilymphocyte Serum Phase 2, Phase 3
37
Coal tar Approved Phase 2 8007-45-2
38
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
39
Calcium carbonate Approved, Investigational Phase 2 471-34-1
40
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
41
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
42
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
43
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
44
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
45
Ambroxol Approved, Investigational Phase 1, Phase 2 18683-91-5
46
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
47
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
48 Antacids Phase 2
49 Calcium, Dietary Phase 2
50 Anti-Ulcer Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 120)
# Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Ledipasvir/Sofosbuvir Fixed Dose Combination Therapy in Treatment of Chronic Hepatitis C Infection in Egyptian Children With Gaucher Disease Unknown status NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
2 A Multicenter, Double-blind, Randomized Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
3 A Phase IV, Multicenter, Randomized, Dose Frequency Study of the Safety and Efficacy of Cerezyme® Infusions Every Four Weeks Versus Every Two Weeks in the Maintenance Therapy of Patients With Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
4 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease: An Investigator-initiated Study Completed NCT03702361 Phase 4 VPRIV
5 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)
6 An Open-label, Multicenter, Single-arm, Phase 4 Study of the Effect of Treatment With Velaglucerase Alfa on Bone-related Pathology in Treatment-naïve Patients With Type 1 Gaucher Disease Completed NCT02574286 Phase 4 Velaglucerase alfa
7 A Single Arm, Prospective, Open Label, Multicenter Study to Evaluate Efficacy and Safety of One-year Maximum Dosage in Chinese Label of Imiglucerase Treatment in Chinese Patients Who Are Diagnosed as Gaucher Disease Type Ⅲ Recruiting NCT04656600 Phase 4 Cerezyme® / Imiglucerase
8 A Multicenter, Safety and Efficacy Study of Taliglucerase Alfa in Subjects With Type 3 Gaucher Disease Recruiting NCT04002830 Phase 4 Elelyso
9 Long Term Impact of Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Adult Patients With Type 1 Gaucher Disease, Previously on a Stable Dose of VPRIV for at Least 3 Months: an Extension of the Investigator-initiated Study Active, not recruiting NCT04120506 Phase 4 VPRIV
10 A Multicenter, Interventional, Retrospective and Prospective Study of Enzyme Replacement Therapy (VPRIV) Clinical Outcomes and Safety in Gaucher Disease Type 1 Patients Previously Treated With Substrate Reduction Therapy Not yet recruiting NCT04718779 Phase 4 Velaglucerase alfa
11 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
12 A MULTICENTER, OPEN LABEL, PHARMACOKINETICS, PHARMACODYNAMICS AND SAFETY STUDY OF ELELYSO(TM) (TALIGLUCERASE ALFA) IN PEDIATRIC SUBJECTS WITH TYPE 1 GAUCHER DISEASE Withdrawn NCT03021941 Phase 4 Elelyso 60 units/kg
13 A Multicenter, Open-Label Phase III Study to Evaluate the Safety and Efficacy of ISU302 (Imiglucerase for Injection) in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
14 A Multicenter, Randomized, Double-Blind, Parallel Group, Two-Dose Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Completed NCT00430625 Phase 3
15 Open-label, Non Comparative, Multi-center Study to Evaluate the Long Term Efficacy, Safety and Tolerability of Oral Miglustat as a Maintenance Therapy After a Switch From Enzyme Replacement Therapy in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 Miglustat
16 A Multicenter, Randomized, Double-Blind, Parallel-Group Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy Compared With Imiglucerase in Patients With Type I Gaucher Disease Completed NCT00553631 Phase 3
17 An Open-Label Extension Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
18 A Phase 3, Randomized, Multi-Center, Multi-National, Open-Label, Active Comparator Study to Evaluate the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE) Completed NCT00943111 Phase 3 Eliglustat tartrate;Imiglucerase
19 A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Confirming the Efficacy and Safety of Genz-112638 in Patients With Gaucher Disease Type 1 (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
20 A Phase 3, Randomized, Multi-Center, Multi-National, Double-Blind Study to Evaluate the Efficacy, Safety and Pharmacokinetics of Once Daily Versus Twice Daily Dosing of Genz-112638 in Patients With Gaucher Disease Type 1 Who Have Demonstrated Clinical Stability on a Twice Daily Dose of Genz-112638 Completed NCT01074944 Phase 3 Eliglustat tartrate
21 A Multicenter Open-Label Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Patients With Type 1 Gaucher Disease Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
22 A Phase III, Multicenter, Randomized, Double-Blind Trial to Assess the Safety and Efficacy of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
23 A Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
24 A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase in Patients With Gaucher Disease Treated With Imiglucerase Completed NCT00712348 Phase 3 Taliglucerase alfa
25 A Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
26 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
27 A Multicenter, Double-Blind, Extension Trial of Two Parallel Dose Groups of Plant Cell Expressed Recombinant Human Glucocerebrosidase (prGCD) in Patients With Gaucher Disease Completed NCT00705939 Phase 3 Taliglucerase alfa
28 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
29 Treatment of Lysosomal and Peroxisomal Inborn Errors of Metabolism by Bone Marrow Transplantation Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
30 A 3-part Study to Evaluate the Efficacy and Safety of Venglustat in Combination With Cerezyme in Adult and Pediatric Patients With Gaucher Disease Type 3 (GD3) With Open-label Long-term Treatment Recruiting NCT02843035 Phase 2, Phase 3 placebo;venglustat (GZ402671);imiglucerase
31 Open Label, Two Cohort (With and Without Imiglucerase), Multicenter Study to Evaluate Pharmacokinetics, Safety, and Efficacy of Eliglustat in Pediatric Patients With Gaucher Disease Type 1 and Type 3 Recruiting NCT03485677 Phase 3 Eliglustat GZ385660;Imiglucerase GZ437843
32 Open Label Interventional Multicenter Phase 3b Study to Evaluate Skeletal Response to Eliglustat in Adult Patients Who Successfully Completed the Phase 2 or Phase 3 Studies Active, not recruiting NCT02536755 Phase 3 eliglustat GZ385660
33 A Multi-national Randomized Double Blinded Phase III Study to Evaluate the Safety and Efficacy of ISU302(Imiglucerase for Injection) or Cerezyme in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
34 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
35 Study of Intra-monocytic Imiglucerase Kinetic and Its Correlation With Clinical and Biological Gaucher Disease Unknown status NCT01951989 Phase 2 Imiglucérase (drug) pharmacokinetics
36 A Randomized, Open-label Study to Assess the Safety and Tolerability of Multiple Dose Levels and Multiple Dosing Regimens of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 Afegostat tartrate
37 A Phase 2, Open-Label, Multi-Center Study Evaluating the Efficacy, Safety and Pharmacokinetics of Genz-112638 in Gaucher Type 1 Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
38 Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
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 An Open-Label Extension of Study TKT025 Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A Enzyme Replacement Therapy Completed NCT00391625 Phase 1, Phase 2 GA-GCB
41 A Randomized, Open-label Study To Assess the Safety and Tolerability of AT2101 in Treatment-naive Adult Patients With Type 1 Gaucher Disease Completed NCT00446550 Phase 2 afegostat tartrate
42 A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
43 A Multi-center, Open-label, Efficacy and Safety Study of Velaglucerase Alfa Enzyme Replacement Therapy in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
44 A Phase 2a, Open-Label, Sequential Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 (Plant Recombinant Human Glucocerebrosidase) in Enzyme Replacement Therapy-Naïve Subjects With Gaucher Disease Completed NCT02107846 Phase 2 PRX-112
45 An Open-Label, Multicenter, Long-Term Extension Study To Assess The Safety, Efficacy, And Pharmacodynamics Of AT2101 In Adult Patients With Type 1 Gaucher Disease Completed NCT00813865 Phase 2 afegostat tartrate
46 Ambroxol Therapy for Patients With Type 1 Gaucher Disease and Suboptimal Response to Enzyme Replacement Therapy Recruiting NCT03950050 Phase 2 Ambroxol
47 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1): Potential Use of Antioxidant/Anti-inflammatory Medications Recruiting NCT02583672 Phase 2 N-acetylcysteine
48 An Open-label, Phase 1/2 Study to Evaluate the Safety and Efficacy of Single-dose PR001A in Infants With Type 2 Gaucher Disease Recruiting NCT04411654 Phase 1, Phase 2 Methylprednisolone;Sirolimus;Prednisone
49 An Adaptive, Open-Label, Multinational Phase 1/2 Study Of The Safety and Efficacy of Ex Vivo, Lentiviral Vector-Mediated Gene Therapy AVR-RD-02 for Subjects With Type 1 Gaucher Disease Recruiting NCT04145037 Phase 1, Phase 2 AVR-RD-02
50 Multicentre Double-blinded, Randomized Placebo-controlled Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 Active, not recruiting NCT03746587 Phase 2 Arimoclomol;Placebo oral capsule

Search NIH Clinical Center for Gaucher's Disease

Inferred drug relations via UMLS 70 / NDF-RT 51 :


alglucerase
eliglustat
imiglucerase
taliglucerase alfa
velaglucerase alfa

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 GBA

Anatomical Context for Gaucher's Disease

MalaCards organs/tissues related to Gaucher's Disease:

40
Bone, Spleen, Liver, Brain, Bone Marrow, Eye, Heart

Publications for Gaucher's Disease

Articles related to Gaucher's Disease:

(show top 50) (show all 4991)
# Title Authors PMID Year
1
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. 25 6 54 61
19286695 2009
2
Non-neuronopathic Gaucher disease due to saposin C deficiency. 61 6 54 25
17919309 2007
3
Gaucher's disease: molecular, genetic and enzymological aspects. 54 6 61 25
9497856 1997
4
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients. 61 25 6
27008851 2016
5
An update of Gaucher mutations distribution in the Ashkenazi Jewish population: prevalence and country of origin of the mutation R496H. 61 6 25
25558695 2014
6
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients. 6 25 61
25127542 2014
7
Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. 61 25 6
24756352 2014
8
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy. 61 6 25
21445609 2011
9
Clinical and genetic characteristics of Korean patients with Gaucher disease. 6 25 61
20729108 2011
10
A monozygotic twin pair with highly discordant Gaucher phenotypes. 61 25 6
21056933 2011
11
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. 25 6 61
19846850 2009
12
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. 61 6 25
19260119 2009
13
LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. 61 6 25
18022370 2007
14
Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain. 61 25 6
17427031 2007
15
Detection of 12 new mutations in Gaucher disease Brazilian patients. 61 25 6
17059888 2006
16
Mutation analysis of Gaucher disease patients in Taiwan: high prevalence of the RecNciI and L444P mutations. 61 6 25
16546416 2006
17
Intrauterine onset of acute neuropathic type 2 Gaucher disease: identification of a novel insertion sequence. 25 61 6
15214004 2004
18
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms. 6 61 25
15146461 2004
19
Perinatal-lethal Gaucher disease. 6 25 61
12838552 2003
20
Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup. 6 25 61
12595585 2003
21
Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease. 6 61 25
12587096 2003
22
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian gaucher patients. 25 61 6
12204005 2002
23
Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. 25 6 61
11359469 2001
24
A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. 61 25 6
11148530 2001
25
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease. 61 6 25
10796875 2000
26
Type 2 Gaucher disease: the collodion baby phenotype revisited. 61 6 25
10685993 2000
27
Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease. 25 6 61
10649495 2000
28
Linkage of the PvuII polymorphism with the common Jewish mutation for Gaucher disease. 25 61 6
1971142 1990
29
Molecular analysis of Turkish Gaucher disease patients: identification of novel mutations in glucocerebrosidase (GBA) gene. 54 61 6
18586596 2008
30
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 6 54 61
18338393 2008
31
Intracellular cholesterol modifies the ERAD of glucocerebrosidase in Gaucher disease patients. 6 54 61
18160322 2008
32
An evolutionary and structure-based docking model for glucocerebrosidase-saposin C and glucocerebrosidase-substrate interactions - relevance for Gaucher disease. 54 61 6
17803231 2008
33
Analysis of nonsense-mediated mRNA decay in mutant alleles identified in Spanish Gaucher disease patients. 61 54 6
16326120 2006
34
A mutation within the saposin D domain in a Gaucher disease patient with normal glucocerebrosidase activity. 61 54 6
15856305 2005
35
Expression and functional characterization of mutated glucocerebrosidase alleles causing Gaucher disease in Spanish patients. 6 61 54
14757438 2004
36
The identification of eight novel glucocerebrosidase (GBA) mutations in patients with Gaucher disease. 61 54 6
11933202 2002
37
The E326K mutation and Gaucher disease: mutation or polymorphism? 61 6 54
11903352 2002
38
Novel point mutation (W184R) in neonatal type 2 Gaucher disease. 61 54 6
10679038 2000
39
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. 6 54 61
9375849 1997
40
Gaucher disease: functional expression of the normal glucocerebrosidase and Gaucher T1366G and G1604A alleles in Baculovirus-transfected Spodoptera frugiperda cells. 61 54 6
9240741 1996
41
Glucocerebrosidase mutations in Gaucher disease. 6 61 54
8790604 1994
42
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression. 6 61 54
8294487 1994
43
Mutations causing Gaucher disease. 54 61 6
8118460 1994
44
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? 6 54 61
8118463 1994
45
Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. 6 54 61
2060627 1991
46
Prevalent and rare mutations among Gaucher patients. 25 6
2269438 1990
47
GBA variation and susceptibility to multiple system atrophy. 6 61
32623306 2020
48
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1. 61 6
31077260 2019
49
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. 61 6
30637984 2019
50
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. 6 61
30764785 2019

Variations for Gaucher's Disease

ClinVar genetic disease variations for Gaucher's Disease:

6 (show top 50) (show all 277)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PSAP NM_002778.4(PSAP):c.1145G>T (p.Cys382Phe) SNV Pathogenic 13364 rs121918105 GRCh37: 10:73579518-73579518
GRCh38: 10:71819761-71819761
2 PSAP NM_002778.4(PSAP):c.1144T>G (p.Cys382Gly) SNV Pathogenic 13370 rs121918108 GRCh37: 10:73579519-73579519
GRCh38: 10:71819762-71819762
3 PSAP NM_002778.4(PSAP):c.1288C>T (p.Gln430Ter) SNV Pathogenic 13371 rs121918109 GRCh37: 10:73579284-73579284
GRCh38: 10:71819527-71819527
4 PSAP NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro) SNV Pathogenic 13372 rs121918110 GRCh37: 10:73579617-73579617
GRCh38: 10:71819860-71819860
5 PSAP NM_002778.4(PSAP):c.1A>T (p.Met1Leu) SNV Pathogenic 13365 rs121918106 GRCh37: 10:73610978-73610978
GRCh38: 10:71851221-71851221
6 LOC106627981 , GBA NM_000157.4(GBA):c.586A>C (p.Lys196Gln) SNV Pathogenic 4300 rs121908297 GRCh37: 1:155208310-155208310
GRCh38: 1:155238519-155238519
7 LOC106627981 , GBA NM_000157.4(GBA):c.983C>T (p.Pro328Leu) SNV Pathogenic 4305 rs121908298 GRCh37: 1:155207148-155207148
GRCh38: 1:155237357-155237357
8 GBA NM_000157.4(GBA):c.73del (p.Leu25fs) Deletion Pathogenic 4307 rs397518433 GRCh37: 1:155210463-155210463
GRCh38: 1:155240672-155240672
9 LOC106627981 , GBA NM_000157.4(GBA):c.481C>T (p.Pro161Ser) SNV Pathogenic 4308 rs121908299 GRCh37: 1:155208415-155208415
GRCh38: 1:155238624-155238624
10 LOC106627981 , GBA NM_000157.4(GBA):c.160G>T (p.Val54Leu) SNV Pathogenic 4313 rs121908302 GRCh37: 1:155209824-155209824
GRCh38: 1:155240033-155240033
11 LOC106627981 , GBA NM_000157.4(GBA):c.763T>G (p.Phe255Val) SNV Pathogenic 4315 rs121908303 GRCh37: 1:155207368-155207368
GRCh38: 1:155237577-155237577
12 LOC106627981 , GBA NM_000157.4(GBA):c.1043C>T (p.Ala348Val) SNV Pathogenic 4316 rs78396650 GRCh37: 1:155206217-155206217
GRCh38: 1:155236426-155236426
13 LOC106627981 , GBA NM_000157.4(GBA):c.1053G>T (p.Trp351Cys) SNV Pathogenic 4317 rs121908304 GRCh37: 1:155206207-155206207
GRCh38: 1:155236416-155236416
14 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>G (p.Arg392Gly) SNV Pathogenic 4323 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
15 LOC106627981 , GBA NM_000157.4(GBA):c.1319C>T (p.Pro440Leu) SNV Pathogenic 4324 rs74598136 GRCh37: 1:155205541-155205541
GRCh38: 1:155235750-155235750
16 LOC106627981 , GBA NM_000157.4(GBA):c.1228C>G (p.Leu410Val) SNV Pathogenic 4332 rs121908314 GRCh37: 1:155205632-155205632
GRCh38: 1:155235841-155235841
17 LOC106627981 , GBA NM_000157.4(GBA):c.999+242C>A SNV Pathogenic 689500 rs1571969643 GRCh37: 1:155206890-155206890
GRCh38: 1:155237099-155237099
18 LOC106627981 , GBA NM_000157.4(GBA):c.1388+2T>C SNV Pathogenic 813335 rs1571965880 GRCh37: 1:155205470-155205470
GRCh38: 1:155235679-155235679
19 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) SNV Pathogenic 813336 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
20 LOC106627981 , GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys) SNV Pathogenic 813337 rs765633380 GRCh37: 1:155207161-155207161
GRCh38: 1:155237370-155237370
21 LOC106627981 , GBA NM_000157.4(GBA):c.526G>A (p.Asp176Asn) SNV Pathogenic 446213 rs1553217946 GRCh37: 1:155208370-155208370
GRCh38: 1:155238579-155238579
22 LOC106627981 , GBA NM_000157.4(GBA):c.1599G>A (p.Trp533Ter) SNV Pathogenic 917862 GRCh37: 1:155204798-155204798
GRCh38: 1:155235007-155235007
23 LOC106627981 , GBA NM_000157.4(GBA):c.222_224del (p.Thr75del) Deletion Pathogenic 642539 rs761621516 GRCh37: 1:155209760-155209762
GRCh38: 1:155239969-155239971
24 LOC106627981 , GBA NM_000157.4(GBA):c.557del (p.Phe186fs) Deletion Pathogenic 869105 GRCh37: 1:155208339-155208339
GRCh38: 1:155238548-155238548
25 LOC106627981 , GBA NM_000157.4(GBA):c.403_404del (p.Leu135fs) Deletion Pathogenic 932298 GRCh37: 1:155209457-155209458
GRCh38: 1:155239666-155239667
26 LOC106627981 , GBA NM_000157.4(GBA):c.1343A>T (p.Asp448Val) SNV Pathogenic 4294 rs77369218 GRCh37: 1:155205517-155205517
GRCh38: 1:155235726-155235726
27 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>C (p.Asn409Thr) SNV Pathogenic 38301 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
28 LOC106627981 , GBA NM_000157.4(GBA):c.1343A>T (p.Asp448Val) SNV Pathogenic 4294 rs77369218 GRCh37: 1:155205517-155205517
GRCh38: 1:155235726-155235726
29 GBA NM_000157.4(GBA):c.93_94insG (p.Gln32fs) Insertion Pathogenic 21073 rs80356760 GRCh37: 1:155210442-155210443
GRCh38: 1:155240651-155240652
30 PSAP NM_002778.4(PSAP):c.1369G>T (p.Glu457Ter) SNV Pathogenic 438801 rs1554879741 GRCh37: 10:73578850-73578850
GRCh38: 10:71819093-71819093
31 LOC106627981 , GBA NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) Deletion Pathogenic 193611 rs80356768 GRCh37: 1:155205541-155205595
GRCh38: 1:155235750-155235804
32 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
33 LOC106627981 , GBA NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) Deletion Pathogenic 193611 rs80356768 GRCh37: 1:155205541-155205595
GRCh38: 1:155235750-155235804
34 LOC106627981 , GBA NM_000157.4(GBA):c.1312G>A (p.Asp438Asn) SNV Pathogenic 496081 rs1553217009 GRCh37: 1:155205548-155205548
GRCh38: 1:155235757-155235757
35 LOC106627981 , GBA NM_000157.4(GBA):c.1029del (p.Lys342_Tyr343insTer) Deletion Pathogenic 496079 rs1553217314 GRCh37: 1:155206231-155206231
GRCh38: 1:155236440-155236440
36 LOC106627981 , GBA NM_000157.4(GBA):c.630del (p.Val211fs) Deletion Pathogenic 496084 rs1553217879 GRCh37: 1:155208056-155208056
GRCh38: 1:155238265-155238265
37 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
38 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
39 LOC106627981 , GBA NM_000157.4(GBA):c.653G>A (p.Trp218Ter) SNV Pathogenic 632834 rs867929413 GRCh37: 1:155208033-155208033
GRCh38: 1:155238242-155238242
40 LOC106627981 , GBA NM_000157.4(GBA):c.762-1G>C SNV Pathogenic 633240 rs1237637353 GRCh37: 1:155207370-155207370
GRCh38: 1:155237579-155237579
41 LOC106627981 , GBA NM_000157.4(GBA):c.1357C>T (p.Gln453Ter) SNV Pathogenic 633241 rs1557901325 GRCh37: 1:155205503-155205503
GRCh38: 1:155235712-155235712
42 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
43 LOC106627981 , GBA NM_000157.4(GBA):c.1184C>T (p.Ser395Phe) SNV Pathogenic 918140 GRCh37: 1:155206076-155206076
GRCh38: 1:155236285-155236285
44 GBA NM_000157.4(GBA):c.108G>A (p.Trp36Ter) SNV Pathogenic 974986 GRCh37: 1:155210428-155210428
GRCh38: 1:155240637-155240637
45 LOC106627981 , GBA NM_000157.4(GBA):c.334C>T (p.Gln112Ter) SNV Pathogenic 984479 GRCh37: 1:155209527-155209527
GRCh38: 1:155239736-155239736
46 LOC106627981 , GBA NM_000157.4(GBA):c.203dup (p.Thr69fs) Duplication Pathogenic 987870 GRCh37: 1:155209780-155209781
GRCh38: 1:155239989-155239990
47 LOC106627981 , GBA NM_000157.4(GBA):c.886C>T (p.Arg296Ter) SNV Pathogenic 558787 rs1553217626 GRCh37: 1:155207245-155207245
GRCh38: 1:155237454-155237454
48 LOC106627981 , GBA NM_000157.4(GBA):c.1342G>C (p.Asp448His) SNV Pathogenic 4293 rs1064651 GRCh37: 1:155205518-155205518
GRCh38: 1:155235727-155235727
49 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
50 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196

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:

36
# Name Kegg Source Accession
1 Other glycan degradation hsa00511
2 Sphingolipid metabolism hsa00600
3 Lysosome hsa04142

GO Terms for Gaucher's Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.03 PSAP PKLR LAMP2 LAMP1 HEXA GBA
2 extracellular space GO:0005615 9.91 PSAP LAMP2 GBA CTSD CHIT1 CHIA
3 endosome membrane GO:0010008 9.71 MRC1 LAMP2 LAMP1 CTSD
4 lysosomal membrane GO:0005765 9.55 PSAP LAMP2 LAMP1 GBA CTSD
5 azurophil granule membrane GO:0035577 9.5 PSAP LAMP2 LAMP1
6 autolysosome GO:0044754 9.37 LAMP2 LAMP1
7 lysosomal lumen GO:0043202 9.35 PSAP LAMP2 HEXA GBA CTSD
8 lysosome GO:0005764 9.32 PSAP LAMP2 LAMP1 HEXA GBA CTSD

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.83 PSAP LAMP2 LAMP1 CTSD CHIT1
2 carbohydrate metabolic process GO:0005975 9.76 PKLR HEXA CHIT1 CHIA
3 sphingolipid metabolic process GO:0006665 9.54 UGCG PSAP GBA
4 determination of adult lifespan GO:0008340 9.48 MSH6 GBA
5 establishment of protein localization to organelle GO:0072594 9.4 LAMP2 LAMP1
6 metabolic process GO:0008152 9.35 PKLR HEXA GBA CHIT1 CHIA
7 polysaccharide digestion GO:0044245 9.32 CHIT1 CHIA
8 chitin catabolic process GO:0006032 9.26 CHIT1 CHIA
9 polysaccharide catabolic process GO:0000272 9.16 CHIT1 CHIA
10 glycosphingolipid metabolic process GO:0006687 8.92 UGCG PSAP HEXA GBA

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.92 HEXA GBA CTSD CHIT1 CHIA ADA
2 chitin binding GO:0008061 9.26 CHIT1 CHIA
3 chitinase activity GO:0004568 9.16 CHIT1 CHIA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.13 HEXA CHIT1 CHIA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 8.92 HEXA GBA CHIT1 CHIA

Sources for Gaucher's Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....