GD
MCID: GCH015
MIFTS: 61

Gaucher Disease, Type I (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 Disease, Type I

MalaCards integrated aliases for Gaucher Disease, Type I:

Name: Gaucher Disease, Type I 57 55
Acid Beta-Glucosidase Deficiency 57 12 53 75
Glucocerebrosidase Deficiency 57 12 53 75
Gba Deficiency 57 12 53 75
Gaucher Disease, Noncerebral Juvenile 57 12 53
Gaucher's Disease, Type 1 29 6 40
Gaucher Disease Type 1 76 53 59
Gd I 57 12 75
Gaucher's Disease Type I 12 15
Gaucher Disease 75 73
Adult Non-Neuronopathic Gaucher Disease 75
Non-Cerebral Juvenile Gaucher Disease 59
Noncerebral Juvenile Gaucher Disease 75
Gaucher Disease, Type 1 73
Gaucher Disease Type I 75
Glucosidase, Acid Beta 13
Type 1 Gaucher Disease 55
Gaucher Disease 1 75
Gd 1 53
Gd1 75
Gd 75

Characteristics:

Orphanet epidemiological data:

59
gaucher disease type 1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
age at onset most often in childhood (first decade)
onset and diagnosis may occur later (after age 20 years)
highly variable phenotype, some adults may be asymptomatic
increased frequency in ashkenazi jews (carrier frequency 1 in 14)


HPO:

32
gaucher disease, type i:
Mortality/Aging death in infancy
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type I

NINDS : 54 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.  

MalaCards based summary : Gaucher Disease, Type I, also known as acid beta-glucosidase deficiency, is related to gaucher disease, type ii and gaucher disease, type iii, and has symptoms including dyspnea and bone pain. An important gene associated with Gaucher Disease, Type I is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Vitamin D and Ergocalciferol have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain, and related phenotypes are osteoarthritis and osteopenia

Disease Ontology : 12 A Gaucher's disease characterized by absence of primary central nervous system involvement that has material basis in a mutation of GBA on chromosome 1q22.

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 : 53 Gaucher disease type 1 (GD1) is the most common form of Gaucher disease. Like other types of Gaucher disease, GD1 is caused when not enough glucocerebrosidase (GBA) is made. GBA is an important enzyme that breaks down a fatty chemical called glucocerebroside. Because the body cannot break down this chemical, fat-filled Gaucher cells build up in areas like the spleen, liver and bone marrow. Unlike type 2 and 3, GD1 does not usually involve the brain and spinal cord (central nervous system). Symptoms of GD1 include enlarged spleen and liver, low blood cell counts, bleeding problems and bone disease. The symptoms can range from mild to severe and may appear anytime from childhood to adulthood. Gaucher disease is caused by changes (mutations) in the GBA gene and is inherited in an autosomal recessive manner. Diagnosis is suspected by clinical symptoms and confirmed by measuring GBA enzyme activity or genetic testing. Treatments may include enzyme replacement therapy or medications that affect the making of fatty molecules (substrate reduction therapy).

OMIM : 57 Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase. As a result of this deficiency, there is intracellular accumulation of glucosylceramide (GlcCer, glucosylcerebroside) primarily within cells of mononuclear phagocyte origin, which are the characteristic 'Gaucher cells' identified in most tissues (Jmoudiak and Futerman, 2005). Gaucher disease is classically categorized phenotypically into 3 main subtypes: nonneuronopathic type I, acute neuronopathic type II (230900), and subacute neuronopathic type III (231000). Type I is the most common form of Gaucher disease and lacks primary central nervous system involvement. Types II and III have central nervous system involvement and neurologic manifestations (Knudson and Kaplan, 1962; Jmoudiak and Futerman, 2005). All 3 forms of Gaucher disease are caused by mutation in the GBA gene. There are 2 additional phenotypes which may be distinguished: perinatal lethal Gaucher disease (608013), which is a severe form of type II, and Gaucher disease type IIIC (231005), which also has cardiovascular calcifications. See also 610539 for a form of atypical Gaucher disease caused by mutation in the gene encoding saposin C (PSAP; 176801), which is an activator of beta-glucosidase. (230800)

CDC : 3 0 0 0 0 0 0

UniProtKB/Swiss-Prot : 75 Gaucher disease: A lysosomal storage disease due to deficient activity of beta- glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. Gaucher disease 1: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.

Wikipedia : 76 Gaucher''s disease or Gaucher disease (/ɡo�?�?�?eɪ/) (GD) is a genetic disorder in which... more...

Related Diseases for Gaucher Disease, Type I

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 Disease, Type I via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 266)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type ii 34.4 GBA PSAP
2 gaucher disease, type iii 34.4 GBA PSAP
3 gaucher disease, perinatal lethal 34.2 GBA HEXA
4 sphingolipidosis 31.8 SCARB2 PSAP HEXA GBA3 GBA
5 splenomegaly 30.6 CHIT1 GBA
6 chitotriosidase deficiency 30.6 CHIT1 GBA
7 niemann-pick disease 30.3 CHIT1 GBA PSAP
8 gangliosidosis gm1 30.0 HEXA PSAP
9 krabbe disease 29.9 CHIT1 PSAP
10 gaucher's disease 29.6 THBS3 SCARB2 PSAP PKLR GBA3 GBA
11 tay-sachs disease 29.6 HEXA PSAP
12 lipid storage disease 29.3 GBA GBA3 HEXA PSAP
13 gaucher disease, atypical, due to saposin c deficiency 12.6
14 gaucher disease, type iiic 12.5
15 pseudo-gaucher disease 12.3
16 gaucher disease - ophthalmoplegia - cardiovascular calcification 12.3
17 gardner-diamond syndrome 11.8
18 littoral cell angioma of the spleen 11.3
19 46,xx sex reversal 1 11.0
20 autoimmune thyroid disease 2 11.0
21 grover's disease 11.0
22 ocular motor apraxia 11.0
23 sea-blue histiocyte disease 11.0
24 lipid metabolism disorder 11.0
25 herpes simplex 10.5
26 horns in sheep 10.4
27 bone disease 10.3
28 hand, foot and mouth disease 10.2 GBA SCARB2
29 thrombocytopenia 10.2
30 adenosine deaminase deficiency 10.2 ADA GBA
31 liver cirrhosis 10.2
32 hemolytic anemia 10.1
33 congenital nonspherocytic hemolytic anemia 10.1
34 adenoma 10.1
35 myeloma, multiple 10.1
36 hematopoietic stem cell transplantation 10.1
37 hemangioma 10.1
38 hepatocellular adenoma 10.1
39 graves' disease 10.1
40 esterase b 10.1
41 parkinson disease, late-onset 10.1
42 hydrocephalus 10.1
43 osteonecrosis 10.1
44 cholelithiasis 10.1
45 protein-losing enteropathy 10.1
46 nephrogenic systemic fibrosis 10.1
47 nonalcoholic steatohepatitis 10.1
48 internuclear ophthalmoplegia 10.0 GBA HEXA
49 sandhoff disease 10.0 HEXA UGCG
50 fabry disease 10.0

Graphical network of the top 20 diseases related to Gaucher Disease, Type I:



Diseases related to Gaucher Disease, Type I

Symptoms & Phenotypes for Gaucher Disease, Type I

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Respiratory Lung:
dyspnea
pulmonary infiltrates, diffuse (less than 5% of patients)
interstitial lung disease
restrictive impairment

Head And Neck Nose:
epistaxis

Cardiovascular Vascular:
pulmonary hypertension
increased retinal vascular permeability

Skeletal Limbs:
avascular necrosis of femoral head
erlenmeyer flask' deformity of the femurs

Skeletal Spine:
vertebral compression

Laboratory Abnormalities:
acid beta-glucosidase deficiency
increased bone serum acid phosphatase

Abdomen Liver:
hepatomegaly

Hematology:
anemia
pancytopenia
thrombocytopenia
hypersplenism
gaucher cells in the bone marrow

Skeletal:
bone pain
pathologic fractures
osteolytic lesions
osteonecrosis
bone crises

Skin Nails Hair Skin:
hyperpigmentation

Head And Neck Eyes:
brown accumulation of gaucher cells at corneoscleral limbus
white deposits in corneal epithelium, anterior chamber angle, ciliary body, and pupillary margin
perimacular grayness
macular atrophy
increased retinal vascular permeability

Neoplasia:
increased risk for multiple myeloma
increased risk for monoclonal gammopathy


Clinical features from OMIM:

230800

Human phenotypes related to Gaucher Disease, Type I:

59 32 (show top 50) (show all 83)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
2 osteopenia 59 32 frequent (33%) Very frequent (99-80%) HP:0000938
3 kyphosis 59 32 frequent (33%) Frequent (79-30%) HP:0002808
4 splenomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001744
5 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
6 delayed skeletal maturation 59 32 frequent (33%) Very frequent (99-80%) HP:0002750
7 aseptic necrosis 59 32 frequent (33%) Very frequent (99-80%) HP:0010885
8 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
9 delayed puberty 59 32 frequent (33%) Very frequent (99-80%) HP:0000823
10 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
11 anemia 59 32 hallmark (90%) Frequent (79-30%) HP:0001903
12 pancytopenia 59 32 occasional (7.5%) Frequent (79-30%) HP:0001876
13 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
14 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
15 pathologic fracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0002756
16 cirrhosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001394
17 thrombocytopenia 59 32 frequent (33%) Very frequent (99-80%) HP:0001873
18 hypersplenism 59 32 hallmark (90%) Very frequent (99-80%) HP:0001971
19 anorexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002039
20 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
21 abnormal myocardium morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0001637
22 bruising susceptibility 59 32 frequent (33%) Frequent (79-30%) HP:0000978
23 bone pain 59 32 frequent (33%) Very frequent (99-80%) HP:0002653
24 gingival bleeding 59 32 occasional (7.5%) Frequent (79-30%) HP:0000225
25 increased bone mineral density 59 32 occasional (7.5%) Very frequent (99-80%) HP:0011001
26 osteolysis 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002797
27 edema of the lower limbs 59 32 occasional (7.5%) Occasional (29-5%) HP:0010741
28 increased antibody level in blood 59 32 occasional (7.5%) Occasional (29-5%) HP:0010702
29 leukopenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001882
30 interstitial pulmonary abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0006530
31 pericardial effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0001698
32 vertebral compression fractures 59 32 occasional (7.5%) Occasional (29-5%) HP:0002953
33 biliary tract obstruction 59 32 occasional (7.5%) Occasional (29-5%) HP:0005230
34 joint dislocation 32 frequent (33%) HP:0001373
35 hydrocephalus 32 occasional (7.5%) HP:0000238
36 depressivity 32 frequent (33%) HP:0000716
37 hypertension 32 HP:0000822
38 ataxia 32 frequent (33%) HP:0001251
39 muscular hypotonia 32 occasional (7.5%) HP:0001252
40 tremor 32 occasional (7.5%) HP:0001337
41 dysphagia 32 frequent (33%) HP:0002015
42 respiratory insufficiency 32 occasional (7.5%) HP:0002093
43 developmental regression 32 frequent (33%) HP:0002376
44 hearing impairment 32 occasional (7.5%) HP:0000365
45 corneal opacity 32 occasional (7.5%) HP:0007957
46 joint stiffness 32 occasional (7.5%) HP:0001387
47 short stature 32 occasional (7.5%) HP:0004322
48 ichthyosis 32 occasional (7.5%) HP:0008064
49 feeding difficulties in infancy 32 frequent (33%) HP:0008872
50 retinopathy 32 occasional (7.5%) HP:0000488

UMLS symptoms related to Gaucher Disease, Type I:


dyspnea, bone pain

Drugs & Therapeutics for Gaucher Disease, Type I

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

(show all 48)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3 Calciferol Phase 4,Phase 2
4 Vitamins Phase 4,Phase 2
5 Bone Density Conservation Agents Phase 4
6 Ergocalciferols Phase 4
7 Micronutrients Phase 4
8 Vitamin D2 Phase 4
9 Trace Elements Phase 4
10
Miglustat Approved Phase 3 72599-27-0 51634
11 tannic acid Approved Phase 3
12
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
13
Eliglustat Approved Phase 3,Phase 2,Not Applicable 491833-29-5 23652731
14
1-Deoxynojirimycin Experimental, Investigational Phase 3 19130-96-2 1374
15 Anti-HIV Agents Phase 3
16 Antiviral Agents Phase 3,Phase 2
17 Hypoglycemic Agents Phase 3
18 Glycoside Hydrolase Inhibitors Phase 3
19 Anti-Infective Agents Phase 3,Phase 2
20 Anti-Retroviral Agents Phase 3
21 Cardiac Glycosides Phase 3
22 Pharmaceutical Solutions Phase 3
23
Coal tar Approved Phase 2 8007-45-2
24
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
25
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
26 Antioxidants Phase 2
27 Anti-Inflammatory Agents Phase 2
28 N-monoacetylcystine Phase 2
29 Free Radical Scavengers Phase 2
30 Expectorants Phase 2
31 Respiratory System Agents Phase 2
32 Protective Agents Phase 2
33 Antidotes Phase 2
34
Dopamine Approved Not Applicable 51-61-6, 62-31-7 681
35
Methamphetamine Approved, Illicit Not Applicable 537-46-2 10836
36 Autoantibodies
37 Antibodies
38 Immunoglobulins
39 Adrenergic Agents Not Applicable
40 Neurotransmitter Uptake Inhibitors Not Applicable
41 Dopamine Uptake Inhibitors Not Applicable
42 Sympathomimetics Not Applicable
43 Dopamine Agents Not Applicable
44 Central Nervous System Stimulants Not Applicable
45 Peripheral Nervous System Agents Not Applicable
46 Neurotransmitter Agents Not Applicable
47 Autonomic Agents Not Applicable
48 Grapefruit Seed Extract Not Applicable

Interventional clinical trials:

(show all 45)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
2 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4 Cerezyme (imiglucerase for injection)
3 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
4 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Recruiting NCT03702361 Phase 4 VPRIV
5 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
6 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
7 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
8 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
9 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
10 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, 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 Eliglustat tartrate
12 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
13 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
14 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
15 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
16 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
17 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
18 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
19 Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat GZ385660
20 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
21 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
22 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
23 A Study of Oral AT2101 (Afegostat Tartrate) in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2 afegostat tartrate
24 A Long-Term Extension Study of AT2101 (Afegostat Tartrate) in Type 1 Gaucher Patients Completed NCT00813865 Phase 2 afegostat tartrate
25 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
26 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
27 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
28 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2 N-acetylcysteine
29 Study of Arimoclomol in Patients Diagnosed With Gaucher Disease Type 1 or 3 Recruiting NCT03746587 Phase 2 Arimoclomol;Placebo oral capsule
30 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
31 A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101 Terminated NCT00875160 Phase 1 AT2101
32 Thrombocytopathy in Gaucher Disease Patients Unknown status NCT01344096
33 Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease Approved for marketing NCT00954460 velaglucerase alfa
34 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896
35 Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) Completed NCT01136304 Imiglucerase
36 Auto-antibodies Prevalence and CD1 Role in Gaucher Disease Completed NCT02650219
37 Comparison of BMD Measurement by DEXA to BeamMed Speed-of-Sound Measurement at Forearm in Patients With Gaucher Disease Completed NCT02067247 Not Applicable
38 Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease Completed NCT00351156
39 Retrospective and Prospective Observational Study of MRI Changes in Bone and Visceral Lesions of Patients With Type 1 Gaucher Disease Treated With VPRIV® (Velaglucerase Alfa) Recruiting NCT03333447
40 LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
41 International Collaborative Gaucher Group (ICGG) Gaucher Registry Recruiting NCT00358943
42 Gaucherite - A Study to Stratify Gaucher Disease Recruiting NCT03240653
43 Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study Active, not recruiting NCT02437396
44 Eliglustat on Gaucher Disease Type IIIB Enrolling by invitation NCT03519646 Not Applicable Eliglustat
45 Clinical Audit of Managment of Gausher Disease in Children Not yet recruiting NCT03590548

Search NIH Clinical Center for Gaucher Disease, Type I

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Genetic Tests for Gaucher Disease, Type I

Genetic tests related to Gaucher Disease, Type I:

# Genetic test Affiliating Genes
1 Gaucher's Disease, Type 1 29 GBA

Anatomical Context for Gaucher Disease, Type I

MalaCards organs/tissues related to Gaucher Disease, Type I:

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

Publications for Gaucher Disease, Type I

Articles related to Gaucher Disease, Type I:

(show all 17)
# Title Authors Year
1
Relationship Between Glucocerebrosidase Activity and Clinical Response to Enzyme Replacement Therapy in Patients With Gaucher Disease Type I. ( 29418074 )
2018
2
Long-term response in biochemical markers of bone turnover during enzyme replacement therapy in a case-series of patients with Gaucher disease type I from Northern Greece. ( 28416913 )
2016
3
Oxidative stress parameters of Gaucher disease type I patients. ( 26937402 )
2015
4
Ghrelin, leptin and adiponectin levels in Gaucher disease type I patients on enzyme replacement therapy. ( 25239509 )
2015
5
Leptin levels in Gaucher disease type I patients: A methodological approach. ( 25591980 )
2015
6
Reply to Letter to the Editor - Leptin levels in Gaucher disease type I patients: A methodological approach. ( 25600498 )
2015
7
Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review. ( 23570288 )
2013
8
Vertebral fractures in Gaucher disease type I: data from the French "Observatoire" on Gaucher disease (FROG). ( 20683713 )
2011
9
Gaucher disease type I: assessment of basal metabolic rate in patients from southern Brazil. ( 21075022 )
2011
10
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? ( 20049531 )
2010
11
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process. ( 19557545 )
2009
12
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. ( 18226995 )
2008
13
Immunoglobulin and free light chain abnormalities in Gaucher disease type I: data from an adult cohort of 63 patients and review of the literature. ( 18274746 )
2008
14
Outcome of enzyme replacement therapy in patients with Gaucher disease type I. The Romanian experience. ( 17703370 )
2007
15
Hypermetabolism in Gaucher disease type I is not associated with altered thyroid hormone levels. ( 17912612 )
2007
16
Viable mouse models of acid beta-glucosidase deficiency: the defect in Gaucher disease. ( 14578207 )
2003
17
Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas. ( 11592516 )
2001

Variations for Gaucher Disease, Type I

UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type I:

75 (show top 50) (show all 142)
# Symbol AA change Variation ID SNP ID
1 GBA p.Val54Leu VAR_003255 rs121908302
2 GBA p.Phe76Val VAR_003256
3 GBA p.Thr82Ile VAR_003257 rs1141811
4 GBA p.Gly85Glu VAR_003258 rs77829017
5 GBA p.Arg87Trp VAR_003259 rs1141814
6 GBA p.Lys118Asn VAR_003260 rs121908312
7 GBA p.Gly152Glu VAR_003261
8 GBA p.Ile158Thr VAR_003262
9 GBA p.Arg159Gln VAR_003263 rs79653797
10 GBA p.Arg159Trp VAR_003264 rs439898
11 GBA p.Pro161Ser VAR_003265 rs121908299
12 GBA p.Thr173Pro VAR_003266 rs144190990
13 GBA p.Asp179His VAR_003267 rs147138516
14 GBA p.Lys196Gln VAR_003268 rs121908297
15 GBA p.Arg209Pro VAR_003269
16 GBA p.Ala215Asp VAR_003270
17 GBA p.Pro217Ser VAR_003271
18 GBA p.Pro221Thr VAR_003272 rs866075757
19 GBA p.Trp223Arg VAR_003273 rs61748906
20 GBA p.Asn227Ser VAR_003274 rs364897
21 GBA p.Asn227Lys VAR_003275 rs381418
22 GBA p.Val230Gly VAR_003276 rs381427
23 GBA p.Gly234Glu VAR_003277 rs74462743
24 GBA p.Ser235Pro VAR_003278 rs1064644
25 GBA p.Gly241Arg VAR_003279 rs409652
26 GBA p.Tyr251His VAR_003280 rs121908300
27 GBA p.Phe252Ile VAR_003281 rs381737
28 GBA p.Phe255Tyr VAR_003282 rs74500255
29 GBA p.Ser276Pro VAR_003283
30 GBA p.Arg296Gln VAR_003284 rs78973108
31 GBA p.Pro305Arg VAR_003285 rs79215220
32 GBA p.Arg324Cys VAR_003286 rs765633380
33 GBA p.Pro328Leu VAR_003287 rs121908298
34 GBA p.Lys342Ile VAR_003288 rs77714449
35 GBA p.Ala348Val VAR_003289 rs78396650
36 GBA p.Trp351Cys VAR_003290 rs121908304
37 GBA p.Tyr352His VAR_003291
38 GBA p.Asp354His VAR_003292 rs398123526
39 GBA p.Ala357Asp VAR_003293 rs78188205
40 GBA p.Thr362Ile VAR_003294 rs76539814
41 GBA p.Gly364Arg VAR_003296 rs121908305
42 GBA p.Glu365Lys VAR_003297 rs2230288
43 GBA p.Cys381Gly VAR_003298 rs121908306
44 GBA p.Arg398Gln VAR_003299 rs74979486
45 GBA p.Ser403Thr VAR_003300 rs121908307
46 GBA p.Thr408Met VAR_003301 rs75548401
47 GBA p.Asn409Ser VAR_003302 rs76763715
48 GBA p.Gly416Ser VAR_003303 rs121908311
49 GBA p.Trp417Gly VAR_003304
50 GBA p.Asp419Ala VAR_003305 rs77284004

ClinVar genetic disease variations for Gaucher Disease, Type I:

6 (show top 50) (show all 150)
# 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.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 GRCh37 Chromosome 1, 155209730: 155209730
16 GBA NM_001005741.2(GBA): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 GRCh38 Chromosome 1, 155239939: 155239939
17 GBA NM_001005741.2(GBA): c.764T> A (p.Phe255Tyr) single nucleotide variant Likely pathogenic rs74500255 GRCh37 Chromosome 1, 155207367: 155207367
18 GBA NM_001005741.2(GBA): c.764T> A (p.Phe255Tyr) single nucleotide variant Likely pathogenic rs74500255 GRCh38 Chromosome 1, 155237576: 155237576
19 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Conflicting interpretations of pathogenicity rs147138516 GRCh37 Chromosome 1, 155208361: 155208361
20 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Conflicting interpretations of pathogenicity rs147138516 GRCh38 Chromosome 1, 155238570: 155238570
21 GBA NM_001005741.2(GBA): c.586A> C (p.Lys196Gln) single nucleotide variant Pathogenic rs121908297 GRCh37 Chromosome 1, 155208310: 155208310
22 GBA NM_001005741.2(GBA): c.586A> C (p.Lys196Gln) single nucleotide variant Pathogenic rs121908297 GRCh38 Chromosome 1, 155238519: 155238519
23 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
24 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh38 Chromosome 1, 155238141: 155238141
25 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh37 Chromosome 1, 155210452: 155210452
26 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh38 Chromosome 1, 155240661: 155240661
27 GBA NM_001005741.2(GBA): c.983C> T (p.Pro328Leu) single nucleotide variant Pathogenic rs121908298 GRCh37 Chromosome 1, 155207148: 155207148
28 GBA NM_001005741.2(GBA): c.983C> T (p.Pro328Leu) single nucleotide variant Pathogenic rs121908298 GRCh38 Chromosome 1, 155237357: 155237357
29 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
30 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh38 Chromosome 1, 155236384: 155236384
31 GBA NM_001005741.2(GBA): c.72delC (p.Leu25Serfs) deletion Pathogenic rs397518433 GRCh37 Chromosome 1, 155210464: 155210464
32 GBA NM_001005741.2(GBA): c.72delC (p.Leu25Serfs) deletion Pathogenic rs397518433 GRCh38 Chromosome 1, 155240673: 155240673
33 GBA NM_001005741.2(GBA): c.481C> T (p.Pro161Ser) single nucleotide variant Pathogenic rs121908299 GRCh37 Chromosome 1, 155208415: 155208415
34 GBA NM_001005741.2(GBA): c.481C> T (p.Pro161Ser) single nucleotide variant Pathogenic rs121908299 GRCh38 Chromosome 1, 155238624: 155238624
35 GBA NM_001005741.2(GBA): c.751T> C (p.Tyr251His) single nucleotide variant Pathogenic rs121908300 GRCh37 Chromosome 1, 155207935: 155207935
36 GBA NM_001005741.2(GBA): c.751T> C (p.Tyr251His) single nucleotide variant Pathogenic rs121908300 GRCh38 Chromosome 1, 155238144: 155238144
37 GBA NM_001005741.2(GBA): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic rs121908301 GRCh37 Chromosome 1, 155204848: 155204848
38 GBA NM_001005741.2(GBA): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic rs121908301 GRCh38 Chromosome 1, 155235057: 155235057
39 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
40 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh38 Chromosome 1, 155235002: 155235002
41 GBA NM_001005741.2(GBA): c.160G> T (p.Val54Leu) single nucleotide variant Pathogenic rs121908302 GRCh37 Chromosome 1, 155209824: 155209824
42 GBA NM_001005741.2(GBA): c.160G> T (p.Val54Leu) single nucleotide variant Pathogenic rs121908302 GRCh38 Chromosome 1, 155240033: 155240033
43 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
44 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh38 Chromosome 1, 155238215: 155238215
45 GBA NM_001005741.2(GBA): c.763T> G (p.Phe255Val) single nucleotide variant Pathogenic rs121908303 GRCh37 Chromosome 1, 155207368: 155207368
46 GBA NM_001005741.2(GBA): c.763T> G (p.Phe255Val) single nucleotide variant Pathogenic rs121908303 GRCh38 Chromosome 1, 155237577: 155237577
47 GBA NM_001005741.2(GBA): c.1043C> T (p.Ala348Val) single nucleotide variant Pathogenic rs78396650 GRCh37 Chromosome 1, 155206217: 155206217
48 GBA NM_001005741.2(GBA): c.1043C> T (p.Ala348Val) single nucleotide variant Pathogenic rs78396650 GRCh38 Chromosome 1, 155236426: 155236426
49 GBA NM_001005741.2(GBA): c.1053G> T (p.Trp351Cys) single nucleotide variant Pathogenic rs121908304 GRCh37 Chromosome 1, 155206207: 155206207
50 GBA NM_001005741.2(GBA): c.1053G> T (p.Trp351Cys) single nucleotide variant Pathogenic rs121908304 GRCh38 Chromosome 1, 155236416: 155236416

Expression for Gaucher Disease, Type I

Search GEO for disease gene expression data for Gaucher Disease, Type I.

Pathways for Gaucher Disease, Type I

GO Terms for Gaucher Disease, Type I

Cellular components related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.7 ADA CHIA CHIT1 GBA GH1 PSAP
2 lysosomal lumen GO:0043202 9.26 GBA HEXA PSAP SCARB2
3 lysosome GO:0005764 9.17 ACP5 ADA CHIT1 GBA HEXA PSAP

Biological processes related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of inflammatory response GO:0050728 9.65 ACP5 ADA GBA
2 sphingolipid metabolic process GO:0006665 9.58 GBA PSAP UGCG
3 carbohydrate metabolic process GO:0005975 9.55 CHIA CHIT1 GBA3 HEXA PKLR
4 polysaccharide digestion GO:0044245 9.46 CHIA CHIT1
5 chitin catabolic process GO:0006032 9.43 CHIA CHIT1
6 production of molecular mediator involved in inflammatory response GO:0002532 9.37 CHIA SCARB2
7 metabolic process GO:0008152 9.35 CHIA CHIT1 GBA HEXA PKLR
8 chitin metabolic process GO:0006030 9.32 CHIA CHIT1
9 polysaccharide catabolic process GO:0000272 9.26 CHIA CHIT1
10 glycosphingolipid metabolic process GO:0006687 8.92 GBA3 HEXA PSAP UGCG

Molecular functions related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.88 ACP5 ADA CHIA CHIT1 GBA HEXA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.37 CHIA CHIT1
3 chitin binding GO:0008061 9.32 CHIA CHIT1
4 beta-galactosidase activity GO:0004565 9.26 GBA3 PSAP
5 chitinase activity GO:0004568 9.16 CHIA CHIT1
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 Disease, Type I

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
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51 NDF-RT
54 NINDS
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
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74 UMLS via Orphanet
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