MCID: GCH015
MIFTS: 57

Gaucher Disease, Type I

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Cardiovascular 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 Disease 75 73
Adult Non-Neuronopathic Gaucher Disease 75
Non-Cerebral Juvenile Gaucher Disease 59
Noncerebral Juvenile Gaucher Disease 75
Gaucher's Disease Type I 12
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:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Gaucher Disease, Type I

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)

MalaCards based summary : Gaucher Disease, Type I, also known as acid beta-glucosidase deficiency, is related to gaucher disease, type iii and gaucher disease, type ii, 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 Sphingolipid metabolism and Lysosome. The drugs Liraglutide and Vitamin D have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and liver, and related phenotypes are osteoarthritis and osteopenia

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.

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).

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.

Wikipedia : 76 Gaucher\'s disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside... more...

Related Diseases for Gaucher Disease, Type I

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
AbdomenSpleen:
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 all 42)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteoarthritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0002758
2 osteopenia 59 32 hallmark (90%) 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 hallmark (90%) Very frequent (99-80%) HP:0002750
7 aseptic necrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010885
8 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
9 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
10 ascites 59 32 occasional (7.5%) Occasional (29-5%) HP:0001541
11 anemia 59 32 frequent (33%) Frequent (79-30%) HP:0001903
12 pancytopenia 59 32 frequent (33%) 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 hallmark (90%) 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 hallmark (90%) Very frequent (99-80%) HP:0002653
24 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
25 increased bone mineral density 59 32 hallmark (90%) Very frequent (99-80%) HP:0011001
26 osteolysis 59 32 hallmark (90%) 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 abnormality of the eye 32 HP:0000478
35 dyspnea 32 HP:0002094
36 growth delay 59 Very frequent (99-80%)
37 epistaxis 32 HP:0000421
38 pulmonary infiltrates 32 occasional (7.5%) HP:0002113
39 hyperpigmentation of the skin 32 HP:0000953
40 multiple myeloma 32 HP:0006775
41 macular atrophy 32 HP:0007401
42 erlenmeyer flask deformity of the femurs 32 HP:0004975

UMLS symptoms related to Gaucher Disease, Type I:


dyspnea, bone pain

MGI Mouse Phenotypes related to Gaucher Disease, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 PSAP SCARB2 UGCG ADA

Drugs & Therapeutics for Gaucher Disease, Type I

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

(show top 50) (show all 91)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Liraglutide Approved Phase 4 204656-20-2 44147092
2
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
3 Bone Density Conservation Agents Phase 4,Phase 2
4 Micronutrients Phase 4,Phase 2
5 Trace Elements Phase 4,Phase 2
6 Vitamins Phase 4,Phase 2
7 Antibodies Phase 4
8 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Not Applicable
9 Immunoglobulins Phase 4
10 glucagon Phase 4
11 Glucagon-Like Peptide 1 Phase 4
12 Hormone Antagonists Phase 4
13 Hormones Phase 4
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
15 Incretins Phase 4
16
Miglustat Approved Phase 3,Phase 2,Not Applicable 72599-27-0 51634
17
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
18
Eliglustat Approved Phase 3,Phase 2,Phase 1 491833-29-5 23652731
19
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
20
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
21
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
22
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
23 tannic acid Approved, Nutraceutical Phase 3
24
1-Deoxynojirimycin Experimental Phase 3,Phase 2,Not Applicable 19130-96-2 1374
25 Anti-HIV Agents Phase 3,Phase 2,Not Applicable
26 Anti-Infective Agents Phase 3,Phase 2,Phase 1,Not Applicable
27 Anti-Retroviral Agents Phase 3,Phase 2,Not Applicable
28 Antiviral Agents Phase 3,Phase 2,Phase 1,Not Applicable
29 Cardiac Glycosides Phase 3,Phase 2,Not Applicable
30 Glycoside Hydrolase Inhibitors Phase 3,Phase 2,Not Applicable
31 Alkylating Agents Phase 2, Phase 3
32 Antilymphocyte Serum Phase 2, Phase 3
33 Antineoplastic Agents, Alkylating Phase 2, Phase 3
34 Antirheumatic Agents Phase 2, Phase 3
35 Immunosuppressive Agents Phase 2, Phase 3
36 Methylprednisolone acetate Phase 2, Phase 3
37 Methylprednisolone Hemisuccinate Phase 2, Phase 3
38 Prednisolone acetate Phase 2, Phase 3
39 Prednisolone hemisuccinate Phase 2, Phase 3
40 Prednisolone phosphate Phase 2, Phase 3
41
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
42
Calcium Carbonate Approved, Investigational Phase 2 471-34-1
43
Acetylcysteine Approved, Investigational Phase 2,Phase 1 616-91-1 12035
44
alemtuzumab Approved, Investigational Phase 2 216503-57-0
45
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
46
Hydroxyurea Approved Phase 2 127-07-1 3657
47
Melphalan Approved Phase 2 148-82-3 4053 460612
48
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
49
Ambroxol Approved, Investigational Phase 1, Phase 2 18683-91-5
50
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453

Interventional clinical trials:

(show top 50) (show all 100)
# 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 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
4 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 Velaglucerase alfa
5 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
6 Antigen-Lipid-Driven Monoclonal Gammopathies Targeting Epicardial Fat Not yet recruiting NCT02920190 Phase 4 Liraglutide
7 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
8 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
9 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
10 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
11 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
12 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
13 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
14 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
15 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
16 Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
17 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
18 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
19 A Multicenter Extension Study of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01411228 Phase 3 Taliglucerase alfa
20 A Multicenter Extension Study of Taliglucerase Alfa in Adult Subjects With Gaucher Disease Completed NCT01422187 Phase 3 Taliglucerase alfa
21 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
22 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
23 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
24 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Antithymocyte Globulin
25 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
26 Study of Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat GZ385660
27 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
28 Intra-monocyte Imiglucerase Kinetics in Gaucher Disease Unknown status NCT01951989 Phase 2 Imiglucérase (drug) pharmacokinetics
29 Phase II Study of Glucocerebrosidase in Patients With Gaucher Disease Unknown status NCT00004293 Phase 2 glucocerebrosidase
30 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2 AT2101
31 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
32 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 AT2101
33 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
34 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
35 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
36 OGT 918-006: A Phase I/II Randomized, Controlled Study of OGT 918 in Patients With Neuronopathic Gaucher Disease Completed NCT00041535 Phase 2 OGT 918
37 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2 AT2101
38 An Open-Label, Dose Escalation Study to Evaluate the Safety and the Pharmacokinetics of Oral PRX-112 Completed NCT02107846 Phase 2 PRX-112
39 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
40 An Open-Label Clinical Trial of Replagal Enzyme Therapy in Children Ages 7-17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
41 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2 N-acetylcysteine
42 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
43 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
44 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2 Ambroxol
45 Intravenous N-acetylcysteine for the Treatment of Gaucher's Disease and Parkinson's Disease Completed NCT01427517 Phase 1 N-acetylcysteine
46 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
47 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
48 Safety and Pharmacokinetics of Oral PRX-112 in Gaucher Disease Patients Completed NCT01747980 Phase 1 PRX-112
49 A Study of the Tolerability, Safety, and Pharmacokinetics of ISU302 in Healthy Volunteers Completed NCT01881633 Phase 1 ISU302;Placebo
50 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1

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, Bone Marrow, Liver, Spleen, Brain, Lung, Testes

Publications for Gaucher Disease, Type I

Articles related to Gaucher Disease, Type I:

(show all 17)
# Title Authors Year
1
Glucocerebrosidase Deficiency in Drosophila Results in I+-Synuclein-Independent Protein Aggregation and Neurodegeneration. ( 27019408 )
2016
2
Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease. ( 27378698 )
2016
3
A new glucocerebrosidase-deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease. ( 27482815 )
2016
4
Mitochondrial dysfunction associated with glucocerebrosidase deficiency. ( 26388395 )
2015
5
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. ( 23034917 )
2012
6
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? ( 20049531 )
2010
7
Glucocerebrosidase deficiency dramatically impairs human bone marrow haematopoiesis in an in vitro model of Gaucher disease. ( 20507316 )
2010
8
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. ( 18226995 )
2008
9
Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? ( 12809640 )
2003
10
Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. ( 11994410 )
2002
11
Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas. ( 11592516 )
2001
12
Complete restoration of glucocerebrosidase deficiency in Gaucher fibroblasts using a bicistronic MDR retrovirus and a new selection strategy. ( 8934230 )
1996
13
Hydrocephalus, corneal opacities, deafness, left ventricle hypertrophy, clinodactyly in an adolescent patient. A new syndrome associated with glucocerebrosidase deficiency. ( 8588848 )
1995
14
Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. ( 8163674 )
1994
15
Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings: a new syndrome associated with beta-glucocerebrosidase deficiency and a mosaic population of storage cells. ( 1333717 )
1992
16
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. ( 2315324 )
1990
17
Glucocerebrosidase deficiency and lysosomal storage of glucocerebroside induced in cultured macrophages. ( 3803450 )
1987

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
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 132)
# Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 GRCh38 Chromosome 1, 155235252: 155235252
3 GBA NM_001005741.2(GBA): c.763T> G (p.Phe255Val) single nucleotide variant Pathogenic rs121908303 GRCh38 Chromosome 1, 155237577: 155237577
4 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
5 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh38 Chromosome 1, 155235843: 155235843
6 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
7 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh38 Chromosome 1, 155238629: 155238629
8 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
9 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh38 Chromosome 1, 155235772: 155235772
10 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
11 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic/Likely pathogenic rs1064651 GRCh38 Chromosome 1, 155235727: 155235727
12 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
13 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Likely pathogenic rs77369218 GRCh38 Chromosome 1, 155235726: 155235726
14 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
15 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic rs80356771 GRCh38 Chromosome 1, 155235196: 155235196
16 GBA NM_001005741.2(GBA): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 GRCh37 Chromosome 1, 155209730: 155209730
17 GBA NM_001005741.2(GBA): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 GRCh38 Chromosome 1, 155239939: 155239939
18 GBA NM_001005741.2(GBA): c.764T> A (p.Phe255Tyr) single nucleotide variant Likely pathogenic rs74500255 GRCh37 Chromosome 1, 155207367: 155207367
19 GBA NM_001005741.2(GBA): c.764T> A (p.Phe255Tyr) single nucleotide variant Likely pathogenic rs74500255 GRCh38 Chromosome 1, 155237576: 155237576
20 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Likely pathogenic rs147138516 GRCh37 Chromosome 1, 155208361: 155208361
21 GBA NM_001005741.2(GBA): c.535G> C (p.Asp179His) single nucleotide variant Likely pathogenic rs147138516 GRCh38 Chromosome 1, 155238570: 155238570
22 GBA NM_001005741.2(GBA): c.586A> C (p.Lys196Gln) single nucleotide variant Pathogenic rs121908297 GRCh37 Chromosome 1, 155208310: 155208310
23 GBA NM_001005741.2(GBA): c.586A> C (p.Lys196Gln) single nucleotide variant Pathogenic rs121908297 GRCh38 Chromosome 1, 155238519: 155238519
24 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
25 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh38 Chromosome 1, 155238141: 155238141
26 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh37 Chromosome 1, 155210452: 155210452
27 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh38 Chromosome 1, 155240661: 155240661
28 GBA NM_001005741.2(GBA): c.983C> T (p.Pro328Leu) single nucleotide variant Pathogenic rs121908298 GRCh37 Chromosome 1, 155207148: 155207148
29 GBA NM_001005741.2(GBA): c.983C> T (p.Pro328Leu) single nucleotide variant Pathogenic rs121908298 GRCh38 Chromosome 1, 155237357: 155237357
30 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
31 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh38 Chromosome 1, 155236384: 155236384
32 GBA NM_001005741.2(GBA): c.72delC (p.Leu25Serfs) deletion Pathogenic rs397518433 GRCh37 Chromosome 1, 155210464: 155210464
33 GBA NM_001005741.2(GBA): c.72delC (p.Leu25Serfs) deletion Pathogenic rs397518433 GRCh38 Chromosome 1, 155240673: 155240673
34 GBA NM_001005741.2(GBA): c.481C> T (p.Pro161Ser) single nucleotide variant Pathogenic rs121908299 GRCh37 Chromosome 1, 155208415: 155208415
35 GBA NM_001005741.2(GBA): c.481C> T (p.Pro161Ser) single nucleotide variant Pathogenic rs121908299 GRCh38 Chromosome 1, 155238624: 155238624
36 GBA NM_001005741.2(GBA): c.751T> C (p.Tyr251His) single nucleotide variant Pathogenic rs121908300 GRCh37 Chromosome 1, 155207935: 155207935
37 GBA NM_001005741.2(GBA): c.751T> C (p.Tyr251His) single nucleotide variant Pathogenic rs121908300 GRCh38 Chromosome 1, 155238144: 155238144
38 GBA NM_001005741.2(GBA): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic rs121908301 GRCh37 Chromosome 1, 155204848: 155204848
39 GBA NM_001005741.2(GBA): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic rs121908301 GRCh38 Chromosome 1, 155235057: 155235057
40 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
41 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh38 Chromosome 1, 155235002: 155235002
42 GBA NM_001005741.2(GBA): c.160G> T (p.Val54Leu) single nucleotide variant Pathogenic rs121908302 GRCh37 Chromosome 1, 155209824: 155209824
43 GBA NM_001005741.2(GBA): c.160G> T (p.Val54Leu) single nucleotide variant Pathogenic rs121908302 GRCh38 Chromosome 1, 155240033: 155240033
44 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
45 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic/Likely pathogenic rs364897 GRCh38 Chromosome 1, 155238215: 155238215
46 GBA NM_001005741.2(GBA): c.763T> G (p.Phe255Val) single nucleotide variant Pathogenic rs121908303 GRCh37 Chromosome 1, 155207368: 155207368
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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.53 GBA PSAP UGCG
2 10.89 GBA PSAP SCARB2

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 9.55 ADA CHIT1 GBA GH1 PSAP
2 lysosomal membrane GO:0005765 9.43 GBA PSAP SCARB2
3 lysosomal lumen GO:0043202 9.13 GBA PSAP SCARB2
4 lysosome GO:0005764 9.02 ADA CHIT1 GBA PSAP SCARB2

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.33 GBA PSAP UGCG
2 negative regulation of inflammatory response GO:0050728 9.26 ADA GBA
3 glycosphingolipid metabolic process GO:0006687 9.13 GBA PSAP UGCG
4 sphingolipid metabolic process GO:0006665 8.8 GBA 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, acting on glycosyl bonds GO:0016798 8.62 CHIT1 GBA

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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38 LifeMap
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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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