GD1
MCID: GCH015
MIFTS: 67

Gaucher Disease, Type I (GD1)

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 54
Acid Beta-Glucosidase Deficiency 57 12 20 72
Glucocerebrosidase Deficiency 57 12 20 72
Gba Deficiency 57 12 20 72
Gaucher Disease, Noncerebral Juvenile 57 12 20
Gaucher's Disease, Type 1 29 6 39
Gaucher Disease Type 1 73 20 58
Gd I 57 12 72
Gd1 57 12 72
Gaucher's Disease Type I 12 15
Gaucher Disease 72 70
Adult Non-Neuronopathic Gaucher Disease 72
Non-Cerebral Juvenile Gaucher Disease 58
Noncerebral Juvenile Gaucher Disease 72
Gaucher Disease, Type 1 70
Gaucher Disease Type I 72
Type 1 Gaucher Disease 54
Gaucher Disease 1 72
Gd 1 20
Gd 72

Characteristics:

Orphanet epidemiological data:

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

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
gaucher disease, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare respiratory diseases
Rare systemic and rhumatological diseases
Rare bone diseases
Inborn errors of metabolism


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 (GD2; 230900), and subacute neuronopathic type III (GD3; 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 that 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) (Updated 05-Apr-2021)

MalaCards based summary : Gaucher Disease, Type I, also known as acid beta-glucosidase deficiency, is related to gaucher disease, type iii and gaucher disease, perinatal lethal, 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 Parkinsons Disease Pathway. The drugs Sofosbuvir and Ledipasvir have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and spleen, and related phenotypes are osteopenia and splenomegaly

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.

GARD : 20 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).

UniProtKB/Swiss-Prot : 72 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 : 73 Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a... 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 480)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 33.5 PSAP LOC106627981 GBA
2 gaucher disease, perinatal lethal 33.4 LOC106627981 GBA
3 gaucher disease, type ii 33.1 PSAP LOC106627981 GBA CHIT1 CCL18
4 fabry disease 30.9 UGCG PSAP GBA CHIT1
5 lysosomal disease 30.7 GBA GALC
6 early myoclonic encephalopathy 30.7 SCARB2 GBA ASAH1
7 tremor 30.7 SNCA PRKN LRRK2 LOC106627981 GBA
8 gangliosidosis 30.7 UGCG PSAP CHIT1
9 chitotriosidase deficiency 30.7 GBA CHIT1
10 dementia, lewy body 30.5 SNCA SCARB2 PRKN PINK1 LRRK2 LOC106627981
11 peripheral nervous system disease 30.4 SNCA PRKN PINK1 LRRK2
12 niemann-pick disease, type c1 30.3 UGCG PSAP NPC2 NPC1
13 combined saposin deficiency 30.2 PSAP GALC
14 multiple system atrophy 1 30.2 SNCA PRKN LRRK2
15 niemann-pick disease, type b 30.2 NPC2 NPC1 CHIT1
16 scheie syndrome 30.1 NPC2 NPC1 GBA GALC
17 sphingolipidosis 30.1 UGCG SNCA SCARB2 PSAP PRKN PINK1
18 rem sleep behavior disorder 30.0 SNCA PRKN PINK1 LRRK2 GBA
19 parkinsonism 30.0 SNCA PINK1 LRRK2 LOC106627981 GBA
20 lysosomal storage disease 30.0 PSAP NPC2 NPC1 GBA GALC CHIT1
21 lysosomal acid lipase deficiency 29.9 NPC2 NPC1 CHIT1
22 mucolipidosis 29.9 PSAP NPC2 NPC1
23 parkinson disease, late-onset 29.9 SNCA PRKN PINK1 LRRK2 LOC106627981 GPNMB
24 mucopolysaccharidosis-plus syndrome 29.8 SNCA SCARB2 NPC2 NPC1 GBA GALC
25 gm1 gangliosidosis 29.8 UGCG PSAP NPC2 NPC1 GBA GALC
26 metachromatic leukodystrophy 29.8 PSAP NPC2 NPC1 GALC ASAH1
27 lipid storage disease 29.8 UGCG PSAP NPC2 NPC1 GBA GALC
28 neuronal ceroid lipofuscinosis 29.7 SNCA PSAP NPC2 NPC1
29 krabbe disease 29.6 UGCG SNCA PSAP NPC2 NPC1 GBA
30 tay-sachs disease 29.6 UGCG SNCA PSAP NPC2 NPC1 GBA
31 farber lipogranulomatosis 29.6 UGCG PSAP NPC1 GALC ASAH1
32 niemann-pick disease 29.5 UGCG SNCA PSAP NPC2 NPC1 GBA
33 niemann-pick disease, type a 29.5 PSAP NPC2 NPC1 GBA GALC CHIT1
34 dystonia 29.4 PRKN PINK1 NPC2 NPC1 LRRK2
35 gaucher's disease 29.1 UGCG SNCA SCARB2 PSAP PRKN PINK1
36 gaucher disease, atypical, due to saposin c deficiency 11.7
37 pseudo-gaucher disease 11.3
38 ocular motor apraxia 11.0
39 myoclonic epilepsy of unverricht and lundborg 11.0
40 lipid metabolism disorder 11.0
41 sea-blue histiocyte disease 11.0
42 littoral cell angioma of the spleen 11.0
43 myeloma, multiple 10.5
44 pulmonary hypertension 10.4
45 inherited metabolic disorder 10.4
46 apraxia 10.4
47 ichthyosis 10.4
48 myoclonus 10.4
49 osteomyelitis 10.4
50 hydrops fetalis, nonimmune 10.4

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

Human phenotypes related to Gaucher Disease, Type I:

58 31 (show all 45)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 osteopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000938
2 splenomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001744
3 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
4 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
5 avascular necrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010885
6 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
7 thrombocytopenia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001873
8 hypersplenism 58 31 hallmark (90%) Very frequent (99-80%) HP:0001971
9 anorexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002039
10 increased bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0011001
11 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
12 osteolysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002797
13 kyphosis 58 31 frequent (33%) Frequent (79-30%) HP:0002808
14 anemia 58 31 frequent (33%) Frequent (79-30%) HP:0001903
15 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
16 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
17 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
18 pancytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001876
19 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
20 ascites 58 31 occasional (7.5%) Occasional (29-5%) HP:0001541
21 cirrhosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001394
22 hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000790
23 abnormal myocardium morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001637
24 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
25 pulmonary arterial hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0002092
26 vertebral compression fractures 58 31 occasional (7.5%) Occasional (29-5%) HP:0002953
27 leukopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001882
28 pedal edema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010741
29 pericardial effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0001698
30 pathologic fracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0002756
31 biliary tract obstruction 58 31 occasional (7.5%) Occasional (29-5%) HP:0005230
32 pulmonary infiltrates 31 occasional (7.5%) HP:0002113
33 abnormal pulmonary interstitial morphology 31 occasional (7.5%) HP:0006530
34 increased circulating antibody level 31 occasional (7.5%) HP:0010702
35 hypertension 31 HP:0000822
36 growth delay 58 Very frequent (99-80%)
37 dyspnea 31 HP:0002094
38 abnormality of the eye 31 HP:0000478
39 epistaxis 31 HP:0000421
40 increased antibody level in blood 58 Occasional (29-5%)
41 interstitial pulmonary abnormality 58 Occasional (29-5%)
42 hyperpigmentation of the skin 31 HP:0000953
43 multiple myeloma 31 HP:0006775
44 macular atrophy 31 HP:0007401
45 erlenmeyer flask deformity of the femurs 31 HP:0004975

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

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

Head And Neck Nose:
epistaxis

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

Skin Nails Hair Skin:
hyperpigmentation

Skeletal Spine:
vertebral compression

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

Abdomen Liver:
hepatomegaly

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

Skeletal:
bone pain
pathologic fractures
osteolytic lesions
osteonecrosis
bone crises

Cardiovascular Vascular:
pulmonary hypertension
increased retinal vascular permeability

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

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

Clinical features from OMIM®:

230800 (Updated 05-Apr-2021)

UMLS symptoms related to Gaucher Disease, Type I:


dyspnea; bone pain

MGI Mouse Phenotypes related to Gaucher Disease, Type I:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 AGL ASAH1 GALC GBA GPNMB LRRK2
2 cellular MP:0005384 10.29 ASAH1 GALC GBA GBA2 LRRK2 MSH6
3 homeostasis/metabolism MP:0005376 10.28 AGL ASAH1 GALC GBA GBA2 LRRK2
4 hematopoietic system MP:0005397 10.21 ASAH1 GALC GBA GPNMB LRRK2 MSH6
5 cardiovascular system MP:0005385 10.19 AGL GALC GBA LRRK2 NPC1 NPC2
6 immune system MP:0005387 10.18 ASAH1 CHIT1 GALC GBA GPNMB LRRK2
7 endocrine/exocrine gland MP:0005379 10.11 ASAH1 GBA GBA2 LRRK2 NPC1 NPC2
8 mortality/aging MP:0010768 10.1 AGL ASAH1 GALC GBA LRRK2 MSH6
9 nervous system MP:0003631 9.97 ASAH1 GALC GBA GPNMB LRRK2 NPC1
10 liver/biliary system MP:0005370 9.87 AGL ASAH1 GALC GBA NPC1 NPC2
11 respiratory system MP:0005388 9.56 AGL ASAH1 GBA LRRK2 NPC1 NPC2
12 skeleton MP:0005390 9.32 AGL ASAH1 GALC GBA LRRK2 PINK1

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 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 Ledipasvir, sofosbuvir drug combination Phase 4
5 Hepatitis C Antibodies Phase 4
6 Trace Elements Phase 4
7 Nutrients Phase 4
8 Vitamins Phase 4
9 Calciferol Phase 4
10 Micronutrients Phase 4
11 Pharmaceutical Solutions Phase 4
12 Liver Extracts Phase 4
13
Miglustat Approved Phase 3 72599-27-0 51634
14
tannic acid Approved Phase 3 1401-55-4
15
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
16
Prednisolone acetate Approved, Vet_approved Phase 2, Phase 3 52-21-1
17
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
18
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
19
Methylprednisolone hemisuccinate Approved Phase 2, Phase 3 2921-57-5
20
Prednisolone phosphate Approved, Vet_approved Phase 2, Phase 3 302-25-0
21
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
22
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
23
Eliglustat Approved Phase 3 491833-29-5 23652731
24
Prednisolone hemisuccinate Experimental Phase 2, Phase 3 2920-86-7
25 Glycoside Hydrolase Inhibitors Phase 3
26 Anti-Retroviral Agents Phase 3
27 Cardiac Glycosides Phase 3
28 Anti-HIV Agents Phase 3
29 Hypoglycemic Agents Phase 3
30 Methylprednisolone Acetate Phase 2, Phase 3
31 Immunosuppressive Agents Phase 2, Phase 3
32 Alkylating Agents Phase 2, Phase 3
33 Antirheumatic Agents Phase 2, Phase 3
34 Antilymphocyte Serum Phase 2, Phase 3
35
Coal tar Approved Phase 2 8007-45-2
36
Alendronate Approved Phase 2 121268-17-5, 66376-36-1 2088
37
Calcium carbonate Approved, Investigational Phase 2 471-34-1
38
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
39
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
40
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
41
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
42
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616
43
Ambroxol Approved, Investigational Phase 1, Phase 2 18683-91-5
44
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 5280453 134070
45
Vitamin D3 Approved, Nutraceutical Phase 2 67-97-0 5280795 6221
46 Antacids Phase 2
47 Calcium, Dietary Phase 2
48 Anti-Ulcer Agents Phase 2
49 Antidotes Phase 2
50 Protective 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 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)
5 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
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 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
17 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
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 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
31 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
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 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
39 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
40 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
41 Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
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 Phase II Randomized Study of Alendronate Sodium for Osteopenia in Patients With Gaucher's Disease Completed NCT00004488 Phase 2 alendronate sodium;calcium carbonate;cholecalciferol
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 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
49 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
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 Disease, Type I

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


alglucerase
eliglustat
imiglucerase
taliglucerase alfa
velaglucerase alfa

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:

40
Liver, Bone, Spleen, Bone Marrow, Eye, Spinal Cord, Endothelial

Publications for Gaucher Disease, Type I

Articles related to Gaucher Disease, Type I:

(show top 50) (show all 555)
# Title Authors PMID Year
1
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA). 57 6
18338393 2008
2
Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation. 57 6
8544197 1995
3
Gaucher disease: new molecular approaches to diagnosis and treatment. 6 57
1589760 1992
4
Identification of the second common Jewish Gaucher disease mutation makes possible population-based screening for the heterozygous state. 57 6
1961718 1991
5
High frequency of the Gaucher disease mutation at nucleotide 1226 among Ashkenazi Jews. 6 57
1897529 1991
6
Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals. 57 6
3353383 1988
7
A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease. 57 6
2880291 1987
8
Glucocerebrosidase mutations in subjects with parkinsonism. 54 6 61
14728994 2004
9
Perinatal-lethal Gaucher disease. 6 61 54
12838552 2003
10
DNA mutational analysis of type 1 and type 3 Gaucher patients: how well do mutations predict phenotype? 54 6 61
8118463 1994
11
Chimerism after liver transplantation for type IV glycogen storage disease and type 1 Gaucher's disease. 61 57 54
8437594 1993
12
Correction of glucocerebrosidase deficiency after retroviral-mediated gene transfer into hematopoietic progenitor cells from patients with Gaucher disease. 61 54 57
2315324 1990
13
Brain white matter microstructural alterations in children of type I Gaucher disease characterized with diffusion tensor MR imaging. 6 61
29685539 2018
14
Spectrum of GBA mutations in patients with Gaucher disease from Slovakia: identification of five novel mutations. 61 6
25946768 2015
15
Glucocerebrosidase deficiency in zebrafish affects primary bone ossification through increased oxidative stress and reduced Wnt/β-catenin signaling. 6 61
25326392 2015
16
Improvement in Bone Mineral Density and Architecture in a Patient with Gaucher Disease Using Teriparatide. 61 6
25732996 2015
17
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease. 61 6
24522292 2014
18
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. 61 6
23386328 2013
19
The underrecognized progressive nature of N370S Gaucher disease and assessment of cancer risk in 403 patients. 54 6
19260119 2009
20
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoring. 57 54
17464953 2007
21
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. 61 6
15943874 2005
22
Mutation analysis of the acid beta-glucosidase gene in a patient with type 3 Gaucher disease and neutralizing antibody to alglucerase. 54 6
11600137 2001
23
Glucocerebrosidase mutations among African-American patients with type 1 Gaucher disease. 54 57
11241475 2001
24
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. 6 54
10777718 2000
25
The natural course of Gaucher disease in The Netherlands: implications for monitoring of disease manifestations. 61 57
10682310 2000
26
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients. 54 6
10757640 2000
27
Type I Gaucher disease due to homozygosity for the 259T mutation in a Bedouin patient. 54 6
9295080 1997
28
Glucocerebrosidase genotype of Gaucher patients in The Netherlands: limitations in prognostic value. 6 54
9375849 1997
29
Acceleration of retarded growth in children with Gaucher disease after treatment with alglucerase. 54 57
8757576 1996
30
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations. 54 6
8829654 1996
31
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease. 54 6
8450045 1993
32
A less costly regimen of alglucerase to treat Gaucher's disease. 57 54
1435900 1992
33
Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. 61 6
1437405 1992
34
Gaucher disease: A G+1----A+1 IVS2 splice donor site mutation causing exon 2 skipping in the acid beta-glucosidase mRNA. 54 6
1415223 1992
35
Replacement therapy for inherited enzyme deficiency--macrophage-targeted glucocerebrosidase for Gaucher's disease. 54 57
2023606 1991
36
Genetic heterogeneity in Gaucher disease. 57 61
3746831 1986
37
Immunological and catalytic quantitation of splenic glucocerebrosidase from the three clinical forms of Gaucher disease. 61 57
6881138 1983
38
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected child. 6
33223529 2021
39
GBA variation and susceptibility to multiple system atrophy. 6
32623306 2020
40
Identification of susceptibility loci for cognitive impairment in a cohort of Han Chinese patients with Parkinson's disease. 6
32404250 2020
41
Neuropathological and genetic characteristics of a post-mortem series of cases with dementia with Lewy bodies clinically suspected of Creutzfeldt-Jakob's disease. 6
30777654 2019
42
Evaluation of the frequency of non-motor symptoms of Parkinson's disease in adult patients with Gaucher disease type 1. 6
31077260 2019
43
Genetic analysis of neurodegenerative diseases in a pathology cohort. 6
30528841 2019
44
Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. 6
30637984 2019
45
First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L. 6
30949558 2019
46
Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation. 6
30764785 2019
47
Characterization of Brain Lysosomal Activities in GBA-Related and Sporadic Parkinson's Disease and Dementia with Lewy Bodies. 6
29948939 2019
48
Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer. 6
30382391 2019
49
Utility and implications of exome sequencing in early-onset Parkinson's disease. 6
30537300 2019
50
The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase. 6
30497978 2018

Variations for Gaucher Disease, Type I

ClinVar genetic disease variations for Gaucher Disease, Type I:

6 (show top 50) (show all 190)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106627981 , GBA NM_000157.4(GBA):c.586A>C (p.Lys196Gln) SNV Pathogenic 4300 rs121908297 GRCh37: 1:155208310-155208310
GRCh38: 1:155238519-155238519
2 LOC106627981 , GBA NM_000157.4(GBA):c.983C>T (p.Pro328Leu) SNV Pathogenic 4305 rs121908298 GRCh37: 1:155207148-155207148
GRCh38: 1:155237357-155237357
3 GBA NM_000157.4(GBA):c.73del (p.Leu25fs) Deletion Pathogenic 4307 rs397518433 GRCh37: 1:155210463-155210463
GRCh38: 1:155240672-155240672
4 LOC106627981 , GBA NM_000157.4(GBA):c.481C>T (p.Pro161Ser) SNV Pathogenic 4308 rs121908299 GRCh37: 1:155208415-155208415
GRCh38: 1:155238624-155238624
5 LOC106627981 , GBA NM_000157.4(GBA):c.160G>T (p.Val54Leu) SNV Pathogenic 4313 rs121908302 GRCh37: 1:155209824-155209824
GRCh38: 1:155240033-155240033
6 LOC106627981 , GBA NM_000157.4(GBA):c.763T>G (p.Phe255Val) SNV Pathogenic 4315 rs121908303 GRCh37: 1:155207368-155207368
GRCh38: 1:155237577-155237577
7 LOC106627981 , GBA NM_000157.4(GBA):c.1043C>T (p.Ala348Val) SNV Pathogenic 4316 rs78396650 GRCh37: 1:155206217-155206217
GRCh38: 1:155236426-155236426
8 LOC106627981 , GBA NM_000157.4(GBA):c.1053G>T (p.Trp351Cys) SNV Pathogenic 4317 rs121908304 GRCh37: 1:155206207-155206207
GRCh38: 1:155236416-155236416
9 LOC106627981 , GBA NM_000157.4(GBA):c.1319C>T (p.Pro440Leu) SNV Pathogenic 4324 rs74598136 GRCh37: 1:155205541-155205541
GRCh38: 1:155235750-155235750
10 LOC106627981 , GBA NM_000157.4(GBA):c.1228C>G (p.Leu410Val) SNV Pathogenic 4332 rs121908314 GRCh37: 1:155205632-155205632
GRCh38: 1:155235841-155235841
11 LOC106627981 , GBA NM_000157.4(GBA):c.999+242C>A SNV Pathogenic 689500 rs1571969643 GRCh37: 1:155206890-155206890
GRCh38: 1:155237099-155237099
12 LOC106627981 , GBA NM_000157.4(GBA):c.1388+2T>C SNV Pathogenic 813335 rs1571965880 GRCh37: 1:155205470-155205470
GRCh38: 1:155235679-155235679
13 LOC106627981 , GBA NM_000157.4(GBA):c.1174C>T (p.Arg392Trp) SNV Pathogenic 813336 rs121908308 GRCh37: 1:155206086-155206086
GRCh38: 1:155236295-155236295
14 LOC106627981 , GBA NM_000157.4(GBA):c.970C>T (p.Arg324Cys) SNV Pathogenic 813337 rs765633380 GRCh37: 1:155207161-155207161
GRCh38: 1:155237370-155237370
15 LOC106627981 , GBA NM_000157.4(GBA):c.526G>A (p.Asp176Asn) SNV Pathogenic 446213 rs1553217946 GRCh37: 1:155208370-155208370
GRCh38: 1:155238579-155238579
16 LOC106627981 , GBA NM_000157.4(GBA):c.1599G>A (p.Trp533Ter) SNV Pathogenic 917862 GRCh37: 1:155204798-155204798
GRCh38: 1:155235007-155235007
17 LOC106627981 , GBA NM_000157.4(GBA):c.222_224del (p.Thr75del) Deletion Pathogenic 642539 rs761621516 GRCh37: 1:155209760-155209762
GRCh38: 1:155239969-155239971
18 LOC106627981 , GBA NM_000157.4(GBA):c.557del (p.Phe186fs) Deletion Pathogenic 869105 GRCh37: 1:155208339-155208339
GRCh38: 1:155238548-155238548
19 LOC106627981 , GBA NM_000157.4(GBA):c.403_404del (p.Leu135fs) Deletion Pathogenic 932298 GRCh37: 1:155209457-155209458
GRCh38: 1:155239666-155239667
20 LOC106627981 , GBA NM_000157.4(GBA):c.1226A>C (p.Asn409Thr) SNV Pathogenic 38301 rs76763715 GRCh37: 1:155205634-155205634
GRCh38: 1:155235843-155235843
21 LOC106627981 , GBA NM_000157.4(GBA):c.1343A>T (p.Asp448Val) SNV Pathogenic 4294 rs77369218 GRCh37: 1:155205517-155205517
GRCh38: 1:155235726-155235726
22 GBA NM_000157.4(GBA):c.93_94insG (p.Gln32fs) Insertion Pathogenic 21073 rs80356760 GRCh37: 1:155210442-155210443
GRCh38: 1:155240651-155240652
23 LOC106627981 , GBA NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) Deletion Pathogenic 193611 rs80356768 GRCh37: 1:155205541-155205595
GRCh38: 1:155235750-155235804
24 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
25 LOC106627981 , GBA NM_000157.4(GBA):c.1265_1319del (p.Leu422fs) Deletion Pathogenic 193611 rs80356768 GRCh37: 1:155205541-155205595
GRCh38: 1:155235750-155235804
26 LOC106627981 , GBA NM_000157.4(GBA):c.1312G>A (p.Asp438Asn) SNV Pathogenic 496081 rs1553217009 GRCh37: 1:155205548-155205548
GRCh38: 1:155235757-155235757
27 LOC106627981 , GBA NM_000157.4(GBA):c.1029del (p.Lys342_Tyr343insTer) Deletion Pathogenic 496079 rs1553217314 GRCh37: 1:155206231-155206231
GRCh38: 1:155236440-155236440
28 LOC106627981 , GBA NM_000157.4(GBA):c.630del (p.Val211fs) Deletion Pathogenic 496084 rs1553217879 GRCh37: 1:155208056-155208056
GRCh38: 1:155238265-155238265
29 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
30 LOC106627981 , GBA NM_000157.4(GBA):c.653G>A (p.Trp218Ter) SNV Pathogenic 632834 rs867929413 GRCh37: 1:155208033-155208033
GRCh38: 1:155238242-155238242
31 LOC106627981 , GBA NM_000157.4(GBA):c.762-1G>C SNV Pathogenic 633240 rs1237637353 GRCh37: 1:155207370-155207370
GRCh38: 1:155237579-155237579
32 LOC106627981 , GBA NM_000157.4(GBA):c.1357C>T (p.Gln453Ter) SNV Pathogenic 633241 rs1557901325 GRCh37: 1:155205503-155205503
GRCh38: 1:155235712-155235712
33 LOC106627981 , GBA NM_000157.4(GBA):c.1297G>T (p.Val433Leu) SNV Pathogenic 4292 rs80356769 GRCh37: 1:155205563-155205563
GRCh38: 1:155235772-155235772
34 LOC106627981 , GBA NM_000157.4(GBA):c.1184C>T (p.Ser395Phe) SNV Pathogenic 918140 GRCh37: 1:155206076-155206076
GRCh38: 1:155236285-155236285
35 GBA NM_000157.4(GBA):c.108G>A (p.Trp36Ter) SNV Pathogenic 974986 GRCh37: 1:155210428-155210428
GRCh38: 1:155240637-155240637
36 LOC106627981 , GBA NM_000157.4(GBA):c.334C>T (p.Gln112Ter) SNV Pathogenic 984479 GRCh37: 1:155209527-155209527
GRCh38: 1:155239736-155239736
37 LOC106627981 , GBA NM_000157.4(GBA):c.203dup (p.Thr69fs) Duplication Pathogenic 987870 GRCh37: 1:155209780-155209781
GRCh38: 1:155239989-155239990
38 LOC106627981 , GBA NM_000157.4(GBA):c.886C>T (p.Arg296Ter) SNV Pathogenic 558787 rs1553217626 GRCh37: 1:155207245-155207245
GRCh38: 1:155237454-155237454
39 LOC106627981 , GBA NM_000157.4(GBA):c.635C>G (p.Ser212Ter) SNV Pathogenic 996254 GRCh37: 1:155208051-155208051
GRCh38: 1:155238260-155238260
40 LOC106627981 , GBA NM_000157.4(GBA):c.1549G>A (p.Gly517Ser) SNV Pathogenic 4310 rs121908301 GRCh37: 1:155204848-155204848
GRCh38: 1:155235057-155235057
41 LOC106627981 , GBA NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) SNV Pathogenic 4295 rs80356771 GRCh37: 1:155204987-155204987
GRCh38: 1:155235196-155235196
42 LOC106627981 , GBA NM_000157.4(GBA):c.254G>A (p.Gly85Glu) SNV Pathogenic 4296 rs77829017 GRCh37: 1:155209730-155209730
GRCh38: 1:155239939-155239939
43 LOC106627981 , GBA NM_000157.4(GBA):c.1448T>C (p.Leu483Pro) SNV Pathogenic 4297 rs421016 GRCh37: 1:155205043-155205043
GRCh38: 1:155235252-155235252
44 LOC106627981 , GBA NM_000157.4(GBA):c.764T>A (p.Phe255Tyr) SNV Pathogenic 4298 rs74500255 GRCh37: 1:155207367-155207367
GRCh38: 1:155237576-155237576
45 LOC106627981 , GBA NM_000157.4(GBA):c.535G>C (p.Asp179His) SNV Pathogenic 4299 rs147138516 GRCh37: 1:155208361-155208361
GRCh38: 1:155238570-155238570
46 LOC106627981 , GBA NM_000157.4(GBA):c.754T>A (p.Phe252Ile) SNV Pathogenic 4301 rs381737 GRCh37: 1:155207932-155207932
GRCh38: 1:155238141-155238141
47 GBA NM_001005741.2(GBA):c.84dupG (p.Leu29Alafs*18) Duplication Pathogenic 4302 rs387906315 GRCh37: 1:155210451-155210452
GRCh38: 1:155240660-155240661
48 LOC106627981 , GBA NM_000157.4(GBA):c.1085C>T (p.Thr362Ile) SNV Pathogenic 4306 rs76539814 GRCh37: 1:155206175-155206175
GRCh38: 1:155236384-155236384
49 LOC106627981 , GBA NM_000157.4(GBA):c.751T>C (p.Tyr251His) SNV Pathogenic 4309 rs121908300 GRCh37: 1:155207935-155207935
GRCh38: 1:155238144-155238144
50 LOC106627981 , GBA NM_000157.4(GBA):c.1604G>A (p.Arg535His) SNV Pathogenic 4311 rs75822236 GRCh37: 1:155204793-155204793
GRCh38: 1:155235002-155235002

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

72 (show top 50) (show all 134)
# 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 rs77834747
9 GBA p.Arg159Trp VAR_003264 rs439898
10 GBA p.Pro161Ser VAR_003265 rs121908299
11 GBA p.Thr173Pro VAR_003266 rs144190990
12 GBA p.Asp179His VAR_003267 rs147138516
13 GBA p.Lys196Gln VAR_003268 rs121908297
14 GBA p.Arg209Pro VAR_003269 rs749416070
15 GBA p.Ala215Asp VAR_003270
16 GBA p.Pro221Thr VAR_003272 rs866075757
17 GBA p.Trp223Arg VAR_003273 rs61748906
18 GBA p.Asn227Ser VAR_003274 rs364897
19 GBA p.Asn227Lys VAR_003275 rs381418
20 GBA p.Val230Gly VAR_003276 rs381427
21 GBA p.Gly234Glu VAR_003277 rs74462743
22 GBA p.Gly241Arg VAR_003279 rs409652
23 GBA p.Tyr251His VAR_003280 rs121908300
24 GBA p.Phe255Tyr VAR_003282 rs74500255
25 GBA p.Ser276Pro VAR_003283
26 GBA p.Pro305Arg VAR_003285 rs79215220
27 GBA p.Arg324Cys VAR_003286 rs765633380
28 GBA p.Pro328Leu VAR_003287 rs121908298
29 GBA p.Lys342Ile VAR_003288 rs77714449
30 GBA p.Ala348Val VAR_003289 rs78396650
31 GBA p.Trp351Cys VAR_003290 rs121908304
32 GBA p.Tyr352His VAR_003291
33 GBA p.Asp354His VAR_003292 rs398123526
34 GBA p.Ala357Asp VAR_003293 rs78188205
35 GBA p.Thr362Ile VAR_003294 rs76539814
36 GBA p.Glu365Lys VAR_003297 rs2230288
37 GBA p.Arg398Gln VAR_003299 rs74979486
38 GBA p.Ser403Thr VAR_003300 rs121908307
39 GBA p.Thr408Met VAR_003301 rs75548401
40 GBA p.Asn409Ser VAR_003302 rs76763715
41 GBA p.Gly416Ser VAR_003303 rs121908311
42 GBA p.Trp417Gly VAR_003304 rs145042664
43 GBA p.Asp419Asn VAR_003306
44 GBA p.Pro430Leu VAR_003308 rs76910485
45 GBA p.Val433Leu VAR_003310 rs80356769
46 GBA p.Asn435Thr VAR_003311 rs75385858
47 GBA p.Asp438Asn VAR_003312 rs155321700
48 GBA p.Asp448His VAR_003313 rs1064651
49 GBA p.Asp448Val VAR_003314 rs77369218
50 GBA p.Tyr451His VAR_003315

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
11.84 UGCG PSAP GBA2 GBA GALC ASAH1
2 11.38 SNCA PRKN PINK1 LRRK2
3 11.27 SCARB2 PSAP NPC2 NPC1 GBA GALC
4 10.58 GBA2 GBA
5
Show member pathways
10.4 NPC2 NPC1

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 region GO:0005576 10.09 SNCA PSAP NPC2 NPC1 GH1 CHIT1
2 endoplasmic reticulum GO:0005783 10.01 PRKN PINK1 NPC2 NPC1 LRRK2 GBA2
3 extracellular space GO:0005615 9.97 SNCA PSAP NPC2 LRRK2 GH1 GBA
4 Golgi apparatus GO:0005794 9.86 UGCG SNCA PRKN NPC1 MSH6 LRRK2
5 lysosomal membrane GO:0005765 9.76 SCARB2 PSAP NPC1 GBA
6 lysosomal lumen GO:0043202 9.43 SCARB2 PSAP NPC2 GBA GALC ASAH1
7 Lewy body GO:0097413 9.37 PRKN PINK1
8 inclusion body GO:0016234 9.33 SNCA LRRK2 AGL
9 lysosome GO:0005764 9.32 SNCA SCARB2 PSAP NPC2 NPC1 LRRK2

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

(show all 46)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 10.04 PSAP NPC2 CHIT1 ASAH1 AGL
2 lipid metabolic process GO:0006629 9.92 UGCG PSAP NPC2 NPC1 GBA2 GBA
3 negative regulation of neuron apoptotic process GO:0043524 9.86 SNCA PRKN PINK1 GBA
4 cellular response to oxidative stress GO:0034599 9.85 SNCA PINK1 LRRK2
5 steroid metabolic process GO:0008202 9.85 NPC2 NPC1 GBA2 GBA
6 negative regulation of protein phosphorylation GO:0001933 9.83 SNCA PRKN LRRK2
7 metabolic process GO:0008152 9.83 GBA2 GBA GALC CHIT1 AGL
8 positive regulation of proteasomal ubiquitin-dependent protein catabolic process GO:0032436 9.82 PRKN LRRK2 GBA
9 regulation of autophagy GO:0010506 9.81 PSAP PRKN LRRK2
10 cholesterol metabolic process GO:0008203 9.81 NPC2 NPC1 GBA2 GBA
11 mitochondrion organization GO:0007005 9.8 PRKN PINK1 LRRK2 GBA
12 autophagy GO:0006914 9.8 PRKN PINK1 NPC1 LRRK2 GBA
13 regulation of neurotransmitter secretion GO:0046928 9.7 SNCA PRKN
14 regulation of mitochondrion organization GO:0010821 9.7 PRKN PINK1
15 lysosomal transport GO:0007041 9.69 PSAP NPC1
16 negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902236 9.69 PRKN LRRK2
17 regulation of protein ubiquitination GO:0031396 9.69 PRKN PINK1
18 negative regulation of autophagosome assembly GO:1902902 9.68 PINK1 LRRK2
19 positive regulation of mitochondrial fission GO:0090141 9.68 PRKN PINK1
20 dopamine metabolic process GO:0042417 9.68 SNCA PRKN
21 bile acid metabolic process GO:0008206 9.68 NPC1 GBA2
22 cellular response to dopamine GO:1903351 9.67 PRKN LRRK2
23 sphingosine biosynthetic process GO:0046512 9.67 GBA ASAH1
24 intracellular cholesterol transport GO:0032367 9.66 NPC2 NPC1
25 lipid glycosylation GO:0030259 9.66 GBA2 GBA
26 synaptic transmission, dopaminergic GO:0001963 9.65 SNCA PRKN
27 negative regulation of oxidative stress-induced cell death GO:1903202 9.65 PRKN PINK1
28 regulation of reactive oxygen species metabolic process GO:2000377 9.65 SNCA PRKN PINK1
29 cellular response to manganese ion GO:0071287 9.63 PRKN LRRK2
30 determination of adult lifespan GO:0008340 9.63 MSH6 LRRK2 GBA
31 negative regulation of neuron death GO:1901215 9.63 SNCA PRKN PINK1 LRRK2 GPNMB GBA
32 regulation of cellular response to oxidative stress GO:1900407 9.62 PRKN PINK1
33 regulation of locomotion GO:0040012 9.62 SNCA LRRK2
34 regulation of protein targeting to mitochondrion GO:1903214 9.61 PRKN PINK1
35 protein localization to mitochondrion GO:0070585 9.61 PRKN LRRK2
36 positive regulation of histone deacetylase activity GO:1901727 9.6 PINK1 LRRK2
37 positive regulation of mitophagy in response to mitochondrial depolarization GO:0098779 9.59 PRKN PINK1
38 cellular response to toxic substance GO:0097237 9.58 PRKN PINK1
39 positive regulation of autophagy of mitochondrion in response to mitochondrial depolarization GO:1904925 9.58 PINK1 GBA
40 dopamine uptake involved in synaptic transmission GO:0051583 9.57 SNCA PRKN
41 mitochondrion to lysosome transport GO:0099074 9.54 PRKN PINK1
42 negative regulation of macroautophagy GO:0016242 9.54 PINK1 NPC1 LRRK2
43 glucosylceramide catabolic process GO:0006680 9.52 GBA2 GBA
44 regulation of synaptic vesicle transport GO:1902803 9.43 PRKN PINK1 LRRK2
45 sphingolipid metabolic process GO:0006665 9.43 UGCG PSAP GBA2 GBA GALC ASAH1
46 glycosphingolipid metabolic process GO:0006687 9.1 UGCG PSAP GBA2 GBA GALC ASAH1

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

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 9.8 SNCA SCARB2 PRKN NPC2 MSH6
2 transferase activity, transferring glycosyl groups GO:0016757 9.76 UGCG GBA2 GBA AGL
3 magnesium ion binding GO:0000287 9.73 SNCA PINK1 MSH6 LRRK2
4 phospholipase binding GO:0043274 9.48 SNCA PRKN
5 cholesterol binding GO:0015485 9.43 SCARB2 NPC2 NPC1
6 glucosyltransferase activity GO:0046527 9.37 GBA2 GBA
7 beta-glucosidase activity GO:0008422 9.32 GBA2 GBA
8 glucosylceramidase activity GO:0004348 9.16 GBA2 GBA
9 hydrolase activity, acting on glycosyl bonds GO:0016798 9.02 GBA2 GBA GALC CHIT1 AGL
10 steryl-beta-glucosidase activity GO:0050295 8.96 GBA2 GBA

Sources for Gaucher Disease, Type I

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
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