MCID: GCH015
MIFTS: 54

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 54 52
Acid Beta-Glucosidase Deficiency 12 50 71
Glucocerebrosidase Deficiency 12 50 71
Gaucher Disease Type 1 50 24 56
Gba Deficiency 12 50 71
Gaucher Disease, Noncerebral Juvenile 12 50
Gaucher Disease 71 69
Gd I 12 71
Adult Non-Neuronopathic Gaucher Disease 71
Non-Cerebral Juvenile Gaucher Disease 56
Noncerebral Juvenile Gaucher Disease 71
Gaucher's Disease, Type 1 29
Gaucher's Disease Type I 12
Gaucher Disease, Type 1 69
Gaucher Disease Type I 71
Glucosidase, Acid Beta 13
Type 1 Gaucher Disease 52
Gaucher Disease 1 71
Gd 1 50
Gd1 71
Gd 71

Characteristics:

Orphanet epidemiological data:

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

OMIM:

54
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 : 54
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 hepatomegaly, splenomegaly and thrombocytopenia. 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 Vitamin D and Vitamins have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and bone marrow, and related phenotype is renal/urinary system.

NIH Rare Diseases : 50 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). last updated: 12/9/2016

UniProtKB/Swiss-Prot : 71 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.

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.

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:

54

Abdomen- Liver:
hepatomegaly

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

Skeletal:
pathologic fractures
osteolytic lesions
osteonecrosis
bone crises
bone pain

Head And Neck- Nose:
epistaxis

Skeletal- Spine:
vertebral compression

Skin Nails & Hair- Skin:
hyperpigmentation

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

Abdomen- Spleen:
splenomegaly

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

Cardiovascular- Vascular:
increased retinal vascular permeability
pulmonary hypertension

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

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

Human phenotypes related to Gaucher Disease, Type I:

56 32 (show all 43)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0002240
2 splenomegaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0001744
3 thrombocytopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0001873
4 anemia 56 32 frequent (33%) Frequent (79-30%) HP:0001903
5 hematuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000790
6 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
7 leukopenia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001882
8 kyphosis 56 32 frequent (33%) Frequent (79-30%) HP:0002808
9 vertebral compression fractures 56 32 occasional (7.5%) Occasional (29-5%) HP:0002953
10 delayed puberty 56 32 hallmark (90%) Very frequent (99-80%) HP:0000823
11 osteopenia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000938
12 bone pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002653
13 hypersplenism 56 32 hallmark (90%) Very frequent (99-80%) HP:0001971
14 pancytopenia 56 32 frequent (33%) Frequent (79-30%) HP:0001876
15 cirrhosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001394
16 pericardial effusion 56 32 occasional (7.5%) Occasional (29-5%) HP:0001698
17 osteoarthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0002758
18 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
19 ascites 56 32 occasional (7.5%) Occasional (29-5%) HP:0001541
20 delayed skeletal maturation 56 32 hallmark (90%) Very frequent (99-80%) HP:0002750
21 osteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002797
22 gingival bleeding 56 32 frequent (33%) Frequent (79-30%) HP:0000225
23 anorexia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002039
24 pathologic fracture 56 32 occasional (7.5%) Occasional (29-5%) HP:0002756
25 increased bone mineral density 56 32 hallmark (90%) Very frequent (99-80%) HP:0011001
26 edema of the lower limbs 56 32 occasional (7.5%) Occasional (29-5%) HP:0010741
27 aseptic necrosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0010885
28 abnormality of the myocardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0001637
29 bruising susceptibility 56 32 frequent (33%) Frequent (79-30%) HP:0000978
30 increased antibody level in blood 56 32 occasional (7.5%) Occasional (29-5%) HP:0010702
31 biliary tract obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005230
32 macular atrophy 32 HP:0007401
33 epistaxis 32 HP:0000421
34 pulmonary hypertension 56 Occasional (29-5%)
35 dyspnea 32 HP:0002094
36 pulmonary arterial hypertension 32 occasional (7.5%) HP:0002092
37 pulmonary infiltrates 32 occasional (7.5%) HP:0002113
38 growth delay 56 Very frequent (99-80%)
39 multiple myeloma 32 HP:0006775
40 interstitial pulmonary disease 56 Occasional (29-5%)
41 hyperpigmentation of the skin 32 HP:0000953
42 erlenmeyer flask deformity of the femurs 32 HP:0004975
43 interstitial pulmonary abnormality 32 occasional (7.5%) HP:0006530

UMLS symptoms related to Gaucher Disease, Type I:


dyspnea, bone pain

MGI Mouse Phenotypes related to Gaucher Disease, Type I:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 8.92 ADA PSAP SCARB2 UGCG

Drugs & Therapeutics for Gaucher Disease, Type I

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

(show all 43)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
2 Vitamins Phase 4,Phase 2
3 Micronutrients Phase 4
4 Trace Elements Phase 4
5 Bone Density Conservation Agents Phase 4
6
Miglustat Approved Phase 3 72599-27-0 51634
7
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
8
Eliglustat Approved Phase 3,Phase 2 491833-29-5 23652731
9 tannic acid Approved, Nutraceutical Phase 3
10
1-Deoxynojirimycin Experimental Phase 3 19130-96-2 1374
11 Glycoside Hydrolase Inhibitors Phase 3
12 Hypoglycemic Agents Phase 3
13 Anti-HIV Agents Phase 3
14 Anti-Infective Agents Phase 3,Phase 2
15 Anti-Retroviral Agents Phase 3
16 Cardiac Glycosides Phase 3
17 Antiviral Agents Phase 3,Phase 2
18
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
19
Ambroxol Approved Phase 1, Phase 2 18683-91-5
20
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
21 Respiratory System Agents Phase 2,Phase 1
22 N-monoacetylcystine Phase 2
23 Expectorants Phase 2,Phase 1
24 Anti-Inflammatory Agents Phase 2
25 Antidotes Phase 2
26 Protective Agents Phase 2
27 Antioxidants Phase 2
28
Dopamine Approved 51-61-6, 62-31-7 681
29
Methamphetamine Approved, Illicit 537-46-2 10836
30
Imidacloprid Vet_approved 105827-78-9 86418
31 interferons
32 Interferon-gamma
33 Adrenergic Agents
34 Central Nervous System Stimulants
35 Neurotransmitter Agents
36 Neurotransmitter Uptake Inhibitors
37 Dopamine Agents
38 Dopamine Uptake Inhibitors
39 Peripheral Nervous System Agents
40 Immunoglobulins
41 Antibodies
42 Autoantibodies
43 Autonomic Agents

Interventional clinical trials:

(show all 47)

id 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 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
4 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 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 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3 miglustat
7 Phase III Study of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3 ISU302
8 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
9 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
10 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3 Eliglustat tartrate;Placebo
11 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
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 Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
14 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 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 Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3 eliglustat
18 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3 Cerezyme®;ISU302
19 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2 AT2101
20 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896 Phase 2
21 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2 AT2101
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 the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2 Eliglustat tartrate
24 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASE™
25 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2 AT2101
26 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
27 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2 N-acetylcysteine
28 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2 GZ402671
29 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2 Ambroxol
30 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
31 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
32 A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101 Terminated NCT00875160 Phase 1 AT2101
33 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
34 Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease Approved for marketing NCT00954460 velaglucerase alfa
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
38 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
39 Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease Completed NCT00351156
40 A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease Completed NCT00465062
41 LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
42 Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study Recruiting NCT02437396
43 International Collaborative Gaucher Group (ICGG) Gaucher Registry Recruiting NCT00358943
44 Thrombocytopathy in Gaucher Disease Patients Recruiting NCT01344096
45 Gaucherite - A Study to Stratify Gaucher Disease Recruiting NCT03240653
46 SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease Recruiting NCT02605603
47 A Screening Study Evaluating Disease Status of Gaucher Type I Patients Withdrawn NCT00795197

Search NIH Clinical Center for Gaucher Disease, Type I

Genetic Tests for Gaucher Disease, Type I

Genetic tests related to Gaucher Disease, Type I:

id Genetic test Affiliating Genes
1 Gaucher's Disease, Type 1 29
2 Gaucher Disease Type 1 24

Anatomical Context for Gaucher Disease, Type I

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

39
Bone, Testes, Bone Marrow, Liver, Endothelial, Spleen, Spinal Cord

Publications for Gaucher Disease, Type I

Articles related to Gaucher Disease, Type I:

id Title Authors Year
1
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? ( 20049531 )
2010
2
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. ( 18226995 )
2008
3
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:

71 (show top 50) (show all 142)
id 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 rs397515515
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 rs398123534
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 61)
id Gene Variation Type Significance SNP ID Assembly Location
1 GBA NM_001005741.2(GBA): c.72delC (p.Leu25Serfs) deletion Pathogenic rs397518433 GRCh38 Chromosome 1, 155240673: 155240673
2 GBA NM_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
3 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
4 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
5 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
6 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
7 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
8 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
9 GBA NM_001005741.2(GBA): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 GRCh37 Chromosome 1, 155209730: 155209730
10 GBA NM_001005741.2(GBA): c.764T> A (p.Phe255Tyr) single nucleotide variant Pathogenic/Likely pathogenic rs74500255 GRCh37 Chromosome 1, 155207367: 155207367
11 GBA NM_001005741.2(GBA): c.586A> C (p.Lys196Gln) single nucleotide variant Pathogenic rs121908297 GRCh37 Chromosome 1, 155208310: 155208310
12 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
13 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh37 Chromosome 1, 155210452: 155210452
14 GBA NM_000157.3(GBA): c.27+1G> A single nucleotide variant Pathogenic rs80356759 GRCh37 Chromosome 1, 155210876: 155210876
15 GBA NM_001005741.2(GBA): c.983C> T (p.Pro328Leu) single nucleotide variant Pathogenic rs121908298 GRCh37 Chromosome 1, 155207148: 155207148
16 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
17 GBA NM_001005741.2(GBA): c.481C> T (p.Pro161Ser) single nucleotide variant Pathogenic rs121908299 GRCh37 Chromosome 1, 155208415: 155208415
18 GBA NM_001005741.2(GBA): c.751T> C (p.Tyr251His) single nucleotide variant Pathogenic rs121908300 GRCh37 Chromosome 1, 155207935: 155207935
19 GBA NM_001005741.2(GBA): c.1549G> A (p.Gly517Ser) single nucleotide variant Pathogenic rs121908301 GRCh37 Chromosome 1, 155204848: 155204848
20 GBA NM_000157.3(GBA): c.1604G> A (p.Arg535His) single nucleotide variant Pathogenic rs75822236 GRCh37 Chromosome 1, 155204793: 155204793
21 GBA NM_001005741.2(GBA): c.160G> T (p.Val54Leu) single nucleotide variant Pathogenic rs121908302 GRCh37 Chromosome 1, 155209824: 155209824
22 GBA NM_000157.3(GBA): c.680A> G (p.Asn227Ser) single nucleotide variant Pathogenic rs364897 GRCh37 Chromosome 1, 155208006: 155208006
23 GBA NM_001005741.2(GBA): c.763T> G (p.Phe255Val) single nucleotide variant Pathogenic rs121908303 GRCh37 Chromosome 1, 155207368: 155207368
24 GBA NM_001005741.2(GBA): c.1043C> T (p.Ala348Val) single nucleotide variant Pathogenic rs78396650 GRCh37 Chromosome 1, 155206217: 155206217
25 GBA NM_001005741.2(GBA): c.1053G> T (p.Trp351Cys) single nucleotide variant Pathogenic rs121908304 GRCh37 Chromosome 1, 155206207: 155206207
26 GBA NM_001005741.2(GBA): c.1090G> A (p.Gly364Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121908305 GRCh37 Chromosome 1, 155206170: 155206170
27 GBA NM_001005741.2(GBA): c.1208G> C (p.Ser403Thr) single nucleotide variant Pathogenic rs121908307 GRCh37 Chromosome 1, 155206052: 155206052
28 GBA NM_001005741.2(GBA): c.259C> T (p.Arg87Trp) single nucleotide variant Pathogenic rs1141814 GRCh37 Chromosome 1, 155209725: 155209725
29 GBA NM_001005741.2(GBA): c.1319C> T (p.Pro440Leu) single nucleotide variant Pathogenic rs74598136 GRCh37 Chromosome 1, 155205541: 155205541
30 GBA NM_001005741.2(GBA): c.1192C> T (p.Arg398Ter) single nucleotide variant Pathogenic rs121908309 GRCh37 Chromosome 1, 155206068: 155206068
31 GBA NM_000157.3(GBA): c.1246G> A (p.Gly416Ser) single nucleotide variant Pathogenic rs121908311 GRCh37 Chromosome 1, 155205614: 155205614
32 GBA NM_000157.3(GBA): c.887G> A (p.Arg296Gln) single nucleotide variant Pathogenic rs78973108 GRCh37 Chromosome 1, 155207244: 155207244
33 GBA NM_000157.3(GBA): c.509G> T (p.Arg170Leu) single nucleotide variant Pathogenic rs80356763 GRCh37 Chromosome 1, 155208387: 155208387
34 GBA NM_001005741.2(GBA): c.354G> C (p.Lys118Asn) single nucleotide variant Pathogenic rs121908312 GRCh37 Chromosome 1, 155209507: 155209507
35 GBA NM_001005741.2(GBA): c.1228C> G (p.Leu410Val) single nucleotide variant Pathogenic rs121908314 GRCh37 Chromosome 1, 155205632: 155205632
36 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Pathogenic/Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
37 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
38 GBA NM_000157.3(GBA): c.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh37 Chromosome 1, 155210442: 155210443
39 GBA NM_001005741.2(GBA): c.1093G> A (p.Glu365Lys) single nucleotide variant risk factor rs2230288 GRCh37 Chromosome 1, 155206167: 155206167
40 GBA NM_000157.3(GBA): c.1226A> C (p.Asn409Thr) single nucleotide variant Pathogenic rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
41 GBA NM_000157.3(GBA): c.475C> T (p.Arg159Trp) single nucleotide variant Pathogenic rs439898 GRCh37 Chromosome 1, 155208421: 155208421
42 GBA NM_001005741.2(GBA): c.1060G> C (p.Asp354His) single nucleotide variant Pathogenic rs398123526 GRCh37 Chromosome 1, 155206200: 155206200
43 GBA NM_001005741.2(GBA): c.115+1G> A single nucleotide variant Pathogenic rs104886460 GRCh37 Chromosome 1, 155210420: 155210420
44 GBA NM_001005741.2(GBA): c.1171G> C (p.Val391Leu) single nucleotide variant Pathogenic rs398123527 GRCh37 Chromosome 1, 155206089: 155206089
45 GBA NM_001005741.2(GBA): c.1240G> T (p.Val414Leu) single nucleotide variant Likely pathogenic rs398123528 GRCh37 Chromosome 1, 155205620: 155205620
46 GBA NM_001005741.2(GBA): c.487delG (p.Ala163Profs) deletion Pathogenic rs398123529 GRCh37 Chromosome 1, 155208409: 155208409
47 GBA NM_001005741.2(GBA): c.508C> T (p.Arg170Cys) single nucleotide variant Pathogenic rs398123530 GRCh37 Chromosome 1, 155208388: 155208388
48 GBA NM_001005741.2(GBA): c.625C> T (p.Arg209Cys) single nucleotide variant Pathogenic rs398123532 GRCh37 Chromosome 1, 155208061: 155208061
49 GBA NM_001005741.2(GBA): c.721G> A (p.Gly241Arg) single nucleotide variant Pathogenic rs409652 GRCh37 Chromosome 1, 155207965: 155207965
50 GBA NM_001005741.2(GBA): c.680_681delATinsGG (p.Asn227Arg) indel Likely pathogenic rs786200979 GRCh37 Chromosome 1, 155208005: 155208006

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:

id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 GBA PSAP UGCG
2 negative regulation of inflammatory response GO:0050728 9.16 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:

id 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
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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37 KEGG
38 LifeMap
40 MedGen
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48 NDF-RT
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59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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