GD
MCID: GCH015
MIFTS: 59

Gaucher Disease, Type I (GD) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Gaucher Disease, Type I

Aliases & Descriptions for Gaucher Disease, Type I:

Name: Gaucher Disease, Type I 54 52
Acid Beta-Glucosidase Deficiency 12 50 66
Glucocerebrosidase Deficiency 12 50 66
Gaucher Disease Type 1 50 24 56
Gba Deficiency 12 50 66
Gaucher Disease, Noncerebral Juvenile 12 50
Gaucher Disease Type I 66 29
Gaucher Disease 66 69
Gd I 12 66
Adult Non-Neuronopathic Gaucher Disease 66
Non-Cerebral Juvenile Gaucher Disease 56
Noncerebral Juvenile Gaucher Disease 66
Gaucher's Disease Type I 12
Gaucher Disease, Type 1 69
Glucosidase, Acid Beta 13
Type 1 Gaucher Disease 52
Gaucher Disease 1 66
Gd 1 50
Gd1 66
Gd 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

32
gaucher disease, type i:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 230800
Disease Ontology 12 DOID:0110957
ICD10 33 E75.2
Orphanet 56 ORPHA77259
UMLS via Orphanet 70 C1961835
ICD10 via Orphanet 34 E75.2
MeSH 42 D005776

Summaries for Gaucher Disease, Type I

OMIM : 54 Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of... (230800) more...

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 iiic, and has symptoms including abdominal pain, bone pain and osteoarthritis. An important gene associated with Gaucher Disease, Type I is GBA (Glucosylceramidase Beta), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. The drugs Alfacalcidol and vitamin d have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and endothelial, and related phenotypes are growth/size/body region and homeostasis/metabolism

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.

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 : 66 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.

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 all 31)
id Related Disease Score Top Affiliating Genes
1 gaucher disease, type iii 34.1 GBA PSAP
2 gaucher disease, type iiic 33.7 GBA PSAP
3 gaucher disease, type ii 30.3 ACP5 ADA ARSA CCL18 CHIA CHIT1
4 gaucher disease, perinatal lethal 12.3
5 gaucher disease, atypical 12.2
6 gardner-diamond syndrome 11.5
7 gaucher's disease 11.4
8 chromosome breakage syndromes 10.3 CHIT1 GBA
9 serous or mucinous cystadenoma of childhood 10.2 GALC PSAP
10 diffuse large b-cell lymphoma of the central nervous system 10.2 ARSA PSAP
11 follicular cholangitis and pancreatitis 10.2 ARSA PSAP
12 primary cutaneous anaplastic large cell lymphoma 10.2 ARSA PSAP
13 spina bifida occulta 10.2 ARSA PSAP
14 spastic ectropion 10.1 CHIA HEXA
15 partial motor epilepsy 10.1 HEXA PSAP
16 47,xyy syndrome 10.1 CHIT1 PSAP SMPD1
17 glioma susceptibility 4 10.1 ARSA HEXA PSAP
18 rickets due to defect in vitamin d 25-hydroxylation 10.1 CHIT1 SMPD1
19 pediatric lymphoma 10.1 ADA GBA
20 osteochondrosis 10.1 CHIT1 GBA PSAP SMPD1
21 hypertelorism, preauricular sinus, punctal pits, and deafness 10.0 ARSA CHIT1 GALC PSAP
22 posterior uveal melanoma 10.0 GBA GLA HEXA
23 mitochondrial dna depletion syndrome 1 10.0 ARSA GALC HEXA PSAP
24 idiopathic progressive polyneuropathy 10.0 ARSA GALC PSAP
25 pulmonary arteriovenous fistulas 9.7
26 arteriovenous fistula 9.7
27 growth hormone deficiency 9.7
28 mannosidosis 9.6 ARSA GALC GBA GLA HEXA SMPD1
29 mononeuritis of lower limb 9.3 ARSA GALC GBA GBA3 GLA HEXA
30 dysostosis 9.2 ARSA GALC GBA GBA3 GLA HEXA
31 hypothalamic disease 8.5 ACP5 ADA ARSA CCL18 CHIA CHIT1

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 by clinical synopsis from OMIM:

230800

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 abdominal pain 56 32 Frequent (79-30%) HP:0002027
2 bone pain 56 32 Very frequent (99-80%) HP:0002653
3 osteoarthritis 56 32 Occasional (29-5%) HP:0002758
4 osteopenia 56 32 Very frequent (99-80%) HP:0000938
5 kyphosis 56 32 Frequent (79-30%) HP:0002808
6 splenomegaly 56 32 Very frequent (99-80%) HP:0001744
7 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
8 delayed skeletal maturation 56 32 Very frequent (99-80%) HP:0002750
9 aseptic necrosis 56 32 Very frequent (99-80%) HP:0010885
10 proteinuria 56 32 Occasional (29-5%) HP:0000093
11 delayed puberty 56 32 Very frequent (99-80%) HP:0000823
12 ascites 56 32 Occasional (29-5%) HP:0001541
13 anemia 56 32 Frequent (79-30%) HP:0001903
14 pancytopenia 56 32 Frequent (79-30%) HP:0001876
15 pathologic fracture 56 32 Occasional (29-5%) HP:0002756
16 cirrhosis 56 32 Occasional (29-5%) HP:0001394
17 thrombocytopenia 56 32 Very frequent (99-80%) HP:0001873
18 hypersplenism 56 32 Very frequent (99-80%) HP:0001971
19 anorexia 56 32 Very frequent (99-80%) HP:0002039
20 hematuria 56 32 Occasional (29-5%) HP:0000790
21 abnormality of the myocardium 56 32 Occasional (29-5%) HP:0001637
22 bruising susceptibility 56 32 Frequent (79-30%) HP:0000978
23 gingival bleeding 56 32 Frequent (79-30%) HP:0000225
24 increased bone mineral density 56 32 Very frequent (99-80%) HP:0011001
25 osteolysis 56 32 Very frequent (99-80%) HP:0002797
26 edema of the lower limbs 56 32 Occasional (29-5%) HP:0010741
27 increased antibody level in blood 56 32 Occasional (29-5%) HP:0010702
28 leukopenia 56 32 Occasional (29-5%) HP:0001882
29 vertebral compression fractures 56 32 Occasional (29-5%) HP:0002953
30 pericardial effusion 56 32 Occasional (29-5%) HP:0001698
31 biliary tract obstruction 56 32 Occasional (29-5%) HP:0005230
32 dyspnea 32 HP:0002094
33 pulmonary hypertension 56 Occasional (29-5%)
34 growth delay 56 Very frequent (99-80%)
35 epistaxis 32 HP:0000421
36 pulmonary infiltrates 32 HP:0002113
37 interstitial pulmonary disease 56 Occasional (29-5%)
38 hyperpigmentation of the skin 32 HP:0000953
39 multiple myeloma 32 HP:0006775
40 pulmonary arterial hypertension 32 HP:0002092
41 erlenmeyer flask deformity of the femurs 32 HP:0004975
42 macular atrophy 32 HP:0007401
43 interstitial pulmonary abnormality 32 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 growth/size/body region MP:0005378 10.06 ADA CHIA GALC GBA GLA HEXA
2 homeostasis/metabolism MP:0005376 10.03 ADA ARSA GALC GBA GLA HEXA
3 immune system MP:0005387 9.85 ADA ARSA CHIT1 GALC GBA GLA
4 liver/biliary system MP:0005370 9.5 ADA GALC GBA GLA HEXA PSAP
5 renal/urinary system MP:0005367 9.17 ADA GALC GLA HEXA PSAP SCARB2

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 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
2 vitamin d Phase 4,Phase 2
3 Vitamins Phase 4,Phase 2
4 Bone Density Conservation Agents Phase 4
5 Hydroxycholecalciferols Phase 4
6 Micronutrients Phase 4
7 Trace Elements Phase 4
8
Miglustat Approved Phase 3 72599-27-0 51634
9
Eliglustat Approved Phase 3,Phase 2 491833-29-5 23652731
10
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
11
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
14
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
15 tannic acid Approved, Nutraceutical Phase 3
16
1-Deoxynojirimycin Experimental Phase 3 19130-96-2 1374
17 Anti-HIV Agents Phase 3
18 Anti-Infective Agents Phase 3,Phase 2
19 Anti-Retroviral Agents Phase 3
20 Antiviral Agents Phase 3,Phase 2
21 Cardiac Glycosides Phase 3
22 Glycoside Hydrolase Inhibitors Phase 3
23 Hypoglycemic Agents Phase 3
24 Alkylating Agents Phase 2, Phase 3
25 Antilymphocyte Serum Phase 2, Phase 3
26 Antineoplastic Agents, Alkylating Phase 2, Phase 3
27 Antirheumatic Agents Phase 2, Phase 3
28 Immunosuppressive Agents Phase 2, Phase 3
29 Methylprednisolone acetate Phase 2, Phase 3
30 Methylprednisolone Hemisuccinate Phase 2, Phase 3
31 Prednisolone acetate Phase 2, Phase 3
32 Prednisolone hemisuccinate Phase 2, Phase 3
33 Prednisolone phosphate Phase 2, Phase 3
34
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
35
Ambroxol Approved Phase 1, Phase 2 18683-91-5
36
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
37 Antidotes Phase 2
38 Anti-Inflammatory Agents Phase 2
39 Antioxidants Phase 2
40 Expectorants Phase 2,Phase 1
41 N-monoacetylcystine Phase 2
42 Protective Agents Phase 2
43 Respiratory System Agents Phase 2,Phase 1
44
Dopamine Approved 51-61-6, 62-31-7 681
45
Methamphetamine Approved, Illicit 537-46-2 10836
46
Imidacloprid 105827-78-9 86418
47 Interferon-gamma
48 interferons
49 Antibodies
50 Autoantibodies

Interventional clinical trials:

(show top 50) (show all 52)
id Name Status NCT ID Phase
1 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4
2 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4
3 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
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
5 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4
6 Oral Miglustat in Adult Patients With Stable Type 1 Gaucher Disease Completed NCT00319046 Phase 3
7 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE) Completed NCT00891202 Phase 3
8 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
9 Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02770625 Phase 3
10 An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher Disease Completed NCT00635427 Phase 3
11 A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE) Completed NCT01074944 Phase 3
12 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
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
16 Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
17 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
18 Skeletal Response to Eliglustat in Patients With Gaucher Disease Enrolling by invitation NCT02536755 Phase 3
19 The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher Disease Withdrawn NCT01161914 Phase 3
20 A Long-Term Extension Study of AT2101 in Type 1 Gaucher Patients Completed NCT00813865 Phase 2
21 A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher Disease Completed NCT02053896 Phase 2
22 Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement Therapy Completed NCT00433147 Phase 2
23 Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT) Completed NCT00391625 Phase 1, Phase 2
24 A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher Patients Completed NCT00358150 Phase 2
25 Bone Response to Enzyme Replacement in Gaucher's Disease Completed NCT00001416 Phase 2
26 Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher Disease Completed NCT01685216 Phase 1, Phase 2
27 A Study of Oral AT2101 in Treatment-naive Patients With Gaucher Disease Completed NCT00446550 Phase 2
28 Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1) Recruiting NCT02583672 Phase 2
29 GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3 Recruiting NCT02843035 Phase 2
30 Clinical Trial of Ambroxol in Patients With Type I Gaucher Disease Suspended NCT01463215 Phase 1, Phase 2
31 PEG-Glucocerebrosidase for the Treatment of Gaucher Disease Completed NCT00001410 Phase 1
32 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
33 Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming Cells Completed NCT00001234 Phase 1
34 Human Placental-Derived Stem Cell Transplantation Recruiting NCT01586455 Phase 1
35 A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101 Terminated NCT00875160 Phase 1
36 Examining the Immune Response in Patients With Gaucher Disease and Hepatitis C Unknown status NCT01274208
37 Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell Transplantation Unknown status NCT00005900
38 Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher Disease Approved for marketing NCT00954460
39 Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1) Completed NCT01136304
40 Auto-antibodies Prevalence and CD1 Role in Gaucher Disease Completed NCT02650219
41 Comparison of BMD Measurement by DEXA to BeamMed Speed-of-Sound Measurement at Forearm in Patients With Gaucher Disease Completed NCT02067247
42 Study to Evaluate Blood Cell Lines From Patients With Gaucher Disease Completed NCT00351156
43 Effects of Enzyme Replacement in Gaucher's Disease Completed NCT00001289
44 A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease Completed NCT00465062
45 LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher Disease Recruiting NCT02416661
46 Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary Study Recruiting NCT02437396
47 International Collaborative Gaucher Group (ICGG) Gaucher Registry Recruiting NCT00358943
48 Thrombocytopathy in Gaucher Disease Patients Recruiting NCT01344096
49 SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher Disease Recruiting NCT02605603
50 Miglustat on Gaucher Disease Type IIIB Recruiting NCT02520934

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, Endothelial, Liver, Brain, 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:

66 (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 rs2230289
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_000157.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic,risk factor rs421016 GRCh37 Chromosome 1, 155205043: 155205043
2 GBA NM_001005741.2(GBA): c.1226A> G (p.Asn409Ser) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs76763715 GRCh37 Chromosome 1, 155205634: 155205634
3 GBA NM_000157.3(GBA): c.476G> A (p.Arg159Gln) single nucleotide variant Pathogenic rs79653797 GRCh37 Chromosome 1, 155208420: 155208420
4 GBA NM_001005741.2(GBA): c.1297G> T (p.Val433Leu) single nucleotide variant Pathogenic/Likely pathogenic rs80356769 GRCh37 Chromosome 1, 155205563: 155205563
5 GBA NM_000157.3(GBA): c.1342G> C (p.Asp448His) single nucleotide variant Pathogenic rs1064651 GRCh37 Chromosome 1, 155205518: 155205518
6 GBA NM_000157.3(GBA): c.1343A> T (p.Asp448Val) single nucleotide variant Pathogenic/Likely pathogenic rs77369218 GRCh37 Chromosome 1, 155205517: 155205517
7 GBA NM_000157.3(GBA): c.1504C> T (p.Arg502Cys) single nucleotide variant Pathogenic,risk factor rs80356771 GRCh37 Chromosome 1, 155204987: 155204987
8 GBA NM_001005741.2(GBA): c.254G> A (p.Gly85Glu) single nucleotide variant Pathogenic rs77829017 GRCh37 Chromosome 1, 155209730: 155209730
9 GBA NM_001005741.2(GBA): c.764T> A (p.Phe255Tyr) single nucleotide variant Pathogenic rs74500255 GRCh37 Chromosome 1, 155207367: 155207367
10 GBA NM_001005741.2(GBA): c.586A> C (p.Lys196Gln) single nucleotide variant Pathogenic rs121908297 GRCh37 Chromosome 1, 155208310: 155208310
11 GBA NM_000157.3(GBA): c.754T> A (p.Phe252Ile) single nucleotide variant Pathogenic rs381737 GRCh37 Chromosome 1, 155207932: 155207932
12 GBA NM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18) duplication Pathogenic rs387906315 GRCh37 Chromosome 1, 155210452: 155210452
13 GBA NM_000157.3(GBA): c.27+1G> A single nucleotide variant Pathogenic rs80356759 GRCh37 Chromosome 1, 155210876: 155210876
14 GBA NM_001005741.2(GBA): c.983C> T (p.Pro328Leu) single nucleotide variant Pathogenic rs121908298 GRCh37 Chromosome 1, 155207148: 155207148
15 GBA NM_001005741.2(GBA): c.1085C> T (p.Thr362Ile) single nucleotide variant Pathogenic rs76539814 GRCh37 Chromosome 1, 155206175: 155206175
16 GBA NM_001005741.2(GBA): c.72delC (p.Leu25Serfs) deletion Pathogenic rs397518433 GRCh37 Chromosome 1, 155210464: 155210464
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.93_94insG (p.Gln32Alafs) insertion Pathogenic rs80356760 GRCh38 Chromosome 1, 155240651: 155240652
37 GBA NM_000157.3(GBA): c.1505G> A (p.Arg502His) single nucleotide variant Pathogenic/Likely pathogenic rs80356772 GRCh37 Chromosome 1, 155204986: 155204986
38 GBA NM_000157.3(GBA): c.703T> C (p.Ser235Pro) single nucleotide variant Pathogenic rs1064644 GRCh37 Chromosome 1, 155207983: 155207983
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

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 region GO:0005576 9.97 ARSA CCL18 CHIA CHIT1 GH1 GLA
2 extracellular exosome GO:0070062 9.96 ACP5 ARSA GALC GBA GLA HEXA
3 extracellular space GO:0005615 9.81 ADA ARSA CCL18 CHIA CHIT1 GBA
4 lysosomal lumen GO:0043202 9.56 ARSA GALC GBA GLA HEXA PSAP
5 lysosome GO:0005764 9.36 ACP5 ADA ARSA CHIT1 GALC GBA

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 9.81 ARSA CHIA CHIT1 GALC GBA GLA
2 negative regulation of inflammatory response GO:0050728 9.67 ACP5 ADA GBA
3 sphingolipid metabolic process GO:0006665 9.56 GALC GBA PSAP UGCG
4 carbohydrate metabolic process GO:0005975 9.56 CHIA CHIT1 GALC GBA GBA3 GLA
5 ceramide biosynthetic process GO:0046513 9.55 GBA SMPD1
6 positive regulation of protein dephosphorylation GO:0035307 9.54 GBA SMPD1
7 response to pH GO:0009268 9.52 ARSA GBA
8 negative regulation of nitric oxide biosynthetic process GO:0045019 9.51 ACP5 GLA
9 chitin catabolic process GO:0006032 9.48 CHIA CHIT1
10 glycoside catabolic process GO:0016139 9.46 GBA3 GLA
11 termination of signal transduction GO:0023021 9.43 GBA SMPD1
12 glycosylceramide catabolic process GO:0046477 9.4 GBA3 GLA
13 polysaccharide catabolic process GO:0000272 9.37 CHIA CHIT1
14 chitin metabolic process GO:0006030 9.32 CHIA CHIT1
15 glycosphingolipid metabolic process GO:0006687 9.28 ARSA GALC GBA GBA3 GLA HEXA

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 GO:0016787 9.65 ACP5 ADA ARSA CHIA CHIT1 GALC
2 chitin binding GO:0008061 9.4 CHIA CHIT1
3 chitinase activity GO:0004568 9.37 CHIA CHIT1
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.33 CHIA CHIT1 GLA
5 beta-galactosidase activity GO:0004565 9.32 GBA3 PSAP
6 glucosylceramidase activity GO:0004348 9.26 GBA GBA3
7 hydrolase activity, acting on glycosyl bonds GO:0016798 9.17 CHIA CHIT1 GALC GBA GLA HEXA

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
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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