MCID: LYS002
MIFTS: 55

Lysosomal Storage Disease

Categories: Metabolic diseases

Aliases & Classifications for Lysosomal Storage Disease

MalaCards integrated aliases for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 38 12 76 37 15
Lysosomal Storage Diseases 55 44 73
Lysosomal Storage Metabolism Disorder 12
Inborn Lysosomal Enzyme Disorder 12
Disorder of Lysosomal Enzyme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3211
MeSH 44 D016464
NCIt 50 C61250
SNOMED-CT 68 23585005
KEGG 37 H01425
UMLS 73 C0085078

Summaries for Lysosomal Storage Disease

Disease Ontology : 12 An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

MalaCards based summary : Lysosomal Storage Disease, also known as lysosomal storage diseases, is related to fucosidosis and mucopolysaccharidosis, type vii. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Lysosome and Metabolism. The drugs Cyclophosphamide and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : 76 Lysosomal storage diseases (LSDs; /�?laɪs�?�?so�?m�?l/) are a group of about 50 rare inherited metabolic... more...

Related Diseases for Lysosomal Storage Disease

Diseases related to Lysosomal Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 fucosidosis 33.0 AGA CTSA FUCA1 GAA HEXA NAGLU
2 mucopolysaccharidosis, type vii 32.8 GLB1 GUSB HEXA IDUA SGSH
3 galactosialidosis 32.7 CTSA GLB1 NEU1
4 aspartylglucosaminuria 32.5 AGA CTSA GAA HEXA
5 mannosidosis, alpha b, lysosomal 32.5 CTSA GAA HEXA MAN2B1
6 neuraminidase deficiency 32.4 CTSA GLB1 NEU1
7 mucopolysaccharidosis, type iiia 32.2 NAGLU SGSH
8 hurler syndrome 32.2 GLB1 IDUA
9 mannosidosis, beta a, lysosomal 32.1 CTSA GAA HEXA MAN2B1
10 mucopolysaccharidosis, type ii 31.9 ARSA GAA IDS
11 mucolipidosis ii alpha/beta 31.9 FUCA1 GUSB NEU1
12 mucolipidosis iii alpha/beta 31.9 FUCA1 GUSB
13 gaucher disease, perinatal lethal 31.9 CTSA GBA HEXA
14 mucopolysaccharidosis iii 31.9 HGSNAT NAGLU SGSH
15 mucopolysaccharidosis, type vi 31.9 ARSA ARSB GAA GUSB
16 tay-sachs disease 31.8 ARSA CTSA GLB1 HEXA NEU1
17 inclusion-cell disease 31.8 ARSA CTSA GLB1
18 mucopolysaccharidosis-plus syndrome 31.8 ARSB GUSB HEXA IDS IDUA NAGLU
19 glycoproteinosis 31.7 CTSA GAA GLB1 NEU1
20 metachromatic leukodystrophy 31.7 ARSA ARSB HEXA
21 lipid storage disease 31.5 ARSA CLN3 GBA GLB1 HEXA TPP1
22 scheie syndrome 31.5 CTSA GAA GLB1 HEXA IDUA NAGLU
23 mannosidosis 30.9 MAN2B1 SGSH
24 hydrops fetalis 30.8 GBA GUSB
25 mucopolysaccharidoses 30.5 GUSB IDUA NAGLU
26 hydrops fetalis, nonimmune 30.4 GUSB NEU1
27 gangliosidosis gm1 30.4 ARSA CTSA GLB1 HEXA NEU1
28 gangliosidosis gm2 30.1 CTSA GLB1 HEXA
29 mucolipidosis iv 30.0 CTSA GLB1 HEXA
30 inherited metabolic disorder 29.6 ARSA CLN3 GAA GBA HEXA IDUA
31 fabry disease 11.6
32 cystinosis 11.5
33 gm1-gangliosidosis, type i 11.5
34 krabbe disease 11.4
35 ceroid lipofuscinosis, neuronal, 1 11.4
36 mucopolysaccharidosis, type iiic 11.3
37 mucopolysaccharidosis, type iiid 11.3
38 mucopolysaccharidosis, type iiib 11.2
39 mucopolysaccharidosis, type iva 11.2
40 hurler-scheie syndrome 11.2
41 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 11.1
42 ceroid lipofuscinosis, neuronal, 3 11.1
43 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 11.1
44 ceroid lipofuscinosis, neuronal, 2 11.1
45 cystinosis, adult nonnephropathic 11.1
46 cystinosis, nephropathic 11.1
47 cystinosis, late-onset juvenile or adolescent nephropathic type 11.1
48 gm1-gangliosidosis, type ii 11.1
49 gaucher disease, type i 11.1
50 gaucher disease, type iii 11.1

Graphical network of the top 20 diseases related to Lysosomal Storage Disease:



Diseases related to Lysosomal Storage Disease

Symptoms & Phenotypes for Lysosomal Storage Disease

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

46 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.58 AGA ARSA ARSB CLN3 CTNS CTSA
2 cellular MP:0005384 10.52 AGA ARSB CLN3 CTNS CTSA FUCA1
3 homeostasis/metabolism MP:0005376 10.49 AGA ARSA ARSB CLN3 CTNS CTSA
4 growth/size/body region MP:0005378 10.39 AGA ARSB CTSA GAA GBA GLB1
5 hematopoietic system MP:0005397 10.37 ARSA ARSB CLN3 CTSA GBA GLB1
6 mortality/aging MP:0010768 10.28 AGA CLN3 CTSA GBA GLB1 GUSB
7 cardiovascular system MP:0005385 10.27 ARSB CTSA GAA GBA HGSNAT IDUA
8 immune system MP:0005387 10.27 ARSA CLN3 CTSA GBA GLB1 HGSNAT
9 liver/biliary system MP:0005370 10.27 AGA CLN3 CTSA GBA GLB1 HEXA
10 nervous system MP:0003631 10.27 AGA ARSA ARSB CLN3 FUCA1 GBA
11 renal/urinary system MP:0005367 10.22 AGA ARSB CLN3 CTNS CTSA FUCA1
12 integument MP:0010771 10.18 AGA CTSA GBA GUSB IDS IDUA
13 craniofacial MP:0005382 10.16 ARSB CTSA GUSB HEXA IDS IDUA
14 hearing/vestibular/ear MP:0005377 10.08 ARSA ARSB GUSB HEXA IDUA MAN2B1
15 muscle MP:0005369 10.01 ARSB CTNS GAA IDS IDUA MAN2B1
16 reproductive system MP:0005389 9.86 ARSB CLN3 CTSA GLB1 GUSB HEXA
17 skeleton MP:0005390 9.77 ARSB CTNS GAA GBA GLB1 GUSB
18 respiratory system MP:0005388 9.7 ARSB CTSA GBA HGSNAT IDS NEU1
19 vision/eye MP:0005391 9.32 ARSB CLN3 CTNS HEXA IDS IDUA

Drugs & Therapeutics for Lysosomal Storage Disease

Drugs for Lysosomal Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 228)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3 6055-19-2, 50-18-0 2907
2
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
3
rituximab Approved Phase 4,Phase 2,Phase 1 174722-31-7 10201696
4
leucovorin Approved Phase 4,Phase 1,Phase 2 58-05-9 6006 143
5
Methotrexate Approved Phase 4 59-05-2, 1959-05-2 126941
6
Miglustat Approved Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 72599-27-0 51634
7
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
8
Sofosbuvir Approved Phase 4 1190307-88-0 45375808
9
Ledipasvir Approved Phase 4 1256388-51-8 67505836
10
Desipramine Approved, Investigational Phase 4 50-47-5 2995
11
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 59-30-3 6037
12
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
13
Ergocalciferol Approved, Nutraceutical Phase 4,Not Applicable 50-14-6 5280793
14
1-Deoxynojirimycin Experimental, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
15 Immunologic Factors Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
17 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
18 Protective Agents Phase 4,Phase 1,Phase 2
19 Respiratory System Agents Phase 4,Phase 1,Phase 2
20 Antioxidants Phase 4,Phase 1,Phase 2
21 Expectorants Phase 4,Phase 1,Phase 2
22 N-monoacetylcystine Phase 4,Phase 1,Phase 2
23 Antidotes Phase 4,Phase 1,Phase 2
24 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
25 Free Radical Scavengers Phase 4,Phase 1,Phase 2
26 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
27 cysteine Phase 4,Phase 1,Phase 2
28 Autonomic Agents Phase 4,Phase 2,Phase 1,Not Applicable
29 Albuterol Phase 4,Phase 1,Phase 2
30 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
31 Adrenergic Agonists Phase 4,Phase 1,Phase 2
32 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
33 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
34 Tocolytic Agents Phase 4,Phase 1,Phase 2
35 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
36 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
37 Adrenergic Agents Phase 4,Phase 2,Phase 1,Not Applicable
38 Bronchodilator Agents Phase 4,Phase 1,Phase 2
39 Vitamin B9 Phase 4,Phase 1,Phase 2
40 Folate Phase 4,Phase 1,Phase 2
41 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1,Not Applicable
42 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
43 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
44 Folic Acid Antagonists Phase 4,Phase 1,Phase 2
45 Dermatologic Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Antimetabolites Phase 4,Phase 2,Phase 1,Not Applicable
47 Vitamin B Complex Phase 4,Phase 1,Phase 2
48 Antibodies Phase 4,Phase 1,Phase 2
49 Immunoglobulins Phase 4,Phase 1,Phase 2
50 Micronutrients Phase 4,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 621)
# Name Status NCT ID Phase Drugs
1 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
2 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4 recombinant alpha-galactosidase A
3 Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy Completed NCT00607386 Phase 4
4 Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease Completed NCT00364858 Phase 4 Cerezyme
5 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4 N acetyl cysteine;N acetyl cysteine
6 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4 Salbutamol
7 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4 Enzyme replacement
8 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
9 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
10 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4 Taliglucerase alfa
11 An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease Completed NCT00701129 Phase 4 Methotrexate;Rituximab
12 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
13 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
14 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)
15 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
16 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
17 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
18 A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease Completed NCT00074984 Phase 4
19 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
20 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
21 A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients Completed NCT00144768 Phase 4 laronidase
22 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
23 Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment Recruiting NCT03687333 Phase 4 ALGLUCOSIDASE ALFA (MYOZYME)
24 Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease Recruiting NCT03702361 Phase 4 VPRIV
25 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Recruiting NCT03021941 Phase 4 Elelyso 60 units/kg
26 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
27 Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease Recruiting NCT02574286 Phase 4 Velaglucerase alfa
28 Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease. Recruiting NCT03721627 Phase 4 Ledipasvir/Sofosbuvir
29 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
30 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
31 A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants Recruiting NCT00418821 Phase 4
32 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
33 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
34 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Active, not recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
35 Desipramine in Infantile Neuroaxonal Dystrophy (INAD). Enrolling by invitation NCT03726996 Phase 4 Desipramine
36 A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease Terminated NCT01597596 Phase 4
37 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4 Alglucosidase alfa
38 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
39 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
40 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4 Fabrazyme (agalsidase beta)
41 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
42 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
43 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
44 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3 Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
45 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
46 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
47 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
48 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
49 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
50 Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment Completed NCT02055118 Phase 2, Phase 3

Search NIH Clinical Center for Lysosomal Storage Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Lysosomal Storage Disease cell therapies at LifeMap Discovery.

Cochrane evidence based reviews: lysosomal storage diseases

Genetic Tests for Lysosomal Storage Disease

Anatomical Context for Lysosomal Storage Disease

MalaCards organs/tissues related to Lysosomal Storage Disease:

41
Liver, Bone, Brain, Bone Marrow, Skin, Small Intestine, Kidney

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 437)
# Title Authors Year
1
THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO). ( 29900785 )
2018
2
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
3
Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. ( 29323117 )
2018
4
Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. ( 30369755 )
2018
5
Cigarette smoke extract may induce lysosomal storage disease-like adverse health effects. ( 30485468 )
2018
6
UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. ( 30201803 )
2018
7
Subcellular Nanorheology Reveals Lysosomal Viscosity as a Reporter for Lysosomal Storage Diseases. ( 29313356 )
2018
8
Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders. ( 29342918 )
2018
9
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. ( 29396849 )
2018
10
The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases. ( 29447902 )
2018
11
Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases. ( 29491402 )
2018
12
Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones. ( 29719681 )
2018
13
Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases. ( 29750286 )
2018
14
Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil. ( 29870571 )
2018
15
The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. ( 29930972 )
2018
16
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. ( 30093709 )
2018
17
Fundamentals of CNS energy metabolism and alterations in lysosomal storage diseases. ( 30144055 )
2018
18
Lysosomal storage diseases. ( 30275469 )
2018
19
Author Correction: Lysosomal storage diseases. ( 30337566 )
2018
20
Gene therapy for lysosomal storage diseases and peroxisomal diseases. ( 30498239 )
2018
21
Enzyme enhancement therapeutics for lysosomal storage diseases: Current status and perspective. ( 30528228 )
2018
22
Clinical implementation of gene panel testing for lysosomal storage diseases. ( 30548430 )
2018
23
Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease. ( 29180785 )
2017
24
Swainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina. ( 28093222 )
2017
25
Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. ( 28266544 )
2017
26
An improved purification method for the lysosomal storage disease protein I^-glucuronidase produced in CHO cells. ( 28734840 )
2017
27
Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases. ( 27881461 )
2017
28
Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review. ( 28019087 )
2017
29
Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases. ( 28081172 )
2017
30
From Lysosomal Storage Diseases to NKT Cell Activation and Back. ( 28245613 )
2017
31
Oral Health Status of Patients with Lysosomal Storage Diseases in Poland. ( 28282939 )
2017
32
Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory. ( 28304074 )
2017
33
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. ( 28477283 )
2017
34
Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. ( 28703315 )
2017
35
Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil. ( 28721335 )
2017
36
Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs. ( 28730181 )
2017
37
Lysosomal Storage Diseases: Past, Present, and Future. ( 28817523 )
2017
38
Exacerbating and reversing lysosomal storage diseases: from yeast to humans. ( 28913343 )
2017
39
Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment? ( 28923328 )
2017
40
A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells. ( 28933359 )
2017
41
Lysosomal storage diseases. ( 29152458 )
2017
42
Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases. ( 29163032 )
2017
43
Dysregulation of autophagy as a common mechanism in lysosomal storage diseases. ( 29233882 )
2017
44
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. ( 27658524 )
2016
45
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )
2016
46
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
47
The lysosomal storage disease continuum with ageing-related neurodegenerative disease. ( 27516378 )
2016
48
Astrocytes and lysosomal storage diseases. ( 26037807 )
2016
49
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. ( 26597321 )
2016
50
Modifying blood-brain barrier transport to bring hope for patients with lysosomal storage diseases. ( 26661227 )
2016

Variations for Lysosomal Storage Disease

Expression for Lysosomal Storage Disease

Search GEO for disease gene expression data for Lysosomal Storage Disease.

Pathways for Lysosomal Storage Disease

Pathways related to Lysosomal Storage Disease according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142

Pathways related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 ARSA ARSB CTSA GAA GBA GLB1
2
Show member pathways
13.77 AGA ARSA ARSB CTSA FUCA1 GAA
3
Show member pathways
12.71 ARSB GAA GLB1 GUSB HEXA IDS
4
Show member pathways
12.43 ARSB GLB1 GUSB HEXA IDS IDUA
5
Show member pathways
12.32 ARSA ARSB CTSA GBA GLB1 HEXA
6 12.25 AGA ARSA ARSB CLN3 CTNS CTSA
7
Show member pathways
10.91 ARSB GLB1 GUSB HEXA HGSNAT IDS
8
Show member pathways
10.9 GLB1 HEXA
9 10.42 AGA FUCA1 GBA GLB1 HEXA MAN2B1

GO Terms for Lysosomal Storage Disease

Cellular components related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.93 AGA ARSA ARSB CLN3 CTNS CTSA
2 lysosomal membrane GO:0005765 9.87 CLN3 CTNS CTSA GAA GBA HGSNAT
3 azurophil granule lumen GO:0035578 9.76 AGA ARSA ARSB CTSA FUCA1 GLB1
4 ficolin-1-rich granule lumen GO:1904813 9.58 ARSB GLB1 GUSB
5 lysosomal lumen GO:0043202 9.53 ARSA ARSB CTSA FUCA1 GAA GBA
6 vacuolar membrane GO:0005774 9.43 CTNS MAN2B1
7 extracellular exosome GO:0070062 10.16 ARSA ARSB CTNS CTSA FUCA1 GAA
8 extracellular region GO:0005576 10.02 AGA ARSA ARSB CTSA FUCA1 GLB1

Biological processes related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.9 AGA ARSA ARSB CTSA FUCA1 GAA
2 carbohydrate metabolic process GO:0005975 9.86 FUCA1 GAA GLB1 GUSB HEXA IDUA
3 lysosome organization GO:0007040 9.77 ARSB CLN3 GAA NAGLU TPP1
4 glycosphingolipid metabolic process GO:0006687 9.72 ARSA CTSA GLB1 HEXA NEU1
5 chondroitin sulfate catabolic process GO:0030207 9.71 ARSB HEXA IDS IDUA
6 response to estrogen GO:0043627 9.67 ARSA ARSB GBA
7 metabolic process GO:0008152 9.65 FUCA1 GAA GBA GLB1 GUSB HEXA
8 neuromuscular process controlling balance GO:0050885 9.63 CLN3 GAA TPP1
9 response to pH GO:0009268 9.61 ARSA ARSB GBA
10 hyaluronan catabolic process GO:0030214 9.56 GUSB HEXA
11 lysosomal transport GO:0007041 9.55 ARSB HGSNAT
12 keratan sulfate catabolic process GO:0042340 9.54 GLB1 HEXA
13 oligosaccharide catabolic process GO:0009313 9.52 MAN2B1 NEU1
14 protein deglycosylation GO:0006517 9.51 AGA MAN2B1
15 response to methylmercury GO:0051597 9.48 ARSA ARSB
16 glycosaminoglycan catabolic process GO:0006027 9.23 FUCA1 GLB1 GUSB HGSNAT IDS IDUA

Molecular functions related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.89 AGA ARSA ARSB CTSA FUCA1 GAA
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.5 GAA GLB1 IDUA
3 sulfuric ester hydrolase activity GO:0008484 9.46 ARSA ARSB IDS SGSH
4 exo-alpha-sialidase activity GO:0004308 9.43 CTSA GLB1 NEU1
5 arylsulfatase activity GO:0004065 9.37 ARSA ARSB
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.32 FUCA1 GAA GBA GLB1 GUSB HEXA

Sources for Lysosomal Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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