MCID: LYS002
MIFTS: 56

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 15
Lysosomal Storage Diseases 37 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 galactosialidosis 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 Cysteamine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : 76 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) 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 105)
# Related Disease Score Top Affiliating Genes
1 galactosialidosis 33.1 CTSA GLB1 NEU1
2 mucopolysaccharidosis, type vii 32.9 GLB1 GUSB HEXA IDUA SGSH
3 aspartylglucosaminuria 32.7 AGA CTSA GAA
4 hurler syndrome 32.7 GLB1 IDUA
5 fucosidosis 32.6 AGA CTSA FUCA1 GAA HEXA NAGLU
6 mucopolysaccharidosis, type iiia 32.6 NAGLU SGSH
7 glycoproteinosis 32.5 CTSA GLB1 NEU1
8 mucolipidosis ii alpha/beta 32.4 FUCA1 GUSB NEU1
9 mannosidosis, alpha b, lysosomal 32.3 CTSA GAA HEXA MAN2B1
10 mucopolysaccharidosis iii 32.3 HGSNAT NAGLU SGSH
11 mucolipidosis iii alpha/beta 32.2 FUCA1 GUSB
12 mucopolysaccharidosis, type ii 32.0 ARSA GAA IDS
13 inclusion-cell disease 31.9 ARSA CTSA GLB1
14 mannosidosis, beta a, lysosomal 31.9 CTSA GAA HEXA MAN2B1
15 metachromatic leukodystrophy 31.7 ARSA ARSB HEXA
16 mucopolysaccharidosis type vi 31.7 ARSA ARSB GAA GUSB
17 tay-sachs disease 31.6 ARSA CTSA GLB1 HEXA NEU1
18 mucopolysaccharidosis-plus syndrome 31.4 ARSB GUSB HEXA IDS IDUA NAGLU
19 mannosidosis 31.2 MAN2B1 SGSH
20 lipid storage disease 31.2 ARSA CLN3 GBA GLB1 HEXA TPP1
21 immune hydrops fetalis 31.0 GBA GUSB
22 gangliosidosis gm1 31.0 GLB1 HEXA NEU1
23 hydrops fetalis 31.0 GBA GUSB
24 scheie syndrome 30.9 CTSA GAA GLB1 HEXA IDUA NAGLU
25 mucolipidosis iv 30.3 CTSA GLB1 HEXA
26 neuraminidase deficiency 11.4
27 cystinosis 11.4
28 gm1-gangliosidosis, type i 11.4
29 krabbe disease 11.2
30 ceroid lipofuscinosis, neuronal, 1 11.2
31 niemann-pick disease, type c1 11.2
32 mucopolysaccharidosis, type iiic 11.2
33 mucopolysaccharidosis, type iiid 11.2
34 mucopolysaccharidosis, type iiib 11.1
35 mucopolysaccharidosis, type iva 11.1
36 hurler-scheie syndrome 11.1
37 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
38 ceroid lipofuscinosis, neuronal, 3 10.9
39 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.9
40 ceroid lipofuscinosis, neuronal, 2 10.9
41 cystinosis, adult nonnephropathic 10.9
42 cystinosis, nephropathic 10.9
43 cystinosis, late-onset juvenile or adolescent nephropathic type 10.9
44 farber lipogranulomatosis 10.9
45 gm1-gangliosidosis, type ii 10.9
46 gaucher disease, type i 10.9
47 gaucher disease, type iii 10.9
48 glycogen storage disease ii 10.9
49 glycoprotein storage disease 10.9
50 mucopolysaccharidosis, type ivb 10.9

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 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.54 GBA HEXA GLB1 HGSNAT GAA GUSB
2 cellular MP:0005384 10.48 GUSB GBA GLB1 HGSNAT GAA MAN2B1
3 homeostasis/metabolism MP:0005376 10.41 GUSB GBA HEXA GLB1 GAA MAN2B1
4 growth/size/body region MP:0005378 10.37 GAA GUSB GBA HEXA GLB1 IDS
5 hematopoietic system MP:0005397 10.31 GUSB GBA GLB1 MAN2B1 IDUA NAGLU
6 cardiovascular system MP:0005385 10.26 GAA GBA CTSA HGSNAT MAN2B1 IDUA
7 immune system MP:0005387 10.23 GBA GLB1 HGSNAT MAN2B1 IDS IDUA
8 mortality/aging MP:0010768 10.21 GUSB GBA HEXA GLB1 HGSNAT IDS
9 liver/biliary system MP:0005370 10.18 GBA HEXA GLB1 MAN2B1 IDUA NAGLU
10 craniofacial MP:0005382 10.14 GUSB HEXA IDS IDUA SGSH NAGLU
11 integument MP:0010771 10.13 GUSB GBA IDS IDUA TPP1 NEU1
12 nervous system MP:0003631 10.13 GBA HEXA GLB1 IDS MAN2B1 IDUA
13 hearing/vestibular/ear MP:0005377 10.05 GUSB HEXA MAN2B1 IDUA NAGLU ARSA
14 renal/urinary system MP:0005367 10 GUSB HEXA GLB1 HGSNAT MAN2B1 IDUA
15 muscle MP:0005369 9.87 GAA IDUA MAN2B1 TPP1 NEU1 CTNS
16 skeleton MP:0005390 9.77 GAA GUSB GBA HEXA GLB1 IDS
17 vision/eye MP:0005391 9.32 HEXA IDS MAN2B1 IDUA NEU1 NAGLU

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show top 50) (show all 216)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 60-23-1 6058
2
Cyclophosphamide Approved, Investigational Phase 4,Phase 2,Phase 3 50-18-0, 6055-19-2 2907
3
Acetylcysteine Approved, Investigational Phase 4,Phase 1,Phase 2 616-91-1 12035
4
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
5
rituximab Approved Phase 4,Phase 2,Phase 1 174722-31-7 10201696
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
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 59-30-3 6037
9
leucovorin Approved, Nutraceutical Phase 4,Phase 1,Phase 2 58-05-9 143 6006
10
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4,Phase 2 1406-16-2
11
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable 19130-96-2 1374
12 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Antidotes Phase 4,Phase 1,Phase 2
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
16 Antioxidants Phase 4,Phase 1,Phase 2
17 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
18 Expectorants Phase 4,Phase 1,Phase 2
19 N-monoacetylcystine Phase 4,Phase 1,Phase 2
20 Protective Agents Phase 4,Phase 1,Phase 2
21 Respiratory System Agents Phase 4,Phase 1,Phase 2
22 Adrenergic Agents Phase 4,Phase 2,Phase 1,Not Applicable
23 Adrenergic Agonists Phase 4,Phase 1,Phase 2
24 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
25 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
26 Albuterol Phase 4,Phase 1,Phase 2
27 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
28 Autonomic Agents Phase 4,Phase 2,Phase 1,Not Applicable
29 Bronchodilator Agents Phase 4,Phase 1,Phase 2
30 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
31 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
32 Tocolytic Agents Phase 4,Phase 1,Phase 2
33 Antimetabolites Phase 4,Phase 2,Phase 1,Not Applicable
34 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1,Not Applicable
35 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
36 Dermatologic Agents Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1
37 Folic Acid Antagonists Phase 4,Phase 1,Phase 2
38 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
39 Vitamin B Complex Phase 4,Phase 1,Phase 2
40 Antibodies Phase 4,Phase 1,Phase 2
41 Immunoglobulins Phase 4,Phase 1,Phase 2
42 Bone Density Conservation Agents Phase 4,Phase 2,Not Applicable
43 Micronutrients Phase 4,Phase 2,Not Applicable
44 Trace Elements Phase 4,Phase 2,Not Applicable
45 Vitamins Phase 4,Phase 2,Not Applicable
46 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
47 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
48 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
49 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
50 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 589)
# 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 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
24 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
25 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
26 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
27 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
28 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
29 Immune Tolerance Induction Study Active, not recruiting NCT00701701 Phase 4
30 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
31 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
32 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
33 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
34 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
35 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
36 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
37 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)
38 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
39 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
40 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
41 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)
42 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
43 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
44 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
45 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
46 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
47 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
48 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
49 A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT02230566 Phase 3 UX003
50 A Double-Blind Study to Evaluate the Efficacy and Safety of BMN 110 in Patients With Mucopolysaccharidosis IVA (Morquio A Syndrome) Completed NCT01275066 Phase 3 BMN 110 Weekly;Placebo;BMN 110 Every Other Week

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.
Stem-cell-based therapeutic approaches for Lysosomal Storage Disease:
ALD-601, umbilical cord blood cells for early infantile-onset lysosomal storage diseases
Hemacord
Embryonic/Adult Cultured Cells Related to Lysosomal Storage Disease:
Umbilical cord blood ALDH+ cells (ALD-151) PMIDs: 17882722
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD PMIDs: 9828244

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
Bone, Liver, Brain, Bone Marrow, Eye, Testes, Kidney

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 208)
# 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
Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease. ( 29180785 )
2017
5
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )
2017
6
Swainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina. ( 28093222 )
2017
7
Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. ( 28266544 )
2017
8
An improved purification method for the lysosomal storage disease protein I^-glucuronidase produced in CHO cells. ( 28734840 )
2017
9
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. ( 27867988 )
2016
10
Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases. ( 29227082 )
2016
11
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. ( 27658524 )
2016
12
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )
2016
13
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
14
The lysosomal storage disease continuum with ageing-related neurodegenerative disease. ( 27516378 )
2016
15
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. ( 27238910 )
2016
16
Innate immune responses in the brain of sphingolipid lysosomal storage diseases. ( 25720063 )
2015
17
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice. ( 25998250 )
2015
18
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. ( 26085577 )
2015
19
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. ( 25586965 )
2015
20
Lysosomal storage disease as an etiology of nonimmune hydrops. ( 25305402 )
2015
21
Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. ( 25410058 )
2015
22
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. ( 25728544 )
2015
23
Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. ( 25741867 )
2015
24
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )
2015
25
Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease. ( 24725025 )
2014
26
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. ( 24432014 )
2014
27
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. ( 24068328 )
2014
28
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. ( 24787480 )
2014
29
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )
2014
30
Lysosomal storage diseases: Stem cell-based cell- and gene-therapy. ( 24853878 )
2014
31
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. ( 24255892 )
2013
32
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. ( 23850077 )
2013
33
Nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120157 )
2013
34
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. ( 24284886 )
2013
35
Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood. ( 24278249 )
2013
36
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. ( 24038957 )
2013
37
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120156 )
2013
38
Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. ( 22588273 )
2012
39
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. ( 22156940 )
2012
40
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
41
Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. ( 22403656 )
2012
42
Gene therapy approaches for lysosomal storage disease: next-generation treatment. ( 22794786 )
2012
43
Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. ( 22990858 )
2012
44
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. ( 22991292 )
2012
45
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. ( 21382365 )
2011
46
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. ( 22216298 )
2011
47
Niemann-Pick C disease: not your average lysosomal storage disease. ( 21205672 )
2011
48
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. ( 21416197 )
2011
49
Invertebrate models of lysosomal storage disease: what have we learned so far? ( 22038288 )
2011
50
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. ( 21859904 )
2011

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 vacuole GO:0005773 9.43 CLN3 GLB1
7 extracellular exosome GO:0070062 10.19 AGA ARSA ARSB CTNS CTSA FUCA1
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 17)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.92 FUCA1 GAA GLB1 GUSB HEXA IDUA
2 metabolic process GO:0008152 9.8 ARSA ARSB FUCA1 GAA GBA GLB1
3 lysosome organization GO:0007040 9.77 ARSB CLN3 GAA NAGLU TPP1
4 central nervous system development GO:0007417 9.74 ARSA ARSB TPP1
5 chondroitin sulfate catabolic process GO:0030207 9.71 ARSB HEXA IDS IDUA
6 glycosphingolipid metabolic process GO:0006687 9.7 ARSA ARSB CTSA GBA GLB1 HEXA
7 response to estrogen GO:0043627 9.67 ARSA ARSB GBA
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 protein deglycosylation GO:0006517 9.52 AGA MAN2B1
14 oligosaccharide catabolic process GO:0009313 9.51 MAN2B1 NEU1
15 response to methylmercury GO:0051597 9.48 ARSA ARSB
16 glycosaminoglycan catabolic process GO:0006027 9.23 FUCA1 GLB1 GUSB HGSNAT IDS IDUA
17 neutrophil degranulation GO:0043312 10 AGA ARSA ARSB CTSA FUCA1 GAA

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 9.56 GAA GLB1 GUSB IDUA
3 exo-alpha-sialidase activity GO:0004308 9.5 CTSA GLB1 NEU1
4 sulfuric ester hydrolase activity GO:0008484 9.46 ARSA ARSB IDS SGSH
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
45 MESH via Orphanet
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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