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 37 12 72 14
Lysosomal Storage Diseases 36 51 41 69
Lysosomal Storage Metabolism Disorder 12
Inborn Lysosomal Enzyme Disorder 12
Disorder of Lysosomal Enzyme 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3211
MeSH 41 D016464
NCIt 46 C61250
SNOMED-CT 64 23585005
KEGG 36 H01425
UMLS 69 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 galactosialidosis. 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 : 72 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 103)
# Related Disease Score Top Affiliating Genes
1 fucosidosis 32.9 AGA CTSA FUCA1 GAA HEXA
2 galactosialidosis 32.7 CTSA NEU1
3 mucopolysaccharidosis, type vii 32.6 GUSB HEXA IDUA MANBA
4 aspartylglucosaminuria 32.5 AGA CTSA GAA
5 mucopolysaccharidosis, type iiia 32.4 NAGLU SGSH
6 glycoproteinosis 32.2 CTSA NEU1
7 mannosidosis, beta a, lysosomal 32.1 CTSA GAA HEXA MAN2B1 MANBA
8 mucolipidosis ii alpha/beta 32.1 FUCA1 GUSB NEU1
9 mannosidosis, alpha b, lysosomal 32.0 CTSA GAA HEXA MAN2B1 MANBA
10 mucopolysaccharidosis-plus syndrome 32.0 ARSB GUSB HEXA IDS IDUA NAGLU
11 mucolipidosis iii alpha/beta 31.9 FUCA1 GUSB
12 inclusion-cell disease 31.8 ARSA CTSA
13 tay-sachs disease 31.7 ARSA CTSA HEXA NEU1
14 metachromatic leukodystrophy 31.6 ARSA ARSB HEXA
15 mucopolysaccharidosis, type ii 31.6 ARSA GAA IDS
16 mucopolysaccharidosis type vi 31.5 ARSA ARSB
17 lipid storage disease 31.4 ARSA CLN3 GBA HEXA TPP1
18 scheie syndrome 31.2 CTSA GAA HEXA IDUA NAGLU
19 mannosidosis 30.9 MAN2B1 MANBA SGSH
20 immune hydrops fetalis 30.5 GBA GUSB
21 neuraminidase deficiency 11.4
22 cystinosis 11.4
23 gm1-gangliosidosis, type i 11.4
24 ceroid lipofuscinosis, neuronal, 3 11.3
25 ceroid lipofuscinosis, neuronal, 1 11.3
26 ceroid lipofuscinosis, neuronal, 5 11.3
27 mucopolysaccharidosis, type iiic 11.2
28 mucopolysaccharidosis, type iiid 11.2
29 mucopolysaccharidosis, type iiib 11.1
30 mucopolysaccharidosis, type iva 11.1
31 ceroid lipofuscinosis, neuronal, 4b, autosomal dominant 10.9
32 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 10.9
33 ceroid lipofuscinosis, neuronal, 2 10.9
34 cystinosis, adult nonnephropathic 10.9
35 cystinosis, nephropathic 10.9
36 cystinosis, late-onset juvenile or adolescent nephropathic type 10.9
37 farber lipogranulomatosis 10.9
38 gm1-gangliosidosis, type ii 10.9
39 gaucher disease, type i 10.9
40 glycogen storage disease ii 10.9
41 glycoprotein storage disease 10.9
42 mucopolysaccharidosis, type ivb 10.9
43 niemann-pick disease, type c1 10.9
44 pycnodysostosis 10.9
45 sandhoff disease 10.9
46 infantile sialic acid storage disease 10.9
47 sialuria 10.9
48 gm2-gangliosidosis, ab variant 10.9
49 ceroid lipofuscinosis, neuronal, 8 10.9
50 mucopolysaccharidosis, type ix 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:

43 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.54 IDUA MANBA NAGLU MAN2B1 NEU1 TPP1
2 cellular MP:0005384 10.48 IDUA MANBA NAGLU MAN2B1 NEU1 TPP1
3 homeostasis/metabolism MP:0005376 10.38 MAN2B1 IDUA ARSB CTSA TPP1 NEU1
4 growth/size/body region MP:0005378 10.34 IDS MAN2B1 IDUA NAGLU SGSH ARSB
5 hematopoietic system MP:0005397 10.31 MAN2B1 IDUA MANBA NAGLU ARSB CTSA
6 cardiovascular system MP:0005385 10.3 MAN2B1 MANBA IDUA NAGLU SGSH ARSB
7 immune system MP:0005387 10.23 IDS MAN2B1 MANBA IDUA NAGLU SGSH
8 liver/biliary system MP:0005370 10.18 IDUA MANBA NAGLU MAN2B1 CTSA NEU1
9 mortality/aging MP:0010768 10.18 IDS IDUA NAGLU SGSH TPP1 AGA
10 craniofacial MP:0005382 10.14 IDS IDUA NAGLU SGSH ARSB CTSA
11 integument MP:0010771 10.13 IDS IDUA NAGLU SGSH CTSA TPP1
12 nervous system MP:0003631 10.13 IDUA MANBA NAGLU MAN2B1 TPP1 NEU1
13 hearing/vestibular/ear MP:0005377 10.05 MAN2B1 IDUA NAGLU ARSB ARSA GUSB
14 renal/urinary system MP:0005367 10 IDUA MANBA NAGLU MAN2B1 NEU1 CLN3
15 muscle MP:0005369 9.87 MAN2B1 IDUA ARSB TPP1 NEU1 CTNS
16 skeleton MP:0005390 9.73 MAN2B1 IDUA NAGLU ARSB NEU1 CTNS
17 vision/eye MP:0005391 9.32 IDS MAN2B1 IDUA NAGLU ARSB NEU1

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show top 50) (show all 215)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 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 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 19130-96-2 1374
12 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
13 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
14 Antidotes Phase 4,Phase 1,Phase 2
15 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
16 Antioxidants Phase 4,Phase 1,Phase 2
17 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
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
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
29 Bronchodilator Agents Phase 4,Phase 1,Phase 2
30 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Early Phase 1
31 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Early Phase 1
32 Tocolytic Agents Phase 4,Phase 1,Phase 2
33 Antimetabolites Phase 4,Phase 2,Phase 1
34 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1
35 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
36 Dermatologic Agents Phase 4,Phase 2,Phase 1,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
43 Micronutrients Phase 4,Phase 2
44 Trace Elements Phase 4,Phase 2
45 Vitamins Phase 4,Phase 2
46 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1
47 Anti-Retroviral Agents Phase 4,Phase 3,Phase 2,Phase 1
48 Cardiac Glycosides Phase 4,Phase 3,Phase 2,Phase 1
49 Glycoside Hydrolase Inhibitors Phase 4,Phase 3,Phase 2,Phase 1
50 Hypoglycemic Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 573)

# 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 Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4 Agalsidase beta (recombinant form)
16 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4 Agalsidase beta
17 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4 Replagal (Agalsidase Alfa);Replagal
18 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
19 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
20 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 Phase 4 Naglazyme
21 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
22 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
23 Study of the Effects of Fabrazyme Treatment on Lactation and Infants Recruiting NCT00230607 Phase 4 agalsidase beta
24 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4 Cysteamine
25 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4 Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
26 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
27 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4 miglustat
28 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
29 Immune Tolerance Induction Study Recruiting NCT00701701 Phase 4
30 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4 Elaprase for intravenous (IV) infusion
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 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
33 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
34 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
35 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
36 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
37 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Withdrawn NCT02528617 Phase 4 Velaglucerase alfa
38 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)
39 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3 Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
40 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3 BMN 110
41 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
42 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)
43 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 Phase 3 Taliglucerase alfa
44 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
45 Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Completed NCT00478647 Phase 2, Phase 3
46 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
47 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 Phase 3 migalastat HCl 150mg
48 Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase Completed NCT00712348 Phase 3 Taliglucerase alfa
49 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
50 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

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:

38
Bone, Liver, Brain, Bone Marrow, Eye, Testes, Kidney

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 200)
# Title Authors Year
1
Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. ( 29323117 )
2018
2
Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )
2018
3
Swainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina. ( 28093222 )
2017
4
Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. ( 28266544 )
2017
5
Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )
2017
6
An improved purification method for the lysosomal storage disease protein I^-glucuronidase produced in CHO cells. ( 28734840 )
2017
7
Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease. ( 29180785 )
2017
8
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. ( 27238910 )
2016
9
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. ( 27867988 )
2016
10
The lysosomal storage disease continuum with ageing-related neurodegenerative disease. ( 27516378 )
2016
11
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
12
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )
2016
13
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. ( 27658524 )
2016
14
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice. ( 25998250 )
2015
15
Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. ( 25410058 )
2015
16
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. ( 26085577 )
2015
17
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. ( 25728544 )
2015
18
Lysosomal storage disease as an etiology of nonimmune hydrops. ( 25305402 )
2015
19
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )
2015
20
Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. ( 25741867 )
2015
21
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. ( 25586965 )
2015
22
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. ( 24432014 )
2014
23
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. ( 24068328 )
2014
24
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )
2014
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
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. ( 24787480 )
2014
27
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120156 )
2013
28
Nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120157 )
2013
29
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. ( 24255892 )
2013
30
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. ( 24038957 )
2013
31
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. ( 23850077 )
2013
32
Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood. ( 24278249 )
2013
33
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. ( 24284886 )
2013
34
Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. ( 22403656 )
2012
35
Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. ( 22990858 )
2012
36
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. ( 22156940 )
2012
37
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. ( 22991292 )
2012
38
Gene therapy approaches for lysosomal storage disease: next-generation treatment. ( 22794786 )
2012
39
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
40
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
41
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. ( 21416197 )
2011
42
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. ( 21382365 )
2011
43
Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? ( 21421999 )
2011
44
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. ( 22216298 )
2011
45
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. ( 21859904 )
2011
46
Invertebrate models of lysosomal storage disease: what have we learned so far? ( 22038288 )
2011
47
Niemann-Pick C disease: not your average lysosomal storage disease. ( 21205672 )
2011
48
Severe lysosomal storage disease of liver in del(1)(p36): a new presentation. ( 21145995 )
2011
49
Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. ( 20130326 )
2010
50
Lysosomal storage disease: revealing lysosomal function and physiology. ( 20430954 )
2010

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:

36
# 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
13.87 ARSA ARSB CTSA GAA GBA GUSB
2
Show member pathways
13.79 AGA ARSA ARSB CTSA FUCA1 GAA
3
Show member pathways
12.71 ARSB GAA GUSB HEXA IDS IDUA
4
Show member pathways
12.37 ARSB GUSB HEXA IDS IDUA NAGLU
5
Show member pathways
12.28 ARSA ARSB CTSA GBA HEXA NEU1
6 12.25 AGA ARSA ARSB CLN3 CTNS CTSA
7
Show member pathways
10.86 ARSB GUSB HEXA HGSNAT IDS IDUA
8 10.42 AGA FUCA1 GBA HEXA MAN2B1 MANBA
9 10.13 MAN2B1 MANBA

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 9.7 AGA ARSA ARSB CTSA FUCA1 GUSB
4 lysosomal lumen GO:0043202 9.53 ARSA ARSB CTSA FUCA1 GAA GBA
5 extracellular exosome GO:0070062 10.16 AGA ARSA ARSB CTNS CTSA FUCA1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.92 FUCA1 GAA GUSB HEXA IDUA MAN2B1
2 neutrophil degranulation GO:0043312 9.9 AGA ARSA ARSB CTSA FUCA1 GAA
3 lysosome organization GO:0007040 9.77 ARSB CLN3 GAA NAGLU TPP1
4 central nervous system development GO:0007417 9.73 ARSA ARSB TPP1
5 glycosphingolipid metabolic process GO:0006687 9.73 ARSA ARSB CTSA GBA HEXA NEU1
6 chondroitin sulfate catabolic process GO:0030207 9.71 ARSB HEXA IDS IDUA
7 response to estrogen GO:0043627 9.69 ARSA ARSB GBA
8 neuromuscular process controlling balance GO:0050885 9.65 CLN3 GAA TPP1
9 response to pH GO:0009268 9.63 ARSA ARSB GBA
10 oligosaccharide catabolic process GO:0009313 9.61 MAN2B1 MANBA NEU1
11 hyaluronan catabolic process GO:0030214 9.55 GUSB HEXA
12 lysosomal transport GO:0007041 9.54 ARSB HGSNAT
13 protein deglycosylation GO:0006517 9.52 AGA MAN2B1
14 glycosaminoglycan catabolic process GO:0006027 9.5 FUCA1 GUSB HGSNAT IDS IDUA NAGLU
15 response to methylmercury GO:0051597 9.49 ARSA ARSB
16 metabolic process GO:0008152 9.47 ARSA ARSB FUCA1 GAA GBA GUSB

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 sulfuric ester hydrolase activity GO:0008484 9.46 ARSA ARSB IDS SGSH
3 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 GAA GUSB IDUA
4 arylsulfatase activity GO:0004065 9.37 ARSA ARSB
5 exo-alpha-sialidase activity GO:0004308 9.32 CTSA NEU1
6 hydrolase activity, acting on glycosyl bonds GO:0016798 9.32 FUCA1 GAA GBA GUSB HEXA IDUA

Sources for Lysosomal Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....