MCID: LYS002
MIFTS: 52

Lysosomal Storage Disease malady

Categories: Metabolic diseases

Aliases & Classifications for Lysosomal Storage Disease

Aliases & Descriptions for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 38 12 14
Lysosomal Storage Diseases 52 42 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 42 D016464
NCIt 47 C61250
SNOMED-CT 64 23585005
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 mannosidosis. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. The drugs Cysteamine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 71 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited... 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 108)
id Related Disease Score Top Affiliating Genes
1 fucosidosis 33.0 AGA FUCA1 GAA HEXA
2 mannosidosis 27.7 AGA ARSA ARSB CLN3 FUCA1 GAA
3 galactosialidosis 11.4
4 aspartylglucosaminuria 11.3
5 cystinosis 11.3
6 mucopolysaccharidosis vii 11.3
7 mucopolysaccharidosis 11.2
8 mannosidosis, beta 11.1
9 mannosidosis, alpha-, types i and ii 11.1
10 mucopolysaccharidosis type iiid 11.0
11 glycoproteinosis 11.0
12 mucopolysaccharidosis iva 11.0
13 gm1-gangliosidosis, type i 11.0
14 mucopolysaccharidosis type iiic 11.0
15 mucopolysaccharidisis type iiia 11.0
16 ceroid lipofuscinosis, neuronal, 7 10.8
17 ceroid lipofuscinosis, neuronal, 5 10.8
18 ceroid lipofuscinosis, neuronal, 4, parry type 10.8
19 metachromatic leukodystrophy 10.8
20 mucopolysaccharidosis type vi 10.8
21 fabry disease 10.8
22 sandhoff disease, infantile, juvenile, and adult forms 10.8
23 ceroid lipofuscinosis, neuronal, 6 10.8
24 mucopolysaccharidosis ii 10.8
25 ceroid lipofuscinosis, neuronal, 1 10.8
26 gm2-gangliosidosis, ab variant 10.8
27 ceroid lipofuscinosis, neuronal, kufs type, adult onset 10.8
28 ceroid lipofuscinosis, neuronal, 13, kufs type 10.8
29 pycnodysostosis 10.8
30 sialidosis, type i 10.8
31 tay-sachs disease 10.8
32 cystinosis, ocular nonnephropathic 10.8
33 gaucher disease, type i 10.8
34 ceroid lipofuscinosis, neuronal, 3 10.8
35 lipid storage disease 10.8
36 cystinosis, nephropathic 10.8
37 gm1-gangliosidosis, type ii 10.8
38 ceroid lipofuscinosis, neuronal, 8 10.8
39 cystinosis, late-onset juvenile or adolescent nephropathic 10.8
40 mucopolysaccharidosis iii 10.8
41 mucopolysaccharidosis type ivb 10.8
42 farber lipogranulomatosis 10.8
43 mucopolysaccharidosis type iiib 10.8
44 mucopolysaccharidosis type ix 10.8
45 ceroid lipofuscinosis, neuronal, 11 10.8
46 infantile free sialic acid storage disease 10.8
47 mucopolysaccharidosis ih 10.8
48 sialuria 10.8
49 glycogen storage disease ii 10.8
50 mucopolysaccharidosis is 10.8

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:

44 (show all 18)
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.55 AGA ARSA ARSB CLN3 GAA GALC
2 growth/size/body region MP:0005378 10.44 SGSH SMPD1 AGA ARSB GAA GALC
3 cellular MP:0005384 10.43 AGA ARSB CLN3 GAA GALC GBA
4 homeostasis/metabolism MP:0005376 10.42 SGSH SMPD1 TPP1 AGA ARSA ARSB
5 hematopoietic system MP:0005397 10.32 GALC GBA GUSB IDUA MCOLN1 NAGLU
6 immune system MP:0005387 10.29 ARSA CLN3 GALC GBA GLA IDS
7 cardiovascular system MP:0005385 10.27 ARSB GAA GALC GBA GLA IDUA
8 mortality/aging MP:0010768 10.27 AGA CLN3 GALC GBA GLA GUSB
9 craniofacial MP:0005382 10.2 ARSB GALC GUSB HEXA IDS IDUA
10 nervous system MP:0003631 10.19 TPP1 AGA ARSA ARSB CLN3 GALC
11 liver/biliary system MP:0005370 10.18 NAGLU NEU1 PPT1 SGSH SMPD1 AGA
12 integument MP:0010771 10.16 MCOLN1 NAGLU NEU1 SGSH TPP1 AGA
13 hearing/vestibular/ear MP:0005377 10 IDUA NAGLU ARSA ARSB GUSB HEXA
14 muscle MP:0005369 9.97 ARSB GAA GALC GLA IDUA MCOLN1
15 renal/urinary system MP:0005367 9.97 AGA ARSB CLN3 GALC GLA GUSB
16 limbs/digits/tail MP:0005371 9.91 ARSB GALC GUSB HEXA IDS IDUA
17 skeleton MP:0005390 9.73 SGSH ARSB GAA GALC GBA GUSB
18 vision/eye MP:0005391 9.4 ARSB CLN3 GALC GLA HEXA IDS

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show top 50) (show all 213)
id 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
Coal tar Approved Phase 4 8007-45-2
8
Bortezomib Approved, Investigational Phase 4 179324-69-7 387447 93860
9
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 1,Phase 2 59-30-3 6037
10
leucovorin Approved, Nutraceutical Phase 4,Phase 1,Phase 2 58-05-9 54575, 6560146 143
11
Alfacalcidol Approved, Nutraceutical Phase 4 41294-56-8 5282181
12
1-Deoxynojirimycin Experimental Phase 4,Phase 3,Phase 2,Phase 1 19130-96-2 1374
13 Immunosuppressive Agents Phase 4,Phase 2,Phase 3,Phase 1
14 Pharmaceutical Solutions Phase 4,Phase 2,Phase 3,Phase 1
15 Antidotes Phase 4,Phase 1,Phase 2
16 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
17 Antioxidants Phase 4,Phase 1,Phase 2
18 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
19 Expectorants Phase 4,Phase 1,Phase 2
20 N-monoacetylcystine Phase 4,Phase 1,Phase 2
21 Protective Agents Phase 4,Phase 1,Phase 2
22 Respiratory System Agents Phase 4,Phase 1,Phase 2
23 Antimetabolites Phase 4,Phase 2,Phase 1
24 Antimetabolites, Antineoplastic Phase 4,Phase 2,Phase 1
25 Antirheumatic Agents Phase 4,Phase 2,Phase 3,Phase 1
26 Dermatologic Agents Phase 4,Phase 2,Phase 1,Early Phase 1
27 Folic Acid Antagonists Phase 4,Phase 1,Phase 2
28 Nucleic Acid Synthesis Inhibitors Phase 4,Phase 2
29 Vitamin B Complex Phase 4,Phase 1,Phase 2
30 Adrenergic Agents Phase 4,Phase 2,Phase 1
31 Adrenergic Agonists Phase 4,Phase 1,Phase 2
32 Adrenergic beta-2 Receptor Agonists Phase 4,Phase 1,Phase 2
33 Adrenergic beta-Agonists Phase 4,Phase 1,Phase 2
34 Albuterol Phase 4,Phase 1,Phase 2
35 Anti-Asthmatic Agents Phase 4,Phase 1,Phase 2
36 Autonomic Agents Phase 4,Phase 2,Phase 1
37 Bronchodilator Agents Phase 4,Phase 1,Phase 2
38 Neurotransmitter Agents Phase 4,Phase 2,Phase 1,Early Phase 1
39 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 1,Early Phase 1
40 Tocolytic Agents Phase 4,Phase 1,Phase 2
41 Antibodies Phase 4,Phase 1,Phase 2,Early Phase 1
42 Immunoglobulins Phase 4,Phase 1,Phase 2,Early Phase 1
43 Alkylating Agents Phase 4,Phase 2,Phase 3
44 Antineoplastic Agents, Alkylating Phase 4,Phase 2,Phase 3
45 Bone Density Conservation Agents Phase 4,Phase 2
46 Micronutrients Phase 4,Phase 2
47 Trace Elements Phase 4,Phase 2
48 vitamin d Phase 4,Phase 2
49 Vitamins Phase 4,Phase 2
50 Anti-HIV Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 543)
id Name Status NCT ID Phase
1 Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease Unknown status NCT00487630 Phase 4
2 CPAP for Infantile Pompe Disease Unknown status NCT02405624 Phase 4
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
5 Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa Completed NCT01288027 Phase 4
6 N Acetyl Cysteine for Cystinosis Patients Completed NCT01614431 Phase 4
7 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
8 High Dose or High Dose Frequency Study of Alglucosidase Alfa Completed NCT00483379 Phase 4
9 Late-Onset Treatment Study Extension Protocol Completed NCT00455195 Phase 4
10 Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients. Completed NCT01997489 Phase 4
11 Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease Completed NCT02405598 Phase 4
12 Replagal Enzyme Replacement Therapy for Adults With Fabry Disease Completed NCT00097890 Phase 4
13 A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease Completed NCT00140621 Phase 4
14 A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease Completed NCT01132690 Phase 4
15 A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease Completed NCT00081497 Phase 4
16 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
17 A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease. Completed NCT00365131 Phase 4
18 A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease. Completed NCT00233870 Phase 4
19 A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta Completed NCT01650779 Phase 4
20 A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease Completed NCT00144781 Phase 4
21 A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI Completed NCT00299000 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
23 A Study of the Effects of Fabrazyme (Agalsidase Beta) on Mother's Lactation and on the Growth, Development and Immunologic Response of Their Infants Recruiting NCT00230607 Phase 4
24 Use of Cysteamine in the Treatment of Cystinosis Recruiting NCT00359684 Phase 4
25 Pompe Lactation Sub-Registry Recruiting NCT00566878 Phase 4
26 Pompe Pregnancy Sub-Registry Recruiting NCT00567073 Phase 4
27 Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease Recruiting NCT01410890 Phase 4
28 Immune Tolerance Induction Study Recruiting NCT00701701 Phase 4
29 Canadian Fabry Disease Initiative (CFDI) Enzyme Replacement Therapy (ERT) Study Recruiting NCT00455104 Phase 4
30 Immune Modulation Therapy for Pompe Disease Recruiting NCT02525172 Phase 4
31 The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease Recruiting NCT02528617 Phase 4
32 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
33 Synergistic Enteral Regimen for Treatment of the Gangliosidoses Recruiting NCT02030015 Phase 4
34 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
35 Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age Recruiting NCT02455622 Phase 4
36 Growth and Development Study of Alglucosidase Alfa. Active, not recruiting NCT00486889 Phase 4
37 Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease Not yet recruiting NCT03021941 Phase 4
38 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
39 A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease Terminated NCT01526785 Phase 4
40 Morquio's Syndrome: a Case Study Terminated NCT00609440 Phase 4
41 A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency. Withdrawn NCT00312767 Phase 4
42 Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis Unknown status NCT01238328 Phase 2, Phase 3
43 BMN 110 Phase 3B in Australian Patients Unknown status NCT01966029 Phase 3
44 Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase Completed NCT00630747 Phase 2, Phase 3
45 A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease Completed NCT00376168 Phase 3
46 Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial Completed NCT00705939 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 Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease Completed NCT00553631 Phase 3
49 A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease Completed NCT00430625 Phase 3
50 Open-Label Phase 3 Long-Term Safety Study of Migalastat Completed NCT01458119 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.
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:

39
Brain, Bone, Bone Marrow, Liver, Small Intestine, Pituitary, Fetal Liver

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 192)
id Title Authors Year
1
The lysosomal storage disease continuum with ageing-related neurodegenerative disease. ( 27516378 )
2016
2
Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )
2016
3
Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. ( 27658524 )
2016
4
A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. ( 27867988 )
2016
5
Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )
2016
6
Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. ( 25410058 )
2015
7
Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice. ( 25998250 )
2015
8
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. ( 25728544 )
2015
9
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. ( 26085577 )
2015
10
Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. ( 25741867 )
2015
11
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. ( 25586965 )
2015
12
MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )
2015
13
Lysosomal storage disease as an etiology of nonimmune hydrops. ( 25305402 )
2015
14
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. ( 24432014 )
2014
15
Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )
2014
16
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
17
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. ( 24787480 )
2014
18
LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. ( 24068328 )
2014
19
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120156 )
2013
20
Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. ( 24284886 )
2013
21
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. ( 24255892 )
2013
22
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. ( 24038957 )
2013
23
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. ( 23850077 )
2013
24
Nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120157 )
2013
25
Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood. ( 24278249 )
2013
26
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. ( 22156940 )
2012
27
Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. ( 22990858 )
2012
28
Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. ( 22403656 )
2012
29
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. ( 22991292 )
2012
30
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )
2012
31
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
32
Gene therapy approaches for lysosomal storage disease: next-generation treatment. ( 22794786 )
2012
33
Invertebrate models of lysosomal storage disease: what have we learned so far? ( 22038288 )
2011
34
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. ( 21382365 )
2011
35
Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? ( 21421999 )
2011
36
Niemann-Pick C disease: not your average lysosomal storage disease. ( 21205672 )
2011
37
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. ( 22216298 )
2011
38
Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. ( 21859904 )
2011
39
Severe lysosomal storage disease of liver in del(1)(p36): a new presentation. ( 21145995 )
2011
40
Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. ( 21416197 )
2011
41
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. ( 20020536 )
2010
42
Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response. ( 20637096 )
2010
43
Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. ( 20130326 )
2010
44
New strategies for enzyme replacement therapy for lysosomal storage diseases. ( 20345279 )
2010
45
Glial fibrillary acidic protein is elevated in the lysosomal storage disease classical late-infantile neuronal ceroid lipofuscinosis, but is not a component of the storage material. ( 20370715 )
2010
46
Lysosomal storage disease: revealing lysosomal function and physiology. ( 20430954 )
2010
47
Lysosomal storage disease in two presumed-related springboks (Antidorcas marsupialis). ( 20722261 )
2010
48
Mass spectrometry-based protein profiling to determine the cause of lysosomal storage diseases of unknown etiology. ( 19383612 )
2009
49
Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. ( 19324223 )
2009
50
Exclusion of NEU1 and PPGB from candidate genes for a lysosomal storage disease in Japanese Black cattle. ( 20163628 )
2009

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 GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
13.91 ARSA ARSB GAA GALC GBA GLA
2
Show member pathways
12.72 ARSB GAA GUSB HEXA IDS IDUA
3
Show member pathways
12.37 ARSB GUSB HEXA IDS IDUA NAGLU
4
Show member pathways
12.26 ARSA ARSB GALC GBA GLA HEXA
5 12.05 AGA ARSA ARSB CLN3 FUCA1 GAA
6 10.81 AGA FUCA1 GBA HEXA NEU1
7
Show member pathways
10.47 ARSB GUSB HEXA IDS IDUA NAGLU

GO Terms for Lysosomal Storage Disease

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

id Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.96 AGA ARSA ARSB CLN3 FUCA1 GAA
2 azurophil granule lumen GO:0035578 9.73 AGA ARSA ARSB FUCA1 GLA GUSB
3 lysosomal membrane GO:0005765 9.72 CLN3 GAA GBA MCOLN1 NEU1
4 lysosomal lumen GO:0043202 9.55 ARSA ARSB FUCA1 GAA GALC GBA
5 extracellular exosome GO:0070062 10.09 AGA ARSA ARSB FUCA1 GAA GALC
6 extracellular region GO:0005576 10.02 AGA ARSA ARSB FUCA1 GLA GUSB

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

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 9.91 FUCA1 GAA GALC GBA GLA GUSB
2 metabolic process GO:0008152 9.83 ARSA ARSB FUCA1 GAA GALC GBA
3 lysosome organization GO:0007040 9.8 ARSB CLN3 GAA NAGLU PPT1 TPP1
4 central nervous system development GO:0007417 9.77 ARSA ARSB TPP1
5 lipid catabolic process GO:0016042 9.75 GALC NEU1 PPT1
6 response to estrogen GO:0043627 9.73 ARSA ARSB GBA
7 neuromuscular process controlling balance GO:0050885 9.69 CLN3 GAA TPP1
8 chondroitin sulfate catabolic process GO:0030207 9.67 ARSB HEXA IDS IDUA
9 protein catabolic process GO:0030163 9.65 CLN3 PPT1 TPP1
10 glycosaminoglycan catabolic process GO:0006027 9.63 FUCA1 GUSB IDS IDUA NAGLU SGSH
11 response to pH GO:0009268 9.61 ARSA ARSB GBA
12 ceramide biosynthetic process GO:0046513 9.6 GBA SMPD1
13 positive regulation of protein dephosphorylation GO:0035307 9.58 GBA SMPD1
14 hyaluronan catabolic process GO:0030214 9.57 GUSB HEXA
15 response to methylmercury GO:0051597 9.55 ARSA ARSB
16 glycoside catabolic process GO:0016139 9.54 FUCA1 GLA
17 lysosomal lumen acidification GO:0007042 9.52 CLN3 PPT1
18 sphingomyelin metabolic process GO:0006684 9.49 CLN3 SMPD1
19 termination of signal transduction GO:0023021 9.46 GBA SMPD1
20 glycosphingolipid metabolic process GO:0006687 9.23 ARSA ARSB GALC GBA GLA HEXA
21 neutrophil degranulation GO:0043312 10.01 AGA ARSA ARSB FUCA1 GAA GLA

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.91 AGA ARSA ARSB FUCA1 GAA GALC
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 GLA IDUA
4 hydrolase activity, acting on glycosyl bonds GO:0016798 9.36 FUCA1 GAA GALC GBA GLA GUSB
5 arylsulfatase activity GO:0004065 9.32 ARSA ARSB

Sources for Lysosomal Storage Disease

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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