Lysosomal Storage Disease

Categories: Metabolic diseases

Aliases & Classifications for Lysosomal Storage Disease

MalaCards integrated aliases for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 12 74 36 15 37
Lysosomal Storage Diseases 54 44 71
Lysosomal Storage Metabolism Disorder 12
Inborn Lysosomal Enzyme Disorder 12
Disorder of Lysosomal Enzyme 12
Lysosomal Storage Disorder 15


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Disease Ontology 12 DOID:3211
KEGG 36 H01425
MeSH 44 D016464
NCIt 50 C61250
SNOMED-CT 67 23585005
UMLS 71 C0085078

Summaries for Lysosomal Storage Disease

KEGG : 36 Lysosomal storage diseases (LSDs) are a group of inherited diseases that are characterised by the intracellular accumulation of incompletely degraded macromolecules. They result from a genetic defect in cellular transport or metabolism of molecules within the lysosome. Most of the patients with a LSD are born apparently healthy and the symptoms develop progressively. Treatment is directed toward symptomatic care of secondary complications for most of these diseases. For some individuals, hematopoietic stem cell transplantation or enzyme-replacement therapy can be effective. LSDs are divided into the following 5 groups. For details, please refer to the each entry. 1. Defects in glycan degradation: Fabry disease, Mucopolysaccharidosis, Glycoproteinoses, Defects in the degradation of sulfatide, Defects in the degradation of ganglioside, Pompe disease, Prosaposin deficiency 2. Defects in lipid degradation: Defects in the degradation of sphingomyelin, Wolman disease 3. Defects in protein degradation: Neuronal ceroid lipofuscinosis, Lysosomal cysteine protease deficiencies, Acid phosphatase deficiency 4. Defects in lysosomal transporters: Cystinosis, Sialuria, Danon disease 5. Defects in lysosomal trafficking: Niemann-Pick disease type C, Mucolipidosis II, III, and IV, Neuronal ceroid lipofuscinosis, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome

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 Miglustat and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, skin and spinal cord, and related phenotypes are behavior/neurological and cellular

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

Wikipedia : 74 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 242)
# Related Disease Score Top Affiliating Genes
1 fucosidosis 33.1 NAGLU MAN2B1 IDUA GLB1 FUCA1 ARSB
2 galactosialidosis 32.8 NEU1 IDUA GLB1 CTSA
3 mannosidosis, alpha b, lysosomal 32.8 SGSH MAN2B1 IDUA GUSB FUCA1
4 mucopolysaccharidosis, type vii 32.7 TPP1 SGSH NAGLU IDUA IDS HGSNAT
5 aspartylglucosaminuria 32.7 CTSA CLN3 AGA
6 mucopolysaccharidosis, type vi 32.6 NAGLU IDUA IDS HGSNAT GUSB GLB1
7 mucopolysaccharidosis, type iiid 32.6 SGSH NAGLU IDUA IDS HGSNAT
8 hurler-scheie syndrome 32.6 SGSH NAGLU IDUA ARSB
9 mucopolysaccharidosis, type iiic 32.5 SGSH NAGLU IDUA IDS HGSNAT ARSB
10 hurler syndrome 32.5 NEU1 NAGLU IDUA IDS GLB1 FUCA1
11 mucopolysaccharidosis, type iiib 32.5 TPP1 SGSH NAGLU IDUA IDS HGSNAT
12 mannosidosis, beta a, lysosomal 32.5 MAN2B1 HGSNAT
13 metachromatic leukodystrophy 32.5 TPP1 SGSH IDUA IDS HEXA ARSB
14 gm1-gangliosidosis, type iii 32.5 HEXB GLB1
15 mucopolysaccharidosis, type iiia 32.5 TPP1 SGSH NAGLU IDUA IDS HGSNAT
16 mucopolysaccharidosis, type iva 32.4 SGSH NAGLU IDUA IDS GUSB GLB1
17 mucopolysaccharidosis, type ii 32.4 SGSH NAGLU IDUA IDS HGSNAT GUSB
18 fabry disease 32.4 GUSB GBA FUCA1 ARSA AGA
19 glycoproteinosis 32.4 NEU1 GLB1 CTSA CLN3 ARSB
20 tay-sachs disease 32.3 TPP1 SGSH NEU1 IDUA IDS HEXB
21 gm1-gangliosidosis, type ii 32.3 IDS HEXB GLB1 CTSA
22 mucolipidosis iii alpha/beta 32.3 NAGLU GUSB FUCA1 ARSB
23 ceroid lipofuscinosis, neuronal, 1 32.3 TPP1 SGSH CLN3
24 ceroid lipofuscinosis, neuronal, 3 32.3 TPP1 SGSH NAGLU CTNS CLN3 ARSA
25 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.3 TPP1 IDUA CLN3
26 sandhoff disease 32.3 MAN2B1 HEXB HEXA GLB1 ARSA
27 ceroid lipofuscinosis, neuronal, 10 32.3 TPP1 SGSH CLN3
28 gm2-gangliosidosis, ab variant 32.3 HEXB HEXA GLB1 GBA
29 krabbe disease 32.3 SGSH IDUA IDS GLB1 GBA ARSB
30 mucolipidosis ii alpha/beta 32.3 IDUA GUSB FUCA1
31 lipid storage disease 32.3 TPP1 GLB1 GBA CLN3 ARSA
32 mucopolysaccharidosis, type ivb 32.3 SGSH NAGLU IDUA IDS HGSNAT GLB1
33 ceroid lipofuscinosis, neuronal, 13 32.1 TPP1 CLN3
34 mucopolysaccharidosis iii 32.1 TPP1 SGSH NAGLU IDUA IDS HGSNAT
35 scheie syndrome 32.1 SGSH NAGLU IDUA IDS HGSNAT GUSB
36 mucopolysaccharidosis-plus syndrome 32.0 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
37 gangliosidosis 31.5 NEU1 HEXB HEXA GLB1 CTSA
38 gaucher's disease 31.3 IDUA HEXA GUSB GBA ARSA
39 mucopolysaccharidoses 31.3 SGSH NAGLU IDUA HGSNAT GUSB ARSB
40 gm1 gangliosidosis 31.2 SGSH NEU1 IDUA HEXA GLB1 CTSA
41 mucolipidosis 31.1 NEU1 MAN2B1 HEXA CTSA CLN3 ARSA
42 gm2 gangliosidosis 31.0 NEU1 HEXB HEXA GLB1 GBA CLN3
43 immune hydrops fetalis 31.0 GUSB GBA
44 inherited metabolic disorder 30.9 IDUA GBA CLN3
45 lysosomal disease 30.9 NEU1 GBA AGA
46 sphingolipidosis 30.7 IDUA HEXB HEXA GLB1 GBA CTSA
47 morquio syndrome 30.6 NEU1 GUSB GLB1 CTSA
48 angiokeratoma 30.6 NEU1 FUCA1 CTSA AGA
49 ceroid lipofuscinosis, neuronal, 7 30.6 TPP1 SGSH CLN3
50 hydrops fetalis, nonimmune 30.6 NEU1 GUSB CTSA

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 20)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.59 AGA ARSA ARSB CLN3 CTNS CTSA
2 cellular MP:0005384 10.53 AGA ARSB CLN3 CTNS CTSA FUCA1
3 homeostasis/metabolism MP:0005376 10.5 AGA ARSA ARSB CLN3 CTNS CTSA
4 growth/size/body region MP:0005378 10.43 AGA ARSB CLN3 CTSA GBA GLB1
5 hematopoietic system MP:0005397 10.41 ARSA ARSB CLN3 CTSA GBA GLB1
6 immune system MP:0005387 10.32 ARSA CLN3 CTSA GBA GLB1 HEXB
7 mortality/aging MP:0010768 10.31 AGA CLN3 CTSA GBA GLB1 GUSB
8 liver/biliary system MP:0005370 10.3 AGA CLN3 CTSA GBA GLB1 HEXA
9 nervous system MP:0003631 10.3 AGA ARSA ARSB CLN3 FUCA1 GBA
10 cardiovascular system MP:0005385 10.28 ARSB CTSA FUCA1 GBA HGSNAT IDUA
11 hearing/vestibular/ear MP:0005377 10.25 ARSA ARSB FUCA1 GUSB HEXA HEXB
12 renal/urinary system MP:0005367 10.25 AGA ARSB CLN3 CTNS CTSA FUCA1
13 craniofacial MP:0005382 10.22 ARSB CTSA GUSB HEXA HEXB IDS
14 integument MP:0010771 10.19 AGA CTSA GBA GUSB IDS IDUA
15 limbs/digits/tail MP:0005371 10.08 ARSB GUSB HEXA HEXB HGSNAT IDS
16 muscle MP:0005369 10.01 ARSB CTNS HEXB IDS IDUA MAN2B1
17 reproductive system MP:0005389 9.91 ARSB CLN3 CTSA GLB1 GUSB HEXA
18 skeleton MP:0005390 9.8 ARSB CTNS GBA GLB1 GUSB HEXA
19 respiratory system MP:0005388 9.7 ARSB CTSA GBA HGSNAT IDS NEU1
20 vision/eye MP:0005391 9.36 ARSB CLN3 CTNS HEXA HEXB IDS

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Miglustat Approved Phase 2 72599-27-0 51634
Busulfan Approved, Investigational Phase 2 55-98-1 2478
3 Anti-HIV Agents Phase 2
4 Cardiac Glycosides Phase 2
5 Anti-Infective Agents Phase 2
6 Antiviral Agents Phase 2
7 Anti-Retroviral Agents Phase 2
8 Hypoglycemic Agents Phase 2
9 Glycoside Hydrolase Inhibitors Phase 2
Melphalan Approved Phase 1 148-82-3 4053 460612
alemtuzumab Approved, Investigational Phase 1 216503-57-0
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
Hydroxyurea Approved Phase 1 127-07-1 3657
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
15 Immunosuppressive Agents Phase 1
16 Alkylating Agents Phase 1
17 Pharmaceutical Solutions Phase 1
tannic acid Approved 1401-55-4
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
Mycophenolic acid Approved 24280-93-1 446541
Clofarabine Approved, Investigational 123318-82-1 119182
Clotrimazole Approved, Vet_approved 23593-75-1 2812
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
24 Antibiotics, Antitubercular
25 Antifungal Agents
26 Antitubercular Agents
27 Antineoplastic Agents, Immunological
28 Antirheumatic Agents
29 Antimetabolites
30 Anti-Bacterial Agents
31 Cyclosporins
32 Dermatologic Agents
33 Calcineurin Inhibitors
34 Immunoglobulins
35 Antibodies
36 Immunologic Factors
37 Liver Extracts
38 Antibodies, Blocking
39 Complement System Proteins

Interventional clinical trials:

(show all 48)
# Name Status NCT ID Phase Drugs
1 A Multi-Center, Open-Label Study Evaluating Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00607386 Phase 4
2 A Controlled, Randomized, Two-arm, Open-label, Assessor-blinded, Multicenter 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
3 An Open-Label Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Iduronate-2-Sulfatase Enzyme Replacement Therapy Completed NCT00630747 Phase 2, Phase 3
4 A Phase 3 Multicenter, Open-label, Switchover Trial to Assess the Safety and Efficacy of Plant Cell Expressed Recombinant Human Glucocerebrosidase in Patients With Gaucher Disease Treated With Imiglucerase Completed NCT00712348 Phase 3 Taliglucerase alfa
5 A Randomized, Placebo-Controlled, Blind-Start, Single-Crossover Phase 3 Study to Assess the Efficacy and Safety of UX003 rhGUS Enzyme Replacement Therapy in Patients With MPS 7 Completed NCT02230566 Phase 3 UX003
6 An Open Label, Non-randomized Trial to Evaluate the Safety and Efficacy of a Single Infusion of OTL-200 in Patients With Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD). Recruiting NCT04283227 Phase 3
7 Arimoclomol Prospective Doubleblind, Randomised, Placebo-controlled Study in Patients Diagnosed With NiemannPick Disease Type C Active, not recruiting NCT02612129 Phase 2, Phase 3 arimoclomol;Placebo
8 A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism Terminated NCT00654433 Phase 3
9 A Phase I/II, Randomized, Safety and Ascending Dose Ranging Study of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase in Pediatric Patients With Hunter Syndrome and Cognitive Impairment Completed NCT00920647 Phase 1, Phase 2 Idursulfase IT (1 mg);Idursulfase IT (10 mg);Idursulfase IT (30 mg)
10 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
11 Phase 1/2 Study to Determine Safety and Efficacy of Transplantation w/ Autologous Human CD34+ Cells From Mobilized Peripheral Blood Stem Cells of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS Lentiviral Vector Recruiting NCT03897361 Phase 1, Phase 2
12 A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease Recruiting NCT04040049 Phase 1, Phase 2
13 Phase 1/2, Dose-escalation Study to Evaluate the Safety, Tolerability and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults With Late-onset Pompe Disease Recruiting NCT04093349 Phase 1, Phase 2
14 An Open-Label Extension of Study HGT-HIT-045 Evaluating Long-Term Safety and Clinical Outcomes of Intrathecal Idursulfase-IT Administered in Conjunction With Intravenous Elaprase® in Pediatric Patients With Hunter Syndrome and Cognitive Impairment Active, not recruiting NCT01506141 Phase 1, Phase 2 Idursulfase-IT;Elaprase
15 A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic Leukodystrophy Active, not recruiting NCT01560182 Phase 1, Phase 2
16 A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD) Active, not recruiting NCT03392987 Phase 2
17 A Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood Transplantation Completed NCT00744692 Phase 1 Reduced Intensity Conditioning
18 In Utero Enzyme Replacement Therapy (ERT) for Prenatally Diagnosed Lysosomal Storage Disorders (LSDs). Not yet recruiting NCT04532047 Phase 1 Aldurazyme (laronidase)
19 A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00215527 Phase 1 laronidase
20 An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00786968 Phase 1 laronidase
21 Treatment of Early Infantile-Onset Lysosomal Storage Diseases With Fetal Umbilical Cord Blood (UCB) Transplantation Withdrawn NCT01003912 Phase 1
22 Identification of Undiagnosed Gaucher Disease Unknown status NCT01716741
23 Cellular Pharmacodynamics of Small Molecules in Sanfilippo Disease(s) (MPS3) and Other Lysosomal Storage Disorders Unknown status NCT03812055
24 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
25 Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Unknown status NCT02000310
26 Enzymatic and Genotypic Screening of Lysosomal Storage Diseases in Minority Groups Unknown status NCT03812042
27 A Multi-Center Observational Study Evaluating Anti-Idursulfase Serum Antibody Response in Hunter Syndrome Patients Enrolled in the Hunter Outcome Survey (HOS) Receiving Idursulfase Enzyme Replacement Therapy Completed NCT00882921
28 A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C in Order to Characterise the Individual Patient Disease Profile and Historic Signo-symptomatology Progression Pattern Completed NCT02435030
29 Characterization of the Patient Population With Galactosialidosis Completed NCT01416467
30 Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease: An International, Multicenter, Epidemiological Protocol Completed NCT02416661
31 The Nosology and Etiology of Leukodystrophies of Unknown Cause Completed NCT00001671
32 Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT) Completed NCT01626092 Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
33 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
34 Stimulation of the Human Central and Peripheral Nervous System With a Magnetic Stimulator Completed NCT00001780
35 A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Completed NCT00852358 laronidase
36 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
37 A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease Recruiting NCT03893240
38 A Pilot Study of Diet and Exercise Therapy in Pompe Disease Recruiting NCT02363153
39 A Multicentre, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects With Fabry Disease Recruiting NCT04455230
40 Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders Recruiting NCT04399694
41 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
42 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
43 Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders Enrolling by invitation NCT00001215
44 A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry Not yet recruiting NCT04393701
45 Complement Activation in the Lysosomal Storage Disorders Not yet recruiting NCT04189601
46 Expanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR αβ+T Cells In Pediatric Patients Affected by Hematological and Other Disorders No longer available NCT03639844 rimiducid
47 A Natural History Study of Aspartylglucosaminuria Suspended NCT03853876
48 Natural History Study of Children With Metachromatic Leukodystrophy Terminated NCT01963650

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:

Bone Marrow, Skin, Spinal Cord, T Cells, Brain, Liver, Retina

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 3137)
# Title Authors PMID Year
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells. 61 54
20152898 2010
Mucopolysaccharidosis VI. 61 54
20385007 2010
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. 61 54
20410102 2010
Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines. 54 61
19864504 2010
A self-inactivating gamma-retroviral vector reduces manifestations of mucopolysaccharidosis I in mice. 61 54
19844196 2010
Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. 54 61
19864416 2009
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). 61 54
19699491 2009
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 54 61
19587708 2009
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. 54 61
19568825 2009
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 61 54
19632871 2009
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. 61 54
19097920 2009
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. 54 61
19809509 2009
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. 54 61
19666471 2009
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. 61 54
19578116 2009
Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. 54 61
19213078 2009
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. 61 54
19394256 2009
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. 54 61
19368525 2009
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. 61 54
19167257 2009
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. 54 61
20225018 2009
The endosomal network. 54 61
20040307 2009
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. 61 54
19041749 2008
A case of galactosialidosis with a homozygous Q49R point mutation. 54 61
18396002 2008
Aptamer-based endocytosis of a lysosomal enzyme. 61 54
18838694 2008
Autophagic dysfunction in mucolipidosis type IV patients. 54 61
18550655 2008
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. 61 54
18613275 2008
Immune response hinders therapy for lysosomal storage diseases. 54 61
18654672 2008
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 61 54
18618289 2008
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. 54 61
18486607 2008
Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. 61 54
18772556 2008
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. 54 61
18502162 2008
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. 54 61
18479957 2008
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. 61 54
18429048 2008
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. 61 54
18331837 2008
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. 61 54
18509892 2008
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. 61 54
18339182 2008
Lysosomes in iron metabolism, ageing and apoptosis. 54 61
18259769 2008
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. 61 54
18314010 2008
Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. 54 61
17988215 2008
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. 54 61
17672828 2008
Human chitotriosidase: a potential new marker of sarcoidosis severity. 54 61
18487875 2008
Pompe disease: current state of treatment modalities and animal models. 61 54
17826266 2007
Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. 61 54
17924344 2007
The role of calcium and other ions in sorting and delivery in the late endocytic pathway. 54 61
17956286 2007
[Hematological aspects of Gaucher disease]. 54 61
18228684 2007
[Fabry disease. An interdisciplinary challenge]. 61 54
17940933 2007
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 54 61
17718826 2007
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family. 61 54
17574891 2007
Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. 61 54
17557860 2007
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. 61 54
17033804 2007
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 54 61
17460717 2007

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:

# 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
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GO Terms for Lysosomal Storage Disease

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.16 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
2 extracellular region GO:0005576 10.07 NEU1 MAN2B1 HEXB GUSB GLB1 FUCA1
3 intracellular membrane-bounded organelle GO:0043231 9.95 NEU1 MAN2B1 HEXA GUSB GLB1 CTSA
4 lysosomal lumen GO:0043202 9.86 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
5 azurophil granule lumen GO:0035578 9.81 MAN2B1 HEXB GUSB GLB1 FUCA1 CTSA
6 lysosomal membrane GO:0005765 9.8 NEU1 HGSNAT GBA CTSA CTNS CLN3
7 ficolin-1-rich granule lumen GO:1904813 9.63 GUSB GLB1 ARSB
8 lysosome GO:0005764 9.62 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
9 vacuolar membrane GO:0005774 9.49 MAN2B1 CTNS
10 vacuole GO:0005773 9.48 GLB1 CLN3
11 azurophil granule GO:0042582 9.43 HEXB HEXA

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 carbohydrate metabolic process GO:0005975 10.01 NEU1 MAN2B1 IDUA HEXB HEXA GUSB
2 neutrophil degranulation GO:0043312 10 NEU1 MAN2B1 HGSNAT HEXB GUSB GLB1
3 lysosome organization GO:0007040 9.85 TPP1 NAGLU HEXB GBA CLN3 ARSB
4 central nervous system development GO:0007417 9.83 TPP1 GBA ARSB ARSA
5 response to estrogen GO:0043627 9.74 GBA ARSB ARSA
6 chondroitin sulfate catabolic process GO:0030207 9.72 IDUA IDS HEXB HEXA ARSB
7 neuromuscular process controlling balance GO:0050885 9.71 TPP1 HEXB CLN3
8 glycosphingolipid metabolic process GO:0006687 9.7 NEU1 HEXB HEXA GLB1 GBA CTSA
9 hyaluronan catabolic process GO:0030214 9.69 HEXB HEXA GUSB
10 keratan sulfate catabolic process GO:0042340 9.67 HEXB HEXA GLB1
11 response to pH GO:0009268 9.65 GBA ARSB ARSA
12 metabolic process GO:0008152 9.65 NEU1 NAGLU MAN2B1 IDUA HEXB HEXA
13 oligosaccharide catabolic process GO:0009313 9.63 NEU1 MAN2B1 HEXB
14 neuromuscular process GO:0050905 9.61 HEXB GBA
15 ganglioside catabolic process GO:0006689 9.61 NEU1 HEXB HEXA
16 lipid storage GO:0019915 9.6 HEXB GBA
17 lysosomal transport GO:0007041 9.59 HGSNAT ARSB
18 glycosaminoglycan metabolic process GO:0030203 9.58 SGSH HEXB
19 protein deglycosylation GO:0006517 9.58 MAN2B1 AGA
20 lysosomal protein catabolic process GO:1905146 9.56 TPP1 CLN3
21 response to methylmercury GO:0051597 9.55 ARSB ARSA
22 glycosaminoglycan catabolic process GO:0006027 9.23 SGSH NAGLU IDUA IDS HGSNAT GUSB

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

# Name GO ID Score Top Affiliating Genes
1 catalytic activity GO:0003824 9.83 SGSH MAN2B1 IDS ARSB ARSA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 9.65 NEU1 NAGLU MAN2B1 IDUA HEXB HEXA
3 sulfuric ester hydrolase activity GO:0008484 9.56 SGSH IDS ARSB ARSA
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.55 IDUA HEXB HEXA GUSB GLB1
5 hydrolase activity GO:0016787 9.55 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
6 arylsulfatase activity GO:0004065 9.46 ARSB ARSA
7 sulfatide binding GO:0120146 9.4 TPP1 CLN3
8 beta-N-acetylhexosaminidase activity GO:0004563 9.37 HEXB HEXA
9 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.32 HEXB HEXA

Sources for Lysosomal Storage Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
70 Tocris
72 UMLS via Orphanet
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