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MCID: LYS002
MIFTS: 52

Lysosomal Storage Disease

Categories: Genetic diseases, Metabolic diseases
Genes Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Lysosomal Storage Disease

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MalaCards integrated aliases for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 12 74 36 15 37
Lysosomal Storage Diseases 54 43 71
Lysosomal Storage Metabolism Disorder 12
Inborn Lysosomal Enzyme Disorder 12
Disorder of Lysosomal Enzyme 12

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:3211
KEGG 36 H01425
MeSH 43 D016464
NCIt 49 C61250
SNOMED-CT 67 23585005
UMLS 71 C0085078
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Summaries for Lysosomal Storage Disease

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KEGG : 36 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 Pharmaceutical Solutions and Miglustat have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and liver, 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; /?la?s?'so?m?l/) are a group of about 50 rare inherited metabolic... more...

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Related Diseases for Lysosomal Storage Disease

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

(show top 50) (show all 219)
# Related Disease Score Top Affiliating Genes
1 fucosidosis 34.3 NAGLU IDUA HEXA GLB1 GALNS FUCA1
2 galactosialidosis 33.8 NEU1 GLB1 CTSA
3 mannosidosis, alpha b, lysosomal 33.6 NAGLU GUSB ARSA
4 neuraminidase deficiency 33.6 NEU1 GLB1 CTSA
5 aspartylglucosaminuria 33.6 CLN3 ARSA AGA
6 fabry disease 33.6 GUSB GBA FUCA1 ARSA
7 mucopolysaccharidosis, type vii 33.5 TPP1 SGSH NAGLU IDUA HGSNAT GUSB
8 gm1-gangliosidosis, type i 33.5 NEU1 HEXA GLB1 ARSA
9 hurler syndrome 33.5 IDUA GLB1
10 neuronal ceroid lipofuscinosis 33.4 TPP1 SGSH NAGLU CLN3
11 mucopolysaccharidosis, type iiia 33.4 SGSH NAGLU
12 mucolipidosis ii alpha/beta 33.4 NEU1 GUSB FUCA1
13 tay-sachs disease 33.4 NEU1 NAGLU HEXB HEXA GBA CTSA
14 mucopolysaccharidosis, type vi 33.4 SGSH NAGLU IDUA IDS HGSNAT GUSB
15 mucopolysaccharidosis, type ii 33.4 SGSH NAGLU IDUA IDS HGSNAT GALNS
16 metachromatic leukodystrophy 33.3 SGSH NAGLU IDUA IDS HEXA CTSA
17 glycoproteinosis 33.3 NEU1 GLB1 GALNS CTSA
18 gaucher disease, type i 33.3 HEXA GBA ARSA
19 gangliosidosis 33.3 NEU1 HEXB HEXA GLB1 GALNS CTSA
20 krabbe disease 33.3 NAGLU IDUA GBA CTSA ARSA
21 ceroid lipofuscinosis, neuronal, 7 33.3 TPP1 SGSH CLN3
22 multiple sulfatase deficiency 33.3 IDS GALNS ARSB ARSA
23 sandhoff disease 33.2 NAGLU HEXB HEXA CTSA ARSA
24 mucopolysaccharidosis iii 33.2 TPP1 SGSH NAGLU HGSNAT CLN3 ARSA
25 mucopolysaccharidosis-plus syndrome 33.1 TPP1 SGSH NAGLU IDUA IDS HGSNAT
26 lipid storage disease 33.1 TPP1 HEXA GLB1 GBA CTSA CLN3
27 scheie syndrome 33.0 SGSH NAGLU IDUA IDS HGSNAT GUSB
28 gm2-gangliosidosis, ab variant 32.8 HEXB HEXA GLB1
29 gm1-gangliosidosis, type ii 32.8 HEXB GLB1 GALNS
30 ceroid lipofuscinosis, neuronal, 13 32.8 TPP1 SGSH CLN3
31 ceroid lipofuscinosis, neuronal, 4a, autosomal recessive 32.8 TPP1 IDUA CLN3
32 inclusion-cell disease 32.8 IDS GALNS ARSA
33 ceroid lipofuscinosis, neuronal, 10 32.8 TPP1 SGSH CLN3
34 ceroid lipofuscinosis, neuronal, 3 32.7 TPP1 NAGLU CLN3
35 gaucher disease, perinatal lethal 32.5 GBA ARSA
36 mucolipidosis iii alpha/beta 32.4 GUSB FUCA1
37 mucopolysaccharidoses 31.9 NAGLU IDUA GUSB ARSB
38 mucolipidosis 31.7 NEU1 HEXA GALNS CTSA ARSA
39 gm1 gangliosidosis 31.6 NEU1 NAGLU HEXA GLB1 GALNS CTSA
40 hydrops fetalis, nonimmune 31.6 NEU1 GUSB GBA
41 inherited metabolic disorder 31.5 NAGLU IDUA GBA GALNS CLN3 ARSA
42 gm2 gangliosidosis 31.5 NEU1 NAGLU HEXB HEXA GBA CTSA
43 angiokeratoma 31.3 NEU1 FUCA1 CTSA AGA
44 lysosomal disease 31.2 GBA AGA
45 sphingolipidosis 31.2 SGSH NAGLU IDUA HEXB HEXA GLB1
46 immune hydrops fetalis 31.1 GUSB GBA
47 mucopolysaccharidosis iv 30.9 SGSH IDS GLB1 GALNS ARSB ARSA
48 morquio syndrome 30.7 NEU1 GUSB GLB1 GALNS CTSA
49 dysostosis 30.5 NEU1 FUCA1 ARSA
50 lysosomal storage disease with skeletal involvement 12.5

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



Diseases related to Lysosomal Storage Disease
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Symptoms & Phenotypes for Lysosomal Storage Disease

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MGI Mouse Phenotypes related to Lysosomal Storage Disease:

45 (show all 19)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.56 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 CTSA FUCA1 GBA GLB1
5 hematopoietic system MP:0005397 10.38 ARSA ARSB CLN3 CTSA GBA GLB1
6 mortality/aging MP:0010768 10.31 AGA CLN3 CTSA GBA GLB1 GUSB
7 immune system MP:0005387 10.29 ARSA CLN3 CTSA GBA GLB1 HEXB
8 liver/biliary system MP:0005370 10.27 AGA CLN3 CTSA GBA GLB1 HEXA
9 nervous system MP:0003631 10.27 AGA ARSA ARSB CLN3 FUCA1 GBA
10 renal/urinary system MP:0005367 10.25 AGA ARSB CLN3 CTNS CTSA FUCA1
11 craniofacial MP:0005382 10.22 ARSB CTSA GUSB HEXA HEXB IDS
12 integument MP:0010771 10.19 AGA CTSA GBA GUSB IDS IDUA
13 hearing/vestibular/ear MP:0005377 10.09 ARSA ARSB GUSB HEXA HEXB IDUA
14 limbs/digits/tail MP:0005371 10.08 ARSB GUSB HEXA HEXB HGSNAT IDS
15 muscle MP:0005369 9.95 ARSB CTNS HEXB IDS IDUA NEU1
16 reproductive system MP:0005389 9.91 ARSB CLN3 CTSA GLB1 GUSB HEXA
17 skeleton MP:0005390 9.83 ARSB CTNS FUCA1 GALNS GBA GLB1
18 respiratory system MP:0005388 9.7 ARSB CTSA GBA HGSNAT IDS NEU1
19 vision/eye MP:0005391 9.36 ARSB CLN3 CTNS GALNS HEXA HEXB
Sources

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show top 50) (show all 69)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 4
2
Miglustat Approved Phase 3 72599-27-0 51634
3
1-Deoxynojirimycin Investigational Phase 3 19130-96-2 1374
4 Hypoglycemic Agents Phase 3
5 Anti-Retroviral Agents Phase 3
6 Glycoside Hydrolase Inhibitors Phase 3
7 Cardiac Glycosides Phase 3
8 Anti-HIV Agents Phase 3
9 lysine Phase 2, Phase 3
10 Anti-Infective Agents Phase 3
11 Antiviral Agents Phase 3
12
Acetylcysteine Approved, Investigational Phase 1, Phase 2 616-91-1 12035
13
Busulfan Approved, Investigational Phase 2 55-98-1 2478
14
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2 1406-16-2
15
Calcitriol Approved, Nutraceutical Phase 2 32222-06-3 134070 5280453
16
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
17 Liver Extracts Phase 2
18 Vitamins Phase 2
19 Calciferol Phase 2
20 Protective Agents Phase 1, Phase 2
21 N-monoacetylcystine Phase 1, Phase 2
22 Free Radical Scavengers Phase 1, Phase 2
23 Antioxidants Phase 1, Phase 2
24 Respiratory System Agents Phase 1, Phase 2
25 Antidotes Phase 1, Phase 2
26 Expectorants Phase 1, Phase 2
27
Melphalan Approved Phase 1 148-82-3 4053 460612
28
alemtuzumab Approved, Investigational Phase 1 216503-57-0
29
Hydroxyurea Approved Phase 1 127-07-1 3657
30
Fludarabine Approved Phase 1 21679-14-1, 75607-67-9 30751
31
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
32
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
33
Clofarabine Approved, Investigational 123318-82-1 119182
34
Mycophenolic acid Approved 24280-93-1 446541
35
tannic acid Approved 1401-55-4
36
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
37
Cysteamine Approved, Investigational 60-23-1 6058
38
Sodium citrate Approved, Investigational 68-04-2
39
Hydroxychloroquine Approved 118-42-3 3652
40
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
41 Alkylating Agents
42 Antitubercular Agents
43 Antineoplastic Agents, Immunological
44 Antifungal Agents
45 Dermatologic Agents
46 Cyclosporins
47 Immunosuppressive Agents
48 Antimetabolites
49 Calcineurin Inhibitors
50 Autoantibodies

Interventional clinical trials:

(show top 50) (show all 106)
# 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 Long-Term Open-Label Treatment and Extension Study of UX003 rhGUS Enzyme Replacement Therapy in Subjects With MPS 7 Completed NCT02432144 Phase 3 UX003
3 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
4 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
5 A Multicenter, Open-label Extension Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01842841 Phase 3 velaglucerase alfa
6 A Multicenter, Open-Label Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher Disease Completed NCT01614574 Phase 3
7 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
8 A Multicenter, Randomized, Placebo-controlled Study of SBC-102 in Patients With Lysosomal Acid Lipase Deficiency Completed NCT01757184 Phase 3 Sebelipase Alfa;Placebo
9 Survey of Miglustat Therapeutic Effects on Neurological and Systemic Symptoms of Infantile Type of Sandhoff and Taysachs Diseases Recruiting NCT03822013 Phase 3 Miglustat
10 Open-label, Single-arm, Multi-center Study of Intracerebral Administration of Adeno-associated Viral (AAV) Serotype rh.10 Carrying Human N-sulfoglucosamine Sulfohydrolase (SGSH) cDNA for Treatment of Mucopolysaccharidosis Type IIIA Recruiting NCT03612869 Phase 2, Phase 3 LYS-SAF302
11 An Open-label Study of the Safety, Pharmacokinetics, Pharmacodynamics, and Efficacy of 12 Month Treatment With Migalastat in Pediatric Subjects (Aged 12 to <18 Years) With Fabry Disease and Amenable GLA Variants Recruiting NCT03500094 Phase 3 migalastat HCl 150 mg
12 An Open-Label Extension Study to Evaluate the Long Term Safety and Efficacy of Migalastat Hydrochloride Monotherapy in Subjects With Fabry Disease Active, not recruiting NCT02194985 Phase 3 migalastat HCl 150 mg
13 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
14 A Long-term, Open-label Study to Evaluate the Safety, Pharmacodynamics, and Efficacy of Migalastat in Subjects > 12 Years of Age With Fabry Disease and Amenable GLA Variants Not yet recruiting NCT04049760 Phase 3 migalastat HCl 150 mg
15 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
16 A Multi-Center, Open-Label Study of Sebelipase Alfa in Patients With Lysosomal Acid Lipase Deficiency Completed NCT02112994 Phase 2 Sebelipase Alfa
17 An Open-label Study of UX003 rhGUS Enzyme Replacement Therapy in MPS 7 Patients Less Than 5 Years Old Completed NCT02418455 Phase 2 UX003
18 Pharmacokinetics and Tolerability of Zavesca® (Miglustat) In Patients With Juvenile GM2 Gangliosidosis: Single and Multiple Oral Doses Completed NCT00418847 Phase 2 miglustat
19 A Phase I/II Open Label Study in MPS IIIB Subjects to Investigate the Safety, Pharmacokinetics, and Pharmacodynamics/Efficacy of SBC-103 Administered Intravenously Completed NCT02324049 Phase 1, Phase 2 SBC-103
20 A Randomized, Controlled, Open-label, Multicenter, Phase IIb Safety and Efficacy Study of rhHNS (Recombinant Human Heparan N Sulfatase) Administration Via an Intrathecal Drug Delivery Device in Pediatric Patients With Early Stage Mucopolysaccharidosis Type IIIA Disease Completed NCT02060526 Phase 2 Recombinant human heparan N-sulfatase [rhHNS]
21 A Phase I/II Safety, Tolerability, Ascending Dose and Dose Frequency Study of Recombinant Human Heparan N-Sulfatase (rhHNS) Intrathecal Administration Via an Intrathecal Drug Delivery Device in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Completed NCT01155778 Phase 1, Phase 2
22 An Open-Label Phase 1/2 Study to Assess the Safety, Efficacy and Dose of UX003 rhGUS Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7) Completed NCT01856218 Phase 1, Phase 2 UX003
23 An Open Label Multicenter Extension Study to Evaluate the Long-Term Safety, Tolerability, and Efficacy of SBC-102 in Adult Subjects With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Who Previously Received Treatment in Study LAL-CL01 Completed NCT01488097 Phase 2 sebelipase alfa
24 An Open-Label Multicenter Study to Evaluate the Safety, Tolerability and Pharmacokinetics of SBC-102 in Adult Participants With Liver Dysfunction Due to Lysosomal Acid Lipase Deficiency Completed NCT01307098 Phase 1, Phase 2 Sebelipase alfa 0.35 mg/kg;Sebelipase alfa 1 mg/kg;Sebelipase alfa 3 mg/kg
25 Skeletal Responses to Macrophage-Targeted Glucocerebrosidase in Patients With Type 1 Gaucher's Disease Completed NCT00001416 Phase 2 CEREDASEâ„¢
26 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)
27 Biomarker Validation for Niemann-Pick Disease, Type C: Safety and Efficacy of N-Acetyl Cysteine Completed NCT00975689 Phase 1, Phase 2 N-Acetyl Cysteine
28 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) Recruiting NCT03392987 Phase 2
29 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
30 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
31 A Phase I/II, Multicenter, Open-Label, Single-Dose, Dose-Ranging Study to Assess the Safety and Tolerability of ST-920, a rAAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects With Fabry Disease Recruiting NCT04046224 Phase 1, Phase 2
32 An Open, Non-controlled, Parallel, Ascending Multiple-dose, Multicenter Study to Assess Safety and Tolerability, Pharmacokinetics and Pharmacodynamics of SOBI003 in Pediatric MPS IIIA Patients Recruiting NCT03423186 Phase 1, Phase 2 SOBI003
33 An Open, Single-arm, Multicenter Extension Study to Assess the Safety, Tolerability, and Efficacy of Long-term SOBI003 Treatment in Pediatric MPS IIIA Patients Recruiting NCT03811028 Phase 1, Phase 2 SOBI003
34 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
35 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
36 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 Not yet recruiting NCT04093349 Phase 1, Phase 2
37 An Open-Label Extension of Study HGT-SAN-055 Evaluating Long Term Safety and Clinical Outcomes of Intrathecal Administration of rhHNS in Patients With Sanfilippo Syndrome Type A (MPS IIIA) Terminated NCT01299727 Phase 1, Phase 2
38 A Multicenter Access and Distribution Protocol for Unlicensed Cryopreserved Cord Blood Units (CBUs) for Transplantation in Pediatric and Adult Patients With Hematologic Malignancies and Other Indications Withdrawn NCT01479582 Phase 2 Access to unlicensed cord blood units
39 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
40 Retroviral-Mediated Transfer and Expression of Glucocerebrosidase and Ceramidtrihexosidase (a-Galactosidase A) cDNA's in Human Hematopoietic Progenitor Cells Completed NCT00001234 Phase 1
41 A Phase I and II Study of PEG-Glucocerebrosidase in Patients With Type 1 or Type 3 Gaucher Disease Completed NCT00001410 Phase 1 Lysodase
42 Administration of a Replication Deficient Adeno-associated Virus Gene Transfer Vector Expressing the Human CLN2 cDNA to the Brain of Children With Late Infantile Neuronal Ceroid Lipofuscinosis Active, not recruiting NCT00151216 Phase 1
43 A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00215527 Phase 1 laronidase
44 An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00786968 Phase 1 laronidase
45 Treatment of Early Infantile-Onset Lysosomal Storage Diseases With Fetal Umbilical Cord Blood (UCB) Transplantation Withdrawn NCT01003912 Phase 1
46 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
47 Lipidomics and Functional Analyses of Platelets in Fabry Disease Unknown status NCT02649660
48 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
49 Study of the Prevalence of Fabry Disease in French Dialysis Patients Unknown status NCT02843334
50 Detection of Pompe Disease in Adult Patients With Myopathies of Uncertain Origin or With Asymptomatic Hyper-CK-emia Unknown status NCT01482494

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:
Hemacord, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution
ALD-601, umbilical cord blood cells for early infantile-onset lysosomal storage diseases
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

Sources

Genetic Tests for Lysosomal Storage Disease

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Sources

Anatomical Context for Lysosomal Storage Disease

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MalaCards organs/tissues related to Lysosomal Storage Disease:

40
Brain, Bone, Liver, Bone Marrow, Skin, Heart, Testes
Sources

Publications for Lysosomal Storage Disease

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Articles related to Lysosomal Storage Disease:

(show top 50) (show all 2935)
# Title Authors PMID Year
1
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells. 54 61
20152898 2010
2
Mucopolysaccharidosis VI. 54 61
20385007 2010
3
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. 54 61
20410102 2010
4
Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines. 54 61
19864504 2010
5
A self-inactivating gamma-retroviral vector reduces manifestations of mucopolysaccharidosis I in mice. 54 61
19844196 2010
6
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). 54 61
19699491 2009
7
Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. 54 61
19864416 2009
8
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 54 61
19632871 2009
9
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. 54 61
19097920 2009
10
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
11
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 54 61
19587708 2009
12
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
13
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. 54 61
19666471 2009
14
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. 54 61
19578116 2009
15
Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. 54 61
19213078 2009
16
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. 54 61
19394256 2009
17
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. 54 61
19368525 2009
18
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. 54 61
19167257 2009
19
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. 54 61
20225018 2009
20
The endosomal network. 54 61
20040307 2009
21
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. 54 61
19041749 2008
22
A case of galactosialidosis with a homozygous Q49R point mutation. 54 61
18396002 2008
23
Aptamer-based endocytosis of a lysosomal enzyme. 54 61
18838694 2008
24
Autophagic dysfunction in mucolipidosis type IV patients. 54 61
18550655 2008
25
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. 54 61
18613275 2008
26
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 54 61
18618289 2008
27
Immune response hinders therapy for lysosomal storage diseases. 54 61
18654672 2008
28
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. 54 61
18486607 2008
29
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
30
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. 54 61
18772556 2008
31
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. 54 61
18479957 2008
32
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. 54 61
18429048 2008
33
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. 54 61
18331837 2008
34
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. 54 61
18509892 2008
35
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. 54 61
18339182 2008
36
Lysosomes in iron metabolism, ageing and apoptosis. 54 61
18259769 2008
37
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. 54 61
18314010 2008
38
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. 54 61
17672828 2008
39
Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. 54 61
17988215 2008
40
Human chitotriosidase: a potential new marker of sarcoidosis severity. 54 61
18487875 2008
41
Pompe disease: current state of treatment modalities and animal models. 54 61
17826266 2007
42
Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. 54 61
17924344 2007
43
The role of calcium and other ions in sorting and delivery in the late endocytic pathway. 54 61
17956286 2007
44
[Hematological aspects of Gaucher disease]. 54 61
18228684 2007
45
[Fabry disease. An interdisciplinary challenge]. 54 61
17940933 2007
46
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 54 61
17718826 2007
47
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family. 54 61
17574891 2007
48
Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. 54 61
17557860 2007
49
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. 54 61
17033804 2007
50
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 54 61
17460717 2007
Sources

Variations for Lysosomal Storage Disease

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Expression for Lysosomal Storage Disease

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

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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
Metabolism 65
Show member pathways
 13.93 SGSH NEU1 NAGLU IDUA IDS HGSNAT
2
Innate Immune System 65
Show member pathways
 13.81 NEU1 HGSNAT HEXB GUSB GLB1 GALNS
3
Glycosaminoglycan metabolism 65
Show member pathways
 12.77 SGSH NAGLU IDUA IDS HEXB HEXA
4
Chondroitin sulfate/dermatan sulfate metabolism 65
Show member pathways
 12.42 SGSH NAGLU IDUA IDS HEXB HEXA
5
Sphingolipid metabolism 65 36 1
Show member pathways
 12.33 NEU1 HEXB HEXA GLB1 GBA CTSA
6
Lysosome 36
11.71 TPP1 SGSH NEU1 NAGLU IDUA IDS
7
Keratan sulfate/keratin metabolism 65
Show member pathways
 11.58 HEXB HEXA GLB1
8
Glycosphingolipid biosynthesis - ganglio series 36
Show member pathways
 11.06 HEXB HEXA GLB1
9
Glycosaminoglycan degradation 36
Show member pathways
 11 SGSH NAGLU IDUA IDS HGSNAT HEXB
10
Other glycan degradation 36
10.96 NEU1 HEXB HEXA GLB1 GBA FUCA1
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GO Terms for Lysosomal Storage Disease

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 10.16 TPP1 SGSH NEU1 NAGLU IDUA HEXB
2 extracellular region GO:0005576 10.07 NEU1 HEXB GUSB GLB1 GALNS FUCA1
3 lysosomal lumen GO:0043202 9.86 TPP1 SGSH NEU1 NAGLU IDUA IDS
4 azurophil granule lumen GO:0035578 9.81 HEXB GUSB GLB1 GALNS FUCA1 CTSA
5 lysosomal membrane GO:0005765 9.8 NEU1 HGSNAT GBA CTSA CTNS CLN3
6 ficolin-1-rich granule lumen GO:1904813 9.61 GUSB GLB1 ARSB
7 lysosome GO:0005764 9.6 TPP1 SGSH NEU1 NAGLU IDUA IDS
8 azurophil granule GO:0042582 9.4 HEXB HEXA

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 10 NEU1 HGSNAT HEXB GUSB GLB1 GALNS
2 carbohydrate metabolic process GO:0005975 9.98 NEU1 IDUA HEXB HEXA GUSB GLB1
3 metabolic process GO:0008152 9.81 NEU1 NAGLU IDUA HEXB HEXA GUSB
4 lysosome organization GO:0007040 9.8 TPP1 NAGLU HEXB GBA CLN3 ARSB
5 chondroitin sulfate catabolic process GO:0030207 9.77 IDUA IDS HEXB HEXA ARSB
6 central nervous system development GO:0007417 9.75 TPP1 ARSB ARSA
7 keratan sulfate catabolic process GO:0042340 9.71 HEXB HEXA GLB1 GALNS
8 response to estrogen GO:0043627 9.7 GBA ARSB ARSA
9 neuromuscular process controlling balance GO:0050885 9.67 TPP1 HEXB CLN3
10 hyaluronan catabolic process GO:0030214 9.65 HEXB HEXA GUSB
11 response to pH GO:0009268 9.63 GBA ARSB ARSA
12 lysosomal transport GO:0007041 9.57 HGSNAT ARSB
13 glycosaminoglycan metabolic process GO:0030203 9.56 SGSH HEXB
14 oligosaccharide catabolic process GO:0009313 9.55 NEU1 HEXB
15 response to methylmercury GO:0051597 9.54 ARSB ARSA
16 ganglioside catabolic process GO:0006689 9.51 NEU1 HEXB
17 glycosphingolipid metabolic process GO:0006687 9.5 NEU1 HEXB HEXA GLB1 GBA CTSA
18 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 hydrolase activity, acting on glycosyl bonds GO:0016798 9.61 NEU1 NAGLU IDUA HEXB HEXA GUSB
2 sulfuric ester hydrolase activity GO:0008484 9.55 SGSH IDS GALNS ARSB ARSA
3 hydrolase activity GO:0016787 9.55 TPP1 SGSH NEU1 NAGLU IDUA IDS
4 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.43 IDUA HEXB
5 arylsulfatase activity GO:0004065 9.43 GALNS ARSB ARSA
6 beta-N-acetylhexosaminidase activity GO:0004563 9.4 HEXB HEXA
7 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.37 HEXB HEXA
8 N-acetylgalactosamine-4-sulfatase activity GO:0003943 9.32 GALNS ARSB
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Sources for Lysosomal Storage Disease

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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