MCID: LYS002
MIFTS: 51

Lysosomal Storage Disease

Categories: Genetic diseases, Metabolic diseases
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Aliases & Classifications for Lysosomal Storage Disease

MalaCards integrated aliases for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease 11 75 28 14 36
Lysosomal Storage Diseases 53 43 71
Lysosomal Storage Metabolism Disorder 11
Inborn Lysosomal Enzyme Disorder 11
Disorder of Lysosomal Enzyme 11
Lysosomal Storage Disorder 14

Classifications:



External Ids:

Disease Ontology 11 DOID:3211
MeSH 43 D016464
NCIt 49 C61250
SNOMED-CT 68 23585005
UMLS 71 C0085078

Summaries for Lysosomal Storage Disease

Disease Ontology: 11 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, beta a, lysosomal. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Innate Immune System and Metabolism. The drugs Busulfan and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and t cells, and related phenotypes are nervous system and renal/urinary system

Wikipedia: 75 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of over 70 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 297)
# Related Disease Score Top Affiliating Genes
1 fucosidosis 33.1 SGSH NAGLU MAN2B1 IDUA GLB1 GALNS
2 mannosidosis, beta a, lysosomal 32.9 MAN2B1 HGSNAT FUCA1
3 galactosialidosis 32.9 NEU1 NAGLU MAN2B1 IDUA GLB1 GALNS
4 mucopolysaccharidosis, type vii 32.8 TPP1 SGSH NAGLU IDUA IDS HGSNAT
5 aspartylglucosaminuria 32.8 MAN2B1 IDUA FUCA1 CTSA CTNS CLN3
6 mannosidosis, alpha b, lysosomal 32.8 SGSH NAGLU MAN2B1 IDUA GUSB FUCA1
7 hurler-scheie syndrome 32.7 SGSH NAGLU IDUA IDS GALNS
8 mucopolysaccharidosis, type iiia 32.7 TPP1 SGSH NAGLU IDUA IDS HGSNAT
9 mucopolysaccharidosis, type vi 32.7 SGSH NAGLU IDUA IDS HGSNAT GUSB
10 glycoproteinosis 32.7 NEU1 GLB1 FUCA1 CTSA CLN3
11 hurler syndrome 32.7 SGSH NEU1 NAGLU MAN2B1 IDUA IDS
12 mucopolysaccharidosis, type ii 32.6 TPP1 SGSH NAGLU IDUA IDS HGSNAT
13 mucopolysaccharidosis, type iiic 32.6 SGSH NAGLU IDUA IDS HGSNAT GLB1
14 multiple sulfatase deficiency 32.6 IDS GALNS ARSA
15 mucopolysaccharidosis, type iiid 32.6 SGSH NAGLU IDUA IDS HGSNAT GUSB
16 schindler disease 32.6 MAN2B1 FUCA1
17 scheie syndrome 32.6 TPP1 SGSH NAGLU IDUA IDS HGSNAT
18 mucopolysaccharidosis, type iiib 32.5 TPP1 SGSH NAGLU IDUA IDS HGSNAT
19 mucopolysaccharidosis, type iva 32.5 SGSH NAGLU IDUA IDS HGSNAT GUSB
20 fabry disease 32.5 GUSB GBA1 FUCA1 ARSA AGA
21 mucolipidosis ii alpha/beta 32.4 NEU1 IDUA GUSB FUCA1
22 mucopolysaccharidosis iii 32.4 TPP1 SGSH NAGLU MAN2B1 IDUA IDS
23 krabbe disease 32.4 SGSH NAGLU IDUA IDS GLB1 GBA1
24 gm1-gangliosidosis, type ii 32.4 IDS HEXB GLB1 GALNS CTSA
25 ceroid lipofuscinosis, neuronal, 13 32.4 TPP1 CLN3
26 sandhoff disease 32.4 SGSH NAGLU HEXB HEXA GLB1 GBA1
27 mucolipidosis iii alpha/beta 32.4 NAGLU MAN2B1 GUSB FUCA1
28 gm2-gangliosidosis, ab variant 32.4 NEU1 HEXB HEXA GLB1
29 lipid storage disease 32.4 TPP1 GBA1 CLN3 ARSA
30 ceroid lipofuscinosis, neuronal, 11 32.3 TPP1 CLN3
31 mucopolysaccharidosis, type ivb 32.3 SGSH NAGLU IDUA IDS HGSNAT GUSB
32 mucopolysaccharidosis iv 32.3 SGSH NEU1 NAGLU IDUA IDS HGSNAT
33 tay-sachs disease 32.3 TPP1 SGSH NEU1 NAGLU IDUA HEXB
34 metachromatic leukodystrophy 32.3 TPP1 SGSH NAGLU IDUA IDS HEXB
35 mucopolysaccharidosis-plus syndrome 32.3 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
36 ceroid lipofuscinosis, neuronal, 10 32.2 TPP1 CLN3
37 gangliosidosis 31.3 SGSH NEU1 NAGLU IDUA HEXB HEXA
38 gaucher's disease 31.3 NAGLU IDUA IDS HEXA GUSB GBA1
39 mucopolysaccharidoses 31.3 IDUA IDS GUSB GALNS
40 gm1 gangliosidosis 31.2 SGSH NEU1 NAGLU IDUA IDS HGSNAT
41 niemann-pick disease 31.1 NAGLU IDUA GBA1 CLN3 ARSA
42 mucolipidosis 31.1 NEU1 NAGLU IDUA GLB1 GBA1 GALNS
43 neuronal ceroid lipofuscinosis 31.1 TPP1 SGSH NAGLU IDUA IDS HGSNAT
44 gm2 gangliosidosis 31.1 SGSH NEU1 NAGLU IDUA HEXB HEXA
45 niemann-pick disease, type a 30.8 NAGLU MAN2B1 IDUA HEXA GBA1
46 hydrops fetalis, nonimmune 30.8 NEU1 GUSB CTSA
47 ceroid lipofuscinosis, neuronal, 3 30.8 TPP1 SGSH NAGLU CLN3
48 gaucher disease, type iii 30.7 GBA1 ARSA
49 sphingolipidosis 30.6 SGSH NAGLU IDUA IDS HEXB HEXA
50 angiokeratoma 30.6 NEU1 FUCA1 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

GenomeRNAi Phenotypes related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.14 AGA ARSA CLN3 CTNS CTSA FUCA1
2 no effect GR00402-S-2 10.14 AGA CLN3 CTNS CTSA FUCA1 GUSB

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.5 AGA ARSA CLN3 CTSA FUCA1 GBA1
2 renal/urinary system MP:0005367 10.49 AGA CLN3 CTNS CTSA FUCA1 GALNS
3 homeostasis/metabolism MP:0005376 10.49 AGA ARSA CLN3 CTNS CTSA FUCA1
4 cellular MP:0005384 10.41 AGA ARSA CLN3 CTNS CTSA FUCA1
5 liver/biliary system MP:0005370 10.38 AGA CLN3 CTSA GBA1 GLB1 HEXA
6 behavior/neurological MP:0005386 10.38 AGA ARSA CLN3 CTNS CTSA FUCA1
7 growth/size/body region MP:0005378 10.32 AGA CLN3 CTSA GBA1 GLB1 GUSB
8 immune system MP:0005387 10.18 ARSA CLN3 CTSA GBA1 GLB1 HEXB
9 skeleton MP:0005390 10.17 CTNS GALNS GBA1 GLB1 GUSB HEXA
10 hearing/vestibular/ear MP:0005377 10.15 ARSA FUCA1 GUSB HEXA HEXB IDS
11 limbs/digits/tail MP:0005371 10.13 CTSA GUSB HEXA HEXB HGSNAT IDS
12 muscle MP:0005369 10.09 CTNS HEXB IDS IDUA MAN2B1 NEU1
13 vision/eye MP:0005391 10.07 ARSA CLN3 CTNS CTSA GALNS HEXA
14 craniofacial MP:0005382 10.06 CTSA GUSB HEXA HEXB IDS IDUA
15 hematopoietic system MP:0005397 10 ARSA CLN3 CTSA GBA1 GLB1 GUSB
16 mortality/aging MP:0010768 9.83 AGA CLN3 CTSA GBA1 GLB1 GUSB
17 integument MP:0010771 9.32 AGA CTSA GBA1 GUSB IDS IDUA

Drugs & Therapeutics for Lysosomal Storage Disease

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Busulfan Approved, Investigational Phase 2 55-98-1 2478
2
Melphalan Approved Phase 1 148-82-3 4053 460612
3
Fludarabine Approved Phase 1 75607-67-9, 21679-14-1 30751 657237
4
Alemtuzumab Approved, Investigational Phase 1 216503-57-0
5
Thiotepa Approved, Investigational Phase 1 52-24-4 5453
6
Hydroxyurea Approved Phase 1 127-07-1 3657
7 Alkylating Agents Phase 1
8 Antineoplastic Agents, Alkylating Phase 1
9 Immunosuppressive Agents Phase 1
10 Pharmaceutical Solutions Phase 1
11
Benzocaine Approved, Investigational 1994-09-7, 94-09-7 2337
12
Tannic acid Approved 1401-55-4 16129878 16129778
13
Mycophenolic acid Approved, Investigational 24280-93-1 446541
14
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
15
Clotrimazole Approved, Vet_approved 23593-75-1 2812
16
Clofarabine Approved, Investigational 123318-82-1 119182
17 Antirheumatic Agents
18 Anti-Bacterial Agents
19 Anti-Infective Agents
20 Calcineurin Inhibitors
21 Cyclosporins
22 Antifungal Agents
23 Antimetabolites
24 Antitubercular Agents
25 Antibiotics, Antitubercular
26 Antineoplastic Agents, Immunological
27 Dermatologic Agents
28 Liver Extracts
29 Immunoglobulins
30 Antibodies, Blocking
31 Antibodies

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 A Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral Vector Recruiting NCT03897361 Phase 1, Phase 2
4 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
5 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
6 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
7 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 Active, not recruiting NCT04093349 Phase 1, Phase 2
8 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
9 An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00786968 Phase 1 laronidase
10 A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I Terminated NCT00215527 Phase 1 laronidase
11 Treatment of Early Infantile-Onset Lysosomal Storage Diseases With Fetal Umbilical Cord Blood (UCB) Transplantation Withdrawn NCT01003912 Phase 1
12 Enzymatic and Genotypic Screening of Lysosomal Storage Diseases in Minority Groups Unknown status NCT03812042
13 Investigating Lysosomal Storage Diseases in Minority Groups Unknown status NCT02120235
14 Cellular Pharmacodynamics of Small Molecules in Sanfilippo Disease(s) (MPS3) and Other Lysosomal Storage Disorders Unknown status NCT03812055
15 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
16 A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I Completed NCT00852358 laronidase
17 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
18 The Nosology and Etiology of Leukodystrophies of Unknown Cause Completed NCT00001671
19 Stimulation of the Human Central and Peripheral Nervous System With a Magnetic Stimulator Completed NCT00001780
20 A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease Completed NCT03893240
21 Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease: An International, Multicenter, Epidemiological Protocol Completed NCT02416661
22 A Pilot Study of Diet and Exercise Therapy in Pompe Disease Completed NCT02363153
23 Characterization of the Patient Population With Galactosialidosis Completed NCT01416467
24 Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders Recruiting NCT00046202
25 Registry of Patients Diagnosed With Lysosomal Storage Diseases Recruiting NCT05619900
26 Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases Recruiting NCT02000310
27 A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry Recruiting NCT04393701
28 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
29 Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders Recruiting NCT04399694
30 Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT01458613
31 Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score Enrolling by invitation NCT04943991
32 Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders Enrolling by invitation NCT00001215
33 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
34 Natural History Study of Children With Metachromatic Leukodystrophy Terminated NCT01963650
35 A Natural History Study of Aspartylglucosaminuria Terminated NCT03853876
36 Complement Activation in the Lysosomal Storage Disorders Withdrawn NCT04189601

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

Genetic tests related to Lysosomal Storage Disease:

# Genetic test Affiliating Genes
1 Lysosomal Storage Disease 28

Anatomical Context for Lysosomal Storage Disease

Organs/tissues related to Lysosomal Storage Disease:

MalaCards : Spinal Cord, Bone Marrow, T Cells, Brain, Liver, Bone, Dorsal Root Ganglion

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 5959)
# Title Authors PMID Year
1
Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells. 53 62
20152898 2010
2
Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. 53 62
20410102 2010
3
Mucopolysaccharidosis VI. 53 62
20385007 2010
4
Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines. 53 62
19864504 2010
5
A self-inactivating gamma-retroviral vector reduces manifestations of mucopolysaccharidosis I in mice. 53 62
19844196 2010
6
Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. 53 62
19864416 2009
7
Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). 53 62
19699491 2009
8
Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. 53 62
19632871 2009
9
Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. 53 62
19587708 2009
10
Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. 53 62
19097920 2009
11
Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. 53 62
19568825 2009
12
Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. 53 62
19666471 2009
13
In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. 53 62
19809509 2009
14
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. 53 62
19578116 2009
15
Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. 53 62
19394256 2009
16
Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. 53 62
19213078 2009
17
The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. 53 62
19368525 2009
18
Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. 53 62
19167257 2009
19
Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. 53 62
20225018 2009
20
The endosomal network. 53 62
20040307 2009
21
Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. 53 62
19041749 2008
22
A case of galactosialidosis with a homozygous Q49R point mutation. 53 62
18396002 2008
23
Aptamer-based endocytosis of a lysosomal enzyme. 53 62
18838694 2008
24
Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. 53 62
18613275 2008
25
Autophagic dysfunction in mucolipidosis type IV patients. 53 62
18550655 2008
26
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. 53 62
18486607 2008
27
Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. 53 62
18618289 2008
28
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. 53 62
18502162 2008
29
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. 53 62
18772556 2008
30
Immune response hinders therapy for lysosomal storage diseases. 53 62
18654672 2008
31
Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. 53 62
18479957 2008
32
Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. 53 62
18331837 2008
33
Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. 53 62
18429048 2008
34
Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. 53 62
18509892 2008
35
The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. 53 62
18314010 2008
36
Lysosomes in iron metabolism, ageing and apoptosis. 53 62
18259769 2008
37
Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. 53 62
18339182 2008
38
Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. 53 62
17988215 2008
39
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. 53 62
17672828 2008
40
Human chitotriosidase: a potential new marker of sarcoidosis severity. 53 62
18487875 2008
41
Pompe disease: current state of treatment modalities and animal models. 53 62
17826266 2007
42
Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. 53 62
17924344 2007
43
The role of calcium and other ions in sorting and delivery in the late endocytic pathway. 53 62
17956286 2007
44
[Fabry disease. An interdisciplinary challenge]. 53 62
17940933 2007
45
[Hematological aspects of Gaucher disease]. 53 62
18228684 2007
46
Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. 53 62
17718826 2007
47
Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family. 53 62
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. 53 62
17557860 2007
49
Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. 53 62
17460717 2007
50
Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. 53 62
17033804 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 directly related to Lysosomal Storage Disease:

# Pathway Source
1 Defective NEU1 causes sialidosis Reactome 66

Pathways related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.77 NEU1 MAN2B1 HGSNAT HEXB GUSB GLB1
2
Show member pathways
13.7 ARSA CTSA GALNS GBA1 GLB1 GUSB
3
Show member pathways
13.64 CTSA GALNS GLB1 GUSB HEXA HEXB
4
Show member pathways
12.77 SGSH NAGLU MAN2B1 IDUA IDS HGSNAT
5
Show member pathways
12.22 NEU1 HEXB HEXA GLB1 GBA1 CTSA
6
Show member pathways
12.19 IDUA IDS HEXB HEXA
7
Show member pathways
12.05 SGSH NEU1 NAGLU IDUA IDS HGSNAT
8
Show member pathways
11.75 HEXB HEXA GLB1 GALNS
9
Show member pathways
11.46 GLB1 GUSB HGSNAT IDS IDUA NAGLU
10
Show member pathways
11.29 SGSH NAGLU IDUA IDS HGSNAT GUSB
11 10.87 NEU1 HEXB HEXA GLB1 GBA1

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 extracellular exosome GO:0070062 10.46 ARSA CTNS CTSA FUCA1 GALNS GBA1
2 intracellular membrane-bounded organelle GO:0043231 10.27 CTNS CTSA FUCA1 GLB1 GUSB HEXA
3 lysosome GO:0005764 10.2 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
4 lysosomal membrane GO:0005765 10.13 NEU1 HGSNAT GBA1 CTNS CLN3
5 azurophil granule lumen GO:0035578 10.11 AGA ARSA CTSA FUCA1 GALNS GLB1
6 lysosomal lumen GO:0043202 9.85 ARSA CTSA FUCA1 GALNS GBA1 GLB1
7 azurophil granule GO:0042582 9.71 HEXB HEXA
8 beta-N-acetylhexosaminidase complex GO:1905379 9.62 HEXB HEXA

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 10.18 ARSA FUCA1 GBA1 HEXA HEXB NEU1
2 lysosome organization GO:0007040 10.1 TPP1 NAGLU HEXB HEXA GBA1 CLN3
3 neuromuscular process controlling balance GO:0050885 10.08 TPP1 HEXB HEXA CLN3
4 carbohydrate metabolic process GO:0005975 10.07 NEU1 MAN2B1 IDUA HEXB HEXA GUSB
5 lipid storage GO:0019915 10.01 HEXB HEXA GBA1
6 hyaluronan catabolic process GO:0030214 9.99 HEXB HEXA GUSB
7 oligosaccharide catabolic process GO:0009313 9.97 NEU1 MAN2B1 HEXB
8 ganglioside catabolic process GO:0006689 9.93 NEU1 HEXB HEXA
9 chondroitin sulfate catabolic process GO:0030207 9.91 GUSB HEXB IDUA
10 glycosaminoglycan metabolic process GO:0030203 9.89 HEXB HEXA
11 lysosomal protein catabolic process GO:1905146 9.88 TPP1 CLN3
12 protein deglycosylation GO:0006517 9.86 MAN2B1 AGA
13 dermatan sulfate catabolic process GO:0030209 9.86 HEXA HEXB IDS IDUA
14 maintenance of location in cell GO:0051651 9.85 HEXB HEXA
15 heparan sulfate proteoglycan catabolic process GO:0030200 9.85 SGSH NAGLU IDS HGSNAT GUSB
16 glycosaminoglycan catabolic process GO:0006027 9.8 SGSH NAGLU IDUA IDS GUSB GLB1
17 sexual reproduction GO:0019953 9.76 HEXB HEXA
18 response to pH GO:0009268 9.74 GBA1 ARSA
19 carbohydrate derivative metabolic process GO:1901135 9.58 HEXA HEXB NAGLU
20 metabolic process GO:0008152 9.32 NEU1 NAGLU MAN2B1 IDUA HEXB HEXA

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

# Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 9.8 SGSH IDS GALNS ARSA
2 arylsulfatase activity GO:0004065 9.73 GALNS ARSA
3 sulfatide binding GO:0120146 9.71 TPP1 CLN3
4 beta-N-acetylhexosaminidase activity GO:0004563 9.67 HEXB HEXA
5 hydrolase activity, acting on glycosyl bonds GO:0016798 9.65 NEU1 NAGLU MAN2B1 IDUA HEXB HEXA
6 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.63 GLB1 GUSB HEXA HEXB IDUA
7 N-acetyl-beta-D-galactosaminidase activity GO:0102148 9.62 HEXB HEXA
8 hydrolase activity GO:0016787 9.55 TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA

Sources for Lysosomal Storage Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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