MCID: LYS029
MIFTS: 30

Lysosomal Disease

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Lysosomal Disease

MalaCards integrated aliases for Lysosomal Disease:

Name: Lysosomal Disease 58

Classifications:

Orphanet: 58  
Inborn errors of metabolism


External Ids:

Orphanet 58 ORPHA68366

Summaries for Lysosomal Disease

MalaCards based summary : Lysosomal Disease is related to angiokeratoma and sphingolipidosis. An important gene associated with Lysosomal Disease is CTSK (Cathepsin K), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. The drugs Prednisone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and eye, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

Related Diseases for Lysosomal Disease

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 angiokeratoma 29.6 NEU1 AGA
2 sphingolipidosis 29.4 GBA GALC
3 niemann-pick disease, type a 29.2 GBA GALC
4 niemann-pick disease 29.2 GBA GALC
5 mucopolysaccharidosis-plus syndrome 29.2 NEU1 GBA GALC
6 krabbe disease 29.2 GBA GALC
7 lysosomal storage disease 29.2 NEU1 GBA GALC AGA
8 fabry disease 29.1 GBA AGA
9 gaucher's disease 29.0 GBA GALC
10 lysosomal disease with hypertrophic cardiomyopathy 11.0
11 lysosomal disease with restrictive cardiomyopathy 11.0
12 lysosomal disease with epilepsy 11.0
13 ceroid lipofuscinosis, neuronal, 3 10.8
14 leukodystrophy 10.0
15 mucopolysaccharidoses 10.0
16 gm1 gangliosidosis 9.9 NEU1 GALC
17 aspartylglucosaminuria 9.9
18 mucopolysaccharidosis iv 9.8 GBA GALC
19 mucopolysaccharidosis, type vi 9.8 GBA GALC
20 mucopolysaccharidosis, type ii 9.8 GBA GALC
21 gm2 gangliosidosis 9.8 NEU1 GBA
22 scheie syndrome 9.7 GBA GALC
23 osteoporosis 9.7
24 odontochondrodysplasia 9.7
25 chediak-higashi syndrome 9.7
26 mucopolysaccharidosis, type iiia 9.7
27 mucopolysaccharidosis, type vii 9.7
28 niemann-pick disease, type c1 9.7
29 pycnodysostosis 9.7
30 ataxia and polyneuropathy, adult-onset 9.7
31 alacrima, achalasia, and mental retardation syndrome 9.7
32 neuronal ceroid-lipofuscinoses 9.7
33 thrombosis 9.7
34 bone resorption disease 9.7
35 x-linked recessive disease 9.7
36 otosclerosis 9.7
37 dilated cardiomyopathy 9.7
38 neuronal ceroid lipofuscinosis 9.7
39 glycogen storage disease 9.7
40 glycoproteinosis 9.7
41 myopathy 9.7
42 inherited metabolic disorder 9.7
43 periodontitis 9.7
44 arthritis 9.7
45 exophthalmos 9.7
46 clcn7-related osteopetrosis 9.7
47 dwarfism 9.7
48 gangliosidosis 9.7
49 splenomegaly 9.7
50 myoclonus 9.7

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



Diseases related to Lysosomal Disease

Symptoms & Phenotypes for Lysosomal Disease

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 8.92 ABCA5 AGA CTSK GALC

MGI Mouse Phenotypes related to Lysosomal Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.8 ABCA5 AGA CTSK GALC GBA NEU1
2 cellular MP:0005384 9.65 AGA CTSK GALC GBA NEU1
3 homeostasis/metabolism MP:0005376 9.63 ABCA5 AGA CTSK GALC GBA NEU1
4 liver/biliary system MP:0005370 9.35 ABCA5 AGA GALC GBA NEU1
5 nervous system MP:0003631 9.02 AGA CTSK GALC GBA NEU1

Drugs & Therapeutics for Lysosomal Disease

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

(show all 37)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 1, Phase 2 53-03-2 5865
2 Prednisolone acetate Approved, Vet_approved Phase 1, Phase 2 52-21-1
3
Prednisolone Approved, Vet_approved Phase 1, Phase 2 50-24-8 5755
4
Methylprednisolone hemisuccinate Approved Phase 1, Phase 2 2921-57-5
5
Lidocaine Approved, Vet_approved Phase 1, Phase 2 137-58-6 3676
6
Methylprednisolone Approved, Vet_approved Phase 1, Phase 2 83-43-2 6741
7
Prednisolone phosphate Approved, Vet_approved Phase 1, Phase 2 302-25-0
8
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
9
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030
10
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
11
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
12
Chlorhexidine Approved, Vet_approved Phase 1, Phase 2 55-56-1 9552079 2713
13
Prednisolone hemisuccinate Experimental Phase 1, Phase 2 2920-86-7
14 Protective Agents Phase 1, Phase 2
15 Immunosuppressive Agents Phase 1, Phase 2
16 Antifungal Agents Phase 1, Phase 2
17 Antineoplastic Agents, Immunological Phase 1, Phase 2
18 Gastrointestinal Agents Phase 1, Phase 2
19 Antibiotics, Antitubercular Phase 1, Phase 2
20 Pharmaceutical Solutions Phase 1, Phase 2
21 Hormones Phase 1, Phase 2
22 Anti-Inflammatory Agents Phase 1, Phase 2
23 Anesthetics Phase 1, Phase 2
24 Hormone Antagonists Phase 1, Phase 2
25 Methylprednisolone Acetate Phase 1, Phase 2
26 Anti-Infective Agents Phase 1, Phase 2
27 Immunologic Factors Phase 1, Phase 2
28 Neuroprotective Agents Phase 1, Phase 2
29 Antirheumatic Agents Phase 1, Phase 2
30 glucocorticoids Phase 1, Phase 2
31 Anesthetics, Local Phase 1, Phase 2
32 Immunoglobulins Phase 1, Phase 2
33 Anti-Bacterial Agents Phase 1, Phase 2
34 Chlorhexidine gluconate Phase 1, Phase 2
35 Antibodies Phase 1, Phase 2
36 Antineoplastic Agents, Hormonal Phase 1, Phase 2
37 Antiemetics Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 1/2 Study of Intravenous Gene Transfer With an AAV9 Vector Expressing Human Beta-galactosidase in Type I and Type II GM1 Gangliosidosis Recruiting NCT03952637 Phase 1, Phase 2 Rituximab;Sirolimus;Methylprednisolone;Prednisone
2 Longitudinal Study of Bone and Endocrine Disease in Children With MPS I, II, and VI: A Multicenter Study of the Lysosomal Disease Network. Completed NCT01521429
3 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871

Search NIH Clinical Center for Lysosomal Disease

Genetic Tests for Lysosomal Disease

Anatomical Context for Lysosomal Disease

MalaCards organs/tissues related to Lysosomal Disease:

40
Bone, Bone Marrow, Eye, Cortex, Myeloid, Nk Cells

Publications for Lysosomal Disease

Articles related to Lysosomal Disease:

(show top 50) (show all 193)
# Title Authors PMID Year
1
Dysostosis in mucopolysaccharidosis type 2: A case of longitudinal follow up and literature review. 61
33488893 2021
2
Using Bibliometric Analysis and Machine Learning to Identify Compounds Binding to Sialidase-1. 61
33553934 2021
3
Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement. 61
33572941 2021
4
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis. 61
33308164 2020
5
Cerliponase alfa changes the natural history of children with neuronal ceroid lipofuscinosis type 2: The first French cohort. 61
33348105 2020
6
Decrease in Myelin-Associated Lipids Precedes Neuronal Loss and Glial Activation in the CNS of the Sandhoff Mouse as Determined by Metabolomics. 61
33396723 2020
7
High diagnostic value of plasma Niemann-Pick type C biomarkers in adults with selected neurological and/or psychiatric disorders. 61
32592146 2020
8
Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice. 61
32537944 2020
9
Site-specific modifications to AAV8 capsid yields enhanced brain transduction in the neonatal MPS IIIB mouse. 61
33244179 2020
10
Misfolding of Lysosomal α-Galactosidase a in a Fly Model and Its Alleviation by the Pharmacological Chaperone Migalastat. 61
33036426 2020
11
Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report. 61
32791958 2020
12
Early evidence of delayed oligodendrocyte maturation in the mouse model of mucolipidosis type IV. 61
32586947 2020
13
Single Cell Transcriptome Analysis of Niemann-Pick Disease, Type C1 Cerebella. 61
32731618 2020
14
Pharmacokinetics and pharmacodynamics of JR-051, a biosimilar of agalsidase beta, in healthy adults and patients with Fabry disease: Phase I and II/III clinical studies. 61
32389574 2020
15
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease. 61
32370284 2020
16
[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]. 61
32579304 2020
17
Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia. 61
32295832 2020
18
Deep phenotyping of peripheral tissue facilitates mechanistic disease stratification in sporadic Parkinson's disease. 61
32058042 2020
19
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease. 61
32272755 2020
20
Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells. 61
32357547 2020
21
Haematopoietic stem cell gene therapy with IL-1Ra rescues cognitive loss in mucopolysaccharidosis IIIA. 61
32057196 2020
22
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients. 61
31871893 2020
23
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria. 61
31415096 2020
24
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. 61
32102177 2020
25
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. 61
31711734 2020
26
Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. 61
31919397 2020
27
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. 61
31801581 2019
28
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1. 61
31906248 2019
29
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1. 61
31799121 2019
30
[Treatment of tibia fracture with LCP plate in picnodisostosis]. 61
32767886 2019
31
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. 61
31367523 2019
32
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. 61
31497482 2019
33
The lysosomal disease caused by mutant VPS33A. 61
31070736 2019
34
Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation. 61
31361240 2019
35
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients. 61
32042454 2019
36
Podocyturia: why it may have added value in rare diseases. 61
30863545 2019
37
Conversion of Quinazoline Modulators from Inhibitors to Activators of β-Glucocerebrosidase. 61
30645117 2019
38
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. 61
29654542 2019
39
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. 61
30470723 2018
40
Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come? 61
33072944 2018
41
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum. 61
29516569 2018
42
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. 61
29979419 2018
43
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. 61
29478819 2018
44
TGF-ß Regulates Cathepsin Activation during Normal and Pathogenic Development. 61
29539424 2018
45
RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system. 61
29198892 2018
46
Parapelvic cysts, a distinguishing feature of renal Fabry disease. 61
28371803 2018
47
Hunter Syndrome Diagnosed by Otorhinolaryngologist. 61
29862106 2018
48
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency. 61
29374495 2018
49
EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB. 61
29348482 2018
50
Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. 61
29806776 2018

Variations for Lysosomal Disease

Expression for Lysosomal Disease

Search GEO for disease gene expression data for Lysosomal Disease.

Pathways for Lysosomal Disease

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 NEU1 GBA GALC
2 11.13 NEU1 GBA GALC CTSK AGA
3 10.39 NEU1 GBA AGA

GO Terms for Lysosomal Disease

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

# Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.33 NEU1 GBA ABCA5
2 lysosomal lumen GO:0043202 9.26 NEU1 GBA GALC CTSK
3 lysosome GO:0005764 9.1 NEU1 GBA GALC CTSK AGA ABCA5

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

# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.43 NEU1 GBA GALC
2 lipid catabolic process GO:0016042 9.32 NEU1 GALC
3 sphingolipid metabolic process GO:0006665 9.16 GBA GALC
4 metabolic process GO:0008152 9.13 NEU1 GBA GALC
5 glycosphingolipid metabolic process GO:0006687 8.8 NEU1 GBA GALC

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.35 NEU1 GBA GALC CTSK AGA
2 hydrolase activity, acting on glycosyl bonds GO:0016798 8.8 NEU1 GBA GALC

Sources for Lysosomal Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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