MCID: LYS029
MIFTS: 28

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 gaucher disease, type i and lysosomal storage disease. An important gene associated with Lysosomal Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Lysosome and Other glycan degradation. The drugs polysaccharide-K and Fluorodeoxyglucose F18 have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and heart, and related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and homeostasis/metabolism

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 77)
# Related Disease Score Top Affiliating Genes
1 gaucher disease, type i 29.9 GBA GALC
2 lysosomal storage disease 29.8 GBA GALC AGA
3 sphingolipidosis 29.8 GBA GALC
4 fabry disease 29.6 GBA AGA
5 mucopolysaccharidosis-plus syndrome 29.6 GBA GALC
6 krabbe disease 29.4 GBA GALC
7 lysosomal disease with hypertrophic cardiomyopathy 12.2
8 lysosomal disease with restrictive cardiomyopathy 12.2
9 lysosomal disease with epilepsy 12.2
10 farber lipogranulomatosis 11.3
11 ceroid lipofuscinosis, neuronal, 3 11.0
12 cystinosis, nephropathic 11.0
13 myoclonic epilepsy of unverricht and lundborg 11.0
14 gaucher's disease 10.2
15 mucopolysaccharidoses 10.2
16 gangliosidosis 10.1
17 leukodystrophy 10.1
18 gm1 gangliosidosis 10.1
19 metachromatic leukodystrophy 10.0
20 mucolipidosis 10.0
21 neuronal ceroid lipofuscinosis 10.0
22 mucolipidoses 10.0
23 aspartylglucosaminuria 9.9
24 tay-sachs disease 9.9
25 niemann-pick disease 9.9
26 glycogen storage disease 9.9
27 inherited metabolic disorder 9.9
28 ceroid storage disease 9.9
29 neuraminidase deficiency 9.9
30 sandhoff disease 9.9
31 scheie syndrome 9.9
32 neuronal ceroid-lipofuscinoses 9.9
33 glycoproteinosis 9.9
34 chediak-higashi syndrome 9.8
35 glycogen storage disease ii 9.8
36 mucolipidosis iv 9.8
37 mucopolysaccharidosis, type vii 9.8
38 niemann-pick disease, type c1 9.8
39 phenylketonuria 9.8
40 gm2 gangliosidosis 9.8
41 splenomegaly 9.8
42 endosteal hyperostosis, autosomal dominant 9.6
43 osteoporosis 9.6
44 odontochondrodysplasia 9.6
45 fucosidosis 9.6
46 hydrops fetalis, nonimmune 9.6
47 mucopolysaccharidosis, type iiia 9.6
48 galactosialidosis 9.6
49 niemann-pick disease, type a 9.6
50 pycnodysostosis 9.6

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 ABCA5 AGA CTSK GALC GBA
2 liver/biliary system MP:0005370 8.92 ABCA5 AGA GALC GBA

Drugs & Therapeutics for Lysosomal Disease

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 polysaccharide-K
2 Fluorodeoxyglucose F18
3 Immunoglobulins
4 Antibodies

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 A Clinical Trial of Replagal Enzyme Replacement Therapy in Children Ages 7 - 17 Years With Fabry Disease Completed NCT00071877 Phase 2 Replagal
2 A Phase IIa Study to Investigate Safety, Pharmacokinetics, and Efficacy of Odiparcil in Patients 16 Years and Above With Mucopolysaccharidosis (MPS) Type VI Completed NCT03370653 Phase 2 Odiparcil
3 An Open-Label Maintenance Study of the Enzyme Replacement Therapy Replagal® (Registered Trademark) in Patients With Fabry Disease Completed NCT00357786 Phase 1 Replagal agalsidase alfa;Replagal
4 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
5 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Completed NCT01938014
6 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
7 (18)Fluorodeoxyglucose Positron Emission Tomography in Patients With Fabry Disease Completed NCT00005111
8 A Study to Collect Normative Data in Female Patients With Fabry Disease Completed NCT00030134
9 Carotid Structure and Function in MPS Syndromes: A Multicenter Study of the Lysosomal Disease Network Completed NCT01586871
10 A Multicenter, Multinational Study That Will Evaluate Clinical and Surrogate Parameters Known to be Affected in Alpha-Mannosidosis Patients Completed NCT00498420
11 Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study Completed NCT00055016
12 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
13 A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease Completed NCT00465062
14 Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease Recruiting NCT01665326
15 Natural History of Morquio B and Late-Onset GM1 Gangliosidosis Not yet recruiting NCT04320329

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, Brain, Heart, Bone Marrow, Eye, Cortex, Skeletal Muscle

Publications for Lysosomal Disease

Articles related to Lysosomal Disease:

(show top 50) (show all 179)
# Title Authors PMID Year
1
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
2
Myelin and Lipid Composition of the Corpus Callosum in Mucopolysaccharidosis Type I Mice. 61
32537944 2020
3
A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease. 61
32370284 2020
4
[The long-term follow-up of enzyme replacement treatment in late onset Pompe disease]. 61
32579304 2020
5
Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia. 61
32295832 2020
6
Deep phenotyping of peripheral tissue facilitates mechanistic disease stratification in sporadic Parkinson's disease. 61
32058042 2020
7
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease. 61
32272755 2020
8
Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells. 61
32357547 2020
9
Haematopoietic stem cell gene therapy with IL-1Ra rescues cognitive loss in mucopolysaccharidosis IIIA. 61
32057196 2020
10
Depression, sleep disturbances, pain, disability and quality of LIFE in Brazilian Fabry disease patients. 61
31871893 2020
11
Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria. 61
31415096 2020
12
Mucopolysaccharidosis IVA: Diagnosis, Treatment, and Management. 61
32102177 2020
13
Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview. 61
31711734 2020
14
Assisted reproduction mediated resurrection of a feline model for Chediak-Higashi syndrome caused by a large duplication in LYST. 61
31919397 2020
15
Rare GBA1 genotype associated with severe bone disease in Gaucher disease type 1. 61
31799121 2019
16
Identification of Novel Pathways Associated with Patterned Cerebellar Purkinje Neuron Degeneration in Niemann-Pick Disease, Type C1. 61
31906248 2019
17
Treatment needs and expectations for Fabry disease in France: development of a new Patient Needs Questionnaire. 61
31801581 2019
18
Individual heat map assessments demonstrate vestronidase alfa treatment response in a highly heterogeneous mucopolysaccharidosis VII study population. 61
31497482 2019
19
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. 61
31367523 2019
20
Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation. 61
31361240 2019
21
Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients. 61
32042454 2019
22
The lysosomal disease caused by mutant VPS33A. 61
31070736 2019
23
Podocyturia: why it may have added value in rare diseases. 61
30863545 2019
24
Conversion of Quinazoline Modulators from Inhibitors to Activators of β-Glucocerebrosidase. 61
30645117 2019
25
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. 61
29654542 2019
26
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. 61
30470723 2018
27
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. 61
29979419 2018
28
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum. 61
29516569 2018
29
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. 61
29478819 2018
30
TGF-ß Regulates Cathepsin Activation during Normal and Pathogenic Development. 61
29539424 2018
31
RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system. 61
29198892 2018
32
Parapelvic cysts, a distinguishing feature of renal Fabry disease. 61
28371803 2018
33
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency. 61
29374495 2018
34
Hunter Syndrome Diagnosed by Otorhinolaryngologist. 61
29862106 2018
35
EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB. 61
29348482 2018
36
Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. 61
29806776 2018
37
Cystinosis distal myopathy, novel clinical, pathological and genetic features. 61
28629674 2017
38
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. 61
28610891 2017
39
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. 61
28814660 2017
40
A Basic ApoE-Based Peptide Mediator to Deliver Proteins across the Blood-Brain Barrier: Long-Term Efficacy, Toxicity, and Mechanism. 61
28456380 2017
41
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. 61
27858370 2017
42
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease. 61
27637292 2016
43
eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease. 61
27813552 2016
44
Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I. 61
27556013 2016
45
Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. 61
27493997 2016
46
Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial. 61
27289174 2016
47
Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman. 61
27928380 2016
48
Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion. 61
26766614 2016
49
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. 61
27790078 2016
50
[Psychological distress of children with progressive diseases and multiple disabilities: A crossed analysis]. 61
26233804 2015

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 11.03 GBA GALC CTSK AGA
2 10.21 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 lumen GO:0043202 9.13 GBA GALC CTSK
2 lysosome GO:0005764 9.02 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 metabolic process GO:0008152 9.16 GBA GALC
2 sphingolipid metabolic process GO:0006665 8.96 GBA GALC
3 glycosphingolipid metabolic process GO:0006687 8.62 GBA GALC

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity, acting on glycosyl bonds GO:0016798 8.96 GBA GALC
2 hydrolase activity GO:0016787 8.92 GBA GALC CTSK AGA

Sources for Lysosomal Disease

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
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