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 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

Orphanet 59 ORPHA68366

Summaries for Lysosomal Disease

MalaCards based summary : Lysosomal Disease is related to lysosomal storage disease and sphingolipidosis. An important gene associated with Lysosomal Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Sphingolipid metabolism and Lysosome. 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 75)
# Related Disease Score Top Affiliating Genes
1 lysosomal storage disease 29.4 GBA GALC AGA
2 sphingolipidosis 29.4 GBA GALC
3 lysosomal disease with hypertrophic cardiomyopathy 12.2
4 lysosomal disease with restrictive cardiomyopathy 12.2
5 lysosomal disease with epilepsy 12.2
6 farber lipogranulomatosis 11.3
7 pycnodysostosis 11.3
8 ceroid lipofuscinosis, neuronal, 3 11.0
9 cystinosis, nephropathic 11.0
10 myoclonic epilepsy of unverricht and lundborg 11.0
11 gaucher's disease 10.2
12 gaucher disease, type i 10.2
13 mucopolysaccharidoses 10.1
14 mucopolysaccharidosis-plus syndrome 10.1
15 gangliosidosis 10.1
16 leukodystrophy 10.1
17 gm1 gangliosidosis 10.1
18 fabry disease 10.0
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 glycogen storage disease 9.9
26 sandhoff disease 9.9
27 scheie syndrome 9.9
28 neuronal ceroid-lipofuscinoses 9.9
29 inherited metabolic disorder 9.9
30 chediak-higashi syndrome 9.8
31 glycogen storage disease ii 9.8
32 krabbe disease 9.8
33 mucolipidosis iv 9.8
34 neuraminidase deficiency 9.8
35 niemann-pick disease 9.8
36 gm2 gangliosidosis 9.8
37 glycoproteinosis 9.8
38 hematopoietic stem cell transplantation 9.8
39 lipid storage disease 9.8 GBA GALC
40 endosteal hyperostosis, autosomal dominant 9.6
41 osteoporosis 9.6
42 odontochondrodysplasia 9.6
43 fucosidosis 9.6
44 mucopolysaccharidosis, type iiia 9.6
45 mucopolysaccharidosis, type vii 9.6
46 galactosialidosis 9.6
47 ceroid lipofuscinosis, neuronal, 1 9.6
48 niemann-pick disease, type c1 9.6
49 phenylketonuria 9.6
50 danon disease 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:

46
# 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 Antibodies
4 Immunoglobulins

Interventional clinical trials:

(show all 14)
# 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 Recruiting 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 Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children Unknown status NCT01938014
5 Longitudinal Studies of the Glycoproteinoses Unknown status NCT01891422
6 Longitudinal Study of Cognition With Niemann-Pick Disease, Type C Completed NCT01899950
7 A Study to Collect Normative Data in Female Patients With Fabry Disease Completed NCT00030134
8 (18)Fluorodeoxyglucose Positron Emission Tomography in Patients With Fabry Disease Completed NCT00005111
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 A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher Disease Completed NCT00465062
12 Registry of Fabry Disease: A Multicenter, Longitudinal Observational Study Completed NCT00055016
13 Determination of Cross-Reactive Immunological Material (CRIM) Status and Longitudinal Follow-up of Individuals With Pompe Disease Recruiting NCT01665326
14 Longitudinal Study of Bone and Endocrine Disease in Children With MPS I, II, and VI: A Multicenter Study of the Lysosomal Disease Network. Active, not recruiting NCT01521429

Search NIH Clinical Center for Lysosomal Disease

Genetic Tests for Lysosomal Disease

Anatomical Context for Lysosomal Disease

MalaCards organs/tissues related to Lysosomal Disease:

41
Bone, Brain, Heart, Bone Marrow, Eye, Skeletal Muscle, Cortex

Publications for Lysosomal Disease

Articles related to Lysosomal Disease:

(show top 50) (show all 161)
# Title Authors PMID Year
1
Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling. 38
31367523 2019
2
Detailed Profile of Cognitive Dysfunction in Children with Aspartylglucosaminuria. 38
31415096 2019
3
Nephropathic cystinosis presenting with uveitis: Report of a "Can't See, Can't Pee" situation. 38
31361240 2019
4
The lysosomal disease caused by mutant VPS33A. 38
31070736 2019
5
Podocyturia: why it may have added value in rare diseases. 38
30863545 2019
6
Conversion of Quinazoline Modulators from Inhibitors to Activators of β-Glucocerebrosidase. 38
30645117 2019
7
Pentosan Polysulfate Treatment of Mucopolysaccharidosis Type IIIA Mice. 38
29654542 2019
8
Diagnosis of Attenuated Mucopolysaccharidosis VI: Clinical, Biochemical, and Genetic Pitfalls. 38
30470723 2018
9
A novel mutation causing type 1 Gaucher disease found in a Japanese patient with gastric cancer: A case report. 38
29979419 2018
10
A HILIC-MS/MS method for simultaneous quantification of the lysosomal disease markers galactosylsphingosine and glucosylsphingosine in mouse serum. 38
29516569 2018
11
A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease. 38
29478819 2018
12
TGF-ß Regulates Cathepsin Activation during Normal and Pathogenic Development. 38
29539424 2018
13
RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system. 38
29198892 2018
14
Parapelvic cysts, a distinguishing feature of renal Fabry disease. 38
28371803 2018
15
Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency. 38
29374495 2018
16
Hunter Syndrome Diagnosed by Otorhinolaryngologist. 38
29862106 2018
17
EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB. 38
29348482 2018
18
Defective autophagy degradation and abnormal tight junction-associated signaling drive epithelial dysfunction in cystinosis. 38
29806776 2018
19
N-butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV. 38
28610891 2017
20
Cystinosis distal myopathy, novel clinical, pathological and genetic features. 38
28629674 2017
21
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease. 38
28814660 2017
22
A Basic ApoE-Based Peptide Mediator to Deliver Proteins across the Blood-Brain Barrier: Long-Term Efficacy, Toxicity, and Mechanism. 38
28456380 2017
23
Intracranial Hypertension in Cystinosis Is a Challenge: Experience in a Children's Hospital. 38
27858370 2017
24
SWORD: A simplified desensitization protocol for enzyme replacement therapy in adult Pompe disease. 38
27637292 2016
25
eNOS gene Glu298Asp and 4b/a polymorphisms are associated with renal function parameters in Mexican patients with Fabry disease. 38
27813552 2016
26
Elements of lentiviral vector design toward gene therapy for treating mucopolysaccharidosis I. 38
27556013 2016
27
Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses. 38
27493997 2016
28
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. 38
27289174 2016
29
Facial Dystonia with Facial Grimacing and Vertical Gaze Palsy with "Round the Houses" Sign in a 29-Year-Old Woman. 38
27928380 2016
30
Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion. 38
26766614 2016
31
Imiglucerase in the management of Gaucher disease type 1: an evidence-based review of its place in therapy. 38
27790078 2016
32
[Psychological distress of children with progressive diseases and multiple disabilities: A crossed analysis]. 38
26233804 2015
33
Health-Related Quality of Life in Patients with MPS II. 38
25395377 2015
34
Adult-onset painful axonal polyneuropathy caused by a dominant NAGLU mutation. 38
25818867 2015
35
Gaucher-related synucleinopathies: the examination of sporadic neurodegeneration from a rare (disease) angle. 38
25573151 2015
36
Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency. 38
25624737 2015
37
The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure. 38
26147524 2015
38
Lysosome dysfunction in the pathogenesis of kidney diseases. 38
24217784 2014
39
Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins. 38
24925315 2014
40
Development of targeted therapies for Parkinson's disease and related synucleinopathies. 38
24668939 2014
41
Loss of PIKfyve in platelets causes a lysosomal disease leading to inflammation and thrombosis in mice. 38
25178411 2014
42
Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. 38
25200117 2014
43
Arylsulphatase A activity in familial parkinsonism: a pathogenetic role? 38
24989669 2014
44
MPS II: adaptive behavior of patients and impact on the family system. 38
24190099 2014
45
Neurocognitive and neuropsychiatric phenotypes associated with the mutation L238Q of the α-L-iduronidase gene in Hurler-Scheie syndrome. 38
24368159 2014
46
Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease. 38
24094551 2014
47
Lysosomal Disease Network's WORLD Symposium™ 2014. 38
24440465 2014
48
Clinical and genetic characteristics of mexican patients with juvenile presentation of niemann-pick type C disease. 38
25349751 2014
49
Glucosylceramide mimics: highly potent GCase inhibitors and selective pharmacological chaperones for mutations associated with types 1 and 2 Gaucher disease. 38
24115322 2013
50
Chaperone-mediated gene therapy with recombinant AAV-PPCA in a new mouse model of type I sialidosis. 38
23770387 2013

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
11.56 GBA GALC
2 11.01 GBA GALC CTSK AGA
3 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 8.96 GBA GALC
2 sphingolipid metabolic process GO:0006665 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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