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MCID: LYS002

Lysosomal Storage Disease malady
20 genes, 2 tissues, 52 related diseases, clinical trials.

Summaries for Lysosomal Storage Disease

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8Disease Ontology, 59Wikipedia, 29MalaCards
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Disease Ontology:8 An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

MalaCards: Lysosomal Storage Disease, also known as lysosomal storage diseases, is related to mucopolysaccharidosis vii and gaucher's disease. An important gene associated with Lysosomal Storage Disease is AGA (aspartylglucosaminidase), and among its related pathways are DSPGs are secreted and Other glycan degradation. The compounds 1-deoxynojirimycin and ppca have been mentioned in the context of this disorder. Affiliated tissues include brain, brain and t cells, and related mouse phenotypes are liver/biliary system and integument.

Wikipedia:59 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited... more...

Aliases & Classifications for Lysosomal Storage Disease

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8Disease Ontology, 10DISEASES, 20Genetics Home Reference, 41Novoseek, 56UMLS, 52SNOMED-CT, 36NCIt, 31MeSH
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Aliases & Descriptions:

lysosomal storage disease 8 10
lysosomal storage diseases 20 41 56
lysosomal storage metabolism disorder 8
inborn lysosomal enzyme disorder 8
disorder of lysosomal enzyme 8



External Ids:

Disease Ontology8 DOID:3211
SNOMED-CT52 23585005

Related Diseases for Lysosomal Storage Disease

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16GeneCards, 17GeneDecks
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Diseases related to lysosomal storage disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 52)
idRelated DiseaseScoreTop Affiliating Genes
1mucopolysaccharidosis vii32.6GUSB
2gaucher's disease31.9GBA
3mucopolysaccharidosis31.3ARSA, ARSH, IDS, IDUA, SGSH, GUSB
4beta-mannosidosis30.5MANBA
5fucosidosis30.4NAGA, FUCA1
6mucopolysaccharidosis ii30.4IDS
7hydrops fetalis30.3GBA, NEU1, GUSB
8galactosialidosis30.2CTSA
9fabry disease30.0FUCA1, GUSB, M6PR, NAGA, ARSA, GBA
10metachromatic leukodystrophy30.0ARSA, ARSH
11acid sphingomyelinase deficiency29.8SMPD1
12mucolipidosis13.8MCOLN1
13colon cancer13.8NEU1
14gangliosidosis13.7ARSA, NEU1
15dysostosis13.7ARSA
16mucopolysaccharidosis i13.7IDUA, ARSH
17angiokeratoma13.7FUCA1, NAGA, MANBA
18mucopolysaccharidosis vi13.6ARSH, ARSA
19mucopolysaccharidisis type iiia13.6ARSH, SGSH
20mucolipidosis iii gamma13.6GUSB, FUCA1
21sialidosis, type ii13.6CTSA, NAGA, NEU1
22mucopolysaccharidosis iii13.6SGSH, M6PR, ARSH
23mucosulfatidosis13.6ARSA, ARSH
24mucopolysaccharidosis iv13.6CTSA, GUSB, NEU1, ARSH
25gangliosidosis gm113.5NEU1, ARSA
26thrombocytopenia13.5GBA, IDUA, GUSB
27sphingolipidosis13.5ARSA, GBA
28retinal degeneration13.5MCOLN1, ARSH, CLN3
29niemann–pick disease13.5SMPD1, M6PR
30mucolipidosis ii13.4SMPD1, FUCA1, GUSB, M6PR, NEU1, ARSH
31mental retardation13.4GUSB, IDUA, IDS, AGA
32ichthyosis13.4ARSH
33glycogen storage disease ii13.4M6PR, IDUA
34bilirubin metabolic disorder13.4SMPD1, CTSA, NEU1, IDUA, AGA, ARSA
35alcoholism13.3ARSA, NEU1
36leukodystrophy13.1ARSH
37aspartylglucosaminuria8.0
38neuronitis7.5
39danon disease6.6
40alpha-mannosidosis6.6
41batten disease6.6
42cystinosis6.6
43pycnodysostosis6.6
44pick's disease6.6
45cholesterol ester storage disease6.6
46niemann-pick disease6.6
47lipid storage disease6.6
48neuronal ceroid-lipofuscinoses6.6
49glycoproteinosis6.6
50infantile free sialic acid storage disease6.6

Graphical network of the top 20 diseases related to lysosomal storage disease:



Diseases related to lysosomal storage disease

Symptoms for Lysosomal Storage Disease

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Drugs & Therapeutics for Lysosomal Storage Disease

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Sources:
5CenterWatch, 38NIH Clinical Center, 6ClinicalTrials, 28LifeMap Discovery™, 56UMLS, 37NDF-RT
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Approved drugs:

Search CenterWatch for lysosomal storage disease

Drug clinical trials:

Search ClinicalTrials for lysosomal storage disease

Search NIH Clinical Center for lysosomal storage disease

Search CenterWatch for lysosomal storage disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Stem-Cell-Based therapeutic approaches for lysosomal storage disease:
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), PMID: 17882722

Genetic Tests for Lysosomal Storage Disease

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Anatomical Context for Lysosomal Storage Disease

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29MalaCards
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MalaCards organs/tissues related to lysosomal storage disease:

29
Brain, T cells

Animal Models for Lysosomal Storage Disease or affiliated genes

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33MGI, 26inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to lysosomal storage disease:

33 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1
liver/biliary system phenotype
MP:000537010.1GBA, CLN3, IDUA, NEU1, MANBA, CTSA
2
integument phenotype
MP:001077110.0AGA, NEU1, IDUA, SGSH, CTSA, GBA
3
skeleton phenotype
MP:00053909.9M6PR, SGSH, CTNS, GUSB, NEU1, IDUA
4
renal/urinary system phenotype
MP:00053679.9SGSH, CLN3, AGA, IDUA, NEU1, MCOLN1
5
nervous system phenotype
MP:00036319.8AGA, MANBA, SGSH, SMPD1, GBA, MCOLN1
6
hematopoietic system phenotype
MP:00053979.7ARSA, GBA, SGSH, NEU1, IDUA, MANBA
7
cellular phenotype
MP:00053849.7AGA, IDUA, CTNS, CTSA, SMPD1, GUSB
8
immune system phenotype
MP:00053879.7SMPD1, SGSH, MANBA, CTSA, MCOLN1, NEU1
9
growth/size phenotype
MP:00053789.7GBA, IDS, SMPD1, GUSB, MCOLN1, CTSA
10
mortality/aging
MP:00107689.7IDS, IDUA, NEU1, SGSH, SMPD1, GUSB
11
homeostasis/metabolism phenotype
MP:00053769.7GBA, CTNS, CLN3, ARSA, AGA, IDUA
12
vision/eye phenotype
MP:00053919.6NEU1, CLN3, IDUA, CTNS, SGSH, IDS
13
behavior/neurological phenotype
MP:00053869.6GBA, SGSH, SMPD1, CTSA, CTNS, GUSB

Publications for Lysosomal Storage Disease

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47PubMed
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Articles related to lysosomal storage disease:

(show all 32)
idTitleAuthorsYearAffiliating Genes
1Biotherapeutic target or sink: analysis of the macrop hage mannose receptor tissue distribution in murine models of lysosomal storage diseases. (21416197)Zhang X.S.... Piepenhagen P.A.2011MRC1
2Mass spectrometry-based protein profiling to determin e the cause of lysosomal storage diseases of unknown etiology. (19383612)Sleat D.E.... Lobel P.2009CLN5
3Immune response hinders therapy for lysosomal storage diseases. (18654672)Ponder K.P.2008IDUA
4Lysosomal storage diseases and the blood-brain barrier. (18673198)Begley D.J.... Scarpa M.2008M6PR
5Non-inhibitory antibodies impede lysosomal storage re duction during enzyme replacement therapy of a lysosomal storage disease. (18360747)Matzner U.... Gieselmann V.2008ARSA
6Topology and endoplasmic reticulum retention signals of the lysosomal storage disease-related membrane protein CLN6. (17453415)Heine C.... Braulke T.2007CLN6
7Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. (16950870)Poet M.... Jentsch T.J.2006CLCN6
8Functional correction of CNS phenotypes in a lysosomal storage disease model using adeno-associated virus type 4 vectors. (16221840)Liu G.... Davidson B.L.2005GUSB
9Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. (15706348)Kasper D.... Jentsch T.J.2005CLCN7
10Widespread gene transduction to the central nervous system by adenovirus in utero: implication for prenatal gene therapy to brain involvement of lysosomal storage disease. (15459963)Shen J.S.... Eto Y.2004GUSB
11Human CD34+ hematopoietic progenitor cell-directed lentiviral-mediated gene therapy in a xenotransplantation model of lysosomal storage disease. (15194052)Hofling A.A.... Sands M.S.2004GUSB
12Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. (15542394)Ramsay S.L.... Meikle P.J.2004PSAP, ARSH
13CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. (15265688)Mole S.E.... Cutler D.F.2004CLN6
14Engraftment of human CD34+ cells leads to widespread distribution of donor-derived cells and correction of tissue pathology in a novel murine xenotransplantation model of lysosomal storage disease. (12406886)Hofling A.A.... Sands M.S.2003GUSB
15Biodistribution and efficacy of donor T lymphocytes in a murine model of lysosomal storage disease. (12573618)Young P.P.... Sands M.S.2003GUSB
16Abnormal osteoclast morphology and bone remodeling in a murine model of a lysosomal storage disease. (11856642)Monroy M.A.... Sands M.S.2002GUSB
17Efficacy of gene therapy for a prototypical lysosomal storage disease (GSD-II) is critically dependent on vector dose, transgene promoter, and the tissues targeted for vector transduction. (11945071)Ding E.... Amalfitano A.2002GAA
18Non-viral, integrin-mediated gene transfer into fibroblasts from patients with lysosomal storage diseases. (11601762)Estruch E.J.... Winchester B.G.2001FUCA1
19Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. (11044913)Ross C.J.... Chang P.L.2000GUSB
20Gene therapy/cell therapy for lysosomal storage disease. (10863945)Eto Y.... Ohashi T.2000GUSB
21The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (10407785)Bennett M.J.... Hofmann S.L.1999PPT1, CLN3, CLN5
22A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). (8817337)Raben N.... Plotz P.H.1996SV2A
23Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)Otterbach B.... Stoffel W.1995SMPD1
24Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. (7548272)Enomaa N.... Jalanko A.1995AGA
25Medicinal therapy for lysosomal storage diseases (8577061)Sakuragawa N.1995SMPD1
26Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. (8312372)Maatta A.... Penttinen R.P.1994AGA
27Behavioural abnormalities in a murine model of a human lysosomal storage disease. (8513128)Chang P.L.... Pisa M.A.1993GUSB
28Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. (1348043)Leinekugel P.... Sandhoff K.1992ARSA
29Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. (1799421)Bonduelle M.... Liebaers I.1991GUSB
30Lysosomal storage diseases. (1883197)Neufeld E.F.1991IDUA
31Diagnosis of lysosomal storage diseases. Pathomorphologic and biochemical possibilities (2122616)August C.H.... Zschiesche M.1990HEXA
32A method for the rapid detection of urinary glycopept ides in alpha-N-acetylgalactosaminidase deficiency and other lysosomal storage diseases. (2208741)Schindler D.... Desnick R.J.1990NAGA

Variations for Lysosomal Storage Disease

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Expression for genes affiliated with Lysosomal Storage Disease

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Lysosomal Storage Disease

Pathways for genes affiliated with Lysosomal Storage Disease

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50Reactome, 27KEGG
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Pathways related to lysosomal storage disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
DSPGs are secreted50
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10.3IDS, IDUA
2
Other glycan degradation27
10.2FUCA1, MANBA, NEU1, AGA, GBA
3
Glycosaminoglycan degradation27
10.1IDS, IDUA, HGSNAT, GUSB, SGSH
4
MPS IIIC - Sanfilippo syndrome C50
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10.1SGSH, GUSB, HGSNAT, IDUA, IDS
5
HS-GAGs translocate to the lysosome for degradation50
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10.1SGSH, GUSB, HGSNAT, IDUA, IDS
6
Sphingolipid metabolism50
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10.0SMPD1, CTSA, NEU1, ARSA, ARSH, GBA
7
Metabolism50
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9.5SGSH, SLC44A4, SMPD1, CTSA, GUSB, HGSNAT
8
Lysosome27
9.1GBA, SGSH, SMPD1, CTSA, CTNS, FUCA1

Compounds for genes affiliated with Lysosomal Storage Disease

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41Novoseek, 55Tocris Bioscience, 11DrugBank, 22HMDB, 46PharmGKB
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Compounds related to lysosomal storage disease according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
11-deoxynojirimycin41 55 1112.7FUCA1, GBA, NEU1
2ppca4110.7CTSA, NEU1
3p-nitrocatechol sulfate4110.6ARSA, ARSH
4dermatan41 2211.6IDUA, IDS, GUSB
5formylglycine4110.6ARSA, ARSH
6gal(beta1-3)galnac4110.6NAGA
7n-acetylgalactosamine 6-sulfate4110.6ARSH, ARSA
8sulfatide4110.6NEU1, ARSH, ARSA
9p-cresol4110.6GUSB, ARSH
10percoll4110.6FUCA1, M6PR, GBA
11mucopolysaccharide4110.5ARSA, ARSH, IDS, IDUA
12glycolipid4110.5NAGA, NEU1, GBA
13asparagine4110.5ARSA, M6PR, AGA, GBA
14n-acetylglucosamine4110.5ARSA, AGA, FUCA1, NEU1, NAGA
15ganglioside4110.5IDUA, ARSA, SMPD1, FUCA1, NEU1
164-methylumbelliferone4110.5GUSB, NEU1
17sialic acid4110.5FUCA1, ARSH, NEU1, CTNS
18dermatan sulfate4110.5IDS, IDUA, GUSB
19sulfate41 2211.4ARSA, IDS, GUSB, ARSH, IDUA
20ceramide4110.4SMPD1, ARSA, CLN3, GBA
21cerebroside4110.4ARSA, ARSH
22glycosaminoglycan4110.4ARSH, SGSH, GUSB, IDUA, IDS, ARSA
23castanospermine41 5511.4GBA, NEU1
24polysaccharide4110.3NEU1, FUCA1, IDUA, ARSA, M6PR, GBA
25periodate4110.3NEU1, NAGA
26daunorubicin41 46 1112.3IDUA, GUSB, NEU1
27heparan sulfate41 2211.3M6PR, SGSH, IDS, ARSA, IDUA, ARSH
28mannose4110.3GBA, ARSA, IDUA, FUCA1, MANBA, SMPD1
29cysteine4110.2ARSA, SMPD1, NEU1, IDS, AGA, GBA
30mannose 6-phosphate41 2211.1M6PR, CLN3, ARSA, AGA, IDUA, NEU1
31iduronic acid41 2211.0IDS, IDUA
32serine4110.0NEU1, M6PR, ARSA, ARSH, CLN3, SMPD1
33lipid419.8GBA, SMPD1, M6PR, MCOLN1, ARSA, ARSH

GO Terms for genes affiliated with Lysosomal Storage Disease

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15Gene Ontology
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Cellular components related to lysosomal storage disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1late endosomeGO:00577010.2CLN3, M6PR, CTNS
2lysosomal lumenGO:0432029.8GBA, SGSH, SMPD1, CTSA, GUSB, NEU1
3lysosomeGO:0057649.7CTSA, CTNS, FUCA1, NAGA, MANBA, NEU1
4lysosomal membraneGO:0057659.6CTNS, M6PR, HGSNAT, MCOLN1, NEU1, CLN3

Biological processes related to lysosomal storage disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1termination of signal transductionGO:02302110.4GBA, SMPD1
2lysosome organizationGO:00704010.4GBA, CLN3, IDUA
3ceramide biosynthetic processGO:04651310.3GBA, SMPD1
4glycosaminoglycan catabolic processGO:00602710.3IDS, IDUA, HGSNAT, GUSB, FUCA1, SGSH
5sphingomyelin metabolic processGO:00668410.3SMPD1, CLN3
6glycosaminoglycan metabolic processGO:03020310.3SGSH, GUSB, HGSNAT, IDUA, IDS
7glycosphingolipid metabolic processGO:00668710.3SMPD1, CTSA, NEU1, ARSA, ARSH, GBA
8sphingolipid metabolic processGO:00666510.2SMPD1, CTSA, NEU1, ARSA, ARSH, GBA
9chondroitin sulfate catabolic processGO:03020710.2IDS, IDUA
10carbohydrate metabolic processGO:00597510.2SGSH, GUSB, MANBA, HGSNAT, IDUA, IDS
11phospholipid metabolic processGO:00664410.1SLC44A4, SMPD1, CTSA, NEU1, ARSA, ARSH
12positive regulation of protein dephosphorylationGO:03530710.0GBA, SMPD1
13small molecule metabolic processGO:0442819.8SGSH, SLC44A4, SMPD1, CTSA, GUSB, HGSNAT

Molecular functions related to lysosomal storage disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mannose bindingGO:00553710.3MANBA, M6PR
2sulfuric ester hydrolase activityGO:00848410.2SGSH, ARSA
3cation bindingGO:04316910.1GBA, IDUA, MANBA, NAGA, GUSB, FUCA1
4arylsulfatase activityGO:00406510.0ARSH, ARSA

Products for genes affiliated with Lysosomal Storage Disease

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  • Antibodies
  • Proteins
  • Lysates

Sources for Lysosomal Storage Disease

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3CDC
13ExPASy
14FMA
21HGMD
22HMDB
23ICD10
24ICD10 via Orphanet
25ICD9CM
27KEGG
31MeSH
32MESH via Orphanet
33MGI
36NCIt
37NDF-RT
40NINDS
41Novoseek
43OMIM
44OMIM via Orphanet
47PubMed
48QIAGEN
53SNOMED-CT via Orphanet
56UMLS
57UMLS via Orphanet
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