MCID: LYS002
MIFTS: 58

Lysosomal Storage Disease malady

Metabolic diseases category

Summaries for Lysosomal Storage Disease

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8Disease Ontology, 63Wikipedia, 32MalaCards
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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 fucosidosis and mucopolysaccharidosis. An important gene associated with Lysosomal Storage Disease is AGA (aspartylglucosaminidase), and among its related pathways are CS/DS degradation and Glycosphingolipid biosynthesis - globo series. The compounds p-nitrocatechol sulfate and formylglycine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related mouse phenotypes are liver/biliary system and integument.

Wikipedia:63 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, 30LifeMap Discovery™, 44Novoseek, 60UMLS, 34MeSH, 56SNOMED-CT, 39NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

lysosomal storage disease 8 10 30
lysosomal storage diseases 44 60
lysosomal storage metabolism disorder 8
inborn lysosomal enzyme disorder 8
disorder of lysosomal enzyme 8


External Ids:

Disease Ontology8 DOID:3211
MeSH34 D016464
SNOMED-CT56 23585005
NCIt39 C61250

Related Diseases for Lysosomal Storage Disease

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17GeneCards, 18GeneDecks
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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 88)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis30.8AGA, NAGA, FUCA1
2mucopolysaccharidosis30.8HGSNAT, IDUA, IDS, GUSB, ARSH, ARSA
3sly syndrome30.7IDUA, GUSB
4beta-mannosidosis30.6MANBA, NAGA, SGSH
5gangliosidosis30.4NEU1
6mucopolysaccharidosis iv30.4GUSB, ARSH, NEU1
7mucopolysaccharidosis iii30.4ARSH, SGSH
8gangliosidosis gm130.4ARSA, NEU1, GLA
9mucolipidosis30.4NEU1, NAGA
10mucolipidosis ii30.2M6PR, GUSB, ARSH, NEU1, FUCA1, SMPD1
11leukodystrophy30.1ARSH
12mucopolysaccharidosis ii30.1IDS
13mucopolysaccharidosis vi30.1ARSH, ARSA
14metachromatic leukodystrophy30.1ARSH, ARSA, GLA
15acid sphingomyelinase deficiency30.1SMPD1
16glycogen storage disease ii30.1IDUA, M6PR
17fabry disease30.1CHIT1, GLA, GBA, NAGA, FUCA1, ARSA
18krabbe disease30.1ARSA, CHIT1
19brain disease10.5
20niemann-pick disease10.5
21aspartylglucosaminuria10.4
22neuronitis10.4
23central nervous system disease10.4
24nervous system disease10.4
25intestinal disease10.3
26liver disease10.3
27alpha-mannosidosis10.3
28cystinosis10.3
29retinal disease10.3
30retinitis10.3
31neurologic diseases10.3
32galactosialidosis10.3
33neuronal ceroid-lipofuscinoses10.1
34corneal disease10.1
35cholesterol ester storage disease10.1
36chediak-higashi syndrome10.1
37osteopetrosis10.1
38sandhoff disease10.1
39sialuria10.1
40infertility10.1
41lipoid proteinosis10.1
42pycnodysostosis10.1
43batten disease10.1
44amyloidosis10.1
45aortic disease10.1
46bone remodeling disease10.1
47collagen disease10.1
48gonadal disease10.1
49lipid storage disease10.1
50mitral valve disease10.1

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



Diseases related to lysosomal storage disease

Clinical Features for Lysosomal Storage Disease

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Drugs & Therapeutics for Lysosomal Storage Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 30LifeMap Discovery™, 60UMLS, 40NDF-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
Read about Lysosomal Storage Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Lysosomal Storage Disease:
ALD-601, umbilical cord blood cells for early infantile-onset lysosomal storage diseases
Hemacord
Embryonic/Adult Cultured Cells Related to Lysosomal Storage Disease:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 17882722
Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Lysosomal Storage Disease

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Anatomical Context for Lysosomal Storage Disease

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32MalaCards
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MalaCards organs/tissues related to Lysosomal Storage Disease:

32
Brain, Bone, Bone marrow, Liver, Small intestine, Testes, Fetal liver, Dorsal root ganglion, Hypothalamus, T cells, Myeloid, Skin, Thyroid, Skeletal muscle, Pituitary

Animal Models for Lysosomal Storage Disease or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Lysosomal Storage Disease:

36 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537010.1IDUA, NEU1, AGA, MANBA, GLA, GBA
2MP:001077110.1IDUA, IDS, GUSB, NEU1, AGA, MCOLN1
3MP:000539010.1M6PR, IDUA, IDS, CTNS, GUSB, NEU1
4MP:000539110.0IDS, CTNS, NEU1, MCOLN1, SGSH, IDUA
5MP:000536710.0M6PR, IDUA, CTNS, GUSB, NEU1, AGA
6MP:00053979.9IDUA, GUSB, ARSA, NEU1, MANBA, GBA
7MP:00053879.9IDUA, IDS, ARSA, NEU1, CHIT1, MANBA
8MP:00036319.9NEU1, ARSA, IDS, IDUA, AGA, MANBA
9MP:00053849.8GUSB, CTNS, IDS, IDUA, M6PR, NEU1
10MP:00053769.7M6PR, IDUA, CTNS, GUSB, ARSA, NEU1
11MP:00053789.7M6PR, IDUA, IDS, GUSB, NEU1, AGA
12MP:00053869.7SMPD1, M6PR, IDUA, IDS, CTNS, GUSB
13MP:00107689.5M6PR, IDUA, IDS, GUSB, NEU1, AGA

Publications for Lysosomal Storage Disease

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Sources:
50PubMed
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Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 258)
idTitleAuthorsYear
1
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
2
Cholesteryl ester storage disease: protean presentations of lysosomal acid lipase deficiency. (23403440)
2013
3
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. (24038957)
2013
4
GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. (22156940)
2012
5
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C. (22585405)
2012
6
Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. (22990858)
2012
7
The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. (21382365)
2011
8
Lysosomal storage disease: revealing lysosomal function and physiology. (20430954)
2010
9
Lysosomal storage disease in two presumed-related springboks (Antidorcas marsupialis). (20722261)
2010
10
The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. (19132115)
2009
11
Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. (19324223)
2009
12
A study on serum IgE and clinical symptomatology of atopy in patients suffering from the lysosomal storage disorder Fabry disease. (18384565)
2008
13
Rapid and effective screening for lysosomal storage disease: how close are we? (18824571)
2008
14
History of lysosomal storage diseases: an overview (21290707)
2006
15
Laboratory diagnosis of lysosomal storage diseases (21290691)
2006
16
Cellular pathophysiology of lysosomal storage diseases (21290703)
2006
17
Beta-mannosidosis mice: a model for the human lysosomal storage disease. (16377659)
2006
18
Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease. (16568247)
2006
19
Animal models of lysosomal storage diseases: their development and clinical relevance (21290677)
2006
20
Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)
2005
21
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. (15542394)
2004
22
Pseudo-lysosomal storage disease caused by EMLA cream. (15303008)
2004
23
Diagnosis and differential diagnosis of lysosomal glycogen storage disease]. (14551696)
2003
24
Biodistribution and efficacy of donor T lymphocytes in a murine model of lysosomal storage disease. (12573618)
2003
25
Efficacy 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)
2002
26
Early-onset lysosomal glycogen storage disease with normal acid maltase. (11596653)
2001
27
Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)
2000
28
Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. (11044913)
2000
29
Yunis-Varon syndrome: evidence for a lysosomal storage disease. (11078567)
2000
30
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
31
A lysosomal storage disease induced by Ipomoea carnea in goats in Mozambique. (10353359)
1999
32
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)
1998
33
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II. (8884087)
1996
34
Medicinal therapy for lysosomal storage diseases]. (8577061)
1995
35
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha- glucosidase in patients with glycogen storage disease type II. (7881422)
1994
36
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. (8312372)
1994
37
Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (8338934)
1993
38
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. (8254026)
1993
39
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. (2010546)
1991
40
Fetal liver cell transplantation: survival of grafted BALB/c lysosomal storage disease mice. (2219360)
1990
41
Diagnosis of lysosomal storage diseases. Pathomorphologic and biochemical possibilities]. (2122616)
1990
42
Distribution of saposin proteins (sphingolipid activator proteins) in lysosomal storage and other diseases. (2110365)
1990
43
Defective lysosomal egress of free sialic acid (N-acetylneuraminic acid) in fibroblasts of patients with infantile free sialic acid storage disease. (2768266)
1989
44
Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease. (3145485)
1988
45
First trimester prenatal diagnosis of lysosomal storage disease. Study of alpha-L-fucosidase isoenzyme patterns in fetal and maternal tissue. (3674551)
1987
46
Studies on the defect underlying the lysosomal storage of sialic acid in Salla disease. Lysosomal accumulation of sialic acid formed from N-acetyl-mannosamine or derived from low density lipoprotein in cultured mutant fibroblasts. (3944269)
1986
47
HPLC analysis of neutral glycolipids: an aid in the diagnosis of lysosomal storage disease. (6616861)
1983
48
Four patients with a new lysosomal storage disorder (Salla disease). (723890)
1978
49
A suspected lysosomal storage disease in Abyssinian cats. Part I: genetic, clinical and clinical pathological aspects. (599532)
1977
50
Letter: Lysosomal storage disease in chihuahuas. (1191142)
1975

Genetic Variations for Lysosomal Storage Disease

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Expression for genes affiliated with Lysosomal Storage Disease

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Lysosomal Storage Disease

Search GEO for disease gene expression data for Lysosomal Storage Disease.

Pathways for genes affiliated with Lysosomal Storage Disease

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53Reactome, 29KEGG
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Compounds for genes affiliated with Lysosomal Storage Disease

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44Novoseek, 24HMDB, 11DrugBank, 59Tocris Bioscience, 49PharmGKB, 28IUPHAR
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Compounds related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4410.7ARSH, ARSA
2formylglycine4410.7ARSA, ARSH
3p-cresol4410.7GUSB, ARSH
4n-acetylgalactosamine 6-sulfate4410.7ARSA, ARSH
5dermatan44 2411.7GUSB, IDS, IDUA
6sulfatide4410.7ARSH, ARSA, NEU1
7cerebroside4410.7GLA, ARSA, ARSH
8bifidobacterium4410.7GLA, GUSB
9glycosphingolipid4410.7GBA, GLA, ARSA
10miglustat44 1111.7GBA, CHIT1
11gal(beta1-3)galnac4410.6NEU1, NAGA
12percoll4410.6FUCA1, GBA, M6PR
13glutaraldehyde4410.6NEU1, GLA, FUCA1
141-deoxynojirimycin44 59 1112.6FUCA1, GBA, GLA, NEU1
154-methylumbelliferone4410.6GUSB, NEU1
16mucopolysaccharide4410.6IDUA, IDS, ARSH, ARSA
17glycolipid4410.6NEU1, GLA, GBA, NAGA
18dermatan sulfate4410.6IDUA, IDS, GUSB
19periodate4410.6NAGA, NEU1
20chitin44 2411.6CHIT1, GLA
21monensin4410.6SMPD1, GLA, M6PR
22asparagine4410.6M6PR, ARSA, AGA, GBA
23glucosylceramide44 2411.6CHIT1, GLA, GBA, SMPD1
24iduronic acid44 2411.6IDS, IDUA
25sialic acid4410.6CTNS, ARSH, NEU1, FUCA1
26castanospermine4410.6GBA, NEU1
27daunorubicin44 49 1112.6NEU1, GUSB, IDUA
28sulfate44 2411.5IDUA, IDS, GUSB, ARSH, ARSA
29ceramide4410.5SMPD1, GBA, GLA, ARSA
30glycosaminoglycan4410.5IDUA, IDS, GUSB, ARSH, ARSA, SGSH
31n-acetylglucosamine4410.5ARSA, NEU1, AGA, CHIT1, NAGA, FUCA1
32lactosylceramide4410.5GBA, GLA
33hydrogen44 2411.5ARSH, ARSA, AGA, GLA, GBA
34ganglioside4410.5IDUA, ARSA, NEU1, GLA, FUCA1, SMPD1
35galactose4410.5NEU1, GLA, GBA
36aspartate4410.4GUSB, ARSA, AGA, GLA, SMPD1
37methionine4410.4ARSA, GLA, FUCA1, SMPD1
38heparan sulfate44 2411.4M6PR, HGSNAT, IDUA, IDS, ARSH, ARSA
39bisphenol a4410.4GUSB, ARSH
40ether4410.3GUSB, ARSH
41cysteine4410.3M6PR, IDS, ARSH, ARSA, NEU1, AGA
42polysaccharide4410.3M6PR, IDUA, ARSA, NEU1, CHIT1, MANBA
43daidzein4410.2GUSB, ARSH
44lipid4410.2M6PR, ARSH, ARSA, CHIT1, GLA, MCOLN1
45mannose 6-phosphate44 2411.2SMPD1, M6PR, FUCA1, GBA, GLA, AGA
46mannose4410.2GBA, GLA, MANBA, CHIT1, NEU1, ARSA
47serine4410.1M6PR, ARSH, ARSA, NEU1, GLA, GBA
48arginine4410.1SMPD1, GLA, ARSH, IDUA, M6PR
49triamcinolone acetonide44 2811.0NEU1, SMPD1
50calcium44 49 11 2413.0IDS, GUSB, ARSH, GLA, MCOLN1, GBA

GO Terms for genes affiliated with Lysosomal Storage Disease

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16Gene Ontology
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Cellular components related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:00576510.0HGSNAT, CTNS, NEU1, MCOLN1, GBA, M6PR
2lysosomal lumenGO:0432029.7SMPD1, IDUA, IDS, GUSB, ARSA, NEU1
3lysosomeGO:0057649.5CTNS, ARSA, NEU1, AGA, CHIT1, MANBA

Biological processes related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1glycosylceramide catabolic processGO:04647710.5GLA, NAGA
2termination of signal transductionGO:02302110.4GBA, SMPD1
3glycoside catabolic processGO:01613910.4NAGA, GLA
4glycosaminoglycan catabolic processGO:00602710.4FUCA1, SGSH, GUSB, IDS, IDUA, HGSNAT
5positive regulation of protein dephosphorylationGO:03530710.3GBA, SMPD1
6ceramide biosynthetic processGO:04651310.3SMPD1, GBA
7glycosaminoglycan metabolic processGO:03020310.3HGSNAT, IDUA, IDS, GUSB, SGSH
8glycosphingolipid metabolic processGO:00668710.3ARSH, ARSA, NEU1, GLA, GBA, SMPD1
9sphingolipid metabolic processGO:00666510.3ARSH, ARSA, NEU1, GLA, GBA, SMPD1
10chondroitin sulfate catabolic processGO:03020710.2IDUA, IDS
11carbohydrate metabolic processGO:00597510.2HGSNAT, IDUA, IDS, GUSB, MANBA, GBA
12oligosaccharide metabolic processGO:00931110.0GLA, NAGA
13small molecule metabolic processGO:0442819.8HGSNAT, IDUA, IDS, GUSB, ARSH, ARSA

Molecular functions related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alpha-galactosidase activityGO:00455710.3NAGA, GLA
2mannose bindingGO:00553710.3MANBA, M6PR
3sulfuric ester hydrolase activityGO:00848410.2SGSH, ARSA
4arylsulfatase activityGO:00406510.0ARSA, ARSH

Products for genes affiliated with Lysosomal Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lysosomal Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet