MCID: LYS002
MIFTS: 52

Lysosomal Storage Disease malady

Summaries for Lysosomal Storage Disease

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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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 hydrops fetalis. 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. Related mouse phenotypes are liver/biliary system and integument.

Wikipedia:64 Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of approximately 50 rare inherited... more...

Aliases & Classifications for Lysosomal Storage Disease

Sources:
8Disease Ontology, 10DISEASES, 31LifeMap Discovery™, 45Novoseek, 61UMLS, 35MeSH, 57SNOMED-CT, 40NCIt
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Aliases & Descriptions:

lysosomal storage disease 8 10 31
lysosomal storage diseases 45 61
lysosomal storage metabolism disorder 8
inborn lysosomal enzyme disorder 8
disorder of lysosomal enzyme 8


External Ids:

Disease Ontology8 DOID:3211
MeSH35 D016464
SNOMED-CT57 23585005
NCIt40 C61250

Related Diseases for Lysosomal Storage Disease

Sources:
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 87)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis30.9AGA, NAGA, FUCA1
2hydrops fetalis30.8GBA, NEU1, GUSB
3niemann–pick disease30.7M6PR, CHIT1, SMPD1
4beta-mannosidosis30.6MANBA, NAGA, SGSH
5sly syndrome30.5IDUA, GUSB
6mucopolysaccharidosis i30.5IDUA, ARSH
7mucopolysaccharidosis ii30.4IDS
8mucopolysaccharidosis iii30.4ARSH, SGSH
9mucolipidosis30.4NEU1, NAGA
10mucopolysaccharidosis iv30.2GUSB, ARSH, NEU1
11mental retardation30.2IDUA, IDS, GUSB, AGA
12metachromatic leukodystrophy30.2ARSH, ARSA, GLA
13glycogen storage disease ii30.2IDUA, M6PR
14fabry disease30.2CHIT1, GLA, GBA, NAGA, FUCA1, ARSA
15krabbe disease30.2ARSA, CHIT1
16brain disease10.6
17niemann-pick disease10.5
18pick's disease10.5
19aspartylglucosaminuria10.4
20galactosialidosis10.4
21lip disease10.4
22alpha-mannosidosis10.3
23cystinosis10.3
24ceroid storage disease10.3
25immune hydrops fetalis10.3
26corneal disease10.1
27cholesterol ester storage disease10.1
28chediak-higashi syndrome10.1
29osteopetrosis10.1
30sandhoff disease10.1
31sialuria10.1
32infertility10.1
33lipoid proteinosis10.1
34pycnodysostosis10.1
35n syndrome10.1
36batten disease10.1
37amyloidosis10.1
38aortic disease10.1
39bone remodeling disease10.1
40tauopathy10.1
41dwarfism10.1
42neuronal ceroid-lipofuscinoses10.1
43mucopolysaccharidosis type iiic10.1
44gm1 gangliosidosis type 110.1
45mannosidosis, beta a, lysosomal10.1
46yunis varon syndrome10.1
47gm1 gangliosidosis type 210.1
48glycoproteinosis10.1
49infantile free sialic acid storage disease10.1
50lipogranulomatosis10.1

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



Diseases related to lysosomal storage disease

Clinical Features for Lysosomal Storage Disease

Drugs & Therapeutics for Lysosomal Storage Disease

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™, 61UMLS, 41NDF-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

Anatomical Context for Lysosomal Storage Disease

Animal Models for Lysosomal Storage Disease or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Lysosomal Storage Disease

Sources:
51PubMed
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Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. (24432014)
2014
2
Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)
2013
3
Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. (24038957)
2013
4
High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. (22911605)
2012
5
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. (22216298)
2011
6
Niemann-Pick C disease: not your average lysosomal storage disease. (21205672)
2011
7
New strategies for enzyme replacement therapy for lysosomal storage diseases. (20345279)
2010
8
Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)
2009
9
Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins. (19124046)
2009
10
Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. (19324223)
2009
11
Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. (18254660)
2008
12
Abnormalities in neural progenitor cells in a dog model of lysosomal storage disease. (17882020)
2007
13
Epidemiology of lysosomal storage diseases: an overview (21290699)
2006
14
Lysosomal storage diseases in non-immune hydrops fetalis pregnancies. (16674934)
2006
15
Role of patient support groups in lysosomal storage diseases (21290682)
2006
16
Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. (16950870)
2006
17
Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). (15604908)
2005
18
Widespread gene transduction to the central nervous system by adenovirus in utero: implication for prenatal gene therapy to brain involvement of lysosomal storage disease. (15459963)
2004
19
Lysosomal storage disease in Sida carpinifolia toxicosis: an induced mannosidosis in horses. (12875319)
2003
20
Lysosomal storage results in impaired survival but normal neurite outgrowth in dorsal root ganglion neurones from a mouse model of Sandhoff disease. (11849560)
2002
21
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. (11405346)
2001
22
A lysosomal storage disease of Romney sheep that resembles human type 3 GM1 gangliosidosis. (11307621)
2001
23
Abnormal immune function in vivo in a murine model of lysosomal storage disease. (10832733)
2000
24
The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II. (10206684)
1998
25
Treatment of lysosomal storage disease in MPS VII mice using a recombinant adeno-associated virus. (10023443)
1998
26
A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease? (9703182)
1998
27
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. (9382133)
1997
28
Gene therapy for lysosomal storage disease: a no-brainer? Transplants of fibroblasts secreting high levels of beta-glucuronidase decrease lesions in the brains of mice with Sly syndrome, a lysosomal storage disease. (9212092)
1997
29
A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. (9365051)
1997
30
A novel missense mutation (Gly2Arg) in the human lysosomal acid lipase gene is found in individuals with and without cholesterol ester storage disease (CESD). (8937772)
1996
31
New insight into lysosomal protein storage disease: delayed catabolism of ATP synthase subunit c in Batten disease. (8786816)
1995
32
Correction of deficient enzyme activity in a lysosomal storage disease, aspartylglucosaminuria, by enzyme replacement and retroviral gene transfer. (7548272)
1995
33
Medicinal therapy for lysosomal storage diseases]. (8577061)
1995
34
Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells. (7668332)
1995
35
Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. (8312372)
1994
36
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)
1993
37
The conservative substitution Asp-645-->Glu in lysosomal alpha- glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. (8094613)
1993
38
Inherited lysosomal storage disease in an English springer spaniel. (1559875)
1992
39
Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. (1348043)
1992
40
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. (2010546)
1991
41
Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. (2564952)
1989
42
Morphological and enzymatic heterogeneity of suramin-induced lysosomal storage disease in some tissues of mice and rats. (2875899)
1986
43
Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases. (6626569)
1983
44
Biochemical studies on a lysosomal storage disease in Abyssinian cats. (6646655)
1983
45
Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. (6627685)
1983
46
Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)
1983
47
Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease. (7462673)
1981
48
A suspected lysosomal storage disease in Abyssinian cats. Part II: histopathological and ultrastructural aspects. (599533)
1977
49
Letter: Intestinal biopsy in lysosomal storage disease. (4139453)
1974
50
Fine structure and silver-staining patterns of lysosome-like bodies in absorptive cells of the small intestine in normal children and children with a lysosomal storage disease. (4201198)
1973

Genetic Variations for Lysosomal Storage Disease

Expression for genes affiliated with Lysosomal Storage Disease

Sources:
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

Sources:
54Reactome, 30KEGG
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Compounds for genes affiliated with Lysosomal Storage Disease

Sources:
45Novoseek, 24HMDB, 11DrugBank, 60Tocris Bioscience, 50PharmGKB, 29IUPHAR
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Compounds related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
1p-nitrocatechol sulfate4510.7ARSH, ARSA
2formylglycine4510.7ARSA, ARSH
3p-cresol4510.7GUSB, ARSH
4n-acetylgalactosamine 6-sulfate4510.7ARSA, ARSH
5dermatan45 2411.7GUSB, IDS, IDUA
6sulfatide4510.7ARSH, ARSA, NEU1
7cerebroside4510.7GLA, ARSA, ARSH
8bifidobacterium4510.7GLA, GUSB
9glycosphingolipid4510.7GBA, GLA, ARSA
10miglustat45 1111.7GBA, CHIT1
11gal(beta1-3)galnac4510.6NEU1, NAGA
12percoll4510.6FUCA1, GBA, M6PR
13glutaraldehyde4510.6NEU1, GLA, FUCA1
141-deoxynojirimycin45 60 1112.6FUCA1, GBA, GLA, NEU1
154-methylumbelliferone4510.6GUSB, NEU1
16mucopolysaccharide4510.6IDUA, IDS, ARSH, ARSA
17glycolipid4510.6NEU1, GLA, GBA, NAGA
18dermatan sulfate4510.6IDUA, IDS, GUSB
19periodate4510.6NAGA, NEU1
20chitin45 2411.6CHIT1, GLA
21monensin4510.6SMPD1, GLA, M6PR
22asparagine4510.6M6PR, ARSA, AGA, GBA
23glucosylceramide45 2411.6CHIT1, GLA, GBA, SMPD1
24iduronic acid45 2411.6IDS, IDUA
25sialic acid4510.6CTNS, ARSH, NEU1, FUCA1
26castanospermine4510.6GBA, NEU1
27daunorubicin45 50 1112.6NEU1, GUSB, IDUA
28sulfate45 2411.5IDUA, IDS, GUSB, ARSH, ARSA
29ceramide4510.5SMPD1, GBA, GLA, ARSA
30glycosaminoglycan4510.5IDUA, IDS, GUSB, ARSH, ARSA, SGSH
31n-acetylglucosamine4510.5ARSA, NEU1, AGA, CHIT1, NAGA, FUCA1
32lactosylceramide4510.5GBA, GLA
33hydrogen45 2411.5ARSH, ARSA, AGA, GLA, GBA
34ganglioside4510.5IDUA, ARSA, NEU1, GLA, FUCA1, SMPD1
35galactose4510.5NEU1, GLA, GBA
36aspartate4510.4GUSB, ARSA, AGA, GLA, SMPD1
37methionine4510.4ARSA, GLA, FUCA1, SMPD1
38heparan sulfate45 2411.4M6PR, HGSNAT, IDUA, IDS, ARSH, ARSA
39bisphenol a4510.4GUSB, ARSH
40ether4510.3GUSB, ARSH
41cysteine4510.3M6PR, IDS, ARSH, ARSA, NEU1, AGA
42polysaccharide4510.3M6PR, IDUA, ARSA, NEU1, CHIT1, MANBA
43daidzein4510.2GUSB, ARSH
44lipid4510.2M6PR, ARSH, ARSA, CHIT1, GLA, MCOLN1
45mannose 6-phosphate45 2411.2SMPD1, M6PR, FUCA1, GBA, GLA, AGA
46mannose4510.2GBA, GLA, MANBA, CHIT1, NEU1, ARSA
47serine4510.1M6PR, ARSH, ARSA, NEU1, GLA, GBA
48arginine4510.1SMPD1, GLA, ARSH, IDUA, M6PR
49triamcinolone acetonide45 2911.0NEU1, SMPD1
50calcium45 50 11 2413.0IDS, GUSB, ARSH, GLA, MCOLN1, GBA

GO Terms for genes affiliated with Lysosomal Storage Disease

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:00576510.0MCOLN1, M6PR, HGSNAT, GBA, NEU1, CTNS
2lysosomal lumenGO:0432029.7IDUA, SMPD1, SGSH, GBA, GLA, NEU1
3lysosomeGO:0057649.5FUCA1, NEU1, NAGA, GLA, MANBA, CHIT1

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Lysosomal Storage Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet