MCID: LYS002
MIFTS: 51

Lysosomal Storage Disease malady

Summaries for Lysosomal Storage Disease

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Disease Ontology:9 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 Heparan sulfate/heparin (HS-GAG) metabolism and Glycosaminoglycan degradation. The compounds percoll and heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related mouse phenotypes are renal/urinary system and skeleton.

Wikipedia:66 Lysosomal storage diseases (LSDs; /?la?s??so?m?l/) are a group of approximately 50 rare inherited... more...

Aliases & Classifications for Lysosomal Storage Disease

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9Disease Ontology, 11DISEASES, 32LifeMap Discoveryā„¢, 46Novoseek, 63UMLS, 36MeSH, 41NCIt, 59SNOMED-CT
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Aliases & Descriptions:

lysosomal storage disease 9 11 32
lysosomal storage diseases 46 63
lysosomal storage metabolism disorder 9
inborn lysosomal enzyme disorder 9
disorder of lysosomal enzyme 9


External Ids:

Disease Ontology9 DOID:3211
MeSH36 D016464
SNOMED-CT59 23585005
NCIt41 C61250

Related Diseases for Lysosomal Storage Disease

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18GeneCards, 19GeneDecks
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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 61)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis30.9AGA, FUCA1
2mucopolysaccharidosis30.8HGSNAT, SGSH, IDS
3hydrops fetalis30.7GBA, NEU1
4beta-mannosidosis30.7SGSH, MANBA
5mucolipidosis ii30.2FUCA1, NEU1
6fabry disease30.2GBA, FUCA1
7sly syndrome10.5
8neuronitis10.4
9aspartylglucosaminuria10.4
10niemann-pick disease10.4
11galactosialidosis10.4
12cystinosis10.3
13mucolipidosis10.3
14alpha-mannosidosis10.3
15gangliosidosis10.3
16retinitis10.3
17non-immune hydrops fetalis10.3
18immune hydrops fetalis10.3
19hematopoietic stem cell transplantation10.3
20neuronal ceroid-lipofuscinoses10.1
21glycogen storage disease ii10.1
22chediak-higashi syndrome10.1
23krabbe disease10.1
24metachromatic leukodystrophy10.1
25tauopathy10.1
26infertility10.1
27osteopetrosis10.1
28mucopolysaccharidosis vi10.1
29mucopolysaccharidosis iii10.1
30mucopolysaccharidosis iv10.1
31mucopolysaccharidosis ii10.1
32sialuria10.1
33lipoid proteinosis10.1
34batten disease10.1
35pycnodysostosis10.1
36cholesterol ester storage disease10.1
37amyloidosis10.1
38leukodystrophy10.1
39lipid storage disease10.1
40neuronal ceroid lipofuscinosis10.1
41thyroiditis10.1
42dwarfism10.1
43acid sphingomyelinase deficiency10.1
44cholesteryl ester storage disease10.1
45glycoproteinosis10.1
46gm1 gangliosidosis type 110.1
47gm1 gangliosidosis type 210.1
48infantile free sialic acid storage disease10.1
49lipogranulomatosis10.1
50mucopolysaccharidosis type iiic10.1

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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 32LifeMap Discoveryā„¢, 63UMLS, 42NDF-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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34MalaCards
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MalaCards organs/tissues related to Lysosomal Storage Disease:

34
Brain, Bone, Bone marrow, Liver, Small intestine, Fetal liver, Hypothalamus, Myeloid, Testes, Skin, Thyroid, Pituitary

Animal Models for Lysosomal Storage Disease or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Lysosomal Storage Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.3SGSH, NEU1, MANBA, AGA
2MP:00053908.2NEU1, SGSH, IDS, GBA
3MP:00053708.0AGA, MANBA, NEU1, SGSH, GBA
4MP:00107717.9GBA, IDS, SGSH, NEU1, AGA
5MP:00053867.5GBA, IDS, SGSH, NEU1, MANBA, AGA
6MP:00053847.4GBA, IDS, SGSH, NEU1, MANBA, AGA
7MP:00036317.4GBA, IDS, SGSH, NEU1, MANBA, AGA
8MP:00053877.4GBA, IDS, SGSH, NEU1, MANBA

Publications for Lysosomal Storage Disease

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53PubMed
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Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 173)
idTitleAuthorsYear
1
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
2
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)
2013
3
Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)
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
New strategies for enzyme replacement therapy for lysosomal storage diseases. (20345279)
2010
7
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. (20020536)
2010
8
Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)
2009
9
Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders. (20040309)
2009
10
Immune response hinders therapy for lysosomal storage diseases. (18654672)
2008
11
A case of suspected lysosomal storage disease in a neonatal Japanese black calf. (16466460)
2006
12
Biomarkers in lysosomal storage diseases (21290672)
2006
13
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. (16532490)
2006
14
History of lysosomal storage diseases: an overview (21290707)
2006
15
Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation using costimulatory blockade and donor lymphocyte infusion without myeloablation. (16487752)
2006
16
Epidemiology of lysosomal storage diseases: an overview (21290699)
2006
17
Early onset of lysosomal storage disease in a murine model of mucopolysaccharidosis type VII: undegraded substrate accumulates in many tissues in the fetus and very young MPS VII mouse. (16222480)
2005
18
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. (15542394)
2004
19
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
20
Transplanted ER-MP12hi20-58med/hi myeloid progenitors produce resident macrophages from marrow that are therapeutic for lysosomal storage disease. (14757436)
2004
21
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
22
The status of hematopoietic stem cell transplantation in lysosomal storage disease. (14684234)
2003
23
Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier. (11983877)
2002
24
Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease. (11779044)
2001
25
Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)
2000
26
Gene therapy/cell therapy for lysosomal storage disease. (10863945)
2000
27
Abnormal immune function in vivo in a murine model of lysosomal storage disease. (10832733)
2000
28
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
29
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)
1998
30
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. (9128814)
1997
31
Lysosomal storage disease in an emu (Dromaius novaehollandiae). (8740717)
1996
32
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). (8740579)
1996
33
A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). (8817337)
1996
34
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
35
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. (8159689)
1994
36
Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (8338934)
1993
37
Insulin-like growth factors in lysosomal storage disease. (1728540)
1992
38
Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. (1799421)
1991
39
Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease. (3145485)
1988
40
Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. (3146925)
1988
41
Beta-galactosidase activity in fibroblasts and tissues from sheep with a lysosomal storage disease. (3149466)
1988
42
Morphological and enzymatic heterogeneity of suramin-induced lysosomal storage disease in some tissues of mice and rats. (2875899)
1986
43
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
44
Direct enzyme transfer from lymphocytes corrects a lysosomal storage disease. (4015639)
1985
45
Congenital ascites as a presenting sign of lysosomal storage disease. (6420531)
1984
46
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
47
Biochemical studies on a lysosomal storage disease in Abyssinian cats. (6646655)
1983
48
Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. (610425)
1977
49
GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. (404709)
1977
50
Letter: Intestinal biopsy in lysosomal storage disease. (4139453)
1974

Variations for Lysosomal Storage Disease

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Expression for genes affiliated with Lysosomal Storage Disease

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2BioGPS, 16Gene 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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51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Pathways related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.6IDS, SGSH
2
Show member pathways
9.2HGSNAT, IDS, SGSH
3
Show member pathways
9.0NEU1, GBA
4
Show member pathways
7.8GBA, HGSNAT, NEU1, SGSH, IDS
57.6AGA, MANBA, NEU1, FUCA1, GBA
66.4IDS, NEU1, MANBA, HGSNAT, AGA, FUCA1

Compounds for genes affiliated with Lysosomal Storage Disease

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46Novoseek, 25HMDB, 62Tocris Bioscience, 12DrugBank
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Compounds related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1percoll469.7FUCA1, GBA
2heparan sulfate46 2510.6IDS, SGSH, HGSNAT
3con a469.5NEU1, FUCA1
4glutaraldehyde469.5FUCA1, NEU1
5castanospermine469.4NEU1, GBA
6asparagine469.4AGA, GBA
7glycolipid469.4NEU1, GBA
8Lactosylceramide (d18:1/24:0)259.4GBA, NEU1
9Lactosylceramide (d18:1/22:0)259.4GBA, NEU1
10Lactosylceramide (d18:1/18:0)259.4GBA, NEU1
11Galactosylceramide (d18:1/22:0)259.4NEU1, GBA
12glycosaminoglycan469.3SGSH, IDS
13Galactosylceramide (d18:1/24:1(15Z))259.3NEU1, GBA
14Galactosylceramide (d18:1/26:1(17Z))259.3NEU1, GBA
15Galactosylceramide (d18:1/20:0)259.3GBA, NEU1
16Galactosylceramide (d18:1/16:0)259.3NEU1, GBA
17Galactosylceramide (d18:1/18:0)259.3NEU1, GBA
18Galactosylceramide (d18:1/18:1(9Z))259.3NEU1, GBA
19Lactosylceramide (d18:1/26:1(17Z))259.3GBA, NEU1
20Lactosylceramide (d18:1/26:0)259.3GBA, NEU1
21Lactosylceramide (d18:1/25:0)259.2GBA, NEU1
22Lactosylceramide (d18:1/24:1(15Z))259.2GBA, NEU1
23ganglioside469.2NEU1, FUCA1
24Lactosylceramide (d18:1/16:0)259.2GBA, NEU1
25n-acetylglucosamine469.2FUCA1, NEU1, AGA
26Lactosylceramide (d18:1/12:0)259.1GBA, NEU1
27sialic acid469.1NEU1, FUCA1
28galactose469.0GBA, NEU1
291-deoxynojirimycin62 46 1210.9NEU1, FUCA1, GBA
30cysteine468.6GBA, IDS, NEU1, AGA
31mannose 6-phosphate46 259.6AGA, NEU1, FUCA1, GBA
32Water258.4NEU1, IDS, FUCA1, GBA
33mannose468.4GBA, FUCA1, NEU1, MANBA
34polysaccharide468.4MANBA, NEU1, FUCA1, GBA

GO Terms for genes affiliated with Lysosomal Storage Disease

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17Gene Ontology
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Cellular components related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:0057658.6HGSNAT, NEU1, GBA
2lysosomal lumenGO:0432028.1NEU1, SGSH, IDS, GBA
3lysosomeGO:0057648.0FUCA1, NEU1, MANBA, AGA

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

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:0302039.2IDS, SGSH, HGSNAT
2sphingolipid metabolic processGO:0066659.0NEU1, GBA
3glycosaminoglycan catabolic processGO:0060278.8HGSNAT, SGSH, IDS, FUCA1
4glycosphingolipid metabolic processGO:0066878.7NEU1, GBA
5carbohydrate metabolic processGO:0059758.7HGSNAT, SGSH, IDS, GBA
6small molecule metabolic processGO:0442817.7GBA, IDS, SGSH, NEU1, HGSNAT

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet