MCID: LYS002
MIFTS: 45

Lysosomal Storage Disease malady

Metabolic diseases category

Aliases & Classifications for Lysosomal Storage Disease

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Lysosomal Storage Disease, Aliases & Descriptions:

Name: Lysosomal Storage Disease 30 9 11
Lysosomal Storage Diseases 43 60
Lysosomal Storage Metabolism Disorder 9
 
Inborn Lysosomal Enzyme Disorder 9
Disorder of Lysosomal Enzyme 9


Classifications:

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


External Ids:

Disease Ontology9 DOID:3211
MeSH33 D016464
SNOMED-CT55 23585005
NCIt38 C61250

Summaries for Lysosomal Storage Disease

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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 based summary: 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:63 Lysosomal storage diseases (LSDs; /?la?s??so?m?l/) are a group of approximately 50 rare inherited... more...

Related Diseases for Lysosomal Storage Disease

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Diseases related to Lysosomal Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 57)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.1AGA, FUCA1
2mucopolysaccharidosis30.9HGSNAT, SGSH, IDS
3mannosidosis, beta30.6SGSH, MANBA
4hydrops fetalis30.6GBA, NEU1
5fabry disease29.9GBA, FUCA1
6mannosidosis10.5
7aspartylglucosaminuria10.4
8pick disease10.4
9niemann-pick disease10.4
10neuronitis10.4
11galactosialidosis10.4
12cystinosis10.4
13mucopolysaccharidosis vii10.3
14mannosidosis, alpha-, types i and ii10.3
15hematopoietic stem cell transplantation10.3
16mucolipidosis10.3
17gangliosidosis10.3
18retinitis10.3
19non-immune hydrops fetalis10.3
20immune hydrops fetalis10.3
21pycnodysostosis10.1
22chediak-higashi syndrome10.1
23gm1-gangliosidosis, type i10.1
24gm1-gangliosidosis, type ii10.1
25salla disease10.1
26yunis-varon syndrome10.1
27farber lipogranulomatosis10.1
28sialuria10.1
29krabbe disease10.1
30glycogen storage disease ii10.1
31metachromatic leukodystrophy10.1
32mucopolysaccharidosis type iiic10.1
33mucopolysaccharidosis type iiid10.1
34mucopolysaccharidosis iva10.1
35mucopolysaccharidisis type iiia10.1
36neuronal ceroid-lipofuscinoses10.1
37mucopolysaccharidosis iii10.1
38osteopetrosis10.1
39infertility10.1
40amyloidosis10.1
41leukodystrophy10.1
42lipid storage disease10.1
43neuronal ceroid lipofuscinosis10.1
44synucleinopathy10.1
45tauopathy10.1
46thyroiditis10.1
47dwarfism10.1
48acid sphingomyelinase deficiency10.1
49glycoproteinosis10.1
50infantile free sialic acid storage disease10.1

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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Drug clinical trials:

Search ClinicalTrials for Lysosomal Storage Disease

Search NIH Clinical Center for Lysosomal Storage Disease

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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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MalaCards organs/tissues related to Lysosomal Storage Disease:

31
Brain, Bone, Bone marrow, Liver, Small intestine, Thyroid, Skin, Testes, Myeloid, Hypothalamus, Fetal liver, Pituitary

Animal Models for Lysosomal Storage Disease or affiliated genes

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MGI Mouse Phenotypes related to Lysosomal Storage Disease:

35
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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Articles related to Lysosomal Storage Disease:

(show top 50)    (show all 181)
idTitleAuthorsYear
1
Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. (25586965)
2015
2
Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. (25728544)
2015
3
Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. (25741867)
2015
4
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. (24787480)
2014
5
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
6
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)
2013
7
Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)
2013
8
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. (22216298)
2011
9
New strategies for enzyme replacement therapy for lysosomal storage diseases. (20345279)
2010
10
Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. (20020536)
2010
11
Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)
2009
12
Immune response hinders therapy for lysosomal storage diseases. (18654672)
2008
13
A case of suspected lysosomal storage disease in a neonatal Japanese black calf. (16466460)
2006
14
Biomarkers in lysosomal storage diseases (21290672)
2006
15
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. (16532490)
2006
16
History of lysosomal storage diseases: an overview (21290707)
2006
17
Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation using costimulatory blockade and donor lymphocyte infusion without myeloablation. (16487752)
2006
18
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
19
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. (15542394)
2004
20
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
21
Transplanted ER-MP12hi20-58med/hi myeloid progenitors produce resident macrophages from marrow that are therapeutic for lysosomal storage disease. (14757436)
2004
22
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
23
The status of hematopoietic stem cell transplantation in lysosomal storage disease. (14684234)
2003
24
Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier. (11983877)
2002
25
Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease. (11779044)
2001
26
Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)
2000
27
Gene therapy/cell therapy for lysosomal storage disease. (10863945)
2000
28
Abnormal immune function in vivo in a murine model of lysosomal storage disease. (10832733)
2000
29
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
30
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)
1998
31
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. (9128814)
1997
32
Lysosomal storage disease in an emu (Dromaius novaehollandiae). (8740717)
1996
33
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). (8740579)
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
Adult-onset lysosomal storage disease in a Schipperke dog: clinical, morphological and biochemical studies. (8213091)
1993
38
Inherited lysosomal storage disease in an English springer spaniel. (1559875)
1992
39
Insulin-like growth factors in lysosomal storage disease. (1728540)
1992
40
Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. (1799421)
1991
41
Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease. (3145485)
1988
42
Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. (3146925)
1988
43
Morphological and enzymatic heterogeneity of suramin-induced lysosomal storage disease in some tissues of mice and rats. (2875899)
1986
44
Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)
1985
45
Direct enzyme transfer from lymphocytes corrects a lysosomal storage disease. (4015639)
1985
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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Search GEO for disease gene expression data for Lysosomal Storage Disease.

Pathways for genes affiliated with Lysosomal Storage Disease

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Pathways related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

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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Sources:
43Novoseek, 24HMDB, 59Tocris Bioscience, 12DrugBank
See all sources

Compounds related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

(show all 34)
idCompoundScoreTop Affiliating Genes
1percoll439.7FUCA1, GBA
2heparan sulfate43 2410.6IDS, SGSH, HGSNAT
3con a439.5NEU1, FUCA1
4glutaraldehyde439.5FUCA1, NEU1
5castanospermine439.4NEU1, GBA
6asparagine439.4AGA, GBA
7glycolipid439.4NEU1, GBA
8Lactosylceramide (d18:1/24:0)249.4GBA, NEU1
9Lactosylceramide (d18:1/22:0)249.4GBA, NEU1
10Lactosylceramide (d18:1/18:0)249.4GBA, NEU1
11Galactosylceramide (d18:1/22:0)249.4NEU1, GBA
12glycosaminoglycan439.3SGSH, IDS
13Galactosylceramide (d18:1/24:1(15Z))249.3NEU1, GBA
14Galactosylceramide (d18:1/26:1(17Z))249.3NEU1, GBA
15Galactosylceramide (d18:1/20:0)249.3GBA, NEU1
16Galactosylceramide (d18:1/16:0)249.3NEU1, GBA
17Galactosylceramide (d18:1/18:0)249.3NEU1, GBA
18Galactosylceramide (d18:1/18:1(9Z))249.3NEU1, GBA
19Lactosylceramide (d18:1/26:1(17Z))249.3GBA, NEU1
20Lactosylceramide (d18:1/26:0)249.3GBA, NEU1
21Lactosylceramide (d18:1/25:0)249.2GBA, NEU1
22Lactosylceramide (d18:1/24:1(15Z))249.2GBA, NEU1
23ganglioside439.2NEU1, FUCA1
24Lactosylceramide (d18:1/16:0)249.2GBA, NEU1
25n-acetylglucosamine439.2FUCA1, NEU1, AGA
26Lactosylceramide (d18:1/12:0)249.1GBA, NEU1
27sialic acid439.1NEU1, FUCA1
28galactose439.0GBA, NEU1
291-deoxynojirimycin59 43 1210.9NEU1, FUCA1, GBA
30cysteine438.6GBA, IDS, NEU1, AGA
31mannose 6-phosphate43 249.6AGA, NEU1, FUCA1, GBA
32Water248.4NEU1, IDS, FUCA1, GBA
33mannose438.4GBA, FUCA1, NEU1, MANBA
34polysaccharide438.4MANBA, NEU1, FUCA1, GBA

GO Terms for genes affiliated with Lysosomal Storage Disease

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Cellular components related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:00057658.6HGSNAT, GBA, NEU1
2lysosomal lumenGO:00432028.1GBA, IDS, SGSH, NEU1
3lysosomeGO:00057648.0AGA, FUCA1, NEU1, MANBA

Biological processes related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glycosaminoglycan metabolic processGO:00302039.2SGSH, HGSNAT, IDS
2sphingolipid metabolic processGO:00066659.0GBA, NEU1
3glycosaminoglycan catabolic processGO:00060278.8FUCA1, IDS, SGSH, HGSNAT
4glycosphingolipid metabolic processGO:00066878.7GBA, NEU1
5carbohydrate metabolic processGO:00059758.7HGSNAT, GBA, IDS, SGSH
6small molecule metabolic processGO:00442817.7HGSNAT, SGSH, IDS, NEU1, GBA

Products for genes affiliated with Lysosomal Storage Disease

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Lysosomal Storage Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet