MCID: LYS002
MIFTS: 54

Lysosomal Storage Disease malady

Metabolic diseases category
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Summaries for Lysosomal Storage Disease

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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 based summary: Lysosomal Storage Disease, also known as inborn lysosomal enzyme disorder, 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:65 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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Lysosomal Storage Disease, Aliases & Descriptions:

Name: Lysosomal Storage Disease 30 8 10
Inborn Lysosomal Enzyme Disorder 8 62
Disorder of Lysosomal Enzyme 8 62
 
Lysosomal Storage Diseases 44 62
Lysosomal Storage Metabolism Disorder 8


Classifications:

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


External Ids:

Disease Ontology8 DOID:3211
MeSH34 D016464
SNOMED-CT57 23585005
NCIt39 C61250

Related Diseases for Lysosomal Storage Disease

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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 62)
idRelated DiseaseScoreTop Affiliating Genes
1fucosidosis31.1FUCA1, AGA
2mucopolysaccharidosis30.9IDS, SGSH, HGSNAT
3beta-mannosidosis30.8MANBA, SGSH
4hydrops fetalis30.6NEU1, GBA
5mucolipidosis ii30.1NEU1, FUCA1
6fabry disease29.9GBA, FUCA1
7mannosidosis10.5
8sly syndrome10.5
9niemann-pick disease10.4
10aspartylglucosaminuria10.4
11neuronitis10.4
12galactosialidosis10.4
13alpha-mannosidosis10.3
14hematopoietic stem cell transplantation10.3
15cystinosis10.3
16mucolipidosis10.3
17gangliosidosis10.3
18retinitis10.3
19non-immune hydrops fetalis10.3
20immune hydrops fetalis10.3
21neuronal ceroid-lipofuscinoses10.1
22chediak-higashi syndrome10.1
23krabbe disease10.1
24metachromatic leukodystrophy10.1
25mucopolysaccharidosis ii10.1
26mucopolysaccharidosis vi10.1
27osteopetrosis10.1
28glycogen storage disease ii10.1
29lipoid proteinosis10.1
30cholesterol ester storage disease10.1
31infertility10.1
32batten disease10.1
33pycnodysostosis10.1
34sialuria10.1
35amyloidosis10.1
36leukodystrophy10.1
37lipid storage disease10.1
38neuronal ceroid lipofuscinosis10.1
39synucleinopathy10.1
40tauopathy10.1
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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Drug clinical trials:

Search ClinicalTrials for Lysosomal Storage Disease

Search NIH Clinical Center 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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MalaCards organs/tissues related to Lysosomal Storage Disease:

32
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:

36
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 177)
idTitleAuthorsYear
1
Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. (24787480)
2014
2
Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)
2013
3
Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)
2013
4
Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)
2013
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
Immune response hinders therapy for lysosomal storage diseases. (18654672)
2008
10
A case of suspected lysosomal storage disease in a neonatal Japanese black calf. (16466460)
2006
11
Biomarkers in lysosomal storage diseases (21290672)
2006
12
Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. (16532490)
2006
13
History of lysosomal storage diseases: an overview (21290707)
2006
14
Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation using costimulatory blockade and donor lymphocyte infusion without myeloablation. (16487752)
2006
15
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
16
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. (15542394)
2004
17
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
18
Transplanted ER-MP12hi20-58med/hi myeloid progenitors produce resident macrophages from marrow that are therapeutic for lysosomal storage disease. (14757436)
2004
19
Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)
2003
20
The status of hematopoietic stem cell transplantation in lysosomal storage disease. (14684234)
2003
21
Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier. (11983877)
2002
22
Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease. (11779044)
2001
23
Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)
2000
24
Gene therapy/cell therapy for lysosomal storage disease. (10863945)
2000
25
Abnormal immune function in vivo in a murine model of lysosomal storage disease. (10832733)
2000
26
Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)
1999
27
Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)
1998
28
Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. (9128814)
1997
29
Lysosomal storage disease in an emu (Dromaius novaehollandiae). (8740717)
1996
30
Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). (8740579)
1996
31
A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). (8817337)
1996
32
Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)
1995
33
Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. (8159689)
1994
34
Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (8338934)
1993
35
Adult-onset lysosomal storage disease in a Schipperke dog: clinical, morphological and biochemical studies. (8213091)
1993
36
Inherited lysosomal storage disease in an English springer spaniel. (1559875)
1992
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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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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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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Sources:
44Novoseek, 24HMDB, 61Tocris Bioscience, 11DrugBank
See all sources

Compounds related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

(show all 34)
idCompoundScoreTop Affiliating Genes
1percoll449.7FUCA1, GBA
2heparan sulfate44 2410.6IDS, SGSH, HGSNAT
3con a449.5NEU1, FUCA1
4glutaraldehyde449.5FUCA1, NEU1
5castanospermine449.4NEU1, GBA
6asparagine449.4AGA, GBA
7glycolipid449.4NEU1, 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
12glycosaminoglycan449.3SGSH, 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
23ganglioside449.2NEU1, FUCA1
24Lactosylceramide (d18:1/16:0)249.2GBA, NEU1
25n-acetylglucosamine449.2FUCA1, NEU1, AGA
26Lactosylceramide (d18:1/12:0)249.1GBA, NEU1
27sialic acid449.1NEU1, FUCA1
28galactose449.0GBA, NEU1
291-deoxynojirimycin61 44 1110.9NEU1, FUCA1, GBA
30cysteine448.6GBA, IDS, NEU1, AGA
31mannose 6-phosphate44 249.6AGA, NEU1, FUCA1, GBA
32Water248.4NEU1, IDS, FUCA1, GBA
33mannose448.4GBA, FUCA1, NEU1, MANBA
34polysaccharide448.4MANBA, 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/GeneDecks:

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

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

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet