Lysosomal Storage Disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

MCID: LYS002 MIFTS: 58	Lysosomal Storage Disease malady Metabolic diseases category
58 genes, 15 tissues, 88 related diseases, clinical trials.

Summaries for Lysosomal Storage Disease

Sources:
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

Sources:
⁸Disease Ontology, ¹⁰DISEASES, ³⁰LifeMap Discovery™, ⁴⁴Novoseek, ⁶⁰UMLS, ³⁴MeSH, ⁵⁶SNOMED-CT, ³⁹NCIt
See all sources

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

UMLS⁶⁰ C0085078

Related Diseases for Lysosomal Storage Disease

Sources:
¹⁷GeneCards, ¹⁸GeneDecks
See all sources

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

(show top 50) (show all 88)

id	Related Disease	Score	Top Affiliating Genes
1	fucosidosis	30.8	AGA, NAGA, FUCA1
2	mucopolysaccharidosis	30.8	HGSNAT, IDUA, IDS, GUSB, ARSH, ARSA
3	sly syndrome	30.7	IDUA, GUSB
4	beta-mannosidosis	30.6	MANBA, NAGA, SGSH
5	gangliosidosis	30.4	NEU1
6	mucopolysaccharidosis iv	30.4	GUSB, ARSH, NEU1
7	mucopolysaccharidosis iii	30.4	ARSH, SGSH
8	gangliosidosis gm1	30.4	ARSA, NEU1, GLA
9	mucolipidosis	30.4	NEU1, NAGA
10	mucolipidosis ii	30.2	M6PR, GUSB, ARSH, NEU1, FUCA1, SMPD1
11	leukodystrophy	30.1	ARSH
12	mucopolysaccharidosis ii	30.1	IDS
13	mucopolysaccharidosis vi	30.1	ARSH, ARSA
14	metachromatic leukodystrophy	30.1	ARSH, ARSA, GLA
15	acid sphingomyelinase deficiency	30.1	SMPD1
16	glycogen storage disease ii	30.1	IDUA, M6PR
17	fabry disease	30.1	CHIT1, GLA, GBA, NAGA, FUCA1, ARSA
18	krabbe disease	30.1	ARSA, CHIT1
19	brain disease	10.5
20	niemann-pick disease	10.5
21	aspartylglucosaminuria	10.4
22	neuronitis	10.4
23	central nervous system disease	10.4
24	nervous system disease	10.4
25	intestinal disease	10.3
26	liver disease	10.3
27	alpha-mannosidosis	10.3
28	cystinosis	10.3
29	retinal disease	10.3
30	retinitis	10.3
31	neurologic diseases	10.3
32	galactosialidosis	10.3
33	neuronal ceroid-lipofuscinoses	10.1
34	corneal disease	10.1
35	cholesterol ester storage disease	10.1
36	chediak-higashi syndrome	10.1
37	osteopetrosis	10.1
38	sandhoff disease	10.1
39	sialuria	10.1
40	infertility	10.1
41	lipoid proteinosis	10.1
42	pycnodysostosis	10.1
43	batten disease	10.1
44	amyloidosis	10.1
45	aortic disease	10.1
46	bone remodeling disease	10.1
47	collagen disease	10.1
48	gonadal disease	10.1
49	lipid storage disease	10.1
50	mitral valve disease	10.1

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

Clinical Features for Lysosomal Storage Disease

Drugs & Therapeutics for Lysosomal Storage Disease

Sources:
⁵CenterWatch, ⁴¹NIH Clinical Center, ⁶ClinicalTrials, ³⁰LifeMap Discovery™, ⁶⁰UMLS, ⁴⁰NDF-RT
See all sources

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:

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

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

³²

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

Animal Models for Lysosomal Storage Disease or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

³⁶ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	liver/biliary system phenotype	MP:0005370	10.1	AGA, GLA, NEU1, IDUA, GBA, SGSH
2	integument phenotype	MP:0010771	10.1	AGA, MCOLN1, GUSB, SGSH, NEU1, IDS
3	skeleton phenotype	MP:0005390	10.1	IDUA, CTNS, SGSH, GBA, NEU1, GUSB
4	vision/eye phenotype	MP:0005391	10.0	IDS, CTNS, NEU1, MCOLN1, SGSH, IDUA
5	renal/urinary system phenotype	MP:0005367	10.0	SGSH, MANBA, GUSB, IDUA, CTNS, NEU1
6	hematopoietic system phenotype	MP:0005397	9.9	GUSB, IDUA, ARSA, NEU1, MANBA, GBA
7	immune system phenotype	MP:0005387	9.9	IDUA, IDS, NEU1, CHIT1, MANBA, GLA
8	nervous system phenotype	MP:0003631	9.9	IDUA, SGSH, GBA, MCOLN1, MANBA, AGA
9	cellular phenotype	MP:0005384	9.8	GUSB, NEU1, AGA, IDUA, CTNS, IDS
10	homeostasis/metabolism phenotype	MP:0005376	9.7	SMPD1, NAGA, GBA, MCOLN1, AGA, NEU1
11	growth/size phenotype	MP:0005378	9.7	IDUA, M6PR, IDS, GUSB, NEU1, AGA
12	behavior/neurological phenotype	MP:0005386	9.7	AGA, GLA, MANBA, MCOLN1, GBA, M6PR
13	mortality/aging	MP:0010768	9.5	IDUA, GBA, SGSH, SMPD1, M6PR, IDS

Publications for Lysosomal Storage Disease

Sources:
⁵⁰PubMed
See all sources

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 258)

id	Title	Authors	Year
1	New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. (24432014)	Piomboni P.... Luddi A.	2014
2	Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)	Al-Haggar M.	2013
3	Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. (24038957)	Larkin H.... Lavoie C.	2013
4	Niemann-Pick C disease: not your average lysosomal storage disease. (21205672)	Kaye E.M.	2011
5	Lysosomal storage disease: revealing lysosomal function and physiology. (20430954)	Parkinson-Lawrence E.J.... Brooks D.A.	2010
6	Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)	Furlan F.H.... Gava A.	2009
7	Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy. (19324223)	Wynn R.F.... Bigger B.W.	2009
8	Biomarkers for lysosomal storage disorders: identification and application as exemplified by chitotriosidase in Gaucher disease. (18339181)	Aerts J.M.... de Koster C.G.	2008
9	A study on serum IgE and clinical symptomatology of atopy in patients suffering from the lysosomal storage disorder Fabry disease. (18384565)	MAPhrenschlager M.... Ring J.	2008
10	Rapid and effective screening for lysosomal storage disease: how close are we? (18824571)	Millington D.S.	2008
11	Partial restoration of mutant enzyme homeostasis in three distinct lysosomal storage disease cell lines by altering calcium homeostasis. (18254660)	Mu T.W.... Kelly J.W.	2008
12	Abnormalities in neural progenitor cells in a dog model of lysosomal storage disease. (17882020)	Walton R.M.... Wolfe J.H.	2007
13	Cellular pathophysiology of lysosomal storage diseases (21290703)	Mehta A.... Sunder-Plassmann G.	2006
14	Role of patient support groups in lysosomal storage diseases (21290682)	Mehta A.... Sunder-Plassmann G.	2006
15	Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. (16950870)	PoAt M.... Jentsch T.J.	2006
16	Therapeutic strategies to ameliorate lysosomal storage disorders--a focus on Gaucher disease. (16568247)	Sawkar A.R.... Kelly J.W.	2006
17	Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease). (16314482)	Koike M.... Uchiyama Y.	2005
18	Musculoskeletal complications associated with lysosomal storage disorders: Gaucher disease and Hurler-Scheie syndrome (mucopolysaccharidosis type I). (15604908)	Pastores G.M.... Meere P.A.	2005
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)	Shen J.S.... Eto Y.	2004
20	Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. (12633905)	Hesselink R.P.... Van der Vusse G.J.	2003
21	Lysosomal storage disease in Sida carpinifolia toxicosis: an induced mannosidosis in horses. (12875319)	Loretti A.P.... Driemeier D.	2003
22	Advances in the treatment of lysosomal storage disease. (11570635)	Wraith J.E.	2001
23	Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy. (11405346)	Platt F.M.... Zimran A.	2001
24	A lysosomal storage disease of Romney sheep that resembles human type 3 GM1 gangliosidosis. (11307621)	Ryder S.J.... Simmons M.M.	2001
25	Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)	Driemeier D.... Barros S.S.	2000
26	Treatment of a lysosomal storage disease, mucopolysaccharidosis VII, with microencapsulated recombinant cells. (11044913)	Ross C.J.... Chang P.L.	2000
27	Bone marrow-derived mesenchymal stem cells remain host-derived despite successful hematopoietic engraftment after allogeneic transplantation in patients with lysosomal and peroxisomal storage diseases. (10560915)	KoAs O.N.... Krivit W.	1999
28	Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)	Vogler C.... Sly W.S.	1998
29	The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II. (10206684)	Beesley C.E.... Yacoub M.Y.	1998
30	A unique familial leukodystrophy with adult onset dementia and abnormal glycolipid storage: a new lysosomal disease? (9703182)	Simon D.K.... Natowicz M.R.	1998
31	Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease. (9266381)	Bennett M.J.... Boustany R.M.	1997
32	A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. (9365051)	Gasche C.... Ferenci P.	1997
33	Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. (8747922)	Cohen-Tannoudji M.... Muggleton-Harris A.L.	1995
34	Medicinal therapy for lysosomal storage diseases]. (8577061)	Sakuragawa N.	1995
35	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)	Elleder M.... Palmer D.N.	1995
36	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)	Hermans M.M.P.... Reuser A.J.J.	1994
37	A histidine to tyrosine replacement in lysosomal acid lipase causes cholesteryl ester storage disease. (7833918)	Pagani F.... Maier J.A.	1994
38	Fibroblast expression of collagens and proteoglycans is altered in aspartylglucosaminuria, a lysosomal storage disease. (8312372)	MAoAottAo A.... Penttinen R.P.	1994
39	Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (8338934)	Vassal G.... Gluckman E.	1993
40	Inherited lysosomal storage disease in an English springer spaniel. (1559875)	Keller C.B.... LaMarre J.	1992
41	Quantitative correlation between the residual activity of beta-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease. (1348043)	Leinekugel P.... Sandhoff K.	1992
42	Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. (2010546)	Mancini G.M.... Verheijen F.W.	1991
43	Defective glucuronic acid transport from lysosomes of infantile free sialic acid storage disease fibroblasts. (2363700)	Blom H.J.... Gahl W.A.	1990
44	Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. (2564952)	Kanzaki T.... Hirabayashi Y.	1989
45	Extra heating of TLC plates detects two lysosomal storage diseases, aspartylglucosaminuria and fucosidosis, during routine urinary amino acid screening. (6627685)	Simell O.... Autio S.	1983
46	Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism. (6681560)	Renlund M.... Koskela S.L.	1983
47	Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease. (7462673)	Bauer E.A.... Eisen A.Z.	1981
48	GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. (404709)	Cork L.C.... Rattazzi M.C.	1977
49	Letter: Lysosomal storage disease in chihuahuas. (1191142)	Rac R.... Giesecke P.R.	1975
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)	Ginsel L.A.... van Gemund J.J.	1973

Genes related to Lysosomal Storage Disease

Sources:
¹⁷GeneCards, ⁴⁵Novus Biologicals, ³¹LifeSpan BioSciences, Inc.
See all sources

Genes related to Lysosomal Storage Disease:

(show top 50) (show all 58)

id	Symbol	Description	Score	Implication
1	AGA	aspartylglucosaminidase	20.21	GeneCards inferred : Publications, Disorders, Summaries (show sections)
2	SGSH	N-sulfoglucosamine sulfohydrolase	19.86	GeneCards inferred : Disorders, Summaries (show sections)
3	IDS	iduronate 2-sulfatase	19.52	GeneCards inferred : Disorders, Summaries (show sections)
4	FUCA1	fucosidase, alpha-L- 1, tissue	19.17	GeneCards inferred : Publications, Disorders, Summaries (show sections)
5	GBA	glucosidase, beta, acid	18.83	GeneCards inferred : Disorders, Summaries (show sections)
6	NEU1	sialidase 1 (lysosomal sialidase)	18.48	GeneCards inferred : Disorders, Summaries (show sections)
7	HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	18.13	GeneCards inferred : Disorders, Summaries (show sections)
8	MANBA	mannosidase, beta A, lysosomal	17.79	GeneCards inferred : Disorders, Summaries (show sections)
9	GUSB	glucuronidase, beta	17.42	GeneCards inferred : Publications, Disorders (show sections)
10	ARSH	arylsulfatase family, member H	17.08	GeneCards inferred : Publications, Disorders (show sections)
11	NAGA	N-acetylgalactosaminidase, alpha-	16.73	GeneCards inferred : Publications, Disorders (show sections)
12	SMPD1	sphingomyelin phosphodiesterase 1, acid lysosomal	16.39	GeneCards inferred : Publications, Disorders (show sections)
13	ARSA	arylsulfatase A	16.04	GeneCards inferred : Publications, Disorders (show sections)
14	IDUA	iduronidase, alpha-L-	15.70	GeneCards inferred : Publications, Disorders (show sections)
15	MCOLN1	mucolipin 1	15.35	GeneCards inferred : Disorders (show sections)
16	GLA	galactosidase, alpha	15.01	GeneCards inferred : Disorders (show sections)
17	CHIT1	chitinase 1 (chitotriosidase)	14.67	GeneCards inferred : Disorders (show sections)
18	CTNS	cystinosin, lysosomal cystine transporter	14.32	GeneCards inferred : Disorders (show sections)
19	SLC44A4	solute carrier family 44, member 4	14.00	GeneCards inferred : Disorders, Summaries (show sections)
20	M6PR	mannose-6-phosphate receptor (cation dependent)	13.63	GeneCards inferred : Publications, Disorders (show sections)
21	ADPRH	ADP-ribosylarginine hydrolase	13.29	GeneCards inferred : Disorders (show sections)
22	GAA	glucosidase, alpha; acid	12.94	GeneCards inferred : Publications, Disorders (show sections)
23	GALC	galactosylceramidase	12.60	GeneCards inferred : Publications, Disorders (show sections)
24	HEXA	hexosaminidase A (alpha polypeptide)	12.25	GeneCards inferred : Publications, Disorders (show sections)
25	PPT1	palmitoyl-protein thioesterase 1	11.91	GeneCards inferred : Publications, Disorders (show sections)
26	TPP1	tripeptidyl peptidase I	11.56	GeneCards inferred : Publications, Disorders (show sections)
27	CLN3	ceroid-lipofuscinosis, neuronal 3	11.22	GeneCards inferred : Publications, Disorders (show sections)
28	NAGLU	N-acetylglucosaminidase, alpha	10.87	GeneCards inferred : Publications, Disorders (show sections)
29	SUMF1	sulfatase modifying factor 1	10.53	GeneCards inferred : Publications, Disorders (show sections)
30	HEXB	hexosaminidase B (beta polypeptide)	10.18	GeneCards inferred : Disorders (show sections)
31	NPC1	Niemann-Pick disease, type C1	9.84	GeneCards inferred : Disorders (show sections)
32	LIPA	lipase A, lysosomal acid, cholesterol esterase	9.49	GeneCards inferred : Disorders (show sections)
33	CTSA	cathepsin A	9.15	GeneCards inferred : Disorders (show sections)
34	GALNS	galactosamine (N-acetyl)-6-sulfate sulfatase	8.80	GeneCards inferred : Disorders (show sections)
35	PSAP	prosaposin	8.46	GeneCards inferred : Publications, Disorders (show sections)
36	CTSD	cathepsin D	8.11	GeneCards inferred : Disorders (show sections)
37	GLB1	galactosidase, beta 1	7.77	GeneCards inferred : Disorders (show sections)
38	CTSB	cathepsin B	7.42	GeneCards inferred : Disorders (show sections)
39	ARSB	arylsulfatase B	7.08	GeneCards inferred : Disorders (show sections)
40	CLN5	ceroid-lipofuscinosis, neuronal 5	6.73	GeneCards inferred : Publications, Disorders (show sections)
41	CLN6	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	6.38	GeneCards inferred : Publications, Disorders (show sections)
42	MRC1	mannose receptor, C type 1	6.04	GeneCards inferred : Publications, Disorders (show sections)
43	SV2A	synaptic vesicle glycoprotein 2A	5.69	GeneCards inferred : Publications, Disorders (show sections)
44	HYAL1	hyaluronoglucosaminidase 1	5.35	GeneCards inferred : Disorders (show sections)
45	CLN8	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	5.00	GeneCards inferred : Disorders (show sections)
46	CLCN7	chloride channel, voltage-sensitive 7	4.66	GeneCards inferred : Publications, Disorders (show sections)
47	CLCN6	chloride channel, voltage-sensitive 6	4.31	GeneCards inferred : Publications, Disorders (show sections)
48	GNS	glucosamine (N-acetyl)-6-sulfatase	3.97	GeneCards inferred : Disorders (show sections)
49	DNAJC5	DnaJ (Hsp40) homolog, subfamily C, member 5	3.62	GeneCards inferred : Disorders (show sections)
50	MAN2B1	mannosidase, alpha, class 2B, member 1	3.28	GeneCards inferred : Disorders (show sections)

Products for genes related to Lysosomal Storage Disease disease:

id	Company	Proteins	Lysates	Antibodies
1	Novus Biologicals	48	48	48
2	LSBio	-	-	50

Genetic Variations for Lysosomal Storage Disease

Expression for genes affiliated with Lysosomal Storage Disease

Sources:
¹BioGPS, ¹⁵Gene Expression Omnibus DataSets
See all sources

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:
⁵³Reactome, ²⁹KEGG
See all sources

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

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	CS/DS degradation⁵³	10.3	IDUA, IDS
2	Glycosphingolipid biosynthesis - globo series²⁹	10.3	GLA, NAGA
3	Disease⁵³	10.3	IDUA, IDS, HGSNAT
4	Other glycan degradation²⁹	10.2	FUCA1, NEU1, GBA, AGA, MANBA
5	MPS IIIC - Sanfilippo syndrome C⁵³ Hide members MPS VI - Maroteaux-Lamy syndrome⁵³ Mucopolysaccharidoses⁵³ MPS IIIB - Sanfilippo syndrome B⁵³ MPS IX - Natowicz syndrome⁵³ MPS I - Hurler syndrome⁵³ MPS II - Hunter syndrome⁵³ MPS IIID - Sanfilippo syndrome D⁵³ MPS IV - Morquio syndrome A⁵³ Glycosaminoglycan metabolism⁵³ MPS IIIA - Sanfilippo syndrome A⁵³ MPS IV - Morquio syndrome B⁵³ Metabolism of carbohydrates⁵³ MPS VII - Sly syndrome⁵³	10.1	IDS, GUSB, IDUA, HGSNAT, SGSH
6	Heparan sulfate/heparin (HS-GAG) metabolism⁵³ Hide members HS-GAG degradation⁵³	10.1	IDS, HGSNAT, IDUA, GUSB, SGSH
7	Glycosaminoglycan degradation²⁹	10.1	SGSH, IDS, IDUA, HGSNAT, GUSB
8	Sphingolipid metabolism²⁹ Hide members Sphingolipid metabolism⁵³ Glycosphingolipid metabolism⁵³	10.0	ARSA, NEU1, GBA, SMPD1, GLA, ARSH
9	Metabolism⁵³ Hide members Metabolism of lipids and lipoproteins⁵³ Metabolic pathways²⁹	9.9	HGSNAT, GUSB, ARSH, ARSA, NEU1, GLA
10	Lysosome²⁹	9.2	GBA, GLA, MANBA, AGA, NEU1, ARSA

Compounds for genes affiliated with Lysosomal Storage Disease

Sources:
⁴⁴Novoseek, ²⁴HMDB, ¹¹DrugBank, ⁵⁹Tocris Bioscience, ⁴⁹PharmGKB, ²⁸IUPHAR
See all sources

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

(show all 50)

id	Compound	Score	Top Affiliating Genes
1	p-nitrocatechol sulfate⁴⁴	10.7	ARSH, ARSA
2	formylglycine⁴⁴	10.7	ARSA, ARSH
3	p-cresol⁴⁴	10.7	GUSB, ARSH
4	n-acetylgalactosamine 6-sulfate⁴⁴	10.7	ARSA, ARSH
5	dermatan⁴⁴ ²⁴	11.7	GUSB, IDS, IDUA
6	sulfatide⁴⁴	10.7	ARSH, ARSA, NEU1
7	cerebroside⁴⁴	10.7	GLA, ARSA, ARSH
8	bifidobacterium⁴⁴	10.7	GLA, GUSB
9	glycosphingolipid⁴⁴	10.7	GBA, GLA, ARSA
10	miglustat⁴⁴ ¹¹	11.7	GBA, CHIT1
11	gal(beta1-3)galnac⁴⁴	10.6	NEU1, NAGA
12	percoll⁴⁴	10.6	FUCA1, GBA, M6PR
13	glutaraldehyde⁴⁴	10.6	NEU1, GLA, FUCA1
14	1-deoxynojirimycin⁴⁴ ⁵⁹ ¹¹	12.6	FUCA1, GBA, GLA, NEU1
15	4-methylumbelliferone⁴⁴	10.6	GUSB, NEU1
16	mucopolysaccharide⁴⁴	10.6	IDUA, IDS, ARSH, ARSA
17	glycolipid⁴⁴	10.6	NEU1, GLA, GBA, NAGA
18	dermatan sulfate⁴⁴	10.6	IDUA, IDS, GUSB
19	periodate⁴⁴	10.6	NAGA, NEU1
20	chitin⁴⁴ ²⁴	11.6	CHIT1, GLA
21	monensin⁴⁴	10.6	SMPD1, GLA, M6PR
22	asparagine⁴⁴	10.6	M6PR, ARSA, AGA, GBA
23	glucosylceramide⁴⁴ ²⁴	11.6	CHIT1, GLA, GBA, SMPD1
24	iduronic acid⁴⁴ ²⁴	11.6	IDS, IDUA
25	sialic acid⁴⁴	10.6	CTNS, ARSH, NEU1, FUCA1
26	castanospermine⁴⁴	10.6	GBA, NEU1
27	daunorubicin⁴⁴ ⁴⁹ ¹¹	12.6	NEU1, GUSB, IDUA
28	sulfate⁴⁴ ²⁴	11.5	IDUA, IDS, GUSB, ARSH, ARSA
29	ceramide⁴⁴	10.5	SMPD1, GBA, GLA, ARSA
30	glycosaminoglycan⁴⁴	10.5	IDUA, IDS, GUSB, ARSH, ARSA, SGSH
31	n-acetylglucosamine⁴⁴	10.5	ARSA, NEU1, AGA, CHIT1, NAGA, FUCA1
32	lactosylceramide⁴⁴	10.5	GBA, GLA
33	hydrogen⁴⁴ ²⁴	11.5	ARSH, ARSA, AGA, GLA, GBA
34	ganglioside⁴⁴	10.5	IDUA, ARSA, NEU1, GLA, FUCA1, SMPD1
35	galactose⁴⁴	10.5	NEU1, GLA, GBA
36	aspartate⁴⁴	10.4	GUSB, ARSA, AGA, GLA, SMPD1
37	methionine⁴⁴	10.4	ARSA, GLA, FUCA1, SMPD1
38	heparan sulfate⁴⁴ ²⁴	11.4	M6PR, HGSNAT, IDUA, IDS, ARSH, ARSA
39	bisphenol a⁴⁴	10.4	GUSB, ARSH
40	ether⁴⁴	10.3	GUSB, ARSH
41	cysteine⁴⁴	10.3	M6PR, IDS, ARSH, ARSA, NEU1, AGA
42	polysaccharide⁴⁴	10.3	M6PR, IDUA, ARSA, NEU1, CHIT1, MANBA
43	daidzein⁴⁴	10.2	GUSB, ARSH
44	lipid⁴⁴	10.2	M6PR, ARSH, ARSA, CHIT1, GLA, MCOLN1
45	mannose 6-phosphate⁴⁴ ²⁴	11.2	SMPD1, M6PR, FUCA1, GBA, GLA, AGA
46	mannose⁴⁴	10.2	GBA, GLA, MANBA, CHIT1, NEU1, ARSA
47	serine⁴⁴	10.1	M6PR, ARSH, ARSA, NEU1, GLA, GBA
48	arginine⁴⁴	10.1	SMPD1, GLA, ARSH, IDUA, M6PR
49	triamcinolone acetonide⁴⁴ ²⁸	11.0	NEU1, SMPD1
50	calcium⁴⁴ ⁴⁹ ¹¹ ²⁴	13.0	IDS, 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:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal membrane	GO:005765	10.0	HGSNAT, CTNS, NEU1, MCOLN1, GBA, M6PR
2	lysosomal lumen	GO:043202	9.7	SMPD1, IDUA, IDS, GUSB, ARSA, NEU1
3	lysosome	GO:005764	9.5	CTNS, ARSA, NEU1, AGA, CHIT1, MANBA

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

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	glycosylceramide catabolic process	GO:046477	10.5	GLA, NAGA
2	termination of signal transduction	GO:023021	10.4	GBA, SMPD1
3	glycoside catabolic process	GO:016139	10.4	NAGA, GLA
4	glycosaminoglycan catabolic process	GO:006027	10.4	FUCA1, SGSH, GUSB, IDS, IDUA, HGSNAT
5	positive regulation of protein dephosphorylation	GO:035307	10.3	GBA, SMPD1
6	ceramide biosynthetic process	GO:046513	10.3	SMPD1, GBA
7	glycosaminoglycan metabolic process	GO:030203	10.3	HGSNAT, IDUA, IDS, GUSB, SGSH
8	glycosphingolipid metabolic process	GO:006687	10.3	ARSH, ARSA, NEU1, GLA, GBA, SMPD1
9	sphingolipid metabolic process	GO:006665	10.3	ARSH, ARSA, NEU1, GLA, GBA, SMPD1
10	chondroitin sulfate catabolic process	GO:030207	10.2	IDUA, IDS
11	carbohydrate metabolic process	GO:005975	10.2	HGSNAT, IDUA, IDS, GUSB, MANBA, GBA
12	oligosaccharide metabolic process	GO:009311	10.0	GLA, NAGA
13	small molecule metabolic process	GO:044281	9.8	HGSNAT, IDUA, IDS, GUSB, ARSH, ARSA

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

id	Name	GO ID	Score	Top Affiliating Genes
1	alpha-galactosidase activity	GO:004557	10.3	NAGA, GLA
2	mannose binding	GO:005537	10.3	MANBA, M6PR
3	sulfuric ester hydrolase activity	GO:008484	10.2	SGSH, ARSA
4	arylsulfatase activity	GO:004065	10.0	ARSA, ARSH