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

MCID: LYS002 MIFTS: 56	Lysosomal Storage Disease Categories: Metabolic diseases
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Aliases & Classifications for Lysosomal Storage Disease

MalaCards integrated aliases for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease ³⁷ ¹² ⁷² ¹⁴

Lysosomal Storage Diseases ³⁶ ⁵¹ ⁴¹ ⁶⁹

Lysosomal Storage Metabolism Disorder ¹²

Inborn Lysosomal Enzyme Disorder ¹²

Disorder of Lysosomal Enzyme ¹²

Classifications:

MalaCards categories:
Global: Metabolic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:3211

MeSH ⁴¹ D016464

NCIt ⁴⁶ C61250

SNOMED-CT ⁶⁴ 23585005

KEGG ³⁶ H01425

UMLS ⁶⁹ C0085078

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Summaries for Lysosomal Storage Disease

Disease Ontology : ¹² 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 galactosialidosis. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Lysosome and Metabolism. The drugs Cysteamine and Cyclophosphamide have been mentioned in the context of this disorder. Affiliated tissues include bone, liver and brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : ⁷² Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of about 50 rare inherited metabolic... more...

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Related Diseases for Lysosomal Storage Disease

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

(show top 50) (show all 103)

#	Related Disease	Score	Top Affiliating Genes
1	fucosidosis	32.9	AGA CTSA FUCA1 GAA HEXA
2	galactosialidosis	32.7	CTSA NEU1
3	mucopolysaccharidosis, type vii	32.6	GUSB HEXA IDUA MANBA
4	aspartylglucosaminuria	32.5	AGA CTSA GAA
5	mucopolysaccharidosis, type iiia	32.4	NAGLU SGSH
6	glycoproteinosis	32.2	CTSA NEU1
7	mannosidosis, beta a, lysosomal	32.1	CTSA GAA HEXA MAN2B1 MANBA
8	mucolipidosis ii alpha/beta	32.1	FUCA1 GUSB NEU1
9	mannosidosis, alpha b, lysosomal	32.0	CTSA GAA HEXA MAN2B1 MANBA
10	mucopolysaccharidosis-plus syndrome	32.0	ARSB GUSB HEXA IDS IDUA NAGLU
11	mucolipidosis iii alpha/beta	31.9	FUCA1 GUSB
12	inclusion-cell disease	31.8	ARSA CTSA
13	tay-sachs disease	31.7	ARSA CTSA HEXA NEU1
14	metachromatic leukodystrophy	31.6	ARSA ARSB HEXA
15	mucopolysaccharidosis, type ii	31.6	ARSA GAA IDS
16	mucopolysaccharidosis type vi	31.5	ARSA ARSB
17	lipid storage disease	31.4	ARSA CLN3 GBA HEXA TPP1
18	scheie syndrome	31.2	CTSA GAA HEXA IDUA NAGLU
19	mannosidosis	30.9	MAN2B1 MANBA SGSH
20	immune hydrops fetalis	30.5	GBA GUSB
21	neuraminidase deficiency	11.4
22	cystinosis	11.4
23	gm1-gangliosidosis, type i	11.4
24	ceroid lipofuscinosis, neuronal, 3	11.3
25	ceroid lipofuscinosis, neuronal, 1	11.3
26	ceroid lipofuscinosis, neuronal, 5	11.3
27	mucopolysaccharidosis, type iiic	11.2
28	mucopolysaccharidosis, type iiid	11.2
29	mucopolysaccharidosis, type iiib	11.1
30	mucopolysaccharidosis, type iva	11.1
31	ceroid lipofuscinosis, neuronal, 4b, autosomal dominant	10.9
32	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	10.9
33	ceroid lipofuscinosis, neuronal, 2	10.9
34	cystinosis, adult nonnephropathic	10.9
35	cystinosis, nephropathic	10.9
36	cystinosis, late-onset juvenile or adolescent nephropathic type	10.9
37	farber lipogranulomatosis	10.9
38	gm1-gangliosidosis, type ii	10.9
39	gaucher disease, type i	10.9
40	glycogen storage disease ii	10.9
41	glycoprotein storage disease	10.9
42	mucopolysaccharidosis, type ivb	10.9
43	niemann-pick disease, type c1	10.9
44	pycnodysostosis	10.9
45	sandhoff disease	10.9
46	infantile sialic acid storage disease	10.9
47	sialuria	10.9
48	gm2-gangliosidosis, ab variant	10.9
49	ceroid lipofuscinosis, neuronal, 8	10.9
50	mucopolysaccharidosis, type ix	10.9

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

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Symptoms & Phenotypes for Lysosomal Storage Disease

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

⁴³ (show all 17)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.54	HEXA GBA HGSNAT GUSB IDS GAA
2	cellular	MP:0005384	10.48	GBA HGSNAT GUSB IDS GAA CLN3
3	homeostasis/metabolism	MP:0005376	10.38	GAA HEXA GBA HGSNAT GUSB CLN3
4	growth/size/body region	MP:0005378	10.34	GAA HEXA GBA GUSB CTSA AGA
5	hematopoietic system	MP:0005397	10.31	GBA HGSNAT GUSB CLN3 ARSA ARSB
6	cardiovascular system	MP:0005385	10.3	GAA GBA HGSNAT ARSB CTSA NAGLU
7	immune system	MP:0005387	10.23	GBA HGSNAT CTSA CLN3 ARSA IDUA
8	liver/biliary system	MP:0005370	10.18	HEXA GBA HGSNAT CLN3 AGA CTSA
9	mortality/aging	MP:0010768	10.18	HEXA GBA HGSNAT CTSA GUSB AGA
10	craniofacial	MP:0005382	10.14	HEXA GUSB ARSB CTSA NAGLU IDS
11	integument	MP:0010771	10.13	GBA GUSB AGA CTSA NAGLU IDS
12	nervous system	MP:0003631	10.13	HEXA GBA HGSNAT IDS CLN3 AGA
13	hearing/vestibular/ear	MP:0005377	10.05	HEXA GUSB ARSB ARSA MAN2B1 IDUA
14	renal/urinary system	MP:0005367	10	HEXA HGSNAT GUSB CLN3 AGA CTNS
15	muscle	MP:0005369	9.87	GAA ARSB CTNS IDUA MAN2B1 TPP1
16	skeleton	MP:0005390	9.73	GAA HEXA GBA GUSB IDS CTNS
17	vision/eye	MP:0005391	9.32	HEXA CLN3 CTNS ARSB NAGLU IDS

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Drugs & Therapeutics for Lysosomal Storage Disease

Drugs for Lysosomal Storage Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 215)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cysteamine

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

60-23-1

6058

Cyclophosphamide

Approved, Investigational

Phase 4,Phase 2,Phase 3

50-18-0, 6055-19-2

2907

Acetylcysteine

Approved, Investigational

Phase 4,Phase 1,Phase 2

616-91-1

12035

Methotrexate

Approved

Phase 4

1959-05-2, 59-05-2

126941

rituximab

Approved

Phase 4,Phase 2,Phase 1

174722-31-7

10201696

Miglustat

Approved

Phase 4,Phase 3,Phase 2,Phase 1

72599-27-0

51634

Bortezomib

Approved, Investigational

Phase 4

179324-69-7

387447 93860

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 1,Phase 2

59-30-3

6037

leucovorin

Approved, Nutraceutical

Phase 4,Phase 1,Phase 2

58-05-9

143 6006

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2

1406-16-2

1-Deoxynojirimycin

Experimental

Phase 4,Phase 3,Phase 2,Phase 1

19130-96-2

1374

Immunosuppressive Agents

Phase 4,Phase 2,Phase 3,Phase 1

Pharmaceutical Solutions

Phase 4,Phase 2,Phase 3,Phase 1

Antidotes

Phase 4,Phase 1,Phase 2

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antioxidants

Phase 4,Phase 1,Phase 2

Antiviral Agents

Phase 4,Phase 3,Phase 2,Phase 1

Expectorants

Phase 4,Phase 1,Phase 2

N-monoacetylcystine

Phase 4,Phase 1,Phase 2

Protective Agents

Phase 4,Phase 1,Phase 2

Respiratory System Agents

Phase 4,Phase 1,Phase 2

Adrenergic Agents

Phase 4,Phase 2,Phase 1

Adrenergic Agonists

Phase 4,Phase 1,Phase 2

Adrenergic beta-2 Receptor Agonists

Phase 4,Phase 1,Phase 2

Adrenergic beta-Agonists

Phase 4,Phase 1,Phase 2

Albuterol

Phase 4,Phase 1,Phase 2

Anti-Asthmatic Agents

Phase 4,Phase 1,Phase 2

Autonomic Agents

Phase 4,Phase 2,Phase 1

Bronchodilator Agents

Phase 4,Phase 1,Phase 2

Neurotransmitter Agents

Phase 4,Phase 2,Phase 1,Early Phase 1

Peripheral Nervous System Agents

Phase 4,Phase 2,Phase 1,Early Phase 1

Tocolytic Agents

Phase 4,Phase 1,Phase 2

Antimetabolites

Phase 4,Phase 2,Phase 1

Antimetabolites, Antineoplastic

Phase 4,Phase 2,Phase 1

Antirheumatic Agents

Phase 4,Phase 2,Phase 3,Phase 1

Dermatologic Agents

Phase 4,Phase 2,Phase 1,Early Phase 1

Folic Acid Antagonists

Phase 4,Phase 1,Phase 2

Nucleic Acid Synthesis Inhibitors

Phase 4,Phase 2

Vitamin B Complex

Phase 4,Phase 1,Phase 2

Antibodies

Phase 4,Phase 1,Phase 2

Immunoglobulins

Phase 4,Phase 1,Phase 2

Bone Density Conservation Agents

Phase 4,Phase 2

Micronutrients

Phase 4,Phase 2

Trace Elements

Phase 4,Phase 2

Vitamins

Phase 4,Phase 2

Anti-HIV Agents

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Retroviral Agents

Phase 4,Phase 3,Phase 2,Phase 1

Cardiac Glycosides

Phase 4,Phase 3,Phase 2,Phase 1

Glycoside Hydrolase Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1

Hypoglycemic Agents

Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 571)

#	Name	Status	NCT ID	Phase	Drugs
1	CPAP for Infantile Pompe Disease	Unknown status	NCT02405624	Phase 4
2	Evaluation of Efficacy and Safety of Agalsidase Beta in Heterozygous Females for Fabry Disease	Unknown status	NCT00487630	Phase 4	recombinant alpha-galactosidase A
3	Safety and Clinical Outcomes in Hunter Syndrome Patients 5 Years of Age and Younger Receiving Idursulfase Therapy	Completed	NCT00607386	Phase 4
4	Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher Disease	Completed	NCT00364858	Phase 4	Cerezyme
5	N Acetyl Cysteine for Cystinosis Patients	Completed	NCT01614431	Phase 4	N acetyl cysteine;N acetyl cysteine
6	Evaluation of Salbutamol as an Adjuvant Therapy for Pompe Disease	Completed	NCT02405598	Phase 4	Salbutamol
7	Ophthalmic Findings During 10-year Enzyme Substitution of Danish Fabry Patients.	Completed	NCT01997489	Phase 4	Enzyme replacement
8	A Study Evaluating Glycosphingolipid Clearance in Patients Treated With Agalsidase Alfa Who Switch to Agalsidase Beta	Completed	NCT01650779	Phase 4
9	Exploratory Muscle Biopsy Assessment Study in Patients With Late-Onset Pompe Disease Treated With Alglucosidase Alfa	Completed	NCT01288027	Phase 4
10	A Safety and Efficacy Study of Two Dose Levels of Taliglucerase Alfa in Pediatric Subjects With Gaucher Disease	Completed	NCT01132690	Phase 4	Taliglucerase alfa
11	An Exploratory Study of the Safety and Efficacy of Prophylactic Immunomodulatory Treatment in Myozyme-naive Cross-Reacting Immunologic Material (CRIM[-]) Patients With Infantile-Onset Pompe Disease	Completed	NCT00701129	Phase 4	Methotrexate;Rituximab
12	High Dose or High Dose Frequency Study of Alglucosidase Alfa	Completed	NCT00483379	Phase 4
13	Late-Onset Treatment Study Extension Protocol	Completed	NCT00455195	Phase 4
14	A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.	Completed	NCT00365131	Phase 4	Cerezyme (imiglucerase for injection)
15	A Long Term Safety and Efficacy Study of Fabrazyme Replacement Therapy in Japanese Patients With Fabry Disease.	Completed	NCT00233870	Phase 4	Agalsidase beta (recombinant form)
16	A Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease	Completed	NCT00140621	Phase 4	Agalsidase beta
17	Replagal Enzyme Replacement Therapy for Adults With Fabry Disease	Completed	NCT00097890	Phase 4	Replagal (Agalsidase Alfa);Replagal
18	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease	Completed	NCT00081497	Phase 4
19	A Study of the Safety and Efficacy of Fabrazyme (Agalsidase Beta) as Compared to Placebo in Patients With Advanced Fabry Disease	Completed	NCT00074984	Phase 4
20	A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI	Completed	NCT00299000	Phase 4	Naglazyme
21	A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease	Completed	NCT00144781	Phase 4
22	A Study Investigating the Relationship Between the Development of Laronidase Antibody and Urinary GAG (Glycosaminoglycan) Levels in Aldurazyme® Treated Patients	Completed	NCT00144768	Phase 4	laronidase
23	Study of the Effects of Fabrazyme Treatment on Lactation and Infants	Recruiting	NCT00230607	Phase 4	agalsidase beta
24	Use of Cysteamine in the Treatment of Cystinosis	Recruiting	NCT00359684	Phase 4	Cysteamine
25	Immune Modulation Therapy for Pompe Disease	Recruiting	NCT02525172	Phase 4	Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
26	Phase 4 Study to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 Years	Recruiting	NCT02574286	Phase 4	Velaglucerase alfa
27	Synergistic Enteral Regimen for Treatment of the Gangliosidoses	Recruiting	NCT02030015	Phase 4	miglustat
28	Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease	Recruiting	NCT01410890	Phase 4
29	Immune Tolerance Induction Study	Recruiting	NCT00701701	Phase 4
30	Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age	Recruiting	NCT02455622	Phase 4	Elaprase for intravenous (IV) infusion
31	A Study of the Effect of Aldurazyme® (Laronidase) Treatment on Lactation in Female Patients With Mucopolysaccharidosis I (MPS I) and Their Breastfed Infants	Recruiting	NCT00418821	Phase 4
32	Growth and Development Study of Alglucosidase Alfa.	Active, not recruiting	NCT00486889	Phase 4
33	Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease	Not yet recruiting	NCT03021941	Phase 4	Elelyso 60 units/kg
34	A Noninferiority Study of Alglucosidase Alfa Manufactured at the 160 L and 4000 L Scales in Treatment Naïve Patients With Infantile-Onset Pompe Disease	Terminated	NCT01597596	Phase 4
35	A Study to Evaluate the Efficacy and Safety of Alglucosidase Alfa Produced at the 4000 L Scale for Pompe Disease	Terminated	NCT01526785	Phase 4	Alglucosidase alfa
36	Morquio's Syndrome: a Case Study	Terminated	NCT00609440	Phase 4
37	The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease	Withdrawn	NCT02528617	Phase 4	Velaglucerase alfa
38	A Study in Patients With Fabry Disease Who Are on Chronic Hemodialysis Therapy for Treatment of End-stage Renal Insufficiency.	Withdrawn	NCT00312767	Phase 4	Fabrazyme (agalsidase beta)
39	Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis	Unknown status	NCT01238328	Phase 2, Phase 3	Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
40	BMN 110 Phase 3B in Australian Patients	Unknown status	NCT01966029	Phase 3	BMN 110
41	Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase	Completed	NCT00630747	Phase 2, Phase 3
42	A Phase III Trial to Assess the Safety and Efficacy of Plant Cell Expressed GCD in Patients With Gaucher Disease	Completed	NCT00376168	Phase 3	Plant cell expressed recombinant glucocerebrosidase (prGCD);Plant cell expressed recombinant glucocerebrosidase (prGCD)
43	Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial	Completed	NCT00705939	Phase 3	Taliglucerase alfa
44	Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease	Completed	NCT00553631	Phase 3
45	Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase	Completed	NCT00478647	Phase 2, Phase 3
46	A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease	Completed	NCT00430625	Phase 3
47	Open-Label Phase 3 Long-Term Safety Study of Migalastat	Completed	NCT01458119	Phase 3	migalastat HCl 150mg
48	Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase	Completed	NCT00712348	Phase 3	Taliglucerase alfa
49	Study of Intrathecal Idursulfase-IT Administered in Conjunction With Elaprase® in Pediatric Patients With Hunter Syndrome and Early Cognitive Impairment	Completed	NCT02055118	Phase 2, Phase 3
50	A Phase 3 Study of UX003 Recombinant Human Betaglucuronidase (rhGUS) Enzyme Replacement Therapy in Patients With Mucopolysaccharidosis Type 7 (MPS 7)	Completed	NCT02230566	Phase 3	UX003

Search NIH Clinical Center for Lysosomal Storage Disease

Cell-based therapeutics:

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) PMIDs: 17882722
	Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD PMIDs: 9828244

Cochrane evidence based reviews: lysosomal storage diseases

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Genetic Tests for Lysosomal Storage Disease

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Anatomical Context for Lysosomal Storage Disease

MalaCards organs/tissues related to Lysosomal Storage Disease:

³⁸

Bone, Liver, Brain, Bone Marrow, Eye, Testes, Kidney

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Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 200)

#	Title	Authors	Year
1	Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. ( 29323117 )	Festa B.P....Luciani A.	2018
2	Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )	Lee J.S....Chae J.H.	2018
3	Swainsonine-induced lysosomal storage disease in goats caused by the ingestion of Sida rodrigoi Monteiro in North-western Argentina. ( 28093222 )	Micheloud J.F....Gimeno E.J.	2017
4	Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. ( 28266544 )	Bagh M.B....Mukherjee A.B.	2017
5	Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? ( 28377888 )	Politei J....Thurberg B.L.	2017
6	An improved purification method for the lysosomal storage disease protein I^-glucuronidase produced in CHO cells. ( 28734840 )	Fratz-Berilla E.J....Madhavarao C.N.	2017
7	Deleting the mouse Hsd17b1 gene results in a hypomorphic Naglu allele and a phenotype mimicking a lysosomal storage disease. ( 29180785 )	Jokela H....Poutanen M.	2017
8	Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry. ( 27238910 )	Elliott S....Scott C.R.	2016
9	A canine model for neuronal ceroid lipofuscinosis highlights the promise of gene therapy for lysosomal storage diseases. ( 27867988 )	Phillips J.E....Gomer R.H.	2016
10	The lysosomal storage disease continuum with ageing-related neurodegenerative disease. ( 27516378 )	Lloyd-Evans E....Haslett L.J.	2016
11	Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )	Fletcher J.L....Taylor R.M.	2016
12	Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )	Park S....Muallem S.	2016
13	Low-dose gene therapy reduces the frequency of enzyme replacement therapy in a mouse model of lysosomal storage disease. ( 27658524 )	Alliegro M....Auricchio A.	2016
14	Property of lysosomal storage disease associated with midbrain pathology in the central nervous system of Lamp-2-deficient mice. ( 25998250 )	Furuta A....Uchiyama Y.	2015
15	Lysosomal storage disease: gene therapy on both sides of the blood-brain barrier. ( 25410058 )	Aronovich E.L....Hackett P.B.	2015
16	Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease. ( 26085577 )	Hirst J....Robinson M.S.	2015
17	Suspected natural lysosomal storage disease from ingestion of pink morning glory (Ipomoea carnea) in goats in northern Argentina. ( 25728544 )	RA-os E.E....Teibler G.P.	2015
18	Lysosomal storage disease as an etiology of nonimmune hydrops. ( 25305402 )	Gimovsky A.C....Berghella V.	2015
19	MRI and MRS findings in fucosidosis; a rare lysosomal storage disease. ( 26515723 )	Ediz S.S....Alkan A.	2015
20	Lysosomal storage disease in the brain: mutations of the I^-mannosidase gene identified in autosomal dominant nystagmus. ( 25741867 )	Yu P....Qu J.	2015
21	Impairment of chaperone-mediated autophagy leads to selective lysosomal degradation defects in the lysosomal storage disease cystinosis. ( 25586965 )	Napolitano G....Catz S.D.	2015
22	New Players in the Infertility of a Mouse Model of Lysosomal Storage Disease: The Hypothalamus-Pituitary-Gonadal Axis. ( 24432014 )	Piomboni P....Luddi A.	2014
23	LAMP2 as a marker of EBV-mediated B lymphocyte transformation in the study of lysosomal storage diseases. ( 24068328 )	Mello A.S....Coelho J.C.	2014
24	Oligodendrocyte loss during the disease course in a canine model of the lysosomal storage disease fucosidosis. ( 24806306 )	Fletcher J.L....Taylor R.M.	2014
25	Similar therapeutic efficacy between a single administration of gene therapy and multiple administrations of recombinant enzyme in a mouse model of lysosomal storage disease. ( 24725025 )	Ferla R....Auricchio A.	2014
26	Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. ( 24787480 )	Michot J.M....Lambotte O.	2014
27	Reply-nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120156 )	Surmeli-Onay O....Korkmaz A.	2013
28	Nonimmune hydrops fetalis and lysosomal storage diseases. ( 24120157 )	Bellini C.	2013
29	Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. ( 24255892 )	Al-Haggar M.	2013
30	Topology and membrane anchoring of the lysosomal storage disease-related protein CLN5. ( 24038957 )	Larkin H....Lavoie C.	2013
31	A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease. ( 23850077 )	Rodriguez-Gil J.L....Pavan W.J.	2013
32	Amyloidosis, Synucleinopathy, and Prion Encephalopathy in a Neuropathic Lysosomal Storage Disease: The CNS-Biomarker Potential of Peripheral Blood. ( 24278249 )	Naughton B.J....Fu H.	2013
33	Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases. ( 24284886 )	Dugan R.B....Treadwell M.C.	2013
34	Dysregulation of gene expression in a lysosomal storage disease varies between brain regions implicating unexpected mechanisms of neuropathology. ( 22403656 )	Parente M.K....Wolfe J.H.	2012
35	Production of I+-L-iduronidase in maize for the potential treatment of a human lysosomal storage disease. ( 22990858 )	He X....Kermode A.R.	2012
36	GM130 gain-of-function induces cell pathology in a model of lysosomal storage disease. ( 22156940 )	Roy E....Heard J.M.	2012
37	Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases. ( 22991292 )	Barczykowski A.L....Carter R.L.	2012
38	Gene therapy approaches for lysosomal storage disease: next-generation treatment. ( 22794786 )	Byrne B.J....Mah C.S.	2012
39	Sialic acid deposition impairs the utility of AAV9, but not peptide-modified AAVs for brain gene therapy in a mouse model of lysosomal storage disease. ( 22588273 )	Chen Y.H....Davidson B.L.	2012
40	High proportion of mannosidosis and fucosidosis among lysosomal storage diseases in Cuba. ( 22911605 )	MenAcndez-Sainz C....Giugliani R.	2012
41	Biotherapeutic target or sink: analysis of the macrophage mannose receptor tissue distribution in murine models of lysosomal storage diseases. ( 21416197 )	Zhang X.S....Piepenhagen P.A.	2011
42	The preparation and storage of dried-blood spot quality control materials for lysosomal storage disease screening tests. ( 21382365 )	Adam B.W....Hannon W.H.	2011
43	Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts? ( 21421999 )	Hawkins-Salsbury J.A....Sands M.S.	2011
44	Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. ( 22216298 )	Geng H....Maegawa G.H.	2011
45	Digital microfluidic platform for multiplexing enzyme assays: implications for lysosomal storage disease screening in newborns. ( 21859904 )	Sista R.S....Pamula V.K.	2011
46	Invertebrate models of lysosomal storage disease: what have we learned so far? ( 22038288 )	Hindle S....Sweeney S.T.	2011
47	Niemann-Pick C disease: not your average lysosomal storage disease. ( 21205672 )	Kaye E.M.	2011
48	Severe lysosomal storage disease of liver in del(1)(p36): a new presentation. ( 21145995 )	Haimi M....Lerner A.	2011
49	Bilateral hip replacement in three patients with lysosomal storage disease: Mucopolysaccharidosis type IV and Mucolipidosis type III. ( 20130326 )	Lewis J.R....Gibson P.H.	2010
50	Lysosomal storage disease: revealing lysosomal function and physiology. ( 20430954 )	Parkinson-Lawrence E.J....Brooks D.A.	2010

Sources

Genes for Lysosomal Storage Disease

Genes related to Lysosomal Storage Disease (0 elite genes):

(show all 29)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Implication	PubmedIds
1	AGA	Aspartylglucosaminidase	Protein Coding	57.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Publications Summaries (show sections)	9930336 1577713 15365992 (more) 8322015 7881426 8776587 9425233 11418116 8054856 11309371 14616088 16518877 17157318 8457202 8312372 9137882 8586423
2	GBA	Glucosylceramidase Beta	Protein Coding	48.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Summaries (show sections)	8612670 16923570 18228684 (more) 19167257 9032656 9134434 11994410 12792654 16418594 19809509 8167352 11758671 14647734 12204005 12838552 17414023 18429048 19578116 1776640 8825806 9207436 10728820 9501269 12482401 15773351 17574891 8577064 11550412 11852732 17163678 19213078 9043866 16967369 7973467 10757640
3	IDS	Iduronate 2-Sulfatase	Protein Coding	45.6	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Summaries (show sections)	17217652 9337875 16480701 (more) 18331837 9024795 17063374 18618289 9442913
4	GUSB	Glucuronidase Beta	Protein Coding	45.57	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Publications (show sections)	12591953 8083358 9616735 (more) 9134434 16636519 10832732 12700165 8707294 11124056 12406886 10834616 11856642 11273777 8513128 11238101 7644479 12556933
5	SGSH	N-Sulfoglucosamine Sulfohydrolase	Protein Coding	45.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Summaries (show sections)	15146460
6	FUCA1	Alpha-L-Fucosidase 1	Protein Coding	44.49	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Summaries (show sections)	8401503 17427030 1281988 (more) 8399358 16008696 8504303 1873910 9039984
7	NAGLU	N-Acetyl-Alpha-Glucosaminidase	Protein Coding	42.1	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Publications (show sections)	19587708 19632871 17460717
8	NEU1	Neuraminidase 1	Protein Coding	42.07	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders Summaries (show sections)	19568825 9480870 11195014 (more) 18396002 9603439 19666471 12649068 15908988 11470272 8725271 12932252
9	IDUA	Iduronidase, Alpha-L-	Protein Coding	38.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	17718826 18479957 1339393 (more) 9134434 19844196 18654672 8527473 10356309 16435195 11159948 18613275
10	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	37.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	16092933 17557860 8875224 (more) 1424119 7973467 14727180
11	CLN3	CLN3, Battenin	Protein Coding	36.99	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	18314010
12	TPP1	Tripeptidyl Peptidase 1	Protein Coding	36.97	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	10470035 11445074 15158442 (more) 10762513 15582991 9989590
13	ARSB	Arylsulfatase B	Protein Coding	36.94	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	1904721 12904606 15930196 (more) 18502162 18486607 20152898 16647419 1550123 11802522 15895715 20385007 17672828
14	ARSA	Arylsulfatase A	Protein Coding	36.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	1348043 7860068 8542433 (more) 9090526 10822308 11850723 1687778 12296771 12503099 14680985 15772092 10381328 14682002 15710861 16678723 9007312 9759937 19699491 7902317 10697958 15709909 17093507 1968615 18339182 19864504 1684103 10751093
15	CTSA	Cathepsin A	Protein Coding	36.08	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	18396002 19097920 19666471 (more) 12649068 7503422 8725271 9636645
16	HGSNAT	Heparan-Alpha-Glucosaminide N-Acetyltransferase	Protein Coding	35.35	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
17	MAN2B1	Mannosidase Alpha Class 2B Member 1	Protein Coding	35.07	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
18	GAA	Glucosidase Alpha, Acid	Protein Coding	34.76	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	11949932 11991748 15668445 (more) 17924344 20225018 8575451 17826266 15515143
19	MANBA	Mannosidase Beta	Protein Coding	34.59	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
20	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	26.14	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	10571941 15500372 15365816
21	GLB1	Galactosidase Beta 1	Protein Coding	24.56	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	1946081 10338095
22	HEXB	Hexosaminidase Subunit Beta	Protein Coding	24.41	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	16092933 8162015 18772556
23	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	24.38	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Disorders (show sections)	16837223 19394256
24	GALC	Galactosylceramidase	Protein Coding	23.62	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	20410102 16352725
25	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	22.64	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹ GeneCards inferred via : Publications (show sections)	1618760 7600574
26	GLA	Galactosidase Alpha	Protein Coding	19.15	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹	16287034 8819626 15712228 (more) 16298216 17940933 19368525 15253767
27	MCOLN1	Mucolipin 1	Protein Coding	18.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹	15070744 10352940 19041749 (more) 17988215 18550655 17956286 19864416
28	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	17.53	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹	11589008 9648881
29	SUMF1	Sulfatase Modifying Factor 1	Protein Coding	17.28	DISEASES inferred ¹⁴ Novoseek inferred ⁵¹	14563551

Sources

Variations for Lysosomal Storage Disease

Sources

Expression for Lysosomal Storage Disease

Search GEO for disease gene expression data for Lysosomal Storage Disease.

Sources

Pathways for Lysosomal Storage Disease

Pathways related to Lysosomal Storage Disease according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Lysosome	hsa04142

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

#	Super pathways	Score	Top Affiliating Genes
1	Metabolism ⁶² Show member pathways Metabolic pathways ³⁶ Metabolism of lipids and lipoproteins ⁶²	13.87	ARSA ARSB CTSA GAA GBA GUSB
2	Innate Immune System ⁶² Show member pathways Immune System ⁶² Neutrophil degranulation ⁶²	13.79	AGA ARSA ARSB CTSA FUCA1 GAA
3	Glycosaminoglycan metabolism ⁶² Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶² HS-GAG biosynthesis ⁶² Hyaluronan biosynthesis and export ⁶² Hyaluronan metabolism ⁶² Hyaluronan uptake and degradation ⁶² Metabolism of carbohydrates ⁶²	12.71	ARSB GAA GUSB HEXA IDS IDUA
4	Chondroitin sulfate/dermatan sulfate metabolism ⁶² Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶² chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶² CS/DS degradation ⁶² Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶² Defective B3GAT3 causes JDSSDHD ⁶² Defective B4GALT7 causes EDS, progeroid type ⁶² Defective CHST14 causes EDS, musculocontractural type ⁶² Defective CHST3 causes SEDCJD ⁶² Defective CHSY1 causes TPBS ⁶² Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶² Defective EXT2 causes exostoses 2 ⁶² dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶² dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶² glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁶ Glypican pathway ¹ HS-GAG degradation ⁶² Proteogylcan syndecan-mediated signaling events ¹	12.37	ARSB GUSB HEXA IDS IDUA NAGLU
5	Sphingolipid metabolism ³⁶ ⁶² ¹ Show member pathways ceramide de novo biosynthesis ¹ Glycosphingolipid metabolism ⁶² Sphingolipid de novo biosynthesis ⁶²	12.28	ARSA ARSB CTSA GBA HEXA NEU1
6	Lysosome ³⁶	12.25	AGA ARSA ARSB CLN3 CTNS CTSA
7	Glycosaminoglycan degradation ³⁶ Show member pathways Interaction With Cumulus Cells ⁶²	10.86	ARSB GUSB HEXA HGSNAT IDS IDUA
8	Other glycan degradation ³⁶	10.42	AGA FUCA1 GBA HEXA MAN2B1 MANBA
9	Lysosomal oligosaccharide catabolism ⁶²	10.13	MAN2B1 MANBA

Sources

GO Terms for Lysosomal Storage Disease

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

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosome	GO:0005764	9.93	AGA ARSA ARSB CLN3 CTNS CTSA
2	lysosomal membrane	GO:0005765	9.87	CLN3 CTNS CTSA GAA GBA HGSNAT
3	azurophil granule lumen	GO:0035578	9.7	AGA ARSA ARSB CTSA FUCA1 GUSB
4	lysosomal lumen	GO:0043202	9.53	ARSA ARSB CTSA FUCA1 GAA GBA
5	extracellular exosome	GO:0070062	10.16	AGA ARSA ARSB CTNS CTSA FUCA1

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:0005975	9.92	FUCA1 GAA GUSB HEXA IDUA MAN2B1
2	neutrophil degranulation	GO:0043312	9.9	AGA ARSA ARSB CTSA FUCA1 GAA
3	lysosome organization	GO:0007040	9.77	ARSB CLN3 GAA NAGLU TPP1
4	central nervous system development	GO:0007417	9.73	ARSA ARSB TPP1
5	glycosphingolipid metabolic process	GO:0006687	9.73	ARSA ARSB CTSA GBA HEXA NEU1
6	chondroitin sulfate catabolic process	GO:0030207	9.71	ARSB HEXA IDS IDUA
7	response to estrogen	GO:0043627	9.69	ARSA ARSB GBA
8	neuromuscular process controlling balance	GO:0050885	9.65	CLN3 GAA TPP1
9	response to pH	GO:0009268	9.63	ARSA ARSB GBA
10	oligosaccharide catabolic process	GO:0009313	9.61	MAN2B1 MANBA NEU1
11	hyaluronan catabolic process	GO:0030214	9.55	GUSB HEXA
12	lysosomal transport	GO:0007041	9.54	ARSB HGSNAT
13	protein deglycosylation	GO:0006517	9.52	AGA MAN2B1
14	glycosaminoglycan catabolic process	GO:0006027	9.5	FUCA1 GUSB HGSNAT IDS IDUA NAGLU
15	response to methylmercury	GO:0051597	9.49	ARSA ARSB
16	metabolic process	GO:0008152	9.47	ARSA ARSB FUCA1 GAA GBA GUSB

Molecular functions related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity	GO:0016787	9.89	AGA ARSA ARSB CTSA FUCA1 GAA
2	sulfuric ester hydrolase activity	GO:0008484	9.46	ARSA ARSB IDS SGSH
3	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.43	GAA GUSB IDUA
4	arylsulfatase activity	GO:0004065	9.37	ARSA ARSB
5	exo-alpha-sialidase activity	GO:0004308	9.32	CTSA NEU1
6	hydrolase activity, acting on glycosyl bonds	GO:0016798	9.32	FUCA1 GAA GBA GUSB HEXA IDUA

Sources

Sources for Lysosomal Storage Disease

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ ExPASy

¹⁷ FDA Approved Drugs

¹⁸ FMA

¹⁹ GeneAnalytics

²⁰ GeneCards

²¹ GeneGo (Thomson Reuters)

²² GeneHancer via GeneCards

²³ GeneReviews

²⁴ Genetics Home Reference

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HGMD

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ MalaCards

³⁹ MedGen

⁴⁰ MedlinePlus

⁴¹ MeSH

⁴² MESH via Orphanet

⁴³ MGI

⁴⁴ NCBI Bookshelf

⁴⁵ NCI

⁴⁶ NCIt

⁴⁷ NDF-RT

⁴⁸ NIH Clinical Center

⁴⁹ NIH Rare Diseases

⁵⁰ NINDS

⁵¹ Novoseek

⁵² Novus Biologicals

⁵³ OMIM

⁵⁴ OMIM via Orphanet

⁵⁵ Orphanet

⁵⁶ PathCards

⁵⁷ PharmGKB

⁵⁸ PubMed

⁵⁹ PubMed Health

⁶⁰ QIAGEN

⁶¹ R&D Systems

⁶² Reactome

⁶³ Sino Biological

⁶⁴ SNOMED-CT

⁶⁵ SNOMED-CT via HPO

⁶⁶ SNOMED-CT via Orphanet

⁶⁷ TGDB

⁶⁸ Tocris

⁶⁹ UMLS

⁷⁰ UMLS via Orphanet

⁷¹ UniProtKB/Swiss-Prot

⁷² Wikipedia