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

MCID: LYS002 MIFTS: 55	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 ³⁸ ¹² ⁷⁶ ³⁷ ¹⁵

Lysosomal Storage Diseases ⁵⁵ ⁴⁴ ⁷³

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 ⁴⁴ D016464

NCIt ⁵⁰ C61250

SNOMED-CT ⁶⁸ 23585005

KEGG ³⁷ H01425

UMLS ⁷³ 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 mucopolysaccharidosis, type vii. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Lysosome and Metabolism. The drugs Cyclophosphamide and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include liver, bone and brain, and related phenotypes are behavior/neurological and cellular

Wikipedia : ⁷⁶ Lysosomal storage diseases (LSDs; /�?laɪs�?�?so�?m�?l/) 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 106)

#	Related Disease	Score	Top Affiliating Genes
1	fucosidosis	33.0	AGA CTSA FUCA1 GAA HEXA NAGLU
2	mucopolysaccharidosis, type vii	32.8	GLB1 GUSB HEXA IDUA SGSH
3	galactosialidosis	32.7	CTSA GLB1 NEU1
4	aspartylglucosaminuria	32.5	AGA CTSA GAA HEXA
5	mannosidosis, alpha b, lysosomal	32.5	CTSA GAA HEXA MAN2B1
6	neuraminidase deficiency	32.4	CTSA GLB1 NEU1
7	mucopolysaccharidosis, type iiia	32.2	NAGLU SGSH
8	hurler syndrome	32.2	GLB1 IDUA
9	mannosidosis, beta a, lysosomal	32.1	CTSA GAA HEXA MAN2B1
10	mucopolysaccharidosis, type ii	31.9	ARSA GAA IDS
11	mucolipidosis ii alpha/beta	31.9	FUCA1 GUSB NEU1
12	mucolipidosis iii alpha/beta	31.9	FUCA1 GUSB
13	gaucher disease, perinatal lethal	31.9	CTSA GBA HEXA
14	mucopolysaccharidosis iii	31.9	HGSNAT NAGLU SGSH
15	mucopolysaccharidosis, type vi	31.9	ARSA ARSB GAA GUSB
16	tay-sachs disease	31.8	ARSA CTSA GLB1 HEXA NEU1
17	inclusion-cell disease	31.8	ARSA CTSA GLB1
18	mucopolysaccharidosis-plus syndrome	31.8	ARSB GUSB HEXA IDS IDUA NAGLU
19	glycoproteinosis	31.7	CTSA GAA GLB1 NEU1
20	metachromatic leukodystrophy	31.7	ARSA ARSB HEXA
21	lipid storage disease	31.5	ARSA CLN3 GBA GLB1 HEXA TPP1
22	scheie syndrome	31.5	CTSA GAA GLB1 HEXA IDUA NAGLU
23	mannosidosis	30.9	MAN2B1 SGSH
24	hydrops fetalis	30.8	GBA GUSB
25	mucopolysaccharidoses	30.5	GUSB IDUA NAGLU
26	hydrops fetalis, nonimmune	30.4	GUSB NEU1
27	gangliosidosis gm1	30.4	ARSA CTSA GLB1 HEXA NEU1
28	gangliosidosis gm2	30.1	CTSA GLB1 HEXA
29	mucolipidosis iv	30.0	CTSA GLB1 HEXA
30	inherited metabolic disorder	29.6	ARSA CLN3 GAA GBA HEXA IDUA
31	fabry disease	11.6
32	cystinosis	11.5
33	gm1-gangliosidosis, type i	11.5
34	krabbe disease	11.4
35	ceroid lipofuscinosis, neuronal, 1	11.4
36	mucopolysaccharidosis, type iiic	11.3
37	mucopolysaccharidosis, type iiid	11.3
38	mucopolysaccharidosis, type iiib	11.2
39	mucopolysaccharidosis, type iva	11.2
40	hurler-scheie syndrome	11.2
41	ceroid lipofuscinosis, neuronal, 4b, autosomal dominant	11.1
42	ceroid lipofuscinosis, neuronal, 3	11.1
43	ceroid lipofuscinosis, neuronal, 4a, autosomal recessive	11.1
44	ceroid lipofuscinosis, neuronal, 2	11.1
45	cystinosis, adult nonnephropathic	11.1
46	cystinosis, nephropathic	11.1
47	cystinosis, late-onset juvenile or adolescent nephropathic type	11.1
48	gm1-gangliosidosis, type ii	11.1
49	gaucher disease, type i	11.1
50	gaucher disease, type iii	11.1

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:

⁴⁶ (show all 19)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.58	AGA ARSA ARSB CLN3 CTNS CTSA
2	cellular	MP:0005384	10.52	AGA ARSB CLN3 CTNS CTSA FUCA1
3	homeostasis/metabolism	MP:0005376	10.49	AGA ARSA ARSB CLN3 CTNS CTSA
4	growth/size/body region	MP:0005378	10.39	AGA ARSB CTSA GAA GBA GLB1
5	hematopoietic system	MP:0005397	10.37	ARSA ARSB CLN3 CTSA GBA GLB1
6	mortality/aging	MP:0010768	10.28	AGA CLN3 CTSA GBA GLB1 GUSB
7	cardiovascular system	MP:0005385	10.27	ARSB CTSA GAA GBA HGSNAT IDUA
8	immune system	MP:0005387	10.27	ARSA CLN3 CTSA GBA GLB1 HGSNAT
9	liver/biliary system	MP:0005370	10.27	AGA CLN3 CTSA GBA GLB1 HEXA
10	nervous system	MP:0003631	10.27	AGA ARSA ARSB CLN3 FUCA1 GBA
11	renal/urinary system	MP:0005367	10.22	AGA ARSB CLN3 CTNS CTSA FUCA1
12	integument	MP:0010771	10.18	AGA CTSA GBA GUSB IDS IDUA
13	craniofacial	MP:0005382	10.16	ARSB CTSA GUSB HEXA IDS IDUA
14	hearing/vestibular/ear	MP:0005377	10.08	ARSA ARSB GUSB HEXA IDUA MAN2B1
15	muscle	MP:0005369	10.01	ARSB CTNS GAA IDS IDUA MAN2B1
16	reproductive system	MP:0005389	9.86	ARSB CLN3 CTSA GLB1 GUSB HEXA
17	skeleton	MP:0005390	9.77	ARSB CTNS GAA GBA GLB1 GUSB
18	respiratory system	MP:0005388	9.7	ARSB CTSA GBA HGSNAT IDS NEU1
19	vision/eye	MP:0005391	9.32	ARSB CLN3 CTNS HEXA IDS IDUA

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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 228)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Cyclophosphamide

Approved, Investigational

Phase 4,Phase 2,Phase 3

6055-19-2, 50-18-0

2907

Acetylcysteine

Approved, Investigational

Phase 4,Phase 1,Phase 2

616-91-1

12035

rituximab

Approved

Phase 4,Phase 2,Phase 1

174722-31-7

10201696

leucovorin

Approved

Phase 4,Phase 1,Phase 2

58-05-9

6006 143

Methotrexate

Approved

Phase 4

59-05-2, 1959-05-2

126941

Miglustat

Approved

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

72599-27-0

51634

Bortezomib

Approved, Investigational

Phase 4

179324-69-7

387447 93860

Sofosbuvir

Approved

Phase 4

1190307-88-0

45375808

Ledipasvir

Approved

Phase 4

1256388-51-8

67505836

Desipramine

Approved, Investigational

Phase 4

50-47-5

2995

Folic Acid

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 1,Phase 2

59-30-3

6037

Vitamin D

Approved, Nutraceutical, Vet_approved

Phase 4,Phase 2

1406-16-2

Ergocalciferol

Approved, Nutraceutical

Phase 4,Not Applicable

50-14-6

5280793

1-Deoxynojirimycin

Experimental, Investigational

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

19130-96-2

1374

Immunologic Factors

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Immunosuppressive Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Pharmaceutical Solutions

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Protective Agents

Phase 4,Phase 1,Phase 2

Respiratory System Agents

Phase 4,Phase 1,Phase 2

Antioxidants

Phase 4,Phase 1,Phase 2

Expectorants

Phase 4,Phase 1,Phase 2

N-monoacetylcystine

Phase 4,Phase 1,Phase 2

Antidotes

Phase 4,Phase 1,Phase 2

Antiviral Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Free Radical Scavengers

Phase 4,Phase 1,Phase 2

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

cysteine

Phase 4,Phase 1,Phase 2

Autonomic Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Albuterol

Phase 4,Phase 1,Phase 2

Anti-Asthmatic Agents

Phase 4,Phase 1,Phase 2

Adrenergic Agonists

Phase 4,Phase 1,Phase 2

Adrenergic beta-2 Receptor Agonists

Phase 4,Phase 1,Phase 2

Neurotransmitter Agents

Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1

Tocolytic Agents

Phase 4,Phase 1,Phase 2

Adrenergic beta-Agonists

Phase 4,Phase 1,Phase 2

Peripheral Nervous System Agents

Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable

Adrenergic Agents

Phase 4,Phase 2,Phase 1,Not Applicable

Bronchodilator Agents

Phase 4,Phase 1,Phase 2

Vitamin B9

Phase 4,Phase 1,Phase 2

Folate

Phase 4,Phase 1,Phase 2

Antimetabolites, Antineoplastic

Phase 4,Phase 2,Phase 1,Not Applicable

Nucleic Acid Synthesis Inhibitors

Phase 4,Phase 2

Antirheumatic Agents

Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable

Folic Acid Antagonists

Phase 4,Phase 1,Phase 2

Dermatologic Agents

Phase 4,Phase 2,Phase 1,Not Applicable,Early Phase 1

Antimetabolites

Phase 4,Phase 2,Phase 1,Not Applicable

Vitamin B Complex

Phase 4,Phase 1,Phase 2

Antibodies

Phase 4,Phase 1,Phase 2

Immunoglobulins

Phase 4,Phase 1,Phase 2

Micronutrients

Phase 4,Phase 2,Phase 1,Not Applicable

Interventional clinical trials:

(show top 50) (show all 621)

#	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 Safety and Efficacy Study of Fabrazyme® Replacement Therapy in Patients With Cardiac Fabry Disease	Completed	NCT00140621	Phase 4	Agalsidase beta
16	Replagal Enzyme Replacement Therapy for Adults With Fabry Disease	Completed	NCT00097890	Phase 4	Replagal (Agalsidase Alfa);Replagal
17	A Study of the Safety and Efficacy of Fabrazyme in Patients With Fabry Disease	Completed	NCT00081497	Phase 4
18	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
19	A Phase 4 Two Dose Level Study of Naglazyme(TM) (Galsulfase) in Infants With MPS VI	Completed	NCT00299000	Phase 4	Naglazyme
20	A Dose-optimization Study of Aldurazyme® (Laronidase) in Patients With Mucopolysaccharidosis I (MPS I) Disease	Completed	NCT00144781	Phase 4
21	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
22	Study of the Effects of Fabrazyme Treatment on Lactation and Infants	Recruiting	NCT00230607	Phase 4	agalsidase beta
23	Evaluate Efficacy and Safety in Chinese Patients With Infantile-Onset Pompe Disease With One Year Alglucosidase Alfa Treatment	Recruiting	NCT03687333	Phase 4	ALGLUCOSIDASE ALFA (MYOZYME)
24	Rapid Intravenous Infusion of Velaglucerase Alfa (VPRIV) in Treatment-naive Patients With Type 1 Gaucher Disease	Recruiting	NCT03702361	Phase 4	VPRIV
25	Pharmacokinetics, Pharmacodynamics And Safety Study Of Elelyso(tm) In Pediatric Subjects With Type 1 Gaucher Disease	Recruiting	NCT03021941	Phase 4	Elelyso 60 units/kg
26	Immune Modulation Therapy for Pompe Disease	Recruiting	NCT02525172	Phase 4	Rituximab;intravenous immune globulin;Bortezomib;Methotrexate
27	Study of the Effect of Velaglucerase Alfa (VPRIV®) on Bone-related Pathology in Treatment-naïve Participants With Type 1 Gaucher Disease	Recruiting	NCT02574286	Phase 4	Velaglucerase alfa
28	Chronic Hepatitis C Treatment in Egyptian Children With Gaucher Disease.	Recruiting	NCT03721627	Phase 4	Ledipasvir/Sofosbuvir
29	Synergistic Enteral Regimen for Treatment of the Gangliosidoses	Recruiting	NCT02030015	Phase 4	miglustat
30	Pharmacokinetics of Alglucosidase Alfa in Patients With Pompe Disease	Recruiting	NCT01410890	Phase 4
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	Immune Tolerance Induction Study	Active, not recruiting	NCT00701701	Phase 4
33	Growth and Development Study of Alglucosidase Alfa.	Active, not recruiting	NCT00486889	Phase 4
34	Long-term Evaluation on Height and Weight in Patients With MPS II Who Started Treatment at < 6 Years of Age	Active, not recruiting	NCT02455622	Phase 4	Elaprase for intravenous (IV) infusion
35	Desipramine in Infantile Neuroaxonal Dystrophy (INAD).	Enrolling by invitation	NCT03726996	Phase 4	Desipramine
36	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
37	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
38	Morquio's Syndrome: a Case Study	Terminated	NCT00609440	Phase 4
39	The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher Disease	Withdrawn	NCT02528617	Phase 4	Velaglucerase alfa
40	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)
41	Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis	Unknown status	NCT01238328	Phase 2, Phase 3	Conditioning regimen;Graft-versus-host disease (GVHD) prophylaxis
42	BMN 110 Phase 3B in Australian Patients	Unknown status	NCT01966029	Phase 3	BMN 110
43	Extension of Study TKT024 Evaluating Long-Term Safety and Clinical Outcomes in MPS II Patients Receiving Idursulfase	Completed	NCT00630747	Phase 2, Phase 3
44	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)
45	Plant Cell Expressed Recombinant Human Glucocerebrosidase Extension Trial	Completed	NCT00705939	Phase 3	Taliglucerase alfa
46	Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher Disease	Completed	NCT00553631	Phase 3
47	Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase	Completed	NCT00478647	Phase 2, Phase 3
48	A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher Disease	Completed	NCT00430625	Phase 3
49	Switchover Trial From Imiglucerase to Plant Cell Expressed Recombinant Human Glucocerebrosidase	Completed	NCT00712348	Phase 3	Taliglucerase alfa
50	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

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�, umbilical cord blood-derived hematopoietic progenitor cells for hematopoietic reconstitution

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:

⁴¹

Liver, Bone, Brain, Bone Marrow, Skin, Small Intestine, Kidney

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Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 437)

#	Title	Authors	Year
1	THE LYSOSOMAL STORAGE DISEASE GM2 GANGLIOSIDOSIS IN CAPTIVE BANDED MONGOOSE SIBLINGS ( MUNGOS MUNGO). ( 29900785 )	Wimmershoff J....Stoffel M.H.	2018
2	Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. ( 29439846 )	Lee J.S....Chae J.H.	2018
3	Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. ( 29323117 )		2018
4	Vacuolated Lymphocytes as a Clue for Diagnosis of Lysosomal Storage Disease like GM1 Gangliosidosis. ( 30369755 )	Vasei M...Safavi M	2018
5	Cigarette smoke extract may induce lysosomal storage disease-like adverse health effects. ( 30485468 )	Park EJ...Lee K	2018
6	UPLC-MS/MS Analysis of Urinary Free Oligosaccharides for Lysosomal Storage Diseases: Diagnosis and Potential Treatment Monitoring. ( 30201803 )	Huang R...Wood T	2018
7	Subcellular Nanorheology Reveals Lysosomal Viscosity as a Reporter for Lysosomal Storage Diseases. ( 29313356 )	Devany J...Krishnan Y	2018
8	Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders. ( 29342918 )	Moskot M...Gabig-Cimi?ska M	2018
9	SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. ( 29396849 )	Ou L...Whitley CB	2018
10	The erythrocyte osmotic resistance test as screening tool for cholesterol-related lysosomal storage diseases. ( 29447902 )	L?pez de Frutos L...Giraldo P	2018
11	Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases. ( 29491402 )	Annunziata I...d'Azzo A	2018
12	Tuning protein folding in lysosomal storage diseases: the chemistry behind pharmacological chaperones. ( 29719681 )	Pereira DM...Andrade PB	2018
13	Enzyme Replacement Therapy: A Review and Its Role in Treating Lysosomal Storage Diseases. ( 29750286 )	Li M	2018
14	Neonatal screening for four lysosomal storage diseases with a digital microfluidics platform: Initial results in Brazil. ( 29870571 )	Camargo Neto E...Giugliani R	2018
15	The Spectrum of Movement Disorders in Childhood-Onset Lysosomal Storage Diseases. ( 29930972 )	Ebrahimi-Fakhari D...Bodamer O	2018
16	The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants. ( 30093709 )	Wasserstein MP...Orsini JJ	2018
17	Fundamentals of CNS energy metabolism and alterations in lysosomal storage diseases. ( 30144055 )	McKenna MC...Ferreira GC	2018
18	Lysosomal storage diseases. ( 30275469 )	Platt FM...Tifft CJ	2018
19	Author Correction: Lysosomal storage diseases. ( 30337566 )	Platt FM...Tifft CJ	2018
20	Gene therapy for lysosomal storage diseases and peroxisomal diseases. ( 30498239 )	Ohashi T	2018
21	Enzyme enhancement therapeutics for lysosomal storage diseases: Current status and perspective. ( 30528228 )	Thomas R...Kermode AR	2018
22	Clinical implementation of gene panel testing for lysosomal storage diseases. ( 30548430 )	Gheldof A...De Meirleir L	2018
23	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
24	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
25	Misrouting of v-ATPase subunit V0a1 dysregulates lysosomal acidification in a neurodegenerative lysosomal storage disease model. ( 28266544 )	Bagh M.B....Mukherjee A.B.	2017
26	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
27	Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases. ( 27881461 )	Sambri I...Fraldi A	2017
28	Magnetic resonance imaging findings of central nervous system in lysosomal storage diseases: A pictorial review. ( 28019087 )	Fagan N...Naffaa L	2017
29	Influence of Corneal Opacity on Intraocular Pressure Assessment in Patients with Lysosomal Storage Diseases. ( 28081172 )	Wasielica-Poslednik J...Pitz S	2017
30	From Lysosomal Storage Diseases to NKT Cell Activation and Back. ( 28245613 )	Pereira CS...Macedo MF	2017
31	Oral Health Status of Patients with Lysosomal Storage Diseases in Poland. ( 28282939 )	Dr??ewski D...Surdacka A	2017
32	Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory. ( 28304074 )	Giugliani R...Burin M	2017
33	Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases. ( 28477283 )	Saffari A...Ebrahimi-Fakhari D	2017
34	Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology. ( 28703315 )	Wang N...Xing J	2017
35	Investigation of newborns with abnormal results in a newborn screening program for four lysosomal storage diseases in Brazil. ( 28721335 )	Bravo H...Giugliani R	2017
36	Newborn Screening for Lysosomal Storage Diseases: A Concise Review of the Literature on Screening Methods, Therapeutic Possibilities and Regional Programs. ( 28730181 )	Schielen PCJI...Gelb MH	2017
37	Lysosomal Storage Diseases: Past, Present, and Future. ( 28817523 )	Richtsfeld M...Belani KG	2017
38	Exacerbating and reversing lysosomal storage diseases: from yeast to humans. ( 28913343 )	Rajakumar T...Sturley SL	2017
39	Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment? ( 28923328 )	Duarte AJ...Amaral O	2017
40	A Prospective Treatment Option for Lysosomal Storage Diseases: CRISPR/Cas9 Gene Editing Technology for Mutation Correction in Induced Pluripotent Stem Cells. ( 28933359 )	Christensen CL...Choy FYM	2017
41	Lysosomal storage diseases. ( 29152458 )	Ferreira CR...Gahl WA	2017
42	Lipid Involvement in Neurodegenerative Diseases of the Motor System: Insights from Lysosomal Storage Diseases. ( 29163032 )	Dodge JC	2017
43	Dysregulation of autophagy as a common mechanism in lysosomal storage diseases. ( 29233882 )	Seranova E...Sarkar S	2017
44	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
45	Fusion of lysosomes with secretory organelles leads to uncontrolled exocytosis in the lysosomal storage disease mucolipidosis type IV. ( 26682800 )	Park S....Muallem S.	2016
46	Therapy Development for the Lysosomal Storage Disease Fucosidosis using the Canine Animal Model. ( 27491218 )		2016
47	The lysosomal storage disease continuum with ageing-related neurodegenerative disease. ( 27516378 )		2016
48	Astrocytes and lysosomal storage diseases. ( 26037807 )	Rama Rao KV...Kielian T	2016
49	Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction. ( 26597321 )	Kishnani PS...Pariser AR	2016
50	Modifying blood-brain barrier transport to bring hope for patients with lysosomal storage diseases. ( 26661227 )	Keep RF...Xiang J	2016

Sources

Genes for Lysosomal Storage Disease

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

(show all 30)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	AGA	Aspartylglucosaminidase	Protein Coding	55.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	47.42	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	44.4	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Summaries (show sections)	17217652 9337875 16480701 (more) 18331837 9024795 17063374 18618289 9442913
4	GUSB	Glucuronidase Beta	Protein Coding	44.2	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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	44.08	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Summaries (show sections)	15146460
6	FUCA1	Alpha-L-Fucosidase 1	Protein Coding	43.17	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Summaries (show sections)	8401503 17427030 1281988 (more) 8399358 16008696 8504303 1873910 9039984
7	GLB1	Galactosidase Beta 1	Protein Coding	42.45	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	1946081 10338095
8	NAGLU	N-Acetyl-Alpha-Glucosaminidase	Protein Coding	40.85	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	19587708 19632871 17460717
9	NEU1	Neuraminidase 1	Protein Coding	40.76	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Summaries (show sections)	19568825 9480870 11195014 (more) 18396002 9603439 19666471 12649068 15908988 11470272 8725271 12932252
10	IDUA	Iduronidase, Alpha-L-	Protein Coding	37.62	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	17718826 18479957 1339393 (more) 9134434 19844196 18654672 8527473 10356309 16435195 11159948 18613275
11	CLN3	CLN3, Battenin	Protein Coding	36.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18314010
12	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	36.43	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	16092933 17557860 8875224 (more) 1424119 7973467 14727180
13	TPP1	Tripeptidyl Peptidase 1	Protein Coding	36.32	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10470035 11445074 15158442 (more) 10762513 15582991 9989590
14	ARSB	Arylsulfatase B	Protein Coding	36.22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	1904721 12904606 15930196 (more) 18502162 18486607 20152898 16647419 1550123 11802522 15895715 20385007 17672828
15	ARSA	Arylsulfatase A	Protein Coding	36.06	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ 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
16	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	35.51	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	10571941 15500372 15365816
17	CTSA	Cathepsin A	Protein Coding	35.41	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	18396002 19097920 19666471 (more) 12649068 7503422 8725271 9636645
18	GAA	Glucosidase Alpha, Acid	Protein Coding	34.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11949932 11991748 15668445 (more) 17924344 20225018 8575451 17826266 15515143
19	HGSNAT	Heparan-Alpha-Glucosaminide N-Acetyltransferase	Protein Coding	34.08	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries (show sections)
20	MAN2B1	Mannosidase Alpha Class 2B Member 1	Protein Coding	33.76	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Publications (show sections)
21	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	23.74	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	16837223 19394256
22	HEXB	Hexosaminidase Subunit Beta	Protein Coding	23.72	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	16092933 8162015 18772556
23	MANBA	Mannosidase Beta	Protein Coding	23.2	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Summaries (show sections)
24	GALC	Galactosylceramidase	Protein Coding	22.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	20410102 16352725
25	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	22	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	1618760 7600574
26	GLA	Galactosidase Alpha	Protein Coding	19.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	16287034 8819626 15712228 (more) 16298216 17940933 19368525 15253767
27	MCOLN1	Mucolipin 1	Protein Coding	18.18	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	15070744 10352940 19041749 (more) 17988215 18550655 17956286 19864416
28	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	17.5	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	11589008 9648881
29	SUMF1	Sulfatase Modifying Factor 1	Protein Coding	17.23	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	14563551
30	M6PR	Mannose-6-Phosphate Receptor, Cation Dependent	Protein Coding	16.79	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	18838694 20040307 8527473

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:

³⁷

#	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 ⁶⁶ Show member pathways Metabolic pathways ³⁷ Metabolism of lipids and lipoproteins ⁶⁶	13.91	ARSA ARSB CTSA GAA GBA GLB1
2	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.77	AGA ARSA ARSB CTSA FUCA1 GAA
3	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis ¹ chondroitin sulfate biosynthesis (late stages) ¹ Heparan sulfate/heparin (HS-GAG) metabolism ⁶⁶ HS-GAG biosynthesis ⁶⁶ Hyaluronan biosynthesis and export ⁶⁶ Hyaluronan metabolism ⁶⁶ Hyaluronan uptake and degradation ⁶⁶ Metabolism of carbohydrates ⁶⁶	12.71	ARSB GAA GLB1 GUSB HEXA IDS
4	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁶ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁶ chondroitin biosynthesis ¹ Chondroitin sulfate biosynthesis ⁶⁶ CS/DS degradation ⁶⁶ Defective B3GALT6 causes EDSP2 and SEMDJL1 ⁶⁶ Defective B3GAT3 causes JDSSDHD ⁶⁶ Defective B4GALT7 causes EDS, progeroid type ⁶⁶ Defective CHST14 causes EDS, musculocontractural type ⁶⁶ Defective CHST3 causes SEDCJD ⁶⁶ Defective CHSY1 causes TPBS ⁶⁶ Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁶ Defective EXT2 causes exostoses 2 ⁶⁶ dermatan sulfate biosynthesis ¹ Dermatan sulfate biosynthesis ⁶⁶ dermatan sulfate biosynthesis (late stages) ¹ Diseases associated with glycosaminoglycan metabolism ⁶⁶ glycoaminoglycan-protein linkage region biosynthesis ¹ Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate ³⁷ Glypican pathway ¹ HS-GAG degradation ⁶⁶ Proteogylcan syndecan-mediated signaling events ¹	12.43	ARSB GLB1 GUSB HEXA IDS IDUA
5	Sphingolipid metabolism ¹ ⁶⁶ ³⁷ Show member pathways ceramide de novo biosynthesis ¹ Glycosphingolipid metabolism ⁶⁶ Sphingolipid de novo biosynthesis ⁶⁶	12.32	ARSA ARSB CTSA GBA GLB1 HEXA
6	Lysosome ³⁷	12.25	AGA ARSA ARSB CLN3 CTNS CTSA
7	Glycosaminoglycan degradation ³⁷ Show member pathways Interaction With Cumulus Cells ⁶⁶	10.91	ARSB GLB1 GUSB HEXA HGSNAT IDS
8	Glycosphingolipid biosynthesis - ganglio series ³⁷ Show member pathways Ganglio Sphingolipid Metabolism ¹	10.9	GLB1 HEXA
9	Other glycan degradation ³⁷	10.42	AGA FUCA1 GBA GLB1 HEXA MAN2B1

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	9.76	AGA ARSA ARSB CTSA FUCA1 GLB1
4	ficolin-1-rich granule lumen	GO:1904813	9.58	ARSB GLB1 GUSB
5	lysosomal lumen	GO:0043202	9.53	ARSA ARSB CTSA FUCA1 GAA GBA
6	vacuolar membrane	GO:0005774	9.43	CTNS MAN2B1
7	extracellular exosome	GO:0070062	10.16	ARSA ARSB CTNS CTSA FUCA1 GAA
8	extracellular region	GO:0005576	10.02	AGA ARSA ARSB CTSA FUCA1 GLB1

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

(show all 16)

#	Name	GO ID	Score	Top Affiliating Genes
1	neutrophil degranulation	GO:0043312	9.9	AGA ARSA ARSB CTSA FUCA1 GAA
2	carbohydrate metabolic process	GO:0005975	9.86	FUCA1 GAA GLB1 GUSB HEXA IDUA
3	lysosome organization	GO:0007040	9.77	ARSB CLN3 GAA NAGLU TPP1
4	glycosphingolipid metabolic process	GO:0006687	9.72	ARSA CTSA GLB1 HEXA NEU1
5	chondroitin sulfate catabolic process	GO:0030207	9.71	ARSB HEXA IDS IDUA
6	response to estrogen	GO:0043627	9.67	ARSA ARSB GBA
7	metabolic process	GO:0008152	9.65	FUCA1 GAA GBA GLB1 GUSB HEXA
8	neuromuscular process controlling balance	GO:0050885	9.63	CLN3 GAA TPP1
9	response to pH	GO:0009268	9.61	ARSA ARSB GBA
10	hyaluronan catabolic process	GO:0030214	9.56	GUSB HEXA
11	lysosomal transport	GO:0007041	9.55	ARSB HGSNAT
12	keratan sulfate catabolic process	GO:0042340	9.54	GLB1 HEXA
13	oligosaccharide catabolic process	GO:0009313	9.52	MAN2B1 NEU1
14	protein deglycosylation	GO:0006517	9.51	AGA MAN2B1
15	response to methylmercury	GO:0051597	9.48	ARSA ARSB
16	glycosaminoglycan catabolic process	GO:0006027	9.23	FUCA1 GLB1 GUSB HGSNAT IDS IDUA

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	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.5	GAA GLB1 IDUA
3	sulfuric ester hydrolase activity	GO:0008484	9.46	ARSA ARSB IDS SGSH
4	exo-alpha-sialidase activity	GO:0004308	9.43	CTSA GLB1 NEU1
5	arylsulfatase activity	GO:0004065	9.37	ARSA ARSB
6	hydrolase activity, acting on glycosyl bonds	GO:0016798	9.32	FUCA1 GAA GBA GLB1 GUSB HEXA

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 DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia