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

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Aliases & Classifications for Lysosomal Storage Disease

MalaCards integrated aliases for Lysosomal Storage Disease:

Name: Lysosomal Storage Disease ¹¹ ⁷⁵ ²⁸ ¹⁴ ³⁶

Lysosomal Storage Diseases ⁵³ ⁴³ ⁷¹

Lysosomal Storage Metabolism Disorder ¹¹

Inborn Lysosomal Enzyme Disorder ¹¹

Disorder of Lysosomal Enzyme ¹¹

Lysosomal Storage Disorder ¹⁴

Classifications:

MalaCards categories:
Global: Metabolic diseases Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:3211

MeSH ⁴³ D016464

NCIt ⁴⁹ C61250

SNOMED-CT ⁶⁸ 23585005

UMLS ⁷¹ C0085078

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Summaries for Lysosomal Storage Disease

Disease Ontology: ¹¹ 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 mannosidosis, beta a, lysosomal. An important gene associated with Lysosomal Storage Disease is AGA (Aspartylglucosaminidase), and among its related pathways/superpathways are Innate Immune System and Metabolism. The drugs Busulfan and Melphalan have been mentioned in the context of this disorder. Affiliated tissues include spinal cord, bone marrow and t cells, and related phenotypes are nervous system and renal/urinary system

Wikipedia: ⁷⁵ Lysosomal storage diseases (LSDs; /ˌlaɪsəˈsoʊməl/) are a group of over 70 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 297)

#	Related Disease	Score	Top Affiliating Genes
1	fucosidosis	33.1	SGSH NAGLU MAN2B1 IDUA GLB1 GALNS
2	mannosidosis, beta a, lysosomal	32.9	MAN2B1 HGSNAT FUCA1
3	galactosialidosis	32.9	NEU1 NAGLU MAN2B1 IDUA GLB1 GALNS
4	mucopolysaccharidosis, type vii	32.8	TPP1 SGSH NAGLU IDUA IDS HGSNAT
5	aspartylglucosaminuria	32.8	MAN2B1 IDUA FUCA1 CTSA CTNS CLN3
6	mannosidosis, alpha b, lysosomal	32.8	SGSH NAGLU MAN2B1 IDUA GUSB FUCA1
7	hurler-scheie syndrome	32.7	SGSH NAGLU IDUA IDS GALNS
8	mucopolysaccharidosis, type iiia	32.7	TPP1 SGSH NAGLU IDUA IDS HGSNAT
9	mucopolysaccharidosis, type vi	32.7	SGSH NAGLU IDUA IDS HGSNAT GUSB
10	glycoproteinosis	32.7	NEU1 GLB1 FUCA1 CTSA CLN3
11	hurler syndrome	32.7	SGSH NEU1 NAGLU MAN2B1 IDUA IDS
12	mucopolysaccharidosis, type ii	32.6	TPP1 SGSH NAGLU IDUA IDS HGSNAT
13	mucopolysaccharidosis, type iiic	32.6	SGSH NAGLU IDUA IDS HGSNAT GLB1
14	multiple sulfatase deficiency	32.6	IDS GALNS ARSA
15	mucopolysaccharidosis, type iiid	32.6	SGSH NAGLU IDUA IDS HGSNAT GUSB
16	schindler disease	32.6	MAN2B1 FUCA1
17	scheie syndrome	32.6	TPP1 SGSH NAGLU IDUA IDS HGSNAT
18	mucopolysaccharidosis, type iiib	32.5	TPP1 SGSH NAGLU IDUA IDS HGSNAT
19	mucopolysaccharidosis, type iva	32.5	SGSH NAGLU IDUA IDS HGSNAT GUSB
20	fabry disease	32.5	GUSB GBA1 FUCA1 ARSA AGA
21	mucolipidosis ii alpha/beta	32.4	NEU1 IDUA GUSB FUCA1
22	mucopolysaccharidosis iii	32.4	TPP1 SGSH NAGLU MAN2B1 IDUA IDS
23	krabbe disease	32.4	SGSH NAGLU IDUA IDS GLB1 GBA1
24	gm1-gangliosidosis, type ii	32.4	IDS HEXB GLB1 GALNS CTSA
25	ceroid lipofuscinosis, neuronal, 13	32.4	TPP1 CLN3
26	sandhoff disease	32.4	SGSH NAGLU HEXB HEXA GLB1 GBA1
27	mucolipidosis iii alpha/beta	32.4	NAGLU MAN2B1 GUSB FUCA1
28	gm2-gangliosidosis, ab variant	32.4	NEU1 HEXB HEXA GLB1
29	lipid storage disease	32.4	TPP1 GBA1 CLN3 ARSA
30	ceroid lipofuscinosis, neuronal, 11	32.3	TPP1 CLN3
31	mucopolysaccharidosis, type ivb	32.3	SGSH NAGLU IDUA IDS HGSNAT GUSB
32	mucopolysaccharidosis iv	32.3	SGSH NEU1 NAGLU IDUA IDS HGSNAT
33	tay-sachs disease	32.3	TPP1 SGSH NEU1 NAGLU IDUA HEXB
34	metachromatic leukodystrophy	32.3	TPP1 SGSH NAGLU IDUA IDS HEXB
35	mucopolysaccharidosis-plus syndrome	32.3	TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
36	ceroid lipofuscinosis, neuronal, 10	32.2	TPP1 CLN3
37	gangliosidosis	31.3	SGSH NEU1 NAGLU IDUA HEXB HEXA
38	gaucher's disease	31.3	NAGLU IDUA IDS HEXA GUSB GBA1
39	mucopolysaccharidoses	31.3	IDUA IDS GUSB GALNS
40	gm1 gangliosidosis	31.2	SGSH NEU1 NAGLU IDUA IDS HGSNAT
41	niemann-pick disease	31.1	NAGLU IDUA GBA1 CLN3 ARSA
42	mucolipidosis	31.1	NEU1 NAGLU IDUA GLB1 GBA1 GALNS
43	neuronal ceroid lipofuscinosis	31.1	TPP1 SGSH NAGLU IDUA IDS HGSNAT
44	gm2 gangliosidosis	31.1	SGSH NEU1 NAGLU IDUA HEXB HEXA
45	niemann-pick disease, type a	30.8	NAGLU MAN2B1 IDUA HEXA GBA1
46	hydrops fetalis, nonimmune	30.8	NEU1 GUSB CTSA
47	ceroid lipofuscinosis, neuronal, 3	30.8	TPP1 SGSH NAGLU CLN3
48	gaucher disease, type iii	30.7	GBA1 ARSA
49	sphingolipidosis	30.6	SGSH NAGLU IDUA IDS HEXB HEXA
50	angiokeratoma	30.6	NEU1 FUCA1 CTSA

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

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Symptoms & Phenotypes for Lysosomal Storage Disease

GenomeRNAi Phenotypes related to Lysosomal Storage Disease according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	no effect	GR00402-S-1	10.14	AGA ARSA CLN3 CTNS CTSA FUCA1
2	no effect	GR00402-S-2	10.14	AGA CLN3 CTNS CTSA FUCA1 GUSB

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

⁴⁵ (show all 17)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	nervous system	MP:0003631	10.5	AGA ARSA CLN3 CTSA FUCA1 GBA1
2	renal/urinary system	MP:0005367	10.49	AGA CLN3 CTNS CTSA FUCA1 GALNS
3	homeostasis/metabolism	MP:0005376	10.49	AGA ARSA CLN3 CTNS CTSA FUCA1
4	cellular	MP:0005384	10.41	AGA ARSA CLN3 CTNS CTSA FUCA1
5	liver/biliary system	MP:0005370	10.38	AGA CLN3 CTSA GBA1 GLB1 HEXA
6	behavior/neurological	MP:0005386	10.38	AGA ARSA CLN3 CTNS CTSA FUCA1
7	growth/size/body region	MP:0005378	10.32	AGA CLN3 CTSA GBA1 GLB1 GUSB
8	immune system	MP:0005387	10.18	ARSA CLN3 CTSA GBA1 GLB1 HEXB
9	skeleton	MP:0005390	10.17	CTNS GALNS GBA1 GLB1 GUSB HEXA
10	hearing/vestibular/ear	MP:0005377	10.15	ARSA FUCA1 GUSB HEXA HEXB IDS
11	limbs/digits/tail	MP:0005371	10.13	CTSA GUSB HEXA HEXB HGSNAT IDS
12	muscle	MP:0005369	10.09	CTNS HEXB IDS IDUA MAN2B1 NEU1
13	vision/eye	MP:0005391	10.07	ARSA CLN3 CTNS CTSA GALNS HEXA
14	craniofacial	MP:0005382	10.06	CTSA GUSB HEXA HEXB IDS IDUA
15	hematopoietic system	MP:0005397	10	ARSA CLN3 CTSA GBA1 GLB1 GUSB
16	mortality/aging	MP:0010768	9.83	AGA CLN3 CTSA GBA1 GLB1 GUSB
17	integument	MP:0010771	9.32	AGA CTSA GBA1 GUSB 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 all 31)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Busulfan

Approved, Investigational

Phase 2

55-98-1

2478

2

Melphalan

Approved

Phase 1

148-82-3

4053 460612

3

Fludarabine

Approved

Phase 1

75607-67-9, 21679-14-1

30751 657237

4

Alemtuzumab

Approved, Investigational

Phase 1

216503-57-0

5

Thiotepa

Approved, Investigational

Phase 1

52-24-4

5453

6

Hydroxyurea

Approved

Phase 1

127-07-1

3657

7

Alkylating Agents

Phase 1

8

Antineoplastic Agents, Alkylating

Phase 1

9

Immunosuppressive Agents

Phase 1

10

Pharmaceutical Solutions

Phase 1

11

Benzocaine

Approved, Investigational

1994-09-7, 94-09-7

2337

12

Tannic acid

Approved

1401-55-4

16129878 16129778

13

Mycophenolic acid

Approved, Investigational

24280-93-1

446541

14

Miconazole

Approved, Investigational, Vet_approved

22916-47-8

4189

15

Clotrimazole

Approved, Vet_approved

23593-75-1

2812

16

Clofarabine

Approved, Investigational

123318-82-1

119182

17

Antirheumatic Agents

18

Anti-Bacterial Agents

19

Anti-Infective Agents

20

Calcineurin Inhibitors

21

Cyclosporins

22

Antifungal Agents

23

Antimetabolites

24

Antitubercular Agents

25

Antibiotics, Antitubercular

26

Antineoplastic Agents, Immunological

27

Dermatologic Agents

28

Liver Extracts

29

Immunoglobulins

30

Antibodies, Blocking

31

Antibodies

Interventional clinical trials:

(show all 36)

#	Name	Status	NCT ID	Phase	Drugs
1	An Open Label, Non-randomized Trial to Evaluate the Safety and Efficacy of a Single Infusion of OTL-200 in Patients With Late Juvenile (LJ) Metachromatic Leukodystrophy (MLD).	Recruiting	NCT04283227	Phase 3
2	A Phase III Trial of ALD-101 Adjuvant Therapy of Unrelated Umbilical Cord Blood Transplantation (UCBT) in Patients With Inborn Errors of Metabolism	Terminated	NCT00654433	Phase 3
3	A Phase 1/2 Study to Determine Safety and Efficacy of Transplantation With Autologous Human CD34+ Hematopoietic Stem Cells (HSC) From Mobilized Peripheral Blood Stem Cells (PBSC) of Patients With Cystinosis Modified by Ex Vivo Transduction Using pCCL-CTNS or pCDY.EFS.CTNS.T260I Lentiviral Vector	Recruiting	NCT03897361	Phase 1, Phase 2
4	A Phase 1/2, Baseline-controlled, Non-randomised, Open-label, Single-ascending Dose Study of a Novel Adeno-associated Viral Vector (FLT190) in Patients With Fabry Disease	Recruiting	NCT04040049	Phase 1, Phase 2
5	A Single Arm, Open Label, Clinical Study of Cryopreserved Autologous CD34+ Cells Transduced With Lentiviral Vector Containing Human ARSA cDNA (OTL-200), for the Treatment of Early Onset Metachromatic Leukodystrophy (MLD)	Active, not recruiting	NCT03392987	Phase 2
6	A Phase I/II Clinical Trial of Hematopoietic Stem Cell Gene Therapy for the Treatment of Metachromatic Leukodystrophy	Active, not recruiting	NCT01560182	Phase 1, Phase 2
7	Phase 1/2, Dose-escalation Study to Evaluate the Safety, Tolerability and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults With Late-onset Pompe Disease	Active, not recruiting	NCT04093349	Phase 1, Phase 2
8	A Pilot Study of Reduced Intensity Conditioning in Pediatric Patients <21 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood Transplantation	Completed	NCT00744692	Phase 1	Reduced Intensity Conditioning
9	An Extension Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I	Terminated	NCT00786968	Phase 1	laronidase
10	A Study of Intrathecal Enzyme Replacement Therapy for Spinal Cord Compression in Mucopolysaccharidosis I	Terminated	NCT00215527	Phase 1	laronidase
11	Treatment of Early Infantile-Onset Lysosomal Storage Diseases With Fetal Umbilical Cord Blood (UCB) Transplantation	Withdrawn	NCT01003912	Phase 1
12	Enzymatic and Genotypic Screening of Lysosomal Storage Diseases in Minority Groups	Unknown status	NCT03812042
13	Investigating Lysosomal Storage Diseases in Minority Groups	Unknown status	NCT02120235
14	Cellular Pharmacodynamics of Small Molecules in Sanfilippo Disease(s) (MPS3) and Other Lysosomal Storage Disorders	Unknown status	NCT03812055
15	Lysosomal Storage Disease: Health, Development, and Functional Outcome Surveillance in Preschool Children	Completed	NCT01938014
16	A Study of Intrathecal Enzyme Replacement for Cognitive Decline in Mucopolysaccharidosis I	Completed	NCT00852358		laronidase
17	Treatment of High Risk, Inherited Lysosomal and Peroxisomal Disorders by Reduced-Intensity Hematopoietic Cell Transplantation and Low-Dose Total Body Irradiation With Marrow Boosting by Volumetric-Modulated Arc Therapy (VMAT)	Completed	NCT01626092		Campath-1H;Clofarabine;Melphalan;Cyclosporine A;Mycophenolate mofetil
18	The Nosology and Etiology of Leukodystrophies of Unknown Cause	Completed	NCT00001671
19	Stimulation of the Human Central and Peripheral Nervous System With a Magnetic Stimulator	Completed	NCT00001780
20	A Multi-Center, Low-Interventional Study With a Retrospective Component in Participants With Late-Onset Pompe Disease	Completed	NCT03893240
21	Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease: An International, Multicenter, Epidemiological Protocol	Completed	NCT02416661
22	A Pilot Study of Diet and Exercise Therapy in Pompe Disease	Completed	NCT02363153
23	Characterization of the Patient Population With Galactosialidosis	Completed	NCT01416467
24	Investigations Into Inborn Errors of Cholesterol Synthesis and Related Disorders	Recruiting	NCT00046202
25	Registry of Patients Diagnosed With Lysosomal Storage Diseases	Recruiting	NCT05619900
26	Investigation of Molecular and Cellular Mechanisms of Lysosomal Storage Diseases	Recruiting	NCT02000310
27	A Pilot Study for Systematic Neonatal Screening for Lysosomal Storage Diseases Using Tandem Mass Spectrometry	Recruiting	NCT04393701
28	A Multicentre, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral Vector (FLT190) in Subjects With Fabry Disease	Recruiting	NCT04455230
29	Identification and Characterization of Novel Coding, Splicing and Non-Coding Variants That Contribute to Genetic Disorders	Recruiting	NCT04399694
30	Biomarker for Maroteaux-Lamy Disease: BioMaroteaux-Lamy AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL	Active, not recruiting	NCT01458613
31	Fabry Disease in High-risk Patients With Left Ventricular Hypertrophy: Prevalence and Implementation of a Clinical Score	Enrolling by invitation	NCT04943991
32	Studies of Genetic Heterogeneity in Patients With Lysosomal Storage Disorders	Enrolling by invitation	NCT00001215
33	Expanded Access Protocol for CaspaCIDe T Cells From An HLA-Partially Matched Related Donor After Negative Selection of TCR αβ+T Cells In Pediatric Patients Affected by Hematological and Other Disorders	No longer available	NCT03639844		rimiducid
34	Natural History Study of Children With Metachromatic Leukodystrophy	Terminated	NCT01963650
35	A Natural History Study of Aspartylglucosaminuria	Terminated	NCT03853876
36	Complement Activation in the Lysosomal Storage Disorders	Withdrawn	NCT04189601

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

Genetic tests related to Lysosomal Storage Disease:

#	Genetic test	Affiliating Genes
1	Lysosomal Storage Disease ²⁸

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Anatomical Context for Lysosomal Storage Disease

Organs/tissues related to Lysosomal Storage Disease:

MalaCards : Spinal Cord, Bone Marrow, T Cells, Brain, Liver, Bone, Dorsal Root Ganglion

Sources

Publications for Lysosomal Storage Disease

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 5959)

#	Title	Authors	PMID	Year
1	Arylsulfatase B regulates interaction of chondroitin-4-sulfate and kininogen in renal epithelial cells. ⁵³ ⁶²	Bhattacharyya S...Tobacman JK	20152898	2010
2	Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones. ⁵³ ⁶²	Lee WC...Eckman CB	20410102	2010
3	Mucopolysaccharidosis VI. ⁵³ ⁶²	Valayannopoulos V...Turbeville S	20385007	2010
4	Site-specific analysis of N-linked oligosaccharides of recombinant lysosomal arylsulfatase A produced in different cell lines. ⁵³ ⁶²	Schroder S...Matzner U	19864504	2010
5	A self-inactivating gamma-retroviral vector reduces manifestations of mucopolysaccharidosis I in mice. ⁵³ ⁶²	Metcalf JA...Ponder KP	19844196	2010
6	Identification of the penta-EF-hand protein ALG-2 as a Ca2+-dependent interactor of mucolipin-1. ⁵³ ⁶²	Vergarajauregui S...Puertollano R	19864416	2009
7	Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). ⁵³ ⁶²	Dorboz I...Tunisian Leukodystrophy Study Group	19699491	2009
8	Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice. ⁵³ ⁶²	Malinowska M...Bigger BW	19632871	2009
9	Mannitol-facilitated CNS entry of rAAV2 vector significantly delayed the neurological disease progression in MPS IIIB mice. ⁵³ ⁶²	McCarty DM...Fu H	19587708	2009
10	Juvenile galactosialidosis with attacks of neuropathic pain and absence of sialyloligosacchariduria. ⁵³ ⁶²	Darin N...Mansson JE	19097920	2009
11	Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. ⁵³ ⁶²	Caciotti A...Morrone A	19568825	2009
12	Heterodimerization of the sialidase NEU1 with the chaperone protective protein/cathepsin A prevents its premature oligomerization. ⁵³ ⁶²	Bonten EJ...d'Azzo A	19666471	2009
13	In vivo and ex vivo evaluation of L-type calcium channel blockers on acid beta-glucosidase in Gaucher disease mouse models. ⁵³ ⁶²	Sun Y...Grabowski GA	19809509	2009
14	Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease. ⁵³ ⁶²	Maegawa GH...Mahuran DJ	19578116	2009
15	Deficiency in N-acetylgalactosamine-6-sulfate sulfatase results in collagen perturbations in cartilage of Morquio syndrome A patients. ⁵³ ⁶²	Bank RA...Everts V	19394256	2009
16	Giant lymphadenopathy infiltrated by gaucher cells mimicking lymphoma. ⁵³ ⁶²	Yagci B...Buyukpamukcu M	19213078	2009
17	The use of agalsidase alfa enzyme replacement therapy in the treatment of Fabry disease. ⁵³ ⁶²	Morel CF...Clarke JT	19368525	2009
18	Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells. ⁵³ ⁶²	Rigat B...Mahuran D	19167257	2009
19	Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. ⁵³ ⁶²	Pascual SI	20225018	2009
20	The endosomal network. ⁵³ ⁶²	Brooks DA	20040307	2009
21	Motor deficit in a Drosophila model of mucolipidosis type IV due to defective clearance of apoptotic cells. ⁵³ ⁶²	Venkatachalam K...Montell C	19041749	2008
22	A case of galactosialidosis with a homozygous Q49R point mutation. ⁵³ ⁶²	Matsumoto N...Nanba E	18396002	2008
23	Aptamer-based endocytosis of a lysosomal enzyme. ⁵³ ⁶²	Chen CH...Neufeld EF	18838694	2008
24	Improved retroviral vector design results in sustained expression after adult gene therapy in mucopolysaccharidosis I mice. ⁵³ ⁶²	Herati RS...Ponder KP	18613275	2008
25	Autophagic dysfunction in mucolipidosis type IV patients. ⁵³ ⁶²	Vergarajauregui S...Puertollano R	18550655	2008
26	Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients. ⁵³ ⁶²	Lin WD...Tsai FJ	18486607	2008
27	Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. ⁵³ ⁶²	Al Sawaf S...Hoffmann B	18618289	2008
28	Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. ⁵³ ⁶²	Harmatz P...MPS VI Study Group	18502162	2008
29	Retrospective diagnosis of feline GM2 gangliosidosis variant 0 (Sandhoff-like disease) in Japan: possible spread of the mutant allele in the Japanese domestic cat population. ⁵³ ⁶²	Yamato O...Arai T	18772556	2008
30	Immune response hinders therapy for lysosomal storage diseases. ⁵³ ⁶²	Ponder KP	18654672	2008
31	Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice. ⁵³ ⁶²	Ma X...Ponder KP	18479957	2008
32	Molecular investigations of a novel iduronate-2-sulfatase mutant in a Chinese patient. ⁵³ ⁶²	Lau KC...Lam CW	18331837	2008
33	Haplotype analysis suggests a single Balkan origin for the Gaucher disease [D409H;H255Q] double mutant allele. ⁵³ ⁶²	Santamaria R...Grinberg D	18429048	2008
34	Multiple sulfatase deficiency in a Turkish family resulting from a novel mutation. ⁵³ ⁶²	Yis U...Dirik E	18509892	2008
35	The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. ⁵³ ⁶²	Nugent T...Jones DT	18314010	2008
36	Lysosomes in iron metabolism, ageing and apoptosis. ⁵³ ⁶²	Kurz T...Brunk UT	18259769	2008
37	Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options. ⁵³ ⁶²	Gieselmann V	18339182	2008
38	Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation. ⁵³ ⁶²	Vergarajauregui S...Puertollano R	17988215	2008
39	Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease. ⁵³ ⁶²	Di Natale P...Fiumara A	17672828	2008
40	Human chitotriosidase: a potential new marker of sarcoidosis severity. ⁵³ ⁶²	Bargagli E...Rottoli P	18487875	2008
41	Pompe disease: current state of treatment modalities and animal models. ⁵³ ⁶²	Geel TM...Niezen-Koning KE	17826266	2007
42	Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance. ⁵³ ⁶²	Sun B...Koeberl DD	17924344	2007
43	The role of calcium and other ions in sorting and delivery in the late endocytic pathway. ⁵³ ⁶²	Luzio JP...Pryor PR	17956286	2007
44	[Fabry disease. An interdisciplinary challenge]. ⁵³ ⁶²	Cybulla M...Neumann HP	17940933	2007
45	[Hematological aspects of Gaucher disease]. ⁵³ ⁶²	Costello R...Sebahoun G	18228684	2007
46	Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study. ⁵³ ⁶²	Lucke T...Grigull L	17718826	2007
47	Gaucher disease: different clinical manifestations associated with a rare mutation (R48W) in a Lebanese family. ⁵³ ⁶²	El-Zahabi LM...Shamseddine A	17574891	2007
48	Production of recombinant beta-hexosaminidase A, a potential enzyme for replacement therapy for Tay-Sachs and Sandhoff diseases, in the methylotrophic yeast Ogataea minuta. ⁵³ ⁶²	Akeboshi H...Jigami Y	17557860	2007
49	Significantly increased lifespan and improved behavioral performances by rAAV gene delivery in adult mucopolysaccharidosis IIIB mice. ⁵³ ⁶²	Fu H...Muenzer J	17460717	2007
50	Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation. ⁵³ ⁶²	Stein J...Yaniv I	17033804	2007

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Genes for Lysosomal Storage Disease

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

(show top 50) (show all 83)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	AGA	Aspartylglucosaminidase	Protein Coding	43.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ 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	GBA1	Glucosylceramidase Beta 1	Protein Coding	36.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ 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	34.58	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Summaries (show sections)	17217652 9337875 16480701 (more) 18331837 9024795 17063374 18618289 9442913
4	SGSH	N-Sulfoglucosamine Sulfohydrolase	Protein Coding	33.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Summaries (show sections)	15146460
5	FUCA1	Alpha-L-Fucosidase 1	Protein Coding	32.98	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Summaries (show sections)	8401503 17427030 1281988 (more) 8399358 16008696 8504303 1873910 9039984
6	GLB1	Galactosidase Beta 1	Protein Coding	31.66	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	1946081 10338095
7	NEU1	Neuraminidase 1	Protein Coding	31.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Summaries (show sections)	19568825 9480870 11195014 (more) 18396002 9603439 19666471 12649068 15908988 11470272 8725271 12932252
8	NAGLU	N-Acetyl-Alpha-Glucosaminidase	Protein Coding	30.2	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications (show sections)	19587708 19632871 17460717
9	IDUA	Alpha-L-Iduronidase	Protein Coding	26.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	17718826 18479957 1339393 (more) 9134434 19844196 18654672 8527473 10356309 16435195 11159948 18613275
10	ARSA	Arylsulfatase A	Protein Coding	26.09	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ 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
11	CTNS	Cystinosin, Lysosomal Cystine Transporter	Protein Coding	25.11	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	10571941 15500372 15365816
12	GUSB	Glucuronidase Beta	Protein Coding	25.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	12591953 8083358 9616735 (more) 9134434 16636519 10832732 12700165 8707294 11124056 12406886 10834616 11856642 11273777 8513128 11238101 7644479 12556933
13	CLN3	CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin	Protein Coding	24.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	18314010
14	TPP1	Tripeptidyl Peptidase 1	Protein Coding	24.71	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	10470035 11445074 15158442 (more) 10762513 15582991 9989590
15	CTSA	Cathepsin A	Protein Coding	24.48	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	18396002 19097920 19666471 (more) 12649068 7503422 8725271 9636645
16	HEXA	Hexosaminidase Subunit Alpha	Protein Coding	24.17	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	16092933 17557860 8875224 (more) 1424119 7973467 14727180
17	HGSNAT	Heparan-Alpha-Glucosaminide N-Acetyltransferase	Protein Coding	24.02	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
18	HEXB	Hexosaminidase Subunit Beta	Protein Coding	23.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	16092933 8162015 18772556
19	MAN2B1	Mannosidase Alpha Class 2B Member 1	Protein Coding	23.05	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Publications (show sections)
20	GALNS	Galactosamine (N-Acetyl)-6-Sulfatase	Protein Coding	23.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Disorders (show sections)	16837223 19394256
21	MANBA	Mannosidase Beta	Protein Coding	23.04	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders Summaries (show sections)
22	GALC	Galactosylceramidase	Protein Coding	22.92	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	20410102 16352725
23	GAA	Alpha Glucosidase	Protein Coding	22.52	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	11949932 11991748 15668445 (more) 17924344 20225018 8575451 17826266 15515143
24	SMPD1	Sphingomyelin Phosphodiesterase 1	Protein Coding	22.04	DISEASES inferred ¹⁴ Novoseek inferred ⁵³ GeneCards inferred via : Publications (show sections)	1618760 7600574
25	GLA	Galactosidase Alpha	Protein Coding	19.02	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	16287034 8819626 15712228 (more) 16298216 17940933 19368525 15253767
26	MCOLN1	Mucolipin TRP Cation Channel 1	Protein Coding	18.27	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15070744 10352940 19041749 (more) 17988215 18550655 17956286 19864416
27	ARSB	Arylsulfatase B	Protein Coding	17.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1904721 12904606 15930196 (more) 18502162 18486607 20152898 16647419 1550123 11802522 15895715 20385007 17672828
28	PPT1	Palmitoyl-Protein Thioesterase 1	Protein Coding	17.31	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11589008 9648881
29	CHIT1	Chitinase 1	Protein Coding	16.91	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18487875
30	M6PR	Mannose-6-Phosphate Receptor, Cation Dependent	Protein Coding	16.84	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	18838694 20040307 8527473
31	SUMF1	Sulfatase Modifying Factor 1	Protein Coding	16.79	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	14563551
32	NPC1	NPC Intracellular Cholesterol Transporter 1	Protein Coding	16.43	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15632139
33	LIPA	Lipase A, Lysosomal Acid Type	Protein Coding	16.21	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11177564 17033804
34	PSAP	Prosaposin	Protein Coding	15.77	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11068181 14680985 16179529
35	NAGA	Alpha-N-Acetylgalactosaminidase	Protein Coding	15.34	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	11251574 7707696 2208741
36	GM2A	Ganglioside GM2 Activator	Protein Coding	14.34	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
37	GNS	Glucosamine (N-Acetyl)-6-Sulfatase	Protein Coding	13.84	DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)
38	CTSD	Cathepsin D	Protein Coding	12.69	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	15992379 14522241
39	ARSH	Arylsulfatase Family Member H	Protein Coding	12.25	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	1348358 17360554 14563551 (more) 10561464 16125993 18509892
40	CTSB	Cathepsin B	Protein Coding	11.46	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	10961902
41	SLC44A4	Solute Carrier Family 44 Member 4	Protein Coding	11.38	DISEASES inferred ¹⁴ GeneCards inferred via : Summaries (show sections)
42	MIR122	MicroRNA 122	RNA Gene	10.93	DISEASES inferred ¹⁴ ¹⁴
43	MIR199A1	MicroRNA 199a-1	RNA Gene	10.21	DISEASES inferred ¹⁴ ¹⁴
44	MIR21	MicroRNA 21	RNA Gene	10.07	DISEASES inferred ¹⁴ ¹⁴
45	MIR192	MicroRNA 192	RNA Gene	9.93	DISEASES inferred ¹⁴ ¹⁴
46	CCR6	C-C Motif Chemokine Receptor 6	Protein Coding	9.56	DISEASES inferred ¹⁴ ¹⁴
47	GPT	Glutamic--Pyruvic Transaminase	Protein Coding	9.33	DISEASES inferred ¹⁴
48	MIR34A	MicroRNA 34a	RNA Gene	9.22	DISEASES inferred ¹⁴ ¹⁴
49	INS	Insulin	Protein Coding	9.08	DISEASES inferred ¹⁴
50	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	8.99	DISEASES inferred ¹⁴

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 directly related to Lysosomal Storage Disease:

#	Pathway	Source
1	Defective NEU1 causes sialidosis	Reactome ⁶⁶

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

(show all 11)

#	Super pathways	Score	Top Affiliating Genes
1	Innate Immune System ⁶⁶ Show member pathways Immune System ⁶⁶ Neutrophil degranulation ⁶⁶	13.77	NEU1 MAN2B1 HGSNAT HEXB GUSB GLB1
2	Metabolism ⁶⁶ Show member pathways Metabolism of lipids ⁶⁶	13.7	ARSA CTSA GALNS GBA1 GLB1 GUSB
3	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.64	CTSA GALNS GLB1 GUSB HEXA HEXB
4	Glycosaminoglycan metabolism ⁶⁶ Show member pathways chondroitin sulfate biosynthesis (late stages) ⁶¹ Defective HEXA causes GM2G1 ⁶⁶ Defective HEXB causes GM2G2 ⁶⁶ Glycosaminoglycan degradation ⁷⁴ 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 MPS I - Hurler syndrome ⁶⁶ MPS II - Hunter syndrome ⁶⁶ MPS IIIA - Sanfilippo syndrome A ⁶⁶ MPS IIIB - Sanfilippo syndrome B ⁶⁶ MPS IIIC - Sanfilippo syndrome C ⁶⁶ MPS IIID - Sanfilippo syndrome D ⁶⁶ MPS IV - Morquio syndrome A ⁶⁶ MPS IX - Natowicz syndrome ⁶⁶ MPS VI - Maroteaux-Lamy syndrome ⁶⁶ MPS VII - Sly syndrome ⁶⁶ Mucopolysaccharidoses ⁶⁶	12.77	SGSH NAGLU MAN2B1 IDUA IDS HGSNAT
5	Sphingolipid metabolism ⁶⁶ Show member pathways Biosynthesis and turnover of 1-deoxy-sphingoid bases ⁷⁴ Glycosphingolipid metabolism ⁶⁶ Sphingolipid de novo biosynthesis ⁶⁶	12.22	NEU1 HEXB HEXA GLB1 GBA1 CTSA
6	Chondroitin sulfate/dermatan sulfate metabolism ⁶⁶ Show member pathways A tetrasaccharide linker sequence is required for GAG synthesis ⁶⁶ 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 Dermatan sulfate biosynthesis ⁶⁶ dermatan sulfate biosynthesis (late stages) ⁶¹ Diseases associated with glycosaminoglycan metabolism ⁶⁶	12.19	IDUA IDS HEXB HEXA
7	Diseases of glycosylation ⁶⁶ Show member pathways Defective ALG1 causes CDG-1k ⁶⁶ Defective ALG11 causes CDG-1p ⁶⁶ Defective ALG12 causes CDG-1g ⁶⁶ Defective ALG14 causes ALG14-CMS ⁶⁶ Defective ALG2 causes CDG-1i ⁶⁶ Defective ALG3 causes CDG-1d ⁶⁶ Defective ALG6 causes CDG-1c ⁶⁶ Defective ALG8 causes CDG-1h ⁶⁶ Defective ALG9 causes CDG-1l ⁶⁶ Defective DPAGT1 causes CDG-1j, CMSTA2 ⁶⁶ Defective GNE causes sialuria, NK and IBM2 ⁶⁶ Defective MPDU1 causes CDG-1f ⁶⁶ Defective NEU1 causes sialidosis ⁶⁶ Defective RFT1 causes CDG-1n ⁶⁶ Diseases associated with glycosylation precursor biosynthesis ⁶⁶ Diseases associated with N-glycosylation of proteins ⁶⁶ Diseases of metabolism ⁶⁶ MPS IV - Morquio syndrome B ⁶⁶	12.05	SGSH NEU1 NAGLU IDUA IDS HGSNAT
8	Keratan sulfate biosynthesis ⁶⁶ Show member pathways Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) ⁶⁶ Defective CHST6 causes MCDC1 ⁶⁶ Defective ST3GAL3 causes MCT12 and EIEE15 ⁶⁶ Keratan sulfate degradation ⁶⁶ Keratan sulfate/keratin metabolism ⁶⁶	11.75	HEXB HEXA GLB1 GALNS
9	Defective EXT2 causes exostoses 2 ⁶⁶ Show member pathways Defective EXT1 causes exostoses 1, TRPS2 and CHDS ⁶⁶ Glypican pathway ⁶¹ HS-GAG degradation ⁶⁶ Proteoglycan syndecan-mediated signaling events ⁶¹	11.46	GLB1 GUSB HGSNAT IDS IDUA NAGLU
10	Diseases of carbohydrate metabolism ⁶⁶ Show member pathways Glycogen storage disease type Ib (SLC37A4) ⁶⁶ Glycogen storage disease type II (GAA) ⁶⁶ Glycogen storage diseases ⁶⁶ Severe congenital neutropenia type 4 (G6PC3) ⁶⁶	11.29	SGSH NAGLU IDUA IDS HGSNAT GUSB
11	Degradation pathway of sphingolipids, including diseases ⁷⁴	10.87	NEU1 HEXB HEXA GLB1 GBA1

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	extracellular exosome	GO:0070062	10.46	ARSA CTNS CTSA FUCA1 GALNS GBA1
2	intracellular membrane-bounded organelle	GO:0043231	10.27	CTNS CTSA FUCA1 GLB1 GUSB HEXA
3	lysosome	GO:0005764	10.2	TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA
4	lysosomal membrane	GO:0005765	10.13	NEU1 HGSNAT GBA1 CTNS CLN3
5	azurophil granule lumen	GO:0035578	10.11	AGA ARSA CTSA FUCA1 GALNS GLB1
6	lysosomal lumen	GO:0043202	9.85	ARSA CTSA FUCA1 GALNS GBA1 GLB1
7	azurophil granule	GO:0042582	9.71	HEXB HEXA
8	beta-N-acetylhexosaminidase complex	GO:1905379	9.62	HEXB HEXA

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

(show all 20)

#	Name	GO ID	Score	Top Affiliating Genes
1	lipid metabolic process	GO:0006629	10.18	ARSA FUCA1 GBA1 HEXA HEXB NEU1
2	lysosome organization	GO:0007040	10.1	TPP1 NAGLU HEXB HEXA GBA1 CLN3
3	neuromuscular process controlling balance	GO:0050885	10.08	TPP1 HEXB HEXA CLN3
4	carbohydrate metabolic process	GO:0005975	10.07	NEU1 MAN2B1 IDUA HEXB HEXA GUSB
5	lipid storage	GO:0019915	10.01	HEXB HEXA GBA1
6	hyaluronan catabolic process	GO:0030214	9.99	HEXB HEXA GUSB
7	oligosaccharide catabolic process	GO:0009313	9.97	NEU1 MAN2B1 HEXB
8	ganglioside catabolic process	GO:0006689	9.93	NEU1 HEXB HEXA
9	chondroitin sulfate catabolic process	GO:0030207	9.91	GUSB HEXB IDUA
10	glycosaminoglycan metabolic process	GO:0030203	9.89	HEXB HEXA
11	lysosomal protein catabolic process	GO:1905146	9.88	TPP1 CLN3
12	protein deglycosylation	GO:0006517	9.86	MAN2B1 AGA
13	dermatan sulfate catabolic process	GO:0030209	9.86	HEXA HEXB IDS IDUA
14	maintenance of location in cell	GO:0051651	9.85	HEXB HEXA
15	heparan sulfate proteoglycan catabolic process	GO:0030200	9.85	SGSH NAGLU IDS HGSNAT GUSB
16	glycosaminoglycan catabolic process	GO:0006027	9.8	SGSH NAGLU IDUA IDS GUSB GLB1
17	sexual reproduction	GO:0019953	9.76	HEXB HEXA
18	response to pH	GO:0009268	9.74	GBA1 ARSA
19	carbohydrate derivative metabolic process	GO:1901135	9.58	HEXA HEXB NAGLU
20	metabolic process	GO:0008152	9.32	NEU1 NAGLU MAN2B1 IDUA HEXB HEXA

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

#	Name	GO ID	Score	Top Affiliating Genes
1	sulfuric ester hydrolase activity	GO:0008484	9.8	SGSH IDS GALNS ARSA
2	arylsulfatase activity	GO:0004065	9.73	GALNS ARSA
3	sulfatide binding	GO:0120146	9.71	TPP1 CLN3
4	beta-N-acetylhexosaminidase activity	GO:0004563	9.67	HEXB HEXA
5	hydrolase activity, acting on glycosyl bonds	GO:0016798	9.65	NEU1 NAGLU MAN2B1 IDUA HEXB HEXA
6	hydrolase activity, hydrolyzing O-glycosyl compounds	GO:0004553	9.63	GLB1 GUSB HEXA HEXB IDUA
7	N-acetyl-beta-D-galactosaminidase activity	GO:0102148	9.62	HEXB HEXA
8	hydrolase activity	GO:0016787	9.55	TPP1 SGSH NEU1 NAGLU MAN2B1 IDUA

Sources

Sources for Lysosomal Storage Disease

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: LYS002 MIFTS: 51	Lysosomal Storage Disease Categories: Genetic diseases, Metabolic diseases	Data Licensing For inquiries, contact: [email protected]
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