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

Summaries for Lysosomal Storage Disease

Sources:
⁹Disease Ontology, ⁶⁴Wikipedia, ³²MalaCards
See all sources

Disease Ontology:⁹ An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function.

MalaCards based summary: Lysosomal Storage Disease, also known as inborn lysosomal enzyme disorder, is related to fucosidosis and mucopolysaccharidosis. An important gene associated with Lysosomal Storage Disease is AGA (aspartylglucosaminidase), and among its related pathways are Heparan sulfate/heparin (HS-GAG) metabolism and Glycosaminoglycan degradation. The compounds percoll and heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and bone marrow, and related mouse phenotypes are renal/urinary system and skeleton.

Wikipedia:⁶⁴ Lysosomal storage diseases (LSDs; /?la?s??so?m?l/) are a group of approximately 50 rare inherited... more...

Aliases & Classifications for Lysosomal Storage Disease

Sources:
³¹LifeMap Discovery®, ⁹Disease Ontology, ¹¹DISEASES, ⁶¹UMLS, ⁴⁴Novoseek, ⁵⁶SNOMED-CT, ³⁴MeSH, ³⁹NCIt
See all sources

Lysosomal Storage Disease, Aliases & Descriptions:

Name: Lysosomal Storage Disease ³¹ ⁹ ¹¹

Inborn Lysosomal Enzyme Disorder ⁹ ⁶¹

Disorder of Lysosomal Enzyme ⁹ ⁶¹

Lysosomal Storage Diseases ⁴⁴ ⁶¹

Lysosomal Storage Metabolism Disorder ⁹

Classifications:

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

External Ids:

Disease Ontology⁹ DOID:3211

MeSH³⁴ D016464

SNOMED-CT⁵⁶ 23585005

NCIt³⁹ C61250

UMLS⁶¹ C0085078

Related Diseases for Lysosomal Storage Disease

Sources:
¹⁸GeneCards, ¹⁹GeneDecks
See all sources

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

(show top 50) (show all 62)

id	Related Disease	Score	Top Affiliating Genes
1	fucosidosis	31.1	FUCA1, AGA
2	mucopolysaccharidosis	30.9	IDS, SGSH, HGSNAT
3	beta-mannosidosis	30.8	MANBA, SGSH
4	hydrops fetalis	30.6	NEU1, GBA
5	mucolipidosis ii	30.1	NEU1, FUCA1
6	fabry disease	29.9	GBA, FUCA1
7	mannosidosis	10.5
8	sly syndrome	10.5
9	niemann-pick disease	10.4
10	aspartylglucosaminuria	10.4
11	neuronitis	10.4
12	galactosialidosis	10.4
13	alpha-mannosidosis	10.3
14	hematopoietic stem cell transplantation	10.3
15	cystinosis	10.3
16	mucolipidosis	10.3
17	gangliosidosis	10.3
18	retinitis	10.3
19	non-immune hydrops fetalis	10.3
20	immune hydrops fetalis	10.3
21	neuronal ceroid-lipofuscinoses	10.1
22	chediak-higashi syndrome	10.1
23	krabbe disease	10.1
24	metachromatic leukodystrophy	10.1
25	mucopolysaccharidosis ii	10.1
26	mucopolysaccharidosis vi	10.1
27	osteopetrosis	10.1
28	glycogen storage disease ii	10.1
29	lipoid proteinosis	10.1
30	cholesterol ester storage disease	10.1
31	infertility	10.1
32	batten disease	10.1
33	pycnodysostosis	10.1
34	sialuria	10.1
35	amyloidosis	10.1
36	leukodystrophy	10.1
37	lipid storage disease	10.1
38	neuronal ceroid lipofuscinosis	10.1
39	synucleinopathy	10.1
40	tauopathy	10.1
41	thyroiditis	10.1
42	dwarfism	10.1
43	acid sphingomyelinase deficiency	10.1
44	cholesteryl ester storage disease	10.1
45	glycoproteinosis	10.1
46	gm1 gangliosidosis type 1	10.1
47	gm1 gangliosidosis type 2	10.1
48	infantile free sialic acid storage disease	10.1
49	lipogranulomatosis	10.1
50	mucopolysaccharidosis type iiic	10.1

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

Symptoms for Lysosomal Storage Disease

Drugs & Therapeutics for Lysosomal Storage Disease

Sources:
⁴¹NIH Clinical Center, ⁶ClinicalTrials, ³¹LifeMap Discovery®, ⁶¹UMLS, ⁴⁰NDF-RT
See all sources

Drug clinical trials:

Search ClinicalTrials for Lysosomal Storage Disease

Search NIH Clinical Center for Lysosomal Storage Disease

Cell-based therapeutics:

The database of embryonic development, stem cell research and regenerative medicine

Read about Lysosomal Storage Disease cell therapies at LifeMap Discovery.

Stem-cell-based therapeutic approaches for Lysosomal Storage Disease:

	ALD-601, umbilical cord blood cells for early infantile-onset lysosomal storage diseases
	Hemacord

Embryonic/Adult Cultured Cells Related to Lysosomal Storage Disease:

	Umbilical cord blood ALDH+ cells (ALD-151), PMID: 17882722
	Umbilical cord blood-derived hematopoietic progenitor cells (HEMACORD, PMID: 9828244

Genetic Tests for Lysosomal Storage Disease

Anatomical Context for Lysosomal Storage Disease

Sources:
³²MalaCards
See all sources

MalaCards organs/tissues related to Lysosomal Storage Disease:

³²

Brain, Bone, Bone marrow, Liver, Small intestine, Thyroid, Skin, Testes, Myeloid, Hypothalamus, Fetal liver, Pituitary

Animal Models for Lysosomal Storage Disease or affiliated genes

Sources:
³⁶MGI
See all sources

MGI Mouse Phenotypes related to Lysosomal Storage Disease:

³⁶

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	renal/urinary system phenotype	MP:0005367	8.3	SGSH, NEU1, MANBA, AGA
2	skeleton phenotype	MP:0005390	8.2	NEU1, SGSH, IDS, GBA
3	liver/biliary system phenotype	MP:0005370	8.0	AGA, MANBA, NEU1, SGSH, GBA
4	integument phenotype	MP:0010771	7.9	GBA, IDS, SGSH, NEU1, AGA
5	behavior/neurological phenotype	MP:0005386	7.5	GBA, IDS, SGSH, NEU1, MANBA, AGA
6	cellular phenotype	MP:0005384	7.4	GBA, IDS, SGSH, NEU1, MANBA, AGA
7	nervous system phenotype	MP:0003631	7.4	GBA, IDS, SGSH, NEU1, MANBA, AGA
8	immune system phenotype	MP:0005387	7.4	GBA, IDS, SGSH, NEU1, MANBA

Publications for Lysosomal Storage Disease

Sources:
⁵¹PubMed
See all sources

Articles related to Lysosomal Storage Disease:

(show top 50) (show all 177)

id	Title	Authors	Year
1	Very prolonged liposomal amphotericin B use leading to a lysosomal storage disease. (24787480)	Michot J.M.... Lambotte O.	2014
2	Cystinosis as a lysosomal storage disease with multiple mutant alleles: Phenotypic-genotypic correlations. (24255892)	Al-Haggar M.	2013
3	Reply-nonimmune hydrops fetalis and lysosomal storage diseases. (24120156)	Surmeli-Onay O.... Korkmaz A.	2013
4	Nonimmune hydrops fetalis and lysosomal storage diseases. (24120157)	Bellini C.	2013
5	Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease. (22216298)	Geng H.... Maegawa G.H.	2011
6	New strategies for enzyme replacement therapy for lysosomal storage diseases. (20345279)	Grubb J.H.... Sly W.S.	2010
7	Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6. (20020536)	Kurze A.K.... Braulke T.	2010
8	Spontaneous lysosomal storage disease caused by Sida carpinifolia (Malvaceae) poisoning in cattle. (19261649)	Furlan F.H.... Gava A.	2009
9	Immune response hinders therapy for lysosomal storage diseases. (18654672)	Ponder K.P.	2008
10	A case of suspected lysosomal storage disease in a neonatal Japanese black calf. (16466460)	Mikami O.... Nakajima Y.	2006
11	Biomarkers in lysosomal storage diseases (21290672)	Mehta A.... Sunder-Plassmann G.	2006
12	Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. (16532490)	Fukuda T.... Raben N.	2006
13	History of lysosomal storage diseases: an overview (21290707)	Mehta A.... Sunder-Plassmann G.	2006
14	Attenuation of murine lysosomal storage disease by allogeneic neonatal bone marrow transplantation using costimulatory blockade and donor lymphocyte infusion without myeloablation. (16487752)	Lessard M.D.... Soper B.W.	2006
15	Early onset of lysosomal storage disease in a murine model of mucopolysaccharidosis type VII: undegraded substrate accumulates in many tissues in the fetus and very young MPS VII mouse. (16222480)	Vogler C.... Barker J.	2005
16	Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases. (15542394)	Ramsay S.L.... Meikle P.J.	2004
17	Widespread gene transduction to the central nervous system by adenovirus in utero: implication for prenatal gene therapy to brain involvement of lysosomal storage disease. (15459963)	Shen J.S.... Eto Y.	2004
18	Transplanted ER-MP12hi20-58med/hi myeloid progenitors produce resident macrophages from marrow that are therapeutic for lysosomal storage disease. (14757436)	Soper B.W.... Barker J.E.	2004
19	Mitral and aortic valve thickening associated with galactosialidosis: echocardiographic features of a lysosomal storage disease. (14536008)	Bursi F.... O'Leary P.W.	2003
20	The status of hematopoietic stem cell transplantation in lysosomal storage disease. (14684234)	Malatack J.J.... Bayever E.	2003
21	Brain-directed gene therapy for lysosomal storage disease: going well beyond the blood- brain barrier. (11983877)	Sly W.S.... Vogler C.	2002
22	Murine mucopolysaccharidosis VIL: impact of therapies on the phenotype, clinical course, and pathology in a model of a lysosomal storage disease. (11779044)	Vogler C.... Sly W.S.	2001
23	Lysosomal storage disease caused by Sida carpinifolia poisoning in goats. (10714644)	Driemeier D.... Barros S.S.	2000
24	Gene therapy/cell therapy for lysosomal storage disease. (10863945)	Eto Y.... Ohashi T.	2000
25	Abnormal immune function in vivo in a murine model of lysosomal storage disease. (10832733)	Daly T.M.... Sands M.S.	2000
26	Hematopoietic stem cell gene therapy for Niemann-Pick disease and other lysosomal storage diseases. (11001572)	Schuchman E.H.	1999
27	Murine mucopolysaccharidosis type VII: the impact of therapies on the clinical course and pathology in a murine model of lysosomal storage disease. (9728337)	Vogler C.... Sly W.S.	1998
28	Hydrops fetalis: manifestation in lysosomal storage diseases including Farber disease. (9128814)	Kattner E.... Harzer K.	1997
29	Lysosomal storage disease in an emu (Dromaius novaehollandiae). (8740717)	Kim D.Y.... Taylor H.W.	1996
30	Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis). (8740579)	Piraud M.... Maire I.	1996
31	A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II). (8817337)	Raben N.... Plotz P.H.	1996
32	Acid sphingomyelinase-deficient mice mimic the neurovisceral form of human lysosomal storage disease (Niemann-Pick disease). (7600574)	Otterbach B.... Stoffel W.	1995
33	Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease. (8159689)	Walkley S.U.... Wurzelmann S.	1994
34	Busulfan disposition below the age of three: alteration in children with lysosomal storage disease. (8338934)	Vassal G.... Gluckman E.	1993
35	Adult-onset lysosomal storage disease in a Schipperke dog: clinical, morphological and biochemical studies. (8213091)	Knowles K.... Freden G.O.	1993
36	Inherited lysosomal storage disease in an English springer spaniel. (1559875)	Keller C.B.... LaMarre J.	1992
37	Insulin-like growth factors in lysosomal storage disease. (1728540)	Jaeggi-Groisman S.E.... Froesch E.R.	1992
38	Lysosomal storage diseases presenting as transient or persistent hydrops fetalis. (1799421)	Bonduelle M.... Liebaers I.	1991
39	Long-term neurological effects of bone marrow transplantation in a canine lysosomal storage disease. (3145485)	Shull R.M.... Constantopoulos G.C.	1988
40	Inherited lysosomal storage disease associated with deficiencies of beta-galactosidase and alpha-neuraminidase in sheep. (3146925)	Ahern-Rindell A.J.... Parish S.M.	1988
41	Beta-galactosidase activity in fibroblasts and tissues from sheep with a lysosomal storage disease. (3149466)	Ahern-Rindell A.J.... Prieur D.J.	1988
42	Morphological and enzymatic heterogeneity of suramin-induced lysosomal storage disease in some tissues of mice and rats. (2875899)	MarjomAoki V.... Salminen A.	1986
43	Familial lysosomal storage disease with generalized vacuolization and sialic aciduria. Sporadic Salla disease. (4010893)	Wolburg-Buchholz K.... Harzer K.	1985
44	Direct enzyme transfer from lymphocytes corrects a lysosomal storage disease. (4015639)	Abraham D.... Winchester B.	1985
45	Congenital ascites as a presenting sign of lysosomal storage disease. (6420531)	Gillan J.E.... Cutz E.	1984
46	Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseases. (6626569)	Kudoh T.... Wenger D.A.	1983
47	Biochemical studies on a lysosomal storage disease in Abyssinian cats. (6646655)	Lange A.L.... Maree C.C.	1983
48	Isolated acid neuraminidase deficiency: a distinct lysosomal storage disease. (610425)	Kelly T.E.... Graetz G.	1977
49	GM2 ganglioside lysosomal storage disease in cats with beta-hexosaminidase deficiency. (404709)	Cork L.C.... Rattazzi M.C.	1977
50	Letter: Intestinal biopsy in lysosomal storage disease. (4139453)	Den Tandt W.R.... Eggermont E.	1974

Genes related to Lysosomal Storage Disease

Sources:
¹⁸GeneCards, ¹antibodies-online, ⁴⁵Novus Biologicals
See all sources

Genes related to Lysosomal Storage Disease:

- Elite gene

id	Symbol	Description	Score	Implication
1	AGA	aspartylglucosaminidase	21.49	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
2	SGSH	N-sulfoglucosamine sulfohydrolase	18.99	GeneCards inferred via : Disorders, Summaries (show sections)
3	HGSNAT	heparan-alpha-glucosaminide N-acetyltransferase	16.49	GeneCards inferred via : Disorders, Summaries (show sections)
4	IDS	iduronate 2-sulfatase	13.99	GeneCards inferred via : Disorders, Summaries (show sections)
5	FUCA1	fucosidase, alpha-L- 1, tissue	11.49	GeneCards inferred via : Publications, Disorders, Summaries (show sections)
6	GBA	glucosidase, beta, acid	8.99	GeneCards inferred via : Disorders, Summaries (show sections)
7	NEU1	sialidase 1 (lysosomal sialidase)	6.49	GeneCards inferred via : Disorders, Summaries (show sections)
8	MANBA	mannosidase, beta A, lysosomal	3.99	GeneCards inferred via : Disorders, Summaries (show sections)

Products for genes related to Lysosomal Storage Disease disease:

id	Company	Proteins	Lysates	Antibodies	Kits and Assays
1	Antibodies-online	8	-	8	8
2	Novus Biologicals	8	7	8	-

Variations for Lysosomal Storage Disease

Expression for genes affiliated with Lysosomal Storage Disease

Sources:
²BioGPS, ¹⁶Gene Expression Omnibus DataSets
See all sources

Expression patterns in normal tissues for genes affiliated with Lysosomal Storage Disease

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

Pathways for genes affiliated with Lysosomal Storage Disease

Sources:
⁴⁹PathCards, ⁵⁴Reactome, ³⁷NCBI BioSystems Database, ³⁰KEGG
See all sources

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

id	Super pathways (with members indented)	Score	Top Affiliating Genes
1	Heparan sulfate/heparin (HS-GAG) metabolism⁵⁴ Show member pathways HS-GAG biosynthesis⁵⁴ HS-GAG degradation⁵⁴ Glypican pathway³⁷	9.6	IDS, SGSH
2	Glycosaminoglycan degradation³⁰ Show member pathways Interaction With Cumulus Cells⁵⁴	9.2	HGSNAT, IDS, SGSH
3	Sphingolipid metabolism⁵⁴ Show member pathways Sphingolipid Metabolism³⁷ Sphingolipid metabolism³⁰ Sphingolipid de novo biosynthesis⁵⁴ Glycosphingolipid metabolism⁵⁴	9.0	NEU1, GBA
4	Metabolism⁵⁴ Show member pathways Metabolic pathways³⁰ Metabolism of lipids and lipoproteins⁵⁴	7.8	GBA, HGSNAT, NEU1, SGSH, IDS
5	Other glycan degradation³⁰	7.6	AGA, MANBA, NEU1, FUCA1, GBA
6	Lysosome³⁰	6.4	IDS, NEU1, MANBA, HGSNAT, AGA, FUCA1

Compounds for genes affiliated with Lysosomal Storage Disease

Sources:
⁴⁴Novoseek, ²⁵HMDB, ⁶⁰Tocris Bioscience, ¹²DrugBank
See all sources

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

(show all 34)

id	Compound	Score	Top Affiliating Genes
1	percoll⁴⁴	9.7	FUCA1, GBA
2	heparan sulfate⁴⁴ ²⁵	10.6	IDS, SGSH, HGSNAT
3	con a⁴⁴	9.5	NEU1, FUCA1
4	glutaraldehyde⁴⁴	9.5	FUCA1, NEU1
5	castanospermine⁴⁴	9.4	NEU1, GBA
6	asparagine⁴⁴	9.4	AGA, GBA
7	glycolipid⁴⁴	9.4	NEU1, GBA
8	Lactosylceramide (d18:1/24:0)²⁵	9.4	GBA, NEU1
9	Lactosylceramide (d18:1/22:0)²⁵	9.4	GBA, NEU1
10	Lactosylceramide (d18:1/18:0)²⁵	9.4	GBA, NEU1
11	Galactosylceramide (d18:1/22:0)²⁵	9.4	NEU1, GBA
12	glycosaminoglycan⁴⁴	9.3	SGSH, IDS
13	Galactosylceramide (d18:1/24:1(15Z))²⁵	9.3	NEU1, GBA
14	Galactosylceramide (d18:1/26:1(17Z))²⁵	9.3	NEU1, GBA
15	Galactosylceramide (d18:1/20:0)²⁵	9.3	GBA, NEU1
16	Galactosylceramide (d18:1/16:0)²⁵	9.3	NEU1, GBA
17	Galactosylceramide (d18:1/18:0)²⁵	9.3	NEU1, GBA
18	Galactosylceramide (d18:1/18:1(9Z))²⁵	9.3	NEU1, GBA
19	Lactosylceramide (d18:1/26:1(17Z))²⁵	9.3	GBA, NEU1
20	Lactosylceramide (d18:1/26:0)²⁵	9.3	GBA, NEU1
21	Lactosylceramide (d18:1/25:0)²⁵	9.2	GBA, NEU1
22	Lactosylceramide (d18:1/24:1(15Z))²⁵	9.2	GBA, NEU1
23	ganglioside⁴⁴	9.2	NEU1, FUCA1
24	Lactosylceramide (d18:1/16:0)²⁵	9.2	GBA, NEU1
25	n-acetylglucosamine⁴⁴	9.2	FUCA1, NEU1, AGA
26	Lactosylceramide (d18:1/12:0)²⁵	9.1	GBA, NEU1
27	sialic acid⁴⁴	9.1	NEU1, FUCA1
28	galactose⁴⁴	9.0	GBA, NEU1
29	1-deoxynojirimycin⁶⁰ ⁴⁴ ¹²	10.9	NEU1, FUCA1, GBA
30	cysteine⁴⁴	8.6	GBA, IDS, NEU1, AGA
31	mannose 6-phosphate⁴⁴ ²⁵	9.6	AGA, NEU1, FUCA1, GBA
32	Water²⁵	8.4	NEU1, IDS, FUCA1, GBA
33	mannose⁴⁴	8.4	GBA, FUCA1, NEU1, MANBA
34	polysaccharide⁴⁴	8.4	MANBA, NEU1, FUCA1, GBA

GO Terms for genes affiliated with Lysosomal Storage Disease

Sources:
¹⁷Gene Ontology
See all sources

Cellular components related to Lysosomal Storage Disease according to GeneCards/GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal membrane	GO:005765	8.6	HGSNAT, NEU1, GBA
2	lysosomal lumen	GO:043202	8.1	NEU1, SGSH, IDS, GBA
3	lysosome	GO:005764	8.0	FUCA1, NEU1, MANBA, AGA

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

id	Name	GO ID	Score	Top Affiliating Genes
1	glycosaminoglycan metabolic process	GO:030203	9.2	IDS, SGSH, HGSNAT
2	sphingolipid metabolic process	GO:006665	9.0	NEU1, GBA
3	glycosaminoglycan catabolic process	GO:006027	8.8	HGSNAT, SGSH, IDS, FUCA1
4	glycosphingolipid metabolic process	GO:006687	8.7	NEU1, GBA
5	carbohydrate metabolic process	GO:005975	8.7	HGSNAT, SGSH, IDS, GBA
6	small molecule metabolic process	GO:044281	7.7	GBA, IDS, SGSH, NEU1, HGSNAT

Products for genes affiliated with Lysosomal Storage Disease

Antibodies
Proteins
Lysates

Antibodies
Proteins
Kits and Assays

Sources for Lysosomal Storage Disease

¹antibodies-online

²BioGPS

³BitterDB

⁴CDC

⁵Cell Signaling Technology

⁶ClinicalTrials

⁷Clinvar

⁸dbSNP

⁹Disease Ontology

¹⁰diseasecard

¹¹DISEASES

¹²DrugBank

¹³EMD Millipore

¹⁴ExPASy

¹⁵FMA

¹⁶Gene Expression Omnibus DataSets

¹⁷Gene Ontology

¹⁸GeneCards

¹⁹GeneDecks

²⁰GeneReviews

²¹GeneTests

²²Genetics Home Reference

²³GTR

²⁴HGMD

²⁵HMDB

²⁶ICD10

²⁷ICD10 via Orphanet

²⁸ICD9CM

²⁹IUPHAR

³⁰KEGG

³¹LifeMap Discovery®

³²MalaCards

³³MedlinePlus

³⁴MeSH

³⁵MESH via Orphanet

³⁶MGI

³⁷NCBI BioSystems Database

³⁸NCBI Bookshelf

³⁹NCIt

⁴⁰NDF-RT

⁴¹NIH Clinical Center

⁴²NIH Rare Diseases

⁴³NINDS

⁴⁴Novoseek

⁴⁵Novus Biologicals

⁴⁶OMIM

⁴⁷OMIM via Orphanet

⁴⁸Orphanet

⁴⁹PathCards

⁵⁰PharmGKB

⁵¹PubMed

⁵²QIAGEN

⁵³R&D Systems

⁵⁴Reactome

⁵⁵SinoBiological

⁵⁶SNOMED-CT

⁵⁷SNOMED-CT via Orphanet

⁵⁸The Human Phenotype Ontology

⁵⁹Thomson Reuters

⁶⁰Tocris Bioscience

⁶¹UMLS

⁶²UMLS via Orphanet

⁶³UniProtKB/Swiss-Prot

⁶⁴Wikipedia

MCID: LYS002 MIFTS: 53	Lysosomal Storage Disease malady Metabolic diseases category
8 genes, 12 tissues, 62 related diseases, clinical trials Download this MalaCard Expand all tables

Lysosomal Storage Disease malady