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

MCID: LYS028 MIFTS: 18	Lysosomal Glycogen Storage Disease Categories: Metabolic diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Lysosomal Glycogen Storage Disease

MalaCards integrated aliases for Lysosomal Glycogen Storage Disease:

Name: Lysosomal Glycogen Storage Disease ⁵⁸

Classifications:

MalaCards categories:
Global: Metabolic diseases Rare diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Other disorders of carbohydrate metabolism

Glycogen storage disease

Orphanet: ⁵⁸

Inborn errors of metabolism

External Ids:

ICD10 via Orphanet ³³ E74.0

Orphanet ⁵⁸ ORPHA309337

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Summaries for Lysosomal Glycogen Storage Disease

MalaCards based summary : Lysosomal Glycogen Storage Disease is related to danon disease and glycogen storage disease. An important gene associated with Lysosomal Glycogen Storage Disease is LAMP2 (Lysosomal Associated Membrane Protein 2), and among its related pathways/superpathways are Synthesis of substrates in N-glycan biosythesis and Lysosome. Affiliated tissues include skeletal muscle.

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Related Diseases for Lysosomal Glycogen Storage Disease

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

(show all 18)

#	Related Disease	Score	Top Affiliating Genes
1	danon disease	32.6	LAMP2 GAA
2	glycogen storage disease	30.3	MB LAMP2 GAA
3	atrial standstill 1	30.0	LAMP2 GAA
4	glycogen storage disease ii	30.0	LAMP2 GAA
5	hypertrophic cardiomyopathy	29.7	MB LAMP2 GAA
6	myopathy	29.6	SLC17A5 MB LAMP2 GAA
7	myopathy, autophagic vacuolar, infantile-onset	10.1
8	motor neuron disease	10.1
9	muscular glycogenosis	10.1
10	phosphatase, acid, of tissues	10.0	LAMP2 GAA
11	salla disease	10.0	SLC17A5 LAMP2
12	myopathy, x-linked, with excessive autophagy	10.0	LAMP2 GAA
13	compartment syndrome	9.8	SLC17A5 MB
14	creatine phosphokinase, elevated serum	9.7	MB GAA
15	glycogen storage disease v	9.7	MB GAA
16	isolated elevated serum creatine phosphokinase levels	9.7	MB GAA
17	neuromuscular disease	9.4	MB GAA DPAGT1
18	dilated cardiomyopathy	9.2	MB LAMP2 GAA

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

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Symptoms & Phenotypes for Lysosomal Glycogen Storage Disease

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Drugs & Therapeutics for Lysosomal Glycogen Storage Disease

Search Clinical Trials , NIH Clinical Center for Lysosomal Glycogen Storage Disease

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Genetic Tests for Lysosomal Glycogen Storage Disease

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Anatomical Context for Lysosomal Glycogen Storage Disease

MalaCards organs/tissues related to Lysosomal Glycogen Storage Disease:

⁴⁰

Skeletal Muscle

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Publications for Lysosomal Glycogen Storage Disease

Articles related to Lysosomal Glycogen Storage Disease:

(show all 37)

#	Title	Authors	PMID	Year
1	Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state. ⁶¹	Matsuoka T...Umeda Y	27896132	2016
2	Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten. ⁶¹	Raben N...Myerowitz R	22253254	2012
3	Infantile hypotonia with failure to thrive. ⁶¹	Nagiub M...Anne P	23569532	2012
4	Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. ⁶¹	Cottinet SL...Labarthe F	21161685	2011
5	Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans. ⁶¹	Sikora J...Hrebicek M	20349118	2010
6	Cardiovascular magnetic resonance findings in a case of Danon disease. ⁶¹	Piotrowska-Kownacka D...Krolicki L	19402899	2009
7	Danon disease: an unusual presentation of autism. ⁶¹	Burusnukul P...Boue DR	18555174	2008
8	Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. ⁶¹	Eskelinen EL	16973206	2006
9	Autophagic vacuolar myopathy. ⁶¹	Nishino I	17027858	2006
10	[Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom]. ⁶¹	Burghaus L...Haupt WF	16228159	2006
11	[Diagnosis and differential diagnosis of lysosomal glycogen storage disease]. ⁶¹	Fischer D...Schroder R	14551696	2003
12	Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. ⁶¹	Horvath J...Omran H	14598234	2003
13	Infantile autophagic vacuolar myopathy is distinct from Danon disease. ⁶¹	Yamamoto A...Nishino I	11552028	2001
14	Early-onset lysosomal glycogen storage disease with normal acid maltase. ⁶¹	Dayan RM...Renaud DL	11596653	2001
15	Disease model: LAMP-2 enlightens Danon disease. ⁶¹	Saftig P...von Figura K	11427988	2001
16	Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). ⁶¹	Nishino I...Hirano M	10972294	2000
17	[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. ⁶¹	Kawamura H...Tadokoro M	10885338	2000
18	[Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)]. ⁶¹	Ohno K	11032005	2000
19	Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. ⁶¹	Inose M...Osame M	10417791	1999
20	[Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase]. ⁶¹	Matsumoto S...Kira J	10548908	1999
21	Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. ⁶¹	Morisawa Y...Nonaka I	9849802	1998
22	Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts. ⁶¹	Yang HW...Van Hove JL	9505277	1998
23	[Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease)]. ⁶¹	Usuki F	9645081	1998
24	Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. ⁶¹	Verloes A...Van Hoof F	9382133	1997
25	Case report: lysosomal glycogen storage disease with normal acid maltase: an unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure. ⁶¹	Tse HF...Ma L	8853067	1996
26	[Lysosomal glycogen storage disease without acid maltase deficiency]. ⁶¹	Usuki F...Osame M	8577057	1995
27	[A 21-year-old man with distal dominant progressive muscle atrophy]. ⁶¹	Hattori Y...Mizuno Y	7786629	1995
28	Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. ⁶¹	Murakami N...Nonaka I	7539316	1995
29	Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency). ⁶¹	Usuki F...Osame M	7699392	1994
30	Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. ⁶¹	Muntoni F...Porcu M	7919971	1994
31	[A patient with lysosomal glycogen storage disease with normal acid maltase]. ⁶¹	Itoh M...Nonaka I	8398237	1993
32	Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. ⁶¹	Kashio N...Murata F	1795162	1991
33	Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase. ⁶¹	Ullrich K...von Figura K	2500669	1989
34	Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles. ⁶¹	Tachi N...Sugie H	2496694	1989
35	Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. ⁶¹	Byrne E...Pollard A	3087571	1986
36	Lysosomal glycogen storage disease without acid maltase deficiency. ⁶¹	Riggs JE...DiMauro S	6408499	1983
37	Lysosomal glycogen storage disease with normal acid maltase. ⁶¹	Danon MJ...Schliselfeld LH	6450334	1981

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Genes for Lysosomal Glycogen Storage Disease

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

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	LAMP2	Lysosomal Associated Membrane Protein 2	Protein Coding	7.86	GeneCards inferred via : Disorders (show sections)
2	GAA	Alpha Glucosidase	Protein Coding	7.47	GeneCards inferred via : Publications (show sections)
3	DPAGT1	Dolichyl-Phosphate N-Acetylglucosaminephosphotransferase 1	Protein Coding	7.12	GeneCards inferred via : Publications (show sections)
4	MB	Myoglobin	Protein Coding	7.12	GeneCards inferred via : Publications (show sections)
5	SLC17A5	Solute Carrier Family 17 Member 5	Protein Coding	7.12	GeneCards inferred via : Publications (show sections)

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Variations for Lysosomal Glycogen Storage Disease

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Expression for Lysosomal Glycogen Storage Disease

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

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Pathways for Lysosomal Glycogen Storage Disease

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

#	Super pathways	Score	Top Affiliating Genes
1	Synthesis of substrates in N-glycan biosythesis ⁶⁵ Show member pathways Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein ⁶⁵ CMP-N-acetylneuraminate biosynthesis I (eukaryotes) ¹ dolichol and dolichyl phosphate biosynthesis ¹ GDP-fucose biosynthesis ⁶⁵ GDP-L-fucose biosynthesis I (from GDP-D-mannose) ¹ GDP-L-fucose biosynthesis II (from L-fucose) ¹ Sialic acid metabolism ⁶⁵ Synthesis of Dolichyl-phosphate ⁶⁵ Synthesis of dolichyl-phosphate-glucose ⁶⁵	11.25	SLC17A5 DPAGT1
2	Lysosome ³⁶	10.91	SLC17A5 LAMP2 GAA

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GO Terms for Lysosomal Glycogen Storage Disease

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

#	Name	GO ID	Score	Top Affiliating Genes
1	lysosomal lumen	GO:0043202	9.32	LAMP2 GAA
2	ficolin-1-rich granule membrane	GO:0101003	9.26	LAMP2 GAA
3	azurophil granule membrane	GO:0035577	9.16	LAMP2 GAA
4	lysosome	GO:0005764	9.13	SLC17A5 LAMP2 GAA
5	lysosomal membrane	GO:0005765	8.8	SLC17A5 LAMP2 GAA

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

#	Name	GO ID	Score	Top Affiliating Genes
1	muscle cell cellular homeostasis	GO:0046716	8.62	LAMP2 GAA

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Sources for Lysosomal Glycogen Storage Disease

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