MCID: LYS028
MIFTS: 20

Lysosomal Glycogen Storage Disease

Categories: Metabolic diseases, Rare diseases

Aliases & Classifications for Lysosomal Glycogen Storage Disease

MalaCards integrated aliases for Lysosomal Glycogen Storage Disease:

Name: Lysosomal Glycogen Storage Disease 59

Classifications:

Orphanet: 59  
Inborn errors of metabolism


External Ids:

ICD10 via Orphanet 34 E74.0
Orphanet 59 ORPHA309337

Summaries for Lysosomal Glycogen Storage Disease

MalaCards based summary : Lysosomal Glycogen Storage Disease is related to danon disease and glycogen storage disease ii. An important gene associated with Lysosomal Glycogen Storage Disease is LAMP2 (Lysosomal Associated Membrane Protein 2), and among its related pathways/superpathways is Lysosome. Affiliated tissues include heart and skeletal muscle, and related phenotype is muscle.

Related Diseases for Lysosomal Glycogen Storage Disease

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



Diseases related to Lysosomal Glycogen Storage Disease

Symptoms & Phenotypes for Lysosomal Glycogen Storage Disease

MGI Mouse Phenotypes related to Lysosomal Glycogen Storage Disease:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CHKB GAA LAMP2 MB

Drugs & Therapeutics for Lysosomal Glycogen Storage Disease

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

Genetic Tests for Lysosomal Glycogen Storage Disease

Anatomical Context for Lysosomal Glycogen Storage Disease

MalaCards organs/tissues related to Lysosomal Glycogen Storage Disease:

41
Heart, Skeletal Muscle

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. 38
27896132 2016
2
Autophagy and mitochondria in Pompe disease: nothing is so new as what has long been forgotten. 38
22253254 2012
3
Infantile hypotonia with failure to thrive. 38
23569532 2012
4
Danon disease: intrafamilial phenotypic variability related to a novel LAMP-2 mutation. 38
21161685 2011
5
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans. 38
20349118 2010
6
Cardiovascular magnetic resonance findings in a case of Danon disease. 38
19402899 2009
7
Danon disease: an unusual presentation of autism. 38
18555174 2008
8
Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy. 38
16973206 2006
9
Autophagic vacuolar myopathy. 38
17027858 2006
10
[Glycogenesis Type II (M. Pompe). Selective failure of the respiratory musculature--a rare first symptom]. 38
16228159 2006
11
[Diagnosis and differential diagnosis of lysosomal glycogen storage disease]. 38
14551696 2003
12
Identification of a novel LAMP2 mutation responsible for X-chromosomal dominant Danon disease. 38
14598234 2003
13
Infantile autophagic vacuolar myopathy is distinct from Danon disease. 38
11552028 2001
14
Early-onset lysosomal glycogen storage disease with normal acid maltase. 38
11596653 2001
15
Disease model: LAMP-2 enlightens Danon disease. 38
11427988 2001
16
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). 38
10972294 2000
17
[Lysosomal glycogen storage disease with normal acid maltase (Danon) without apparent cardiomyopathy and mental retardation]. 38
10885338 2000
18
[Lysosomal glycogen storage disease without acid maltase deficiency(Danon disease)]. 38
11032005 2000
19
Caveolin-3 and sarcoglycans in the vacuolar myopathies and centronuclear myopathy. 38
10417791 1999
20
[Hepatic involvement in a case of lysosomal glycogen storage disease with normal acid maltase]. 38
10548908 1999
21
Lysosomal glycogen storage disease with normal acid maltase with early fatal outcome. 38
9849802 1998
22
Recombinant human acid alpha-glucosidase corrects acid alpha-glucosidase-deficient human fibroblasts, quail fibroblasts, and quail myoblasts. 38
9505277 1998
23
[Lysosomal glycogen storage disease without acid maltase deficiency (Danon's disease)]. 38
9645081 1998
24
Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form. 38
9382133 1997
25
Case report: lysosomal glycogen storage disease with normal acid maltase: an unusual form of hypertrophic cardiomyopathy with rapidly progressive heart failure. 38
8853067 1996
26
[Lysosomal glycogen storage disease without acid maltase deficiency]. 38
8577057 1995
27
[A 21-year-old man with distal dominant progressive muscle atrophy]. 38
7786629 1995
28
Sarcolemmal indentation in cardiomyopathy with mental retardation and vacuolar myopathy. 38
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). 38
7699392 1994
30
Familial cardiomyopathy, mental retardation and myopathy associated with desmin-type intermediate filaments. 38
7919971 1994
31
[A patient with lysosomal glycogen storage disease with normal acid maltase]. 38
8398237 1993
32
Cardiomyopathy, mental retardation, and autophagic vacuolar myopathy. Abnormal MRI findings in the head. 38
1795162 1991
33
Glycogen storage disease with normal acid maltase: skeletal and cardiac muscles. 38
2496694 1989
34
Lysosomal glycogen storage disease without deficiency of acid alpha-glucosidase. 38
2500669 1989
35
Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels. 38
3087571 1986
36
Lysosomal glycogen storage disease without acid maltase deficiency. 38
6408499 1983
37
Lysosomal glycogen storage disease with normal acid maltase. 38
6450334 1981

Variations for Lysosomal Glycogen Storage Disease

Expression for Lysosomal Glycogen Storage Disease

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

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 10.89 SLC17A5 LAMP2 GAA

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

Sources for Lysosomal Glycogen Storage Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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