AMD
MCID: GLY008
MIFTS: 57

Glycogen Storage Disease Ii (AMD) malady

Neuronal, Metabolic, Cardiovascular categories

Summaries for Glycogen Storage Disease Ii

Sources:
8Disease Ontology, 43NIH Rare Diseases, 44NINDS, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 Glycogen storage disease type 2, also known as pompe disease and acid maltase deficiency disease, is an inherited metabolic disorder caused by an inborn lack of the enzyme alpha-1,4 glucosidase (lysosomal glucosidase; acid maltase), which is necessary to break down glycogen, a substance that is a source of energy for the body. this enzyme deficiency causes excess amounts of glycogen to accumulate in the lysosomes, which are structures within cells that break down waste products within the cell. this accumulation of glycogen in certain tissues, especially muscles, impairs their ability to function normally. glycogen storage disease type 2 is a single disease continuum with variable rates of disease progression. in 2006, the u.s. food and drug administration (fda) approved the enzyme replacement therapy myozyme as a treatment for all patients with glycogen storage disease type 2.  last updated: 12/24/2008

MalaCards: Glycogen Storage Disease Ii, also known as glycogen storage disease type ii, is related to danon disease and glycogen storage disease iii, and has symptoms including autosomal recessive inheritance, eeg anomalies and seizures/epilepsy/absences/spasms/status epilepticus. An important gene associated with Glycogen Storage Disease Ii is GAA (glucosidase, alpha; acid), and among its related pathways are Carbohydrate digestion and absorption and Digestion of dietary carbohydrate. The compounds maltotetraose and salacinol have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle.

Disease Ontology:8 A glycogen storage disease that has material basis in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome.

NINDS:44 Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles.

Genetics Home Reference:21 Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.

Wikipedia:64 Glycogen storage disease type II (also called Pompe disease or acid maltase deficiency) is an autosomal... more...

Description from OMIM:47 232300

GeneReviews summary for gsd2

Aliases & Classifications for Glycogen Storage Disease Ii

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 19GeneReviews, 21Genetics Home Reference, 44NINDS, 61UMLS, 43NIH Rare Diseases, 20GeneTests, 22GTR, 49Orphanet, 45Novoseek, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Metabolic, Cardiovascular


Characteristics (Orphanet epidemiological data):

49
glycogen storage disease type 2:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

glycogen storage disease ii 8 9 47 10
glycogen storage disease type ii 8 19 21 61
glycogen storage disease type 2 43 20 22 49
acid maltase deficiency 8 19 21 44
pompe disease 21 44 45 49
alpha-1,4-glucosidase deficiency 43 21
acid maltase deficiency disease 43 21
deficiency of alpha-glucosidase 43 21
glycogenosis type ii 19 21
pompe's disease 8 21
gaa deficiency 19 21
gsd ii 19 21
glycogen storage disease due to acid maltase deficiency 49
generalized glycogen storage disease of infants 61
glycogenosis due to acid maltase deficiency 49
lysosomal alpha-1,4-glucosidase deficiency 8
cardiac form of generalized glycogenosis 61
alpha-1,4-glucosidase acid deficiency 49
gsd due to acid maltase deficiency 49
acid alpha-glucosidase deficiency 19
glycogen storage disease, type ii 8
cardiomegalia glycogenica diffusa 43
deficiency of glucoamylase 8
generalized glycogenosis 8
glycogen storage disease 61
deficiency of maltase 8
glycogenosis, type 2 8
glycogenosis type 2 49
aglucosidase alfa 43
gsd type 2 49
gsd2 21
amd 21


External Ids:

Disease Ontology8 DOID:2752
MeSH35 D006009
NCIt40 C84734
OMIM47 232300
MESH via Orphanet36 D006009
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet58 124454007, 124462004, 237967002 237968007, more
UMLS via Orphanet62 C0017921

Related Diseases for Glycogen Storage Disease Ii

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Glycogen Storage Disease Ii family:

glycogen storage disease viii glycogen storage disease iv
glycogen storage disease vi glycogen storage disease v
glycogen storage disease i glycogen storage disease iii
glycogen storage disease ix glycogen storage disease xv
glycogen storage disease vii glycogen storage disease
glycogen storage disease type 12 glycogen storage disease type 13
glycogen storage disease type 1a glycogen storage disease type 1b
glycogen storage disease type 0 glycogen storage disease type 14
glycogen storage disease iiia glycogen storage disease iiib
glycogen storage disease ic glycogen storage disease ixc
glycogen storage disease xii

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1danon disease30.3GAA
2glycogen storage disease iii11.0
3glycogen storage disease type 1a10.9
4adenoma10.9
5glycogen storage disease iiia10.8
6glycogen storage disease v10.8
7glycogen storage disease type 010.7
8glycogen storage disease vii10.7
9hepatocellular adenoma10.7
10phosphorylase kinase deficiency10.7
11glycogen storage disease type 1310.7
12glycogen storage disease xv10.7
13fanconi bickel syndrome10.7
14phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.7
15hypoglycemia10.6
16glycogen storage disease type 0, muscle10.6
17lip disease10.6
18glycogen storage disease vi10.6
19glycogen storage disease viii10.6
20glycogen storage disease type 1210.6
21glycogen storage disease, type ixa110.6
22phosphoglycerate mutase deficiency10.6
23glycogen storage disease iv10.5
24glycogen storage disease type 1b10.5
25lethal congenital glycogen storage disease of the heart10.5
26age related macular degeneration10.5
27glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
28glycogen storage disease due to acid maltase deficiency, infantile onset10.5
29gout10.5
30crohn's disease10.5
31hypertrophic cardiomyopathy10.5
32atherosclerosis10.5
33nephrolithiasis10.4
34brain disease10.4
35juvenile hereditary hemochromatosis10.4
36glycogen storage disease xii10.4
37nutrition disease10.4
38glycogen storage disease i10.4
39fanconi syndrome10.4
40dent's disease10.4
41glycogen storage disease type 1410.4
42glycogen storage disease iiib10.4
43glycogen storage disease ic10.4
44glycogen storage disease ixc10.4
45protein c deficiency10.4
46sleep disorder10.4
47rigid spine syndrome10.4
48n syndrome10.3
49glycogen storage disease due to acid maltase deficiency, adult onset10.3
50chronic diarrhea due to glucoamylase deficiency10.3

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



Diseases related to glycogen storage disease ii

Clinical Features for Glycogen Storage Disease Ii

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

232300

Clinical synopsis from OMIM:

232300

Symptoms:

49 (show all 25)
  • autosomal recessive inheritance
  • eeg anomalies
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • abnormal gait
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • hypotonia
  • muscle weakness/flaccidity
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • hepatomegaly/liver enlargement (excluding storage disease)
  • insulin-independent/type 2 diabetes
  • repeat respiratory infections
  • metabolic anomalies
  • absent/hypotonic/flaccid abdominal wall muscles
  • myopathy
  • structural anomalies of the cardio-circulatory system
  • cardiomegaly
  • emphysema
  • cardiomyopathy/hypertrophic/dilated
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block

Drugs & Therapeutics for Glycogen Storage Disease Ii

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Glycogen Storage Disease Ii

Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Ii

Search NIH Clinical Center for Glycogen Storage Disease Ii

Search CenterWatch for Glycogen Storage Disease Ii

Genetic Tests for Glycogen Storage Disease Ii

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Glycogen Storage Disease Ii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ii (pompe Disease)20 GAA
2 Glycogen Storage Disease, Type Ii22

Anatomical Context for Glycogen Storage Disease Ii

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Glycogen Storage Disease Ii:

33
Heart, Skeletal muscle

Animal Models for Glycogen Storage Disease Ii or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Glycogen Storage Disease Ii

Sources:
51PubMed
See all sources

Articles related to Glycogen Storage Disease Ii:

(show all 20)
idTitleAuthorsYear
1
Heart Failure Due to Severe Hypertrophic Cardiomyopathy Reversed by Low Calorie, High Protein Dietary Adjustments in a Glycogen Storage Disease Type IIIa Patient. (23430911)
2012
2
Characterization of a canine model of glycogen storage disease type IIIa. (22736456)
2012
3
Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa. (20158661)
2010
4
Reversal of glycogen storage disease type IIIa-related cardiomyopathy with modification of diet. (19322675)
2009
5
Egyptian glycogen storage disease type III - identification of six novel AGL mutations, including a large 1.5 kb deletion and a missense mutation p.L620P with subtype IIId. (19754354)
2009
6
Diagnosis of glycogen storage disease type IIIA by detecting glycogen debranching enzyme activity, glycogen content and structure in muscle]. (19951495)
2009
7
An adult case of glycogen storage disease type IIIa. (18617770)
2008
8
Glycogen storage disease type IIIa presenting as non-ketotic hypoglycemia: use of a newly approved commercially available mutation analysis to non-invasively confirm the diagnosis. (18717245)
2008
9
Glycogen storage disease type IIIa in curly-coated retrievers. (17338148)
2007
10
Three congenital metabolic diseases in the Faeroe Islands. Incidence, clinical and molecular genetic characteristics of Faeroese children with glycogen storage disease type IIIA, carnitine transporter deficiency and holocarboxylase synthetase deficiency]. (16494802)
2006
11
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa. (16189622)
2005
12
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area. (11977176)
2002
13
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands. (11378828)
2001
14
Novel exon 11 skipping mutation in a patient with glycogen storage disease type IIId. (11757581)
2001
15
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan. (10982190)
2000
16
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient. (10571954)
1999
17
A novel point mutation in an acceptor splice site of intron 32 (IVS32 A-12-->G) but no exon 3 mutations in the glycogen debranching enzyme gene in a homozygous patient with glycogen storage disease type IIIb. (9490286)
1998
18
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient. (9584265)
1998
19
A nonsense mutation due to a single base insertion in the 3'-coding region of glycogen debranching enzyme gene associated with a severe phenotype in a patient with glycogen storage disease type IIIa. (8990006)
1997
20
A single-base deletion in the 3'-coding region of glycogen-debranching enzyme is prevalent in glycogen storage disease type IIIA in a population of North African Jewish patients. (9412782)
1997

Genetic Variations for Glycogen Storage Disease Ii

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Glycogen Storage Disease Ii:

63 (show all 130)
id Symbol AA change Variation SNP ID
1GAAp.Leu299ArgVAR_004288
2GAAp.Met318ThrVAR_004289
3GAAp.Trp402ArgVAR_004290
4GAAp.Gly478ArgVAR_004291
5GAAp.Trp481ArgVAR_004292
6GAAp.Met519ThrVAR_004293
7GAAp.Met519ValVAR_004294
8GAAp.Glu521LysVAR_004295
9GAAp.Ser529ValVAR_004296
10GAAp.Pro545LeuVAR_004297
11GAAp.Ser566ProVAR_004298
12GAAp.Gly643ArgVAR_004301rs28937909
13GAAp.Asp645GluVAR_004302rs28940868
14GAAp.Asp645HisVAR_004303
15GAAp.Asp645AsnVAR_004304
16GAAp.Cys647TrpVAR_004305
17GAAp.Gly648SerVAR_004306
18GAAp.Arg672GlnVAR_004307
19GAAp.Arg672TrpVAR_004308
20GAAp.Arg725TrpVAR_004310rs28939100
21GAAp.Pro768ArgVAR_004312
22GAAp.Val949AspVAR_004318
23GAAp.Arg600HisVAR_008689
24GAAp.Gly615ArgVAR_008690
25GAAp.Cys103GlyVAR_018078
26GAAp.Gly219ArgVAR_018079
27GAAp.Pro285ArgVAR_018080
28GAAp.Tyr292CysVAR_018081
29GAAp.Gly293ArgVAR_018082
30GAAp.His308ProVAR_018083
31GAAp.Gly309ArgVAR_018084
32GAAp.Leu312ArgVAR_018085
33GAAp.Leu355ProVAR_018086
34GAAp.Cys374ArgVAR_018087
35GAAp.Leu405ProVAR_018088
36GAAp.Tyr455PheVAR_018089
37GAAp.Gly549ArgVAR_018091
38GAAp.Leu552ProVAR_018092
39GAAp.Tyr575SerVAR_018093
40GAAp.Glu579LysVAR_018094
41GAAp.Arg600CysVAR_018095
42GAAp.Gly607AspVAR_018096
43GAAp.Ala880AspVAR_018097
44GAAp.Leu208ProVAR_029025
45GAAp.Arg224TrpVAR_029026
46GAAp.Ala237ValVAR_029027
47GAAp.Glu262LysVAR_029028rs201896815
48GAAp.Pro324LeuVAR_029029
49GAAp.Trp330GlyVAR_029030
50GAAp.Pro361LeuVAR_029031
51GAAp.Gly377ArgVAR_029032
52GAAp.Asp404AsnVAR_029033
53GAAp.Met408ValVAR_029034
54GAAp.Arg437CysVAR_029035
55GAAp.Ala445ProVAR_029036
56GAAp.Asp489AsnVAR_029037
57GAAp.His612GlnVAR_029038
58GAAp.Leu901GlnVAR_029039
59GAAp.Pro457LeuVAR_029040
60GAAp.Tyr191CysVAR_046467
61GAAp.His308LeuVAR_046468
62GAAp.Arg375LeuVAR_046469
63GAAp.Gln401ArgVAR_046470
64GAAp.Pro522AlaVAR_046471
65GAAp.Arg585MetVAR_046472
66GAAp.Ser599TyrVAR_046473
67GAAp.Ser619ArgVAR_046475
68GAAp.Gly638TrpVAR_046476
69GAAp.Arg660HisVAR_046477
70GAAp.Arg672ThrVAR_046478
71GAAp.Arg702CysVAR_046479
72GAAp.Ser46ProVAR_068564
73GAAp.Cys103ArgVAR_068567
74GAAp.Cys108GlyVAR_068568
75GAAp.Cys127PheVAR_068569
76GAAp.Arg190HisVAR_068570
77GAAp.Pro217LeuVAR_068571
78GAAp.Arg224ProVAR_068574
79GAAp.Arg224GlnVAR_068575
80GAAp.Thr234LysVAR_068576
81GAAp.Thr234ArgVAR_068577
82GAAp.Ser251LeuVAR_068578
83GAAp.Ser254LeuVAR_068579
84GAAp.Pro266SerVAR_068580
85GAAp.Pro285SerVAR_068582
86GAAp.Leu291PheVAR_068584
87GAAp.Leu291ProVAR_068585
88GAAp.Asn316IleVAR_068587
89GAAp.Met318LysVAR_068588
90GAAp.Gly335GluVAR_068589
91GAAp.Gly335ArgVAR_068590
92GAAp.Pro347ArgVAR_068591
93GAAp.Pro397LeuVAR_068594
94GAAp.Asp419ValVAR_068595
95GAAp.Pro457HisVAR_068596
96GAAp.Pro482ArgVAR_068598
97GAAp.Gly483ValVAR_068599
98GAAp.Ala486ProVAR_068600
99GAAp.Glu521GlnVAR_068601
100GAAp.Pro522SerVAR_068602
101GAAp.Ser523TyrVAR_068603
102GAAp.Phe525TyrVAR_068604
103GAAp.Ile557PheVAR_068605
104GAAp.Cys558SerVAR_068606
105GAAp.Asn570LysVAR_068607
106GAAp.His572GlnVAR_068608
107GAAp.Tyr575CysVAR_068609
108GAAp.Gly576ArgVAR_068610
109GAAp.Arg594HisVAR_068612
110GAAp.Arg594ProVAR_068613
111GAAp.Ser601LeuVAR_068614
112GAAp.Thr602AlaVAR_068615
113GAAp.Ala610ValVAR_068616
114GAAp.His612TyrVAR_068618
115GAAp.Thr614LysVAR_068619
116GAAp.Ser627ProVAR_068620
117GAAp.Asn635LysVAR_068622
118GAAp.Gly638ValVAR_068623
119GAAp.Gly648AspVAR_068624
120GAAp.Arg702LeuVAR_068626
121GAAp.Thr737AsnVAR_068629
122GAAp.Gln743LysVAR_068630
123GAAp.Trp746GlyVAR_068631
124GAAp.Trp746SerVAR_068632
125GAAp.Arg819ProVAR_068633
126GAAp.Val916PheVAR_068634
127GAAp.Leu935ProVAR_068635
128GAAp.His568LeuVAR_070018
129GAAp.Tyr766CysVAR_070019
130GAAp.Pro913ArgVAR_070020

Expression for genes affiliated with Glycogen Storage Disease Ii

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Ii

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

Pathways for genes affiliated with Glycogen Storage Disease Ii

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

Pathways related to Glycogen Storage Disease Ii according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6SI, MGAM
29.6MGAM, SI
3
Hide members
9.0MGAM, GANC, GAA
4
Galactose metabolism
Hide members
8.7SI, MGAM, GANC, GAA

Compounds for genes affiliated with Glycogen Storage Disease Ii

Sources:
45Novoseek, 29IUPHAR, 60Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

Compounds related to Glycogen Storage Disease Ii according to GeneCards/GeneDecks:

(show all 22)
idCompoundScoreTop Affiliating Genes
1maltotetraose459.9MGAM, GAA
2salacinol459.9MGAM, SI
3phlorizin45 29 6011.8MGAM, SI
4hydrazine459.8SI, MGAM
5starch459.8MGAM, SI
6fructose45 1110.7SI, MGAM
7glucose 6-phosphate45 2410.7MGAM, GAA
8isomaltose45 2410.6SI, MGAM, GAA
9acarbose45 1110.6GAA, MGAM, SI
10spermine45 29 11 2412.6MGAM, SI
11maltose45 1110.6SI, MGAM, GAA
12carbohydrates459.5SI, MGAM, GAA
13lactose45 1110.5SI, MGAM
14polysaccharide459.4SI, MGAM, GAA
15melibiose45 2410.4MGAM, GANC, GAA
161-deoxymannojirimycin hydrochloride609.3GANAB, GANC, GAA
17ogt 2115609.3GANAB, GANC, GAA
18kifunensine60 45 1111.3GAA, GANC, GANAB
19acetic acid45 29 11 2412.3SI, MGAM
20sucrose45 11 2410.9SI, MGAM, GANC, GAA
21miglitol45 60 1110.9GAA, GANC, GANAB, MGAM
221-deoxynojirimycin45 60 1110.5SI, MGAM, GANAB, GANC, GAA

GO Terms for genes affiliated with Glycogen Storage Disease Ii

Sources:
16Gene Ontology
See all sources

Biological processes related to Glycogen Storage Disease Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1polysaccharide digestionGO:0442459.3SI, MGAM
2carbohydrate metabolic processGO:0059759.0SI, MGAM, GANC

Molecular functions related to Glycogen Storage Disease Ii according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1maltose alpha-glucosidase activityGO:0324508.7GAA, GANC, MGAM
2alpha-glucosidase activityGO:0045588.6SI, MGAM, GANC, GAA
3carbohydrate bindingGO:0302468.2SI, MGAM, GANAB, GANC, GAA

Products for genes affiliated with Glycogen Storage Disease Ii

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Ii

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet