AMD
MCID: GLY008
MIFTS: 73

Glycogen Storage Disease Ii (AMD) malady

Neuronal diseases, Metabolic diseases, Cardiovascular diseases categories

Summaries for Glycogen Storage Disease Ii

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Sources:
8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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 glycogen storage disease and danon disease, and has symptoms including respiratory distress/dyspnea/respiratory failure/lung volume reduction, cardiac rhythm disorder/arrhythmia and cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block. 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 skeletal muscle, heart and liver.

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.

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.

NINDS:43 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.

Wikipedia:63 Glycogen storage disease type II (also called Pompe disease /ˈpɒmpə/ or acid maltase deficiency) is... more...

Description from OMIM:46 232300

GeneReviews summary for gsd2

Aliases & Classifications for Glycogen Storage Disease Ii

About this section
Sources:
8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 19GeneReviews, 21Genetics Home Reference, 43NINDS, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 44Novoseek, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46 10
glycogen storage disease type ii 8 19 21 60
glycogen storage disease type 2 42 20 22 48
acid maltase deficiency 8 19 21 43
pompe disease 21 43 44 48
alpha-1,4-glucosidase deficiency 42 21
acid maltase deficiency disease 42 21
deficiency of alpha-glucosidase 42 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 48
generalized glycogen storage disease of infants 60
glycogenosis due to acid maltase deficiency 48
lysosomal alpha-1,4-glucosidase deficiency 8
cardiac form of generalized glycogenosis 60
alpha-1,4-glucosidase acid deficiency 48
gsd due to acid maltase deficiency 48
acid alpha-glucosidase deficiency 19
glycogen storage disease, type ii 8
cardiomegalia glycogenica diffusa 42
deficiency of glucoamylase 8
generalized glycogenosis 8
glycogen storage disease 60
deficiency of maltase 8
glycogenosis, type 2 8
glycogenosis type 2 48
aglucosidase alfa 42
gsd type 2 48
gsd2 21
amd 21


External Ids:

Disease Ontology8 DOID:2752
MeSH34 D006009
NCIt39 C84734
OMIM46 232300
MESH via Orphanet35 D006009
ICD10 via Orphanet26 E74.0
SNOMED-CT via Orphanet57 124454007, 124462004, 237967002 274864009, more
UMLS via Orphanet61 C0017921

Related Diseases for Glycogen Storage Disease Ii

About this section
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 162)
idRelated DiseaseScoreTop Affiliating Genes
1glycogen storage disease30.6GAA
2danon disease30.3GAA
3glycogen storage disease iv11.1
4glycogen storage disease iii11.1
5glycogen storage disease vi10.9
6glycogen storage disease type 1a10.8
7glycogen storage disease type 010.8
8adenoma10.8
9lysosomal storage disease10.8
10age related macular degeneration10.7
11glycogen storage disease vii10.7
12glycogen storage disease type 1310.7
13phosphorylase kinase deficiency10.7
14glycogen storage disease xv10.6
15hepatocellular carcinoma10.6
16neutropenia10.6
17fanconi bickel syndrome10.6
18glycogen storage disease ix10.6
19hypoglycemia10.6
20glycogen storage disease type 1210.6
21glycogen storage disease type 0, muscle10.6
22myopathy10.6
23glycogen storage disease, type ixa110.6
24muscle glycogenosis10.6
25glycogen storage disease due to phosphorylase kinase deficiency10.6
26glycogen storage disease viii10.6
27phosphoglycerate mutase deficiency10.6
28glycogen storage disease iiia10.6
29phosphorylase kinase deficiency of liver and muscle, autosomal recessive10.5
30glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
31glycogen storage disease due to acid maltase deficiency, infantile onset10.5
32chromosomal disease10.5
33kidney disease10.5
34neuromuscular disease10.5
35glycogen storage disease type 1b10.5
36lethal congenital glycogen storage disease of the heart10.5
37hypertrophic cardiomyopathy10.5
38atherosclerosis10.5
39lipid storage disease10.5
40juvenile hereditary hemochromatosis10.5
41glycogen storage disease xii10.5
42glycogen storage disease i10.4
43nephrolithiasis10.4
44brain disease10.4
45hypertension10.4
46inflammatory bowel disease10.4
47respiratory failure10.3
48sleep disorder10.3
49gout10.3
50fanconi syndrome10.3

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

232300

Clinical synopsis from OMIM:

232300

Symptoms:

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

Drugs & Therapeutics for Glycogen Storage Disease Ii

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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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

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Sources:
32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Ii:

32
Skeletal muscle, Heart, Liver, Tongue, Lung, Testes

Animal Models for Glycogen Storage Disease Ii or affiliated genes

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Publications for Glycogen Storage Disease Ii

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Sources:
50PubMed
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Articles related to Glycogen Storage Disease Ii:

(show top 50)    (show all 88)
idTitleAuthorsYear
1
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature. (24158270)
2014
2
Effects of enzyme replacement therapy on five patients with advanced late-onset glycogen storage disease type II: a 2-year follow-up study. (21984055)
2012
3
The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). (22595755)
2012
4
Late onset glycogen storage disease type II: pitfalls in the diagnosis. (22179097)
2012
5
Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients' phenotypes. (21179066)
2011
6
Novel mutations in the gene encoding acid I+-1,4-glucosidase in a patient with late-onset glycogen storage disease type II (Pompe disease) with impaired intelligence. (22185990)
2011
7
Glycogen storage disease type II (Pompe disease)--influence of enzyme replacement therapy in adults. (19138339)
2009
8
Progress in Enzyme Replacement Therapy in Glycogen Storage Disease Type II. (21179524)
2009
9
Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. (19609281)
2009
10
Enzyme replacement therapy in severe adult-onset glycogen storage disease type II. (18704279)
2008
11
Molecular genetics of late onset glycogen storage disease II in Italy. (17915575)
2007
12
Glycogen storage disease type II: clinical overview. (17915568)
2007
13
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. (17056254)
2007
14
Glycogen storage disease types I and II: treatment updates. (17308886)
2007
15
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II. (16917947)
2006
16
Pompe disease (glycogen storage disease type II): clinical features and enzyme replacement therapy. (16898258)
2006
17
Two new missense mutations of GAA in late onset glycogen storage disease type II. (17092519)
2006
18
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. (16987711)
2006
19
Two clinical forms of glycogen-storage disease type II in two generations of the same family. (16433701)
2006
20
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. (15922959)
2005
21
Impact of humoral immune response on distribution and efficacy of recombinant adeno-associated virus-derived acid alpha-glucosidase in a model of glycogen storage disease type II. (15703490)
2005
22
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. (16005263)
2005
23
Glycogen storage disease type II diagnosed in a 74-year-old woman. (15161487)
2004
24
Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper. (15313146)
2004
25
Anaesthetic management of infants with glycogen storage disease type II: a physiological approach. (15153218)
2004
26
Packaging of an AAV vector encoding human acid alpha-glucosidase for gene therapy in glycogen storage disease type II with a modified hybrid adenovirus-AAV vector. (12727109)
2003
27
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. (12923862)
2003
28
Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease). (11738358)
2002
29
L-alanine supplementation in late infantile glycogen storage disease type II. (12213618)
2002
30
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II. (11854868)
2002
31
Long-term efficacy after [E1-, polymerase-] adenovirus-mediated transfer of human acid-alpha-glucosidase gene into glycogen storage disease type II knockout mice. (11387060)
2001
32
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations. (11494962)
2001
33
Towards a molecular therapy for glycogen storage disease type II (Pompe disease). (10840383)
2000
34
Glycogen storage disease type II: birth prevalence agrees with predicted genotype frequency. (15181339)
1999
35
Human acid alpha-glucosidase from rabbit milk has therapeutic effect in mice with glycogen storage disease type II. (10545593)
1999
36
Systemic correction of the muscle disorder glycogen storage disease type II after hepatic targeting of a modified adenovirus vector encoding human acid-alpha-glucosidase. (10430861)
1999
37
Increased occurrence of cleft lip in glycogen storage disease type II (GSDII): exclusion of a contiguous gene syndrome in two patients by presence of intragenic mutations including a novel nonsense mutation Gln58Stop. (10377006)
1999
38
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype. (9535769)
1998
39
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. (10737124)
1998
40
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha- glucosidase gene. (9660056)
1998
41
Adenovirus-mediated transfer of the acid alpha-glucosidase gene into fibroblasts, myoblasts and myotubes from patients with glycogen storage disease type II leads to high level expression of enzyme and corrects glycogen accumulation. (9736771)
1998
42
Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II. (8884087)
1996
43
Glycogen storage disease type II: frequency of three common mutant alleles and their associated clinical phenotypes studied in 121 patients. (8558570)
1995
44
The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (Pro545Leu) on the expression of lysosomal alpha- glucosidase in patients with glycogen storage disease type II. (7881422)
1994
45
Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1 (-13T-->G) mutation in a majority of patients and a novel IVS10 (+1GT-->CT) mutation. (7881425)
1994
46
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease). (7866409)
1994
47
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII). (7981676)
1994
48
Glycogen Storage Disease Type II (Pompe Disease) (20301438)
1993
49
The conservative substitution Asp-645-->Glu in lysosomal alpha- glucosidase affects transport and phosphorylation of the enzyme in an adult patient with glycogen-storage disease type II. (8094613)
1993
50
Two mutations affecting the transport and maturation of lysosomal alpha-glucosidase in an adult case of glycogen storage disease type II. (8401535)
1993

Genetic Variations for Glycogen Storage Disease Ii

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Glycogen Storage Disease Ii:

62 (show all 130)
id Symbol AA change Variation ID 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

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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

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Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database
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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

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Sources:
44Novoseek, 28IUPHAR, 59Tocris Bioscience, 11DrugBank, 24HMDB
See all sources

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

(show all 22)
idCompoundScoreTop Affiliating Genes
1maltotetraose449.9MGAM, GAA
2salacinol449.9MGAM, SI
3phlorizin44 28 5911.8MGAM, SI
4hydrazine449.8SI, MGAM
5starch449.8SI, MGAM
6fructose44 1110.7MGAM, SI
7glucose 6-phosphate44 2410.7MGAM, GAA
8isomaltose44 2410.6GAA, MGAM, SI
9acarbose44 1110.6SI, GAA, MGAM
10spermine44 28 11 2412.6MGAM, SI
11maltose44 1110.6SI, MGAM, GAA
12carbohydrates449.5MGAM, SI, GAA
13lactose44 1110.5MGAM, SI
14polysaccharide449.4MGAM, GAA, SI
15melibiose44 2410.4GAA, GANC, MGAM
161-deoxymannojirimycin hydrochloride599.3GAA, GANC, GANAB
17ogt 2115599.3GANC, GANAB, GAA
18kifunensine59 44 1111.3GAA, GANC, GANAB
19acetic acid44 28 11 2412.3SI, MGAM
20sucrose44 11 2410.9MGAM, SI, GANC, GAA
21miglitol44 59 1110.9MGAM, GANAB, GANC, GAA
221-deoxynojirimycin44 59 1110.5GANC, SI, MGAM, GANAB, GAA

GO Terms for genes affiliated with Glycogen Storage Disease Ii

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Sources:
16Gene Ontology
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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:0324508.7GANC, MGAM, GAA
2alpha-glucosidase activityGO:0045588.6SI, MGAM, GANC, GAA
3carbohydrate bindingGO:0302468.2GANC, GAA, MGAM, SI, GANAB

Products for genes affiliated with Glycogen Storage Disease Ii

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Ii

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet