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 structural anomalies of the cardio-circulatory system, cardiomegaly and emphysema. 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, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 43NINDS, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 60UMLS, 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
glycogen storage disease, type ii 8
acid alpha-glucosidase deficiency 19
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

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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

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

232300

Clinical synopsis from OMIM:

232300

Symptoms:

48 (show all 25)
  • 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
  • myopathy
  • absent/hypotonic/flaccid abdominal wall muscles
  • metabolic anomalies
  • 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
  • autosomal recessive inheritance

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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20GeneTests, 22GTR
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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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32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Ii:

32
Skeletal muscle, Heart, Liver, Lung, Tongue, 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
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II. (23360637)
2013
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
Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. (22940840)
2012
5
Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy. (23182645)
2012
6
Late onset glycogen storage disease type II: pitfalls in the diagnosis. (22179097)
2012
7
Late onset glycogen storage disease type II with reducing body-like inclusions. (20040332)
2010
8
High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease type II in the Japanese population. (19362502)
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
Adult onset glycogen storage disease type II (adult onset Pompe disease): report and magnetic resonance images of two cases. (19771425)
2009
11
Identification of eight novel mutations of the acid alpha-glucosidase gene causing the infantile or juvenile form of glycogen storage disease type II. (18458862)
2008
12
Therapeutic approaches in glycogen storage disease type II/Pompe Disease. (19019308)
2008
13
Molecular genetics of late onset glycogen storage disease II in Italy. (17915575)
2007
14
Glycogen storage disease type II: clinical overview. (17915568)
2007
15
Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II. (17095274)
2007
16
Pompe disease (glycogen storage disease type II) in Argentineans: clinical manifestations and identification of 9 novel mutations. (17056254)
2007
17
Evidence of cardiomyocyte necrosis in glycogen storage disease type II. (17270099)
2007
18
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II. (17723315)
2007
19
A new diagnostic assay for glycogen storage disease type II in mixed leukocytes. (16359900)
2006
20
The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II. (16601900)
2006
21
Enhanced efficacy of an AAV vector encoding chimeric, highly secreted acid alpha-glucosidase in glycogen storage disease type II. (16987711)
2006
22
Correction of glycogen storage disease type II by an adeno-associated virus vector containing a muscle-specific promoter. (15922959)
2005
23
Efficacy of an adeno-associated virus 8-pseudotyped vector in glycogen storage disease type II. (15585406)
2005
24
Sustained correction of glycogen storage disease type II using adeno-associated virus serotype 1 vectors. (15920463)
2005
25
Infantile-onset glycogen storage disease type II (Pompe disease): report of a case with genetic diagnosis and pathological findings. (15366815)
2004
26
Glycogen storage disease type II diagnosed in a 74-year-old woman. (15161487)
2004
27
Detection of a homozygous D645E mutation of the acid alpha-glucosidase gene and glycogen deposition in tissues in a second-trimester fetus with infantile glycogen storage disease type II. (15057961)
2004
28
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. (14695532)
2004
29
Juvenile-onset glycogen storage disease type II with novel mutations in acid alpha-glucosidase gene. (12601120)
2003
30
Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II. (12633905)
2003
31
Long-term correction of glycogen storage disease type II with a hybrid Ad-AAV vector. (12597907)
2003
32
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II. (12923862)
2003
33
Aberrant splicing at catalytic site as cause of infantile onset glycogen storage disease type II (GSDII): molecular identification of a novel IVS9 (+2GT-->GC) in combination with rare IVS10 (+1GT-->CT). (11343339)
2001
34
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. (11286229)
2001
35
Correction of glycogen storage disease type II by enzyme replacement with a recombinant human acid maltase produced by over-expression in a CHO-DHFR(neg) cell line. (11027569)
2000
36
Novel mutations in African American patients with glycogen storage disease Type II. (10189220)
1999
37
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
38
Pathological features of glycogen storage disease type II highlighted in the knockout mouse model. (10547605)
1999
39
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients. (10737124)
1998
40
The identification of five novel mutations in the lysosomal acid alpha-(1,4) glucosidase gene from patients with glycogen storage disease type II. (10206684)
1998
41
Glycogen storage disease type II: identification of a dinucleotide deletion and a common missense mutation in the lysosomal alpha- glucosidase gene. (9660056)
1998
42
Glycogen storage disease type II: genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry. (9521422)
1998
43
Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing. (9425285)
1997
44
Glycogen-storage disease type II (acid maltase deficiency): identification of a novel small deletion (delCC482+483) in French patients. (9196050)
1997
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
Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. (7945303)
1994
48
Synthesis and in situ localization of lysosomal alpha-glucosidase in muscle of an unusual variant of glycogen storage disease type II. (8256296)
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
Echocardiographic features in the cardiac type of glycogen storage disease II. (6572589)
1983

Genetic Variations for Glycogen Storage Disease Ii

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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
5starch449.8MGAM, SI
6fructose44 1110.7SI, MGAM
7glucose 6-phosphate44 2410.7MGAM, GAA
8isomaltose44 2410.6SI, MGAM, GAA
9acarbose44 1110.6GAA, MGAM, SI
10spermine44 28 11 2412.6MGAM, SI
11maltose44 1110.6SI, MGAM, GAA
12carbohydrates449.5SI, MGAM, GAA
13lactose44 1110.5SI, MGAM
14polysaccharide449.4SI, MGAM, GAA
15melibiose44 2410.4MGAM, GANC, GAA
161-deoxymannojirimycin hydrochloride599.3GANAB, GANC, GAA
17ogt 2115599.3GANAB, GANC, GAA
18kifunensine59 44 1111.3GAA, GANC, GANAB
19acetic acid44 28 11 2412.3SI, MGAM
20sucrose44 11 2410.9SI, MGAM, GANC, GAA
21miglitol44 59 1110.9GAA, GANC, GANAB, MGAM
221-deoxynojirimycin44 59 1110.5SI, MGAM, GANAB, GANC, 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:0324508.7GAA, 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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Ii

About this section
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