AMD
MCID: GLY008
MIFTS: 62

Glycogen Storage Disease Ii (AMD) malady

Genetic diseases, Rare diseases, Neuronal diseases, Metabolic diseases, Cardiovascular diseases, Liver diseases, Blood diseases, Muscle diseases, Nephrological diseases categories
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Summaries for Glycogen Storage Disease Ii

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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 based summary: Glycogen Storage Disease Ii, also known as pompe disease, is related to age related macular degeneration and myopathy, and has symptoms including absent/hypotonic/flaccid abdominal wall muscles, feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia and emphysema. An important gene associated with Glycogen Storage Disease Ii is GAA (glucosidase, alpha; acid), and among its related pathways are Galactose metabolism and Glucuronidation. The compounds melibiose and D-Maltose 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:65 Glycogen storage disease type II (also called Pompe disease /?p?mp?/ or acid maltase deficiency) is an... more...

Description from OMIM:46 232300

GeneReviews summary for gsd2

Aliases & Classifications for Glycogen Storage Disease Ii

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Sources:
62UMLS, 8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 19GeneReviews, 21Genetics Home Reference, 43NINDS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 48Orphanet, 44Novoseek, 34MeSH, 57SNOMED-CT, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Glycogen Storage Disease Ii, Aliases & Descriptions:

Name: Glycogen Storage Disease Ii 8 9 46 10
Pompe Disease 42 21 43 44 48
Glycogen Storage Disease Type Ii 8 19 21 62
Glycogen Storage Disease Type 2 42 20 22 48
Acid Maltase Deficiency 8 19 21 43
Deficiency of Alpha-Glucosidase 42 21 62
Gsd Ii 19 42 21
Lysosomal Alpha-1,4-Glucosidase Deficiency 8 62
Acid Alpha-Glucosidase Deficiency 19 62
Alpha-1,4-Glucosidase Deficiency 42 21
Acid Maltase Deficiency Disease 42 21
Deficiency of Glucoamylase 8 62
Deficiency of Maltase 8 62
Glycogenosis Type Ii 19 21
Glycogenosis Type 2 48 62
Pompe's Disease 8 21
Gaa Deficiency 19 21
 
Glycogen Storage Disease Due to Acid Maltase Deficiency 48
Generalized Glycogen Storage Disease of Infants 62
Glycogenosis Due to Acid Maltase Deficiency 48
Deficiency of Lysosomal Alpha-Glucosidase 42
Cardiac Form of Generalized Glycogenosis 62
Alpha-1,4-Glucosidase Acid Deficiency 48
Gsd Due to Acid Maltase Deficiency 48
Glycogen Storage Disease, Type Ii 8
Cardiomegalia Glycogenica Diffusa 42
Glycogen Storage Disease 62
Generalized Glycogenosis 8
Glycogenosis, Type 2 8
Aglucosidase Alfa 42
Gsd Type 2 48
Gsd2 21
Amd 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
pompe disease:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


External Ids:

Disease Ontology8 DOID:2752
MeSH34 D006009
OMIM46 232300
NCIt39 C84734
MESH via Orphanet35 D006009
ICD10 via Orphanet26 E74.0
UMLS via Orphanet63 C0017921

Related Diseases for Glycogen Storage Disease Ii

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Diseases in the Glycogen Storage Disease Ii family:

Glycogen Storage Disease Glycogen Storage Disease Iii
Glycogen Storage Disease I Glycogen Storage Disease V
Glycogen Storage Disease Vi Glycogen Storage Disease Viii
Glycogen Storage Disease Iv Glycogen Storage Disease Vii
Glycogen Storage Disease Ix Glycogen Storage Disease Xv
Glycogen Storage Disease Type 0 Glycogen Storage Disease Type 12
Glycogen Storage Disease Type 13 Glycogen Storage Disease Type 14
Glycogen Storage Disease Type 1a Glycogen Storage Disease Type 1b
Glycogen Storage Disease Iiia Glycogen Storage Disease Iiib
Glycogen Storage Disease Ic Glycogen Storage Disease Ixc
Glycogen Storage Disease Xii Glycogen Storage Disease Type 1d

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

(show all 50)
idRelated DiseaseScoreTop Affiliating Genes
1age related macular degeneration10.8
2myopathy10.6
3glycogen storage disease due to acid maltase deficiency, adult onset10.5
4glycogen storage disease due to acid maltase deficiency, juvenile onset10.5
5glycogen storage disease due to acid maltase deficiency, infantile onset10.5
6glycogen storage disease10.5
7respiratory failure10.4
8sleep disorder10.4
9rigid spine syndrome10.4
10retinitis10.4
11x-linked liver glycogenosis type 210.3
12hepatitis10.3
13muscle disorders10.3
14cleft lip10.3
15choroiditis10.3
16neurological manifestations of pompe disease10.3
17vacuolar myopathy10.2
18dysphagia10.2
19danon disease10.2
20endocardial fibroelastosis10.2
21muscle glycogenosis10.2
22lysosomal storage disease10.1
23mucopolysaccharidosis i10.0
24fabry disease10.0
25hypertrophic cardiomyopathy10.0
26gingival overgrowth10.0
27gingivitis10.0
28mucopolysaccharidosis10.0
29neuromuscular disease10.0
30pulmonary function10.0
31multicystic dysplastic kidney10.0
32stargardt disease10.0
33arthritis10.0
34cataract10.0
35diabetes mellitus10.0
36gastric cancer10.0
37rheumatoid arthritis10.0
38langerhans-cell histiocytosis10.0
39scotoma10.0
40patau syndrome10.0
41sympathetic ophthalmia10.0
42conjunctivitis10.0
43dystonia10.0
44retinal degeneration10.0
45thyroiditis10.0
46adrenomyodystrophy10.0
47bone marrow failure syndrome 210.0
48inflammatory bowel disease10.0
49endotheliitis10.0
50cancer-associated retinopathy10.0

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



Diseases related to glycogen storage disease ii

Symptoms for Glycogen Storage Disease Ii

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Symptoms by clinical synopsis from OMIM:

232300

Clinical features from OMIM:

232300

Symptoms:

48 (show all 25)
  • absent/hypotonic/flaccid abdominal wall muscles
  • 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
  • abnormal emg/electromyogram/electropmyography
  • metabolic anomalies
  • autosomal recessive inheritance
  • 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

HPO human phenotypes related to Glycogen Storage Disease Ii:

(show all 40)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 gait disturbance hallmark (90%) HP:0001288
3 muscle weakness hallmark (90%) HP:0001324
4 hypertrophic cardiomyopathy hallmark (90%) HP:0001639
5 cardiomegaly hallmark (90%) HP:0001640
6 emphysema hallmark (90%) HP:0002097
7 neurological speech impairment hallmark (90%) HP:0002167
8 eeg abnormality hallmark (90%) HP:0002353
9 emg abnormality hallmark (90%) HP:0003457
10 type ii diabetes mellitus hallmark (90%) HP:0005978
11 feeding difficulties in infancy hallmark (90%) HP:0008872
12 aplasia/hypoplasia of the abdominal wall musculature hallmark (90%) HP:0010318
13 cognitive impairment hallmark (90%) HP:0100543
14 muscular hypotonia typical (50%) HP:0001252
15 respiratory insufficiency typical (50%) HP:0002093
16 arrhythmia typical (50%) HP:0011675
17 abnormality of the tongue occasional (7.5%) HP:0000157
18 recurrent respiratory infections occasional (7.5%) HP:0002205
19 hepatomegaly occasional (7.5%) HP:0002240
20 myopathy occasional (7.5%) HP:0003198
21 autosomal recessive inheritance HP:0000007
22 macroglossia HP:0000158
23 hearing impairment HP:0000365
24 muscular hypotonia HP:0001252
25 areflexia HP:0001284
26 cardiomegaly HP:0001640
27 wolff-parkinson-white syndrome HP:0001716
28 splenomegaly HP:0001744
29 fever HP:0001945
30 dyspnea HP:0002094
31 recurrent respiratory infections HP:0002205
32 hepatomegaly HP:0002240
33 respiratory insufficiency due to muscle weakness HP:0002747
34 elevated serum creatine phosphokinase HP:0003236
35 proximal muscle weakness HP:0003701
36 firm muscles HP:0003725
37 cerebral aneurysm HP:0004944
38 shortened pr interval HP:0005165
39 diaphragmatic paralysis HP:0006597
40 abnormal cns myelination HP:0011400

Drugs & Therapeutics for Glycogen Storage Disease Ii

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Ii

Search NIH Clinical Center for Glycogen Storage Disease Ii

Genetic Tests for Glycogen Storage Disease Ii

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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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MalaCards organs/tissues related to Glycogen Storage Disease Ii:

32
Skeletal muscle, Heart, Liver, Lung, Tongue

Animal Models for Glycogen Storage Disease Ii or affiliated genes

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Publications for Glycogen Storage Disease Ii

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Articles related to Glycogen Storage Disease Ii:

idTitleAuthorsYear
1
Molecular genetics of late onset glycogen storage disease II in Italy. (17915575)
2007
2
Echocardiographic features in the cardiac type of glycogen storage disease II. (6572589)
1983
3
Studies in glycogen storage disease. II. Heterogeneity in the inheritance of glycogen storage diseases. (4295468)
1967
4
Glycogen storage disease. II. Histochemical studies of glycogenolysis in human hearts obtained postmortem, with special reference to glycogen storage disease. (24539253)
1950

Variations for Glycogen Storage Disease Ii

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UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ii:

64 (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

Clinvar genetic disease variations for Glycogen Storage Disease Ii:

6
id Gene Name Type Significance SNP ID Assembly Location
1GAANM_000152.3(GAA): c.-32-13T> Gsingle nucleotide variantPathogenicrs386834236GRCh37Chr 17, 78078341: 78078341
2GAANM_000152.3(GAA): c.1935C> A (p.Asp645Glu)single nucleotide variantPathogenicrs28940868GRCh37Chr 17, 78086721: 78086721
3GAANM_000152.3(GAA): c.2482_2646del165 (p.Gly828_Asn882del)deletionPathogenicGRCh37Chr 17, 78091992: 78092156
4GAANM_000152.3(GAA): c.525delT (p.Glu176Argfs)deletionPathogenicrs386834235GRCh37Chr 17, 78078910: 78078910
5GAANM_000152.3(GAA): c.2560C> T (p.Arg854Ter)single nucleotide variantPathogenicrs121907943GRCh37Chr 17, 78092070: 78092070
6GAAGAA, IVS1AS, G-C, -1single nucleotide variantPathogenic

Expression for genes affiliated with Glycogen Storage Disease Ii

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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Ii

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Pathways for genes affiliated with Glycogen Storage Disease Ii

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
UDP-N-acetyl-D-galactosamine biosynthesis I37
galactose degradation I (Leloir pathway)37
Cori Cycle37
9.1GAA, GANC
2
Show member pathways
9.1GAA, GANC
3
Show member pathways
8.6GAA, GANC, GANAB

Compounds for genes affiliated with Glycogen Storage Disease Ii

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Sources:
44Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience
See all sources

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

(show all 12)
idCompoundScoreTop Affiliating Genes
1melibiose44 2410.2GAA, GANC
2D-Maltose249.2GAA, GANC
3D-Galactose249.1GAA, GANC
4sucrose44 24 1111.1GAA, GANC
5Alpha-D-Glucose249.0GANC, GAA
61-deoxymannojirimycin hydrochloride618.9GAA, GANC, GANAB
7ogt 2115618.8GAA, GANC, GANAB
8kifunensine61 44 1110.8GANAB, GANC, GAA
9miglitol61 44 1110.8GAA, GANC, GANAB
101-deoxynojirimycin61 44 1110.8GAA, GANC, GANAB
11D-Glucose248.8GANAB, GANC, GAA
12Water248.3GAA, GANC, GANAB

GO Terms for genes affiliated with Glycogen Storage Disease Ii

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

idNameGO IDScoreTop Affiliating Genes
1maltose alpha-glucosidase activityGO:0324509.0GAA, GANC
2alpha-glucosidase activityGO:0045588.8GAA, GANC
3carbohydrate bindingGO:0302468.6GAA, GANC, GANAB

Products for genes affiliated with Glycogen Storage Disease Ii

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet