GSD3
MCID: GLY003
MIFTS: 33

Glycogen Storage Disease Iii (GSD3) malady

Summaries for Glycogen Storage Disease Iii

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 Glycogen storage disease type 3 (gsdiii) is an inherited disorder caused by the buildup of glycogen in the body's cells. this buildup impairs the function of certain organs and tissues, especially the liver and muscles. symptoms typically begin in infancy and may include hypoglycemia, hyperlipidemia (excess of fats in the blood), and elevated blood levels of liver enzymes; later symptoms may include hepatomegaly, chronic liver disease (cirrhosis) and liver failure later in life. some individuals have short stature and noncancerous (benign) tumors called adenomas in the liver. gsdiii is cause by mutations in the agl gene and is inherited in an autosomal recessive manner. treatment typically includes a high-protein diet with cornstarch supplementation to maintain a normal level of glucose in the blood. gsdiii is divided into types iiia, iiib, iiic, and iiid; types iiia and iiic mainly affect the liver and muscles, and gsd types iiib and iiid typically affect only the liver. last updated: 2/13/2012

MalaCards: Glycogen Storage Disease Iii, also known as glycogen storage disease type iii, is related to liver cirrhosis and costello syndrome. An important gene associated with Glycogen Storage Disease Iii is AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase). Affiliated tissues include liver, bone and endothelial.

Genetics Home Reference:21 Glycogen storage disease type III (also known as GSDIII or Cori disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles.

Description from OMIM:46 232400

GeneReviews summary for gsd3

Aliases & Classifications for Glycogen Storage Disease Iii

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8Disease Ontology, 19GeneReviews, 21Genetics Home Reference, 44Novoseek, 60UMLS, 42NIH Rare Diseases, 20GeneTests, 22GTR, 56SNOMED-CT, 34MeSH, 39NCIt, 46OMIM
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Aliases & Descriptions:

glycogen storage disease iii 8
glycogen storage disease type iii 19 21 44 60
glycogen storage disease type 3 42 20 22
forbes disease 19 42 21
cori disease 19 42 21
amylo-1,6-glucosidase deficiency 42 60
glycogen debrancher deficiency 42 21
debrancher deficiency 19 21
limit dextrinosis 42 21
glycogen storage disease, type iii 8
deficiency of debranching enzyme 8
amylo 1,6 glucosidase deficiency 8
deficiency of dextrin 8
agl deficiency 21
cori's disease 21
gsd iii 21
gsdiii 19
gsd3 21


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Disease Ontology8 DOID:2748
MeSH34 D006010
NCIt39 C84736
OMIM46 232400

Related Diseases for Glycogen Storage Disease Iii

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Glycogen Storage Disease Iii:



Diseases related to glycogen storage disease iii

Clinical Features for Glycogen Storage Disease Iii

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46OMIM
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Clinical features from OMIM:

232400

Drugs & Therapeutics for Glycogen Storage Disease Iii

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Genetic Tests for Glycogen Storage Disease Iii

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20GeneTests, 22GTR
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Genetic tests related to Glycogen Storage Disease Iii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iii20 22 AGL

Anatomical Context for Glycogen Storage Disease Iii

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32MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iii:

32
Liver, Bone, Endothelial

Animal Models for Glycogen Storage Disease Iii or affiliated genes

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Publications for Glycogen Storage Disease Iii

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50PubMed
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Articles related to Glycogen Storage Disease Iii:

(show top 50)    (show all 63)
idTitleAuthorsYear
1
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene. (23430490)
2013
2
Exercise intolerance in Glycogen Storage Disease Type III: weakness or energy deficiency? (23507172)
2013
3
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III. (23318145)
2013
4
High frequency of W1327X mutation in glycogen storage disease type III patients from central Tunisia. (23207808)
2012
5
Delayed diagnosis of glycogen storage disease type III. (21691223)
2012
6
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III. (22089644)
2012
7
Type III glycogen storage disease mimicking hypertrophic cardiomyopathy. (22087010)
2012
8
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect. (22035446)
2012
9
Two Cases of Pulmonary Hypertension Associated with Type III Glycogen Storage Disease. (23430832)
2011
10
Phenotypical variability in glycogen storage disease type III with a recurrent AGL mutation c.750-753delAGAC. (21321962)
2011
11
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III. (20648714)
2010
12
Glycogen storage disease type III diagnosis and management guidelines. (20631546)
2010
13
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. (20526204)
2010
14
An association among iron, copper, zinc, and selenium, and antioxidative status in dyslipidemic pediatric patients with glycogen storage disease types IA and III. (20122579)
2010
15
Glycogen storage disease type III with hypoketosis. (21073127)
2010
16
Diabetes mellitus associated with glycogen storage disease type III. (19334047)
2009
17
A monocentric pilot study of an antioxidative defense and hsCRP in pediatric patients with glycogen storage disease type IA and III. (19073362)
2009
18
Glycogen storage disease type III presenting with secondary diabetes and managed with insulin: a case report. (19829878)
2009
19
Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]. (19951465)
2009
20
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations. (19834502)
2009
21
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
22
Distinct mutations in the glycogen debranching enzyme found in glycogen storage disease type III lead to impairment in diverse cellular functions. (19299494)
2009
23
Severe hypertriglyceridemia and recurrent pancreatitis in a girl with type Ia glycogen storage disease and type III hyperlipoproteinemia. (19842193)
2009
24
Clinical and pathological features of glycogen storage disease type III]. (19595259)
2009
25
Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control. (18709545)
2008
26
Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III. (18785866)
2008
27
Glycogen storage disease type III-hepatocellular carcinoma a long-term complication? (17196294)
2007
28
Does increased fatty acid oxidation enhance development of liver cirrhosis and progression to hepatocellular carcinoma in patients with glycogen storage disease type-III? (17570555)
2007
29
Prediction of premature atherosclerosis by endothelial dysfunction and increased intima-media thickness in glycogen storage disease types Ia and III. (17907509)
2007
30
Successful pregnancy in a woman with glycogen storage disease type III. (16638043)
2006
31
Glycogen storage disease type III in Inuit children. (15684118)
2005
32
Mutation analysis of glycogen debrancher enzyme gene in five Chinese patients with glycogen storage disease type III]. (15833157)
2005
33
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese. (15542399)
2004
34
Bone mineral density and markers of bone turnover in patients with glycogen storage disease types I, III and IX. (14970741)
2004
35
Absence of specific facial dysmorphy in glycogen storage disease type III. (14564167)
2003
36
Images in cardiovascular medicine. Myocardial fibrosis in glycogen storage disease type III. (12600925)
2003
37
Phenylketonuria and glycogen storage disease type III in sibs of one family. (11859869)
2002
38
Molecular characterization of glycogen storage disease type III. (11949933)
2002
39
A case of Costello syndrome and glycogen storage disease type III. (11836377)
2002
40
Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect. (12358666)
2002
41
Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis. (11916322)
2001
42
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease. (10655153)
2000
43
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers. (9483641)
1998
44
Polymorphic markers of the glycogen debranching enzyme gene allowing linkage analysis in families with glycogen storage disease type III. (9032647)
1997
45
A novel donor splice site mutation in the glycogen debranching enzyme gene is associated with glycogen storage disease type III. (8702417)
1996
46
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle. (8755644)
1996
47
A case of glycogen storage disease type III (glycogen debranching enzyme deficiency) with liver cirrhosis and hypertrophic cardiomyopathy. (8553356)
1995
48
Glycogen storage disease type III (glycogen debranching enzyme deficiency): correlation of biochemical defects with myopathy and cardiomyopathy. (1580445)
1992
49
Immunoblot analyses of glycogen debranching enzyme in different subtypes of glycogen storage disease type III. (2295969)
1990
50
Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. (6584026)
1984

Genetic Variations for Glycogen Storage Disease Iii

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Expression for genes affiliated with Glycogen Storage Disease Iii

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Glycogen Storage Disease Iii

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Pathways for genes affiliated with Glycogen Storage Disease Iii

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Compounds for genes affiliated with Glycogen Storage Disease Iii

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GO Terms for genes affiliated with Glycogen Storage Disease Iii

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Products for genes affiliated with Glycogen Storage Disease Iii

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Sources for Glycogen Storage Disease Iii

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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