GSD3
MCID: GLY003
MIFTS: 34

Glycogen Storage Disease Iii (GSD3) malady

Genetic diseases, Rare diseases, Metabolic diseases, Liver diseases, Neuronal diseases, Cardiovascular diseases, Blood diseases, Muscle diseases, Nephrological diseases categories

Summaries for Glycogen Storage Disease Iii

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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 based summary: Glycogen Storage Disease Iii, also known as glycogen storage disease type iii, is related to glycogen storage disease and hepatocellular carcinoma. An important gene associated with Glycogen Storage Disease Iii is AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase). Affiliated tissues include liver.

Genetics Home Reference:22 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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Glycogen Storage Disease Iii, Aliases & Descriptions:

Name: Glycogen Storage Disease Iii 9
Glycogen Storage Disease Type Iii 20 22 44 61
Glycogen Storage Disease Type 3 42 21 23
Forbes Disease 20 42 22
Cori Disease 20 42 22
Amylo-1,6-Glucosidase Deficiency 42 61
Glycogen Debrancher Deficiency 42 22
Deficiency of Dextrin 9 61
Debrancher Deficiency 20 22
 
Limit Dextrinosis 42 22
Glycogen Storage Disease, Type Iii 9
Amylo 1,6 Glucosidase Deficiency 9
Deficiency of Debranching Enzyme 9
Agl Deficiency 22
Cori's Disease 22
Gsd Iii 22
Gsdiii 20
Gsd3 22


Classifications:



External Ids:

Disease Ontology9 DOID:2748
OMIM46 232400
MeSH34 D006010
NCIt39 C84736

Related Diseases for Glycogen Storage Disease Iii

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Graphical network of diseases related to Glycogen Storage Disease Iii:



Diseases related to glycogen storage disease iii

Symptoms for Glycogen Storage Disease Iii

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Clinical features from OMIM:

232400

Drugs & Therapeutics for Glycogen Storage Disease Iii

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Iii

Search NIH Clinical Center for Glycogen Storage Disease Iii

Genetic Tests for Glycogen Storage Disease Iii

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Genetic tests related to Glycogen Storage Disease Iii:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iii21 23 AGL

Anatomical Context for Glycogen Storage Disease Iii

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MalaCards organs/tissues related to Glycogen Storage Disease Iii:

32
Liver

Animal Models for Glycogen Storage Disease Iii or affiliated genes

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Publications for Glycogen Storage Disease Iii

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Articles related to Glycogen Storage Disease Iii:

idTitleAuthorsYear
1
Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time. (20526204)
2010
2
Premature coronary artery disease in a patient with glycogen storage disease III. (20679683)
2010
3
Cardiac involvement in glycogen storage disease III: morphologic and biochemical characterization with endomyocardial biopsy. (6584026)
1984

Variations for Glycogen Storage Disease Iii

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Clinvar genetic disease variations for Glycogen Storage Disease Iii:

7
id Gene Name Type Significance SNP ID Assembly Location
1AGLNM_000642.2(AGL): c.16C> T (p.Gln6Ter)single nucleotide variantPathogenicrs113994126GRCh37Chr 1, 100316614: 100316614
2AGLNM_000642.2(AGL): c.2039G> A (p.Trp680Ter)single nucleotide variantPathogenicrs113994129GRCh37Chr 1, 100346885: 100346885
3AGLNM_000642.2(AGL): c.17_18delAG (p.Gln6Hisfs)deletionPathogenicrs113994127GRCh37Chr 1, 100316615: 100316616
4AGLNM_000642.2(AGL): c.4260-12A> Gsingle nucleotide variantPathogenicGRCh37Chr 1, 100382143: 100382143
5AGLNM_000642.2(AGL): c.3965delT (p.Val1322Alafs)deletionPathogenicrs113994132GRCh37Chr 1, 100379098: 100379098
6AGLNM_000642.2(AGL): c.1222C> T (p.Arg408Ter)single nucleotide variantPathogenicrs113994128GRCh37Chr 1, 100340950: 100340950
7AGLNM_000642.2(AGL): c.2590C> T (p.Arg864Ter)single nucleotide variantPathogenicrs113994130GRCh37Chr 1, 100350168: 100350168
8AGLNM_000642.2(AGL): c.3682C> T (p.Arg1228Ter)single nucleotide variantPathogenicrs113994131GRCh37Chr 1, 100368332: 100368332

Expression for genes affiliated with Glycogen Storage Disease Iii

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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet