GSD3
MCID: GLY003
MIFTS: 33

Glycogen Storage Disease Iii (GSD3) malady

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

Summaries for Glycogen Storage Disease Iii

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22Genetics Home Reference, 44NIH Rare Diseases, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 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:48 232400

GeneReviews summary for gsd3

Aliases & Classifications for Glycogen Storage Disease Iii

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46Novoseek, 63UMLS, 59SNOMED-CT, 48OMIM, 41NCIt, 36MeSH
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Classifications:



Aliases & Descriptions:

glycogen storage disease iii 9
glycogen storage disease type iii 20 22 46 63
glycogen storage disease type 3 44 21 23
forbes disease 20 44 22
cori disease 20 44 22
amylo-1,6-glucosidase deficiency 44 63
glycogen debrancher deficiency 44 22
debrancher deficiency 20 22
limit dextrinosis 44 22
glycogen storage disease, type iii 9
amylo 1,6 glucosidase deficiency 9
deficiency of debranching enzyme 9
deficiency of dextrin 9
agl deficiency 22
cori's disease 22
gsd iii 22
gsdiii 20
gsd3 22


External Ids:

Disease Ontology9 DOID:2748
OMIM48 232400
NCIt41 C84736
MeSH36 D006010

Related Diseases for Glycogen Storage Disease Iii

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18GeneCards, 19GeneDecks
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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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48OMIM
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Clinical features from OMIM:

232400

Drugs & Therapeutics for Glycogen Storage Disease Iii

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Glycogen Storage Disease Iii

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21GeneTests, 23GTR
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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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34MalaCards
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MalaCards organs/tissues related to Glycogen Storage Disease Iii:

34
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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53PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Glycogen Storage Disease Iii:

1
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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2BioGPS, 16Gene 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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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Glycogen Storage Disease Iii

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet