MCID: GLY019
MIFTS: 42

Glycogen Storage Disease Iiia malady

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

Summaries for Glycogen Storage Disease Iiia

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NIH Rare Diseases:43 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 Iiia, also known as glycogen storage disease type 3, is related to hepatocellular carcinoma and liver cirrhosis, and has symptoms including full cheeks, hypoglycemia and abnormality of lipid metabolism. An important gene associated with Glycogen Storage Disease Iiia is AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase). Affiliated tissues include liver and eye.

Genetics Home Reference:23 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.

OMIM:47 Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen... (232400) more...

Wikipedia:65 Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of... more...

GeneReviews summary for gsd3

Aliases & Classifications for Glycogen Storage Disease Iiia

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Sources:
47OMIM, 11diseasecard, 24GTR, 62UMLS, 10Disease Ontology, 21GeneReviews, 23Genetics Home Reference, 45Novoseek, 43NIH Rare Diseases, 49Orphanet, 22GeneTests, 57SNOMED-CT, 35MeSH, 40NCIt, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Glycogen Storage Disease Iiia, Aliases & Descriptions:

Name: Glycogen Storage Disease Iiia 47 11 24 62
Glycogen Storage Disease Type 3 43 22 49 24 62
Forbes Disease 21 43 23 49 62
Glycogen Storage Disease Type Iii 21 23 45 62
Limit Dextrinosis 43 23 49 62
Cori Disease 21 43 23 49
Amylo-1,6-Glucosidase Deficiency 43 49 62
Gsdiii 21 43 49
Glycogen Storage Disease Due to Glycogen Debranching Enzyme Deficiency 43 49
Glycogenosis Due to Glycogen Debranching Enzyme Deficiency 43 49
Gsd Due to Glycogen Debranching Enzyme Deficiency 43 49
Glycogen Debrancher Deficiency 43 23
Glycogen Storage Disease Iiib 47 24
Glycogen Storage Disease Iii 47 10
 
Debrancher Deficiency 21 23
Cori-Forbes Disease 43 49
Glycogenosis Type 3 43 49
Gde Deficiency 43 49
Cori's Disease 23 62
Gsd Type 3 43 49
Glycogen Storage Disease, Type Iii 10
Amylo 1,6 Glucosidase Deficiency 10
Deficiency of Debranching Enzyme 10
Deficiency of Dextrin 10
Agl Deficiency 23
Gsd Iii 23
Gsd3 23


Classifications:



Characteristics (Orphanet epidemiological data):

49
glycogen storage disease type 3:
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: any age


External Ids:

OMIM47 232400
Disease Ontology10 DOID:2748
MeSH35 D006010
NCIt40 C84736
Orphanet49 366
ICD10 via Orphanet28 E74.0
UMLS via Orphanet63 C0017922, C2936915

Related Diseases for Glycogen Storage Disease Iiia

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Graphical network of diseases related to Glycogen Storage Disease Iiia:



Diseases related to glycogen storage disease iiia

Symptoms for Glycogen Storage Disease Iiia

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Symptoms by clinical synopsis from OMIM:

232400

Clinical features from OMIM:

232400

Symptoms:

 49 (show all 9)
  • broad cheeks/cherub-like/cherubin face
  • storage liver disease
  • hypoglycemia
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • myopathy

HPO human phenotypes related to Glycogen Storage Disease Iiia:

(show all 26)
id Description Frequency HPO Source Accession
1 full cheeks hallmark (90%) HP:0000293
2 hypoglycemia hallmark (90%) HP:0001943
3 abnormality of lipid metabolism hallmark (90%) HP:0003119
4 short stature hallmark (90%) HP:0004322
5 abnormality of immune system physiology hallmark (90%) HP:0010978
6 cognitive impairment hallmark (90%) HP:0100543
7 myopathy typical (50%) HP:0003198
8 autosomal recessive inheritance HP:0000007
9 thin upper lip vermilion HP:0000219
10 malar flattening HP:0000272
11 broad nasal tip HP:0000455
12 deeply set eye HP:0000490
13 muscle weakness HP:0001324
14 hepatic fibrosis HP:0001395
15 cardiomyopathy HP:0001638
16 ventricular hypertrophy HP:0001714
17 hypoglycemia HP:0001943
18 hepatomegaly HP:0002240
19 elevated hepatic transaminases HP:0002910
20 hyperlipidemia HP:0003077
21 myopathy HP:0003198
22 elevated serum creatine phosphokinase HP:0003236
23 distal amyotrophy HP:0003693
24 short stature HP:0004322
25 depressed nasal bridge HP:0005280
26 midface retrusion HP:0011800

Drugs & Therapeutics for Glycogen Storage Disease Iiia

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Drug clinical trials:

Search ClinicalTrials for Glycogen Storage Disease Iiia

Search NIH Clinical Center for Glycogen Storage Disease Iiia

Genetic Tests for Glycogen Storage Disease Iiia

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Genetic tests related to Glycogen Storage Disease Iiia:

id Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Iii22 24 AGL
2 Glycogen Storage Disease, Type Iiib24
3 Glycogen Storage Disease Iiia24
4 Glycogen Storage Disease Iiib24

Anatomical Context for Glycogen Storage Disease Iiia

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MalaCards organs/tissues related to Glycogen Storage Disease Iiia:

33
Liver, Eye

Animal Models for Glycogen Storage Disease Iiia or affiliated genes

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Publications for Glycogen Storage Disease Iiia

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Articles related to Glycogen Storage Disease Iiia:

idTitleAuthorsYear
1
Inherent lipid metabolic dysfunction in glycogen storage disease IIIa. (25451272)
2014

Variations for Glycogen Storage Disease Iiia

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

64
id Symbol AA change Variation ID SNP ID
1AGLp.Gly1448ArgVAR_009231

Clinvar genetic disease variations for Glycogen Storage Disease Iiia:

7
id Gene Variation 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
9AGLNM_000642.2(AGL): c.4455delT (p.Ser1486Profs)deletionPathogenicrs113994134GRCh37Chr 1, 100382261: 100382261

Expression for genes affiliated with Glycogen Storage Disease Iiia

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Search GEO for disease gene expression data for Glycogen Storage Disease Iiia.

Pathways for genes affiliated with Glycogen Storage Disease Iiia

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Compounds for genes affiliated with Glycogen Storage Disease Iiia

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GO Terms for genes affiliated with Glycogen Storage Disease Iiia

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Products for genes affiliated with Glycogen Storage Disease Iiia

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Sources for Glycogen Storage Disease Iiia

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4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet