Glycogen Storage Disease Iii (GSD3)

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OMIM 57 232400 Disease Ontology 12 DOID:2748 ICD10 33 E74.03 MeSH 44 D006010 NCIt 50 C84736 SNOMED-CT 68 66937008 Orphanet 59 ORPHA366

ICD10 via Orphanet 34 E74.0 UMLS via Orphanet 74 C0017922 C2936915 MedGen 42 C0017922 C1968739 C1968740 C1968741 C1968742 more KEGG 37 H01941 SNOMED-CT via HPO 69 258211005 301348000 249327002 246923005 80093006 86765009 26544005 62484002 57809008 85898001 266249003 237630007 271327008 302866003 80515008 234532001 166603001 166643006 75183008 55822004 129565002 237836003 more UMLS 73 C0017922 C2936915 C1968740 C1968739 C1968741 C1968742 more

OMIM : ⁵⁷ Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990). Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996). Lucchiari et al. (2007) provided a review of GSD III. (232400)

MalaCards based summary : Glycogen Storage Disease Iii, also known as glycogen storage disease type iii, is related to glycogen storage disease and liver cirrhosis. An important gene associated with Glycogen Storage Disease Iii is AGL (Amylo-Alpha-1, 6-Glucosidase, 4-Alpha-Glucanotransferase), and among its related pathways/superpathways are Starch and sucrose metabolism and Metabolism. The drugs Hormones and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skeletal muscle, and related phenotypes are short stature and intellectual disability, mild

Genetics Home Reference : ²⁵ 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.

NIH Rare Diseases : ⁵³ 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.

UniProtKB/Swiss-Prot : ⁷⁵ Glycogen storage disease 3: A metabolic disorder associated with an accumulation of abnormal glycogen with short outer chains. It is clinically characterized by hepatomegaly, hypoglycemia, short stature, and variable myopathy. Glycogen storage disease type 3 includes different forms: GSD type 3A patients lack glycogen debrancher enzyme activity in both liver and muscle, while GSD type 3B patients are enzyme-deficient in liver only. In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in GSD type 3C or type 3D, respectively.

Wikipedia : ⁷⁶ Glycogen storage disease type III is an autosomal recessive metabolic disorder and inborn error of... more...

GeneReviews: NBK26372

Clinical features from OMIM:

232400

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased DCP1a protein expression and assembly in processing bodies after arsenite stimulation	GR00203-A	8.8	AGL ALDOB PIK3C2A

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