Glycogen Storage Disease Ia (GSD1A)

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Disease Ontology 12 DOID:2749 OMIM 58 232200 KEGG 38 H01939 MeSH 45 D005953 NCIt 51 C84733 SNOMED-CT 69 7265005 ICD10 34 E74.01

ICD10 via Orphanet 35 E74.0 UMLS via Orphanet 75 C0017920 C2919796 Orphanet 60 ORPHA79258 MedGen 43 C0017920 CN069618 SNOMED-CT via HPO 70 109841003 123526007 166603001 166643006 170733007 187769009 190828008 190882007 236403004 237630007 237836003 24184005 248250000 25370001 25821008 258211005 271327008 29738008 300444006 302866003 35885006 38341003 400003000 48440001 55822004 63103006 6400008 64779008 64859006 75183008 75594004 75694006 80515008 90560007 91273001 95692001 more UMLS 74 C0017920 C0268146 C2919796

NIH Rare Diseases : ⁵⁴ Glycogen storage disease type 1 is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally. Researchers have described two types of glycogen storage disease type 1, which differ in their signs and symptoms and genetic cause. These types are known as glycogen storage disease type IA and glycogen storage disease type IB. Glycogen storage disease type 1A is characterized by growth retardation leading to short stature and accumulation of glycogen and fat in the liver and kidneys. Although some newborns present with severe hypoglycemia, it is more common for infants to present at age three to four months with hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, and/or hypoglycemic seizures. Untreated children typically have doll-like faces with fat cheeks and relatively thin extremities. Xanthoma and diarrhea may be present. Impaired platelet function can lead to a bleeding tendency, making epistaxis a frequent problem. Glycogen storage disease type 1A is caused by the deficiency of glucose-6-phosphatase (G6Pase) catalytic activity which results from mutations in the G6PC gene. This condition is inherited in an autosomal recessive pattern. 

MalaCards based summary : Glycogen Storage Disease Ia, also known as glycogen storage disease type i, is related to glycogen storage disease due to glucose-6-phosphatase deficiency and fanconi-bickel syndrome, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Ia is G6PC (Glucose-6-Phosphatase Catalytic Subunit), and among its related pathways/superpathways are Glycolysis / Gluconeogenesis and Carbohydrate digestion and absorption. The drugs Pharmaceutical Solutions and Cassava have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and small intestine, and related phenotypes are hypertension and hepatomegaly

Disease Ontology : ¹² A glycogen storage disease that has material basis in deficiency of the glucose-6-phosphatase enzyme which impairs the ability of the liver to produce free glucose from glycogen and from gluconeogenesis and is characterized by accumulation of glycogen and fat in the liver and kidneys, resulting in hepatomegaly and renomegaly.

Genetics Home Reference : ²⁶ Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

OMIM : ⁵⁸ Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993). (232200)

UniProtKB/Swiss-Prot : ⁷⁶ Glycogen storage disease 1A: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

Wikipedia : ⁷⁷ Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen... more...

GeneReviews: NBK1312

Clinical features from OMIM:

232200

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