Glycogen Storage Disease Ia (GSD1A)

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OMIM 57 232200 Disease Ontology 12 DOID:2749 ICD10 33 E74.01 MeSH 44 D005953 NCIt 50 C84733 SNOMED-CT 68 7265005 Orphanet 59 ORPHA79258

UMLS via Orphanet 74 C0017920 C2919796 ICD10 via Orphanet 34 E74.0 MedGen 42 C0017920 CN069618 KEGG 37 H01939 SNOMED-CT via HPO 69 258211005 29738008 236403004 25821008 300444006 95692001 24184005 38341003 123526007 400003000 64859006 63103006 6400008 75594004 109841003 187769009 25370001 75694006 248250000 64779008 237630007 271327008 302866003 170733007 190828008 48440001 90560007 80515008 166603001 166643006 75183008 55822004 190882007 91273001 237836003 more UMLS 73 C0017920 C2919796 C0268146

NIH Rare Diseases : ⁵³ 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 Hypoglycemic Agents 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 : ²⁵ 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 : ⁵⁷ 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 : ⁷⁵ 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 : ⁷⁶ 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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