Glycogen storage disease due to hepatic glycogen synthase deficiency

A genetically inherited anomaly of glycogen metabolism and a form of glycogen storage disease (GSD) characterized by fasting hypoglycemia. This is not a glycogenosis, strictly speaking, as the enzyme deficiency decreases glycogen reserves.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000737 Irritability Frequent (79-30%)
HP:0001946 Ketosis Frequent (79-30%)
HP:0002919 Ketonuria Frequent (79-30%)
HP:0003076 Glycosuria Frequent (79-30%)
HP:0011998 Postprandial hyperglycemia Frequent (79-30%)
HP:0012734 Ketotic hypoglycemia Frequent (79-30%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001254 Lethargy Occasional (29-5%)
HP:0001263 Global developmental delay Occasional (29-5%)
HP:0001508 Failure to thrive Occasional (29-5%)
HP:0002910 Elevated hepatic transaminase Occasional (29-5%)
HP:0003077 Hyperlipidemia Occasional (29-5%)
HP:0004322 Short stature Occasional (29-5%)
HP:0011024 Abnormality of the gastrointestinal tract Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
GYS2 glycogen synthase 2 2998