Clinical Signs and Symptoms
ORPHA:369 Glycogen storage disease due to liver glycogen phosphorylase deficiency
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Hepatomegaly HP:0002240
- Increased hepatic glycogen content HP:0006568
- Delayed puberty HP:0000823
- Elevated hepatic transaminase HP:0002910
- Failure to thrive HP:0001508
- Growth delay HP:0001510
- Hypoglycemia HP:0001943
- Ketosis HP:0001946
- Osteopenia HP:0000938
- Osteoporosis HP:0000939
- Abdominal distention HP:0003270
- Exercise-induced muscle cramps HP:0003710
- Hepatic fibrosis HP:0001395
- Hyperlipidemia HP:0003077
- Hypotonia HP:0001252
- Intermittent lactic acidemia HP:0004913
- Irritability HP:0000737
- Motor delay HP:0001270
- Portal fibrosis HP:0006580
- Postexertional malaise HP:0030973
- Short stature HP:0004322
- Sleep disturbance HP:0002360
- Abnormality of the kidney HP:0000077
- Cirrhosis HP:0001394
- Hepatocellular carcinoma HP:0001402
- Hypertrophic cardiomyopathy HP:0001639
- Postprandial hyperlactemia HP:0011997
- Proteinuria HP:0000093
Specialised Social Services
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.