glycogen storage disease
HP:0003542 · SaudiVarKB evidence summary derived from retained literature mentions.
18Phenotype mentions
18Publications
27Associated gene records
7Associated variant records
Associated gene records
Co-mentioned in the same publications| Gene | Identifier / context | Articles | Mentions |
|---|---|---|---|
| AGL | HGNC:321 | 2 | 2 |
| CD40 | HGNC:11919 | 1 | 1 |
| G6PD | HGNC:4057 | 1 | 1 |
| G6PC1 | HGNC:4056 | 1 | 1 |
| ABCB1 | HGNC:40 | 1 | 1 |
| LDLR | HGNC:6547 | 1 | 1 |
| BRAF | HGNC:1097 | 1 | 1 |
| ASPM | HGNC:19048 | 1 | 1 |
| ATP8B1 | HGNC:3706 | 1 | 1 |
| EGFR | HGNC:3236 | 1 | 1 |
| PHKA2 | HGNC:8926 | 1 | 1 |
| CD44 | HGNC:1681 | 1 | 1 |
| FTO | HGNC:24678 | 1 | 1 |
| ZFP36 | HGNC:12862 | 1 | 1 |
| KIF2A | HGNC:6318 | 1 | 1 |
| RPL27A | HGNC:10329 | 1 | 1 |
| CD200R1 | HGNC:24235 | 1 | 1 |
| STAMBP | HGNC:16950 | 1 | 1 |
| CD226 | HGNC:16961 | 1 | 1 |
| IDH1 | HGNC:5382 | 1 | 1 |
| IDH2 | HGNC:5383 | 1 | 1 |
| OGT | HGNC:8127 | 1 | 1 |
| TMEM70 | HGNC:26050 | 1 | 1 |
| PHKG2 | HGNC:8931 | 1 | 1 |
| PHKA1 | HGNC:8925 | 1 | 1 |
| PHKB | HGNC:8927 | 1 | 1 |
| PGAM2 | HGNC:8889 | 1 | 1 |
Associated variant records
Co-mentioned in the same publications| Variant | Identifier / context | Articles | Mentions |
|---|---|---|---|
| p.Arg83Cys | p.Arg83Cys | 1 | 1 |
| p.Gln20Arg | p.Gln20Arg | 1 | 1 |
| p.W577C | p.W577C | 1 | 1 |
| G894T | G894T | 1 | 1 |
| IVS32 | IVS32 | 1 | 1 |
| p.G220E | p.G220E | 1 | 1 |
| c.687dupC | c.687dupC | 1 | 1 |
Associated population records
Co-mentioned in the same publications| Population | Identifier / context | Articles | Mentions |
|---|---|---|---|
| Population record | Cohort 11 | 1 | 1 |
| Saudi Arabia · Riyadh | — | 1 | 1 |
| Population record | Cohort 5 | 1 | 1 |
| Population record | Cohort 26 | 1 | 1 |
| Saudi Arabia | Cohort 65 | 1 | 1 |
| Saudi Arabia · Asir | — | 1 | 1 |
| Saudi Arabia · Madinah | Cohort 3 | 1 | 1 |
| Saudi Arabia · Riyadh | Cohort 41 | 1 | 1 |
| Saudi Arabia | Cohort 36 | 1 | 1 |
| Saudi Arabia · Eastern Province | Cohort 18 | 1 | 1 |
Supporting publications
18 records- 2025MRI features of hepatocellular adenomas in children: clinical and radiological review.Pediatric radiology1 mentions
- 2025Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.PloS one1 mentions
- 2025Update on glycogen storage disease: a brief review of the main disorders.Cellular and molecular biology (Noisy-le-Grand, France)1 mentions
- 2022Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report.Cureus1 mentions
- 2022Wernicke's Encephalopathy: A Precipitation of Glycogen Storage Disease.Cureus1 mentions
- 2021Targeted exome sequencing identified a novel frameshift variant in the PGAM2 gene causing glycogen storage disease type X.European journal of medical genetics1 mentions
- 2016Abstracts from the 3rd International Genomic Medicine Conference (3rd IGMC 2015) : Jeddah, Kingdom of Saudi Arabia. 30 November - 3 December 2015.BMC genomics1 mentions
- 2014Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.European journal of pediatrics1 mentions
- 2014First fully laparoscopic donor hepatectomy for pediatric liver transplantation using the indocyanine green near-infrared fluorescence imaging in the Middle East: a case report.Annals of Saudi medicine1 mentions
- 2014A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.Annals of Saudi medicine1 mentions
- 2013Unforeseen cardiac involvement in McArdle's disease.Heart, lung & circulation1 mentions
- 2007Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course.Journal of child neurology1 mentions
- 2004Association of sickle cell anemia and glycogen storage disease type 1a.Saudi medical journal1 mentions
- 2003A simple, rapid test for the differential diagnosis of glycogen storage disease type 3.Clinica chimica acta; international journal of clinical chemistry1 mentions
- 1994Cystic fibrosis and the liver--a Saudi experience.Annals of tropical paediatrics1 mentions
- 1993Pediatric liver disease in the eastern province of Saudi Arabia: A clinicopathological study.Annals of Saudi medicine1 mentions
- 1993Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.American journal of diseases of children (1960)1 mentions
- 1987Ultrasound findings in childhood chronic liver parenchymal diseases. An analysis of 41 patients.European journal of pediatrics1 mentions