eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| glycogen storage disease ia | ||||
| Disease ID | 203 |
|---|---|
| Disease | glycogen storage disease ia |
| Definition | An autosomal recessive disease in which gene expression of glucose-6-phosphatase is absent, resulting in hypoglycemia due to lack of glucose production. Accumulation of glycogen in liver and kidney leads to organomegaly, particularly massive hepatomegaly. Increased concentrations of lactic acid and hyperlipidemia appear in the plasma. Clinical gout often appears in early childhood. |
| Synonym | defic glucosephosphatase deficiencies, glucose-6-phosphatase deficiencies, glucosephosphatase deficiency of glucose-6-phosphatase deficiency of glucose-6-phosphatase (disorder) deficiency, glucose-6-phosphatase deficiency, glucosephosphatase disease glycogen i storage type disease, gierke disease, gierke's disease, von gierke disease, von gierke's diseases gierke's von gierke dis gierke disease gierke's disease gierkes dis gierkes disease glucose 6 phosphatase defic glucose 6 phosphatase deficiency glucose phosphatase deficiency 06 glucose-6-phosphatase deficiencies glucose-6-phosphatase deficiency glucosephosphatase defic glucosephosphatase deficiencies glucosephosphatase deficiency glycogen storage dis i glycogen storage disease 1 (gsd i) glycogen storage disease i glycogen storage disease type i glycogen storage disease type i [disease/finding] glycogen storage disease, type 1 glycogen storage disease, type i glycogen storage disease, type i (disorder) glycogenosis 01 glycogenosis 1 glycogenosis type i glycogenosis, hepatorenal glycogenosis, type i gsd i gsd ia gsd1 gsd1a hepatorenal form of glycogen storage disease hepatorenal glycogen storage dis hepatorenal glycogen storage disease hepatorenal glycogenosis i glycogen storage disease liver glycogen disease type i glycogen storage disease von gierke disease von gierke's disease von gierkes disease |
| Orphanet | |
| OMIM | |
| DOID | |
| ICD10 | |
| UMLS | C0017920 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:30) C0023890 | cirrhosis | 3 C0206669 | hepatocellular adenoma | 3 C0878544 | cardiomyopathy | 3 C0023890 | liver cirrhosis | 2 C0020538 | hypertension | 2 C0206669 | hepatocellular adenomas | 2 C0028754 | obesity | 2 C0002871 | anemia | 1 C0019204 | hepatocellular carcinoma | 1 C0018099 | gout | 1 C0021390 | inflammatory bowel disease | 1 C0029134 | optic neuritis | 1 C0020598 | hypoglycaemia | 1 C0001430 | adenoma | 1 C0020542 | pulmonary hypertension | 1 C0026848 | myopathy | 1 C0020617 | hypoglycaemic coma | 1 C0026846 | muscle atrophy | 1 C0001339 | acute pancreatitis | 1 C0007194 | hypertrophic cardiomyopathy | 1 C0021831 | bowel disease | 1 C0032460 | polycystic ovary syndrome | 1 C0018916 | hemangioma | 1 C0023895 | hepatic disease | 1 C0020437 | hypercalcemia | 1 C0030312 | pancytopenia | 1 C0023895 | liver disease | 1 C0030305 | pancreatitis | 1 C0010068 | coronary artery disease | 1 C0206698 | cholangiocellular carcinoma | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:20) 229 | ALDOB | 3.211 | DISEASES 336 | APOA2 | 1.227 | DISEASES 344 | APOC2 | 1.752 | DISEASES 659 | BMPR2 | 1.404 | DISEASES 1192 | CLIC1 | 4.567 | DISEASES 5476 | CTSA | 1.322 | DISEASES 28514 | DLL1 | 2.032 | DISEASES 2564 | GABRE | 2.868 | DISEASES 2632 | GBE1 | 3.772 | DISEASES 2641 | GCG | 2.656 | DISEASES 3030 | HADHA | 1.061 | DISEASES 3482 | IGF2R | 1.498 | DISEASES 3572 | IL6ST | 2.12 | DISEASES 5091 | PC | 1.888 | DISEASES 5256 | PHKA2 | 3.9 | DISEASES 6191 | RPS4X | 3.093 | DISEASES 51150 | SDF4 | 1.615 | DISEASES 10165 | SLC25A13 | 1.787 | DISEASES 6514 | SLC2A2 | 1.971 | DISEASES 8408 | ULK1 | 1.703 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 203 |
|---|---|
| Disease | glycogen storage disease ia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Manually Genotypes:2) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| G6PC | p.R83C | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
| G6PC | p.R83C*34,35 | doi:10.1038/gim.2015.123 | Expanded genetic screening panel for the Ashkenazi Jewish population |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:5) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1801175 | 15542400 | 2538 | G6PC | umls:C0017920 | UNIPROT | Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). | 0.45486329 | 2004 | G6PC | 17 | 42903947 | C | T |
| rs1801176 | 10748407 | 2538 | G6PC | umls:C0017920 | BeFree | Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based diagnostic methods can detect 95% of the G6Pase mutant alleles in Japanese patients with GSD-Ia, and remaining mutations can be identified and characterized by the direct sequencing of genomic DNA and/or the analysis of ectopically expressed mRNA. | 0.45486329 | 2000 | G6PC | 17 | 42903948 | G | A |
| rs1801176 | 12373566 | 2538 | G6PC | umls:C0017920 | UNIPROT | Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G>T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma. | 0.45486329 | 2002 | G6PC | 17 | 42903948 | G | A |
| rs373345919 | 10748407 | 2538 | G6PC | umls:C0017920 | BeFree | Our findings suggest that a screening for the g727t, R170X, and R83H mutations by simple DNA-based diagnostic methods can detect 95% of the G6Pase mutant alleles in Japanese patients with GSD-Ia, and remaining mutations can be identified and characterized by the direct sequencing of genomic DNA and/or the analysis of ectopically expressed mRNA. | 0.45486329 | 2000 | G6PC | 17 | 42909364 | C | T |
| rs80356482 | 12373566 | 2538 | G6PC | umls:C0017920 | BeFree | Some genotype-phenotype correlations exist, for example, homozygosity for one G6PC mutation, G188R, seems to be associated with a glycogen storage disease type I non-a phenotype and homozygosity for the 727G>T mutation may be associated with a milder phenotype but an increased risk for hepatocellular carcinoma. | 0.45486329 | 2002 | G6PC | 17 | 42909418 | G | A,C |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003128 | Lactic acidosis | MP:0003031 | acidosis | a pathological state characterized by an increase in the hydrogen ion concentration in tissues and blood caused by an decrease in the concentration of alkaline compounds, or by a increase in the concentration of acidic compounds or carbon dioxide to the b |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0005264 | glomerulosclerosis | hyaline deposits or scarring within the renal glomeruli, often occurring with renal arteriosclerosis or diabetes |
| HP:0002910 | Elevated hepatic transaminases | MP:0002628 | hepatic steatosis | an accumulation of fat deposits in the liver |
| HP:0001402 | Hepatocellular carcinoma | MP:0010367 | increased spindle cell carcinoma incidence | greater than the expected number of a highly malignant variant of squamous cell carcinoma, occurring in a specific population in a given time period; spindle cell carcinoma shows biphasic proliferation of conventional SCC component and malignant spindle s |
| HP:0001892 | Abnormal bleeding | MP:0005606 | increased bleeding time | greater than the normal duration of blood flow after skin puncture; indicative of platelet and capillary function |
| HP:0001538 | Protuberant abdomen | MP:0001270 | distended abdomen | abdomen appears curved outward or swollen |
| HP:0003199 | Decreased muscle mass | MP:0009404 | centrally nucleated skeletal muscle fibers | cell nuclei are located at a position in the center of the skeletal myofiber, instead of their normal location at the periphery of the fiber; may be indicative of centronuclear myopathy |
Mapped by homologous gene(Total Items:24) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003077 | Hyperlipidemia | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000097 | Focal segmental glomerulosclerosis | MP:0013310 | abnormal adrenal gland development | aberrant formation or incomplete differentiation of the pair of endocrine glands located above the kidney that are responsible for steroid hormone secretion from the cortex and neurotransmitter (such as epinephrine and norepinephrine) secretion from the m |
| HP:0000105 | Enlarged kidneys | MP:0013723 | increased circulating tyrosine level | the amount of the amino acid histidine in the blood is more than expected |
| HP:0003199 | Decreased muscle mass | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0004322 | Short stature | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002240 | Hepatomegaly | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0000295 | Doll-like facies | MP:0011363 | renal glomerulus atrophy | acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfu |
| HP:0000991 | Xanthomatosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000093 | Proteinuria | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001892 | Abnormal bleeding | MP:0020138 | delayed bone mineralization | late onset of the process by which minerals are deposited into bone |
| HP:0003128 | Lactic acidosis | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0001997 | Gout | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0002910 | Elevated hepatic transaminases | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0001943 | Hypoglycemia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0012213 | Decreased glomerular filtration rate | MP:0011363 | renal glomerulus atrophy | acquired diminution of the size of the capillary loops of the kidney associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfu |
| HP:0000787 | Nephrolithiasis | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0001402 | Hepatocellular carcinoma | MP:0013745 | abnormal eyelid margin morphology | any structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium |
| HP:0000823 | Delayed puberty | MP:0020087 | increased susceptibility to non-insulin-dependent diabetes | increased likelihood to develop non-insulin-dependent diabetes |
| HP:0000660 | Lipemia retinalis | MP:0011582 | decreased triglyceride lipase activity | reduced ability to catalyze the reaction: triacylglycerol + H2O = diacylglycerol + a fatty acid anion |
| HP:0001733 | Pancreatitis | MP:0020134 | abnormal gallbladder size | an anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile |
| HP:0001538 | Protuberant abdomen | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002254 | Intermittent diarrhea | MP:0013659 | abnormal erythroid lineage cell morphology | any structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes |
| HP:0000822 | Hypertension | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| Disease ID | 203 |
|---|---|
| Disease | glycogen storage disease ia |
| Case | (Waiting for update.) |