PedAM

Pediatric Disease Annotations & Medicines


	glycogen storage disease ia

Disease ID	360
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
OMIM	OMIM:232200
DOID	DOID:2749
ICD10	ICD10CM:E74.01
UMLS	C0017920
MeSH	D005953
SNOMED-CT	SNOMEDCT_US_2016_09_01:124437004;SNOMEDCT_US_2016_09_01:7265005
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) G6PC \| 2538 \| CTD_human;UNIPROT;ORPHANET;GHR
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 2538 \| G6PC \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:43) 6820 \| SULT2B1 \| DISEASES 5836 \| PYGL \| DISEASES 3036 \| HAS1 \| DISEASES 1440 \| CSF3 \| DISEASES 2584 \| GALK1 \| DISEASES 338 \| APOB \| DISEASES 3630 \| INS \| DISEASES 9113 \| LATS1 \| DISEASES 2538 \| G6PC \| DISEASES 29113 \| C6orf15 \| DISEASES 5687 \| PSMA6 \| DISEASES 6095 \| RORA \| DISEASES 23476 \| BRD4 \| DISEASES 6523 \| SLC5A1 \| DISEASES 92579 \| G6PC3 \| DISEASES 5868 \| RAB5A \| DISEASES 5047 \| PAEP \| DISEASES 1636 \| ACE \| DISEASES 178 \| AGL \| DISEASES 11067 \| C10orf10 \| DISEASES 3251 \| HPRT1 \| DISEASES 2548 \| GAA \| DISEASES 7369 \| UMOD \| DISEASES 6514 \| SLC2A2 \| DISEASES 8408 \| ULK1 \| DISEASES 3572 \| IL6ST \| DISEASES 3482 \| IGF2R \| DISEASES 51150 \| SDF4 \| DISEASES 28514 \| DLL1 \| DISEASES 336 \| APOA2 \| DISEASES 2564 \| GABRE \| DISEASES 5476 \| CTSA \| DISEASES 6191 \| RPS4X \| DISEASES 659 \| BMPR2 \| DISEASES 229 \| ALDOB \| DISEASES 1192 \| CLIC1 \| DISEASES 5256 \| PHKA2 \| DISEASES 3030 \| HADHA \| DISEASES 5091 \| PC \| DISEASES 2641 \| GCG \| DISEASES 10165 \| SLC25A13 \| DISEASES 2632 \| GBE1 \| DISEASES 344 \| APOC2 \| DISEASES
Locus	(Waiting for update.)

Disease ID	360
Disease	glycogen storage disease ia
Integrated Phenotype	HPO \| Name(Total Integrated Phenotypes:24) HP:0003077 \| Hyperlipidemia HP:0004322 \| Stature below 3rd percentile HP:0000660 \| Lipemia retinalis HP:0002910 \| Elevated transaminases HP:0000105 \| Renal enlargement HP:0003128 \| Lactic acidosis HP:0002240 \| Enlarged liver HP:0001402 \| Hepatocellular carcinoma HP:0002254 \| Intermittent diarrhea HP:0000097 \| focal glomerulosclerosis HP:0001997 \| Gout HP:0000822 \| Hypertension HP:0003199 \| Decreased muscle mass HP:0001943 \| Hypoglycemia HP:0000991 \| Xanthomata HP:0000093 \| Proteinuria HP:0000939 \| Osteoporosis HP:0001538 \| Protuberant abdomen HP:0012213 \| Reduced creatinine clearance HP:0000787 \| Renal calculi HP:0001892 \| Bleeding diathesis HP:0000295 \| Doll-like facies HP:0001733 \| Pancreatic inflammation HP:0000823 \| Pubertal delay
Text Mined Phenotype	(Waiting for update.)

Disease ID	360
Disease	glycogen storage disease ia
Manually Symptom	UMLS \| Name(Total Manually Symptoms:2) C2697453 \| hepatic adenoma C0004153 \| atherosclerosis
Text Mined Symptom	(Waiting for update.)

Manually Genotype(Total Text Mining 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)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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