Details of Disease

General Information of Disease (ID: DISZSMKQ)

Disease Name	Glycogen storage disease type IA
Synonyms	glucose-6-phosphatase deficiency; GSD1A; glycogen storage disease 1A; glucose-6-phosphatase deficiency glycogen storage disease; GSD Ia; Von Gierke disease; glycogen storage disease 1; hepatorenal glycogenosis; glycogen storage disease Ia; GSD1; hepatorenal form of glycogen storage disease; glycogenosis due to glucose-6-phosphatase deficiency type Ia; GSDIa; glycogen storage disease caused by mutation in G6PC; GSD type 1a; glycogenosis type Ia; glycogen storage disease type 1a; GSD due to G6P deficiency type Ia; GSD due to G6P deficiency type 1a; G6P deficiency type 1a; glycogenosis due to glucose-6-phosphatase deficiency type 1a; glycogen storage disease type Ia; glycogen storage disease due to G6P deficiency type Ia; G6PC glycogen storage disease
Disease Class	5C51: Inborn carbohydrate metabolism error
Definition	Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency.
Disease Hierarchy	DISY4Q9T: Glycogen storage disease I DISYGNOB: Disorder of glycogen metabolism DISZSMKQ: Glycogen storage disease type IA
ICD Code	ICD-11 ICD-11: 5C51.3
Disease Identifiers	MONDO ID MONDO_0009287 MESH ID C538655 UMLS CUI C2919796 OMIM ID 232200 MedGen ID 415885 Orphanet ID 79258 SNOMED CT ID 444707001

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
mRNA-3745	DM7I2AC	Phase 1	mRNA therapy	[1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
G6PC	TTBQMJ8	Limited	Biomarker	[2]
SLC37A4	TT1KPBZ	Strong	Biomarker	[3]
G6PC1	TTL5KSF	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
G6PC3	DEE1B8O	Strong	Altered Expression	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
G6PC1	OTJ6FM9F	Definitive	Autosomal recessive	[4]
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References

1	ClinicalTrials.gov (NCT05095727) A Phase 1/2, Adaptive, Open-label, Single Ascending Dose to Multiple Ascending Dose Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of mRNA-3745 in Participants With Glycogen Storage Disease Type 1a (GSD1a), Followed by an Open-label Extension. U.S.National Institutes of Health.
2	Activation of tumor-promoting pathways implicated in hepatocellular adenoma/carcinoma, a long-term complication of glycogen storage disease type Ia.Biochem Biophys Res Commun. 2020 Jan 29;522(1):1-7. doi: 10.1016/j.bbrc.2019.11.061. Epub 2019 Nov 15.
3	Type I glycogen storage diseases: disorders of the glucose-6-phosphatase/glucose-6-phosphate transporter complexes.J Inherit Metab Dis. 2015 May;38(3):511-9. doi: 10.1007/s10545-014-9772-x. Epub 2014 Oct 7.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.