Details of Disease | DrugMAP

General Information of Disease (ID: DISA9APD)

Disease Name	Glycogen storage disease type 1 due to SLC37A4 mutation
Synonyms	G6P translocase deficiency; glycogen storage disease I caused by mutation in SLC37A4; glucose-6-phosphate translocase deficiency; SLC37A4 glycogen storage disease I
Definition	Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.\|This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i
Disease Hierarchy	DISY4Q9T: Glycogen storage disease I DISA9APD: Glycogen storage disease type 1 due to SLC37A4 mutation
Disease Identifiers	MONDO ID MONDO_0023258 MESH ID C536831 UMLS CUI C2931345 MedGen ID 419390

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC37A4	DTLHZFU	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLC37A4	OTLCYA32	Definitive	Autosomal recessive	[1]
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References

1	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.