Details of Disease | DrugMAP

General Information of Disease (ID: DISHL9R0)

Disease Name	Galactosemia 4
Synonyms	GALM mutarotase deficiency; GALACTOSEMIA IV; galactosemia iv; Galactose Mutarotase Deficiency; GALAC4
Disease Hierarchy	DIS6V2Q3: Galactosemia DISDS4G7: Disorder of galactose and fructose metabolism DISHL9R0: Galactosemia 4
Disease Identifiers	MONDO ID MONDO_0030105 UMLS CUI C5394377 OMIM ID 618881 MedGen ID 1718159 Orphanet ID 570422 SNOMED CT ID 1187616008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GALM	DE63NYG	Strong	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
GALM	OT7UPL4D	Strong	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.