Details of Disease | DrugMAP

General Information of Disease (ID: DISQGH7M)

Disease Name	Renal hypomagnesemia 4
Synonyms	hypomagnesemia, renal, Normocalciuric; hypomagnesemia 4, renal; EGF primary hypomagnesemia; primary hypomagnesemia caused by mutation in EGF; EGF familial primary hypomagnesemia; familial primary hypomagnesemia caused by mutation in EGF; HOMG4; renal hypomagnesemia type 4
Definition	Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene.
Disease Hierarchy	DIS6TTKI: Familial primary hypomagnesemia DISZNFLZ: Familial primary hypomagnesemia with normocalciuria and normocalcemia DISQGH7M: Renal hypomagnesemia 4
Disease Identifiers	MONDO ID MONDO_0012717 MESH ID C567127 UMLS CUI C2673648 OMIM ID 611718 MedGen ID 388692

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EGF	TTED8JB	Limited	Autosomal dominant	[1]
EGF	TTED8JB	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EGF	OTANRJ0L	Limited	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest. 2007 Aug;117(8):2260-7. doi: 10.1172/JCI31680.