Details of Disease

General Information of Disease (ID: DISQZQ94)

Disease Name Renal hypomagnesemia 6
Synonyms renal hypomagnesemia-6; hypomagnesemia 6, renal; HOMG6; renal hypomagnesemia type 6
Disease Hierarchy
DISZNFLZ: Familial primary hypomagnesemia with normocalciuria and normocalcemia
DISQZQ94: Renal hypomagnesemia 6
Disease Identifiers
MONDO ID
MONDO_0013480
UMLS CUI
C3151295
OMIM ID
613882
MedGen ID
462645

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CNNM2 OTZHO8WU Strong Autosomal dominant [1]
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References

1 CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet. 2011 Mar 11;88(3):333-43. doi: 10.1016/j.ajhg.2011.02.005.