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GTR Home > Conditions/Phenotypes > Hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Summary

Renal hypomagnesemia-7 with or without dilated cardiomyopathy (HOMG7) is characterized primarily by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia. Many patients develop nephrocalcinosis, although renal function is generally well-preserved. The age at onset is highly variable, ranging from infancy to young adulthood. A subset of patients develop severe dilated cardiomyopathy as early as in infancy, which may require heart transplant (Schlingmann et al., 2021). For a discussion of genetic heterogeneity of hypomagnesemia, see 602014. [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: HOMG7, RAGD, bA11D8.2.1, RRAGD
    Summary: Ras related GTP binding D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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