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GTR Home > Conditions/Phenotypes > Primary hypomagnesemia

Primary hypomagnesemia

Synonyms
HYPOMAGNESEMIA 3, RENAL; HYPOMAGNESEMIA, PRIMARY, DUE TO DEFECT IN RENAL TUBULAR TRANSPORT OF MAGNESIUM; Hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis; Hypomagnesemia, isolated renal; Magnesium, defect in renal tubular transport of
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014). [from OMIM]

Available tests

44 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

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Clinical features

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Imported from Human Phenotype Ontology (HPO)

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