DISEASES

Disease-gene associations mined from literature

Human genes for renal hypomagnesemia 3

Renal hypomagnesemia 3 [DOID:0060880]

A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28.

Synonyms:  renal hypomagnesemia 3,  DOID:0060880,  familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement,  FHHNC without severe ocular involvement,  HOMG3 ...