DISEASES

Disease-gene associations mined from literature

Human genes for renal hypomagnesemia 5 with ocular involvement

Renal hypomagnesemia 5 with ocular involvement [DOID:0060881]

A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2.

Synonyms:  renal hypomagnesemia 5 with ocular involvement,  DOID:0060881,  bilateral macular coloboma with hypercalciuria,  familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement,  FHHNC with severe ocular involvement ...