renal hypomagnesemia 3

Term ID

DOID:0060880

Synonyms

• familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
• FHHNC without severe ocular involvement
• HOMG3
• isolated renal hypomagnesemia
• primary hypomagnesemia due to defect in renal tubular transport of magnesium
• renal hypomagnesemia type 3

Definition

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. (2)

References

• ICD10CM:E83.4
• OMIM:248250
• ORDO:31043

Ontology

Human Disease   ( DOID:0060880 )