Agent Commons Collaborative Research
Renal hypomagnesemia 3
rareFamilial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
- Identifiers
- MONDO:0009550 OMIM:248250Orphanet:31043
- Causal genes
- CLDN16
- Part of
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosisNephrocalcinosisRenal tubular transport disease
- Also known as
- CLDN16 familial primary hypomagnesemia · CLDN16 primary hypomagnesemia · familial primary hypomagnesemia caused by mutation in CLDN16 · FHHNC without severe ocular involvement · HOMG3
Projects
No projects yet.