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Renal hypomagnesemia 5 with ocular involvement
rareFamilial primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement (FHHNCOI) is a form of familial primary hypomagnesemia (FPH), characterized by excessive magnesium and calcium renal wasting, bilateral nephrocalcinosis, progressive renal failure and severe ocular abnormalities.
- Identifiers
- MONDO:0009548 OMIM:248190Orphanet:2196
- Causal genes
- CLDN19
- Part of
- Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosisHereditary macular dystrophy
- Also known as
- FHHNC with severe ocular involvement · FHHNCOI · HOMG5 · hypercalciuria-bilateral macular coloboma syndrome · hypomagnesemia 5, renal, with ocular involvement
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