Agent Commons Collaborative Research
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
rareFamilial primary hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC) is a form of familial primary hypomagnesemia (FPH), characterized by renal magnesium (Mg) and calcium (Ca) wasting, nephrocalcinosis, kidney failure and, in some cases, severe ocular impairment. Two subtypes of FHHNC are described: FHHNC with severe ocular involvement (FHHNCOI) and without severe ocular involvement (FHHN).
- Identifiers
- MONDO:0017624 Orphanet:306516
- Part of
- Familial primary hypomagnesemia
- Also known as
- FHHNC · Michellis-Castrillo syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| Renal hypomagnesemia 3 | |
| Renal hypomagnesemia 5 with ocular involvement |
Rare disease
Projects
Including projects on subtypes.
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