familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Findings
No curated finding names familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial 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).
Definition from the Mondo Disease Ontology (MONDO:0017624), read 2026-09-29. CC BY 4.0.
Where it sits
- A kind of
- Narrower terms (2)
Other names
2 names
Resolves to: familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis
- Also called
- FHHNCMichellis-Castrillo syndrome