renal hypomagnesemia 5 with ocular involvement
Findings
No curated finding names renal hypomagnesemia 5 with ocular involvement 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 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.
Definition from the Mondo Disease Ontology (MONDO:0009548), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
20 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- HypercalciuriaHPOHP:0002150
- 12 of 12 reported patients
- HypermagnesiuriaHPOHP:0012608
- 12 of 12 reported patients
- HypomagnesemiaHPOHP:0002917
- 12 of 12 reported patients
- NephrocalcinosisHPOHP:0000121
- 12 of 12 reported patients
- NystagmusHPOHP:0000639
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Renal magnesium wastingHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CLDN19HGNC:2040
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: renal hypomagnesemia 5 with ocular involvement
- Also called
- FHHNC with severe ocular involvementFHHNCOIhypercalciuria-bilateral macular coloboma syndromeMeier-Blumberg-Imahorn syndrome