renal hypomagnesemia 3
Findings
No curated finding names renal hypomagnesemia 3 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 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.
Definition from the Mondo Disease Ontology (MONDO:0009550), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
50 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.
- Bowing of the legsHPOHP:0002979
- 1 of 1 reported patient
- Decreased circulating calcitriol concentrationHPOHP:0012052
- 1 of 1 reported patient
- Elevated circulating beta-CTX concentrationHPOHP:0031425
- 2 of 2 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 6 of 6 reported patients
- Genu valgumHPOHP:0002857
- 1 of 1 reported patient
- HypercitraturiaHPOHP:0012406
- 9 of 9 reported patients
- HyperuricemiaHPO
Show the remaining 38
- Renal insufficiencyHPOHP:0000083
- 32 of 32 reported patients
- Renal magnesium wastingHPOHP:0005567
- 41 of 41 reported patients
- Short metacarpalHPOHP:0010049
- 1 of 1 reported patient
- HypomagnesemiaHPOHP:0002917
- 33 of 34 reported patients
- HypermagnesiuriaHPOHP:0012608
- 43 of 45 reported patients
- HypercalciuriaHPOHP:0002150
- 54 of 58 reported patients
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.
- CLDN16HGNC:2037
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
7 names
Resolves to: renal hypomagnesemia 3
- Also called
- CLDN16 familial primary hypomagnesemiaCLDN16 primary hypomagnesemiafamilial primary hypomagnesemia caused by mutation in CLDN16FHHNC without severe ocular involvementHOMG3primary hypomagnesemia caused by mutation in CLDN16renal hypomagnesemia type 3