renal hypomagnesemia 2
Findings
No curated finding names renal hypomagnesemia 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Definition from the Mondo Disease Ontology (MONDO:0007937), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
4 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.
- HypomagnesemiaHPOHP:0002917
- 6 of 6 reported patients
- Renal magnesium wastingHPOHP:0005567
- 4 of 4 reported patients
- HypocalciuriaHPOHP:0003127
- 2 of 4 reported patients
- HypokalemiaHPOHP:0002900
- 2 of 6 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.
- FXYD2HGNC:4026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Moderate · ClinGen · Autosomal dominant · 2025
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
8 names
Resolves to: renal hypomagnesemia 2
- Also called
- familial primary hypomagnesemia caused by mutation in FXYD2FXYD2 familial primary hypomagnesemiaFXYD2 primary hypomagnesemiaHOMG2isolated autosomal dominant hypomagnesemiaisolated renal magnesium wastingprimary hypomagnesemia caused by mutation in FXYD2renal hypomagnesemia type 2