hypomagnesemia 7, renal, with or without dilated cardiomyopathy
MONDO:0859328Mondo
Findings
No curated finding names hypomagnesemia 7, renal, with or without dilated cardiomyopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset · Early young adult onset
HPO, annotations 2026-09-02
Features
12 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
- 9 of 9 reported patients
- Elevated left ventricular end-diastolic diameterHPOHP:0034307
- 5 of 6 reported patients
- Reduced left ventricular ejection fractionHPOHP:0012664
- 5 of 6 reported patients
- Dilated cardiomyopathyHPOHP:0001644
- 6 of 9 reported patients
- NephrocalcinosisHPOHP:0000121
- 6 of 9 reported patients
- PolyuriaHPOHP:0000103
- 5 of 9 reported patients
- Metabolic acidosisHPOHP:0001942
- 4 of 8 reported patients
- HypocalcemiaHPOHP:0002901
- 4 of 9 reported patients
- HypokalemiaHPOHP:0002900
- 4 of 9 reported patients
- HyponatremiaHPOHP:0002902
- 4 of 9 reported patients
- TetanyHPOHP:0001281
- 3 of 8 reported patients
- SeizureHPOHP:0001250
- 2 of 8 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.
- RRAGDHGNC:19903
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2022
Where it sits
- A kind of