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hypomagnesemia 7, renal, with or without dilated cardiomyopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomagnesemia 7, renal, with or without dilated cardiomyopathy

MONDO:0859328

Overview

GeneticsAutosomal dominant · RRAGD (chr 6)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hypomagnesemia; and very common findings: Reduced left ventricular ejection fraction and Elevated left ventricular end-diastolic diameter. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	3	Reduced left ventricular ejection fraction, Elevated left ventricular end-diastolic diameter, Enlarged and weakened heart (dilated cardiomyopathy)

Genetic Landscape

RRAGD function has not been fully characterized.

Hypomagnesemia 7, renal, with or without dilated cardiomyopathy is associated with mutations in the RRAGD gene on chromosome 6.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for RRAGD is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypomagnesemia 7, renal, with or without dilated cardiomyopathy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 2 very common features, 8 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hypomagnesemia 7, renal, with or without dilated cardiomyopathy.

204 publications have been identified in PubMed for hypomagnesemia 7, renal, with or without dilated cardiomyopathy. Research spans Basic Science / Preclinical (34%), Review / Meta-Analysis (21%), and Epidemiology / Natural History (15%).

Research Type	Count	% of Total
Laboratory research	59	34%

Data assembled from 5 of 12 sources · Last updated Sep 21, 2026, 6:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620152

Questions for Your Care Team

→Should I pursue genetic testing for RRAGD, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypomagnesemia 7, renal, with or without dilated cardiomyopathy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications