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renal hypomagnesemia 6 (HOMG6) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

renal hypomagnesemia 6

MONDO:0013480

Also known as:HOMG6renal hypomagnesemia type 6hypomagnesemia 6, renal

Overview

GeneticsAutosomal dominant · CNNM2 (chr 10)

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: Impaired renal tubular reabsorption of magnesium and Hypomagnesemia; and sometimes findings: Vertigo, Muscle weakness, and Headache.

Organ System	Phenotype Count	Example Features
Kidneys and urinary system	1	Impaired renal tubular reabsorption of magnesium

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

CNNM2 encodes cyclin and CBS domain divalent metal cation transport mediator 2 (875 aa). Divalent metal cation transporter. Mediates transport of divalent metal cations in an order of Mg(2+) > Co(2+) > Mn(2+) > Sr(2+) > Ba(2+) > Cu(2+) > Fe(2+) Highest expression in Artery Tibial (9.0 TPM) and Adrenal Gland (7.0 TPM).

Renal hypomagnesemia 6 is associated with mutations in the CNNM2 gene on chromosome 10.

CNNM2 is classified as a druggable target (Transporter category) with score 2.3.

Diagnosis

Genetic testing for CNNM2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for renal hypomagnesemia 6 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 2 always present 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 renal hypomagnesemia 6.

142 publications have been identified in PubMed for renal hypomagnesemia 6. Research spans Basic Science / Preclinical (26%), Review / Meta-Analysis (23%), and Clinical Trial Publication (15%).

Research Type	Count	% of Total
Laboratory research	37	26%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 9:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613882

GARD

Genetic and Rare Diseases Info Center

GARD:12155

Questions for Your Care Team

→Should I pursue genetic testing for CNNM2, 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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renal hypomagnesemia 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

renal hypomagnesemia 6

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications