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tubular renal disease-cardiomyopathy syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

tubular renal disease-cardiomyopathy syndrome

MONDO:0019130

Overview

A syndrome characterized by hypokalaemic metabolic alkalosis secondary to a tubulopathy, hypomagnesaemia with hypermagnesuria, severe hypercalciuria and dilated cardiomyopathy.

ResearchLimited published research (1 article)

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 very common findings: Enlarged and weakened heart (dilated cardiomyopathy), Hypokalemic metabolic alkalosis, Hypercalciuria, and Hypocalcemia and others; and common findings: Nephrocalcinosis, Increased circulating aldosterone concentration, Congestive heart failure, and Sudden cardiac death and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	4

Prognosis

Phenotype severity distribution: 6 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 tubular renal disease-cardiomyopathy syndrome.

1 publication has been identified in PubMed for tubular renal disease-cardiomyopathy syndrome. Research spans Epidemiology / Natural History (100%).

Recent Publications

Yutsudo A (2025). [PMID: 40993081](https://pubmed.ncbi.nlm.nih.gov/40993081/). *J Vet Med Sci*. [Epidemiology / Natural History]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 11:51 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:73224

GARD

Genetic and Rare Diseases Info Center

GARD:18920

Questions for Your Care Team

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Kisho

tubular renal disease-cardiomyopathy syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Central Sleep Apnea in Renal and Endocrine Disease.

tubular renal disease-cardiomyopathy syndrome

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Central Sleep Apnea in Renal and Endocrine Disease.