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structural heart defects and renal anomalies syndrome (SHDRA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

structural heart defects and renal anomalies syndrome

MONDO:0044321

Also known as:SHDRA

Overview

GeneticsAutosomal recessive · TMEM260 (chr 14)

OnsetNEONATAL, INFANTILE

ResearchLimited published research (4 articles)

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: Systolic heart murmur, Ventricular septal defect, and Elevated creatinine (kidney function marker) (elevated circulating creatinine concentration); and common findings: Truncus arteriosus, Generalized edema, Partial agenesis of the corpus callosum, and Cyanosis. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Interrupted aortic arch, Systolic heart murmur, Ventricular septal defect

Genetic Landscape

TMEM260 function has not been fully characterized.

Structural heart defects and renal anomalies syndrome is associated with mutations in the TMEM260 gene on chromosome 14.

Diagnosis

Genetic testing for TMEM260 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 4 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 structural heart defects and renal anomalies syndrome.

4 publications have been identified in PubMed for structural heart defects and renal anomalies syndrome. Research spans Basic Science / Preclinical (75%) and Case Report / Case Series (25%).

Recent Publications

Yan L (2025). [PMID: 40555660](https://pubmed.ncbi.nlm.nih.gov/40555660/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]
Enomoto Y (2025). [PMID: 41378241](https://pubmed.ncbi.nlm.nih.gov/41378241/). *Mol Syndromol*. [Basic Science / Preclinical]
Yaoita H (2024). [PMID: 38351237](https://pubmed.ncbi.nlm.nih.gov/38351237/). *J Hum Genet*. [Basic Science / Preclinical]
Inoue T (2024). [PMID: 38409496](https://pubmed.ncbi.nlm.nih.gov/38409496/). *J Hum Genet*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:33 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617478

Orphanet

European rare disease database

Orphanet:689822

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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structural heart defects and renal anomalies syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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