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dilated cardiomyopathy 1M (CMD1M) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1M

MONDO:0011840

Also known as:CMD1MCSRP3 familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1M

Overview

Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CSRP3 gene.

GeneticsAutosomal dominant · CSRP3 (chr 11)

ResearchLimited published research (6 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: Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, and Enlarged and weakened heart (dilated cardiomyopathy); and very common findings: Congestive heart failure. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	6	Endocardial fibroelastosis, Impaired myocardial contractility, Congestive heart failure

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.

CSRP3 encodes cysteine and glycine rich protein 3 (194 aa). Positive regulator of myogenesis. Acts as a cofactor for myogenic bHLH transcription factors such as MYOD1, and probably MYOG and MYF6. Highest expression in Heart Left Ventricle (750.4 TPM) and Heart Atrial Appendage (603.9 TPM).

Dilated cardiomyopathy 1M has limited evidence linking it to mutations in the CSRP3 gene on chromosome 11.

CSRP3 is classified as a druggable target (Transcription Factor category) with score 0.0.

Diagnosis

Genetic testing for CSRP3 is available. Testing is considered research-grade for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 1 very common feature.

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 dilated cardiomyopathy 1M.

6 publications have been identified in PubMed for dilated cardiomyopathy 1M. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

Zhao HZ (2026). [PMID: 41688182](https://pubmed.ncbi.nlm.nih.gov/41688182/). *Zhonghua xin xue guan bing za zhi*. [Case Report / Case Series]
Vitale R (2025). [PMID: 41096706](https://pubmed.ncbi.nlm.nih.gov/41096706/). *International journal of molecular sciences*. [Basic Science / Preclinical]
Shen J (2025). [PMID: 40948388](https://pubmed.ncbi.nlm.nih.gov/40948388/). *Advanced science (Weinheim, Baden-Wurttemberg, Germany)*. [Basic Science / Preclinical]
Bergan N (2025). [PMID: 39895490](https://pubmed.ncbi.nlm.nih.gov/39895490/). *Circulation*. [Review / Meta-Analysis]
Łuczak-Woźniak K (2024). [PMID: 39256506](https://pubmed.ncbi.nlm.nih.gov/39256506/). *Scientific reports*. [Clinical Trial Publication]

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 7:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:607482

GARD

Genetic and Rare Diseases Info Center

GARD:15413

Questions for Your Care Team

→Should I pursue genetic testing for CSRP3, 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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dilated cardiomyopathy 1M

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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