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dilated cardiomyopathy 1II - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

dilated cardiomyopathy 1II

MONDO:0014073

Also known as:CMD1IICRYAB familial isolated dilated cardiomyopathycardiomyopathy, dilated, type 1II

Overview

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

GeneticsAutosomal dominant · CRYAB (chr 11)

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: Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Mitral regurgitation, Increased left ventricular end-diastolic volume, and Moderately reduced left ventricular ejection fraction and others. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Mitral regurgitation, Increased left ventricular end-diastolic volume, Moderately reduced left ventricular ejection fraction

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.

CRYAB encodes crystallin alpha B (175 aa). May contribute to the transparency and refractive index of the lens. Has chaperone-like activity, preventing aggregation of various proteins under a wide range of stress conditions. Highest expression in Heart Left Ventricle (1,863 TPM) and Brain Spinal cord cervical c-1 (1,663 TPM).

Dilated cardiomyopathy 1II is associated with mutations in the CRYAB gene on chromosome 11.

CRYAB is classified as a druggable target (Cell Surface category) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 6 always present features.

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 8:43 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615184

GARD

Genetic and Rare Diseases Info Center

GARD:15916

Questions for Your Care Team

→Should I pursue genetic testing for CRYAB, 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 1II

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

Questions for Your Care Team

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