DNA repair disease | Kisho | Kisho

DNA repair disease

Rare Disease

MONDO:0021190

Also known as:

DNA repair disorderdeficiency of DNA repairdisorder of DNA repair

A disease that has its basis in the disruption of DNA repair.

Genes

Clinical Trials

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Newborn Screening

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Patient Groups

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Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Feb 7, 2026

Associated Genes

7 genes

NBN FAN1 DCLRE1C RAD50 MRE11 APTX PCNA

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

7 genes

NBN FAN1 DCLRE1C RAD50 MRE11 APTX PCNA

Gene data from HGNC • Click to view on NCBI Gene

Overview

DNA repair disease is a condition based on the disruption of DNA repair mechanisms. DNA repair is a natural process in cells that fixes damage in the DNA, and when this process is disrupted, it can affect how cells function. Because this disease stems from an issue with DNA repair, it highlights the importance of these cellular processes in maintaining overall health. Further research may provide more insights into how these disruptions lead to the condition and what impact they have on those affected.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Information about causes is currently limited for this condition.

Treatment & Management

Information about treatment is currently limited for this condition.

Prognosis & Outlook

Information about prognosis is currently limited for this condition.

Research & Clinical Trials

Information about research is currently limited for this condition.

Quick Resources

Helpful links for rare disease information and support

GARD (Genetic and Rare Diseases Information Center)NORD (National Organization for Rare Disorders)Find a Genetic Counselor

General Questions to Consider

Questions that may be helpful when speaking with your healthcare team

•Are there specialists or centers of excellence with experience in this condition?
•Is there a patient registry I could participate in?
•Should my family members consider genetic testing?
•What clinical trials might be available for this condition?
•Are there patient advocacy groups I should connect with?

Clinical

Associated Genes

7 genes

NBN FAN1 DCLRE1C RAD50 MRE11 APTX PCNA

Gene data from HGNC • Click to view on NCBI Gene

Treatment

Support

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AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.

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DNA repair disease

Patient-Friendly Information

Associated Genes

Associated Genes

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Treatment

Support

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?