AARS1-related leukoencephalopathy | Kisho | Kisho

AARS1-related leukoencephalopathy

Rare Disease

MONDO:1010132

Any leukoencephalopathy in which the cause of the disease is a variant in the AARS1 gene.

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

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Feb 7, 2026

Associated Genes

1 gene

AARS1

Gene data from HGNC • Click to view on NCBI Gene

Associated Genes

1 gene

AARS1

Gene data from HGNC • Click to view on NCBI Gene

Overview

AARS1-related leukoencephalopathy is a disorder that affects the white matter of the brain. It is defined as any leukoencephalopathy where the cause is a variant in the AARS1 gene. This gene is essential for proper cell function as it plays a role in protein production. The ongoing study of this condition is improving our understanding of how changes in the white matter impact neurological function.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is caused by a genetic change in the AARS1 gene. Variants in this gene may affect protein production in cells, which can lead to the changes seen in the white matter of the brain.

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

1 gene

AARS1

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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AARS1-related leukoencephalopathy

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?