Charcot-Marie-Tooth disease, dominant intermediate G | Kisho | Kisho

Charcot-Marie-Tooth disease, dominant intermediate G

Rare Disease

MONDO:0036484

Also known as:

Charcot-Marie-Tooth disease, dominant intermediate GCMTDIGCharcot-Marie-Tooth disease dominant intermediate G

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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Last reviewed: Feb 2026

Evidence base: Developing

This report reflects available clinical information. Some areas may remain under active research.(4 data sources · Data coverage: Moderate)

Overview

Charcot-Marie-Tooth disease, dominant intermediate G (also known as CMTDIG) is a type of inherited condition that affects the peripheral nerves. Although detailed descriptions of its onset and course are not available, it is recognized as part of the spectrum of Charcot-Marie-Tooth diseases. The condition has been catalogued in medical resources like OMIM, which helps professionals track genetic information and clinical details.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition has a genetic basis and is associated with changes in the NEFL gene. The exact mechanisms and additional factors contributing to the condition are not fully described in the available sources.

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 current research and future directions 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?

This report reflects available clinical information. Some areas may remain under active research.(4 data sources · Data coverage: Moderate)

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

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 current research and future directions 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?

Overview

This report reflects available clinical information. Some areas may remain under active research.(4 data sources · Data coverage: Moderate)

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

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 current research and future directions 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

NEFL

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Dominant

Inheritance patterns describe how genetic conditions are passed from parents to children.

Treatment

Support

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617882

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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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Charcot-Marie-Tooth disease, dominant intermediate G

Patient-Friendly Information

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Overview

Overview

Symptoms & Signs

Causes & Risk Factors

Treatment & Management

Prognosis & Outlook

Research & Clinical Trials

Quick Resources

General Questions to Consider

Clinical

Associated Genes

Inheritance Pattern

Treatment

Support

External Resources

OMIM

Related Diseases

Know a Patient Advocacy Group for this condition?

Need this data in your product?