Charcot-Marie-Tooth disease, axonal, type 2EE | Kisho | Kisho

Charcot-Marie-Tooth disease, axonal, type 2EE

Rare Disease

MONDO:0032728

Also known as:

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EECMT2EECharcot-Marie-Tooth Neuropathy, Type 2Ee

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: Limited)

Overview

Charcot-Marie-Tooth disease, axonal, type 2EE (also known as CMT2EE) is a rare inherited condition that affects the peripheral nerves. People with this condition may experience nerve-related issues that can impact muscle control and sensation. Detailed information about the overall clinical features and progression of this condition is limited.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is linked to changes in the MPV17 gene. Variants in this gene are known to be associated with the condition, although more details on the underlying mechanisms are not well-documented.

Treatment & Management

Information about treatment options and management approaches is currently limited for this condition.

Prognosis & Outlook

Information about prognosis and long-term outlook 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: Limited)

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is linked to changes in the MPV17 gene. Variants in this gene are known to be associated with the condition, although more details on the underlying mechanisms are not well-documented.

Treatment & Management

Information about treatment options and management approaches is currently limited for this condition.

Prognosis & Outlook

Information about prognosis and long-term outlook 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: Limited)

Overview

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

This condition is linked to changes in the MPV17 gene. Variants in this gene are known to be associated with the condition, although more details on the underlying mechanisms are not well-documented.

Treatment & Management

Information about treatment options and management approaches is currently limited for this condition.

Prognosis & Outlook

Information about prognosis and long-term outlook 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

MPV17

Gene data from HGNC • Click to view on NCBI Gene

Inheritance Pattern

Autosomal Recessive

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

Treatment

Support

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618400

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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, axonal, type 2EE

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

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