Charcot-Marie-Tooth disease, demyelinating, IIA 1H | Kisho | Kisho

Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Rare Disease

MONDO:0030689

Also known as:

CMT1HCharcot-Marie-Tooth disease, demyelinating, IIA 1HCharcot-Marie-Tooth neuropathy, IIA 1H

Genes

Clinical Trials

–

Newborn Screening

–

Patient Groups

–

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

How we create this content →

Last reviewed: Feb 2026

Evidence base: Developing

Associated Genes

1 gene

FBLN5

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.

Associated Genes

1 gene

FBLN5

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.

Overview

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

Overview

Information about overview is currently limited for this condition.

Symptoms & Signs

Information about symptoms is currently limited for this condition.

Causes & Risk Factors

Genetic factors appear to play a role in Charcot-Marie-Tooth disease, demyelinating, IIA 1H. Available evidence notes a link with the FBLN5 gene. More detailed information about other causes and risk factors is currently limited.

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

FBLN5

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:619764

Know a Patient Advocacy Group for this condition?

Help patients and families find support by registering your organization or suggesting a group that serves this community.

Was this helpful?

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

Need this data in your product?

Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.

Explore API Start Free

← Back to All Diseases

Charcot-Marie-Tooth disease, demyelinating, IIA 1H

Patient-Friendly Information

Associated Genes

Inheritance Pattern

Associated Genes

Inheritance Pattern

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?