How is Charcot-Marie-Tooth disease, axonal, type 2EE inherited?

Charcot-Marie-Tooth disease, axonal, type 2EE follows an autosomal recessive inheritance pattern. This means a child must inherit a copy of the altered gene from both parents to develop the condition. Parents who each carry one copy typically do not show symptoms.

How is Charcot-Marie-Tooth disease, axonal, type 2EE diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Charcot-Marie-Tooth disease, axonal, type 2EE?

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

What are the potential complications of Charcot-Marie-Tooth disease, axonal, type 2EE?

Information about complications specific to Charcot-Marie-Tooth disease, axonal, type 2EE is currently limited. However, since this condition affects the peripheral nerves, it may lead to issues with muscle control and sensation over time. It's important to monitor any changes in symptoms and discuss them with a healthcare provider.

How might Charcot-Marie-Tooth disease, axonal, type 2EE affect daily life?

Charcot-Marie-Tooth disease, axonal, type 2EE can impact daily life by causing difficulties with movement and feeling in the limbs. This may make activities like walking or holding objects more challenging. Support from family, friends, and healthcare professionals can help manage these daily challenges.

What is the long-term outlook for someone with Charcot-Marie-Tooth disease, axonal, type 2EE?

The long-term outlook for Charcot-Marie-Tooth disease, axonal, type 2EE is currently not well-documented. Since detailed information about the progression of this condition is limited, it’s essential to stay in touch with healthcare providers for ongoing assessments and support.

Are there any specific specialists I should see for Charcot-Marie-Tooth disease, axonal, type 2EE?

While specific recommendations for specialists are not detailed, it is generally helpful to see a neurologist for Charcot-Marie-Tooth disease, axonal, type 2EE. They can provide guidance on managing symptoms and monitoring the condition. Other specialists, such as physical therapists, may also be beneficial in improving mobility and strength.

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Charcot-Marie-Tooth disease, axonal, type 2EE - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

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

MONDO:0032728

Also known as:CMT2EECharcot-Marie-Tooth Neuropathy, Type 2Ee

Overview

GeneticsAutosomal recessive · MPV17 (chr 2)

OnsetADULT

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Peripheral axonal neuropathy; and common findings: Hepatic steatosis. 17 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	3	Peripheral axonal neuropathy, Hyporeflexia, Difficulty walking (gait disturbance)

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

MPV17 encodes mitochondrial inner membrane protein MPV17 (176 aa). Non-selective channel that modulates the membrane potential under normal conditions and oxidative stress, and is involved in mitochondrial homeostasis. Highest expression in Cells Cultured fibroblasts (57.1 TPM) and Adrenal Gland (48.8 TPM).

Charcot-Marie-Tooth disease, axonal, type 2EE is associated with mutations in the MPV17 gene on chromosome 2.

MPV17 is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

MPV17-related mitochondrial DNA (mtDNA) maintenance defect should be suspected in individuals with the following clinical features, brain MRI findings, and supportive laboratory findings.

Clinical features

Hepatic
Liver dysfunction or failure

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for Charcot-Marie-Tooth disease, axonal, type 2EE. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with MPV17-related mtDNA maintenance defect, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with MPV17-Related mtDNA Maintenance Defect

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

No clinical guidelines for surveillance are available. The following evaluations are suggested, with frequency varying according to the severity of the condition:

Table 7.

Recommended Surveillance for Individuals with MPV17-Related mtDNA Maintenance Defect

System/Concern | Evaluation | Frequency

Gastrointestinal

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 10:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618400

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Charcot-Marie-Tooth disease, axonal, type 2EE

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.

Information about symptoms is currently limited for this condition.

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. Associated genes include MPV17.

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GeneReviews

Clinical Guidance

MPV17-related mtDNA maintenance defect has been reported in 100 individuals [, , , , , , , , , , , , , , , , , , , , , , , , , ]. The vast majority of affected individuals (96/100) presented with an early-onset encephalohepatopathic (hepatocerebral) disease affecting mainly the nervous system and liver; mtDNA depletion is typically identified, particularly in liver. A later-onset neuromyopathic disease characterized by myopathy and neuropathy and associated with multiple mtDNA deletions in muscles has also rarely been described (4/100 affected individuals) . MPV17-related mtDNA maintenance defect, encephalohepatopathy form is typically an early-onset disease that presents during the neonatal period (36 out of 96; 38%) or infancy (56 out of 96; 58%). Childhood onset (2-18 years) has been reported on rare occasions (4 out of 96; 4%) . Clinical manifestations include hepatic and neurologic findings summarized in . Table 2. Clinical Manifestations of MPV17-Related Encephalohepatopathy Clinical Manifestations | Frequency Hepatic

Liver dysfunction1	96/96 (100%)
Neurologic4	Developmental delay5
on brain MRI	White matter7
Gastrointestinal	Failure to thrive8
Metabolic	Lactic acidosis10
Other	Renal tubulopathy

Source: GeneReviews — "MPV17-Related Mitochondrial DNA Maintenance Defect"

System/Concern	Evaluation	Comment
Gastrointestinal (liver)	Liver function tests	Liver transaminases (ALT AST), GGT, albumin, total direct bilirubin, coagulation profile (PT PTT) Liver ultrasound
Neurologic	Consultation w/neurologist	Developmental eval
Metabolic	Plasma glucose lactate concentrations	To assess lactic acidosis hypoglycemia
Renal	Urinalysis urine amino acids	To assess for renal tubulopathy
Ocular	Ophthalmologic exam	To assess corneal sensation possible corneal ulcers/scarring
Other	Consultation w/clinical geneticist /or genetic counselor	CNS = central nervous system Management should involve a multidisciplinary team including specialists in hepatology, neurology, nutrition, clinical genetics, and child development. Table 6. Treatment of Manifestations in Individuals with MPV17-Related mtDNA Maintenance Defect Manifestation/Concern

Kisho

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

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Differential Diagnosis

MPV17

DGUOK

Clinical Guidance

Clinical Trials

Neurologic

Metabolic

Renal

Ocular

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

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Charcot-Marie-Tooth disease, axonal, type 2EE?

What are the symptoms of Charcot-Marie-Tooth disease, axonal, type 2EE?

What causes Charcot-Marie-Tooth disease, axonal, type 2EE?

How is Charcot-Marie-Tooth disease, axonal, type 2EE inherited?

How is Charcot-Marie-Tooth disease, axonal, type 2EE diagnosed?

Are there treatments for Charcot-Marie-Tooth disease, axonal, type 2EE?

What are the potential complications of Charcot-Marie-Tooth disease, axonal, type 2EE?

How might Charcot-Marie-Tooth disease, axonal, type 2EE affect daily life?

What is the long-term outlook for someone with Charcot-Marie-Tooth disease, axonal, type 2EE?

Are there any specific specialists I should see for Charcot-Marie-Tooth disease, axonal, type 2EE?

Clinical Guidance

Explore clinical features

Differential Diagnosis

MPV17

DGUOK

Clinical Guidance

Clinical Trials

Neurologic

Metabolic

Renal

Ocular