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neuropathy, hereditary motor and sensory, type 6B (CMT6B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuropathy, hereditary motor and sensory, type 6B

MONDO:0014671

Also known as:CMT6BCharcot-Marie-Tooth disease, type 6BHMSN 6B

Overview

Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene.

GeneticsAutosomal recessive · SLC25A46 (chr 5)

ResearchLimited published research (1 article)

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 always present findings: Peripheral axonal neuropathy; and common findings: Hypertonia, Ataxia, Global developmental delay, and Damage to the optic nerve (optic atrophy) and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	13	Peripheral axonal neuropathy, Steppage gait, Gait ataxia

Genetic Landscape

SLC25A46 function has not been fully characterized.

Neuropathy, hereditary motor and sensory, type 6B is caused by mutations in the SLC25A46 gene on chromosome 5.

Diagnosis

Genetic testing for SLC25A46 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature, 5 common features.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for neuropathy, hereditary motor and sensory, type 6B.

1 publication has been identified in PubMed for neuropathy, hereditary motor and sensory, type 6B. Research spans Case Report / Case Series (100%).

Recent Publications

Reynier P (2026). [PMID: 41640504](https://pubmed.ncbi.nlm.nih.gov/41640504/). *Neuroophthalmology*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:40 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616505

GARD

Genetic and Rare Diseases Info Center

GARD:18092

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?

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neuropathy, hereditary motor and sensory, type 6B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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