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neuropathy, hereditary motor and sensory, type VIc, with optic atrophy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuropathy, hereditary motor and sensory, type VIc, with optic atrophy

MONDO:0032792

Also known as:CMT 6CCMT6CCharcot-Marie-Tooth Disease, Type 6C

Overview

GeneticsAutosomal recessive · PDXK (chr 21)

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 always present findings: Pes cavus, Color vision defect, Upper limb muscle weakness, and Areflexia and others; and common findings: Claw hand deformity.

Organ System	Phenotype Count	Example Features
Arms and legs	4	Upper limb muscle weakness, Claw hand deformity, Lower limb muscle weakness

Genetic Landscape

PDXK function has not been fully characterized.

Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy is associated with mutations in the PDXK gene on chromosome 21.

Diagnosis

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

Prognosis

Phenotype severity distribution: 13 always present features, 1 common feature.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618511

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 VIc, with optic atrophy

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

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Questions for Your Care Team

Questions for Your Care Team

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