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early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy

MONDO:0700288

Overview

GeneticsAutosomal recessive · KLC4 (chr 6)

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: Clonus, Mild intellectual disability, Polyneuropathy, and Gait ataxia and others; and common findings: Increased circulating lactate concentration and Horizontal nystagmus. 29 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Clonus, Mild intellectual disability, Polyneuropathy

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.

KLC4 encodes kinesin light chain 4 (619 aa). Kinesin is a microtubule-associated force-producing protein that may play a role in organelle transport. Highest expression in Brain Cerebellar Hemisphere (39.7 TPM) and Brain Cerebellum (38.4 TPM).

Early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy is associated with mutations in the KLC4 gene on chromosome 6.

KLC4 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for KLC4 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 24 always present features, 2 common features.

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 9:37 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:621129

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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early-childhood-onset neurodegeneration with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy

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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