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neuronopathy, distal hereditary motor, type 2D - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, type 2D

MONDO:0014259

Also known as:FBXO38 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in FBXO38HMN 2D

Overview

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene.

GeneticsAutosomal dominant · FBXO38 (chr 5)

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: Decreased motor nerve conduction velocity and Proximal muscle weakness; and very common findings: Decreased Achilles reflex. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	7	Triceps weakness, Muscle spasm, Fasciculations

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.

FBXO38 encodes F-box protein 38 (1,188 aa). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of PDCD1/PD-1, thereby regulating T-cells-mediated immunity. Highest expression in Nerve Tibial (31.0 TPM) and Uterus (27.6 TPM).

Neuronopathy, distal hereditary motor, type 2D is associated with mutations in the FBXO38 gene on chromosome 5.

FBXO38 is classified as a druggable target with score 0.0.

Diagnosis

Genetic testing for FBXO38 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features, 1 very common feature.

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:55 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615575

GARD

Genetic and Rare Diseases Info Center

GARD:18265

Questions for Your Care Team

→Should I pursue genetic testing for FBXO38, and what would the results mean for my family?
→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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neuronopathy, distal hereditary motor, type 2D

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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