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autosomal dominant slowed nerve conduction velocity - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

autosomal dominant slowed nerve conduction velocity

MONDO:0011998

Also known as:slowed nerve conduction velocity, ADSNCVslowed nerve conduction velocity, autosomal dominant

Overview

Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

GeneticsAutosomal dominant · ARHGEF10 (chr 8)

ResearchLimited published research (4 articles)

Clinical Presentation

Features include: Peripheral demyelination, Onion bulb formation, and Decreased nerve conduction velocity.

Explore clinical features

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.

ARHGEF10 encodes Rho guanine nucleotide exchange factor 10 (1,369 aa). May play a role in developmental myelination of peripheral nerves Highest expression in Nerve Tibial (140.5 TPM) and Testis (47.1 TPM).

Autosomal dominant slowed nerve conduction velocity has limited evidence linking it to mutations in the ARHGEF10 gene on chromosome 8.

The ARHGEF10 protein participates in RHOA GEFs activate RHOA, RHOC GEFs activate RHOC, and RHOB GEFs activate RHOB pathways.

ARHGEF10 is classified as a druggable target with score 1.4.

Diagnosis

Genetic testing for ARHGEF10 is available. Testing is considered research-grade for diagnosis.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 autosomal dominant slowed nerve conduction velocity.

4 publications have been identified in PubMed for autosomal dominant slowed nerve conduction velocity. Research spans Basic Science / Preclinical (50%), Clinical Trial Publication (25%), and Epidemiology / Natural History (25%).

Recent Publications

Sivadasan A (2026). [PMID: 41352124](https://pubmed.ncbi.nlm.nih.gov/41352124/). *EBioMedicine*. [Clinical Trial Publication]
Shumeri E (2025). [PMID: 40588830](https://pubmed.ncbi.nlm.nih.gov/40588830/). *Journal of the peripheral nervous system : JPNS*. [Basic Science / Preclinical]
Sadjadi R (2024). [PMID: 39133880](https://pubmed.ncbi.nlm.nih.gov/39133880/). *Neurology*. [Epidemiology / Natural History]
Wilhelm SDP (2024). [PMID: 39352000](https://pubmed.ncbi.nlm.nih.gov/39352000/). *IUBMB life*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 3:01 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:608236

Orphanet

European rare disease database

Orphanet:140481

GARD

Genetic and Rare Diseases Info Center

GARD:16962

Questions for Your Care Team

→Should I pursue genetic testing for ARHGEF10, 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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autosomal dominant slowed nerve conduction velocity

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team