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neuronopathy, distal hereditary motor, type 5B - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, type 5B

MONDO:0013884

Also known as:REEP1 neuronopathy, distal hereditary motorneuronopathy, distal hereditary motor caused by mutation in REEP1HMN 5B

Overview

Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the REEP1 gene.

GeneticsAutosomal dominant · REEP1 (chr 2)

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: Decreased motor nerve conduction velocity, Pes cavus, Thenar muscle atrophy, and Absent Achilles reflex; and common findings: Peroneal muscle weakness and Peroneal muscle atrophy. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	3	Peroneal muscle weakness, Peroneal muscle atrophy, Thenar muscle atrophy

Genetic Landscape

REEP1 function has not been fully characterized.

Neuronopathy, distal hereditary motor, type 5B is associated with mutations in the REEP1 gene on chromosome 2.

Diagnosis

Genetic testing for REEP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 4 always present features, 2 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 neuronopathy, distal hereditary motor, type 5B.

1 publication has been identified in PubMed for neuronopathy, distal hereditary motor, type 5B. Research spans Other (100%).

Recent Publications

Steyaert W (2025). [PMID: 40138663](https://pubmed.ncbi.nlm.nih.gov/40138663/). *Genome Res*. [Other]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614751

GARD

Genetic and Rare Diseases Info Center

GARD:18267

Questions for Your Care Team

→Should I pursue genetic testing for REEP1, 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 5B

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

Questions for Your Care Team

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