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neuronopathy, distal hereditary motor, autosomal dominant 10 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuronopathy, distal hereditary motor, autosomal dominant 10

MONDO:0859300

Also known as:neuronopathy, distal hereditary motor, type X

Overview

GeneticsAutosomal dominant · EMILIN1 (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: Fiber type grouping, Decreased compound muscle action potential amplitude, and Distal lower limb muscle weakness; and common findings: Clonus, Small thenar eminence, Pes cavus, and Joint hypermobility and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Clonus, Nerve damage affecting sensation and movement (sensorimotor neuropathy), Peripheral neuropathy

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.

EMILIN1 encodes elastin microfibril interfacer 1 (1,016 aa). Involved in elastic and collagen fibers formation. Highest expression in Uterus (377.3 TPM) and Colon Sigmoid (320.1 TPM).

Neuronopathy, distal hereditary motor, autosomal dominant 10 is associated with mutations in the EMILIN1 gene on chromosome 2.

The EMILIN1 protein participates in Emilin is found in elastic fibres and Elastic fibre formation pathways.

EMILIN1 is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

Genetic testing for EMILIN1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 16 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, autosomal dominant 10.

1 publication has been identified in PubMed for neuronopathy, distal hereditary motor, autosomal dominant 10. Research spans Basic Science / Preclinical (100%).

Recent Publications

Stanworth M (2024). [PMID: 39480826](https://pubmed.ncbi.nlm.nih.gov/39480826/). *PLoS One*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:34 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620080

Questions for Your Care Team

→Should I pursue genetic testing for EMILIN1, 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, autosomal dominant 10

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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