Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

myoclonus, familial, 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

myoclonus, familial, 1

MONDO:0100093

Also known as:myoclonus, familial corticalFCMMYOCL1

Overview

Familial cortical myoclonus caused by heterozygous mutation in the NOL3 gene on chromosome 16q22.

GeneticsAutosomal dominant · NOL3 (chr 16)

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: Action myoclonus; and very common findings: Insomnia. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	5	Action myoclonus, Action tremor, Insomnia
Muscles

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.

NOL3 encodes nucleolar protein 3 (208 aa). May be involved in RNA splicing Highest expression in Prostate (77.9 TPM) and Skin Not Sun Exposed Suprapubic (73.4 TPM).

Myoclonus, familial, 1 is associated with mutations in the NOL3 gene on chromosome 16.

NOL3 is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for NOL3 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for myoclonus, familial, 1 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature, 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 myoclonus, familial, 1.

53 publications have been identified in PubMed for myoclonus, familial, 1. Research spans Case Report / Case Series (42%), Basic Science / Preclinical (19%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Patient case studies	22	42%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 11:02 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614937

Questions for Your Care Team

→Should I pursue genetic testing for NOL3, 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?

← Back to All Diseases

Kisho

myoclonus, familial, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

myoclonus, familial, 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications