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congenital myasthenic syndrome 3C - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 3C

MONDO:0014585

Also known as:congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiencycongenital myasthenic syndrome type 3CCMS3C

Overview

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has material basis in compound heterozygous mutation in the CHRND gene on chromosome 2q37.

GeneticsAutosomal recessive · CHRND (chr 2)

ResearchLimited published research (5 articles)

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: Difficulty swallowing (dysphagia), Facial palsy, Increased muscle fatiguability, and Feeding difficulties and others. 12 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	3	Facial palsy, Weakness of facial musculature, High palate

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.

CHRND encodes cholinergic receptor nicotinic delta subunit (517 aa). After binding acetylcholine, the AChR responds by an extensive change in conformation that affects all subunits and leads to opening of an ion-conducting channel across the plasma membrane Highest expression in Muscle Skeletal (48.1 TPM) and Testis (0.6 TPM).

Congenital myasthenic syndrome 3C is associated with mutations in the CHRND gene on chromosome 2.

CHRND is classified as a druggable target (Druggable Genome, Ion Channel, and Transporter categories) with score 0.7.

Diagnosis

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

Prognosis

Phenotype severity distribution: 11 always present 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 congenital myasthenic syndrome 3C.

5 publications have been identified in PubMed for congenital myasthenic syndrome 3C. Research spans Basic Science / Preclinical (80%) and Epidemiology / Natural History (20%).

Recent Publications

Mroczek M (2026). [PMID: 41575592](https://pubmed.ncbi.nlm.nih.gov/41575592/). *J Neurol*. [Basic Science / Preclinical]
Zhang J (2025). [PMID: 40442802](https://pubmed.ncbi.nlm.nih.gov/40442802/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Wang K (2025). [PMID: 39871147](https://pubmed.ncbi.nlm.nih.gov/39871147/). *BMC Genomics*. [Basic Science / Preclinical]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome Med*. [Basic Science / Preclinical]
Holland SH (2024). [PMID: 39456185](https://pubmed.ncbi.nlm.nih.gov/39456185/). *Biomolecules*. [Basic Science / Preclinical]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:26 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616323

GARD

Genetic and Rare Diseases Info Center

GARD:16086

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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congenital myasthenic syndrome 3C

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

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