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

congenital myasthenic syndrome 3B (CMS3B) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 3B

MONDO:0014584

Also known as:CMS3Bcongenital myasthenic syndrome 3B, fast-channelcongenital myasthenic syndrome type 3B

Overview

A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has material basis in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37.

GeneticsAutosomal recessive · CHRND (chr 2)

OnsetNEONATAL

ResearchLimited published research (4 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: Easy fatigability, Feeding difficulties, Fatigable weakness, and Low muscle tone (hypotonia) and others; and sometimes findings: Decreased fetal movement. 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Fatigable weakness, Low muscle tone (hypotonia), Neonatal hypotonia

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 3B 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.

Biomarker and diagnostic research for congenital myasthenic syndrome 3B has been reported in the published literature.

Prognosis

Phenotype severity distribution: 8 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 3B.

4 publications have been identified in PubMed for congenital myasthenic syndrome 3B. Research spans Epidemiology / Natural History (50%), Diagnostic / Biomarker (25%), and Basic Science / Preclinical (25%).

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]
de Feraudy Y (2024). [PMID: 38982518](https://pubmed.ncbi.nlm.nih.gov/38982518/). *Genome Med*. [Epidemiology / Natural History]
Ryan-Phillips F (2024). [PMID: 39595115](https://pubmed.ncbi.nlm.nih.gov/39595115/). *Biomedicines*. [Diagnostic / Biomarker]

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616322

GARD

Genetic and Rare Diseases Info Center

GARD:16085

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?

← Back to All Diseases

congenital myasthenic syndrome 3B

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features