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 17 (CMS17) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital myasthenic syndrome 17

MONDO:0014578

Also known as:CMS17LRP4 congenital myasthenic syndromecongenital myasthenic syndrome caused by mutation in LRP4

Overview

Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene.

GeneticsAutosomal recessive · LRP4 (chr 11)

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: Hyporeflexia, Difficulty walking (gait disturbance), Feeding difficulties, and Ptosis and others.

Organ System	Phenotype Count	Example Features
Muscles	3	Type 1 muscle fiber predominance, Muscle weakness, EMG: decremental response of compound muscle action potential to repetitive nerve stimulation

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.

LRP4 encodes LDL receptor related protein 4 (1,905 aa). Mediates SOST-dependent inhibition of bone formation. Functions as a specific facilitator of SOST-mediated inhibition of Wnt signaling. Highest expression in Skin Sun Exposed Lower leg (55.9 TPM) and Skin Not Sun Exposed Suprapubic (55.2 TPM).

Congenital myasthenic syndrome 17 has limited evidence linking it to mutations in the LRP4 gene on chromosome 11.

LRP4 is classified as a druggable target (Cell Surface and Kinase categories) with score 0.0.

Diagnosis

Genetic testing for LRP4 is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for congenital myasthenic syndrome 17 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 7 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 17.

19 publications have been identified in PubMed for congenital myasthenic syndrome 17. Research spans Case Report / Case Series (47%), Basic Science / Preclinical (21%), and Review / Meta-Analysis (16%).

Research Type	Count	% of Total
Patient case studies	9	47%

Data assembled from 6 of 12 sources · Last updated Oct 3, 2026, 8:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616304

GARD

Genetic and Rare Diseases Info Center

GARD:16080

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

Kisho

congenital myasthenic syndrome 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

congenital myasthenic syndrome 17

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications