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neurogenic scapuloperoneal syndrome, Kaeser type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neurogenic scapuloperoneal syndrome, Kaeser type

MONDO:0008407

Also known as:Kaeser syndromestark-Kaeser syndromeSCPNK

Overview

GeneticsAutosomal dominant · DES (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 very common findings: Scapuloperoneal weakness and Shoulder girdle muscle atrophy; and common findings: Gynecomastia, Rimmed vacuoles, and Z-band streaming. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Weakness of facial musculature, Foot dorsiflexor weakness, Peroneal muscle atrophy

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.

DES encodes desmin (470 aa). Muscle-specific type III intermediate filament essential for proper muscular structure and function. Highest expression in Esophagus Muscularis (14,058 TPM) and Colon Sigmoid (13,011 TPM).

Neurogenic scapuloperoneal syndrome, Kaeser type is associated with mutations in the DES gene on chromosome 2.

The DES protein participates in Des-acyl Ghrelin, Preproghrelin and prepro-des-Gln14-ghrelin, and Proghrelin and Pro-des-Gln14-ghrelin pathways.

DES is classified as a druggable target with score 17.4.

Diagnosis

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

Prognosis

Phenotype severity distribution: 2 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

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 neurogenic scapuloperoneal syndrome, Kaeser type.

1 publication has been identified in PubMed for neurogenic scapuloperoneal syndrome, Kaeser type. Research spans Case Report / Case Series (100%).

Recent Publications

Wang L (2025). [PMID: 40529556](https://pubmed.ncbi.nlm.nih.gov/40529556/). *Front Cardiovasc Med*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 5:35 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:181400

Orphanet

European rare disease database

Orphanet:85146

GARD

Genetic and Rare Diseases Info Center

GARD:10312

Questions for Your Care Team

→Should I pursue genetic testing for DES, 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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neurogenic scapuloperoneal syndrome, Kaeser type

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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