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sialidosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

sialidosis

MONDO:0017734

Overview

Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.

Diagnosis

Biomarker and diagnostic research for sialidosis has been reported in the published literature.

Prognosis

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 sialidosis.

28 publications have been identified in PubMed for sialidosis. Research spans Case Report / Case Series (32%), Review / Meta-Analysis (25%), and Basic Science / Preclinical (25%).

Research Type	Count	% of Total
Patient case studies	9	32%

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 7:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:309294

GARD

Genetic and Rare Diseases Info Center

GARD:21331

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
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Kisho

sialidosis

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Progressive myoclonic ataxia due to late-onset sialidosis.

sialidosis

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications

Latest News & Developments

Progressive myoclonic ataxia due to late-onset sialidosis.