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

Rare Disease

oligosaccharidosis

MONDO:0019251

Overview

OnsetADULT, ANTENATAL, INFANTILE

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.

No HPO annotations are available for this condition.

Age of onset: adulthood, before birth, infancy.

GeneReviews

Clinical Guidance

The clinical phenotype of alpha-mannosidosis varies considerably, with a wide spectrum of clinical findings and broad variability in individual presentation. Designating clinical types can be useful in prognosis and management. At least three clinical types (mild, moderate, and severe) have been suggested based on individuals who have not been treated with enzyme replacement therapy (ERT; see ). Most individuals described fit into the moderate type.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

A proposed diagnostic algorithm for alpha-mannosidosis has been published, but clinical findings alone are not enough to establish the diagnosis because they overlap with clinical findings in other storage disorders .

Suggestive Findings

Alpha-mannosidosis should be suspected in individuals with the following clinical, radiographic, supportive laboratory, pathology, and family history findings.

Clinical features

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for oligosaccharidosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for alpha-mannosidosis have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with alpha-mannosidosis, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended.

Table 6.

Alpha-Mannosidosis: Recommended Surveillance1

System/Concern | Evaluation | Frequency

Constitutional/

Poor growth

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 oligosaccharidosis.

1 publication has been identified in PubMed for oligosaccharidosis. Research spans Case Report / Case Series (100%).

Recent Publications

Gaston J (2026). [PMID: 41399194](https://pubmed.ncbi.nlm.nih.gov/41399194/). *Australas J Dermatol*. [Case Report / Case Series]

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 8:10 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79215

GARD

Genetic and Rare Diseases Info Center

GARD:18977

Questions for Your Care Team

→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

oligosaccharidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Poor growth

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

KCNJ8

Constitutional

Hearing

Rheumatologic

Development

Psychiatric

Neurologic

Clinical Trials

Neurodevelopment

Psychiatric

Neurologic

Musculoskeletal

Gastrointestinal

oligosaccharidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Poor growth

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

KCNJ8

Constitutional

Hearing

Rheumatologic

Development

Psychiatric

Neurologic

Clinical Trials

Neurodevelopment

Psychiatric

Neurologic

Musculoskeletal

Gastrointestinal