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

Rare Disease

sphingolipidosis

MONDO:0019255

Also known as:sphingolipidoses

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Overview

An inherited metabolic disorder that affects the lysosomal degradation of the spinhgolipids. Representative examples include Gaucher disease, Tay-Sachs disease, and Niemann-Pick disease.

OnsetLATE

Clinical Trials2 registered · 1 recruiting

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: later in life.

GeneReviews

Clinical Guidance

Fabry disease encompasses a spectrum of phenotypes ranging from the severe classic phenotype to atypical late-onset forms. The late-onset forms are more common than the classic phenotype. However, in registries and publications individuals with the classic phenotype are overrepresented. Individuals with atypical Fabry disease present later in life and are underdiagnosed . Significant diagnostic delays are reported in the Fabry Outcome Survey (FOS) ; they are particularly common in females and may lead to avoidable complications . The FOS and the Fabry Registry, multicenter international initiatives designed to examine the natural history of Fabry disease and the effects of enzyme replacement therapy (ERT), are an important source of long-term data on the disease [, , , ].

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

Suggestive Findings

Fabry disease typically affects more than one organ system and should be suspected in males and females with the following clinical features, particularly if more than one is present:

Vascular cutaneous lesions (angiokeratomas)
Periodic crises of severe pain in the extremities (acroparesthesia)

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 sphingolipidosis. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Fabry disease, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 6. Recommended Evaluations Following Initial Diagnosis in Individuals with Fabry Disease

Prognosis

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

GeneReviews

Surveillance Guidelines

The following are general guidelines, and the frequency of evaluations should be adjusted based on disease severity and needs of the affected individual. Individuals receiving ERT are typically evaluated more frequently (e.g., every 6 months). Table 7. Recommended Surveillance for Individuals with Fabry Disease

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.

2 clinical trials registered, 1 recruiting. Interventions under study include drug therapy, other interventions, and biologic therapy. Pipeline includes 1 PHASE2. Research is primarily sponsored by academic and government institutions.

33 publications have been identified in PubMed for sphingolipidosis. Research spans Basic Science / Preclinical (39%), Diagnostic / Biomarker (18%), and Gene Therapy / Novel Therapeutics (12%).

Research Type	Count	% of Total
Laboratory research	13

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 12:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79225

GARD

Genetic and Rare Diseases Info Center

GARD:7672

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→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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Kisho

sphingolipidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Systemic symptoms

Cardiovascular

Renal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

sphingolipidosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Systemic symptoms

Cardiovascular

Renal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications