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

Rare Disease

galactosialidosis

MONDO:0009737

Also known as:Goldberg syndromeneuraminidase deficiency with beta-galactosidase deficiencyGSL

Find Clinical TrialsTrials

Overview

A lysosomal storage disease characterized by coarse facial features, macular ''cherry red spot'', and dysostosis multiplex. Clinical presentation can be heterogenous ranging from a severe, early-onset, rapidly progressive infantile form to late onset, slowly progressive juvenile/adult form.

GeneticsAutosomal recessive · CTSA (chr 20)

OnsetANTENATAL, INFANTILE

Clinical Trials1 registered

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: Hearing loss (hearing impairment), Seizure, Cherry red spot of the macula, and Coarse facial features and others; and sometimes findings: Hepatosplenomegaly. 18 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	4	Opacification of the corneal stroma, Cherry red spot of the macula, Visible small blood vessels in the eye (conjunctival telangiectasia)

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.

CTSA encodes cathepsin A (480 aa). Protective protein appears to be essential for both the activity of beta-galactosidase and neuraminidase, it associates with these enzymes and exerts a protective function necessary for their stability and activity. Highest expression in Adrenal Gland (495.6 TPM) and Cells Cultured fibroblasts (285.3 TPM).

Galactosialidosis is caused by mutations in the CTSA gene on chromosome 20.

The CTSA protein participates in NEU1 hydrolyses Neu5Ac from glycoconjugates pathway.

CTSA is classified as a druggable target (Druggable Genome, Enzyme, and Protease categories) with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 9 very common features.

Estimated prevalence: Unknown (Unknown prevalence).

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.

1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

13 publications have been identified in PubMed for galactosialidosis. Research spans Case Report / Case Series (69%), Review / Meta-Analysis (23%), and Clinical Trial Publication (8%).

Research Type	Count	% of Total
Patient case studies	9	69%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 1:59 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:256540

Orphanet

European rare disease database

Orphanet:351

GARD

Genetic and Rare Diseases Info Center

GARD:3953

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial 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

galactosialidosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

galactosialidosis

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications