galactosialidosis
Findings
No curated finding names galactosialidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009737), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal vertebral morphologyHPOHP:0003468
- Very frequent (80% to 99% of cases)
- Abnormality of the vertebral columnHPOHP:0000925
- Very frequent (80% to 99% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Infantile onset
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Infantile onset
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CTSAHGNC:9251
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Illumina · Autosomal recessive · 2019
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: galactosialidosis
- Also called
- Goldberg syndromeneuraminidase deficiency with beta-galactosidase deficiency