sialidosis type 1
Findings
No curated finding names sialidosis type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
Definition from the Mondo Disease Ontology (MONDO:0019346), read 2026-09-29. CC BY 4.0.
Features
42 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.
- Abnormal speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AminoaciduriaHPOHP:0003355
- Very frequent (80% to 99% of cases)
- AtaxiaHPOHP:0001251
- Very frequent (80% to 99% of cases)
- Cherry red spot of the maculaHPOHP:0010729
- Very frequent (80% to 99% of cases)
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Corneal opacityHPOHP:0007957
- Very frequent (80% to 99% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Very frequent (80% to 99% of cases)
- Dysostosis multiplexHPOHP:0000943
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- Increased urinary O-linked sialopeptidesHPOHP:0003461
- Very frequent (80% to 99% of cases)
Show the remaining 30
- MyoclonusHPOHP:0001336
- Very frequent (80% to 99% of cases)
- NystagmusHPOHP:0000639
- Very frequent (80% to 99% of cases)
- Pectus carinatumHPOHP:0000768
- Very frequent (80% to 99% of cases)
- Progressive visual lossHPOHP:0000529
- Very frequent (80% to 99% of cases)
- RetinopathyHPOHP:0000488
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- 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.
- NEU1HGNC:7758
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: sialidosis type 1
- Also called
- cherry-red spot-myoclonus syndromelipomucopolysaccharidosisNormomorphic sialidosisnormosomatic sialidosis