sialidosis type 2
Findings
No curated finding names sialidosis type 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare lysosomal storage disease, and the severe, early onset form of sialidosis characterized by a progressively severe mucopolysaccharidosis-like phenotype (coarse facies, dysostosis multiplex, hepatosplenomegaly), macular cherry-red spots as well as psychomotor and developmental delay. ST-2 displays a broad spectrum of clinical severity with antenatal/congenital, infantile and juvenile presentations.
Definition from the Mondo Disease Ontology (MONDO:0009738), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Reduced tissue neuraminidase activityHPOHP:6000911
- 1 of 1 reported patient
- Abnormal macular morphologyHPOHP:0001103
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Very frequent (80% to 99% of cases)
- AscitesHPOHP:0001541
- 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 speech and language development
Show the remaining 20
- Inguinal herniaHPOHP:0000023
- Very frequent (80% to 99% of cases)
- KyphosisHPOHP:0002808
- Very frequent (80% to 99% of cases)
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- Pedal edemaHPOHP:0010741
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Short thoraxHPOHP:0010306
- 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
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- Narrower terms (2)
Other names
10 names
Resolves to: sialidosis type 2
- Also called
- dysmorphic sialidosisdysmorphic sialidosis with renal involvementinfantile dysmorphic sialidosismucolipidosis InephrosialidosisNEU1 sialidosissialidosis caused by mutation in NEU1sialidosis type IIsialidosis, type 2sialidosis, type I