Overview
By MedlinePlus, National Library of Medicine
Courtesy of the National Library of Medicine. Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Reduced tissue neuraminidase activity
Always present (100%)HP:6000911
Ascites
HP:0001541
Cataract
HP:0000518
Decreased body height
HP:0004322
Decreased visual acuity, progressive
HP:0000529
Disease of the heart muscle
HP:0001638
Dysmetria
HP:0001310
Dysostosis multiplex
HP:0000943
Enlarged liver
HP:0002240
Enlarged lysosomal vacuoles in lymphocytes
HP:0001922
Facial swelling
HP:0000282
Generalised decreased muscle tone
HP:0001290
Hydrops fetalis
HP:0001789
Increased heart size
HP:0001640
Increased reflexes
HP:0001347
Increased urinary O-linked sialopeptides
HP:0003461
Increased urinary sialyloligosaccharides
HP:0012061
Inguinal hernia
HP:0000023
Involuntary jerking movements
HP:0001336
Involuntary, rapid, rhythmic eye movements
HP:0000639
Large spleen
HP:0001744
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
HP:0004333
Low intelligence
HP:0001249
Macular cherry red spot
HP:0010729
Muscle atrophy, neurogenic
HP:0003202
Muscle weakness
HP:0001324
Muscular hypotonia
HP:0001252
Proteinuria
HP:0000093
Seizures
HP:0001250
Sensorineural deafness
HP:0000407
Quick Facts
- SNOMED CT
- 38795005
- UMLS CUI
- C0268226
- Fully Specified Name
- Sialidosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.