Overview
Kerasin thesaurismosis is a disorder.
Auto-generated from clinical reference data. Not a substitute for medical advice.
Treatments & Interventions
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased haemoglobin
Very frequent (80-99%)HP:0001903
Decreased lysosomal acid glucosylceramidase activity
Very frequent (80-99%)HP:0003656
Enlarged liver
Very frequent (80-99%)HP:0002240
Large spleen
Very frequent (80-99%)HP:0001744
Tiredness
Very frequent (80-99%)HP:0012378
Abnormal bone structure
Frequent (30-79%)HP:0003330
Abnormality of movement
Frequent (30-79%)HP:0100022
Arthritic pain
Frequent (30-79%)HP:0002829
Ataxia
Frequent (30-79%)HP:0001251
Bone pain
Frequent (30-79%)HP:0002653
Death of bone due to decreased blood supply
Frequent (30-79%)HP:0010885
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed puberty
Frequent (30-79%)HP:0000823
Delayed skeletal development
Frequent (30-79%)HP:0002750
Depression
Frequent (30-79%)HP:0000716
Elevated circulating Angiotensin-converting enzyme concentration
Frequent (30-79%)HP:6000213
Elevated circulating CCL18 level
Frequent (30-79%)HP:0032640
Erlenmeyer flask femora
Frequent (30-79%)HP:0004975
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Gallstones
Frequent (30-79%)HP:0001081
Generalized tonic-clonic seizure (without specification of onset)
Frequent (30-79%)HP:0002069
Hyperferritinemia
Frequent (30-79%)HP:0003281
Increased fracture rate
Frequent (30-79%)HP:0002757
Joint dislocation
Frequent (30-79%)HP:0001373
Leukopenia
Frequent (30-79%)HP:0001882
Myoclonic epilepsy, progressive
Frequent (30-79%)HP:0002123
Osteopenia
Frequent (30-79%)HP:0000938
Poor growth
Frequent (30-79%)HP:0001510
Poor school performance
Frequent (30-79%)HP:0001249
Psychomotor regression, progressive
Frequent (30-79%)HP:0002376
Related Conditions
Quick Facts
- SNOMED CT
- 180485001
- UMLS CUI
- C0017205
- Fully Specified Name
- Kerasin thesaurismosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
- Known Treatments
- 8
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.