Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Inability to coordinate movements when walking
Always present (100%)HP:0002066
Sea-blue histiocytosis
Always present (100%)HP:0001982
Behavioral changes
Very frequent (80-99%)HP:0000708
Deglutition disorder
Very frequent (80-99%)HP:0002015
Enlarged liver
Very frequent (80-99%)HP:0002240
Gait disturbance
Very frequent (80-99%)HP:0001288
Intellectual deterioration
Very frequent (80-99%)HP:0001268
Liver disease
Very frequent (80-99%)HP:0001392
Low cholesterol esterification rate
Very frequent (80-99%)HP:0003349
Vertical gaze palsy
Very frequent (80-99%)HP:0000511
Worsening neurological symptoms
Very frequent (80-99%)HP:0002344
Yellowing of the skin
Very frequent (80-99%)HP:0000952
Abnormal vocalization
Frequent (30-79%)HP:0002167
Abnormality of mental function
Frequent (30-79%)HP:0011446
Abnormality of movement
Frequent (30-79%)HP:0100022
Absent/small abdominal wall muscles
Frequent (30-79%)HP:0010318
Ataxia
Frequent (30-79%)HP:0001251
Axial dystonia
Frequent (30-79%)HP:0002530
Difficulty articulating speech
Frequent (30-79%)HP:0001260
Dysphonia
Frequent (30-79%)HP:0001618
Dystonic movements
Frequent (30-79%)HP:0001332
Epilepsy
Frequent (30-79%)HP:0001250
Feeding difficulties
Frequent (30-79%)HP:0011968
Foamy macrophages
Frequent (30-79%)HP:0003651
Gait ataxia, progressive
Frequent (30-79%)HP:0007240
Hypoacusis
Frequent (30-79%)HP:0000365
Intellectual impairment
Frequent (30-79%)HP:0100543
Large spleen
Frequent (30-79%)HP:0001744
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
Frequent (30-79%)HP:0004333
Limb dystonia
Frequent (30-79%)HP:0002451
Quick Facts
- SNOMED CT
- 66751000
- UMLS CUI
- C0220756
- Fully Specified Name
- Niemann-Pick disease, type C (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.