Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Inability to coordinate movements when walking
Always present (100%)HP:0002066
Low cholesterol esterification rate
Always present (100%)HP:0003349
Low intelligence
Always present (100%)HP:0001249
Sea-blue histiocytosis
Always present (100%)HP:0001982
Epilepsy
Very frequent (80-99%)HP:0001250
Enlarged liver
Frequent (30-79%)HP:0002240
Large spleen
Frequent (30-79%)HP:0001744
Ataxia
HP:0001251
Cataplexy
HP:0002524
Central hypotonia
HP:0001252
CNS foam cells
HP:0003640
Deglutition disorder
HP:0002015
Difficulty articulating speech
HP:0001260
Dystonic movements
HP:0001332
Fatal liver failure in infancy
HP:0006583
Fetal ascites
HP:0001791
Foamy macrophages
HP:0003651
Generalised decreased muscle tone
HP:0001290
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Jaundice, neonatal
HP:0006579
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
HP:0004333
Loss of speech
HP:0002371
Mental and motor retardation
HP:0001263
Neuronal loss in CNS
HP:0002529
Progressive dementia
HP:0000726
Psychosis
HP:0000709
Tau-positive tangle
HP:0002185
Unesterified cholesterol accumulation in cultured fibroblasts
HP:6000158
Vertical gaze palsy
HP:0000511
Related Conditions
Quick Facts
- SNOMED CT
- 18927009
- UMLS CUI
- C0268247
- Fully Specified Name
- Niemann-Pick disease, type D (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.