Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Alanine aminotransferase increased
Always present (100%)HP:0031964
Delayed CNS myelination
Always present (100%)HP:0002188
Elevated serum aspartate aminotransferase
Always present (100%)HP:0031956
Enlarged liver
Always present (100%)HP:0002240
Feeding difficulties in infancy
Always present (100%)HP:0008872
Inability to walk
Always present (100%)HP:0002540
Irritable mood
Always present (100%)HP:0000737
Macular cherry red spot
Always present (100%)HP:0010729
Mental and motor retardation
Always present (100%)HP:0001263
Neurogenic muscle atrophy, especially in the lower limbs
Always present (100%)HP:0003202
Psychomotor regression in infants
Always present (100%)HP:0002376
Undergrowth
Always present (100%)HP:0001508
Large head
Occasional (5-29%)HP:0000256
Peritoneal effusion
Occasional (5-29%)HP:0001541
Prolonged neonatal jaundice
Occasional (5-29%)HP:0006579
Abdominal protuberance
HP:0001538
Athetoid movements
HP:0002305
Decreased body height
HP:0004322
Diffuse reticular or finely nodular infiltrations
HP:0002207
Dyschezia
HP:0002019
Foam cells with lamellar inclusion bodies
HP:0003609
Hyporeflexia
HP:0001265
Involuntary muscle stiffness, contraction, or spasm
HP:0001257
Large spleen
HP:0001744
Large vacuolated foam cells ('NP cells') on bone marrow biopsy
HP:0004333
Mental deficiency
HP:0001249
Microcytic anemia
HP:0001935
Muscle rigidity
HP:0002063
Muscle weakness
HP:0001324
Osteoporosis
HP:0000939
Quick Facts
- SNOMED CT
- 52165006
- UMLS CUI
- C0268242
- Fully Specified Name
- Niemann-Pick disease, type A (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.