Niemann-Pick disease type C
MONDO:0018982Mondo
Findings
No curated finding names Niemann-Pick disease type C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
NPC is a complex lipid storage disease mainly characterized by the accumulation of unesterified cholesterol in the late endosomal/lysosomal compartment.
Definition from the Mondo Disease Ontology (MONDO:0018982), read 2026-09-29. CC BY 4.0.
Features
81 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of the liverHPOHP:0001392
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Very frequent (80% to 99% of cases)
- DysphagiaHPOHP:0002015
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
- HepatomegalyHPOHP:0002240
- Very frequent (80% to 99% of cases)
- JaundiceHPOHP:0000952
- Very frequent (80% to 99% of cases)
- Low cholesterol esterification rateHPOHP:0003349
- Very frequent (80% to 99% of cases)
- Mental deteriorationHPOHP:0001268
- Very frequent (80% to 99% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Very frequent (80% to 99% of cases)
- Vertical supranuclear gaze palsyHPOHP:0000511
- Very frequent (80% to 99% of cases)
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of mental functionHPOHP:0011446
- Frequent (30% to 79% of cases)
Show the remaining 69
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Aplasia/Hypoplasia of the abdominal wall musculatureHPOHP:0010318
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Axial dystoniaHPOHP:0002530
- Frequent (30% to 79% of cases)
- Bone-marrow foam cellsHPOHP:0004333
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
Where it sits
- Narrower terms (7)
- Niemann-Pick disease type C, adult neurologic onset
- Niemann-Pick disease type C, juvenile neurologic onset
- Niemann-Pick disease type C, late infantile neurologic onset
- Niemann-Pick disease type C, severe early infantile neurologic onset
- Niemann-Pick disease type C, severe perinatal form
- Niemann-Pick disease, type C1
- Niemann-Pick disease, type C2
Other names
1 name
Resolves to: Niemann-Pick disease type C
- Also called
- Niemann Pick Disease Type C