Niemann-Pick disease, type C1
Findings
No curated finding names Niemann-Pick disease, type C1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type C Niemann-Pick disease associated with a mutation in the gene NPC1, encoding Niemann-Pick C1 protein.
Definition from the Mondo Disease Ontology (MONDO:0009757), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Gait ataxiaHPOHP:0002066
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients · Juvenile onset
- Low cholesterol esterification rateHPOHP:0003349
- 13 of 13 reported patients
- Sea-blue histiocytosisHPOHP:0001982
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 12 of 14 reported patients
- HepatomegalyHPOHP:0002240
- 7 of 13 reported patients
- SplenomegalyHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- NPC1HGNC:7897
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: Niemann-Pick disease, type C1
- Also called
- type C1 Niemann-Pick disease