Niemann-Pick disease, type C2
Findings
No curated finding names Niemann-Pick disease, type C2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Niemann-Pick disease type C2 is a rare metabolic condition that affects many different parts of the body. Although signs and symptoms can develop at any age (infancy through adulthood), most affected people develop features of the condition during childhood. Neimann-Pick disease type C2 may be characterized by ataxia (difficulty coordinating movements), vertical supranuclear gaze palsy (inability to move the eyes vertically), poor muscle tone, hepatosplenomegaly (enlarged liver and spleen), interstitial lung disease, intellectual decline, seizures, speech problems, and difficulty swallowing. Niemann-Pick disease type C2 is caused by changes (mutations) in the NPC2 gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for Niemann-Pick disease type C2. Treatment is based on the signs and symptoms present in each person.
Definition from the Mondo Disease Ontology (MONDO:0011873), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Neonatal onset · Death in childhood · Childhood 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.
- Low cholesterol esterification rateHPOHP:0003349
- 8 of 8 reported patients
- Pulmonary fibrosisHPOHP:0002206
- 1 of 1 reported patient
- Respiratory insufficiencyHPOHP:0002093
- 7 of 8 reported patients
- HepatomegalyHPOHP:0002240
- 5 of 8 reported patients
- JaundiceHPOHP:0000952
- 5 of 8 reported patients
- SplenomegalyHPOHP:0001744
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.
- NPC2HGNC:14537
- 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 · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
2 names
Resolves to: Niemann-Pick disease, type C2
- Also called
- NPC2type C2 Niemann-Pick disease