Niemann-Pick disease type B
Findings
No curated finding names Niemann-Pick disease type B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Niemann-Pick disease type B is a mild subtype of Niemann-Pick disease, an autosomal recessive lysosomal disease, and is characterized clinically by onset in childhood with hepatosplenomegaly, growth retardation, and lung disorders such as infections and dyspnea
Definition from the Mondo Disease Ontology (MONDO:0011871), read 2026-09-29. CC BY 4.0.
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
52 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.
- SplenomegalyHPOHP:0001744
- 14 of 15 reported patients
- Frequent (30% to 79% of cases)
- HypertriglyceridemiaHPOHP:0002155
- 24 of 29 reported patients
- Frequent (30% to 79% of cases)
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 36 of 44 reported patients
- Frequent (30% to 79% of cases)
- HepatomegalyHPOHP:0002240
- 10 of 15 reported patients
- Frequent (30% to 79% of cases)
- Decreased DLCOHPOHP:0045051
- 5 of 8 reported patients
- Abnormal blood gas levelHPOHP:0012415
Show the remaining 40
- Elevated circulating LDL-C concentrationHPOHP:0003141
- 23 of 44 reported patients
- Frequent (30% to 79% of cases)
- HyperlipidemiaHPOHP:0003077
- Frequent (30% to 79% of cases)
- HypersplenismHPOHP:0001971
- Frequent (30% to 79% of cases)
- Interstitial pneumonitisHPOHP:0006515
- Frequent (30% to 79% of cases)
- OsteopeniaHPOHP:0000938
- Frequent (30% to 79% of cases)
- OsteoporosisHPOHP:0000939
- Frequent (30% to 79% of cases)
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.
- SMPD1HGNC:11120
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: Niemann-Pick disease type B
- Also called
- type B Niemann-Pick disease