/Niemann-Pick disease type B

Niemann-Pick disease type B

Rare Disease

MONDO:0011871

Also Known As

type B Niemann-Pick diseaseNiemann Pick disease type BNiemann-PICK disease, type BNiemann-Pick disease, Intermediate, with visceral involvement and rapid progressionNiemann-Pick disease, type ENiemann-Pick disease, type F

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