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Niemann-Pick disease type B

Disease Summary
Associated Targets (2)
Tclin

1

Tchem

1


GARD Rare
Mondo Description 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
Uniprot Description A late-onset lysosomal storage disorder caused by failure to hydrolyze sphingomyelin to ceramide. It results in the accumulation of sphingomyelin and other metabolically related lipids in reticuloendothelial and other cell types throughout the body, leading to cell death. Clinical signs involve only visceral organs. The most constant sign is hepatosplenomegaly which can be associated with pulmonary symptoms. Patients remain free of neurologic manifestations. However, a phenotypic continuum exists between type A (basic neurovisceral) and type B (purely visceral) forms of Niemann-Pick disease, and the intermediate types encompass a cluster of variants combining clinical features of both types A and B. In Niemann-Pick disease type B, onset of the first symptoms occurs in early childhood and patients can survive into adulthood.
Mondo Term and Equivalent IDs
MONDO:0011871:  Niemann-Pick disease type B
GARD:0010729: 
ICD10:E75.241: 
MESH:D052537: 
NCIT:C126866: 
Orphanet:77293: 
SCTID:39390005: 
UMLS:C0268243: