Niemann-Pick disease
cv_term_accession
KW-1054
canonical
uniprot_keyword
KW-1054
canonical
name
Niemann-Pick disease
uniprot
synonym
NPD
uniprot
synonym
Niemann's disease
uniprot
definition
Protein which, if defective, causes Niemann-Pick disease. Niemann-Pick disease comprises an inherited group of congenital lipidoses in which sphingolipids accumulate in cells, especially in the reticuloendothelial system, due to defective lysosomal storage. The disease is clinically characterized by progressive degeneration of the central nervous system with visceral accumulation of cholesterol and sphingomyelin. The clinical phenotype is highly variable and different types are distinguished by age of onset, degree of central nervous system involvement and by the amount of sphingomyelin phosphodiesterase activity.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords