Biomaterial Database

Adult onset Niemann-Pick type C disease: Two different presentations. 2016

Shruti Mishra, and Kishalaya Karan, and Dipanwita Nag, and Prosenjit Sengupta

Department of Pathology, Medical College and Hospital, Kolkata, West Bengal, India.

UI	MeSH Term	Description	Entries
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D017668	Age of Onset	The age, developmental stage, or period of life at which a disease or the initial symptoms or manifestations of a disease appear in an individual.	Age-at-Onset,Age at Onset,Onset Age
D052556	Niemann-Pick Disease, Type C	An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.	Niemann-Pick Disease Type C,Niemann-Pick Disease, Type D,Niemann-Pick Type C Disease,Niemann-Pick Type D Disease,Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia,Niemann-Pick Disease Type D,Niemann-Pick Disease with Cholesterol Esterification Block,Niemann-Pick Disease without Sphingomyelinase Deficiency,Niemann-Pick Disease, Chronic Neuronopathic Form,Niemann-Pick Disease, Nova Scotian,Niemann-Pick Disease, Type C1,Niemann-Pick disease, Subacute Juvenile Form,Niemann-Pick's Disease Type C,Niemann-Pick's Disease Type D,Nova Scotia (Type D) Form of Niemann-Pick Disease,Nova Scotia Niemann-Pick Disease (Type D),Niemann Pick Disease Type C,Niemann Pick Disease Type D,Niemann Pick Disease with Cholesterol Esterification Block,Niemann Pick Disease without Sphingomyelinase Deficiency,Niemann Pick Disease, Chronic Neuronopathic Form,Niemann Pick Disease, Nova Scotian,Niemann Pick Disease, Type C,Niemann Pick Disease, Type C1,Niemann Pick Disease, Type D,Niemann Pick Type C Disease,Niemann Pick Type D Disease,Niemann Pick disease, Subacute Juvenile Form,Niemann Pick's Disease Type C,Niemann Pick's Disease Type D,Nova Scotia Niemann Pick Disease (Type D)