Niemann-Pick Disease, Type B (NPDB)

Alias:

Niemann-Pick Disease Type B

Niemann-Pick Disease Intermediate with Visceral Involvement and Rapid Progression

Niemann-Pick Disease Adult Non-Neuronopathic Form

Acid Sphingomyelinase Deficiency, Visceral Type

Niemann-Pick Disease Visceral Form

Niemann-Pick Disease, Type a

Niemann-Picks Disease Type B

Niemann-Pick Disease, Type E

Sphingomyelinase Deficiency

Niemann-Pick Disease Type I

Niemann-Pick Disease Type E

Niemann-Pick Disease Type F

Sphingomyelin Lipidosis

Niemann-Pick Disease B

Niemann-Pick Diseases

Asmd, Visceral Type

Npdb

Npb

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Niemann-Pick Disease, Type B, also known as niemann-pick disease type b, is related to niemann-pick disease and splenomegaly, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease, Type B is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Sphingolipid metabolism and Cholesterol metabolism. The drugs Miglustat and Glycoside Hydrolase Inhibitors have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and liver, and related phenotypes are splenomegaly and hypertriglyceridemia

Related ID：

MALACARDS：NMN016

OMIM：607616

MESH：D052537