Niemann-Pick Disease, Type a (NPDA)

Alias:

Niemann-Pick Disease, Intermediate, Protracted Neurovisceral

Sphingomyelinase Deficiency

Niemann-Pick Disease Type a

Sphingomyelin Lipidosis

Niemann-Pick Disease Intermediate Protracted Neurovisceral

Acid Sphingomyelinase Deficiency, Neurovisceral Type

Niemann-Pick Disease Acute Neuronopathic Form

Niemann-Pick Disease Acute Neurovisceral Form

Niemann-Pick Disease Classical Infantile Form

Niemann-Pick Disease Neuronopathic Type

Classical Niemann-Pick Disease

Niemann-Pick Disease Type I

Asmd, Neurovisceral Type

Niemann-Pick Disease a

Niemann-Pick Diseases

Npda

Npa

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Niemann-Pick Disease, Type a, also known as niemann-pick disease, intermediate, protracted neurovisceral, is related to niemann-pick disease, type b and niemann-pick disease, and has symptoms including constipation, vomiting and muscle weakness. An important gene associated with Niemann-Pick Disease, Type a is SMPD1 (Sphingomyelin Phosphodiesterase 1), and among its related pathways/superpathways are Neuroscience and Sphingolipid 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 failure to thrive and developmental regression

Related ID：

MALACARDS：NMN013

OMIM：257200

MESH：D052536