Type A Niemann-Pick Disease

Overview

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Is a:

Disease or Syndrome

Definition:

The classic infantile form of Niemann-Pick Disease, caused by mutation in sphingomyelin phosphodiesterase. It is characterized by accumulation of sphingomyelins in the cells of the mononuclear phagocyte system and other cell throughout the body leading to cell death. Clinical signs include jaundice, hepatosplenomegaly, and severe brain damage.

Synonyms:

Classical Niemann Pick Disease
Classical Niemann-Pick Disease
Niemann Pick Disease, Acute Neuronopathic Form
Niemann Pick Disease, Acute Neurovisceral Form
Niemann Pick Disease, Neuronopathic Type
Niemann Pick Disease, Type A
Niemann Pick's Disease Type A
Niemann-Pick Disease, Acute Neuronopathic Form
Niemann-Pick Disease, Acute Neurovisceral Form
Niemann-Pick Disease, Classical
Niemann-Pick Disease, Neuronopathic Type
Niemann-Pick's Disease Type A
Sphingomyelinase Deficiency Disease
Sphingomyelinase Deficiency Diseases
Type A Niemann Pick Disease
Type A Niemann-Pick Disease

Broader Topics:

Niemann-Pick Diseases

Narrower Topics:

None

Possibly Related Topics:

List of topics based on word similarity