Niemann-Pick Disease, Type A

Synonyms

Cholesterol Lipidoses, Neuronal

Cholesterol Lipidoses, Sphingomyelin

Cholesterol Lipidosis, Neuronal

Cholesterol Lipidosis, Sphingomyelin

Classical Niemann Pick Disease

Classical Niemann-Pick Disease

Deficiencies, Sphingomyelinase

Deficiency, Sphingomyelinase

Lipidoses, Neuronal Cholesterol

Lipidoses, Sphingomyelin

Lipidoses, Sphingomyelin Cholesterol

Lipidosis, Neuronal Cholesterol

Lipidosis, Sphingomyelin

Lipidosis, Sphingomyelin Cholesterol

Neuronal Cholesterol Lipidoses

Neuronal Cholesterol Lipidosis

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

Ophthalmoplegia, Supraoptic Vertical

Ophthalmoplegias, Supraoptic Vertical

Sphingomyelin Cholesterol Lipidoses

Sphingomyelin Cholesterol Lipidosis

Sphingomyelin Lipidoses

Sphingomyelin Lipidosis

Sphingomyelinase Deficiencies

Sphingomyelinase Deficiency

Sphingomyelinase Deficiency Disease

Sphingomyelinase Deficiency Diseases

Supraoptic Vertical Ophthalmoplegia

Supraoptic Vertical Ophthalmoplegias

Type A Niemann Pick Disease

Type A Niemann-Pick Disease

Vertical Ophthalmoplegia, Supraoptic

Vertical Ophthalmoplegias, Supraoptic

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.