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.

Descriptor ID	D052536
MeSH Number(s)	C10.228.140.163.100.435.825.700.500 C15.604.250.410.625.500 C16.320.565.189.435.825.700.500 C16.320.565.398.641.803.730.500 C16.320.565.595.554.825.700.500 C18.452.132.100.435.825.700.500 C18.452.584.687.803.730.500 C18.452.648.189.435.825.700.500 C18.452.648.398.641.803.730.500 C18.452.648.595.554.825.700.500
Concept/Terms	Niemann-Pick Disease, Type A Niemann-Pick Disease, Type A Niemann Pick Disease, Type A Classical Niemann-Pick Disease Classical Niemann Pick Disease Niemann-Pick Disease, Classical Niemann-Pick Disease, Acute Neuronopathic Form Niemann Pick Disease, Acute Neuronopathic Form Niemann-Pick Disease, Acute Neurovisceral Form Niemann Pick Disease, Acute Neurovisceral Form Niemann-Pick Disease, Neuronopathic Type Niemann Pick Disease, Neuronopathic Type Sphingomyelinase Deficiency Disease Sphingomyelinase Deficiency Diseases Sphingomyelin Cholesterol Lipidosis Cholesterol Lipidoses, Sphingomyelin Cholesterol Lipidosis, Sphingomyelin Lipidoses, Sphingomyelin Cholesterol Lipidosis, Sphingomyelin Cholesterol Sphingomyelin Cholesterol Lipidoses Type A Niemann-Pick Disease Type A Niemann Pick Disease Niemann-Pick's Disease Type A Niemann Pick's Disease Type A Sphingomyelin Lipidosis Lipidoses, Sphingomyelin Lipidosis, Sphingomyelin Sphingomyelin Lipidoses Sphingomyelinase Deficiency Deficiencies, Sphingomyelinase Deficiency, Sphingomyelinase Sphingomyelinase Deficiencies Neuronal Cholesterol Lipidosis Cholesterol Lipidoses, Neuronal Cholesterol Lipidosis, Neuronal Lipidoses, Neuronal Cholesterol Lipidosis, Neuronal Cholesterol Neuronal Cholesterol Lipidoses Ophthalmoplegia, Supraoptic Vertical Ophthalmoplegias, Supraoptic Vertical Supraoptic Vertical Ophthalmoplegia Supraoptic Vertical Ophthalmoplegias Vertical Ophthalmoplegia, Supraoptic Vertical Ophthalmoplegias, Supraoptic

Below are MeSH descriptors whose meaning is more general than "Niemann-Pick Disease, Type A".

Below are MeSH descriptors whose meaning is related to "Niemann-Pick Disease, Type A".

Below are MeSH descriptors whose meaning is more specific than "Niemann-Pick Disease, Type A".