Niemann-Pick Disease, Type A

**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.

**Tree numbers:** - 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 - C18.452.584.563.641.803.730.500 - C18.452.648.189.435.825.700.500 - C18.452.648.398.641.803.730.500 - C18.452.648.595.554.825.700.500

**Synonyms:** - Classical Niemann-Pick Disease - Niemann-Pick Disease, Acute Neuronopathic Form - Niemann-Pick Disease, Acute Neurovisceral Form - Niemann-Pick Disease, Neuronopathic Type - Sphingomyelinase Deficiency Disease - Type A Niemann-Pick Disease - Niemann-Pick's Disease Type A - Sphingomyelin Lipidosis - Sphingomyelinase Deficiency - Neuronal Cholesterol Lipidosis - Sphingomyelin Cholesterol Lipidosis - Ophthalmoplegia, Supraoptic Vertical