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Disease Niemann-Pick Disease, Type A

Name 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 Neuronopathic Form | Niemann Pick Disease, Acute Neurovisceral Form | Niemann-Pick Disease, Acute Neurovisceral Form | Niemann-Pick Disease, Classical | Niemann Pick Disease, Neuronopathic Type | Niemann-Pick Disease, Neuronopathic Type | Niemann Pick Disease, Type A | Niemann Pick's Disease Type A | Niemann-Pick's Disease Type A | Ophthalmoplegias, Supraoptic Vertical | Ophthalmoplegia, Supraoptic Vertical | Sphingomyelinase Deficiencies | Sphingomyelinase Deficiency | Sphingomyelinase Deficiency Disease | Sphingomyelinase Deficiency Diseases | SPHINGOMYELINASE DEFICIENCY NIEMANN-PICK DISEASE, INTERMEDIATE, PROTRACTED NEUROVISCERAL, INCLUDED | Sphingomyelin Cholesterol Lipidoses | Sphingomyelin Cholesterol Lipidosis | Sphingomyelin Lipidoses | Sphingomyelin Lipidosis | Supraoptic Vertical Ophthalmoplegia | Supraoptic Vertical Ophthalmoplegias | Type A Niemann Pick Disease | Type A Niemann-Pick Disease | Vertical Ophthalmoplegias, Supraoptic | Vertical Ophthalmoplegia, Supraoptic
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.
Categories Genetic disease (inborn) | Lymphatic disease | Metabolic disease | Nervous system disease
MeSH® ID D052536
OMIM® ID 257200

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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
2. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Histiocytosis Has associated chemicals Has associated genes Histiocytosis, Non-Langerhans-Cell Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism Disorders Has associated chemicals Has associated genes Has associated exposure references Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lipid Metabolism, Inborn Errors Has associated chemicals Has associated genes Lipidoses Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes
10. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Lysosomal Storage Diseases Has associated chemicals Has associated genes Lysosomal Storage Diseases, Nervous System Has associated chemicals Has associated genes Sphingolipidoses Has associated chemicals Has associated genes Niemann-Pick Diseases Has associated chemicals Has associated genes Niemann-Pick Disease, Type A Has associated chemicals Has associated genes

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