Type A Niemann-Pick Disease

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.

Also Known As:

Niemann-Pick Disease, Type A; Classical Niemann-Pick Disease; Neuronal Cholesterol Lipidosis; Niemann-Pick Disease, Acute Neuronopathic Form; Niemann-Pick Disease, Acute Neurovisceral Form; Niemann-Pick Disease, Neuronopathic Type; Niemann-Pick's Disease Type A; Ophthalmoplegia, Supraoptic Vertical; Sphingomyelin Cholesterol Lipidosis; Sphingomyelin Lipidosis; Sphingomyelinase Deficiency; Cholesterol Lipidoses, Neuronal; Cholesterol Lipidoses, Sphingomyelin; Cholesterol Lipidosis, Neuronal; Cholesterol Lipidosis, Sphingomyelin; 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; 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, Classical; Ophthalmoplegias, Supraoptic Vertical; Sphingomyelin Cholesterol Lipidoses; Sphingomyelin Lipidoses; Sphingomyelinase Deficiencies; Sphingomyelinase Deficiency Diseases; Supraoptic Vertical Ophthalmoplegia; Supraoptic Vertical Ophthalmoplegias; Type A Niemann Pick Disease; Vertical Ophthalmoplegia, Supraoptic; Vertical Ophthalmoplegias, Supraoptic; Sphingomyelinase Deficiency Disease

Nervous System Diseases: 14737
- Central Nervous System Diseases: 4371
  - Brain Diseases: 16141
    - Metabolic Brain Diseases: 218
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
Hemic and Lymphatic Diseases: 7
- Lymphatic Diseases: 96
  - Histiocytosis: 536
    - Non-Langerhans-Cell Histiocytosis: 89
      - Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Inborn Genetic Diseases: 12342
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10634
  - Inborn Errors Metabolism: 1183
    - Lysosomal Storage Diseases: 2180
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
  - Lipid Metabolism Disorders: 987
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 676
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139
  - Metabolic Brain Diseases: 218
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 243
        Niemann-Pick Diseases: 577
        Type A Niemann-Pick Disease: 139

Marco Sassoe-Pognetto Selected Research

Marco Sassoe-Pognetto Research Topics

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