Niemann-Pick Diseases

A group of autosomal recessive disorders in which harmful quantities of lipids accumulate in the viscera and the central nervous system. They can be caused by deficiencies of enzyme activities (SPHINGOMYELIN PHOSPHODIESTERASE) or defects in intracellular transport, resulting in the accumulation of SPHINGOMYELINS and CHOLESTEROL. There are various subtypes based on their clinical and genetic differences.

Also Known As:

Niemann Pick Disease; ASM Deficiencies; ASM Deficient Niemann Pick Disease; ASM-Deficient Niemann-Pick Diseases; Acid Sphingomyelinase deficient Niemann Pick Disease; Deficiencies, ASM; Deficiencies, Acid Sphingomyelinase; Deficiency, ASM; Deficiency, Acid Sphingomyelinase; Disease, ASM-Deficient Niemann-Pick; Diseases, ASM-Deficient Niemann-Pick; Niemann Pick Diseases; Niemann-Pick Disease, ASM-Deficient; Niemann-Pick Diseases, ASM-Deficient; Sphingomyelinase Deficiencies, Acid; Sphingomyelinase Deficiency, Acid; ASM Deficiency; ASM-Deficient Niemann-Pick Disease; Acid Sphingomyelinase Deficiency; Acid Sphingomyelinase-deficient Niemann-Pick Disease; Niemann-Pick Disease

Nervous System Diseases: 14178
- Central Nervous System Diseases: 4213
  - Brain Diseases: 15694
    - Metabolic Brain Diseases: 215
      - Inborn Metabolic Brain Diseases: 2
        Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
Hemic and Lymphatic Diseases: 6
- Lymphatic Diseases: 92
  - Histiocytosis: 520
    - Non-Langerhans-Cell Histiocytosis: 87
      - Niemann-Pick Diseases: 570
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
  - Inborn Errors Metabolism: 1162
    - Lysosomal Storage Diseases: 2132
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
  - Lipid Metabolism Disorders: 898
    - Inborn Errors Lipid Metabolism
      - Lipidoses: 669
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570
  - Metabolic Brain Diseases: 215
    - Inborn Metabolic Brain Diseases: 2
      - Nervous System Lysosomal Storage Diseases
        Sphingolipidoses: 241
        Niemann-Pick Diseases: 570

Flaviana Xavier Portela Selected Research

Flaviana Xavier Portela Research Topics

Disease

Therapy/Procedure