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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
Networked: 137 relevant articles (0 outcomes, 10 trials/studies)

Disease Context: Research Results

Related Diseases

1. Niemann-Pick Diseases (Niemann Pick Disease)
2. GM1 Gangliosidosis (Gangliosidosis GM1)
3. Mannosidase Deficiency Diseases (Mannosidosis)
4. GM2 Gangliosidoses (GM2 Gangliosidosis)
5. Lysosomal Storage Diseases (Lysosomal Storage Disease)

Experts

1. Schuchman, Edward H: 6 articles (01/2019 - 04/2009)
2. Prinetti, Alessandro: 4 articles (07/2022 - 04/2009)
3. Sonnino, Sandro: 4 articles (07/2022 - 04/2009)
4. Muro, Silvia: 4 articles (01/2019 - 08/2014)
5. Zheng, Wei: 4 articles (01/2019 - 11/2012)
6. Prioni, Simona: 3 articles (07/2022 - 04/2009)
7. Ledesma, Maria Dolores: 3 articles (01/2015 - 01/2009)
8. Chiricozzi, Elena: 2 articles (07/2022 - 09/2011)
9. Breiden, Bernadette: 2 articles (08/2021 - 04/2020)
10. Sandhoff, Konrad: 2 articles (08/2021 - 04/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Type A Niemann-Pick Disease:
1. Sphingomyelin Phosphodiesterase (Sphingomyelinase)IBA
2. SphingomyelinsIBA
3. AcidsIBA
4. EnzymesIBA
5. LipidsIBA
6. 4-nitrophenethyl bromide (NPB)IBA
7. NF-kappa B (NF-kB)IBA
8. ProstaglandinsIBA
9. OligosaccharidesIBA
10. succinylated wheat germ agglutininIBA

Therapies and Procedures

1. Transplantation
2. Induced Abortion (Induced Abortions)
3. Therapeutics
4. Cord Blood Stem Cell Transplantation
5. Hematopoietic Stem Cell Transplantation