Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2039

Primary information
ID	2039
Disorder	Niemann Pick disease(NPDA)
Inheritance	Autosomal recessive
Organ Affected	Eye,Liver,Lungs,Muscle,Spleen,Bones,Skin,Nervous System
Onset	Early
Genotype-Phenotype Correlation	The brain of type A NPD patients is usually atrophic.There is a loss of cells in the cerebral and cerebellar cortices of type A infants, along with gliosis in both gray and white matter,Foam cells,present developmental delay, hepatosplenomegaly and progressive neurodegeneration, Nervous System,
Refrences	28164782