Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2024

Primary information
ID	2024
Disorder	Gaucher disease Type 1
Inheritance	Autosomal recessive
Organ Affected	Eye,Bones,Liver,Lungs,Hair,Spleen,Nose,Skin
Onset	Early
Genotype-Phenotype Correlation	absence of neurological impairment,rarely life threatening. L444P [L483P] in all subtypes. N370S: homozygosity for the mutation is often predictive of milder disease features and is frequent in asymptomatic individuals ,N370S compound heterozygous patients, have the mildest overall disease, p.Asn409Ser, c.84dupG, c.115+1G>A, and p.Leu483Pro account for 90% of the mutated alleles in Ashkenazi Jewish individuals with type 1 GD
Refrences	28218669 25345088