Welcome to Entry Card of Lysosomal Disorders
Details of RareLED ID 2003 |
| Primary information | |
|---|---|
| ID | 2003 |
| Disorder | MPS type I (Hurler and Scheie syndromes) |
| Inheritance | Autosomal recessive |
| Organ Affected | Skin, Bones, Head, Liver , Spleen |
| Onset | Early |
| Genotype-Phenotype Correlation | W402X, Q70X account for about 60% of disease alleles in Caucasians. R489P and G51D caused a severe phenotype, at least in combination with W402X on the other allele, while L490P, M504T (homozygous), W626R (with 475-2a?g on the other allele) and A327P (with 1995del12) led to a clinical phenotype with intermediate severity , p.Trp402X and p.Gln70X :severe phenotype, and the p.Pro533Arg associated with an intermediate-severe phenotype; the p.Gly51Asp and p.Pro496Arg mutations have been found until now only in Italian patients, associated with a severe phenotype |
| Refrences | 9748610 30442161 |