Schimke Immunoosseous Dysplasia (SMARCAL1)
Schimke immunoosseous dysplasia is a pan-ethnic, autosomal recessive disease that is caused by pathogenic variants in the SMARCAL1 gene. The condition is characterized by short stature, facial dysmorphism, discolored skin patches, skeletal abnormalities, and T-cell deficiency. Most individuals with this condition have proteinuria, which can develop into end stage renal disease. Although age of onset does not directly predict life expectancy, the severe form of the disease that presents in infancy usually results in reduced life expectancy. Individuals with the mild presentation typically survive into adulthood if renal complications are treated. Although pathogenic SMARCAL1 variants that result in complete loss of protein function may cause a more severe form of the disease, no direct genotype-phenotype correlations have been reported.
|Disease Name||Gene||Guaranteed Exons||Inheritance||Ethnicity||Carrier Frequency||Detection Rate||Residual Risk|
|Schimke Immunoosseous Dysplasia||SMARCAL1||3-8, 10-13, 15-17  (*14)||AR||Worldwide||< 1 in 500||50%||0.001001001001001|