Welcome to Entry Card of Lysosomal Disorders

Details of RareLED ID 2031

Primary information
ID	2031
Disorder	MPS type III A
Inheritance	Autosomal recessive
Organ Affected	weakness of both lower limbs, hypotonia, dysphagia,macroglossia, Café au lait macule, Skin,Hair,Liver,Heart, Brain
Onset	Early
Genotype-Phenotype Correlation	p.Arg245His, p.Gln380Arg, p.Ser66Trp, and p.Val361SerfsX52 mutations, which have been found to be related to the development of a severe phenotype, while p.Gly122Arg, p.Arg206Pro, p.Ser298Pro, p.Ile322Ser, and p.Glu369Lys mutations have been reported as being associated with an attenuated phenotype, R206P : pathogenic allele located in active site of the enzyme. New vARIANT from India: c.613G?>?C
Refrences	30442161 30023302