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Diseases List


Mucopolysaccharidosis

Mucopolysaccharidosis type I (MPS I) is a condition that affects many parts of the body. Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features that are described as "coarse," an enlarged liver and spleen (hepatosplenomegaly), and a large tongue (macroglossia).

Associated Genes

Gene Name Chromosome number
IDUA 4
GLB1 3
HYAL1 3
ARSB 5
GUSB 7
GNS 12
GALNS 16
NAGLU 17
SGSH 17