MPS Mutation Databases

Click on the names of the conditions below to link to the corresponding description at the Online Mendelian Inheritance in Man (OMIM) site.

Mutations for each gene for MPS are being tabulated to describe the global experience. In each case, clicking on the HUGO abbreviation (denoted in parentheses) links to a Mutation Database for that gene.

In many cases, such mutation can be "correlated" with various phenotypes (i.e., "genotype-phenotype correlation") with the hope that the cummulative experience will provide predictive information (i.e., "prognosis") as well as assist in the interpretation of experimental clinical trials.

Those who use this information are encouraged to check its validity and to notify the Curator of any errors or new information.

MPS type I (IDUA); Hurler, Scheie, and Hurler-Scheie, syndromes

MPS type II (IDS); Hunter syndrome

MPS type IIIA (IDUA); Sanfilippo syndrome type A

MPS type IIIB (NAGLU); Sanfilippo syndrome type B

• NAGLU mutations
• MPS IIIB genotype-phenotype correlations

MPS type IIIC (GNAT); Sanfilippo syndrome type C

MPS type IIID (G6S); Sanfilippo syndrome type D

MPS type IVA (GALNS); Morquio syndrome type A

MPS type IVB (GLB1); Morquio syndrome type B

MPS type VI (ASB); Maroteaux-Lamy syndrome

MPS type VII (GUSB); Sly syndrome