Disease Matrix Disease Matrix

Disease Name Number of Patients, Donors Gene ORPHA Code ICD 10 OMIM Synonym(s)
Mucopolysaccharidosis type 1 (MPS) IDUA ORPHA579 E76.0 #607014 #607015 #607016 Alpha-L-iduronidase deficiency MPS1
Mucopolysaccharidosis type 2 (MPS) IDS ORPHA580 E76.1 #309900 Hunter syndrome; Iduronate 2-sulfatase deficiency; IDS deficiency; sulfoiduronate sulfatase deficiency; SIDS deficiency Mucopolysaccharidosis type II; MPSII
Mucopolysaccharidosis type 2, attenuated form (MPS) ORPHA217093 E76.1 Hunter syndrome type B Iduronate 2-sulfatase deficiency type B Mucopolysaccharidosis type 2B Mucopolysaccharidosis type II, attenuated form Mucopolysaccharidosis type IIB
Mucopolysaccharidosis type 2, severe form (MPS) ORPHA217085 E76.1 Hunter syndrome type A Iduronate 2-sulfatase deficiency type A Mucopolysaccharidosis type 2A Mucopolysaccharidosis type II, severe form Mucopolysaccharidosis type IIA
Mucopolysaccharidosis type 3 (MPS) SGSH NAGLU HGSNAT GNS ORPHA581 E76.2 #252900 #252920 #252930 #252940 MPSIII Sanfilippo disease
Mucopolysaccharidosis type 4 (MPS) GALNS GLB1 ORPHA582 E76.2 #253000 #253010 252300 Morquio disease Mucopolysaccharidosis type IV
Mucopolysaccharidosis type 4A (MPSIVA) GALNS ORPHA309297 #253000 Morquio syndrome A MPS IVA Morquio A disease Galactosamine-6-Sulfatase Deficiency GALNS deficiency
Mucopolysaccharidosis type 4B (MPSIVB) GLB1 ORPHA309310 E76.211 #253010 Beta-D-galactosidase deficiency MPSIVB Morquio disease type B Mucopolysaccharidosis type IVB
Mucopolysaccharidosis type 6 (MPS6) ARSB ORPHA583 E76.2 #253200 ARSB deficiency ASB deficiency Arylsulfatase B deficiency MPS6 MPSVI Maroteaux-Lamy disease N-acetylgalactosamine 4-sulfatase deficiency
Mucopolysaccharidosis type 6, rapidly progressing (MPS6, rapidly progressing) ORPHA276212 E76.2 Arylsulfatase B deficiency, rapidly progressing MPS6, rapidly progressing MPSVI, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing (MPS6, slowly progressing) ORPHA276223 E76.2 Arylsulfatase B deficiency, slowly progressing MPS6, slowly progressing MPSVI, slowly progressing
Mucopolysaccharidosis type 7 (MPS) GUSB ORPHA584 E76.2 #253220 Beta-glucuronidase deficiency Mucopolysaccharidosis type VII Sly disease; GUSB deficency
Sanfilippo syndrome type B (MPS) NAGLU ORPHA79270 E76.2 #252920 Mucopolysaccharidosis type 3B Mucopolysaccharidosis type IIIB N-acetyl-alpha-glucosaminidase deficiency
Sanfilippo syndrome type C (MPS) HGSNAT ORPHA79271 E76.2 #252930 HGSNAT deficiency Heparan-alpha-glucosaminide N-acetyltransferase deficiency Mucopolysaccharidosis type 3C Mucopolysaccharidosis type IIIC
Sanfilippo syndrome type D (MPS) GNS ORPHA79272 E76.2 #252940 GNS deficiency Glucosamine N-acetyl-6-sulfatase deficiency Mucopolysaccharidosis type 3D Mucopolysaccharidosis type IIID
Scheie syndrome (MPS1S) IDUA ORPHA93474 E76.03 #607016 mucopolysaccharidosis type IS; MPS1-S mucopolysaccharidosis type V, formerly MPS V, formerly; MPS5, formerly