ErkrankungMukopolysaccharidosen, Differentialdiagnose II

NGS +

illness_ClinicalComment_MP0401

• Allelic: Charcot-Marie-Tooth disease, axonal, type 2V (NAGLU)
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Parkinson disease 24, AD, susceptibility to (PSAP)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Retinitis pigmentosa 73 (HGSNAT)
• Combined SAP deficiency (PSAP)
• Fabry disease (GLA)
• Fabry disease, cardiac variant (GLA)
• GM1-gangliosidosis type I-III (GLB1)
• Gaucher disease, atypical (PSAP)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III, IIIC (GBA)
• Krabbe disease, atypical (PSAP)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Metachromatic leukodystrophy due to SAP-b deficiency (PSAP)
• Mucolipidosis II alpha/beta (GNPTAB)
• Mucolipidosis III alpha/beta (GNPTAB)
• Mucolipidosis IV (MCOLN1)
• Mucopolysaccharidosis type II, Hunter syndrome (IDS)
• Mucopolysaccharidosis type IIIA, Sanfilippo A (SGSH)
• Mucopolysaccharidosis type IIIB, Sanfilippo B (NAGLU)
• Mucopolysaccharidosis type IIIC, Sanfilippo C (HGSNAT)
• Mucopolysaccharidosis type IIID, Sanfilippo syndrome D (GNS)
• Mucopolysaccharidosis type IVA (GALNS)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Mucopolysaccharidosis type IX (HYAL1)
• Mucopolysaccharidosis type Ih/s, Hurler-Scheie syndrome+ Is, Scheie syndrome (IDUA)
• Mucopolysaccharidosis type VI, Maroteaux-Lamy (ARSB)
• Mucopolysaccharidosis type VII, Sly syndrome (GUSB)
• Mucopolysaccharidosis type X (ARSK)
• Mucopolysaccharidosis-plus syndrome (VPS33A)
• Multiple sulfatase deficiency (SUMF1)
• Osteoarthritis with mild chondrodysplasia (COL2A1)
• Schimke immunoosseous dysplasia (SMARCAL1)
• Sialidosis, type I (NEU1)
• Sialidosis, type II (NEU1)
• Smith-Magenis syndrome (RAI1)
• Spondyloepiphyseal dysplasia tarda (TRAPPC2)