Klinische FragestellungMukolipidosen, Differentialdiagnosen

NGS +

Gruppe von Erkrankungen

• Alias: Achondrogenesis, Langer-Saldino type (COL2A1)
• Alias: Hypochondrogenesis (COL2A1)
• Alias: Infantile sialidosis, formerly called sialidosis II or mucolipidosis I
• Alias: Mucolipidosis III, complementation group C
• Alias: Sialolipidosis, type I + II
• Allelic: Avascular necrosis of the femoral head (COL2A1)
• Allelic: Carpal tunnel syndrome 2 (COMP)
• Allelic: Intervertebral disc disease, susceptibility to (COL9A3)
• Allelic: Osteoarthritis susceptibility 2 (MATN)
• Allelic: Vitreoretinopathy with phalangeal epiphyseal dysplasia (COL2A1)
• Achondrogenesis Ib (SLC26A2)
• Achondrogenesis type II or hypochondrogenesis (COL2A1)
• Atelosteogenesis, type II (SLC26A2)
• Czech dysplasia (COL2A1)
• De la Chapelle dysplasia (SLC26A2)
• Diastrophic dysplasia (SLC26A2)
• Diastrophic dysplasia, broad bone-platyspondylic variant (SLC26A2)
• Epiphyseal dysplasia, multiple, 1 (COMP)
• Epiphyseal dysplasia, multiple, 2 (COL9A2)
• Epiphyseal dysplasia, multiple, 3, with/-out myopathy (COL9A3)
• Epiphyseal dysplasia, multiple, 4 (SLC26A2)
• Epiphyseal dysplasia, multiple, 5 (MATN)
• Epiphyseal dysplasia, multiple, 6 (COL9A1)
• Epiphyseal dysplasia, multiple, myopia + deafness (COL2A1)
• GM1-gangliosidosis, type I, II, III (GLB1)
• Galactosialidosis (CTSA)
• Kniest dysplasia (COL2A1)
• Legg-Calve-Perthes disease (COL2A1)
• Mannosidosis, alpha-, types I + II (MAN2B1)
• Mucolipidosis II alpha/beta + III alpha/beta (GNPTAB)
• Mucolipidosis III gamma (GNPTG)
• Mucolipidosis III, [Iranian] variant form (GNPTG)
• Mucolipidosis IV (MCOLN1)
• Mucopolysaccharidosis II (IDS)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis IVB, Morquio (GLB1)
• Mucopolysaccharidosis Ih (IDUA)
• Mucopolysaccharidosis Ih/s (IDUA)
• Mucopolysaccharidosis Is (IDUA)
• Mucopolysaccharidosis VI, Maroteaux-Lamy (ARSB)
• Mucopolysaccharidosis VII (GUSB)
• Multiple sulfatase deficiency (SUMF1)
• Osteoarthritis with mild chondrodysplasia (COL2A1)
• Platyspondylic skeletal dysplasia, Torrance type (COL2A1)
• Progressive pseudorheumatoid dysplasia (CCN6)
• Pseudoachondroplasia (COMP)
• SED congenita (COL2A1)
• SMED Strudwick type (COL2A1)
• Salla disease (SLC17A5)
• Sialic acid storage disorder, infantile (SLC17A5)
• Sialidosis, type I + II (NEU1)
• Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type (MATN)
• Spondyloepiphyseal dysplasia, Stanescu type (COL2A1)
• Spondyloperipheral dysplasia (COL2A1)
• Stickler syndrome, type I (COL2A1)
• Stickler syndrome, type I, nonsyndromic ocular (COL2A1)
• Stickler syndrome, type IV (COL9A1)
• Stickler syndrome, type V (COL9A2)