ErkrankungGM1-Gangliosidose Typ I-II, Differentialdiagnose

NGS +

• Alias: Beta-galactosidase-1 deficiency
• Alias: Infantile GM1 gangliosidosis
• Alias: Landing disease, Norman-Landing disease
• Allelic: Lewy body dementia, susceptibility to (GBA)
• Allelic: Macular dystrophy with central cone involvement (MFSD8)
• Allelic: Parkinson disease, late-onset, susceptibility to (GBA)
• Allelic: Spinocerebellar ataxia, AR 7 (TPP1)
• Alexander disease (GFAP)
• Canavan disease (ASPA)
• Ceroid lipofuscinosis, neuronal, 1 (PPT1)
• Ceroid lipofuscinosis, neuronal, 10 (CTSD)
• Ceroid lipofuscinosis, neuronal, 2 (TPP1)
• Ceroid lipofuscinosis, neuronal, 3 (CLN3)
• Ceroid lipofuscinosis, neuronal, 5 (CLN5)
• Ceroid lipofuscinosis, neuronal, 6 (CLN6)
• Ceroid lipofuscinosis, neuronal, 7 (MFSD8)
• Ceroid lipofuscinosis, neuronal, 8 (CLN8)
• Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant (CLN8)
• Ceroid lipofuscinosis, neuronal, Kufs type, adult onset (CLN6)
• Combined oxidative phosphorylation deficiency 29 (TXN2)
• GM1-gangliosidosis, type I-III (GLB1)
• GM2-gangliosidosis, AB variant (GM2A)
• GM2-gangliosidosis, several forms (HEXA)
• Galactosialidosis (CTSA)
• Gaucher disease, perinatal lethal (GBA)
• Gaucher disease, type I, II, III + IIIC (GBA)
• Hex A pseudodeficiency (HEXA)
• Krabbe disease (GALC)
• Mucolipidosis II alpha/beta (GNPTAB)
• Mucolipidosis III alpha/beta (GNPTAB)
• Mucopolysaccharidosis IVA (GALNS)
• Mucopolysaccharidosis type IVB, Morquio (GLB1)
• Niemann-Pick disease, type A (SMPD1)
• Niemann-Pick disease, type B (SMPD1)
• Sandhoff disease, infantile, juvenile, + adult forms (HEXB)
• Sialidosis, type I (NEU1)
• Sialidosis, type II (NEU1)
• Spinocerebellar ataxia 27 (FGF14)
• Spinocerebellar ataxia 7 (ATXN7_CAG)
• Spinocerebellar ataxia; mild ID, seizures, episodic pain [panelapp] (MTCL1)
• Tay-Sachs disease (HEXA)