Klinische FragestellungGestörte mitochondriale DNA-Instandhaltung, Differentialdiagnose

NGS +

• Allelic: Optic atrophy 5 (DNM1L)
• Behr syndrome (OPA1)
• Cataract 38, AR (AGK)
• Centronuclear myopathy 1 (DNM2)
• Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
• Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
• Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• GABA-transaminase deficiency (ABAT)
• Glaucoma, normal tension, susceptibility to (OPA1)
• Hereditary motor + sensory neuropathy VIA (MFN2)
• Lethal congenital contracture syndrome 5 (DNM2)
• Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
• Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
• Mitochondrial DNA depletion syndrome 11 (MGME1)
• Mitochondrial DNA depletion syndrome 12A [cardiomyopathic type] (SLC25A4)
• Mitochondrial DNA depletion syndrome 12B [cardiomyopathic type] (SLC25A4)
• Mitochondrial DNA depletion syndrome 13 [encephalomyopathic type] (FBXL4)
• Mitochondrial DNA depletion syndrome 14 [encephalocardiomyopathic type] (OPA1)
• Mitochondrial DNA depletion syndrome 15 [hepatocerebral type] (TFAM)
• Mitochondrial DNA depletion syndrome 16 [hepatic type] (POLG2)
• Mitochondrial DNA depletion syndrome 18 (SLC25A21)
• Mitochondrial DNA depletion syndrome 2 [myopathic type] (TK2)
• Mitochondrial DNA depletion syndrome 3 [hepatocerebral type] (DGUOK)
• Mitochondrial DNA depletion syndrome 4A [Alpers type] (POLG)
• Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
• Mitochondrial DNA depletion syndrome 5 [encephalomyopathic +/- methylmalonic aciduria] (SUCLA)
• Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
• Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
• Mitochondrial DNA depletion syndrome 8A [encephalomyopathic with renal tubulopathy] (RRM2B)
• Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
• Mitochondrial DNA depletion syndrome 9 [encephalomyopathic type + methylmalonic aciduria] (SUCLG1)
• Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Myopathy, mitochondrial progressive, congenital cataract + developmental delay (GFER)
• Optic atrophy 1 (OPA1)
• Optic atrophy 12 (AFG3L2)
• Optic atrophy plus syndrome (OPA1)
• Perrault syndrome 5 (TWNK)
• Portal hypertension, noncirrhotic (DGUOK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 5 (RRM2B)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 6 (DNA2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 2 (RNASEH1)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 3 (TK2)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 4 (DGUOK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AR 5 (TOP3A)
• Progressive external ophthalmoplegia, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR 1 (POLG)
• Seckel syndrome 8 (DNA2)
• Sengers syndrome (AGK)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic paraplegia 7, AR (SPG7)
• Spinocerebellar ataxia 28 (AFG3L2)