ErkrankungMDS - mtDNA-Depletionssyndrome, Differentialdiagnose

NGS +

[Sanger]

• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Optic atrophy 5 (DNM1L)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Seckel syndrome 8 (DNA2)
• Behr syndrome (OPA1)
• Charcot-Marie-Tooth disease, axonal, type 2A2B + 2A2A (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• GABA-transaminase deficiency (ABAT)
• Hereditary motor + sensory neuropathy VIA (MFN2)
• 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 16B, neuroophthalmic 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 [encephalomyopathy +/- methylmalonic aciduria] (SUCLA2)
• Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
• Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
• Mitochondrial DNA depletion syndrome 8A [encephalomyopathic type 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, with congenital cataract + developmental delay (GFER)
• Optic atrophy 1 (OPA1)
• Optic atrophy plus syndrome (OPA1)
• 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 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, AD 1 (POLG)
• Sengers syndrome (AGK)
• Spastic ataxia 5, AR (AFG3L2)
• mtDNA depletion [panelapp amber] (LIG3)
• mtDNA depletion syndrome 10 [panelapp red] (AGK)