Klinische FragestellungDeoxyguanosin-Kinase-Defizienz, mtDNA-Depletions-Syndrom beim Erwachsenen; Differentialdiagnose

NGS +

• Alias: DGUOK Deficiency
• Alias: DGUOK-Related Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form
• Alias: Deoxyguanosine Kinase Deficiency
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Seckel syndrome 8 (DNA2)
• Behr syndrome (OPA1)
• Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
• Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
• GABA-transaminase deficiency (ABAT)
• Hereditary motor and 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 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 12 (AFG3L2)
• Optic atrophy 5 (DNM1L)
• 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 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)
• Spastic paraplegia 7, AR (SPG7)
• Spinocerebellar ataxia 28 (AFG3L2)
• mtDNA depletion syndrome (AGK) Optic atrophy 1 (OPA1)