IllnessEnzephalopathy, mitochondrial; differential diagnosis

NGS +

[[Sanger]]

Heterogenous group of diseases, clinically, genetically + biochemically, caused by defects in the oxidative phosphorylation pathway of the mitochondrial respiratory chain

• Allelic: Cataract 38, AR (AGK)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
• Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
• Allelic: Hereditary motor + sensory neuropathy VIA (MFN2)
• Allelic: Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, AD (SLC25A4)
• Allelic: Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type, AR (SLC25A4)
• Allelic: Mitochondrial DNA depletion syndrome 2, myopathic type (TK2)
• Allelic: Multiple system atrophy, susceptibility to (COQ2)
• Allelic: Optic atrophy 1 (OPA1)
• Allelic: Perrault syndrome 5 (TWNK)
• Allelic: Portal hypertension, noncirrhotic, 1 (DGUOK)
• Ataxia, early-onset, with oculomotor apraxia + hypoalbuminemia (APTX)
• Behr syndrome (OPA1)
• Bjornstad syndrome (BCS1L)
• Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (SCO2)
• Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (COX15)
• Cardiomyopathy, dilated, 1GG (SDHA)
• Coenzyme Q10 deficiency, primary, 1 (COQ2)
• Coenzyme Q10 deficiency, primary, 2 (PDSS1)
• Coenzyme Q10 deficiency, primary, 3 (PDSS2)
• Coenzyme Q10 deficiency, primary, 4 (COQ8A)
• Coenzyme Q10 deficiency, primary, 5 (COQ9)
• Coenzyme Q10 deficiency, primary, 6 (COQ6)
• Coenzyme Q10 deficiency, primary, 7 (COQ4)
• Combined oxidative phosphorylation deficiency 15 (MTFMT)
• Dihydrolipoamide dehydrogenase deficiency (DLD)
• Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission included
• GABA-transaminase deficiency (ABAT)
• GRACILE syndrome (BCS1L)
• Glutaric acidemia IIC (ETFDH)
• Leber hereditary optic neuropathy, AR (DNAJC30)
• Leigh syndrome (BCS1L, COX10, SDHA)
• Leigh syndrome due to cytochrome c oxidase deficiency (COX15)
• Leigh syndrome, due to COX IV deficiency (SURF1)
• Mitochondrial DNA depletion syndrome 11 (MGME1)
• Mitochondrial DNA depletion syndrome 11 (POLG2)
• 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 3, hepatocerebral type (DGUOK)
• Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
• Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
• 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 (RRM21B)
• Mitochondrial DNA depletion syndrome 8B, MNGIE type (RRM21B)
• Mitochondrial DNA depletion syndrome 9, encephalomyopathic type with methylmalonic aciduria (SUCLG1)
• Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
• Mitochondrial complex I deficiency, nuclear type 13 (NDUFA2)
• Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)
• Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6)
• Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
• Mitochondrial complex I deficiency, nuclear type 22 (NDUFA10)
• Mitochondrial complex I deficiency, nuclear type 23 (NDUFA12)
• Mitochondrial complex I deficiency, nuclear type 26 (NDUFA9)
• Mitochondrial complex I deficiency, nuclear type 27 (MTFMT)
• Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7)
• Mitochondrial complex I deficiency, nuclear type 31 (NDUFS1)
• Mitochondrial complex I deficiency, nuclear type 8 (NDUFS3)
• Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
• Mitochondrial complex IV deficiency (COX10)
• Mitochondrial complex IV deficiency (PDHA1)
• Mitochondrial complex IV deficiency (TACO1)
• Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
• Mitochondrial respiratory chain complex II deficiency (SDHA)
• Multiple mitochondrial dysfunctions syndrome 1 (NFU1)
• Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia (BOLA3)
• Multiple mitochondrial dysfunctions syndrome 3 (IBA57)
• Multiple mitochondrial dysfunctions syndrome 4 (ISCA2)
• Myopathy, mitochondrial progressive, with congenital cataract + developmental delay (GFER)
• Nephrotic syndrome, type 9 (COQ8B)
• Optic atrophy 12 (AFG3L2)
• Optic atrophy plus syndrome (OPA1)
• Paragangliomas 5 (SDHA)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, 3 (TWNK)
• Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
• 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, AD 1 (POLG)
• Progressive external ophthalmoplegia, AR1 (POLG)
• Pyruvate dehydrogenase E1-alpha deficiency (PDHA1)
• Seckel syndrome 8 (DNA2)
• Sengers syndrome (AGK)
• Spastic ataxia 5, AR (AFG3L2)
• Spastic paraplegia 7, AR (SPG7)
• Spinocerebellar ataxia 28 (AFG3L2)
• Spinocerebellar ataxia, AR 10 (ANO10)