Mitochondrial Diseases

Disorders (Clinical Genetic Information)

Cardiomyopathy, mitochondrial AARS2, ACAD9, AGK, COX15, MGME1, MT-ATP6, MT-ATP8, mtDNA tRNA, MTO1, SCO2, SDHA, SLC25A3, TAZ, TMEM70
Coenzym Q10 Deficiency ADCK3, APTX, COQ2, COQ6, COQ9, ETFDH, PDSS1, PDSS2
Deletion of mitchondrial DNA C10orf2, MGME1, mtDNA deletion (Blot), mtDNA deletion (PCR), OPA1, POLG, POLG2, SLC25A4, SPG7, TYMP
Depletion of mitchondrial DNA C10orf2, DGUOK, MGME1, MPV17, mtDNA depletion, POLG, RRM2B, SUCLA2, SUCLG1, TK2
Infantile (Hepato)encephalopathy C10orf2, DGUOK, MGME1, MPV17, mtDNA depletion, POLG, RRM2B, SUCLA2, SUCLG1, TK2
Kearns-Sayre Syndrome (KSS), Chronic Progressive Ophthalmoplegia (CPEO) C10orf2, MGME1, mtDNA deletion (Blot), mtDNA deletion (PCR), OPA1, POLG, POLG2, RRM2B, SLC25A4, TK2
Leigh / Leigh-like Syndrome ACAD9, BCS1L, C12orf65, COX10, COX15, COX6B1, ETHE1, FASTKD2, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, NDUFA1, NDUFA11, NDUFA8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, PDHA1, PDHX, SCO1, SCO2, SDHA, SDHAF1, SURF1, TACO1, TMEM70, TTC19
Mitochondrial Respiratory Chain Deficiencies ACAD9, C10orf2, CHKB, COX10, COX15, DGUOK, ETHE1, FASTKD2, ISCU, MPV17, MT-ATP6, MT-ATP8, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, mtDNA tRNA, NDUFA1, NDUFA11, NDUFA8, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, OPA1, PDHA1, PDHX, POLG, POLG2, RRM2B, SCO1, SCO2, SDHA, SDHAF1, SLC25A3, SLC25A4, SUCLA2, SUCLG1, SURF1, TACO1, TK2, TMEM70, TTC19, TYMP
Mitochondrial Translation Defect AARS2, DARS2, EARS2, GFM1, MRPS16, mtDNA deletion (Blot), mtDNA deletion (PCR), mtDNA depletion, MTFMT, MTO1, PUS1, TRMU, TSFM, TUFM, YARS2
Myoclonus Epilepsy with Ragged Red Fibers (MERRF) MT-TK, mtDNA tRNA, mtDNA deletion (Blot), mtDNA deletion (PCR), POLG
Myopathy, mitochondrial CHKB, ETFDH, ISCU, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, mtDNA tRNA, mtDNA deletion (Blot), mtDNA deletion (PCR), mtDNA sequence analysis,complete
Neuropathy, Ataxia, Retinitis pigmentosa (NARP) MT-ATP6, MT-ATP6 (m.8993T>C/G), MT-ATP8
Pearson Syndrome mtDNA deletion (Blot), mtDNA deletion (PCR)
Rhabdomyolysis ACADVL, CPT2, ETFA, ETFB, ETFDH, LPIN1, MT-CO1, MT-CO2, MT-CO3, MT-CYB, MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND4L, MT-ND5, MT-ND6, mtDNA tRNA
Wolfram Syndrome CISD2, WFS1