Mitochondriale Erkrankungen (Mitochondriopathien)
Mitochondrial kodierte Erkrankungen (Gen-Panel: 37 mitochondrial kodierte Gene)
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, MT-RNR1, MT-RNR2, MT-TA, MT-TC, MT-TD, MT-TE, MT-TF, MT-TG, MT-TH, MT-TI, MT-TK, MT-TL1, MTTL2, MT-TM, MT-TN, MT-TP, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY
Zugehörige Erkrankungen und Syndrome
LHON (Lebersche hereditäre Optikusneuropathie)
MELAS-Syndrom (Mitochondriale Myopathie mit Enzephalopathie, Laktatazidose und schlaganfallähnlichen Episoden)
MERFF-Syndrom (Myoklonusepilepsie mit ‚ragged-red-fibers)
Mitochondriale Schwerhörigkeit
Nukleär kodierte mitochondriale Erkrankungen (Gen-Panel: 301 nukleär kodierte Gene)
AARS2, ABCB7, ABHD5, ACAD9, ACADM, ACADS, ACADSB, ACADVL, ACO2, ACTG2, ADCK3, ADCK4, AFG3L2, AGK, AGL, AGRN, AIFM1, ALAS2, ALDOA, ALG14, ALG2, AMT, ANO10, APOPT1, APTX, ATP1A3, ATP5A1, ATP5E, ATP7B, ATPAF2, AUH, BCS1L, BOLA3, C10orf2, C12orf65, C19orf12, CAD, CARS2, CCDC115, CHAT, CHCHD10, CHKB, CHRNA1, CHRNB1, CHRND, CHRNE, CISD2, CLPB, CLPP, COA3, COA5, COA6, COLQ, COQ2, COQ4, COQ6, COQ7, COQ9, COX10, COX14, COX15, COX20, COX4I2, COX6B1, COX8A, CPS1, CPT1A, CPT2, CYC1, D2HGDH, DARS2, DGUOK, DLAT, DLD, DNA2, DNAJC19, DNAJC3, DNM1L, DNM2, DOK7, DPAGT1, EARS2, ECHS1, EIF2AK3, ELAC2, ENO3, EPG5, ETFA, ETFB, ETFDH, ETHE1, FARS2, FASTKD2, FBXL4, FLAD1, FOXRED1, G6PC, GAA, GARS, GBE1, GDAP1, GFAP, GFER, GFM1, GFPT1, GLDC, GTPBP3, GYG1, GYS1, HADH, HADHA, HADHB, HARS2, HIBCH, HMGCL, HMGCS2, HSD17B10, IARS2, IBA57, ISCA1, ISCA2, ISCU, KARS, KIF21A, KIF5A, LAMP2, LARS, LARS2, LDHA, LIAS, LIPT1, LIPT2, LONP1, LPIN1, LRP4, LRPPRC, LYRM4, LYRM7, MARS2, MDH2, MFF, MFN2, MGME1, MICU1, MIPEP, MPC1, MPV17, MRPL3, MRPL44, MRPS16, MRPS2, MRPS22, MRPS34, MRPS7, MTFMT, MTM1, MTO1, MTPAP, MUSK, NARS2, NBAS, NDUFA1, NDUFA10, NDUFA11, NDUFA12, NDUFA13, NDUFA2, NDUFA6, NDUFA9, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFAF6, NDUFB11, NDUFB3, NDUFB8, NDUFB9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS6, NDUFS7, NDUFS8, NDUFV1, NDUFV2, NFU1, NUBPL, OGDH, OPA1, OPA3, OTC, PANK2, PARS2, PC, PCK2, PDGFB, PDHA1, PDHB, PDHX, PDP1, PDSS1, PDSS2, PET100, PFKM, PGAM2, PGK1, PGM1, PHKA1, PHKB, PHKG2, PITRM1, PMPCA, PNPLA2, PNPT1, POLG, POLG2, PPA2, PREPL, PRKAG2, PTRH2, PUS1, PYCR2, PYGM, RAPSN, RARS2, RMND1, RNASEH1, RRM2B, RYR1, SARS2, SCO1, SCO2, SDHA, SDHAF1, SDHAF2, SDHB, SDHC, SDHD, SEPSECS, SERAC1, SFXN4, SLC16A1, SLC19A2, SLC19A3, SLC22A5, SLC25A12, SLC25A19, SLC25A20, SLC25A21, SLC25A22, SLC25A26, SLC25A3, SLC25A38, SLC25A4, SLC25A42, SLC25A46, SLC33A1, SLC6A8, SPATA5, SPG7, STAT2, SUCLA2, SUCLG1, SURF1, TACO1, TALDO1, TANGO2, TARS2, TAZ, TIMM8A, TK2, TMEM126A, TMEM126B, TMEM70, TPK1, TRIT1, TRMT10C, TRMT5, TRMU, TRNT1, TSFM, TTC19, TUBB3, TUFM, TWNK, TXN2, TYMP, UQCC2, UQCC3, UQCRB, UQCRC2, UQCRQ, VARS2, WARS2, WFS1, XPNPEP3, XRCC4 und YARS2
Zugehörige Erkrankungen und Syndrome
LHON (Lebersche hereditäre Optikusneuropathie)
MELAS-Syndrom (Mitochondriale Myopathie mit Enzephalopathie, Laktatazidose und schlaganfallähnlichen Episoden)
MERFF-Syndrom (Myoklonusepilepsie mit ‚ragged-red-fibers)
Mitochondriale Schwerhörigkeit
