ErkrankungEnzephalopathie, mitochondriale; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Enzephalopathie, mitochondriale 26 bzw. 151 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
EP0710
Anzahl Gene
151
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
32,7 kb (Core-/Basis-Gene)
192,3 kb (Erweitertes Panel)
192,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
NGS +
[[Sanger]]
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
AGK | 1269 | AR | |
BOLA3 | 324 | AR | |
COQ2 | 1266 | AD und/oder AR | |
COQ4 | 798 | AR | |
COQ6 | 1407 | AR | |
COQ9 | 957 | AR | |
DGUOK | 834 | AR | |
DLD | 1530 | AR | |
ECHS1 | 873 | AR | |
ETFDH | 1854 | AR | |
FBXL4 | 1866 | AR | |
GFER | 618 | AR | |
IBA57 | 1071 | AR | |
ISCA2 | 183 | AR | |
MPV17 | 531 | AR | |
NFU1 | 765 | AR | |
OPA1 | 2883 | AD und/oder AR und/oder Mult | |
PDHA1 | 1173 | XLD | |
PDSS1 | 1248 | AR | |
PDSS2 | 1200 | AR | |
POLG | 3720 | AD und/oder AR | |
RRM2B | 1272 | AD und/oder AR | |
SLC25A4 | 897 | AD und/oder AR | |
SPG7 | 2388 | AD und/oder AR | |
SUCLG1 | 1041 | AR | |
TK2 | 705 | AR | |
AARS2 | 2958 | AR | |
ACAD9 | 1866 | AR | |
ACO2 | 2343 | AR | |
AIFM1 | 1842 | XLR | |
ATPAF2 | 870 | AR | |
AUH | 1020 | AR | |
BCS1L | 1260 | AR | |
CARS2 | 1695 | AR | |
CLPB | 2034 | AR | |
COX10 | 1332 | AR und/oder Mi | |
COX14 | 174 | AR und/oder Mi | |
COX15 | 1167 | AR | |
COX20 | 357 | AR und/oder Mi | |
COX6B1 | 261 | AR und/oder Mi | |
CPS1 | 4503 | AR | |
CPT1A | 2322 | AR | |
CYC1 | 978 | AR | |
DARS2 | 1938 | AR | |
DLAT | 1944 | AR | |
DNAJC19 | 351 | AR | |
DNM1L | 2211 | AD und/oder AR | |
EARS2 | 1572 | AR | |
ETFA | 1002 | AR | |
ETFB | 768 | AR | |
ETHE1 | 765 | AR | |
FARS2 | 1356 | AR | |
FASTKD2 | 2133 | AR und/oder Mi | |
FOXRED1 | 1461 | AR | |
GARS1 | 2220 | AD | |
GFAP | 1299 | AD | |
GFM1 | 2256 | AR | |
GFM2 | 2436 | AR | |
GTPBP3 | 1575 | AR | |
HADHA | 2292 | AR | |
HADHB | 1425 | AR | |
LIAS | 990 | AR | |
LIPT1 | 1122 | AR | |
LRPPRC | 4185 | AR | |
LYRM7 | 315 | AR | |
MARS2 | 1782 | AR | |
MFF | 1029 | AR | |
MICU1 | 1437 | AR | |
MPC1 | 201 | AR | |
MRPL3 | 1047 | AR | |
MRPS16 | 414 | AR | |
MRPS22 | 1083 | AR | |
MTFMT | 1170 | AR | |
MTO1 | 2079 | AR | |
NADK2 | 1329 | AR | |
NARS2 | 1434 | AR | |
NDUFA1 | 213 | XLR | |
NDUFA10 | 1068 | AR | |
NDUFA11 | 687 | AR | |
NDUFA12 | 438 | AR | |
NDUFA2 | 300 | AR | |
NDUFA4 | 246 | AR | |
NDUFA9 | 1134 | AR | |
NDUFAF1 | 984 | AR | |
NDUFAF2 | 510 | AR | |
NDUFAF3 | 555 | AR | |
NDUFAF4 | 528 | AR | |
NDUFAF5 | 954 | AR | |
NDUFAF6 | 1002 | AR | |
NDUFB3 | 297 | AR | |
NDUFB9 | 372 | AR | |
NDUFS1 | 2184 | AR | |
NDUFS2 | 1374 | AR | |
NDUFS3 | 795 | AR | |
NDUFS4 | 528 | AR | |
NDUFS6 | 375 | AR | |
NDUFS7 | 642 | AR | |
NDUFS8 | 633 | AR | |
NDUFV1 | 1368 | AR | |
NDUFV2 | 750 | AR | |
NUBPL | 672 | AR | |
PANK2 | 1713 | AR | |
PARS2 | 1428 | AR | |
PC | 3537 | AR | |
PDHB | 1080 | AR | |
PDHX | 1506 | AR | |
PDP1 | 1689 | AR | |
PET100 | 222 | AR und/oder Mi | |
PNPT1 | 2352 | AD und/oder AR | |
PTRH2 | 540 | AR | |
PUS1 | 1284 | AR | |
RARS2 | 1737 | AR | |
RMND1 | 1350 | AR | |
SARS2 | 1563 | AR | |
SCO1 | 906 | AR und/oder Mi | |
SCO2 | 801 | AD und/oder AR | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
SDHAF1 | 348 | AR | |
SDHD | 480 | AD und/oder AR und/oder Sus | |
SERAC1 | 1965 | AR | |
SFXN4 | 1014 | AR | |
SLC19A2 | 1494 | AR | |
SLC19A3 | 1491 | AR | |
SLC22A5 | 1674 | AR und/oder Mult | |
SLC25A12 | 2037 | AR | |
SLC25A19 | 963 | AR | |
SLC25A20 | 906 | AR | |
SLC25A22 | 972 | AR | |
SLC25A3 | 1086 | AR | |
SLC33A1 | 1650 | AD und/oder AR | |
SLC6A8 | 1908 | XLR | |
STXBP1 | 1812 | AD | |
SUCLA2 | 1392 | AR | |
SURF1 | 903 | AR | |
TACO1 | 894 | AR und/oder Mi | |
TAFAZZIN | 879 | XLR | |
TARS2 | 1911 | AR | |
TIMM8A | 294 | XLR | |
TMEM70 | 324 | AR | |
TPK1 | 585 | AR | |
TRIT1 | 1404 | AR | |
TRMU | 1266 | AR | |
TSFM | 1041 | AR | |
TTC19 | 822 | AR | |
TUFM | 1368 | AR | |
TYMP | 1449 | AR | |
UQCRB | 240 | AR | |
UQCRC2 | 1362 | AR | |
UQCRQ | 249 | AR | |
VARS2 | 2772 | AR | |
WFS1 | 2673 | AD und/oder AR |
Infos zur Erkrankung
Klinischer Kommentar
Klinisch, genetisch + biochemisch heterogene Gruppe von Krankheiten verursacht durch Defekte im oxidativen Phosphorylierungsprozess der mitochondrialen Atmungskette
Synonyme
- 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)
Erbgänge, Vererbungsmuster etc.
- AD
- AD und/oder AR
- AD und/oder AR und/oder Mult
- AD und/oder AR und/oder Sus
- AR
- AR und/oder Mi
- AR und/oder Mult
- XLD
- XLR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G93.4
Bioinformatik und klinische Interpretation
Kein Text hinterlegt