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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
AGK1269AR
BOLA3324AR
COQ21266AD und/oder AR
COQ4798AR
COQ61407AR
COQ9957AR
DGUOK834AR
DLD1530AR
ECHS1873AR
ETFDH1854AR
FBXL41866AR
GFER618AR
IBA571071AR
ISCA2183AR
MPV17531AR
NFU1765AR
OPA12883AD und/oder AR und/oder Mult
PDHA11173XLD
PDSS11248AR
PDSS21200AR
POLG3720AD und/oder AR
RRM2B1272AD und/oder AR
SLC25A4897AD und/oder AR
SPG72388AD und/oder AR
SUCLG11041AR
TK2705AR
AARS22958AR
ACAD91866AR
ACO22343AR
AIFM11842XLR
ATPAF2870AR
AUH1020AR
BCS1L1260AR
CARS21695AR
CLPB2034AR
COX101332AR und/oder Mi
COX14174AR und/oder Mi
COX151167AR
COX20357AR und/oder Mi
COX6B1261AR und/oder Mi
CPS14503AR
CPT1A2322AR
CYC1978AR
DARS21938AR
DLAT1944AR
DNAJC19351AR
DNM1L2211AD und/oder AR
EARS21572AR
ETFA1002AR
ETFB768AR
ETHE1765AR
FARS21356AR
FASTKD22133AR und/oder Mi
FOXRED11461AR
GARS12220AD
GFAP1299AD
GFM12256AR
GFM22436AR
GTPBP31575AR
HADHA2292AR
HADHB1425AR
LIAS990AR
LIPT11122AR
LRPPRC4185AR
LYRM7315AR
MARS21782AR
MFF1029AR
MICU11437AR
MPC1201AR
MRPL31047AR
MRPS16414AR
MRPS221083AR
MTFMT1170AR
MTO12079AR
NADK21329AR
NARS21434AR
NDUFA1213XLR
NDUFA101068AR
NDUFA11687AR
NDUFA12438AR
NDUFA2300AR
NDUFA4246AR
NDUFA91134AR
NDUFAF1984AR
NDUFAF2510AR
NDUFAF3555AR
NDUFAF4528AR
NDUFAF5954AR
NDUFAF61002AR
NDUFB3297AR
NDUFB9372AR
NDUFS12184AR
NDUFS21374AR
NDUFS3795AR
NDUFS4528AR
NDUFS6375AR
NDUFS7642AR
NDUFS8633AR
NDUFV11368AR
NDUFV2750AR
NUBPL672AR
PANK21713AR
PARS21428AR
PC3537AR
PDHB1080AR
PDHX1506AR
PDP11689AR
PET100222AR und/oder Mi
PNPT12352AD und/oder AR
PTRH2540AR
PUS11284AR
RARS21737AR
RMND11350AR
SARS21563AR
SCO1906AR und/oder Mi
SCO2801AD und/oder AR
SDHA1995AD und/oder AR und/oder Sus
SDHAF1348AR
SDHD480AD und/oder AR und/oder Sus
SERAC11965AR
SFXN41014AR
SLC19A21494AR
SLC19A31491AR
SLC22A51674AR und/oder Mult
SLC25A122037AR
SLC25A19963AR
SLC25A20906AR
SLC25A22972AR
SLC25A31086AR
SLC33A11650AD und/oder AR
SLC6A81908XLR
STXBP11812AD
SUCLA21392AR
SURF1903AR
TACO1894AR und/oder Mi
TAFAZZIN879XLR
TARS21911AR
TIMM8A294XLR
TMEM70324AR
TPK1585AR
TRIT11404AR
TRMU1266AR
TSFM1041AR
TTC19822AR
TUFM1368AR
TYMP1449AR
UQCRB240AR
UQCRC21362AR
UQCRQ249AR
VARS22772AR
WFS12673AD 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

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