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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
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IllnessEnzephalopathy, mitochondrial; differential diagnosis

Summary

Short information

Comprehensive differential diagnostic panel for encephalopathy, mitochondrial comprising 34 guideline-curated and altogether or 167 curated genes according to the clinical signs

ID
EP0710
Number of genes
151 Accredited laboratory test
Examined sequence length
32,7 kb (Core-/Core-canditate-Genes)
192,3 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[[Sanger]]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
AGK1269NM_018238.4AR
BOLA3324NM_212552.3AR
COQ21266NM_015697.9AR
COQ4798NM_016035.5AR
COQ61407NM_182476.3AR
COQ9957NM_020312.4AR
DGUOK834NM_080916.3AR
DLD1530NM_000108.5AR
ECHS1873NM_004092.4AR
ETFDH1854NM_004453.4AR
FBXL41866NM_012160.5AR
GFER618NM_005262.3AR
IBA571071NM_001010867.4AR
ISCA2183NM_194279.4AR
MPV17531NM_002437.5AR
NFU1765NM_001002755.4AR
OPA12883NM_015560.3AD, AR
PDHA11173NM_000284.4XL
PDSS11248NM_014317.5AR
PDSS21200NM_020381.4AR
POLG3720NM_002693.3AR
RRM2B1272NM_015713.5AR
SLC25A4897NM_001151.4AD, AR
SPG72388NM_003119.4AD, AR
SUCLG11041NM_003849.4AR
TK2705NM_001172643.1AR
AARS22958NM_020745.4AR
ACAD91866NM_014049.5AR
ACO22343NM_001098.3AR
AIFM11842NM_004208.4XLR
ATPAF2870NM_145691.4AR
AUH1020NM_001698.3AR
BCS1L1260NM_004328.5AR
CARS21695NM_024537.4AR
CLPB2034NM_001258392.3AR
COX101332NM_001303.4AR
COX14174NM_001257133.2AR
COX151167NM_004376.7AR
COX20357NM_198076.6AR
COX6B1261NM_001863.5AR
CPS14503NM_001122633.3AR
CPT1A2322NM_001876.4AR
CYC1978NM_001916.5AR
DARS21938NM_018122.5AR
DLAT1944NM_001931.5AR
DNAJC19351NM_145261.4AR
DNM1L2211NM_012062.5AD, AR
EARS21572NM_001083614.2AR
ETFA1002NM_000126.4AR
ETFB768NM_001985.3AR
ETHE1765NM_014297.5AR
FARS21356NM_006567.5AR
FASTKD22133NM_001136193.2AR, Mi
FOXRED11461NM_017547.4AR
GARS12220NM_002047.4AD
GFAP1299NM_002055.5AD
GFM12256NM_024996.7AR
GFM22436NM_001281302.2AR
GTPBP31575NM_133644.4AR
HADHA2292NM_000182.5AR
HADHB1425NM_000183.3AR
LIAS990NM_001278590.2AR
LIPT11122NM_001204830.2AR
LRPPRC4185NM_133259.4AR
LYRM7315NM_181705.4AR
MARS21782NM_138395.4AR
MFF1029NM_020194.5AR
MICU11437NM_006077.4AR
MPC1201NM_001270879.2AR
MRPL31047NM_007208.4AR
MRPS16414NM_016065.4AR
MRPS221083NM_020191.4AR
MTFMT1170NM_139242.4AR
MTO12079NM_012123.4AR
NADK21329NM_001085411.3AR
NARS21434NM_024678.6AR
NDUFA1213NM_004541.4XLR
NDUFA101068NM_004544.4AR
NDUFA11687NM_001193375.3AR
NDUFA12438NM_018838.5AR
NDUFA2300NM_002488.5AR
NDUFA4246NM_002489.4AR
NDUFA91134NM_005002.5AR
NDUFAF1984NM_016013.4AR
NDUFAF2510NM_174889.5AR
NDUFAF3555NM_199069.2AR
NDUFAF4528NM_014165.4AR
NDUFAF5954NM_001039375.3AR
NDUFAF61002NM_152416.4AR
NDUFB3297NM_001257102.2AR
NDUFB9372NM_001278645.2AR
NDUFS12184NM_005006.7AR
NDUFS21374NM_004550.5AR
NDUFS3795NM_004551.3AR
NDUFS4528NM_002495.4AR
NDUFS6375NM_004553.6AR
NDUFS7642NM_024407.5AR
NDUFS8633NM_002496.4AR
NDUFV11368NM_007103.4AR
NDUFV2750NM_021074.5AR
NUBPL672NM_025152.3AR
PANK21713NM_153638.4AR
PARS21428NM_152268.4AR
PC3537NM_000920.4AR
PDHB1080NM_000925.4AR
PDHX1506NM_003477.3AR
PDP11689NM_001161779.2AR
PET100222NM_001171155.2AR
PNPT12352NM_033109.5AR
PTRH2540NM_016077.5AR
PUS11284NM_025215.6AR
RARS21737NM_020320.5AR
RMND11350NM_017909.4AR
SARS21563NM_001145901.2AR
SCO1906NM_004589.4AR
SCO2801NM_005138.3AR
SDHA1995NM_004168.4AR
SDHAF1348NM_001042631.3AR
SDHD480NM_003002.4AR
SERAC11965NM_032861.4AR
SFXN41014NM_213649.2AR
SLC19A21494NM_006996.3AR
SLC19A31491NM_025243.4AR
SLC22A51674NM_003060.4AR
SLC25A122037NM_003705.5AR
SLC25A19963NM_001126121.2AR
SLC25A20906NM_000387.6AR
SLC25A22972NM_024698.6AR
SLC25A31086NM_002635.4AR
SLC33A11650NM_004733.4AD, AR
SLC6A81908NM_005629.4XLR
STXBP11812NM_003165.6AD
SUCLA21392NM_003850.3AR
SURF1903NM_003172.4AR
TACO1894NM_016360.4AR, Mi
TAFAZZIN879NM_000116.5XLR
TARS21911NM_001271895.2AR
TIMM8A294NM_004085.4XLR
TMEM70324NM_001040613.3AR
TPK1585NM_001042482.2AR
TRIT11404NM_017646.6AR
TRMU1266NM_018006.5AR
TSFM1041NM_001172696.2AR
TTC19822NM_001271420.2AR
TUFM1368NM_003321.5AR
TYMP1449NM_001953.5AR
UQCRB240NM_001199975.3AR
UQCRC21362NM_003366.4AR
UQCRQ249NM_014402.5AR
VARS22772NM_001167733.3AR
WFS12673NM_006005.3AD, AR

Informations about the disease

Clinical Comment

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

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Mi
  • XL
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G93.4

Bioinformatics and clinical interpretation

No text defined