©istock.com/Andrea Obzerova
Interdisziplinäre KompetenzMolekulare Diagnostik
Know how bei der Analyse von Erbmaterial.
Zum Wohle von Patienten.

ErkrankungLeigh-Syndrom, Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für nukleäre Gene, deren Veränderungen mit Leigh-Syndrom assoziiert sind, mit 34 Leitlinien-kuratierten sowie insgesamt 104 kuratierten Genen

ID
LP0420
Anzahl Gene
103 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
57,8 kb (Core-/Basis-Gene)
141,3 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • Chorionzotten (CVS)
  • EDTA-Blut (3-5 ml)
  • Fruchtwasser (nach AC)
  • Gewebeprobe
  • Mundschleimhaut (mind. zwei Abstrichtupfer)
  • Nabelschnurblut (NB)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ABAT1503AR
AFG3L22394AD und/oder AR
AGK1269AR
ANO101983AR
APTX1029AR
COQ21266AD und/oder AR
COQ4798AR
COQ61407AR
COQ9957AR
DGUOK834AR
DNA23183AD und/oder AR
ETFDH1854AR
FBXL41866AR
GFER618AR
MFN22274AD und/oder AR und/oder Dig und/oder Sus
MGME11035AR
MPV17531AR
OPA12883AD und/oder AR und/oder Mult
PDSS11248AR
PDSS21200AR
POLG3720AD und/oder AR
RNASEH1869AR
RRM2B1272AD und/oder AR
SLC25A21897AR
SLC25A4897AD und/oder AR
SPG72388AD und/oder AR
SUCLA21392AR
SUCLG11041AR
TFAM645AR
TK2705AR
TWNK2055AD und/oder AR
TYMP1449AR
UTRN10302n.k.
BCS1L1260AR
BTD1572AR
CLPB2034AR
COQ8A1944AR
COX101332AR und/oder Mi
COX151167AR
COX8A212AR
DLAT1944AR
DLD1530AR
EARS21572AR
ECHS1873AR
ETHE1765AR
FARS21356AR
FOXRED11461AR
GFM12256AR
GFM22436AR
GTPBP31575AR
HIBCH1161AR
IARS23039AR
LIAS990AR
LIPT11122AR
LRPPRC4185AR
MFF1029AR
MRPS34749AR
MTFMT1170AR
MTRFR501AR
NARS21434AR
NDUFA101068AR
NDUFA12438AR
NDUFA2300AR
NDUFA4246AR
NDUFA91134AR
NDUFAF2510AR
NDUFAF4528AR
NDUFAF5954AR
NDUFAF61002AR
NDUFAF8228AR
NDUFS12184AR
NDUFS21374AR
NDUFS3795AR
NDUFS4528AR
NDUFS7642AR
NDUFS8633AR
NDUFV11368AR
NDUFV2750AR
NUBPL672AR
PDHB1080AR
PDHX1506AR
PET100222AR und/oder Mi
PET117248AR
PNPT12352AD und/oder AR
POLG21458AD und/oder AR
PTCD32111AR
SCO2801AD und/oder AR
SDHA1995AD und/oder AR und/oder Sus
SDHAF1348AR
SERAC11965AR
SLC19A31491AR
SLC25A19963AR
SLC25A461257AR
SLC39A81645AR
SQOR1366AR
SURF1903AR
TACO1894AR und/oder Mi
TIMMDC1865AR
TPK1585AR
TRMU1266AR
TSFM1041AR
TTC19822AR
UQCRQ249AR

Infos zur Erkrankung

Klinischer Kommentar

Spezifische neuropathologische Merkmale mit gemeinsamer Beteiligung von Hirnstamm- und Basalganglienläsionen

 

Synonyme
  • Alias: Leigh syndrome due to mitochondrial complex I-V deficiency
  • Allelic: Bjornstad syndrome (BCS1L)
  • Allelic: Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2 (COX15)
  • Allelic: Cardiomyopathy, dilated, 1GG (SDHA)
  • Allelic: Cataract 38, AR (AGK)
  • Allelic: Charcot-Marie-Tooth disease, axonal, type 2EE (MPV14)
  • Allelic: Charcot-Marie-Tooth disease, axonal, types 2A2A + 2A2B (MFN2)
  • Allelic: Charcot-Marie-Tooth disease, type 4K (SURF1)
  • Allelic: Deafness, AR 70 (PNPT1)
  • Allelic: Deafness, AR 94 (NARS2)
  • Allelic: Deafness, AR 94 (NDUFA4)
  • Allelic: Deafness, mitochondrial, modifier of (TRMU)
  • Allelic: Fanconi renotubular syndrome 5 (NDUFAF2, NDUFAF6)
  • Allelic: GRACILE syndrome (BCS1L)
  • Allelic: Glaucoma, normal tension, susceptibility to (OPA1)
  • Allelic: Hereditary motor + sensory neuropathy VIA (MFN2)
  • Allelic: Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Allelic: Liver failure, transient infantile (TRMU)
  • Allelic: Microcephaly, Amish type (SLC25A19)
  • Allelic: Multiple system atrophy, susceptibility to (COQ2)
  • Allelic: Myopia 6 (SCO2)
  • Allelic: Neuropathy, hereditary motor + sensory, type VIB (SLC25A46)
  • Allelic: Optic atrophy 1 (OPA1)
  • Allelic: Optic atrophy 12 (AFG3L2)
  • Allelic: Optic atrophy plus syndrome (OPA1)
  • Allelic: Paragangliomas 5 (SDHA)
  • Allelic: Perrault syndrome 5 (TWNK)
  • Allelic: Portal hypertension, noncirrhotic, 1 (DGUOK)
  • Allelic: Seckel syndrome 8 (DNA2)
  • Allelic: Spastic ataxia 5, AR (AFG3L2)
  • Allelic: Spinocerebellar ataxia 28 (AFG3L2)
  • 3-hydroxyisobutryl-CoA hydrolase deficiency (HIBCH)
  • 3-methylglutaconic aciduria with deafness, encephalopathy + Leigh-like syndrome (SERAC1)
  • 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement + neutropenia (CLPB)
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia (APTX)
  • Behr syndrome (OPA1)
  • Biotinidase deficiency (BTD)
  • Cataracts/growth hormone deficiency/sensory neuropathy/sensorineur. hear loss/skel. dyspl. (IARS2)
  • 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 1 (GFM1)
  • Combined oxidative phosphorylation deficiency 12 (EARS2)
  • Combined oxidative phosphorylation deficiency 13 (PNPT1)
  • Combined oxidative phosphorylation deficiency 14 (FARS2)
  • Combined oxidative phosphorylation deficiency 15 (MTFMT)
  • Combined oxidative phosphorylation deficiency 23 (GTPBT3)
  • Combined oxidative phosphorylation deficiency 24 (NARS2)
  • Combined oxidative phosphorylation deficiency 3 (TSFM)
  • Combined oxidative phosphorylation deficiency 32 (MRPS34)
  • Combined oxidative phosphorylation deficiency 39 (GFM2)
  • Combined oxidative phosphorylation deficiency 51 (PTCD3)
  • Combined oxidative phosphorylation deficiency 7 (MTRFR)
  • Combined oxidative phosphorylation deficiency 8 (AARS2)
  • Congenital disorder of glycosylation, type IIn (SLC39A8)
  • Dihydrolipoamide dehydrogenase deficiency (DLD)
  • Encephalopathy due to defective mitochondrial + peroxisomal fission 2 (MFF)
  • Ethylmalonic encephalopathy (ETHE1)
  • GABA-transaminase deficiency (ABAT)
  • Glutaric acidemia IIC (ETFDH)
  • Hyperglycinemia, lactic acidosis + seizures (LIAS)
  • Lacticacidemia due to PDX1 deficiency (PDHX)
  • Leigh syndrome (BCS1L, SDHA)
  • Leigh syndrome due to cytochrome c oxidase deficiency (COX15)
  • Leigh syndrome due to mitochondrial COX4 deficiency (COX10)
  • Leigh syndrome, due to COX IV deficiency (SURF1)
  • Lipoyltransferase 1 deficiency (LIPT1)
  • Mitochondrial DNA depletion syndrome 1, MNGIE type (TYMP)
  • Mitochondrial DNA depletion syndrome 11 (MGME1)
  • Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, AD (SLC25A4)
  • Mitochondrial DNA depletion syndrome 12B, cardiomyopathic type) AR (SLC25A4)
  • 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 16, hepatic type (POLG2)
  • Mitochondrial DNA depletion syndrome 16B, neuroophthalmic type (POLG2)
  • Mitochondrial DNA depletion syndrome 18 (SLC25A21)
  • Mitochondrial DNA depletion syndrome 2, myopathic type (TK2)
  • Mitochondrial DNA depletion syndrome 3, hepatocerebral type (DGUOK)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type + 4B, MNGIE type (POLG)
  • Mitochondrial DNA depletion syndrome 5, encephalomyopathic +/- methylmalonic aciduria (SUCLA2)
  • Mitochondrial DNA depletion syndrome 6, hepatocerebral type (MPV14)
  • Mitochondrial DNA depletion syndrome 7, hepatocerebral type (TWNK)
  • Mitochondrial DNA depletion syndrome 8A, encephalomyopathic type with renal tubulopathy (RRM2B)
  • Mitochondrial DNA depletion syndrome 8B, MNGIE type (RRM2B)
  • Mitochondrial DNA depletion syndrome 9, encephalomyopathic type + 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 15 (NDUFAF4)
  • Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)
  • Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF2, NDUFAF6)
  • Mitochondrial complex I deficiency, nuclear type 19 (FOXRED1)
  • Mitochondrial complex I deficiency, nuclear type 2 (NDUFS8)
  • Mitochondrial complex I deficiency, nuclear type 20 (ACAD9)
  • Mitochondrial complex I deficiency, nuclear type 21 (NUBPL)
  • 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 (TIMMDC1)
  • Mitochondrial complex I deficiency, nuclear type 34 (NDUFAF8)
  • Mitochondrial complex I deficiency, nuclear type 4 (NDUFV1)
  • Mitochondrial complex I deficiency, nuclear type 5 (NDUFS1)
  • Mitochondrial complex I deficiency, nuclear type 6 (NDUFS2)
  • Mitochondrial complex I deficiency, nuclear type 7 (NDUFV2)
  • Mitochondrial complex I deficiency, nuclear type 8 (NDUFS3)
  • Mitochondrial complex II deficiency, nuclear type 2 (SDHAF1)
  • Mitochondrial complex III deficiency, nuclear type 1 (BCS1L)
  • Mitochondrial complex III deficiency, nuclear type 2 (TTC19)
  • Mitochondrial complex III deficiency, nuclear type 4 (UQCRQ)
  • Mitochondrial complex IV deficiency (COX10)
  • Mitochondrial complex IV deficiency, nuclear type 12 (PET100)
  • Mitochondrial complex IV deficiency, nuclear type 15 (COX8A)
  • Mitochondrial complex IV deficiency, nuclear type 19 (PET117)
  • Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
  • Mitochondrial complex IV deficiency, nuclear type 21 (NDUFA4)
  • Mitochondrial complex IV deficiency, nuclear type 5, French-Canadian (LRPPRC)
  • Mitochondrial complex IV deficiency, nuclear type 8 (TACO1)
  • Mitochondrial recessive ataxia syndrome; includes SANDO + SCAE (POLG)
  • Mitochondrial respiratory chain complex II deficiency (SDHA)
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency (ECHS1)
  • Myopathy, mitochondrial progressive, with congenital cataract + developmental delay (GFER)
  • Pontocerebellar hypoplasia, type 1E (SLV25A46)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD (TWNK)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 4 (POLG2)
  • 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, AR 1 (POLG)
  • Pyruvate dehydrogenase E1-beta deficiency (PDHB)
  • Pyruvate dehydrogenase E2 deficiency (DLAT)
  • Sengers syndrome (AGK)
  • Spastic paraplegia 55, AR (MTRFR)
  • Spastic paraplegia 7, AR (SPG7)
  • Spastic paraplegia 77, AR (FARS2)
  • Spinocerebellar ataxia, AR 10 (ANO10)
  • Sulfide:quinone oxidoreductase deficiency (SQOR)
  • Thiamine metabolism dysfunction syndrome 2, biotin-/thiamine-responsive encephalopathy 2 (SLC19A3)
  • Thiamine metabolism dysfunction syndrome 4, progressive polyneuropathy type (SLC25A19)
  • Thiamine metabolism dysfunction syndrome 5, episodic encephalopathy type (TPK1)
Erbgänge, Vererbungsmuster etc.
  • AD und/oder AR
  • AD und/oder AR und/oder Dig und/oder Sus
  • AD und/oder AR und/oder Mult
  • AD und/oder AR und/oder Sus
  • AR
  • AR und/oder Mi
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G31.8-

Bioinformatik und klinische Interpretation

Kein Text hinterlegt