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)
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
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ABAT | 1503 | AR | |
AFG3L2 | 2394 | AD und/oder AR | |
AGK | 1269 | AR | |
ANO10 | 1983 | AR | |
APTX | 1029 | AR | |
COQ2 | 1266 | AD und/oder AR | |
COQ4 | 798 | AR | |
COQ6 | 1407 | AR | |
COQ9 | 957 | AR | |
DGUOK | 834 | AR | |
DNA2 | 3183 | AD und/oder AR | |
ETFDH | 1854 | AR | |
FBXL4 | 1866 | AR | |
GFER | 618 | AR | |
MFN2 | 2274 | AD und/oder AR und/oder Dig und/oder Sus | |
MGME1 | 1035 | AR | |
MPV17 | 531 | AR | |
OPA1 | 2883 | AD und/oder AR und/oder Mult | |
PDSS1 | 1248 | AR | |
PDSS2 | 1200 | AR | |
POLG | 3720 | AD und/oder AR | |
RNASEH1 | 869 | AR | |
RRM2B | 1272 | AD und/oder AR | |
SLC25A21 | 897 | AR | |
SLC25A4 | 897 | AD und/oder AR | |
SPG7 | 2388 | AD und/oder AR | |
SUCLA2 | 1392 | AR | |
SUCLG1 | 1041 | AR | |
TFAM | 645 | AR | |
TK2 | 705 | AR | |
TWNK | 2055 | AD und/oder AR | |
TYMP | 1449 | AR | |
UTRN | 10302 | n.k. | |
BCS1L | 1260 | AR | |
BTD | 1572 | AR | |
CLPB | 2034 | AR | |
COQ8A | 1944 | AR | |
COX10 | 1332 | AR und/oder Mi | |
COX15 | 1167 | AR | |
COX8A | 212 | AR | |
DLAT | 1944 | AR | |
DLD | 1530 | AR | |
EARS2 | 1572 | AR | |
ECHS1 | 873 | AR | |
ETHE1 | 765 | AR | |
FARS2 | 1356 | AR | |
FOXRED1 | 1461 | AR | |
GFM1 | 2256 | AR | |
GFM2 | 2436 | AR | |
GTPBP3 | 1575 | AR | |
HIBCH | 1161 | AR | |
IARS2 | 3039 | AR | |
LIAS | 990 | AR | |
LIPT1 | 1122 | AR | |
LRPPRC | 4185 | AR | |
MFF | 1029 | AR | |
MRPS34 | 749 | AR | |
MTFMT | 1170 | AR | |
MTRFR | 501 | AR | |
NARS2 | 1434 | AR | |
NDUFA10 | 1068 | AR | |
NDUFA12 | 438 | AR | |
NDUFA2 | 300 | AR | |
NDUFA4 | 246 | AR | |
NDUFA9 | 1134 | AR | |
NDUFAF2 | 510 | AR | |
NDUFAF4 | 528 | AR | |
NDUFAF5 | 954 | AR | |
NDUFAF6 | 1002 | AR | |
NDUFAF8 | 228 | AR | |
NDUFS1 | 2184 | AR | |
NDUFS2 | 1374 | AR | |
NDUFS3 | 795 | AR | |
NDUFS4 | 528 | AR | |
NDUFS7 | 642 | AR | |
NDUFS8 | 633 | AR | |
NDUFV1 | 1368 | AR | |
NDUFV2 | 750 | AR | |
NUBPL | 672 | AR | |
PDHB | 1080 | AR | |
PDHX | 1506 | AR | |
PET100 | 222 | AR und/oder Mi | |
PET117 | 248 | AR | |
PNPT1 | 2352 | AD und/oder AR | |
POLG2 | 1458 | AD und/oder AR | |
PTCD3 | 2111 | AR | |
SCO2 | 801 | AD und/oder AR | |
SDHA | 1995 | AD und/oder AR und/oder Sus | |
SDHAF1 | 348 | AR | |
SERAC1 | 1965 | AR | |
SLC19A3 | 1491 | AR | |
SLC25A19 | 963 | AR | |
SLC25A46 | 1257 | AR | |
SLC39A8 | 1645 | AR | |
SQOR | 1366 | AR | |
SURF1 | 903 | AR | |
TACO1 | 894 | AR und/oder Mi | |
TIMMDC1 | 865 | AR | |
TPK1 | 585 | AR | |
TRMU | 1266 | AR | |
TSFM | 1041 | AR | |
TTC19 | 822 | AR | |
UQCRQ | 249 | AR |
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