ErkrankungGestörte mitochondriale DNA-Instandhaltung, Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Gestörte mitochondriale DNA-Instandhaltung / mtDNA maintenance disorders mit 25 Leitlinien-kuratierten sowie insgesamt 27 kuratierten Genen
ID
MP3354
Anzahl Gene
26
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
37,2 kb (Core-/Basis-Gene)
42,8 kb (Erweitertes Panel)
42,8 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
Diagnostische Hinweise
MP3354_DH
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ABAT | 1503 | AR | |
AFG3L2 | 2394 | AD und/oder AR | |
AGK | 1269 | AR | |
DGUOK | 834 | AR | |
DNA2 | 3183 | AD und/oder 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 | |
POLG | 3720 | AD und/oder AR | |
POLG2 | 1458 | 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 | |
DNM2 | 2613 | AD und/oder AR und/oder SMu | |
TOP3A | 3006 | AR |
Infos zur Erkrankung
Klinischer Kommentar
illness_ClinicalComment_MP3354
Synonyme
- Allelic: Optic atrophy 5 (DNM1L)
- Behr syndrome (OPA1)
- Cataract 38, AR (AGK)
- Centronuclear myopathy 1 (DNM2)
- Charcot-Marie-Tooth disease, axonal type 2M (DNM2)
- Charcot-Marie-Tooth disease, axonal, type 2A2A (MFN2)
- Charcot-Marie-Tooth disease, axonal, type 2A2B (MFN2)
- Charcot-Marie-Tooth disease, axonal, type 2EE (MPV17)
- Charcot-Marie-Tooth disease, dominant intermediate B (DNM2)
- Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 (DNM1L)
- GABA-transaminase deficiency (ABAT)
- Glaucoma, normal tension, susceptibility to (OPA1)
- Hereditary motor + sensory neuropathy VIA (MFN2)
- Lethal congenital contracture syndrome 5 (DNM2)
- Microcephaly, growth restriction + increased sister chromatid exchange 2 (TOP3A)
- Mitochondrial DNA depletion syndrome 1 [MNGIE type] (TYMP)
- Mitochondrial DNA depletion syndrome 11 (MGME1)
- Mitochondrial DNA depletion syndrome 12A [cardiomyopathic type] (SLC25A4)
- Mitochondrial DNA depletion syndrome 12B [cardiomyopathic type] (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 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] (POLG)
- Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
- Mitochondrial DNA depletion syndrome 5 [encephalomyopathic +/- methylmalonic aciduria] (SUCLA)
- Mitochondrial DNA depletion syndrome 6 [hepatocerebral type] (MPV17)
- Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
- Mitochondrial DNA depletion syndrome 8A [encephalomyopathic with renal tubulopathy] (RRM2B)
- Mitochondrial DNA depletion syndrome 8B [MNGIE type] (RRM2B)
- Mitochondrial DNA depletion syndrome 9 [encephalomyopathic type + methylmalonic aciduria] (SUCLG1)
- Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
- Myopathy, mitochondrial progressive, congenital cataract + developmental delay (GFER)
- Optic atrophy 1 (OPA1)
- Optic atrophy 12 (AFG3L2)
- Optic atrophy plus syndrome (OPA1)
- Perrault syndrome 5 (TWNK)
- Portal hypertension, noncirrhotic (DGUOK)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 2 (SLC25A4)
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
- 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 with mitochondrial DNA deletions, AR 5 (TOP3A)
- Progressive external ophthalmoplegia, AD 1 (POLG)
- Progressive external ophthalmoplegia, AR 1 (POLG)
- Seckel syndrome 8 (DNA2)
- Sengers syndrome (AGK)
- Spastic ataxia 5, AR (AFG3L2)
- Spastic paraplegia 7, AR (SPG7)
- Spinocerebellar ataxia 28 (AFG3L2)
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 SMu
- AR
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G31.81
Bioinformatik und klinische Interpretation
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