ErkrankungMitochondriale Erkrankungen, Komplex I-Defizienz; Differentialdiagnose
Zusammenfassung
Kurzinformation
Umfassendes differentialdiagnostisches panel für Mitochondriale Erkrankungen; Komplex I-Defizienz mit 27 bzw. zusammen genommen 52 kuratierten Genen gemäß klinischer Verdachtsdiagnose
ID
MP3359
Anzahl Gene
51
Akkreditierte Untersuchung
Untersuchte Sequenzlänge
22,3 kb (Core-/Basis-Gene)
33,5 kb (Erweitertes Panel)
33,5 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
- EDTA-Blut (3-5 ml)
- Gewebeprobe
Diagnostische Hinweise
NGS +
Genpanel
Ausgewählte Gene
Name | Exon-Länge (bp) | OMIM-G | Erbgang |
---|---|---|---|
ACAD9 | 1866 | AR | |
FOXRED1 | 1461 | AR | |
NDUFA1 | 213 | XLR | |
NDUFA10 | 1068 | AR | |
NDUFA11 | 687 | AR | |
NDUFA2 | 300 | AR | |
NDUFA6 | 387 | AR | |
NDUFA9 | 1134 | AR | |
NDUFAF1 | 984 | AR | |
NDUFAF2 | 510 | AR | |
NDUFAF3 | 555 | AR | |
NDUFAF4 | 528 | AR | |
NDUFAF5 | 954 | AR | |
NDUFAF6 | 1002 | AR | |
NDUFB11 | 462 | XL und/oder XLD | |
NDUFB3 | 297 | AR | |
NDUFB8 | 561 | AR | |
NDUFS1 | 2184 | AR | |
NDUFS2 | 1374 | AR | |
NDUFS3 | 795 | AR | |
NDUFS4 | 528 | AR | |
NDUFS6 | 375 | AR | |
NDUFS7 | 642 | AR | |
NDUFS8 | 633 | AR | |
NDUFV1 | 1368 | AR | |
NDUFV2 | 750 | AR | |
NUBPL | 672 | AR | |
MTFMT | 1170 | AR | |
NDUFA12 | 438 | AR | |
NDUFA13 | 435 | AR | |
NDUFA3 | 255 | n.k. | |
NDUFA5 | 351 | n.k. | |
NDUFA7 | 342 | n.k. | |
NDUFA8 | 519 | n.k. | |
NDUFAB1 | 471 | n.k. | |
NDUFAF7 | 1032 | n.k. | |
NDUFAF8 | 228 | AR | |
NDUFB1 | 177 | n.k. | |
NDUFB10 | 519 | AR | |
NDUFB2 | 402 | n.k. | |
NDUFB4 | 363 | AR | |
NDUFB5 | 632 | n.k. | |
NDUFB6 | 294 | n.k. | |
NDUFB7 | 414 | n.k. | |
NDUFB9 | 372 | AR | |
NDUFC1 | 231 | n.k. | |
NDUFC2 | 267 | AR | |
NDUFS5 | 321 | AR | |
NDUFV3 | 327 | n.k. | |
TIMMDC1 | 865 | AR | |
TMEM126B | 724 | AR |
Infos zur Erkrankung
Synonyme
- Alias: Mt complex I deficiency, nuclear type 1-37
- Combined oxidative phosphorylation deficiency 15 (MTFMT)
- Fanconi renotubular syndrome 5 (NDUFAF6)
- Isolated complex I deficiency [panelapp] (NDUFB2)
- Isolated complex I deficiency [panelapp] (NDUFB5)
- Leber hereditary optic neuropathy, AR (DNAJC30)
- Linear skin defects with multiple congenital anomalies 3 (NDUFB11)
- Mitochondrial complex I deficiency, nuclear type 1 (NDUFS4)
- Mitochondrial complex I deficiency, nuclear type 10 (NDUFAF2)
- Mitochondrial complex I deficiency, nuclear type 11 (NDUFAF1)
- Mitochondrial complex I deficiency, nuclear type 12 (NDUFA1)
- Mitochondrial complex I deficiency, nuclear type 13 (NDUFA2)
- Mitochondrial complex I deficiency, nuclear type 14 (NDUFA11)
- Mitochondrial complex I deficiency, nuclear type 15 (NDUFAF4)
- Mitochondrial complex I deficiency, nuclear type 16 (NDUFAF5)
- Mitochondrial complex I deficiency, nuclear type 17 (NDUFAF6)
- Mitochondrial complex I deficiency, nuclear type 18 (NDUFAF3)
- 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 24 (NDUFB9)
- Mitochondrial complex I deficiency, nuclear type 25 (NDUFB3)
- Mitochondrial complex I deficiency, nuclear type 26 (NDUFA9)
- Mitochondrial complex I deficiency, nuclear type 27 (MTFMT)
- Mitochondrial complex I deficiency, nuclear type 28 (NDUFA13)
- Mitochondrial complex I deficiency, nuclear type 29 (TMEM126B)
- Mitochondrial complex I deficiency, nuclear type 3 (NDUFS7)
- Mitochondrial complex I deficiency, nuclear type 30 (NDUFB11)
- Mitochondrial complex I deficiency, nuclear type 31 (TIMMDC1)
- Mitochondrial complex I deficiency, nuclear type 32 (NDUFB8)
- Mitochondrial complex I deficiency, nuclear type 33 (NDUFA6)
- Mitochondrial complex I deficiency, nuclear type 34 (NDUFAF8)
- Mitochondrial complex I deficiency, nuclear type 35 (NDUFB10)
- Mitochondrial complex I deficiency, nuclear type 36 (NDUFC2)
- Mitochondrial complex I deficiency, nuclear type 37 (NDUFA8)
- 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 I deficiency, nuclear type 9 (NDUFS6)
- No OMIM phenotype [panelapp] (NDUFA3)
- No OMIM phenotype [panelapp] (NDUFA5)
- No OMIM phenotype [panelapp] (NDUFA7)
- No OMIM phenotype [panelapp] (NDUFAB1)
- No OMIM phenotype [panelapp] (NDUFAF7)
- No OMIM phenotype [panelapp] (NDUFB1)
- No OMIM phenotype [panelapp] (NDUFB2)
- No OMIM phenotype [panelapp] (NDUFB4)
- No OMIM phenotype [panelapp] (NDUFB5)
- No OMIM phenotype [panelapp] (NDUFB6)
- No OMIM phenotype [panelapp] (NDUFB7)
- No OMIM phenotype [panelapp] (NDUFC1)
- No OMIM phenotype [panelapp] (NDUFS5)
- No OMIM phenotype [panelapp] (NDUFV3)
- Thyroid carcinoma, Hurthle cell (NDUFA13)
Erbgänge, Vererbungsmuster etc.
- AR
- XL und/oder XLD
- XLR
- n.k.
OMIM-Ps
- Multiple OMIM-Ps
ICD10 Code
G31.81
Bioinformatik und klinische Interpretation
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