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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)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
  • Gewebeprobe
Diagnostische Hinweise

NGS +

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
ACAD91866AR
FOXRED11461AR
NDUFA1213XLR
NDUFA101068AR
NDUFA11687AR
NDUFA2300AR
NDUFA6387AR
NDUFA91134AR
NDUFAF1984AR
NDUFAF2510AR
NDUFAF3555AR
NDUFAF4528AR
NDUFAF5954AR
NDUFAF61002AR
NDUFB11462XL and/or XLD
NDUFB3297AR
NDUFB8561AR
NDUFS12184AR
NDUFS21374AR
NDUFS3795AR
NDUFS4528AR
NDUFS6375AR
NDUFS7642AR
NDUFS8633AR
NDUFV11368AR
NDUFV2750AR
NUBPL672AR
MTFMT1170AR
NDUFA12438AR
NDUFA13435AR
NDUFA3255n.k.
NDUFA5351n.k.
NDUFA7342AR
NDUFA8519n.k.
NDUFAB1471n.k.
NDUFAF71032n.k.
NDUFAF8228AR
NDUFB1177n.k.
NDUFB10519AR
NDUFB2402n.k.
NDUFB4363AR
NDUFB5632n.k.
NDUFB6294n.k.
NDUFB7414n.k.
NDUFB9372AR
NDUFC1231n.k.
NDUFC2267AR
NDUFS5321AR
NDUFV3327n.k.
TIMMDC1865AR
TMEM126B724AR

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 and/or XLD
  • XLR
  • n.k.
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G31.81

Bioinformatik und klinische Interpretation

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