Klinische FragestellungMitochondriale Erkrankungen, Komplex I-Defizienz; Differentialdiagnose

NGS +

• 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)