IllnessMitochondrial diseases, complex IV deficiency; differential diagnosis

MP3356_DH

illness_ClinicalComment_MP3356

• Alias: Cytochrom-c-Oxidase-Mangel
• Charcot-Marie-Tooth disease, recessive intermediate D (COX6A1)
• Charcot-Marie-Tooth disease, type 4K (SURF1)
• Exocrine pancreatic insufficiency, dyserythropoietic anemia + calvarial hyperostosis (COX4I2)
• Leigh syndrome (SQOR)
• Linear skin defects with multiple congenital anomalies 2 (COX7B)
• Mitochondrial complex IV deficiency (COX8A)
• Mitochondrial complex IV deficiency, nuclear type 1 (SURF1)
• Mitochondrial complex IV deficiency, nuclear type 10 (COX14)
• Mitochondrial complex IV deficiency, nuclear type 11 (COX20)
• Mitochondrial complex IV deficiency, nuclear type 12 (PET100)
• Mitochondrial complex IV deficiency, nuclear type 13 (COA6)
• Mitochondrial complex IV deficiency, nuclear type 16 (COX4I1)
• Mitochondrial complex IV deficiency, nuclear type 17 (COA8)
• Mitochondrial complex IV deficiency, nuclear type 2 (SCO2)
• Mitochondrial complex IV deficiency, nuclear type 20 (COX5A)
• Mitochondrial complex IV deficiency, nuclear type 21 (NDUFA4)
• Mitochondrial complex IV deficiency, nuclear type 3 (COX10)
• Mitochondrial complex IV deficiency, nuclear type 4 (SCO1)
• Mitochondrial complex IV deficiency, nuclear type 5 [French-Canadian] (LRPPRC)
• Mitochondrial complex IV deficiency, nuclear type 6 (COX15)
• Mitochondrial complex IV deficiency, nuclear type 7 (COX6B1)
• Mitochondrial complex IV deficiency, nuclear type 8 (TACO1)
• Mitochondrial complex IV, deficiency, nuclear type 9 (COA5)
• Myopia 6 (SCO2)
• Spinocerebellar ataxia, AR, with axonal neuropathy 3 (COA7)