Additional Disease Briefs
MIT family translocation renal cell carcinoma
Also known as: carcinoma associated with MITF/TFE translocation, translocation renal cell carcinoma
mitochondrial complex I deficiency
Also known as: NADH coenzyme Q reductase deficiency, complex 1 mitochondrial respiratory chain deficiency, isolated NADH-CoQ reductase deficiency, isolated NADH-coenzyme Q reductase deficiency, isolated NADH-ubiquinone reductase deficiency, isolated complex I deficiency, isolated mitochondrial respiratory chain complex I deficiency
mitochondrial complex II deficiency, nuclear type 1
Also known as: complex 2 mitochondrial respiratory chain deficiency, isolated mitochondrial respiratory chain complex II deficiency, isolated succinate-CoQ reductase deficiency, isolated succinate-coenzyme Q reductase deficiency, isolated succinate-ubiquinone reductase deficiency, mitochondrial complex 2 deficiency, mitochondrial complex II deficiency, mitochondrial complex II deficiency, nuclear type 1, mitochondrial respiratory chain complex II deficiency, succinate CoQ reductase deficiency, succinate dehydrogenase deficiency
mitochondrial complex III deficiency nuclear type 1
Also known as: BCS1L mitochondrial complex III deficiency, Complex 3 mitochondrial respiratory chain deficiency, MC3DN1, mitochondrial Complex 3 deficiency, nuclear type 1, mitochondrial complex III deficiency, mitochondrial complex III deficiency caused by mutation in BCS1L, mitochondrial complex III deficiency, nuclear type 1
mitochondrial complex V (ATP synthase) deficiency nuclear type 2
Also known as: 3-MGCA type IV (3-MGCA-4) (formerly), MC5DN2, TMEM70 defect, TMEM70-related mitochondrial encephalo-cardio-myopathy, encephalocardiomyopathy, mitochondrial, neonatal, due to ATP synthase deficiency, mitochondrial Complex 5 (ATP synthase) deficiency, Tmem70 type, mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 2, mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency, mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency, neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
mitochondrial DNA deletion syndrome with progressive myopathy
Also known as: PEOA6, mitochondrial DNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with limb-girdle weakness, mtDNA deletion syndrome with progressive myopathy, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 6, progressive external ophthalmoplegia, autosomal dominant 6
mitochondrial DNA depletion syndrome
Also known as: mtDNA depletion syndrome
mitochondrial DNA depletion syndrome 11
Also known as: MGME1 mitochondrial DNA depletion syndrome, MTDPS11, PEO-myopathy-emaciation syndrome, mitochondrial DNA depletion syndrome 11, mitochondrial DNA depletion syndrome caused by mutation in MGME1, mitochondrial DNA depletion syndrome type 11, mitochondrial DNA maintenance syndrome due to MGME1 deficiency, mtDNA maintenance syndrome due to MGME1 deficiency, progressive external ophthalmoplegia-myopathy-emaciation syndrome