Supported Diseases
Adenosine monophosphate deaminase 1 deficiency
Synonyms:
AMP deaminase 1 deficiency, Myoadenylate deaminase deficiency, AMPD1 deficiency, Myopathy due to myoadenylate deaminase deficiency, MMDD, Adenosine monophosphate deaminase deficiency, AMP deaminase deficiency
Alpers syndrome
Synonyms:
Alpers disease, Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis, Alpers progressive infantile poliodystrophy, Poliodystrophia cerebri progressiva, Progressive cerebral poliodystrophy, Diffuse cerebral degeneration in infancy, Alpers-Huttenlocher syndrome, Neuronal degeneration of childhood with liver disease, progressive, PNDC, Infantile poliodystrophy
Autosomal dominant optic atrophy and cataract
Synonyms:
Optic atrophy, cataract, and neurologic disorder, Optic atrophy 3, OPA3, Autosomal dominant optic atrophy type 3, OPA3, autosomal dominant, Optic atrophy 3 with cataract
Autosomal dominant optic atrophy plus syndrome
Synonyms:
Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy, OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY, DOMINANT OPTIC ATROPHY PLUS SYNDROME, Treft-Sanborn-Carey syndrome, Optic atrophy - deafness- polyneuropathy - myopathy, Optic atrophy-deafness-polyneuropathy-myopathy syndrome
Barth syndrome
Synonyms:
BTHS, 3-methylglutaconic aciduria type II, MGA type II, Cardioskeletal myopathy with neutropenia and abnormal mitochondria, TAZ defect
Carnitine palmitoyl transferase 1A deficiency
Synonyms:
Carnitine palmitoyltransferase 1A deficiency, CPT1A deficiency, Hepatic CPT1, Hepatic carnitine palmitoyltransferase 1 deficiency, L-CPT 1 deficiency, Carnitine palmitoyl transferase IA deficiency, Hepatic carnitine palmitoyl transferase 1 deficiency, Hepatic carnitine palmitoyl transferase I deficiency, L-CPT1 deficiency, L-CPTI deficiency
Cytochrome c oxidase deficiency
Synonyms:
Mitochondrial complex IV deficiency, Complex 4 mitochondrial respiratory chain deficiency, Deficiency of mitochondrial respiratory chain complex4, COX deficiency, Complex IV deficiency
Deficiencia de LCHAD
Synonyms:
Deficiencia de 3-hidroxiacil-CoA deshidrogenasa de cadena larga, LCHADD
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Synonyms:
mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, Encephalomyopathic mitochondrial DNA depletion syndrome-13, MTDPS13, Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies, FBXL4 Deficiency, BXL4-Related Early-Onset Mitochondrial Encephalopathy
Glutaric acidemia type II
Synonyms:
Glutaric acidemia type 2, Glutaric acidemia 2, Glutaric aciduria 2, GA 2, Ethylmalonic-adipicaciduria, Multiple Acyl-CoA dehydrogenase deficiency, EMA, MADD
HIBCH deficiency
Synonyms:
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-Hydroxyisobutyryl-CoA hydrolase deficiency, Beta-hydroxyisobutyryl-CoA deacylase deficiency, Methacrylic aciduria, Methacrylic acid toxicity, Valine metabolic defect
Kearns-Sayre syndrome
Synonyms:
KSS, Ophthalmoplegia, pigmentary degeneration of retina, and cardiomyopathy, Oculocraniosomatic syndrome, Ophthalmoplegia plus syndrome, Mitochondrial cytopathy, Ophthalmoplegia, progressive external, with ragged red fibers, Chronic progressive external ophthalmoplegia with myopathy, CPEO with myopathy, CPEO with ragged red fibers
LCAD deficiency
Synonyms:
Long-chain acyl-CoA dehydrogenase deficiency, ACADL deficiency
LCHAD deficiency
Synonyms:
Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency, Long-chain 3-hydroxy acyl CoA dehydrogenase deficiency, Long-chain 3-OH acyl-CoA dehydrogenase deficiency, 3-hydroxyacyl-CoA dehydrogenase long chain deficiency
Leber hereditary optic neuropathy with dystonia
Synonyms:
LHON and dystonia, Leber optic atrophy and dystonia, LDYT, Marsden syndrome, Dystonia familial, with visual failure and striatal lucencies, Leber's hereditary optic neuropathy with dystonia
Leigh syndrome
Synonyms:
LS, Subacute necrotizing encephalopathy, SNE, Necrotizing encephalopathy infantile subacute of Leigh, Leigh's necrotizing encephalopathy, Leigh's disease, Infantile subacute necrotizing encephalopathy, Leigh disease
Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Synonyms:
Leukoencephalopathy with brain stem and spinal cord involvement - high lactate, LBSL, Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation, MITOCHONDRIAL ASPARTYL-tRNA SYNTHETASE DEFICIENCY, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Synonyms:
MCAD deficiency, Acyl-CoA dehydrogenase medium chain deficiency of, MCADH deficiency, ACADM deficiency, MCADD, Medium chain acyl CoA dehydrogenase deficiency, Medium-chain acyl-CoA dehydrogenase deficiency
MEPAN syndrome
Synonyms:
Mitochondrial enoyl CoA reductase protein-associated neurodegeneration, Dystonia, Childhood-Onset, with Optic Atrophy and Basal Ganglia Abnormalities, DYTOABG, Dystonia 20, Childhood-Onset, DYT29
Mitochondrial complex I deficiency
Synonyms:
Complex 1 mitochondrial respiratory chain deficiency, NADH coenzyme Q reductase deficiency, Mitochondrial NADH dehydrogenase component of complex I, deficiency of, NADH:Q(1) Oxidoreductase deficiency, Isolated mitochondrial respiratory chain complex I deficiency, Isolated NADH-coenzyme Q reductase deficiency, Isolated NADH-CoQ reductase deficiency, Isolated NADH-ubiquinone reductase deficiency, Isolated complex I deficiency
Mitochondrial complex II deficiency
Synonyms:
Complex 2 mitochondrial respiratory chain deficiency, Succinate CoQ reductase deficiency, Mitochondrial respiratory chain complex II deficiency, Succinate dehydrogenase deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Synonyms:
Mitochondrial encephalomyopathy aminoacidopathy, Mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, Booth-Haworth-Dilling syndrome, mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria, SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Mitochondrial DNA depletion syndrome 9
Mitochondrial neurogastrointestinal encephalopathy syndrome
Synonyms:
MNGIE, Myoneurogastrointestinal encephalopathy syndrome, MNGIE syndrome, Oculogastrointestinal muscular dystrophy, OGIMD, Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction, POLIP, Thymidine phosphorylase deficiency
Pearson syndrome
Synonyms:
Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction (formerly), Pearson's marrow/pancreas syndrome, Pearson's syndrome, Pearson marrow-pancreas syndrome
Primary carnitine deficiency
Synonyms:
Systemic primary carnitine deficiency, Carnitine uptake defect, Carnitine deficiency, systemic, due to defect in renal reabsorption of carnitine, Carnitine plasma-membrane transporter deficiency, Carnitine transporter deficiency, Carnitine uptake deficiency
Pyruvate carboxylase deficiency
Synonyms:
PC deficiency, Ataxia with lactic acidosis 2, Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency, Leigh syndrome due to pyruvate carboxylase deficiency
RRM2B-related mitochondrial DNA depletion syndrome
Synonyms:
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy, Mitochondrial DNA depletion syndrome 8A, Encephalomyopathic type with renal tubulopathy, mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Sengers syndrome
Synonyms:
Cardiomyopathy and cataract, Cataract and cardiomyopathy, cardiomyopathic mitochondrial DNA depletion syndrome 10, Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Short-chain acyl-CoA dehydrogenase deficiency
Synonyms:
SCAD deficiency, ACADS deficiency, SCADH deficiency, Lipid-storage myopathy secondary to short-chain acyl-CoA dehydrogenase deficiency, Short-chain acyl-coenzyme A dehydrogenase deficiency
TMEM70 defect
Synonyms:
3-MGCA type IV (3-MGCA-4) (formerly), TMEM70-related mitochondrial encephalo-cardio-myopathy, 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
VLCAD deficiency
Synonyms:
Very long-chain acyl-CoA dehydrogenase deficiency, VLCADD
