{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4240&ordering=identifier","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=4200&ordering=identifier","results":[{"identifier":"Mitochondrial complex IV deficiency, nuclear type 3.","acronym":"MC4DN3.","accession":"DI-05928","synonyms":null,"cross_references":"MeSH; D017237.","definition":"An autosomal recessive mitochondrial disorder characterized by cytochrome c oxidase deficiency. Clinical features include muscle weakness, hypotonia, ataxia, ptosis, metabolic acidosis, poor feeding, delayed motor development, anemia, sensorineural hearing loss, and cardiomyopathy. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency, nuclear type 4.","acronym":"MC4DN4.","accession":"DI-05929","synonyms":null,"cross_references":"MeSH; D017237.","definition":"An autosomal recessive mitochondrial disorder characterized by hypotonia, encephalopathy, metabolic acidosis, poor feeding, hepatomegaly, and hypertrophic cardiomyopathy in some patients. Death occurs in infancy. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency, nuclear type 5.","acronym":"MC4DN5.","accession":"DI-01887","synonyms":"COX deficiency, French Canadian type.; COX deficiency, Saguenay-Lac-Saint-Jean type.; Cytochrome c oxidase deficiency, French Canadian type.; Leigh syndrome, French-Canadian type.; Leigh syndrome, Saguenay-Lac-Saint-Jean type.; LSFC.; ","cross_references":"MeSH; D030401.","definition":"An autosomal recessive, severe mitochondrial disease with multisystemic manifestations and early onset. Clinical features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. Brain imaging shows bilaterally symmetrical necrotic lesions in subcortical brain regions. Mortality is high, due to episodes of severe metabolic acidosis and coma. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency, nuclear type 6.","acronym":"MC4DN6.","accession":"DI-03707","synonyms":"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2.; CEMCOX2.; ","cross_references":"MeSH; D030401.","definition":"An autosomal recessive multisystem disorder with variable manifestations. Some patients present in the neonatal period with encephalomyopathic features, whereas others present later in the first year of life with developmental regression. Clinical features include microcephaly, encephalopathy, hypertrophic cardiomyopathy, persistent lactic acidosis, respiratory distress, hypotonia and seizures. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency, nuclear type 7.","acronym":"MC4DN7.","accession":"DI-05930","synonyms":null,"cross_references":"MeSH; D017237.","definition":"An autosomal recessive mitochondrial disorder characterized by encephalomyopathy resulting in variable clinical manifestations. Features include muscle weakness, gait disturbances, neurodegeneration, cognitive decline, metabolic acidosis, feeding difficulties, poor overall growth, cortical visual impairment, and hypertrophic cardiomyopathy. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency, nuclear type 8.","acronym":"MC4DN8.","accession":"DI-05931","synonyms":null,"cross_references":"MeSH; D017237.","definition":"An autosomal recessive mitochondrial disorder characterized by slowly progressive cognitive dysfunction, dystonia or visual impairment that appear after an uneventful early childhood. Additional features include gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability. Brain imaging shows white matter abnormalities in the basal ganglia. Serum lactate levels are increased. Patient tissues show decreased levels and activity of mitochondrial respiratory complex IV. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex IV deficiency, nuclear type 9.","acronym":"MC4DN9.","accession":"DI-04506","synonyms":"Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3.; CEMCOX3.; ","cross_references":"MeSH; D030401.","definition":"An autosomal recessive, infantile disorder with a fatal course in the first weeks of life, and characterized by hypertrophic cardiomyopathy and mitochondrial complex IV deficiency. Postmortem microscopic investigations show accumulation of lipid droplets in cardiomyocytes and mitochondrial proliferation. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, mitochondrial 1.","acronym":"MC5DM1.","accession":"DI-03714","synonyms":"Adult-onset ataxia and polyneuropathy.; Infantile hypertrophic cardiomyopathy.; Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, mitochondrial 2.","acronym":"MC5DM2.","accession":"DI-03713","synonyms":"Apical hypertrophic cardiomyopathy and neuropathy.; Infantile hypertrophic cardiomyopathy.; Mitochondrial complex V (ATP synthase) deficiency mitochondrial type 2.; ","cross_references":"MeSH; D028361.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including neuropathy, ataxia, hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy can present with negligible to extreme hypertrophy, minimal to extensive fibrosis and myocyte disarray, absent to severe left ventricular outflow tract obstruction, and distinct septal contours/morphologies with extremely varying clinical course. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 1.","acronym":"MC5DN1.","accession":"DI-01381","synonyms":"ATPAF2 deficiency.; ATPase deficiency.; ATP synthase deficiency.; Complex 5 mitochondrial respiratory chain deficiency.; Complex V mitochondrial respiratory chain deficiency.; Mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type.; Mitochondrial complex V (ATP synthase) deficiency type 1.; ","cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 2.","acronym":"MC5DN2.","accession":"DI-03147","synonyms":"Mitochondrial complex V (ATP synthase) deficiency TMEM70 type.; Mitochondrial complex V (ATP synthase) deficiency type 2.; Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency.; Mitochondrial neonatal encephalocardiomyopathy due to ATP synthase deficiency.; ","cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 3.","acronym":"MC5DN3.","accession":"DI-03148","synonyms":"Mitochondrial complex V (ATP synthase) deficiency ATP5E type.; Mitochondrial complex V (ATP synthase) deficiency type 3.; ","cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder with heterogeneous clinical manifestations including dysmorphic features, psychomotor retardation, hypotonia, growth retardation, cardiomyopathy, enlarged liver, hypoplastic kidneys and elevated lactate levels in urine, plasma and cerebrospinal fluid. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 4A.","acronym":"MC5DN4A.","accession":"DI-06674","synonyms":"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A.; ","cross_references":"MeSH; D028361.","definition":"An autosomal dominant mitochondrial disorder characterized by failure to thrive, feeding difficulties, hyperlactatemia, hyperammonemia, and increased serum alanine levels. Some affected individuals show spontaneous resolution of the symptoms in early childhood and have subsequent normal growth and development, whereas others show developmental delay with impaired intellectual development and movement abnormalities, including dystonia, ataxia, or spasticity. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 4B.","acronym":"MC5DN4B.","accession":"DI-03740","synonyms":"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type.; Mitochondrial complex V (ATP synthase) deficiency ATP5A1 type.; Mitochondrial complex V (ATP synthase) deficiency type 4.; ","cross_references":"MeSH; D017237.","definition":"An autosomal recessive mitochondrial disorder characterized by severe neonatal encephalopathy resulting in death in the first weeks of life. Affected individuals do not show dysmorphic features or organomegaly, and manifest neurologic features such as irritability, a high-pitched cry, a horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation. Post-mortem anatomopathological examination shows extensive cerebral damage, hypoplastic lungs, and renal and skeletal lesions. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 5.","acronym":"MC5DN5.","accession":"DI-05335","synonyms":"Mitochondrial complex V  (ATP synthase)  deficiency, ATP5F1D type.; ","cross_references":"MeSH; D017237.","definition":"A mitochondrial disorder characterized by childhood onset of episodic metabolic decompensation featuring lactic acidosis and hyperammonemia accompanied by ketoacidosis or hypoglycemia. Chronic manifestations include developmental delay, easy fatiguability, and 3- methylglutaconic aciduria. The transmission pattern of MC5DN5 is consistent with autosomal recessive inheritance. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 6.","acronym":"MC5DN6.","accession":"DI-05711","synonyms":"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6.; ","cross_references":"MeSH; D017237.","definition":"An autosomal recessive mitochondrial disorder characterized by gross motor developmental delay manifesting in the first years of life, and subsequent episodic developmental regression. The episodes are associated with metabolic stress, including fever, illness, and general anesthesia. Patients develop gait difficulties or loss of ambulation, as well as other variable abnormalities, including abnormal movements, hemiplegia, and persistent lethargy. Brain imaging shows degenerative features in the basal ganglia and brainstem consistent with a diagnosis of Leigh syndrome. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial complex V deficiency, nuclear type 7.","acronym":"MC5DN7.","accession":"DI-06675","synonyms":"Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7.; ","cross_references":"MeSH; D028361.","definition":"An autosomal recessive, severe, mitochondrial disorder apparent soon after birth. It is characterized by multisystemic features that include hypotonia, developmental delay, progressive epileptic encephalopathy, progressive cerebral atrophy, white matter abnormalities on brain imaging, and hypertrophic cardiomyopathy in some patients. Death in infancy or early childhood may occur. ","keywords":"KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial DNA depletion syndrome 10.","acronym":"MTDPS10.","accession":"DI-03390","synonyms":"Cardiomyopathy and cataract.; Mitochondrial DNA depletion syndrome 10 (cardiomyopathic type).; Sengers syndrome.; ","cross_references":"MeSH; D028361.","definition":"An autosomal recessive mitochondrial disorder characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis. Mental development is normal, but affected individuals may die early from cardiomyopathy. ","keywords":"KW-0122:Cardiomyopathy.; KW-0898:Cataract.; KW-1274:Primary mitochondrial disease.; "},{"identifier":"Mitochondrial DNA depletion syndrome 11.","acronym":"MTDPS11.","accession":"DI-03645","synonyms":null,"cross_references":"MeSH; D017240.","definition":"An autosomal recessive mitochondrial disorder characterized by onset in childhood or adulthood of progressive external ophthalmoplegia, muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness. More variable features include spinal deformity, emaciation, and cardiac abnormalities. Skeletal muscle biopsies show deletion and depletion of mitochondrial DNA (mtDNA) with variable defects in respiratory chain enzyme activities. ","keywords":"KW-0935:Progressive external ophthalmoplegia.; "},{"identifier":"Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type.","acronym":"MTDPS12A.","accession":"DI-04880","synonyms":"Mitochondrial DNA depletion syndrome 12A, cardiomyopathic type, autosomal dominant.; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) autosomal dominant.; ","cross_references":"MeSH; D017240.","definition":"An autosomal dominant mitochondrial disorder characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth. Affected infants have respiratory insufficiency requiring mechanical ventilation and have poor or no motor development. Many die in infancy, and those that survive have profound hypotonia with significant muscle weakness and inability to walk independently. Some patients develop hypertrophic cardiomyopathy. Muscle samples show mtDNA depletion and severe combined mitochondrial respiratory chain deficiencies. ","keywords":"KW-0122:Cardiomyopathy.; KW-1274:Primary mitochondrial disease.; "}]}