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101 Result(s)

ORPHA:217371   (Disorder)   Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins

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Synonym(s) : Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins

ORPHA:329336   (Disorder)   Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy

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Synonym(s) : Adult-onset CPEO with mitochondrial myopathy

ORPHA:314603   (Disorder)   Autosomal recessive spastic ataxia with leukoencephalopathy

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:466722   (Disorder)   Autosomal recessive spastic paraplegia type 77

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:134   (Disorder)   Beta-ketothiolase deficiency

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Synonym(s) : Mitochondrial acetoacetyl-coenzyme A thiolase deficiency

ORPHA:436174   (Disorder)   Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:319519   (Disorder)   Combined oxidative phosphorylation defect type 14

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:420728   (Disorder)   Combined oxidative phosphorylation defect type 20

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:420733   (Disorder)   Combined oxidative phosphorylation defect type 21

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:444458   (Disorder)   Combined oxidative phosphorylation defect type 24

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:447954   (Disorder)   Combined oxidative phosphorylation defect type 25

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:319504   (Disorder)   Combined oxidative phosphorylation defect type 8

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:352470   (Disorder)   DNA2-related mitochondrial DNA deletion syndrome

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Synonym(s) : Mitochondrial DNA deletion syndrome with limb-girdle weakness ; Mitochondrial DNA deletion syndrome with progressive myopathy

ORPHA:330050   (Subtype of disorder)   DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect

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Keyword(s) : Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

ORPHA:353217   (Disorder)   Epileptic encephalopathy with global cerebral demyelination

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Synonym(s) : Mitochondrial aspartate-glutamate carrier 1 deficiency

ORPHA:168566   (Disorder)   Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

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Synonym(s) : Fatal mitochondrial disease due to COXPD3

ORPHA:363694   (Disorder)   Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:254913   (Disorder)   Isolated ATP synthase deficiency

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Synonym(s) : Isolated mitochondrial respiratory chain complex V deficiency

ORPHA:2609   (Disorder)   Isolated complex I deficiency

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Synonym(s) : Isolated mitochondrial respiratory chain complex I deficiency

ORPHA:1460   (Disorder)   Isolated complex III deficiency

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Synonym(s) : Isolated mitochondrial respiratory chain complex III deficiency

ORPHA:254905   (Disorder)   Isolated cytochrome C oxidase deficiency

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Synonym(s) : Isolated mitochondrial respiratory chain complex IV deficiency

ORPHA:3208   (Disorder)   Isolated succinate-CoQ reductase deficiency

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Synonym(s) : Isolated mitochondrial respiratory chain complex II deficiency

ORPHA:254857   (Disorder)   Lethal infantile mitochondrial myopathy

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Synonym(s) : Lethal infantile mitochondrial disease

ORPHA:137898   (Disorder)   Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:314051   (Disorder)   Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:550   (Disorder)   MELAS

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Synonym(s) : Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes ; Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

ORPHA:508093   (Disorder)   MEPAN syndrome

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Synonym(s) : Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome

ORPHA:225   (Disorder)   Maternally-inherited diabetes and deafness

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Synonym(s) : Mitochondrial diabetes

ORPHA:280671   (Disorder)   Megaconial congenital muscular dystrophy

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Synonym(s) : Congenital muscular dystrophy with mitochondrial structural abnormalities

ORPHA:35698   (Group of disorders)   Mitochondrial DNA depletion syndrome

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ORPHA:1933   (Disorder)   Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

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Synonym(s) : Mitochondrial encephalomyopathy-aminoacidopathy syndrome

ORPHA:352456   (Group of disorders)   Mitochondrial DNA maintenance syndrome

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ORPHA:254851   (Disorder)   Mitochondrial DNA-related dystonia

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Synonym(s) : Maternally-inherited mitochondrial dystonia

ORPHA:254788   (Group of disorders)   Mitochondrial DNA-related mitochondrial myopathy

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Synonym(s) : mtDNA-related mitochondrial myopathy ; Maternally-inherited mitochondrial myopathy

ORPHA:68380   (Group of disorders)   Mitochondrial disease

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ORPHA:225700   (Group of disorders)   Mitochondrial disease with epilepsy

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ORPHA:254827   (Group of disorders)   Mitochondrial membrane transport disorder

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ORPHA:206966   (Group of disorders)   Mitochondrial myopathy

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ORPHA:2598   (Disorder)   Mitochondrial myopathy and sideroblastic anemia

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:254864   (Disorder)   Mitochondrial myopathy with reversible cytochrome C oxidase deficiency

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Synonym(s) : Mitochondrial myopathy with reversible COX deficiency ; Mitochondrial myopathy with reversible complex IV deficiency

ORPHA:502423   (Disorder)   Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome

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Synonym(s) : Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome

ORPHA:2597   (Disorder)   Mitochondrial myopathy-lactic acidosis-deafness syndrome

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Synonym(s) : Mitochondrial myopathy-lactic acidosis-hearing loss syndrome

ORPHA:90641   (Subtype of disorder)   Mitochondrial non-syndromic sensorineural deafness

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Synonym(s) : Isolated mitochondrial neurosensory deafness ; Isolated mitochondrial sensorineural deafness ; Isolated mitochondrial neurosensory hearing loss ; Isolated mitochondrial sensorineural hearing loss ; Mitochondrial non-syndromic neurosensory deafness ; Mitochondrial non-syndromic neurosensory hearing loss ; Mitochondrial non-syndromic sensorineural hearing loss

ORPHA:168609   (Subtype of disorder)   Mitochondrial non-syndromic sensorineural deafness with susceptibility to aminoglycoside exposure

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Synonym(s) : Mitochondrial isolated neurosensory deafness with susceptibility to aminoglycoside exposure ; Mitochondrial isolated sensorineural deafness with susceptibility to aminoglycoside exposure ; Mitochondrial isolated neurosensory hearing loss with susceptibility to aminoglycoside exposure ; Mitochondrial isolated sensorineural hearing loss with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic neurosensory deafness with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic neurosensory hearing loss with susceptibility to aminoglycoside exposure ; Mitochondrial non-syndromic sensorineural hearing loss with susceptibility to aminoglycoside exposure

ORPHA:254793   (Group of disorders)   Mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA

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Synonym(s) : OXPHOS disease due to a duplication of mitochondrial DNA ; Mitochondrial oxidative phosphorylation disorder due to a duplication of mtDNA

ORPHA:254767   (Group of disorders)   Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA

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Synonym(s) : OXPHOS disease due to a large-scale single deletion of mitochondrial DNA ; Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mtDNA

ORPHA:254776   (Group of disorders)   Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

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Synonym(s) : OXPHOS disease due to a point mutation of mitochondrial DNA ; Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA

ORPHA:254758   (Group of disorders)   Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies

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Synonym(s) : OXPHOS disease due to mitochondrial DNA anomalies ; Mitochondrial oxidative phosphorylation disorder due to mtDNA anomalies

ORPHA:2443   (Group of disorders)   Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies

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Synonym(s) : Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies

ORPHA:254834   (Group of disorders)   Mitochondrial protein import disorder

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ORPHA:254830   (Group of disorders)   Mitochondrial substrate carrier disorder

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ORPHA:254807   (Group of disorders)   Multiple mitochondrial DNA deletion syndrome

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ORPHA:289573   (Group of disorders)   Multiple mitochondrial dysfunctions syndrome

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ORPHA:280288   (Subtype of disorder)   Pelizaeus-Merzbacher-like disease due to HSPD1 mutation

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Synonym(s) : Mitochondrial HSP60 chaperonopathy

ORPHA:2855   (Disorder)   Perrault syndrome

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Keyword(s) : Mitochondrial tRNA synthetase deficiency

ORPHA:166073   (Disorder)   Pontocerebellar hypoplasia type 6

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Synonym(s) : Fatal infantile encephalopathy with mitochondrial respiratory chain defects

ORPHA:352447   (Disorder)   Progressive external ophthalmoplegia-myopathy-emaciation syndrome

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Synonym(s) : Mitochondrial DNA maintenance syndrome due to MGME1 deficiency

ORPHA:254854   (Disorder)   Pure mitochondrial myopathy

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ORPHA:238329   (Disorder)   Severe X-linked mitochondrial encephalomyopathy

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Synonym(s) : Mitochondrial encephalomyopathy due to COXPD6 ; Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6

ORPHA:254881   (Disorder)   Spinocerebellar ataxia with epilepsy

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Synonym(s) : Mitochondrial spinocerebellar ataxia with epilepsy

ORPHA:1194   (Disorder)   TMEM70-related mitochondrial encephalo-cardio-myopathy

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Synonym(s) : 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

ORPHA:254837   (Group of disorders)   Unspecified mitochondrial disorder

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ORPHA:572798   (Disorder)   WARS2-related combined oxidative phosphorylation defect

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Synonym(s) : Mitochondrial tryptophanyl-tRNA synthetase deficiency