mitochondrial diseases

Preferred Label : mitochondrial diseases;

MeSH definition : Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes.;

MeSH synonym : disorder, mitochondrial; mitochondrial disease; disease, mitochondrial; mitochondrial disorders; mitochondrial disorder;

CISMeF synonym : disorders, mitochondrial;

MeSH hyponym : oxidative phosphorylation deficiencies; electron transport chain deficiencies, mitochondrial; respiratory chain deficiencies, mitochondrial; Deficiencies, Oxidative Phosphorylation; Deficiency, Oxidative Phosphorylation; Oxidative Phosphorylation Deficiency; Phosphorylation Deficiencies, Oxidative; Phosphorylation Deficiency, Oxidative; Deficiencies, Respiratory Chain; Deficiency, Respiratory Chain; Respiratory Chain Deficiency; Mitochondrial Respiratory Chain Deficiencies; Mitochondrial Electron Transport Chain Deficiencies; Defect, Mitochondrial; Mitochondrial Defects; Dysfunction, Mitochondrial; Mitochondrial Dysfunctions; Mitochondria Dysfunction; Dysfunction, Mitochondria; Mitochondria Dysfunctions;

MeSH annotation : GEN or unspecified; prefer specifics; general or unspecified; prefer specifics;

Wikipedia link : https://en.wikipedia.org/wiki/Mitochondrial disease;

Details

Origin ID

D028361;

UMLS CUI

C0751651;

Allowable qualifiers
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemically induced [MeSH Qualifier]
- classification [MeSH Qualifier]
- complications [MeSH Qualifier]
- congenital [MeSH Qualifier]
- diagnosis [MeSH Qualifier]
- diagnostic imaging [MeSH Qualifier]
- diet therapy [MeSH Qualifier]
- drug therapy [MeSH Qualifier]
- economics [MeSH Qualifier]
- embryology [MeSH Qualifier]
- enzymology [MeSH Qualifier]
- epidemiology [MeSH Qualifier]
- ethnology [MeSH Qualifier]
- etiology [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- microbiology [MeSH Qualifier]
- mortality [MeSH Qualifier]
- nursing [MeSH Qualifier]
- parasitology [MeSH Qualifier]
- pathology [MeSH Qualifier]
- physiopathology [MeSH Qualifier]
- prevention and control [MeSH Qualifier]
- psychology [MeSH Qualifier]
- radiotherapy [MeSH Qualifier]
- rehabilitation [MeSH Qualifier]
- surgery [MeSH Qualifier]
- therapy [MeSH Qualifier]
- urine [MeSH Qualifier]
- veterinary [MeSH Qualifier]
- virology [MeSH Qualifier]
Currated CISMeF NLP mapping
- Mitochondrial cytopathy (disorder) [SNOMED CT concept]
- Mitochondrial disease [PASCAL descriptor]
- Mitochondrial disease [ORDO Disease]
- disorder of mitochondrial functions [Disease (Nov.)]
- mitochondrial diseases [MedlinePlus Topic]
DO Cross reference
- mitochondrial metabolism disease [DO Concept]
Manual BTNT mappings - CISMeF
- 2p21 microdeletion syndrome [ORDO Disease]
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins [ORDO Disease]
- Cardiomyopathy-hypotonia-lactic acidosis syndrome [ORDO Disease]
- Coenzyme Q10 deficiency [ORDO Disease]
- Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome [ORDO Disease]
- Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type [ORDO Disease]
- Fatal infantile lactic acidosis with methylmalonic aciduria [ORDO Disease]
- Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 [ORDO Disease]
- Fumaric aciduria [ORDO Disease]
- GRACILE syndrome [ORDO Disease]
- Histiocytoid cardiomyopathy [ORDO Disease]
- Hypotonia with lactic acidemia and hyperammonemia [ORDO Disease]
- Isolated complex I deficiency [ORDO Disease]
- Isolated complex III deficiency [ORDO Disease]
- Isolated succinate-CoQ reductase deficiency [ORDO Disease]
- Leigh syndrome with cardiomyopathy [ORDO Disease]
- Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome [ORDO Disease]
- MEHMO syndrome [ORDO Disease]
- Mitochondrial DNA depletion syndrome [ORDO Disease]
- Mitochondrial neurogastrointestinal encephalomyopathy [ORDO Disease]
- Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies [ORDO Disease]
- NARP syndrome [ORDO Disease]
- Oxoglutaric aciduria [ORDO Disease]
- Pancreatic insufficiency-anemia-hyperostosis syndrome [ORDO Disease]
- Proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome [ORDO Disease]
- Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome [ORDO Disease]
- TMEM70-related mitochondrial encephalo-cardio-myopathy [ORDO Disease]
Manual NTBT mappings (CISMeF)
- Developmental anomaly of metabolic origin [ORDO Disease]
- Disorder of energy metabolism [ORDO Disease]
- Nephropathy secondary to a storage or other metabolic disease [ORDO Disease]
- Non-acquired premature ovarian failure [ORDO Disease]
- Rare hereditary metabolic disease with peripheral neuropathy [ORDO Disease]
- Sucking/swallowing disorder associated with basal ganglia anomalies [ORDO Disease]
ORDO relation(s)
- Mitochondrial disease [ORDO Disease]
Record concept(s)
- Mitochondrial Defect [MeSH concept]
- Mitochondrial Dysfunction [MeSH concept]
- electron transport chain deficiencies, mitochondrial [MeSH concept]
- mitochondrial diseases [MeSH concept]
- oxidative phosphorylation deficiencies [MeSH concept]
- respiratory chain deficiencies, mitochondrial [MeSH concept]
Related MeSH Supplementary Concept(s)
- 3-Hydroxy-3-Methylglutaryl-CoA synthase 2 deficiency [MeSH Supplementary Concept]
- Acyl-CoA dehydrogenase family, member 9, deficiency of [MeSH Supplementary Concept]
- Cowden-Like syndrome [MeSH Supplementary Concept]
- Hypotonia-Cystinuria syndrome [MeSH Supplementary Concept]
- Succinate-Coa ligase deficiency [MeSH Supplementary Concept]
- VDAC deficiency [MeSH Supplementary Concept]
- VLCAD deficiency [MeSH Supplementary Concept]
- ataxia and polyneuropathy, Adult-Onset [MeSH Supplementary Concept]
- ataxia neuropathy spectrum [MeSH Supplementary Concept]
- bjornstad syndrome [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, Late-Onset [MeSH Supplementary Concept]
- carnitine palmitoyltransferase II deficiency, lethal neonatal [MeSH Supplementary Concept]
- childhood myocerebrohepatopathy spectrum [MeSH Supplementary Concept]
- coenzyme Q10 deficiency [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 4 [MeSH Supplementary Concept]
- combined oxidative phosphorylation deficiency 5 [MeSH Supplementary Concept]
- deoxyguanosine kinase deficiency [MeSH Supplementary Concept]
- finnish lethal neonatal metabolic syndrome [MeSH Supplementary Concept]
- hypermetabolism due to defect in mitochondria [MeSH Supplementary Concept]
- hypomyelination, global cerebral [MeSH Supplementary Concept]
- leukodystrophy, hypomyelinating, 4 [MeSH Supplementary Concept]
- leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation [MeSH Supplementary Concept]
- medium chain 3-Ketoacyl-CoA thiolase deficiency [MeSH Supplementary Concept]
- mitochondrial DNA depletion syndrome, myopathic form [MeSH Supplementary Concept]
- mitochondrial complex I deficiency [MeSH Supplementary Concept]
- mitochondrial complex II deficiency [MeSH Supplementary Concept]
- mitochondrial complex III deficiency [MeSH Supplementary Concept]
- mitochondrial phosphate carrier deficiency [MeSH Supplementary Concept]
- multiple mitochondrial dysfunctions syndrome [MeSH Supplementary Concept]
- myopathy with giant abnormal mitochondria [MeSH Supplementary Concept]
- myopathy, cataract, hypogonadism syndrome [MeSH Supplementary Concept]
- navajo neurohepatopathy [MeSH Supplementary Concept]
- noninsulin-dependent diabetes mellitus with deafness [MeSH Supplementary Concept]
- ophthalmoplegic neuromuscular disorder with abnormal mitochondria [MeSH Supplementary Concept]
- parkinson disease, mitochondrial [MeSH Supplementary Concept]
- phosphoenolpyruvate carboxykinase deficiency, mitochondrial [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with hypogonadism [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1 [MeSH Supplementary Concept]
- progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5 [MeSH Supplementary Concept]
- proximal myopathy with focal depletion of mitochondria [MeSH Supplementary Concept]
- sarcosinemia [MeSH Supplementary Concept]
- spinocerebellar ataxia with epilepsy [MeSH Supplementary Concept]
- wolfram syndrome 2 [MeSH Supplementary Concept]
See also (suggested by CISMeF)
- Mitochondrial Replacement Therapy [MeSH Descriptor]
- mitochondria [MeSH Descriptor]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mitochondrial disease [ORDO Disease]
- mitochondrial diseases [MedlinePlus Topic]
- mitochondrial metabolism disease [DO Concept]

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