MCID: MTC069
MIFTS: 46

Mitochondrial Disorders malady

Summaries for Mitochondrial Disorders

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44NINDS, 64Wikipedia, 19GeneReviews, 33MalaCards
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NINDS:44 Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondria?small, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.

MalaCards: Mitochondrial Disorders, also known as mitochondrial myopathies, is related to leber hereditary optic neuropathy and leigh disease. An important gene associated with Mitochondrial Disorders is MT-TV (mitochondrially encoded tRNA valine), and among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and tRNA Aminoacylation. The compounds nad and nadh have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain.

Wikipedia:64 Mitochondrial disease is a group of disorders caused by dysfunctional mitochondria, the organelles that... more...

GeneReviews summary for mt-overview

Aliases & Classifications for Mitochondrial Disorders

Sources:
19GeneReviews, 20GeneTests, 22GTR, 44NINDS, 10DISEASES, 45Novoseek, 61UMLS
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Aliases & Descriptions:

mitochondrial disorders 19 20 22
mitochondrial myopathies 19 22 44 45 61
mitochondrial encephalomyopathies 19 45 61
mitochondrial diseases 45 61
mitochondrial respiratory chain deficiencies 61
oxidative phosphorylation disorders 19
mitochondrial encephalomyopathy 10
respiratory chain deficiency 45
respiratory chain disorders 19
mitochondrial myopathy 10


Related Diseases for Mitochondrial Disorders

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Mitochondrial Disorders family:

mitochondrial disease with severe hypotonia, lactic acidaemia and hyperammonemia

Diseases related to Mitochondrial Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 152)
idRelated DiseaseScoreTop Affiliating Genes
1leber hereditary optic neuropathy30.1MT-ND4, MT-ND6, MT-ND5
2leigh disease30.1MT-ND5, MT-ATP6
3mitochondrial complex i deficiency30.1MT-ND6, MT-ND5
4melas syndrome29.8MT-TL1, MT-ND5
5merrf syndrome29.8MT-TK, MT-ND5
6mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.6
7kearns-sayre syndrome10.4
8say syndrome10.4
9sideroblastic anemia and mitochondrial myopathy10.4
10mitochondrial genetic disorders10.4
11mitochondrial myopathy with diabetes10.3
12combined oxidative phosphorylation deficiency 610.3
13mitochondrial myopathy and sideroblastic anemia 110.3
14mitochondrial myopathy - lactic acidosis - deafness10.3
15hypoparathyroidism10.2
16cerebellar degeneration10.2
17sleep apnea10.2
18fastkd2-related infantile mitochondrial encephalomyopathy10.2
19ramsay-hunt syndrome10.2
20melas, mt-th-related10.2
21lethal infantile mitochondrial myopathy10.2
22pure mitochondrial myopathy10.2
23adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.2
24gout10.2
25aicardi syndrome10.2
26mitochondrial complex ii deficiency10.2
27mitochondrial complex iii deficiency10.2
28cardiac tamponade10.1
29zellweger syndrome10.1
30myopathy congenital10.1
31mitochondrial myopathy with lactic acidosis10.1
32myopathy mitochondrial cataract10.1
33cataract, congenital10.1
34ataxia10.1
35atrioventricular block10.1
36focal segmental glomerulosclerosis10.1
37alpers syndrome10.1
38sensorineural hearing loss10.1
39myoclonic cerebellar dyssynergia10.1
40amenorrhea10.1
41primary open angle glaucoma10.1
42mu chain disease10.1
43fanconi syndrome10.1
44hypertrophic cardiomyopathy10.1
45mutism10.1
46focal glomerulosclerosis10.1
47vitiligo10.1
48autosomal dominant disease10.1
49autosomal genetic disease10.1
503-m syndrome10.1

Graphical network of the top 20 diseases related to Mitochondrial Disorders:



Diseases related to mitochondrial disorders

Clinical Features for Mitochondrial Disorders

Drugs & Therapeutics for Mitochondrial Disorders

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Mitochondrial Disorders

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Disorders

Search NIH Clinical Center for Mitochondrial Disorders

Search CenterWatch for Mitochondrial Disorders

Genetic Tests for Mitochondrial Disorders

Sources:
20GeneTests, 22GTR
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Genetic tests related to Mitochondrial Disorders:

id Genetic test Affiliating Genes
1 Mitochondrial Disorders20 MT-ATP6, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TA, MT-TC, MT-TD, MT-TF, MT-TH (show all 22)

MT-TK, MT-TL1, MT-TL2, MT-TM, MT-TQ, MT-TR, MT-TS1, MT-TS2, MT-TT, MT-TV, MT-TW, MT-TY

2 Mitochondrial Disorders Multi-gene Panels (mitochondrial Genes)20
3 Mitochondrial Disorders Multi-gene Panels (nuclear Genes)20
4 Mitochondrial Diseases22
5 Mitochondrial Myopathy22

Anatomical Context for Mitochondrial Disorders

Sources:
33MalaCards
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MalaCards organs/tissues related to Mitochondrial Disorders:

33
Skin, Liver, Brain, Kidney, Whole blood, Heart, Skeletal muscle, T cells, Fetal brain, Fetal liver

Animal Models for Mitochondrial Disorders or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mitochondrial Disorders

Sources:
51PubMed
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Articles related to Mitochondrial Disorders:

(show top 50)    (show all 326)
idTitleAuthorsYear
1
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. (23631824)
2013
2
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. (23847141)
2013
3
Mitochondrial detachment of hexokinase 1 in mood and psychotic disorders: implications for brain energy metabolism and neurotrophic signaling. (22018957)
2012
4
A t(1;11) translocation linked to schizophrenia and affective disorders gives rise to aberrant chimeric DISC1 transcripts that encode structurally altered, deleterious mitochondrial proteins. (22547224)
2012
5
Inherited mitochondrial disorders. (22399423)
2012
6
Diagnosis of mitochondrial disorders applying massive pyrosequencing. (22302390)
2012
7
Cognitive dysfunction in mitochondrial disorders. (22335339)
2012
8
Transcriptome analysis in mitochondrial disorders. (21856382)
2012
9
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. (21855655)
2011
10
Transduction of human recombinant proteins into mitochondria as a protein therapeutic approach for mitochondrial disorders. (21874377)
2011
11
Treatment of central nervous system manifestations in mitochondrial disorders. (20500524)
2011
12
An overview of a cohort of South African patients with mitochondrial disorders. (20135231)
2010
13
Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. (20566709)
2010
14
Treating psychiatric illness in patients with mitochondrial disorders. (20332296)
2010
15
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders. (20044447)
2010
16
Update on mitochondrial fatty acid oxidation disorders. (20842433)
2010
17
Drugs interfering with mitochondrial disorders. (19839725)
2010
18
Inherited metabolic disorders and stroke part 1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. (20065125)
2010
19
Novel mitochondrial substrates of omi indicate a new regulatory role in neurodegenerative disorders. (19763263)
2009
20
Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disorders. (19332025)
2009
21
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders. (18392740)
2008
22
Protein synthesis and assembly in mitochondrial disorders. (18991722)
2008
23
Mitochondrial fatty-acid oxidation disorders. (18708005)
2008
24
Liver disease in mitochondrial disorders. (17682973)
2007
25
Hematological manifestations of primary mitochondrial disorders. (17637511)
2007
26
Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. (16930355)
2006
27
Autosomal disorders of mitochondrial DNA maintenance. (16898256)
2006
28
Stroke due to mitochondrial disorders in Saudi children. (16532135)
2006
29
Measurement of ATP production in mitochondrial disorders. (16601873)
2006
30
Mitochondrial disorders in renal tumors. (16714150)
2006
31
Basal Ganglia calcification in mitochondrial disorders. (16167199)
2005
32
Neuroimaging of mitochondrial disorders. (16120407)
2004
33
Mitochondrial disorders. (16106628)
2004
34
Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features. (12512338)
2002
35
Mouse models for disorders of mitochondrial fatty acid beta-oxidation. (11917157)
2002
36
Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. (12477166)
2002
37
The expanding spectrum of nuclear gene mutations in mitochondrial disorders. (11735375)
2001
38
Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. (11102933)
2000
39
Disorders of mitochondrial fatty acyl-CoA beta-oxidation. (10407780)
1999
40
Mitochondrial disorders. (10084814)
1999
41
Personality profiles of mothers of children with mitochondrial disorders. (10399094)
1999
42
Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders. (9733094)
1998
43
Mitochondrial disorders. (9560947)
1997
44
Mitochondrial disorders. (8894413)
1996
45
tRNA processing in human mitochondrial disorders. (8901509)
1995-1996
46
Short-term dichloroacetate treatment improves indices of cerebral metabolism in patients with mitochondrial disorders. (7783888)
1995
47
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders. (8105143)
1993
48
Mitochondrial disorders in pediatrics. Clinical, biochemical, and genetic implications. (1553246)
1992
49
Lactic acidosis and mitochondrial disorders. (1959224)
1991
50
The mitochondrial disorders : pathogenesis and aetiological classification. (6890149)
1982

Genetic Variations for Mitochondrial Disorders

Expression for genes affiliated with Mitochondrial Disorders

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mitochondrial Disorders

Search GEO for disease gene expression data for Mitochondrial Disorders.

Pathways for genes affiliated with Mitochondrial Disorders

Sources:
54Reactome, 30KEGG, 38NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Disorders

Sources:
29IUPHAR, 24HMDB, 45Novoseek, 11DrugBank
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Compounds related to Mitochondrial Disorders according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nad29 2411.4MT-ND5, MT-ND4, MT-ND6
2nadh45 11 2412.3MT-ND5, MT-ND4, MT-ATP6, MT-ND6
3valine4510.1MT-ND6, MT-ND4, MT-ND5

GO Terms for genes affiliated with Mitochondrial Disorders

Products for genes affiliated with Mitochondrial Disorders

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Sources for Mitochondrial Disorders

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet