MCID: MTC069
MIFTS: 47

Mitochondrial Disorders malady

Summaries for Mitochondrial Disorders

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43NINDS, 63Wikipedia, 19GeneReviews, 32MalaCards
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NINDS:43 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 lactic acidosis 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 brain, eye and heart.

Wikipedia:63 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

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19GeneReviews, 20GeneTests, 22GTR, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS
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Aliases & Descriptions:

mitochondrial disorders 19 20 22
mitochondrial myopathies 19 22 43 44 60
mitochondrial encephalomyopathies 19 44 60
mitochondrial diseases 44 60
mitochondrial respiratory chain deficiencies 60
oxidative phosphorylation disorders 19
mitochondrial encephalomyopathy 10
respiratory chain deficiency 44
respiratory chain disorders 19
mitochondrial myopathy 10


Related Diseases for Mitochondrial Disorders

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17GeneCards, 18GeneDecks
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Diseases related to Mitochondrial Disorders via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 169)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.3MT-ND5, MT-ND4
2leigh disease30.1MT-ND5, MT-ATP6
3melas syndrome30.0MT-TL1, MT-ND5
4leber hereditary optic neuropathy29.9MT-ND6, MT-ND4, MT-ND5
5merrf syndrome29.9MT-TK, MT-ND5
6mitochondrial complex i deficiency29.9MT-ND6, MT-ND5
7mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.6
8sideroblastic anemia and mitochondrial myopathy10.4
9kearns-sayre syndrome10.4
10mitochondrial myopathy with diabetes10.3
11melas, mt-th-related10.3
12mitochondrial myopathy and sideroblastic anemia 110.3
13mitochondrial myopathy - lactic acidosis - deafness10.3
14diabetes mellitus10.3
15combined oxidative phosphorylation deficiency 610.3
16chronic progressive external ophthalmoplegia10.3
17lethal infantile mitochondrial myopathy10.3
18adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.3
19choroiditis10.2
20hypoparathyroidism10.2
21ophthalmoplegia10.2
22pancreatitis10.2
23fastkd2-related infantile mitochondrial encephalomyopathy10.2
24pure mitochondrial myopathy10.2
25aicardi syndrome10.2
26mitochondrial complex iii deficiency10.2
27neuropathy10.2
28cardiac tamponade10.1
29zellweger syndrome10.1
30intestinal pseudo-obstruction10.1
31mitochondrial myopathy with lactic acidosis10.1
32hypertension10.1
33myopathy10.1
34peripheral neuropathy10.1
35maternally inherited diabetes and deafness10.1
36atrioventricular block10.1
37focal segmental glomerulosclerosis10.1
38alpers syndrome10.1
39sensorineural hearing loss10.1
40amenorrhea10.1
41primary open angle glaucoma10.1
42fanconi syndrome10.1
43mutism10.1
44diabetic cataract10.1
45focal glomerulosclerosis10.1
46metabolic acidosis10.1
47vitiligo10.1
48autosomal dominant disease10.1
49autosomal genetic disease10.1
50cataract10.1

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



Diseases related to mitochondrial disorders

Clinical Features for Mitochondrial Disorders

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Drugs & Therapeutics for Mitochondrial Disorders

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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

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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

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32MalaCards
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MalaCards organs/tissues related to Mitochondrial Disorders:

32
Brain, Eye, Heart, Liver, Cortex, Testes, Skin, Kidney, Skeletal muscle, Prefrontal cortex, Pancreas, Whole blood

Animal Models for Mitochondrial Disorders or affiliated genes

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Publications for Mitochondrial Disorders

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50PubMed
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Articles related to Mitochondrial Disorders:

(show top 50)    (show all 407)
idTitleAuthorsYear
1
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. (23838601)
2013
2
A multi-center comparison of diagnostic methods for the biochemical evaluation of suspected mitochondrial disorders. (23164799)
2013
3
Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome. (23631824)
2013
4
Next-generation sequencing for mitochondrial disorders. (24138576)
2013
5
Anesthesia for children with mitochondrial disorders: a national survey and review. (23007905)
2013
6
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement. (23623855)
2013
7
Targeted exome sequencing for mitochondrial disorders reveals high genetic heterogeneity. (24215330)
2013
8
Unique acyl-carnitine profiles are potential biomarkers for acquired mitochondrial disease in autism spectrum disorder. (23340503)
2013
9
Review of clinical trials for mitochondrial disorders: 1997-2012. (23361264)
2013
10
Ataxia in mitochondrial disorders. (21827900)
2012
11
Diagnostic challenges of mitochondrial disorders: complexities of two genomes. (22215539)
2012
12
A Diagnostic Algorithm for Mitochondrial Disorders in Estonian Children. (23112753)
2012
13
Mitochondrial enzymes discriminate between mitochondrial disorders and chronic fatigue syndrome. (21664495)
2011
14
Treatment of central nervous system manifestations in mitochondrial disorders. (20500524)
2011
15
Association study of polymorphisms in the autosomal mitochondrial complex I subunit gene, NADH dehydrogenase (ubiquinone) flavoprotein 2, and bipolar disorder. (20978456)
2011
16
Mitochondrial fatty acid oxidation disorders: pathophysiological studies in mouse models. (20532823)
2010
17
Drugs interfering with mitochondrial disorders. (19839725)
2010
18
The typical MERRF (A8344G) mutation of the mitochondrial DNA associated with depressive mood disorders. (19266142)
2009
19
Mitochondrial disorders. (19584620)
2009
20
EFNS guidelines on the molecular diagnosis of mitochondrial disorders. (19950421)
2009
21
Abnormalities of mitochondrial functioning can partly explain the metabolic disorders encountered in sarcopenic gastrocnemius. (17286611)
2007
22
Evidence of cardiovascular autonomic impairment in mitochondrial disorders. (17987253)
2007
23
Stroke due to mitochondrial disorders in Saudi children. (16532135)
2006
24
Mitochondrial dysfunction in bipolar disorder]. (16220655)
2005
25
A two-dimensional electrophoretic map of human mitochondrial proteins from immortalized lymphoblastoid cell lines: a prerequisite to study mitochondrial disorders in patients. (15986334)
2005
26
Hearing loss in mitochondrial disorders. (15965043)
2005
27
Neuroimaging of mitochondrial disorders. (16120407)
2004
28
Mitochondrial function dependent proliferation assay for the diagnosis of mitochondrial disorders in human fibroblasts. (15571244)
2004
29
In vivo magnetic resonance spectroscopy in the evaluation of mitochondrial disorders. (16120408)
2004
30
Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder. (14604458)
2003
31
Nutritional cofactor treatment in mitochondrial disorders. (12891154)
2003
32
New insights into the bioenergetics of mitochondrial disorders using intracellular ATP reporters. (12972552)
2003
33
Molecular investigations on tRNAs involved in human mitochondrial disorders. (12418552)
2002
34
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. (11335700)
2001
35
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. (11596783)
2001
36
Epileptic phenotypes associated with mitochondrial disorders. (11376185)
2001
37
Diagnosis of mitochondrial disorders: clinical and biochemical approach. (11405352)
2001
38
Improved stable isotope dilution-gas chromatography-mass spectrometry method for serum or plasma free 3-hydroxy-fatty acids and its utility for the study of disorders of mitochondrial fatty acid beta-oxidation. (10657369)
2000
39
Cerebral blood flow and glucose metabolism in mitochondrial disorders. (10953189)
2000
40
Multiple presentation of mitochondrial disorders. (10451392)
1999
41
Mitochondrial disorders. A diagnostic challenge in clinical chemistry. (10596952)
1999
42
Mitochondrial disorders: an overview. (9239536)
1997
43
Mitochondrial disorders. (8894413)
1996
44
Mitochondrial disorders. Methods and specimen selection for diagnostic molecular pathology. (8651866)
1996
45
Kidney involvement in mitochondrial disorders. (7572420)
1995
46
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. (8301427)
1994
47
Mitochondrial disorders: analysis of their clinical and imaging characteristics. (8237691)
1993
48
MELAS syndrome: a mitochondrially inherited disorder. (8325731)
1993
49
Neuro-ophthalmologic manifestations of mitochondrial DNA disorders: chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, and Leber's hereditary optic neuropathy. (2011107)
1991
50
Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. (2243133)
1990

Genetic Variations for Mitochondrial Disorders

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Expression for genes affiliated with Mitochondrial Disorders

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

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Pathways for genes affiliated with Mitochondrial Disorders

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Disorders

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28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank
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Compounds related to Mitochondrial Disorders according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1nad28 2411.4MT-ND5, MT-ND4, MT-ND6
2nadh44 11 2412.3MT-ND5, MT-ND4, MT-ATP6, MT-ND6
3valine4410.1MT-ND6, MT-ND4, MT-ND5

GO Terms for genes affiliated with Mitochondrial Disorders

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Products for genes affiliated with Mitochondrial Disorders

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Sources for Mitochondrial Disorders

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet