MCID: MTC069
MIFTS: 50

Mitochondrial Disorders malady

Genetic diseases (common) category

Summaries for Mitochondrial Disorders

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45NINDS, 66Wikipedia, 20GeneReviews, 34MalaCards
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NINDS:45 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 melas syndrome and leber hereditary optic neuropathy. An important gene associated with Mitochondrial Disorders is MT-TF (mitochondrially encoded tRNA phenylalanine), 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 Ubiquinol 8 and Sulfide have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and heart.

Wikipedia:66 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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20GeneReviews, 21GeneTests, 23GTR, 45NINDS, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Aliases & Descriptions:

mitochondrial disorders 20 21 23
mitochondrial myopathies 20 23 45 46 63
mitochondrial encephalomyopathies 20 46 63
mitochondrial diseases 46 63
mitochondrial respiratory chain deficiencies 63
oxidative phosphorylation disorders 20
mitochondrial encephalomyopathy 11
respiratory chain deficiency 46
respiratory chain disorders 20
mitochondrial myopathy 11


Related Diseases for Mitochondrial Disorders

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18GeneCards, 19GeneDecks
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Diseases in the Mitochondrial Disorders family:

Rrm2b-Related Mitochondrial Disease

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

(show top 50)    (show all 180)
idRelated DiseaseScoreTop Affiliating Genes
1melas syndrome30.1MT-ND6, MT-ND4
2leber hereditary optic neuropathy30.0MT-ND6, MT-ND4
3leigh disease29.8MT-ATP6, MT-ND6, MT-ND4
4mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.9
5sideroblastic anemia and mitochondrial myopathy10.5
6kearns-sayre syndrome10.5
7cytochrome-c oxidase deficiency disease10.4
8mitochondrial myopathy with diabetes10.4
9melas, mt-th-related10.4
10mitochondrial myopathy and sideroblastic anemia 110.4
11mitochondrial myopathy - lactic acidosis - deafness10.4
12diabetes mellitus10.3
13combined oxidative phosphorylation deficiency 610.3
14lethal infantile mitochondrial myopathy10.3
15pure mitochondrial myopathy10.3
16adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.3
17choroiditis10.3
18hypoparathyroidism10.3
19ophthalmoplegia10.3
20pancreatitis10.3
21sleep apnea10.3
22aminoacidopathies10.3
23fastkd2-related infantile mitochondrial encephalomyopathy10.3
24ramsay-hunt syndrome10.3
25chronic progressive external ophthalmoplegia10.2
26mitochondrial myopathy with lactic acidosis10.2
27lactic acidosis10.2
28neuropathy10.2
29mitochondrial complex iii deficiency10.2
30cardiac tamponade10.2
31zellweger syndrome10.2
32intestinal pseudo-obstruction10.2
33hypertension10.1
34myopathy10.1
35peripheral neuropathy10.1
36maternally inherited diabetes and deafness10.1
37ataxia10.1
38atrioventricular block10.1
39focal segmental glomerulosclerosis10.1
40primary open angle glaucoma10.1
41fanconi syndrome10.1
42mutism10.1
43sensorineural hearing loss10.1
44amenorrhea10.1
45vitiligo10.1
46cataract10.1
47encephalitis10.1
48glaucoma10.1
49glomerulosclerosis10.1
50herpes simplex10.1

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



Diseases related to mitochondrial disorders

Symptoms for Mitochondrial Disorders

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Drugs & Therapeutics for Mitochondrial Disorders

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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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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21GeneTests, 23GTR
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Genetic tests related to Mitochondrial Disorders:

id Genetic test Affiliating Genes
1 Mitochondrial Disorders21 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)21
3 Mitochondrial Disorders Multi-Gene Panels (nuclear Genes)21
4 Mitochondrial Diseases23
5 Mitochondrial Myopathy23

Anatomical Context for Mitochondrial Disorders

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34MalaCards
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MalaCards organs/tissues related to Mitochondrial Disorders:

34
Brain, Eye, Heart, Liver, Kidney, Skeletal muscle, Skin, Testes, Pancreas

Animal Models for Mitochondrial Disorders or affiliated genes

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Publications for Mitochondrial Disorders

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53PubMed
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Articles related to Mitochondrial Disorders:

(show top 50)    (show all 280)
idTitleAuthorsYear
1
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. (23665194)
2013
2
Mutations in human DNA polymerase I^ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. (23208208)
2013
3
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. (23838601)
2013
4
Decreased exhaled nitric oxide levels in patients with mitochondrial disorders. (23935767)
2013
5
Intervention to prevent transmission of mitochondrial disorders should be allowed, subject to safeguards, report says. (22693066)
2012
6
The psychiatric presentation of mitochondrial disorders in adults. (23224446)
2012
7
Cerebro-spinal fluid findings in mitochondrial disorders. (23000502)
2012
8
Monogenic mitochondrial disorders. (22435372)
2012
9
Mitochondrial disorders of DNA polymerase I^ dysfunction: from anatomic to molecular pathology diagnosis. (21732785)
2011
10
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (20843780)
2011
11
Mitochondrial disorders in the perinatal period. (21665560)
2011
12
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. (21855655)
2011
13
Hearing loss in children with mitochondrial disorders. (21982076)
2011
14
Mitochondrial disorders and the eye. (21730846)
2011
15
An overview of a cohort of South African patients with mitochondrial disorders. (20135231)
2010
16
Drug management in emergent liver transplantation of mitochondrial disorder carriers: review of the literature. (20141521)
2010
17
Mitochondrial disorder with OPA1 mutation lacking optic atrophy. (19303950)
2009
18
Peripheral neuropathies due to mitochondrial disorders]. (19942242)
2009
19
Central nervous system imaging in mitochondrial disorders. (19378706)
2009
20
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. (19460299)
2009
21
Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. (18056133)
2008
22
Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols. (16619117)
2006
23
Mitochondrial disorders in chagasic cardiomyopathy. (15769630)
2005
24
Basal Ganglia calcification in mitochondrial disorders. (16167199)
2005
25
Neuroimaging of mitochondrial disorders. (16120407)
2004
26
The epidemiology of mitochondrial disorders--past, present and future. (15576042)
2004
27
New approaches to the treatment of mitochondrial disorders. (14759282)
2004
28
Mitochondrial disorders: prevalence, myths and advances. (15190193)
2004
29
Nuclear genes in mitochondrial disorders. (12787788)
2003
30
Alteration of nucleotide metabolism: a new mechanism for mitochondrial disorders. (12940507)
2003
31
Rod photoreceptor function in children with mitochondrial disorders. (12149059)
2002
32
Mitochondrial disorders. (12597054)
2002
33
Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features. (12512338)
2002
34
Mitochondrial disorders: a potentially under-recognized etiology of infantile spasms. (12150585)
2002
35
The "new" mitochondrial disorders. (11796760)
2002
36
Mitochondrial tubulopathy: the many faces of mitochondrial disorders. (11511982)
2001
37
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. (11335700)
2001
38
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. (11596783)
2001
39
The expanding spectrum of nuclear gene mutations in mitochondrial disorders. (11735375)
2001
40
Neurologic presentations of mitochondrial disorders. (10641610)
2000
41
Auditory neuropathy and a mitochondrial disorder in a child: case study. (10522621)
1999
42
Multiple presentation of mitochondrial disorders. (10451392)
1999
43
Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders. (9384601)
1998
44
Sideroblastic anemia: a mitochondrial disorder. (9256823)
1997
45
Mitochondrial disorders. (8894413)
1996
46
Endomyocardial biopsies for early detection of mitochondrial disorders in hypertrophic cardiomyopathies. (8301427)
1994
47
Proton magnetic resonance spectroscopy studies in lactic acidosis and mitochondrial disorders. (8412023)
1993
48
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. (8454287)
1993
49
Mitochondrial disorders in pediatrics. Clinical, biochemical, and genetic implications. (1553246)
1992
50
The mitochondrial disorders : pathogenesis and aetiological classification. (6890149)
1982

Variations for Mitochondrial Disorders

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Mitochondrial Disorders:

1
id Gene Name Type Significance SNP ID Assembly Location
1MT-TWm.5521G> Asingle nucleotide variantPathogenicrs199474673GRCh37Chr MT, 5521: 5521
2MT-TMm.4409T> Csingle nucleotide variantPathogenicrs118203884GRCh37Chr MT, 4409: 4409
3MT-TL2m.12320A> Gsingle nucleotide variantPathogenicrs121434463GRCh37Chr MT, 12320: 12320
4MT-TAm.5591G> Asingle nucleotide variantPathogenicrs121434458GRCh37Chr MT, 5591: 5591

Expression for genes affiliated with Mitochondrial Disorders

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2BioGPS, 16Gene 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

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51PathCards, 56Reactome, 31KEGG, 39NCBI BioSystems Database
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Compounds for genes affiliated with Mitochondrial Disorders

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25HMDB, 46Novoseek, 12DrugBank
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Compounds related to Mitochondrial Disorders according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Ubiquinol 82510.4MT-ND6, MT-ND4
2Sulfide2510.3MT-ND6, MT-ND4
3QH22510.2MT-ND4, MT-ND6
4Ubiquinone Q12510.2MT-ND6, MT-ND4
5nadh46 25 1212.1MT-ATP6, MT-ND6, MT-ND4
6Ubiquinone Q22510.1MT-ND6, MT-ND4
7isoleucine469.9MT-ND6, MT-ND4

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet