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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10DISEASES, 19GeneReviews, 20GeneTests, 22GTR, 44Novoseek, 60UMLS, 43NINDS
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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
Gastrointestinal and hepatic manifestations of mitochondrial disorders. (23674168)
2013
2
Drug development for rare mitochondrial disorders. (23430661)
2013
3
Peripheral neuropathy in mitochondrial disorders. (24050734)
2013
4
Towards the harmonization of outcome measures in children with mitochondrial disorders. (23489006)
2013
5
Extracellular signal-regulated kinase is involved in alpha-synuclein-induced mitochondrial dynamic disorders by regulating dynamin-like protein 1. (22445325)
2012
6
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
7
Nuclear gene defects in mitochondrial disorders. (22215538)
2012
8
Relevance of the inner mitochondrial membrane enzyme F1F0-ATPase as an autoantigen in autoimmune liver disorders. (22098431)
2012
9
Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. (22819233)
2012
10
Therapy for mitochondrial disorders: little proof, high research activity, some promise. (21676668)
2011
11
A randomized trial of coenzyme Q10 in mitochondrial disorders. (20886510)
2010
12
Expression analyses of the mitochondrial complex I 75-kDa subunit in early onset schizophrenia and autism spectrum disorder: increased levels as a potential biomarker for early onset schizophrenia. (19894076)
2010
13
High-throughput assay to measure oxygen consumption in digitonin-permeabilized cells of patients with mitochondrial disorders. (20044447)
2010
14
Peripheral neuropathies due to mitochondrial disorders]. (19942242)
2009
15
Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. (19290059)
2009
16
Pathogenesis and treatment of mitochondrial disorders. (20225024)
2009
17
OXPHOS gene expression and control in mitochondrial disorders. (19389473)
2009
18
Expression of mitochondrial complex I subunit gene NDUFV2 in the lymphoblastoid cells derived from patients with bipolar disorder and schizophrenia. (19135101)
2009
19
Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders. (19147801)
2009
20
Mitochondrial disorders, cognitive impairment and dementia. (19268975)
2009
21
Evidence implicating the candidate schizophrenia/bipolar disorder susceptibility gene G72 in mitochondrial function. (17684499)
2008
22
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. (17273968)
2007
23
The aerobic forearm exercise test, a non-invasive tool to screen for mitochondrial disorders. (18072335)
2007
24
A high predisposition to depression and anxiety in mothers and other matrilineal relatives of children with presumed maternally inherited mitochondrial disorders. (15965966)
2005
25
Mitochondrial membrane potential and ATP production in primary disorders of ATP synthase. (20021115)
2004
26
Mitochondrial disorders. (14501842)
2003
27
Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder. (12815743)
2003
28
Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children. (12427891)
2002
29
Mitochondrial disorders and exertional intolerance: controversy continues. (12118471)
2002
30
Mouse models for disorders of mitochondrial fatty acid beta-oxidation. (11917157)
2002
31
Peripheral neuropathy associated with mitochondrial disorders: 8 cases and review of the literature. (12477166)
2002
32
Phenotypic dichotomy in mitochondrial complex II genetic disorders. (11692162)
2001
33
Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options. (11579429)
2001
34
Mitochondrial disorders. (11073358)
2000
35
Auditory neuropathy and a mitochondrial disorder in a child: case study. (10522621)
1999
36
Personality profiles of mothers of children with mitochondrial disorders. (10399094)
1999
37
A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G. (10441332)
1999
38
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
39
Mitochondrial disorders and the kidney. (9623410)
1998
40
Recent developments in the molecular genetics of mitochondrial disorders. (9511882)
1998
41
Functional evaluation techniques in mitochondrial disorders. (9520066)
1998
42
Sideroblastic anemia: a mitochondrial disorder. (9256823)
1997
43
Lactic acidosis and other mitochondrial disorders. (9054475)
1997
44
Prospects for DNA-based prenatal diagnosis of mitochondrial disorders. (9061755)
1996
45
Genetic epidemiologic methods to screen for matrilineal inheritance in mitochondrial disorders. (8968717)
1996
46
New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders. (7957387)
1994
47
X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder. (8454287)
1993
48
Mitochondrial disorders in muscle. (8428062)
1993
49
Is acquired idiopathic sideroblastic anemia (AISA) a disorder of mitochondrial DNA? (8255108)
1993
50
Mitochondrial disorders. (6375929)
1983

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