MCID: MTC069
MIFTS: 47

Mitochondrial Disorders malady

Summaries for Mitochondrial Disorders

About this section
Sources:
43NINDS, 63Wikipedia, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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

About this section
Sources:
19GeneReviews, 20GeneTests, 22GTR, 43NINDS, 10DISEASES, 44Novoseek, 60UMLS
See all sources

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section

Drugs & Therapeutics for Mitochondrial Disorders

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

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

About this section
Sources:
20GeneTests, 22GTR
See all sources

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

About this section
Sources:
32MalaCards
See all sources

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

About this section

Publications for Mitochondrial Disorders

About this section
Sources:
50PubMed
See all sources

Articles related to Mitochondrial Disorders:

(show top 50)    (show all 407)
idTitleAuthorsYear
1
Next generation molecular diagnosis of mitochondrial disorders. (23473862)
2013
2
Developing outcome measures for pediatric mitochondrial disorders: which complaints and limitations are most burdensome to patients and their parents? (23164801)
2013
3
Monogenic mitochondrial disorders. (22435372)
2012
4
CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders. (22274133)
2012
5
Transcriptome analysis in mitochondrial disorders. (21856382)
2012
6
Management of patients with dental disease and mitochondrial disorders. (23479854)
2012
7
Bezafibrate can be a new treatment option for mitochondrial fatty acid oxidation disorders: evaluation by in vitro probe acylcarnitine assay. (22841441)
2012
8
Mitochondrial disorders in the perinatal period. (21665560)
2011
9
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. (21855655)
2011
10
Mitochondrial disorders and the eye. (21730846)
2011
11
Neonatal muscular manifestations in mitochondrial disorders. (21596636)
2011
12
POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. (22084276)
2011
13
Parkinson's syndrome and Parkinson's disease in mitochondrial disorders. (21384429)
2011
14
Mitochondrial disorders in NSAIDs-induced small bowel injury. (21373263)
2011
15
Molecular genetics of mitochondrial disorders. (20818730)
2010
16
Treating psychiatric illness in patients with mitochondrial disorders. (20332296)
2010
17
Mitochondrial fatty acid oxidation disorders. Proceedings of an international symposium. October 2008. Fulda, Germany. (21275107)
2010
18
A technical surgery for refractory gastroparesis in a patient with a mitochondrial disorder. (20425116)
2010
19
Association study on the mitochondrial gene NDUFV2 and bipolar disorder in the Chinese Han population. (19194776)
2009
20
Children's toxicology from bench to bed--Liver Injury (4): Mitochondrial respiratory chain disorder and liver disease in children. (19571475)
2009
21
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders. (19422814)
2009
22
Pathogenic mutations of nuclear genes associated with mitochondrial disorders. (19280056)
2009
23
Anesthesia and mitochondrial disorders. (19076514)
2009
24
The clinical spectrum of mitochondrial genetic disorders. (19149282)
2008
25
Quantitative analysis of the 4977-bp common deletion of mitochondrial DNA in postmortem frontal cortex from patients with bipolar disorder and schizophrenia. (18514404)
2008
26
Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. (18056133)
2008
27
Neuroanatomical pattern of mitochondrial complex I pathology varies between schizophrenia, bipolar disorder and major depression. (18989376)
2008
28
Mitochondrial disorders and general anaesthesia: a case series and review. (18285393)
2008
29
Effects of menadione and its derivative on cultured cardiomyocytes with mitochondrial disorders. (15893762)
2005
30
The early-onset phenotype of mitochondrial trifunctional protein deficiency: a lethal disorder with multiple tissue involvement. (15243991)
2004
31
Mitochondrial disorders. (15358637)
2004
32
Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach. (15126301)
2004
33
Mitochondrial control of neuron death and its role in neurodegenerative disorders. (14649878)
2003
34
A sensitive and simplified method to analyze free fatty acids in children with mitochondrial beta oxidation disorders using gas chromatography/mass spectrometry and dried blood spots. (11750281)
2002
35
Neurologic presentations of mitochondrial disorders. (10641610)
2000
36
Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders. (10699115)
2000
37
A pathogenesis-based classification scheme for mitochondrial disorders. (10659173)
1999
38
Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations. (9561330)
1998
39
Functional involvement of central nervous system in mitochondrial disorders. (9216485)
1997
40
In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique. (9266222)
1997
41
Mitochondrial disorders. (9239718)
1997
42
tRNA processing in human mitochondrial disorders. (8901509)
1995-1996
43
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. (8164833)
1994
44
Wolfram syndrome: mitochondrial disorder. (8105296)
1993
45
Wolfram syndrome: a mitochondrial-mediated disorder? (8102726)
1993
46
Clinical aspects of mitochondrial disorders. (1528005)
1992
47
Confocal scanning laser microscopy of mitochondria: a possible tool in the diagnosis of mitochondrial disorders. (1861458)
1991
48
Mitochondrial encephalomyopathy (MELAS) with mental disorder. CT, MRI and SPECT findings. (2333139)
1990
49
Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. (2823522)
1987
50
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. (6267500)
1981

Genetic Variations for Mitochondrial Disorders

About this section

Expression for genes affiliated with Mitochondrial Disorders

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
53Reactome, 29KEGG, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Mitochondrial Disorders

About this section
Sources:
28IUPHAR, 24HMDB, 44Novoseek, 11DrugBank
See all sources

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

About this section

Products for genes affiliated with Mitochondrial Disorders

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mitochondrial Disorders

About this section
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