MCID: MTC069
MIFTS: 55

Mitochondrial Disorders malady

Genetic diseases, Metabolic diseases, Rare diseases categories

Summaries for Mitochondrial Disorders

About this section


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 based summary: Mitochondrial Disorders, also known as mitochondrial myopathies, is related to chronic progressive external ophthalmoplegia and lactic acidosis, and has symptoms including macroglossia, muscular hypotonia and hyporeflexia. An important gene associated with Mitochondrial Disorders is MT-TW (mitochondrially encoded tRNA tryptophan), and among its related pathways is tRNA Aminoacylation. The compounds Ubiquinol 8 and Sulfide have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and heart.

Wikipedia:65 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:
62UMLS, 21GeneReviews, 22GeneTests, 45Novoseek, 44NINDS, 12DISEASES, 24GTR
See all sources

Mitochondrial Disorders, Aliases & Descriptions:

Name: Mitochondrial Disorders 21 22 62
Mitochondrial Myopathies 21 44 45 62
Mitochondrial Encephalomyopathies 21 45 62
Mitochondrial Diseases 45 24 62
Mitochondrial Myopathy 12 24
 
Mitochondrial Respiratory Chain Deficiencies 62
Oxidative Phosphorylation Disorders 21
Mitochondrial Encephalomyopathy 62
Respiratory Chain Deficiency 45
Respiratory Chain Disorders 21


Classifications:



Related Diseases for Mitochondrial Disorders

About this section

Diseases in the Mitochondrial Disorders family:

Rrm2b-Related Mitochondrial Disease Fatal Multiple Mitochondrial Dysfunction Syndrome
Fatal Multiple Mitochondrial Dysfunction Syndrome Type 1 Fatal Multiple Mitochondrial Dysfunction Syndrome Type 2

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

(show top 50)    (show all 173)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia30.6POLG
2lactic acidosis30.4MT-ND4, POLG
3leber hereditary optic neuropathy30.1MT-ND4, MT-ND6
4mitochondrial encephalomyopathy29.9POLG
5mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes29.9MT-ND6, MT-ND4
6leigh syndrome29.9MT-ND6, MT-ND4
7mitochondrial myopathy and sideroblastic anemia 110.6
8mitochondrial myopathy with lactic acidosis10.5
9kearns-sayre syndrome10.5
10severe x-linked mitochondrial encephalomyopathy10.5
11mitochondrial myopathy with diabetes10.4
12mitochondrial myopathy with reversible cytochrome c oxidase deficiency10.4
13mitochondrial complex iv deficiency10.4
14lethal infantile mitochondrial myopathy10.4
15pure mitochondrial myopathy10.3
16adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.3
17neuropathy10.3
18choroiditis10.3
19hypoparathyroidism10.3
20ophthalmoplegia10.3
21pancreatitis10.3
22sleep apnea10.3
23aminoacidopathies10.3
24fastkd2-related infantile mitochondrial encephalomyopathy10.3
25zellweger syndrome10.3
26peripheral neuropathy10.2
27cardiac tamponade10.2
28intestinal pseudo-obstruction10.2
29mitochondrial neurogastrointestinal encephalopathy disease10.2
30pulmonary hypertension10.1
31myopathy10.1
32ataxia10.1
33mitochondrial complex i deficiency10.1
34fumarase deficiency10.1
35retinoblastoma10.1
36cataract10.1
37cerebral hemorrhage10.1
38focal segmental glomerulosclerosis10.1
39fanconi syndrome10.1
40mutism10.1
41sensorineural hearing loss10.1
42superior mesenteric artery syndrome10.1
43amenorrhea10.1
44atrioventricular block10.1
45glomerulosclerosis10.1
46herpes simplex10.1
47intestinal obstruction10.1
48leukodystrophy10.1
49open-angle glaucoma10.1
50myotonic dystrophy10.1

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



Diseases related to mitochondrial disorders

Symptoms for Mitochondrial Disorders

About this section

HPO human phenotypes related to Mitochondrial Disorders:

(show all 8)
id Description Frequency HPO Source Accession
1 macroglossia HP:0000158
2 muscular hypotonia HP:0001252
3 hyporeflexia HP:0001265
4 motor delay HP:0001270
5 muscle weakness HP:0001324
6 abnormality of metabolism/homeostasis HP:0001939
7 hepatomegaly HP:0002240
8 mitochondrial myopathy HP:0003737

Drugs & Therapeutics for Mitochondrial Disorders

About this section

Drug clinical trials:

Search ClinicalTrials for Mitochondrial Disorders

Search NIH Clinical Center for Mitochondrial Disorders

Genetic Tests for Mitochondrial Disorders

About this section

Genetic tests related to Mitochondrial Disorders:

id Genetic test Affiliating Genes
1 Mitochondrial Disorders22 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)22
3 Mitochondrial Disorders Multi-Gene Panels (nuclear Genes)22
4 Mitochondrial Diseases24
5 Mitochondrial Myopathy24

Anatomical Context for Mitochondrial Disorders

About this section

MalaCards organs/tissues related to Mitochondrial Disorders:

33
Eye, Brain, Heart, Liver, Skeletal muscle, Kidney, Pancreas, Skin, Testes

Animal Models for Mitochondrial Disorders or affiliated genes

About this section

Publications for Mitochondrial Disorders

About this section

Articles related to Mitochondrial Disorders:

(show top 50)    (show all 308)
idTitleAuthorsYear
1
Mitochondrial disorders and epilepsy. (24810279)
2014
2
Assessment of nuclear transfer techniques to prevent the transmission of heritable mitochondrial disorders without compromising embryonic development competence in mice. (25229667)
2014
3
Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome. (24453499)
2014
4
Inherited peripheral neuropathies due to mitochondrial disorders. (24768438)
2014
5
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders. (25251209)
2014
6
The development of next-generation sequencing assays for the mitochondrial genome and 108 nuclear genes associated with mitochondrial disorders. (23665194)
2013
7
Mutations in human DNA polymerase I^ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. (23208208)
2013
8
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders. (23838601)
2013
9
Increased prevalence of malignancy in adult mitochondrial disorders. (24868266)
2013
10
Decreased exhaled nitric oxide levels in patients with mitochondrial disorders. (23935767)
2013
11
Intervention to prevent transmission of mitochondrial disorders should be allowed, subject to safeguards, report says. (22693066)
2012
12
The psychiatric presentation of mitochondrial disorders in adults. (23224446)
2012
13
Cerebro-spinal fluid findings in mitochondrial disorders. (23000502)
2012
14
Monogenic mitochondrial disorders. (22435372)
2012
15
Mitochondrial disorders of DNA polymerase I^ dysfunction: from anatomic to molecular pathology diagnosis. (21732785)
2011
16
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing. (20843780)
2011
17
Mitochondrial disorders in the perinatal period. (21665560)
2011
18
Optimization of respiratory chain enzymatic assays in muscle for the diagnosis of mitochondrial disorders. (21855655)
2011
19
Hearing loss in children with mitochondrial disorders. (21982076)
2011
20
Mitochondrial disorders and the eye. (21730846)
2011
21
An overview of a cohort of South African patients with mitochondrial disorders. (20135231)
2010
22
Drug management in emergent liver transplantation of mitochondrial disorder carriers: review of the literature. (20141521)
2010
23
Mitochondrial disorder with OPA1 mutation lacking optic atrophy. (19303950)
2009
24
Peripheral neuropathies due to mitochondrial disorders]. (19942242)
2009
25
Mitochondrial disorders of the nuclear genome. (19772191)
2009
26
Central nervous system imaging in mitochondrial disorders. (19378706)
2009
27
Dealing with uncertainties: ethics of prenatal diagnosis and preimplantation genetic diagnosis to prevent mitochondrial disorders. (18056133)
2008
28
Lactate increase and oxygen desaturation in mitochondrial disorders--evaluation of two diagnostic screening protocols. (16619117)
2006
29
Mitochondrial disorders in chagasic cardiomyopathy. (15769630)
2005
30
Basal Ganglia calcification in mitochondrial disorders. (16167199)
2005
31
Neuroimaging of mitochondrial disorders. (16120407)
2004
32
The epidemiology of mitochondrial disorders--past, present and future. (15576042)
2004
33
New approaches to the treatment of mitochondrial disorders. (14759282)
2004
34
Mitochondrial disorders: prevalence, myths and advances. (15190193)
2004
35
Nuclear genes in mitochondrial disorders. (12787788)
2003
36
Rod photoreceptor function in children with mitochondrial disorders. (12149059)
2002
37
Mitochondrial disorders. (12597054)
2002
38
Mitochondrial tubulopathy: the many faces of mitochondrial disorders. (11511982)
2001
39
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. (11335700)
2001
40
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation. (11596783)
2001
41
Neurologic presentations of mitochondrial disorders. (10641610)
2000
42
Auditory neuropathy and a mitochondrial disorder in a child: case study. (10522621)
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

About this section

Clinvar genetic disease variations for Mitochondrial Disorders:

7
id Gene Variation Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.3488T> G (p.Met1163Arg)single nucleotide variantPathogenicrs113994100GRCh37Chr 15, 89860762: 89860762
2POLGNM_002693.2(POLG): c.3630dupC (p.Gly1211Argfs)duplicationPathogenicrs113994101GRCh37Chr 15, 89860619: 89860620
3POLGNM_002693.2(POLG): c.695G> A (p.Arg232His)single nucleotide variantPathogenicrs113994093GRCh37Chr 15, 89873472: 89873472
4MT-TWm.5521G> Asingle nucleotide variantPathogenicrs199474673GRCh37Chr MT, 5521: 5521
5MT-TMm.4409T> Csingle nucleotide variantPathogenicrs118203884GRCh37Chr MT, 4409: 4409
6MT-TL2m.12320A> Gsingle nucleotide variantPathogenicrs121434463GRCh37Chr MT, 12320: 12320
7MT-TAm.5591G> Asingle nucleotide variantPathogenicrs121434458GRCh37Chr MT, 5591: 5591

Expression for genes affiliated with Mitochondrial Disorders

About this section

Search GEO for disease gene expression data for Mitochondrial Disorders.

Pathways for genes affiliated with Mitochondrial Disorders

About this section

Pathways related to Mitochondrial Disorders according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.8MT-TC, MT-TW, MT-TL1, MT-TS1, MT-TV, MT-TA

Compounds for genes affiliated with Mitochondrial Disorders

About this section
Sources:
26HMDB, 45Novoseek
See all sources

Compounds related to Mitochondrial Disorders according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1Ubiquinol 82610.3MT-ND6, MT-ND4
2Sulfide2610.3MT-ND6, MT-ND4
3QH22610.2MT-ND6, MT-ND4
4Ubiquinone Q12610.2MT-ND6, MT-ND4
5Ubiquinone Q22610.1MT-ND4, MT-ND6
6isoleucine459.9MT-ND6, MT-ND4

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
  • Proteins
  • Kits and Assays

Sources for Mitochondrial Disorders

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet