MCID: MTC004
MIFTS: 39

Mitochondrial Encephalomyopathy malady

Categories: Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy

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Aliases & Descriptions for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 11 13
 
Mitochondrial Encephalomyopathies 25 37 66

Classifications:



External Ids:

Disease Ontology11 DOID:890
SNOMED-CT60 447292006
MeSH37 D017237

Summaries for Mitochondrial Encephalomyopathy

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Wikipedia:69 A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial... more...

MalaCards based summary: Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to myoclonic epilepsy associated with ragged-red fibers and fastkd2-related infantile mitochondrial encephalomyopathy. An important gene associated with Mitochondrial Encephalomyopathy is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include brain, skeletal muscle and heart.

Related Diseases for Mitochondrial Encephalomyopathy

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Diseases in the Mitochondrial Encephalomyopathy family:

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy

Diseases related to Mitochondrial Encephalomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 78)
idRelated DiseaseScoreTop Affiliating Genes
1myoclonic epilepsy associated with ragged-red fibers27.5MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6, MT-TK
2fastkd2-related infantile mitochondrial encephalomyopathy12.0
3mitochondrial disorders11.9
4mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes11.8
5encephalomyopathy11.6
6combined oxidative phosphorylation deficiency 611.3
7mitochondrial dna depletion syndrome 511.1
8lactic acidosis10.7
9alopecia, androgenetic, 210.5MT-ND1, MT-ND6
10parkinson disease 6, early onset10.5MT-ND5, MT-ND6
11extrapulmonary tuberculosis10.3MT-CYB, MT-ND1
12clubfoot10.3MT-ND4, MT-ND5, MT-ND6
13morbid obesity and spermatogenic failure10.3MT-ND4, MT-ND6
14congenital aphakia10.2MT-CYB, MT-ND1
15paroxysomal nonkinesigenic dyskinesia10.2MT-ND1, MT-ND4, MT-ND6
16restless legs syndrome10.2MT-CYB, MT-ND4
17cerebritis10.2
18cardiomyopathy10.2
19kearns-sayre syndrome10.2
20childhood electroclinical syndrome10.1MT-ND4, MT-TK
21childhood cerebral astrocytoma10.1MT-ND5, MT-ND6, MT-TK
22epilepsy10.1
23myoclonus10.1
24cardiomyopathy, hypertrophic 610.0MT-CYB, MT-ND5
25mental retardation, obesity, mandibular prognathism, and eye and skin anomalies10.0MT-TK, MT-TL1
26enchondroma10.0AIFM1, MT-CO3, MT-ND5, MT-ND6
27sleep apnea10.0
28hypoparathyroidism10.0
29choroiditis10.0
30hypertrophic cardiomyopathy10.0
31pancreatitis10.0
32muscular dystrophy10.0
33aminoacidopathies10.0
34mesp2-related spondylocostal dysostosis, autosomal recessive10.0MT-TK, MT-TL1
35sparganosis9.9MT-ND5, MT-TL1
36mitochondrial complex i deficiency9.9MT-ND1, MT-ND4, MT-ND5, MT-ND6
37fumarase deficiency9.8
38retinoblastoma9.8
39cataract9.8
40cerebral hemorrhage9.8
41focal segmental glomerulosclerosis9.8
42pearson syndrome9.8
43atrioventricular block9.8
44glomerulosclerosis9.8
45sensorineural hearing loss9.8
46leukodystrophy9.8
47fanconi syndrome9.8
48open-angle glaucoma9.8
49heart disease9.8
50dementia9.8

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



Diseases related to mitochondrial encephalomyopathy

Symptoms for Mitochondrial Encephalomyopathy

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Drugs & Therapeutics for Mitochondrial Encephalomyopathy

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Drugs for Mitochondrial Encephalomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 44401
2
CysteaminePhase 2, Phase 32660-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
Decarboxycysteine
DivK1c_006750
 
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol
3UbiquinonePhase 2132
4idebenonePhase 22158186-27-9
5arginineNutraceuticalPhase 2, Phase 0393
6
Nitric OxidePhase 058510102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
7pyruvateNutraceutical34

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)CompletedNCT01831934Phase 4
2Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
3Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like EpisodesCompletedNCT00887562Phase 2
4L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS SyndromeCompletedNCT01603446Phase 2
5The KHENERGY StudyRecruitingNCT02909400Phase 2
6Evaluating the Effectiveness of a Dichloroacetate in MELAS SyndromeActive, not recruitingNCT00068913Phase 2
7A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
8A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
9MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyRecruitingNCT02427178Phase 1
10Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Phase 0
11Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
12Nitric Oxide Production in MELAS SyndromeCompletedNCT01339494Phase 0
13Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791
14Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
15North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940

Search NIH Clinical Center for Mitochondrial Encephalomyopathy


Cochrane evidence based reviews: mitochondrial encephalomyopathies

Genetic Tests for Mitochondrial Encephalomyopathy

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Genetic tests related to Mitochondrial Encephalomyopathy:

id Genetic test Affiliating Genes
1 Mitochondrial Encephalomyopathy25

Anatomical Context for Mitochondrial Encephalomyopathy

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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

34
Brain, Skeletal muscle, Heart, Cortex, Pituitary, Skin, Endothelial

Animal Models for Mitochondrial Encephalomyopathy or affiliated genes

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Publications for Mitochondrial Encephalomyopathy

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Articles related to Mitochondrial Encephalomyopathy:

(show top 50)    (show all 255)
idTitleAuthorsYear
1
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. (26954033)
2016
2
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. (25934856)
2015
3
Mitochondrial encephalomyopathy: towards diagnosis. A case report. (24636775)
2014
4
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. (24828681)
2014
5
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
6
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (21076841)
2011
7
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. (22611618)
2011
8
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (19095975)
2009
9
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes in a 69-year-old woman. (18613903)
2008
10
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations. (17287286)
2007
11
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
12
Excessive fragmentary hypnic myoclonus in a patient affected by a mitochondrial encephalomyopathy. (17097919)
2006
13
Mitochondrial encephalomyopathy with lactic acidosis and stroke (MELAS). (16400302)
2005
14
Episodic hyponatremia in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS). (15794176)
2005
15
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
16
Mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS): a mitochondrial disorder presents as fibromyalgia. (15180033)
2004
17
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
18
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
19
Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy. (11928899)
2001
20
A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring. (10090475)
1999
21
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
22
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
23
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
24
SPECT findings in mitochondrial encephalomyopathy. (9627326)
1998
25
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
26
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)
1997
27
An adult with inherited mitochondrial encephalomyopathy: report of a case. (9366478)
1997
28
Histological determination of nitric oxide synthase (NOS) and NADPH-diaphorase in ragged-red fibers from patients with mitochondrial encephalomyopathies. (9171323)
1997
29
Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. (8918062)
1996
30
Mitochondrial encephalomyopathies preceded by de-Toni-DebrAc-Fanconi syndrome or focal segmental glomerulosclerosis. (8953126)
1996
31
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
32
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
33
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
34
Mitochondrial encephalomyopathy: a rare genetic cause of sensorineural hearing loss. (7574256)
1995
35
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (7988784)
1994
36
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
37
Mitochondrial encephalomyopathy: correlation of P-31 exercise MR spectroscopy with clinical findings. (8208943)
1994
38
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
39
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
40
Mitochondrial encephalomyopathy presenting with clinical Leigh's disease: report of a case. (1848464)
1991
41
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
42
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
43
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
44
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
45
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with special reference to the mechanism of cerebral manifestations. (2515713)
1989
46
Diagnosis and follow-up of mitochondrial encephalomyopathy: CT and MR studies. (3392284)
1988
47
Brain metabolism in mitochondrial encephalomyopathy: a PET study. (3262636)
1988
48
Alterations of oligodendrocytes and demyelination in the spinal cord of patients with mitochondrial encephalomyopathy. (3171595)
1988
49
An autopsy case of mitochondrial encephalomyopathy: biochemical and electron microscopic studies of the brain. (2844999)
1988
50
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986

Variations for Mitochondrial Encephalomyopathy

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Clinvar genetic disease variations for Mitochondrial Encephalomyopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MFFNM_020194.5(MFF): c.190C> T (p.Gln64Ter)single nucleotide variantLikely pathogenic, Pathogenicrs397514615GRCh37Chr 2, 228195493: 228195493

Copy number variations for Mitochondrial Encephalomyopathy from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12675210116569Copy numberMitochondrial encephalomyopathy

Expression for genes affiliated with Mitochondrial Encephalomyopathy

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Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy.

Pathways for genes affiliated with Mitochondrial Encephalomyopathy

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GO Terms for genes affiliated with Mitochondrial Encephalomyopathy

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Cellular components related to Mitochondrial Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:000574710.2MT-ND1, MT-ND4, MT-ND5
2mitochondrial intermembrane spaceGO:00057589.9AIFM1, FBXL4
3mitochondrial inner membraneGO:00057438.1AIFM1, MT-CO3, MT-CYB, MT-ND1, MT-ND4, MT-ND5
4mitochondrionGO:00057397.4AIFM1, FASTKD2, MT-CO3, MT-CYB, MT-ND1, MT-ND4

Biological processes related to Mitochondrial Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1response to hydrogen peroxideGO:00425429.9MT-ND5, MT-ND6
2response to organonitrogen compoundGO:00102439.9MT-CYB, MT-ND5
3response to nicotineGO:00350949.9MT-ND4, MT-ND6
4hydrogen ion transmembrane transportGO:19026009.8MT-CO3, MT-CYB
5mitochondrial respiratory chain complex I assemblyGO:00329819.7MT-ND1, MT-ND4, MT-ND5, MT-ND6
6mitochondrial electron transport, NADH to ubiquinoneGO:00061209.2MT-ND1, MT-ND4, MT-ND5, MT-ND6

Molecular functions related to Mitochondrial Encephalomyopathy according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.3MT-ND1, MT-ND4, MT-ND5, MT-ND6

Sources for Mitochondrial Encephalomyopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet