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 10 12
 
Mitochondrial Encephalomyopathies 36 24 65

Classifications:



External Ids:

Disease Ontology10 DOID:890
SNOMED-CT59 447292006
MeSH36 D017237
UMLS65 C0162666

Summaries for Mitochondrial Encephalomyopathy

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Wikipedia:68 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 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes and mitochondrial disorders. An important gene associated with Mitochondrial Encephalomyopathy is MT-ND5 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5), and among its related pathways are Cardiac muscle contraction and Metabolism. Affiliated tissues include heart, brain and myeloid.

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 70)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes33.3MT-ND1, MT-ND4, MT-ND5, MT-ND6
2mitochondrial disorders32.2MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
3severe x-linked mitochondrial encephalomyopathy12.3
4fastkd2-related infantile mitochondrial encephalomyopathy12.0
5melas syndrome12.0
6encephalomyopathy11.6
7succinate-coa ligase deficiency11.0
8lactic acidosis10.7
9parkinson disease 6, early onset10.4MT-ND5, MT-ND6
10cerebritis10.2
11cardiomyopathy10.2
12lens subluxation10.2MT-CYB, MT-ND1
13familial adenomatous polyposis10.2MT-CYB, MT-ND4
14cardiomyopathy, hypertrophic 610.2MT-CYB, MT-ND5
15kearns-sayre syndrome10.2
16visual epilepsy10.2MT-ND4, MT-ND5, MT-ND6
17ledderhose disease10.1MT-ND1, MT-ND4, MT-ND6
18morbid obesity and spermatogenic failure10.1MT-ND4, MT-ND6
19alcoholic cardiomyopathy10.1MT-CYB, MT-ND5, MT-ND6
20myoclonus10.1
21cholesteatoma of external ear10.0MT-ND4, NDUFA1
22sleep apnea10.0
23hypoparathyroidism10.0
24choroiditis10.0
25hypertrophic cardiomyopathy10.0
26pancreatitis10.0
27ophthalmoplegia10.0
28muscular dystrophy10.0
29aminoacidopathies10.0
30gemistocytic astrocytoma9.9MT-ND5, MT-ND6, NDUFA1
31lipid-rich carcinoma9.9MT-ND1, MT-ND4, MT-ND5, MT-ND6
32fumarase deficiency9.8
33retinoblastoma9.8
34cataract9.8
35cerebral hemorrhage9.8
36focal segmental glomerulosclerosis9.8
37pearson syndrome9.8
38atrioventricular block9.8
39glomerulosclerosis9.8
40sensorineural hearing loss9.8
41leukodystrophy9.8
42fanconi syndrome9.8
43open-angle glaucoma9.8
44heart disease9.8
45dementia9.8
46amenorrhea9.8
47superior mesenteric artery syndrome9.8
48mutism9.8
49intestinal obstruction9.8
50polyhydramnios9.8

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 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunologic FactorsPhase 418483
2VaccinesPhase 46085
3Insulin, Globin ZincPhase 44278
4insulinPhase 44278
5
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
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]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
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
β-MEA
β-aminoethylthiol
6AntioxidantsPhase 2, Phase 02442
7Protective AgentsPhase 2, Phase 05651
8idebenonePhase 219
9arginineNutraceuticalPhase 2, Phase 0364
10
Nitric OxideapprovedPhase 056410102-43-9145068
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)
Inomax
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
11Peripheral Nervous System AgentsPhase 018510
12Vasodilator AgentsPhase 02926
13Respiratory System AgentsPhase 03931
14Endothelium-Dependent Relaxing FactorsPhase 0225
15Anti-Asthmatic AgentsPhase 02796
16Bronchodilator AgentsPhase 02377
17Neurotransmitter AgentsPhase 014795
18pyruvateNutraceutical30

Interventional clinical trials:

(show all 14)
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
3L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS SyndromeCompletedNCT01603446Phase 2
4Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like EpisodesActive, not recruitingNCT00887562Phase 2
5Evaluating the Effectiveness of a Dichloroacetate in MELAS SyndromeActive, not recruitingNCT00068913Phase 2
6A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
7A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
8MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety StudyRecruitingNCT02427178Phase 1
9Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Phase 0
10Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
11Nitric Oxide Production in MELAS SyndromeCompletedNCT01339494Phase 0
12Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791
13Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
14North 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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Anatomical Context for Mitochondrial Encephalomyopathy

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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

33
Heart, Brain, Myeloid, Prostate, Bone, Skeletal muscle, Breast

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 254)
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
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. (23993194)
2013
5
Mitochondrial encephalomyopathy due to a novel mutation in ACAD9. (23836383)
2013
6
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
7
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (21076841)
2011
8
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. (22611618)
2011
9
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
10
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
11
Identification of novel mutations in five patients with mitochondrial encephalomyopathy. (18977334)
2009
12
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
13
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
14
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
15
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
16
An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. (11506313)
2001
17
Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy. (11928899)
2001
18
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)
2000
19
Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). (10233312)
1999
20
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
21
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
22
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
23
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
24
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)
1997
25
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency. (8739952)
1996
26
Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. (8918062)
1996
27
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
28
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)
1995
29
Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. (7487448)
1995
30
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
31
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
32
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
33
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
34
Corticosteroid responsive mitochondrial encephalomyopathy. (8297286)
1993
35
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. (1471529)
1992
36
Central nervous system changes in mitochondrial encephalomyopathy: light and electron microscopic study. (1575024)
1992
37
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
38
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
39
HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). (2213201)
1990
40
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
41
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
42
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases. (2537772)
1989
43
Increased accumulation of N-isopropyl-p-(123I)-iodoamphetamine in two cases with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). (2636890)
1989
44
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
45
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
46
Involvement of choroid plexus in mitochondrial encephalomyopathy (MELAS) (3176907)
1988
47
Diagnosis and follow-up of mitochondrial encephalomyopathy: CT and MR studies. (3392284)
1988
48
Biochemical studies in mitochondrial encephalomyopathy. (3681314)
1987
49
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986
50
Mitochondrial encephalomyopathy: fluctuating symptoms and CT. (6493493)
1984

Variations for Mitochondrial Encephalomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1ATP synthesis coupled electron transportGO:004277310.2MT-ND4, MT-ND5
2mitochondrial electron transport, NADH to ubiquinoneGO:000612010.2MT-ND4, MT-ND5
3hydrogen ion transmembrane transportGO:19026009.9MT-CO3, MT-CYB
4response to ethanolGO:00454719.8MT-CYB, MT-ND4
5oxidation-reduction processGO:00551148.9AIFM1, MT-ND1, MT-ND4, MT-ND5, MT-ND6

Sources for Mitochondrial Encephalomyopathy

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet