MCID: MTC004
MIFTS: 37

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 lung, heart and breast.

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 221)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes33.8MT-ND1, MT-ND4, MT-ND5, MT-ND6
2mitochondrial disorders32.7MT-CO3, MT-ND1, MT-ND4, MT-ND5, MT-ND6
3severe x-linked mitochondrial encephalomyopathy12.5
4fastkd2-related infantile mitochondrial encephalomyopathy12.4
5melas syndrome12.2
6encephalomyopathy11.4
7succinate-coa ligase deficiency11.4
8endotheliitis10.3
9leukemia10.3
10cerebritis10.3
11neuronitis10.3
12parkinson disease 6, early onset10.3MT-ND5, MT-ND6
13myeloma10.2
14goiter10.2
15endemic goiter10.2
16prostatitis10.2
17gingivitis10.2
18prostate cancer10.1
19breast cancer10.1
20obesity10.1
21chordoma10.1
22retinoblastoma10.1
23osteoarthritis10.1
24sinusitis10.1
25thalassemia10.1
26hypertrophic cardiomyopathy10.1
27cervicitis10.1
28ischemia10.1
29retinitis10.1
30influenza10.1
31mastocytosis10.1
32cardiomyopathy10.1
33whiplash10.1
34lens subluxation10.1MT-CYB, MT-ND1
35familial adenomatous polyposis10.1MT-CYB, MT-ND4
36cardiomyopathy, hypertrophic 610.1MT-CYB, MT-ND5
37visual epilepsy10.1MT-ND4, MT-ND5, MT-ND6
38ledderhose disease10.1MT-ND1, MT-ND4, MT-ND6
39morbid obesity and spermatogenic failure10.1MT-ND4, MT-ND6
40alcoholic cardiomyopathy10.1MT-CYB, MT-ND5, MT-ND6
41cholesteatoma of external ear10.0MT-ND4, NDUFA1
42neuroblastoma10.0
43myocardial infarction10.0
44porphyria cutanea tarda10.0
45systemic lupus erythematosus10.0
46factor v deficiency10.0
47asthma10.0
48d-2-hydroxyglutaric aciduria10.0
49coronary artery disease10.0
50esophageal cancer10.0

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
╬▓-MEA
╬▓-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
Lung, Heart, Breast, Brain, T cells, Myeloid, Bone

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 249)
idTitleAuthorsYear
1
Successful Treatment of a Progressive BRAF V600E-Mutated Anaplastic Pleomorphic Xanthoastrocytoma With Vemurafenib Monotherapy. (25092772)
2014
2
Hypercalcaemia: atypical presentation of miliary tuberculosis. (24569260)
2014
3
Photodynamic therapy suppresses tumor growth in an in vivo model of human hemangioma. (23784382)
2014
4
Second malignancies in chronic lymphocytic leukemia. (24368244)
2014
5
Pak1 kinase links ErbB2 to I^-catenin in transformation of breast epithelial cells. (23576562)
2013
6
Associated factors and psychotherapy on sleep disturbances in systemic lupus erythematosus. (24080701)
2013
7
Efficacy of omega-3 fatty acids in the treatment of borderline personality disorder: A study of the association with valproic acid. (24196948)
2013
8
The prometastatic ribosomal S6 kinase 2-cAMP response element-binding protein (RSK2-CREB) signaling pathway up-regulates the actin-binding protein fascin-1 to promote tumor metastasis. (24085294)
2013
9
Early NT-proBNP Decrease With Ivabradine in Ambulatory Patients With Systolic Heart Failure. (23929789)
2013
10
Coincidence of primary hyperparathyroidism and nonmedullary thyroid carcinoma. (23757116)
2013
11
Correction: Investigating the Effects of Food Available and Climatic Variables on the Animal Host Density of Hemorrhagic Fever with Renal Syndrome in Changsha, China. (24058426)
2013
12
Central-provincial relations for anti-schistosomiasis policy in china. (23113188)
2012
13
Human miR-31 targets radixin and inhibits migration and invasion of glioma cells. (22089331)
2012
14
An alternate delivery system improves vaccine performance against foot-and-mouth disease virus (FMDV). (22387223)
2012
15
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
16
Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. (23086396)
2012
17
Inhibition of the ethanol-induced potentiation of I+1 glycine receptor by a small peptide that interferes with GI^I^ binding. (23035114)
2012
18
A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia. (22558097)
2012
19
Prevalence of Barrett esophagus in first-degree relatives of patients with esophageal adenocarcinoma. (21617543)
2011
20
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. (19903450)
2010
21
TLR3c.1377, TLR9-1486, and TLR9 2848 gene polymorphisms and multiple sclerosis]. (20197609)
2010
22
NCAM in neuropsychiatric and neurodegenerative disorders. (20017030)
2010
23
Pegfilgrastim vs filgrastim in primary prophylaxis of febrile neutropenia in patients with breast cancer after chemotherapy: a cost-effectiveness analysis for Germany]. (20180162)
2010
24
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. (20168238)
2010
25
A new way to classify genetic skin disease. (19826445)
2009
26
A pathway sensor for genome-wide screens of intracellular proteolytic cleavage. (18387192)
2008
27
TBP-1 protects the human oncosuppressor p14ARF from proteasomal degradation. (17334400)
2007
28
An evaluation of tumor oxygenation and gene expression in patients with early stage non-small cell lung cancers. (16533775)
2006
29
Dentin-pulp complex responses to carious lesions. (16707876)
2006
30
Percutaneous treatment of the superior vena cava syndrome via an excimer laser sheath in a patient with a single chamber atrial pacemaker. (17165133)
2006
31
Viral kinetics and early prediction of nonresponse to peg-IFN-alpha-2b plus ribavirin in HCV genotypes 1/4 according to HIV serostatus. (16792540)
2006
32
Report of an atypical case of leishmaniasis presented as acute tonsillitis in an immunocompetent patient. (16308231)
2005
33
Identification of an aberrantly spliced form of HDMX in human tumors: a new mechanism for HDM2 stabilization. (16266988)
2005
34
Is adiponectin level a predictor of nonalcoholic fatty liver disease in nondiabetic male patients? (16270401)
2005
35
Acute stress evokes selective mobilization of T cells that differ in chemokine receptor expression: a potential pathway linking immunologic reactivity to cardiovascular disease. (12831827)
2003
36
Regulation of biglycan gene expression by transforming growth factor-beta requires MKK6-p38 mitogen-activated protein Kinase signaling downstream of Smad signaling. (12538652)
2003
37
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. (12145747)
2002
38
Is the molecular composition of K(ATP) channels more complex than originally thought? (11448141)
2001
39
Molecular cloning and genomic structure of the betaTRCP2 gene on chromosome 5q35.1. (10694485)
2000
40
Relationships of TP53 codon 72 and HRAS1 polymorphisms with lung cancer risk in an ethnically diverse population. (11097227)
2000
41
Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. (9669814)
1998
42
Methemoglobinemia from topically applied anesthetic spray. (8065193)
1994
43
Overexpression of basic fibroblast growth factor complementary DNA in Ha-ras-transformed cells correlates with a decreased incidence of tumor necrosis. (8416740)
1993
44
Effect of conjugated estrogens on platelet function and prostacyclin generation in CRF. (1963650)
1990
45
Surgical treatment of medullary carcinoma of the thyroid. (1973281)
1990
46
Immunodiagnosis of rhodesiense sleeping sickness: detection of circulating trypanosomal antigens in sera and cerebrospinal fluid by enzyme immunoassay using a monoclonal antibody. (3058357)
1988
47
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
48
Human histocompatibility antigen associations in subacute cutaneous lupus erythematosus. (7451656)
1981
49
Cerebral nocardiosis in renal transplant patients. (7028203)
1981
50
The natural history of monocular amaurosis fugax. (5782087)
1969

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