Aliases & Classifications for Encephalomyopathy

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Aliases & Descriptions for Encephalomyopathy:

Name: Encephalomyopathy 45
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 45
 
Mitochondrial Encephalomyopathy Aminoacidopathy 45

Classifications:



Summaries for Encephalomyopathy

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Wikipedia:68 Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease of the brain. In modern usage,... more...

MalaCards based summary: Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes and mitochondrial disorders. An important gene associated with Encephalomyopathy is AIFM1 (Apoptosis Inducing Factor, Mitochondria Associated 1), and among its related pathways are TP53 Regulates Metabolic Genes and Cardiac muscle contraction. Affiliated tissues include brain, breast and lung.

Related Diseases for Encephalomyopathy

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Diseases in the Encephalomyopathy family:

Fatal Infantile Encephalomyopathy

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

(show top 50)    (show all 303)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes33.0MT-ND1, MT-ND4, MT-ND5
2mitochondrial disorders31.8MT-CO3, MT-ND1, MT-ND4, MT-ND5
3mitochondrial encephalomyopathy12.5
4severe x-linked mitochondrial encephalomyopathy12.3
5fatal infantile encephalomyopathy12.2
6fastkd2-related infantile mitochondrial encephalomyopathy12.2
7mitochondrial neurogastrointestinal encephalomyopathy12.2
8melas syndrome12.0
9combined oxidative phosphorylation deficiency 311.6
10combined oxidative phosphorylation deficiency 611.6
11mitochondrial dna depletion syndrome 111.4
12succinate-coa ligase deficiency11.2
13pyruvate dehydrogenase lipoic acid synthetase deficiency10.4
14leukemia10.3
15combined oxidative phosphorylation deficiency 2110.3
16combined oxidative phosphorylation deficiency 1310.3
17combined oxidative phosphorylation deficiency 710.3
18endotheliitis10.3
19prostatitis10.2
20neuronitis10.2
21prostate cancer10.2
22asthma10.2
23breast cancer10.2
24myeloma10.2
25cerebritis10.2
26retinoblastoma10.1
27hepatitis10.1
28goiter10.1
29endemic goiter10.1
30gingivitis10.1
31ischemia10.1
32retinitis10.1
33influenza10.1
34myocardial infarction10.0
35obesity10.0
36sudden infant death syndrome10.0
37chordoma10.0
38multiple myeloma10.0
39burns10.0
40common variable immunodeficiency10.0
41osteoarthritis10.0
42sinusitis10.0
43thalassemia10.0
44sarcoma10.0
45hypertrophic cardiomyopathy10.0
46central retinal artery occlusion10.0
47phaeohyphomycosis10.0
48vaginitis10.0
49cervicitis10.0
50hairy cell leukemia10.0

Graphical network of the top 20 diseases related to Encephalomyopathy:



Diseases related to encephalomyopathy

Symptoms for Encephalomyopathy

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Drugs & Therapeutics for Encephalomyopathy

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Drugs for 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
14Neurotransmitter AgentsPhase 014795
15Anti-Asthmatic AgentsPhase 02796
16Bronchodilator AgentsPhase 02377
17Endothelium-Dependent Relaxing FactorsPhase 0225
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
9Nitric Oxide Production in MELAS SyndromeCompletedNCT01339494Phase 0
10Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Phase 0
11Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
12Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791
13North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
14Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

Search NIH Clinical Center for Encephalomyopathy

Genetic Tests for Encephalomyopathy

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Anatomical Context for Encephalomyopathy

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MalaCards organs/tissues related to Encephalomyopathy:

33
Brain, Breast, Lung, Heart, Liver, Thyroid, Myeloid

Animal Models for Encephalomyopathy or affiliated genes

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Publications for Encephalomyopathy

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Articles related to Encephalomyopathy:

(show top 50)    (show all 388)
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
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease. (24999735)
2014
5
Pak1 kinase links ErbB2 to I^-catenin in transformation of breast epithelial cells. (23576562)
2013
6
Spontaneous and cued gaze-following in autism and Williams syndrome. (23663405)
2013
7
Associated factors and psychotherapy on sleep disturbances in systemic lupus erythematosus. (24080701)
2013
8
Efficacy of omega-3 fatty acids in the treatment of borderline personality disorder: A study of the association with valproic acid. (24196948)
2013
9
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
10
Activated I+2-macroglobulin induces MA1ller glial cell migration by regulating MT1-MMP activity through LRP1. (23640058)
2013
11
Central-provincial relations for anti-schistosomiasis policy in china. (23113188)
2012
12
Human miR-31 targets radixin and inhibits migration and invasion of glioma cells. (22089331)
2012
13
An alternate delivery system improves vaccine performance against foot-and-mouth disease virus (FMDV). (22387223)
2012
14
Endovascular repair of an internal mammary artery aneurysm in a patient with Loeys-Dietz syndrome. (22047832)
2012
15
Hyperthyroidism due to Graves-Basedow disease in a woman refractory to thyroid hormones. (22425314)
2012
16
High-resolution melting analysis for genotyping of the myotonic dystrophy type 1 associated Alu insertion/deletion polymorphism. (19903450)
2010
17
TLR3c.1377, TLR9-1486, and TLR9 2848 gene polymorphisms and multiple sclerosis]. (20197609)
2010
18
NCAM in neuropsychiatric and neurodegenerative disorders. (20017030)
2010
19
Pegfilgrastim vs filgrastim in primary prophylaxis of febrile neutropenia in patients with breast cancer after chemotherapy: a cost-effectiveness analysis for Germany]. (20180162)
2010
20
Association between Fc receptor-like 3 C169T polymorphism and risk of systemic lupus erythematosus: a meta-analysis. (19565352)
2010
21
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
22
The Diagnostic Accuracy of Mammography and Ultrasound in the Evaluation of Male Breast Disease: A New Algorithm. (20877664)
2009
23
A new approach to the treatment of mitral valve prolapse using the MitroFast valvular stenting device. (19218263)
2009
24
A new way to classify genetic skin disease. (19826445)
2009
25
A pathway sensor for genome-wide screens of intracellular proteolytic cleavage. (18387192)
2008
26
Cerebral cortical arteriolar angiopathy, vascular beta-amyloid, smooth muscle actin, Braak stage, and APOE genotype. (18258839)
2008
27
An evaluation of tumor oxygenation and gene expression in patients with early stage non-small cell lung cancers. (16533775)
2006
28
Dentin-pulp complex responses to carious lesions. (16707876)
2006
29
Percutaneous treatment of the superior vena cava syndrome via an excimer laser sheath in a patient with a single chamber atrial pacemaker. (17165133)
2006
30
Report of an atypical case of leishmaniasis presented as acute tonsillitis in an immunocompetent patient. (16308231)
2005
31
Unilateral spatial neglect, global processing deficit and prosopagnosia following right hemisphere stroke: a case report. (16336827)
2005
32
Identification of an aberrantly spliced form of HDMX in human tumors: a new mechanism for HDM2 stabilization. (16266988)
2005
33
Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. (12145747)
2002
34
Is the molecular composition of K(ATP) channels more complex than originally thought? (11448141)
2001
35
Molecular cloning and genomic structure of the betaTRCP2 gene on chromosome 5q35.1. (10694485)
2000
36
Relationships of TP53 codon 72 and HRAS1 polymorphisms with lung cancer risk in an ethnically diverse population. (11097227)
2000
37
Interventions for trichomoniasis in pregnancy. (10796181)
2000
38
A randomized trial of sevelamer hydrochloride (RenaGel) with and without supplemental calcium. Strategies for the control of hyperphosphatemia and hyperparathyroidism in hemodialysis patients. (9988142)
1999
39
Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. (9669814)
1998
40
Population genetic characteristics of highland and meadow Mari. Genetic markers]. (8754068)
1996
41
Methemoglobinemia from topically applied anesthetic spray. (8065193)
1994
42
An alternatively spliced transcript, p65 delta 2, of the gene encoding the p65 subunit of the transcription factor NF-kappa B. (7907305)
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
Transforming growth factors beta 1 and beta 2 are differentially expressed in fibrotic liver disease. (1750499)
1991
45
Effect of conjugated estrogens on platelet function and prostacyclin generation in CRF. (1963650)
1990
46
Surgical treatment of medullary carcinoma of the thyroid. (1973281)
1990
47
Immunodiagnosis of rhodesiense sleeping sickness: detection of circulating trypanosomal antigens in sera and cerebrospinal fluid by enzyme immunoassay using a monoclonal antibody. (3058357)
1988
48
Human histocompatibility antigen associations in subacute cutaneous lupus erythematosus. (7451656)
1981
49
Cerebral nocardiosis in renal transplant patients. (7028203)
1981
50
Hematological effects of lathyrism. (13537885)
1958

Variations for Encephalomyopathy

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Expression for genes affiliated with Encephalomyopathy

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Search GEO for disease gene expression data for Encephalomyopathy.

Pathways for genes affiliated with Encephalomyopathy

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GO Terms for genes affiliated with Encephalomyopathy

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

idNameGO IDScoreTop Affiliating Genes
1hydrogen ion transmembrane transportGO:19026009.7COX6B1, MT-CO3
2ATP synthesis coupled electron transportGO:00427739.7MT-ND4, MT-ND5
3mitochondrial electron transport, NADH to ubiquinoneGO:00061209.6MT-ND4, MT-ND5
4oxidation-reduction processGO:00551148.4AIFM1, MT-ND1, MT-ND4, MT-ND5

Sources for 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