Aliases & Classifications for Encephalomyopathy

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Aliases & Descriptions for Encephalomyopathy:

Name: Encephalomyopathy 46
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 46
 
Mitochondrial Encephalomyopathy Aminoacidopathy 46

Classifications:



Summaries for Encephalomyopathy

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Wikipedia:69 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 complex iv deficiency and mitochondrial complex i deficiency. 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, skeletal muscle and liver.

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 97)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial complex iv deficiency29.2COX6B1, MT-CO3
2mitochondrial complex i deficiency28.8MT-ND5, MT-ND6, NDUFS4
3myoclonic epilepsy associated with ragged-red fibers28.7MT-CO3, MT-ND5, MT-ND6, TYMP
4mitochondrial encephalomyopathy12.3
5mitochondrial neurogastrointestinal encephalomyopathy12.1
6fatal infantile encephalomyopathy11.9
7fastkd2-related infantile mitochondrial encephalomyopathy11.9
8mitochondrial disorders11.7
9mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes11.6
10combined oxidative phosphorylation deficiency 611.5
11combined oxidative phosphorylation deficiency 311.2
12coenzyme q10 deficiency, primary, 711.0
13mitochondrial dna depletion syndrome 111.0
14mitochondrial dna depletion syndrome 510.9
15lactic acidosis10.6
16cardiomyopathy10.2
17cerebritis10.1
18parkinson disease 6, early onset10.1MT-ND5, MT-ND6
19clubfoot10.1MT-ND5, MT-ND6
20pyruvate dehydrogenase lipoic acid synthetase deficiency10.0
21kearns-sayre syndrome10.0
22epilepsy10.0
23hypertrophic cardiomyopathy10.0
24myopathy10.0
25lymphoepithelioma-like carcinoma9.9MT-ND5, MT-ND6
26myoclonus9.9
27combined oxidative phosphorylation deficiency 219.9
28combined oxidative phosphorylation deficiency 139.9
29combined oxidative phosphorylation deficiency 79.9
30hydrocephalus9.8
31sleep apnea9.8
32hypoparathyroidism9.8
33choroiditis9.8
34hypogonadism9.8
35pancreatitis9.8
36peritonitis9.8
37muscular dystrophy9.8
38aminoacidopathies9.8
39ataxia9.8
40mental retardation with spastic paraplegia9.8MT-ND5, MT-ND6, TYMP
41ulceration of vulva9.8MT-ND5, TYMP
42mitochondrial membrane protein-associated neurodegeneration9.7MT-CO3, MT-ND5, MT-ND6
43childhood cerebral astrocytoma9.7MT-ND5, MT-ND6, NDUFS4
44wheat allergy9.7MT-CO3, MT-ND5, MT-ND6
45fumarase deficiency9.7
46cystic fibrosis9.7
47anorexia nervosa9.7
48mitochondrial complex ii deficiency9.7
49retinoblastoma9.7
50trigeminal neuralgia9.7

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 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
β-MEA
β-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
10Nitric Oxide Production in MELAS SyndromeCompletedNCT01339494Phase 0
11Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Phase 0
12Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
13Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791
14North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
15Mitochondrial 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:

34
Brain, Skeletal muscle, Liver, Cortex, Heart, Skin, Eye

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 398)
idTitleAuthorsYear
1
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. (26954033)
2016
2
Never too old for a change. ECG in a nonagenarian with apical hypertrophic cardiomyopathy, aneurysm, and encephalomyopathy. (25747108)
2015
3
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. (25934856)
2015
4
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. (25022940)
2014
5
Mitochondrial encephalomyopathy: towards diagnosis. A case report. (24636775)
2014
6
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
7
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (21933806)
2011
8
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (21483760)
2011
9
Carotid dissection in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (21076841)
2011
10
A8344G mutation of the mitochondrial DNA with typical mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome. (22611618)
2011
11
Multiple cranial nerve enhancement in mitochondrial neurogastrointestinal encephalomyopathy. (20351514)
2010
12
Absence of the interstitial cell of Cajal network in mitochondrial neurogastrointestinal encephalomyopathy. (19368660)
2009
13
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. (19616983)
2009
14
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (17301081)
2007
15
Apical hypertrophic cardiomyopathy in encephalomyopathy. (18163025)
2007
16
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. (16774911)
2006
17
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17077575)
2006
18
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
19
Clinicopathological aspects of the neuropathy of neurogastrointestinal encephalomyopathy (MNGIE) in four patients including two with a Charcot-Marie-Tooth presentation. (15742109)
2005
20
Comparison of conventional and diffusion-weighted MRI and proton MR spectroscopy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like events. (14673554)
2004
21
ND5 is a hot-spot for multiple atypical mitochondrial DNA deletions in mitochondrial neurogastrointestinal encephalomyopathy. (14613972)
2004
22
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
23
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
24
Ultrastructural study of mother and daughter muscle changes with mitochondrial encephalomyopathy. (11928899)
2001
25
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. (10852545)
2000
26
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
27
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
28
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
29
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
30
Treatment of mitochondrial encephalomyopathy with a combination of cytochrome C and vitamins B1 and B2. (9187476)
1997
31
Accumulation of somatic nucleotide substitutions in mitochondrial DNA associated with the 3243 A-to-G tRNA(leu)(UUR) mutation in encephalomyopathy and cardiomyopathy. (8670183)
1996
32
Cytochrome c oxidase deficiency in fibroblasts of a patient with mitochondrial encephalomyopathy. (8918062)
1996
33
Relationship of genotype to phenotype in fibroblast-derived transmitochondrial cell lines carrying the 3243 mutation associated with the MELAS encephalomyopathy: shift towards mutant genotype and role of mtDNA copy number. (8824875)
1996
34
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
35
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
36
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
1995
37
Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy. (8530975)
1995
38
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
39
Free radical, lipid peroxide and antioxidant in mitochondrial encephalomyopathy]. (7955720)
1994
40
Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy. (8064325)
1994
41
Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy. (1487239)
1992
42
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
43
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
44
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
45
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
46
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
47
An unusual aminoacidopathy associated with mitochondrial encephalomyopathy. (2501579)
1989
48
Diagnosis and follow-up of mitochondrial encephalomyopathy: CT and MR studies. (3392284)
1988
49
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986
50
HEREDITARY ENCEPHALOMYOPATHY. A HYDROCEPHALUS SYNDROME IN NEWBORN CALVES. (14140876)
1964

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex IGO:000574710.3MT-ND5, NDUFS4
2mitochondrial intermembrane spaceGO:00057589.9AIFM1, COX6B1
3mitochondrionGO:00057397.8AIFM1, C12orf65, COX6B1, MT-CO3, NDUFS4
4mitochondrial inner membraneGO:00057437.6AIFM1, COX6B1, MT-CO3, MT-ND5, MT-ND6, NDUFS4

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial respiratory chain complex I assemblyGO:00329819.6MT-ND5, MT-ND6, NDUFS4
2hydrogen ion transmembrane transportGO:19026009.4COX6B1, MT-CO3
3response to hydrogen peroxideGO:00425429.3MT-ND5, MT-ND6
4mitochondrial electron transport, cytochrome c to oxygenGO:00061239.3COX6B1, MT-CO3
5mitochondrial electron transport, NADH to ubiquinoneGO:00061209.1MT-ND5, MT-ND6, NDUFS4

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

idNameGO IDScoreTop Affiliating Genes
1NADH dehydrogenase (ubiquinone) activityGO:00081379.1MT-ND5, MT-ND6, NDUFS4

Sources for 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