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 disorders and mitochondrial complex iv deficiency. An important gene associated with Encephalomyopathy is AIFM1 (Apoptosis-Inducing Factor, Mitochondrion-Associated, 1), and among its related pathways are Cardiac muscle contraction and Alzheimers disease. Affiliated tissues include brain, bone and skeletal muscle.

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 100)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial disorders30.4MT-CO3, MT-ND5, MT-ND6
2mitochondrial complex iv deficiency29.7COX6B1, MT-CO3
3mitochondrial complex i deficiency29.6MT-ND5, MT-ND6, NDUFS4
4mitochondrial encephalomyopathy11.1
5mitochondrial neurogastrointestinal encephalomyopathy10.9
6lactic acidosis10.8
7mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.7
8melas syndrome10.5
9cardiomyopathy10.5
10cerebritis10.4
11severe x-linked mitochondrial encephalomyopathy10.3
12kearns-sayre syndrome10.3
13hypertrophic cardiomyopathy10.2
14myopathy10.2
15fatal infantile encephalomyopathy10.2
16ophthalmoplegia10.2
17myoclonus10.2
18fastkd2-related infantile mitochondrial encephalomyopathy10.2
19pyruvate dehydrogenase lipoic acid synthetase deficiency10.1
20combined oxidative phosphorylation deficiency 310.1
21mitochondrial dna depletion syndrome 110.1
22combined oxidative phosphorylation deficiency 610.1
23hydrocephalus10.1
24hypoparathyroidism10.1
25choroiditis10.1
26hypogonadism10.1
27muscular dystrophy10.1
28pancreatitis10.1
29sleep apnea10.1
30aminoacidopathies10.1
31ataxia10.1
32ramsay hunt syndrome10.1
33parkinson disease 6, early onset10.1MT-ND5, MT-ND6
34matsoukas liarikos giannika syndrome10.0MT-ND5, MT-ND6
35congenital factor v deficiency10.0MT-ND5, MT-ND6
36combined oxidative phosphorylation deficiency 219.9
37fumarase deficiency9.9
38combined oxidative phosphorylation deficiency 139.9
39cystic fibrosis9.9
40anorexia nervosa9.9
41mitochondrial complex ii deficiency9.9
42combined oxidative phosphorylation deficiency 79.9
43retinoblastoma9.9
44cataract9.9
45cerebral hemorrhage9.9
46focal segmental glomerulosclerosis9.9
47pearson syndrome9.9
48trigeminal neuralgia9.9
49superior mesenteric artery syndrome9.9
50fanconi syndrome9.9

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 44069
2Insulin, Globin ZincPhase 44069
3
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
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
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
nchembio.315-comp1
nchembio.316-comp1
β-MEA
β-aminoethylthiol
4idebenonePhase 217
5arginineNutraceuticalPhase 2346
6
Nitric Oxideapproved54010102-43-9145068
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
7pyruvateNutraceutical27

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
11Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791
12North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
13Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
14Nitric Oxide Production in MELAS SyndromeRecruitingNCT01339494

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, Bone, Skeletal muscle, Liver, Heart, Cortex, 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 387)
idTitleAuthorsYear
1
Never too old for a change. ECG in a nonagenarian with apical hypertrophic cardiomyopathy, aneurysm, and encephalomyopathy. (25747108)
2015
2
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. (25934856)
2015
3
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. (25022940)
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
The role of brain MRI in mitochondrial neurogastrointestinal encephalomyopathy. (24199812)
2013
8
Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy. (21933806)
2011
9
Limited dCTP availability accounts for mitochondrial DNA depletion in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (21483760)
2011
10
Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor. (20362274)
2010
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
Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy. (19589463)
2009
14
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. (17301081)
2007
15
Cognitive dysfunction and hypogonadotrophic hypogonadism in a Brazilian patient with mitochondrial neurogastrointestinal encephalomyopathy and a novel ECGF1 mutation. (17437622)
2007
16
Thymidine phosphorylase gene mutation is not a primary cause of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (16679698)
2006
17
Mitochondrial DNA depletion and thymidine phosphate pool dynamics in a cellular model of mitochondrial neurogastrointestinal encephalomyopathy. (16774911)
2006
18
Thymidine phosphorylase gene mutations cause mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). (17077575)
2006
19
Evolution of brain imaging abnormalities in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. (17204916)
2006
20
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. (12825077)
2003
21
Anaesthesia for an adolescent with mitochondrial encephalomyopathy-lactic acidosis-stroke-like episodes syndrome. (12791122)
2003
22
Diffuse magnetic resonance imaging white-matter changes in a 15-year-old boy with mitochondrial encephalomyopathy. (11913571)
2002
23
An autopsy case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome with chronic renal failure. (11506313)
2001
24
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene. (11047755)
2000
25
Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. (10852545)
2000
26
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
27
Mitochondrial encephalomyopathy showing prominent microvacuolation and necrosis of intestinal smooth muscle cells: a case diagnosed by rectal biopsy. (9678517)
1998
28
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
29
Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid. (9435428)
1998
30
Mitochondrial encephalomyopathy with 15915 mutation: clinical report. (9367299)
1997
31
Benign mitochondrial encephalomyopathy in a patient with complex I deficiency. (8739952)
1996
32
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
33
Early-onset fatal encephalomyopathy associated with severe mtDNA depletion. (7556323)
1995
34
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. (7565923)
1995
35
Home mechanical ventilation in mitochondrial encephalomyopathy syndrome. (7487448)
1995
36
Mitochondrial encephalomyopathy with A to G transition of mitochondrial transfer RNA(Leu(UUR)) 3,243 presenting hypertrophic cardiomyopathy. (7496082)
1995
37
Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases. (7783765)
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
An autopsy case of mitochondrial encephalomyopathy (MELAS) with special reference to extra-neuromuscular abnormalities. (1471529)
1992
41
Purpuric cutaneous manifestations in mitochondrial encephalomyopathy. (1939857)
1991
42
An autopsy case of mitochondrial encephalomyopathy with prominent degeneration in olivo-ponto-cerebellar system. (1792871)
1991
43
HMPAO-SPECT imaging resembling Alzheimer-type dementia in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS). (2213201)
1990
44
Mitochondrial encephalomyopathy with pilovacuolar inclusion or phenocopy with mitochondrial artefact? (2795106)
1989
45
Non-epileptic myoclonus and mitochondrial encephalomyopathy. (2619613)
1989
46
Hypokinesia and rigidity as clinical manifestations of mitochondrial encephalomyopathy: report of three cases. (2537772)
1989
47
Increased accumulation of N-isopropyl-p-(123I)-iodoamphetamine in two cases with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS). (2636890)
1989
48
Corneal endothelium in a case of mitochondrial encephalomyopathy (Kearns-Sayre syndrome). (2743782)
1989
49
Fumarase deficiency: a new cause of mitochondrial encephalomyopathy. (3736629)
1986
50
Mitochondrial encephalomyopathy: fluctuating symptoms and CT. (6493493)
1984

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:000574710.1MT-ND5, NDUFS4
2mitochondrial intermembrane spaceGO:00057589.3AIFM1, COX6B1
3mitochondrial inner membraneGO:00057437.5AIFM1, COX6B1, MT-CO3, MT-ND5, MT-ND6, NDUFS4
4mitochondrionGO:00057397.3AIFM1, C12orf65, COX6B1, MT-CO3, MT-ND6, NDUFS4

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1mitochondrial electron transport, NADH to ubiquinoneGO:000612010.1MT-ND5, NDUFS4
2response to hydrogen peroxideGO:004254210.1MT-ND5, MT-ND6
3mitochondrial respiratory chain complex I assemblyGO:003298110.0AIFM1, NDUFS4
4hydrogen ion transmembrane transportGO:19026009.6COX6B1, MT-CO3
5respiratory electron transport chainGO:00229048.1COX6B1, MT-CO3, MT-ND5, MT-ND6, NDUFS4
6cellular metabolic processGO:00442378.1COX6B1, MT-CO3, MT-ND5, MT-ND6, NDUFS4
7small molecule metabolic processGO:00442817.3COX6B1, MT-CO3, MT-ND5, MT-ND6, NDUFS4, TYMP

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on NAD(P)HGO:00166519.8AIFM1, NDUFS4
2NADH dehydrogenase (ubiquinone) activityGO:00081379.2MT-ND5, MT-ND6, NDUFS4
3cytochrome-c oxidase activityGO:00041299.2COX6B1, MT-CO3

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