MCID: ENC011
MIFTS: 37

Encephalomyopathy malady

Categories: Rare diseases

Aliases & Classifications for Encephalomyopathy

Aliases & Descriptions for Encephalomyopathy:

Name: Encephalomyopathy 50
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 50
Mitochondrial Encephalomyopathy Aminoacidopathy 50

Classifications:



Summaries for Encephalomyopathy

MalaCards based summary : Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to myoclonic epilepsy associated with ragged-red fibers and mitochondrial encephalomyopathy. An important gene associated with Encephalomyopathy is TYMP (Thymidine Phosphorylase), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. The drugs Vaccines and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and liver.

Wikipedia : 71 Encephalopathy /ɛnˌsɛfəˈlɒpəθi/ means disorder or disease of the brain. In modern usage,... more...

Related Diseases for Encephalomyopathy

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 101)
id Related Disease Score Top Affiliating Genes
1 myoclonic epilepsy associated with ragged-red fibers 28.1 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYMP
2 mitochondrial encephalomyopathy 12.3
3 mitochondrial neurogastrointestinal encephalomyopathy 11.9
4 fatal infantile encephalomyopathy 11.7
5 fastkd2-related infantile mitochondrial encephalomyopathy 11.7
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 11.7
7 mitochondrial disorders 11.7
8 combined oxidative phosphorylation deficiency 6 11.5
9 combined oxidative phosphorylation deficiency 3 11.3
10 pyruvate dehydrogenase lipoic acid synthetase deficiency 10.9
11 coenzyme q10 deficiency, primary, 7 10.9
12 mitochondrial dna depletion syndrome 1 10.9
13 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.7
14 combined oxidative phosphorylation deficiency 21 10.7
15 combined oxidative phosphorylation deficiency 13 10.7
16 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form, with renal tubulopathy 10.7
17 combined oxidative phosphorylation deficiency 7 10.7
18 mitochondrial dna depletion syndrome 5 10.7
19 lactic acidosis 10.5
20 cardiomyopathy 10.1
21 growth hormone deficiency, isolated partial 10.0 MT-ND4 TYMP
22 parkinson disease 6, early onset 10.0 MT-ND5 MT-ND6
23 multiple epiphyseal dysplasia with robin phenotype 10.0 MT-ND4 MT-ND5
24 cerebritis 10.0
25 familial cold-induced inflammatory syndrome 1 10.0 COX6B1 MT-CO3
26 epilepsy 9.9
27 kearns-sayre syndrome 9.9
28 penis sarcoma 9.9 MT-CO3 MT-ND1
29 uterine ligament serous adenocarcinoma 9.9 MT-ND4 MT-ND6
30 myopathy 9.8
31 mucinous intrahepatic cholangiocarcinoma 9.8 MT-ND4 MT-ND5 MT-ND6
32 spinocerebellar ataxia, autosomal recessive 15 9.8 MT-ND4 MT-ND6
33 myoclonus 9.8
34 mental retardation with spastic paraplegia 9.7 MT-ND4 MT-ND5 MT-ND6 TYMP
35 lentigo maligna melanoma 9.7 MT-ND1 MT-ND4 MT-ND6
36 hypoparathyroidism 9.7
37 pancreatitis 9.7
38 aminoacidopathies 9.7
39 choroiditis 9.7
40 peritonitis 9.7
41 hydrocephalus 9.7
42 hypogonadism 9.7
43 anorexia nervosa 9.7
44 sleep apnea 9.7
45 ataxia 9.7
46 muscular dystrophy 9.7
47 nerve fibre bundle defect 9.5 MT-ND1 MT-ND4 MT-ND5 MT-ND6
48 open-angle glaucoma 9.5
49 polyradiculoneuropathy 9.5
50 mitochondrial complex i deficiency 9.5

Graphical network of the top 20 diseases related to Encephalomyopathy:



Diseases related to Encephalomyopathy

Symptoms & Phenotypes for Encephalomyopathy

Drugs & Therapeutics for Encephalomyopathy

Drugs for Encephalomyopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 41)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
3 Idebenone Approved, Investigational Phase 2 58186-27-9
4
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
5
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
6
Busulfan Approved, Investigational Phase 2 55-98-1 2478
7
rituximab Approved Phase 2 174722-31-7 10201696
8
alemtuzumab Approved, Investigational Phase 2 216503-57-0
9
Thiotepa Approved Phase 2 52-24-4 5453
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
12 Ubiquinone Phase 2
13 Trace Elements Phase 2
14 Protective Agents Phase 2,Early Phase 1
15 Micronutrients Phase 2
16 Antioxidants Phase 2,Early Phase 1
17 Alkylating Agents Phase 2
18 N-monoacetylcystine Phase 2
19 Thioctic Acid Phase 2
20 Tocopherols Phase 2
21 Tocotrienols Phase 2
22 Vitamins Phase 2
23 Immunosuppressive Agents Phase 2
24 Antilymphocyte Serum Phase 2
25 Antimetabolites Phase 2
26 Antimetabolites, Antineoplastic Phase 2
27 Antineoplastic Agents, Alkylating Phase 2
28 arginine Nutraceutical Phase 2,Early Phase 1
29 Tocopherol Nutraceutical Phase 2
30 Tocotrienol Nutraceutical Phase 2
31 Alpha-lipoic Acid Nutraceutical Phase 2
32
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
33
Pyruvate Approved, Nutraceutical
34 Neurotransmitter Agents Early Phase 1
35 Peripheral Nervous System Agents Early Phase 1
36 Vasodilator Agents Early Phase 1
37 Endothelium-Dependent Relaxing Factors Early Phase 1
38 Anti-Asthmatic Agents Early Phase 1
39 Respiratory System Agents Early Phase 1
40 Autonomic Agents Early Phase 1
41 Bronchodilator Agents Early Phase 1

Interventional clinical trials:

(show all 17)
id Name Status NCT ID Phase
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2
3 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
4 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2
5 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2
6 The KHENERGY Study Recruiting NCT02909400 Phase 2
7 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2
8 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1
9 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
10 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers Not yet recruiting NCT03056209 Phase 1
11 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
12 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
13 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
14 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
15 Natural History Study - Mitochondrial Disease Recruiting NCT01532791
16 The Leigh Syndrome Registry Recruiting NCT03137355
17 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940

Search NIH Clinical Center for Encephalomyopathy

Genetic Tests for Encephalomyopathy

Anatomical Context for Encephalomyopathy

MalaCards organs/tissues related to Encephalomyopathy:

39
Brain, Skeletal Muscle, Liver, Heart, Cortex, Skin, Eye

Publications for Encephalomyopathy

Articles related to Encephalomyopathy:

(show top 50) (show all 404)
id Title Authors Year
1
Prediction of long-term prognosis by heteroplasmy levels of the m.3243A>G mutation in patients with the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome. ( 27869334 )
2017
2
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
3
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 27421916 )
2016
4
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. ( 27007276 )
2016
5
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 27004974 )
2016
6
Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings. ( 27920873 )
2016
7
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
8
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
9
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
10
Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis. ( 27044617 )
2016
11
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
12
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
13
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
14
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
15
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
16
Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa. ( 27743770 )
2016
17
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015
18
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. ( 26261593 )
2015
19
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. ( 26421988 )
2015
20
MicroRNA expression profile of a Malaysian Bajau family with familial mitochondrial neurogastrointestinal encephalomyopathy. ( 26535630 )
2015
21
Never too old for a change. ECG in a nonagenarian with apical hypertrophic cardiomyopathy, aneurysm, and encephalomyopathy. ( 25747108 )
2015
22
Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature. ( 25585305 )
2015
23
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. ( 26185144 )
2015
24
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. ( 25736212 )
2015
25
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. ( 25993630 )
2015
26
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 26264513 )
2015
27
Spontaneous abdominal esophageal perforation in a patient with mitochondrial neurogastrointestinal encephalomyopathy. ( 25649531 )
2015
28
Eye movement changes in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 25656101 )
2015
29
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
30
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
31
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. ( 25934856 )
2015
32
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. ( 26094573 )
2015
33
Mitochondrial Neuro-Gastrointestinal Encephalomyopathy Presenting with Recurrent Bowel Perforations and Intra-abdominal Abscesses. ( 25022257 )
2014
34
Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm. ( 24726585 )
2014
35
Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. ( 24802030 )
2014
36
Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients. ( 24708131 )
2014
37
Correction: liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy. ( 25285923 )
2014
38
Mitochondrial neurogastrointestinal encephalomyopathy treated with peritoneal dialysis and bone marrow transplantation. ( 24599829 )
2014
39
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. ( 24828681 )
2014
40
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
41
Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy. ( 24781756 )
2014
42
Mitochondrial encephalomyopathy: towards diagnosis. A case report. ( 24636775 )
2014
43
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. ( 25038129 )
2014
44
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. ( 24827421 )
2014
45
Endocarditis in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Syndrome: The First in the Literature. ( 25478431 )
2014
46
Thymidine phosphorylase is both a therapeutic and a suicide gene in a murine model of mitochondrial neurogastrointestinal encephalomyopathy. ( 24807807 )
2014
47
High cytochrome c oxidase expression links to severe skeletal energy failure by (31)P-MRS spectroscopy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. ( 24674659 )
2014
48
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype in a patient with a novel heterozygous POLG mutation. ( 25022940 )
2014
49
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. ( 24655600 )
2014
50
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 24986829 )
2014

Variations for Encephalomyopathy

Expression for Encephalomyopathy

Search GEO for disease gene expression data for Encephalomyopathy.

Pathways for Encephalomyopathy

GO Terms for Encephalomyopathy

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.73 AIFM1 COX6B1 MT-CO3 MT-ND1 MT-ND4 MT-ND5
2 mitochondrial membrane GO:0031966 9.5 MT-ND1 MT-ND4 MT-ND6
3 mitochondrial intermembrane space GO:0005758 9.37 AIFM1 COX6B1
4 mitochondrial respiratory chain complex I GO:0005747 9.33 MT-ND1 MT-ND4 MT-ND5
5 respiratory chain GO:0070469 9.26 MT-ND1 MT-ND4 MT-ND5 MT-ND6
6 mitochondrial inner membrane GO:0005743 9.17 AIFM1 COX6B1 MT-CO3 MT-ND1 MT-ND4 MT-ND5

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

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.55 AIFM1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 hydrogen ion transmembrane transport GO:1902600 9.43 COX6B1 MT-CO3
3 response to hydrogen peroxide GO:0042542 9.4 MT-ND5 MT-ND6
4 response to nicotine GO:0035094 9.37 MT-ND4 MT-ND6
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.32 COX6B1 MT-CO3
6 ATP synthesis coupled electron transport GO:0042773 9.26 MT-ND4 MT-ND5
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND1 MT-ND4 MT-ND5 MT-ND6
8 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND1 MT-ND4 MT-ND5 MT-ND6

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 AIFM1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND1 MT-ND4 MT-ND5 MT-ND6

Sources for Encephalomyopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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