Aliases & Classifications for Encephalomyopathy

MalaCards integrated aliases for Encephalomyopathy:

Name: Encephalomyopathy 49
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 49
Mitochondrial Encephalomyopathy Aminoacidopathy 49

Classifications:



Summaries for Encephalomyopathy

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1933Disease definitionThis syndrome is characterised by the association of a mitochondrial encephalomyopathy and an aminoacidopathy. It has been described in two brothers presenting with developmental delay, neurological signs, deafness, exercise intolerance, lactic acidosis and elevation of several plasmatic amino acids. Mitochondria morphology was found to be abnormal on muscle biopsy. Transmission is likely to be linked to maternal mitochondrial DNA.Visit the Orphanet disease page for more resources. Last updated: 7/3/2006

MalaCards based summary : Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to mitochondrial encephalomyopathy and mitochondrial myopathy. An important gene associated with Encephalomyopathy is AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1), 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 : 72 Encephalopathy (/ɛnˌsɛfəˈlɒpəθi/; from Ancient Greek: ἐγκέφαλος \"brain\" + πάθος \"suffering\") means... 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 122)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy 31.4 AIFM1 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 mitochondrial myopathy 31.2 MT-CO3 MT-ND4 MT-ND5
3 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.8 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYMP
4 mitochondrial disorders 30.5 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYMP
5 mitochondrial complex iv deficiency 29.5 COX6B1 MT-CO3
6 myoclonic epilepsy associated with ragged-red fibers 29.3 MT-ND4 MT-ND5
7 kearns-sayre syndrome 29.2 MT-ND4 MT-ND5 MT-ND6 TYMP
8 lactic acidosis 29.0 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
9 mitochondrial metabolism disease 28.6 MT-ND1 MT-ND4 MT-ND5 MT-ND6
10 mitochondrial complex i deficiency 28.3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
11 neuropathy 27.7 AIFM1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
12 mitochondrial neurogastrointestinal encephalomyopathy 12.1
13 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 11.9
14 fatal infantile encephalomyopathy 11.8
15 fastkd2-related infantile mitochondrial encephalomyopathy 11.8
16 combined oxidative phosphorylation deficiency 6 11.8
17 combined oxidative phosphorylation deficiency 3 11.5
18 mitochondrial dna depletion syndrome 1 11.0
19 coenzyme q10 deficiency, primary, 7 11.0
20 mitochondrial dna depletion syndrome 5 10.8
21 combined oxidative phosphorylation deficiency 7 10.8
22 hyperglycinemia, lactic acidosis, and seizures 10.8
23 combined oxidative phosphorylation deficiency 13 10.8
24 combined oxidative phosphorylation deficiency 21 10.8
25 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 10.8
26 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.8
27 congenital intrauterine infection-like syndrome 10.8
28 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy 10.8
29 cerebral atrophy 10.8
30 cerebritis 10.1
31 parkinson disease 6, autosomal recessive early-onset 10.1 MT-ND5 MT-ND6
32 3-methylglutaconic aciduria, type v 10.0 MT-ND4 TYMP
33 epilepsy 10.0
34 cortical blindness 10.0 MT-ND4 MT-ND6
35 ataxia and polyneuropathy, adult-onset 9.9
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
37 diabetes mellitus 9.9
38 hypertrophic cardiomyopathy 9.9
39 myopathy 9.9
40 peripheral nervous system disease 9.9 MT-ND4 MT-ND6
41 myoclonus 9.9
42 3-methylglutaconic aciduria, type iii 9.8 MT-ND4 MT-ND6
43 myoclonus and ataxia 9.8
44 retinoblastoma 9.8
45 aging 9.8
46 branchiootic syndrome 1 9.8
47 bulimia nervosa 2 9.8
48 hydrocephalus 9.8
49 coenzyme q10 deficiency disease 9.8
50 sleep apnea 9.8

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 40)
# 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, Investigational Phase 2 52-24-4 5453
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11 Tocopherol Approved, Investigational, Nutraceutical Phase 2
12
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
13 Ubiquinone Phase 2
14 Micronutrients Phase 2
15 Trace Elements Phase 2
16 Protective Agents Phase 2,Early Phase 1
17 Antioxidants Phase 2,Early Phase 1
18 Alkylating Agents Phase 2
19 N-monoacetylcystine Phase 2
20 Thioctic Acid Phase 2
21 Tocopherols Phase 2
22 Tocotrienols Phase 2
23 Vitamins Phase 2
24 Antilymphocyte Serum Phase 2
25 Immunosuppressive Agents Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 arginine Nutraceutical Phase 2,Early Phase 1
29 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
30 Alpha-lipoic Acid Nutraceutical Phase 2
31
Nitric Oxide Approved Early Phase 1 10102-43-9 145068
32 Respiratory System Agents Early Phase 1
33 Neurotransmitter Agents Early Phase 1
34 Vasodilator Agents Early Phase 1
35 Peripheral Nervous System Agents Early Phase 1
36 Anti-Asthmatic Agents Early Phase 1
37 Endothelium-Dependent Relaxing Factors Early Phase 1
38 Autonomic Agents Early Phase 1
39 Bronchodilator Agents Early Phase 1
40 pyruvate Nutraceutical

Interventional clinical trials:

(show all 18)

# Name Status NCT ID Phase Drugs
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 Dichloroacetate
3 The KHENERGY Study Completed NCT02909400 Phase 2 KH176;placebo
4 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate
5 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
6 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
7 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
8 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
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 Recruiting NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
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 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
18 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:

38
Brain, Skeletal Muscle, Liver, Cortex, Heart, Skin, Eye

Publications for Encephalomyopathy

Articles related to Encephalomyopathy:

(show top 50) (show all 435)
# Title Authors Year
1
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018
2
Conventional and Diffusional Magnetic Resonance Imaging Features of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes in Chinese Patients: A Study of 40 Cases. ( 29369945 )
2018
3
Survival analysis of a cohort of Chinese patients with mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) based on clinical features. ( 29406897 )
2018
4
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. ( 29327420 )
2018
5
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. ( 29044765 )
2018
6
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. ( 29217198 )
2018
7
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance. ( 28904474 )
2017
8
Correction for Li and Guan, "Human Mitochondrial Leucyl-tRNA Synthetase Corrects Mitochondrial Dysfunctions Due to the tRNA(Leu(UUR)) A3243G Mutation, Associated with Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Symptoms and Diabetes". ( 28847973 )
2017
9
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
10
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. ( 29217043 )
2017
11
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review. ( 28411356 )
2017
12
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. ( 28412374 )
2017
13
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. ( 28427446 )
2017
14
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
15
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction. ( 28811861 )
2017
16
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. ( 28299359 )
2017
17
Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report. ( 29200367 )
2017
18
Assessment of Nitric Oxide Production in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Syndrome with the Use of a Stable Isotope Tracer Infusion Technique. ( 28515163 )
2017
19
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
20
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. ( 28539227 )
2017
21
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy. ( 28695670 )
2017
22
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy. ( 28263873 )
2017
23
Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation. ( 28765176 )
2017
24
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. ( 28261062 )
2017
25
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. ( 28155230 )
2017
26
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
27
Mitochondrial Neurogastrointestinal Encephalomyopathy in the Differential Diagnosis of Eating Disorders. ( 28935389 )
2017
28
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. ( 28804536 )
2017
29
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report. ( 28228835 )
2017
30
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology. ( 28116243 )
2017
31
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed. ( 28124854 )
2016
32
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
33
A celiac case mimicking mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). ( 29090882 )
2016
34
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
35
Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa. ( 27743770 )
2016
36
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
37
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 27421916 )
2016
38
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. ( 27007276 )
2016
39
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
40
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
41
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
42
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
43
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
44
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
45
Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis. ( 27044617 )
2016
46
Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 27004974 )
2016
47
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
48
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 26264513 )
2015
49
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
50
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015

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:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.7 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 respiratory chain complex I GO:0005747 9.43 MT-ND1 MT-ND4 MT-ND5
4 mitochondrial intermembrane space GO:0005758 9.37 AIFM1 COX6B1
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.35 AIFM1 MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 cytochrome-c oxidase activity GO:0004129 9.16 COX6B1 MT-CO3
3 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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