Aliases & Classifications for Encephalomyopathy

MalaCards integrated aliases for Encephalomyopathy:

Name: Encephalomyopathy 53
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria, Autosomal Recessive 53
Mitochondrial Encephalomyopathy Aminoacidopathy 53

Classifications:



Summaries for Encephalomyopathy

NIH Rare Diseases : 53 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.

MalaCards based summary : Encephalomyopathy, also known as mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria, autosomal recessive, is related to mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes and mitochondrial encephalomyopathy. 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, liver and skeletal muscle.

Wikipedia : 76 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 128)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.8 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYMP
2 mitochondrial encephalomyopathy 30.5 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
3 mitochondrial disorders 30.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYMP
4 mitochondrial metabolism disease 30.0 MT-ND5 MT-ND6
5 mitochondrial myopathy 29.2 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
6 myoclonic epilepsy associated with ragged-red fibers 29.2 MT-ND4 MT-ND5
7 3-methylglutaconic aciduria, type iii 29.1 C12orf65 MT-ND4 MT-ND6
8 lactic acidosis 28.3 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
9 mitochondrial complex i deficiency 27.9 MT-ND1 MT-ND4 MT-ND5 MT-ND6
10 neuropathy 27.7 AIFM1 MT-ND1 MT-ND4 MT-ND6
11 myopathy 27.2 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
12 kearns-sayre syndrome 26.9 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6 TYMP
13 mitochondrial neurogastrointestinal encephalomyopathy 12.1
14 encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency 11.9
15 fatal infantile encephalomyopathy 11.8
16 fastkd2-related infantile mitochondrial encephalomyopathy 11.8
17 combined oxidative phosphorylation deficiency 6 11.8
18 combined oxidative phosphorylation deficiency 3 11.5
19 mitochondrial dna depletion syndrome 1 11.0
20 coenzyme q10 deficiency, primary, 7 11.0
21 mitochondrial dna depletion syndrome 5 10.8
22 combined oxidative phosphorylation deficiency 7 10.8
23 hyperglycinemia, lactic acidosis, and seizures 10.8
24 combined oxidative phosphorylation deficiency 13 10.8
25 combined oxidative phosphorylation deficiency 21 10.8
26 neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures 10.8
27 fbxl4-related encephalomyopathic mitochondrial dna depletion syndrome 10.8
28 congenital intrauterine infection-like syndrome 10.8
29 rrm2b-related mitochondrial dna depletion syndrome, encephalomyopathic form with renal tubulopathy 10.8
30 cerebral atrophy 10.8
31 mitochondrial complex iv deficiency 10.2
32 mitochondrial myopathy, infantile, transient 10.1 MT-CYB MT-ND6
33 cerebritis 10.1
34 parkinson disease, mitochondrial 10.1 MT-CYB MT-ND6
35 cortical blindness 10.1 MT-ND4 MT-ND6
36 3-methylglutaconic aciduria, type v 10.0 MT-ND4 TYMP
37 sparganosis 10.0 MT-CYB MT-ND4
38 epilepsy 10.0
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
40 diabetes mellitus 9.9
41 hypertrophic cardiomyopathy 9.9
42 carrion's disease 9.9 MT-CYB MT-ND4
43 myoclonus 9.9
44 myoclonus and ataxia 9.8
45 retinoblastoma 9.8
46 aging 9.8
47 anorexia nervosa 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 41)
# 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
rituximab Approved Phase 2 174722-31-7 10201696
5
alemtuzumab Approved, Investigational Phase 2 216503-57-0
6
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
7
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
8
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
9
Busulfan Approved, Investigational Phase 2 55-98-1 2478
10
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
11
Tocopherol Approved, Investigational, Nutraceutical Phase 2 1406-66-2 14986
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 Antioxidants Phase 2,Early Phase 1
17 Protective Agents Phase 2,Early Phase 1
18 Alkylating Agents Phase 2
19 Thioctic Acid Phase 2
20 Tocopherols Phase 2
21 Tocotrienols Phase 2
22 N-monoacetylcystine Phase 2
23 Vitamins Phase 2
24 Immunosuppressive Agents Phase 2
25 Antilymphocyte Serum Phase 2
26 Antimetabolites Phase 2
27 Antimetabolites, Antineoplastic Phase 2
28 Antineoplastic Agents, Alkylating Phase 2
29 arginine Nutraceutical Phase 2,Early Phase 1
30 Tocotrienol Investigational, Nutraceutical Phase 2 6829-55-6
31 Alpha-lipoic Acid Nutraceutical Phase 2
32
Nitric Oxide Approved Early Phase 1 10102-43-9 145068 160954
33 Respiratory System Agents Early Phase 1
34 Neurotransmitter Agents Early Phase 1
35 Vasodilator Agents Early Phase 1
36 Anti-Asthmatic Agents Early Phase 1
37 Endothelium-Dependent Relaxing Factors Early Phase 1
38 Peripheral Nervous System Agents Early Phase 1
39 Autonomic Agents Early Phase 1
40 Bronchodilator Agents Early Phase 1
41 pyruvate Nutraceutical

Interventional clinical trials:

(show all 20)
# 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 Long-term Extension of Study RP103-MITO-001 (NCT02023866) to Assess Cysteamine Bitartrate Delayed-release Capsules (RP103) in Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
9 A Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
10 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers Completed 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 MNGIE Allogeneic Hematopoietic Stem Cell Transplant Safety Study Recruiting NCT02427178 Phase 1
12 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
13 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
14 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
15 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
16 Natural History Study - Mitochondrial Disease Recruiting NCT01532791
17 The Leigh Syndrome Registry Recruiting NCT03137355
18 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
19 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871 Not Applicable
20 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:

41
Brain, Liver, Skeletal Muscle, Cortex, Heart, Skin, Eye

Publications for Encephalomyopathy

Articles related to Encephalomyopathy:

(show top 50) (show all 447)
# Title Authors Year
1
Right Brain: Withholding treatment from a child with an epileptic encephalomyopathy. ( 29712807 )
2018
2
A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency. ( 29044765 )
2018
3
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. ( 29327420 )
2018
4
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
5
NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy. ( 29429571 )
2018
6
Letter to the Editor: Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification. ( 29559858 )
2018
7
Long-Term Sustained Effect of Liver-Targeted Adeno-Associated Virus Gene Therapy for Mitochondrial Neurogastrointestinal Encephalomyopathy. ( 29284302 )
2018
8
Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy. ( 29460827 )
2018
9
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. ( 29217198 )
2018
10
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry. ( 29480536 )
2018
11
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
12
Comparison of magnetic resonance spectroscopy (MRS) with arterial spin labeling (ASL) in the differentiation between mitochondrial encephalomyopathy, lactic Acidosis, plus stroke-like episodes (MELAS) and acute ischemic stroke (AIS). ( 29921486 )
2018
13
Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report. ( 29200367 )
2017
14
Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to data sharing of whole exome sequencing data. ( 28155230 )
2017
15
Mitochondrial Neurogastrointestinal Encephalomyopathy in the Differential Diagnosis of Eating Disorders. ( 28935389 )
2017
16
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
17
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy. ( 28412374 )
2017
18
Transient clinical improvement of a mitochondrial neurogastrointestinal encephalomyopathy-like syndrome after allogeneic haematopoietic stem cell transplantation. ( 28765176 )
2017
19
Respiratory chain complex III deficiency due to mutated BCS1L: a novel phenotype with encephalomyopathy, partially phenocopied in a Bcs1l mutant mouse model. ( 28427446 )
2017
20
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy. ( 28695670 )
2017
21
Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. ( 28261062 )
2017
22
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. ( 28299359 )
2017
23
Combined Respiratory Chain Deficiency and UQCC2 Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies. ( 28804536 )
2017
24
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome with an Unusual Pattern of Inheritance. ( 28904474 )
2017
25
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction. ( 28811861 )
2017
26
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology. ( 28116243 )
2017
27
Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome Treated with Stem Cell Transplant: A Case Series and Literature Review. ( 28411356 )
2017
28
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
29
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
30
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
31
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report. ( 28228835 )
2017
32
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
33
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. ( 29217043 )
2017
34
Liver transplant reverses biochemical imbalance in mitochondrial neurogastrointestinal encephalomyopathy. ( 28263873 )
2017
35
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
36
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) mimicking refractory celiac disease. ( 28539227 )
2017
37
Pearls & Oy-sters: Mitochondrial neurogastrointestinal encephalomyopathy: Diagnosis and response to peritoneal dialysis. ( 27044617 )
2016
38
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
39
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
40
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
41
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed. ( 28124854 )
2016
42
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
43
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
44
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
45
ITA-MNGIE: an Italian regional and national survey for mitochondrial neuro-gastro-intestinal encephalomyopathy. ( 27007276 )
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
Liver transplantation for mitochondrial neurogastrointestinal encephalomyopathy. ( 27421916 )
2016
48
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
49
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
50
Mitochondrial Neurogastrointestinal Encephalomyopathy Presenting as Anorexia Nervosa. ( 27743770 )
2016

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 9.76 AIFM1 C12orf65 COX6B1 MT-CYB MT-ND1 MT-ND4
2 mitochondrial membrane GO:0031966 9.5 MT-ND1 MT-ND4 MT-ND6
3 mitochondrial inner membrane GO:0005743 9.5 AIFM1 COX6B1 MT-CYB MT-ND1 MT-ND4 MT-ND5
4 mitochondrial respiratory chain complex I GO:0005747 9.43 MT-ND1 MT-ND4 MT-ND5
5 mitochondrial intermembrane space GO:0005758 9.37 AIFM1 COX6B1
6 respiratory chain GO:0070469 9.02 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6

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

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.63 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 response to hypoxia GO:0001666 9.54 MT-CYB MT-ND4 MT-ND5
3 response to hydrogen peroxide GO:0042542 9.46 MT-ND5 MT-ND6
4 response to nicotine GO:0035094 9.43 MT-ND4 MT-ND6
5 response to organonitrogen compound GO:0010243 9.4 MT-CYB MT-ND5
6 ATP synthesis coupled electron transport GO:0042773 9.32 MT-ND4 MT-ND5
7 electron transport coupled proton transport GO:0015990 9.26 MT-CYB MT-ND4
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND1 MT-ND4 MT-ND5 MT-ND6
9 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 9.63 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 NADH dehydrogenase activity GO:0003954 9.13 MT-ND1 MT-ND4 MT-ND5
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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