MCID: MTC004
MIFTS: 43

Mitochondrial Encephalomyopathy

Categories: Muscle diseases, Neuronal diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy

MalaCards integrated aliases for Mitochondrial Encephalomyopathy:

Name: Mitochondrial Encephalomyopathy 12 29 6 15
Mitochondrial Encephalomyopathies 44 73

Classifications:



External Ids:

Disease Ontology 12 DOID:890
MeSH 44 D017237
SNOMED-CT 68 447292006
UMLS 73 C0162666

Summaries for Mitochondrial Encephalomyopathy

MalaCards based summary : Mitochondrial Encephalomyopathy, also known as mitochondrial encephalomyopathies, is related to encephalomyopathy and mitochondrial complex iv deficiency. An important gene associated with Mitochondrial Encephalomyopathy is MT-CYB (Mitochondrially Encoded Cytochrome B), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. The drugs Vaccines and Cysteamine have been mentioned in the context of this disorder. Affiliated tissues include brain, skeletal muscle and heart.

Wikipedia : 76 A Mitochondrial encephalomyopathy is a form of encephalomyopathy that is associated with a mitochondrial... more...

Related Diseases for Mitochondrial Encephalomyopathy

Diseases in the Mitochondrial Encephalomyopathy family:

Fastkd2-Related Infantile Mitochondrial Encephalomyopathy

Diseases related to Mitochondrial Encephalomyopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 encephalomyopathy 33.5 AIFM1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
2 mitochondrial complex iv deficiency 30.8 FASTKD2 MT-CO1 MT-ND3 MT-TL1
3 3-methylglutaconic aciduria, type iii 30.6 MFF MT-ND4 MT-ND6
4 lactic acidosis 30.6 LARS2 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
5 myoclonic epilepsy associated with ragged-red fibers 30.2 MT-ND4 MT-ND5 MT-TK MT-TL1
6 mitochondrial metabolism disease 30.0 MT-ND3 MT-ND5 MT-ND6 MT-TK NDUFA1
7 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.0 FASTKD2 LARS2 MT-CO1 MT-ND1 MT-ND3 MT-ND4
8 kearns-sayre syndrome 29.7 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
9 mitochondrial myopathy 29.2 MT-CO1 MT-CYB MT-ND1 MT-ND4 MT-ND5 MT-ND6
10 mitochondrial disorders 28.6 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TK
11 fastkd2-related infantile mitochondrial encephalomyopathy 12.0
12 combined oxidative phosphorylation deficiency 6 11.6
13 mitochondrial dna depletion syndrome 5 11.0
14 congenital intrauterine infection-like syndrome 11.0
15 cerebral atrophy 11.0
16 mitochondrial myopathy, infantile, transient 11.0 MT-CYB MT-ND6
17 parkinson disease, mitochondrial 11.0 MT-CYB MT-ND6
18 myiasis 10.9 MT-CO1 MT-ND5
19 deafness, aminoglycoside-induced 10.9 MT-CO1 MT-ND4
20 striatonigral degeneration, infantile, mitochondrial 10.9 MT-ND3 MT-ND4
21 parkinson disease 6, autosomal recessive early-onset 10.9 MT-CYB MT-ND5 MT-ND6
22 myopathy, lactic acidosis, and sideroblastic anemia 3 10.9 MT-ND3 MT-ND4
23 coenurosis 10.9 MT-CO1 MT-ND1
24 amelogenesis imperfecta, type iv 10.8 MT-CO1 MT-CYB
25 striatonigral degeneration, infantile 10.8 MT-ND3 MT-ND4
26 ataxia and polyneuropathy, adult-onset 10.8 MT-ND3 MT-ND4
27 phlebotomus fever 10.8 MT-CYB MT-ND1
28 taeniasis 10.8 MT-CO1 MT-ND1
29 cortical blindness 10.7 MT-ND4 MT-ND6
30 myasthenic syndrome, congenital, 10 10.7 MT-CO1 MT-CYB
31 cranial nerve disease 10.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
32 parasitic helminthiasis infectious disease 10.7 MFF MT-CO1 MT-ND1
33 deafness, nonsyndromic sensorineural, mitochondrial 10.7 MT-CO1 MT-ND1 MT-ND4 MT-ND5
34 leber optic atrophy and dystonia 10.7 MT-ND1 MT-ND3 MT-ND4 MT-ND6
35 diabetes and deafness, maternally inherited 10.7 MT-TK MT-TL1
36 sparganosis 10.6 MT-CO1 MT-CYB MT-ND3 MT-ND4
37 myopathy, lactic acidosis, and sideroblastic anemia 10.6 MT-ND3 MT-ND4 MT-TK
38 succinate-coa ligase deficiency 10.6 SUCLA2 SUCLG1
39 neuropathy 10.6 AIFM1 MT-ND1 MT-ND4 MT-ND6
40 diphyllobothriasis 10.5 MT-CO1 MT-ND3 MT-ND5 MT-TL1
41 mitochondrial dna depletion syndrome 1 10.4 MT-ND3 MT-TK
42 cysticercosis 10.4 MT-CO1 MT-ND1
43 maternally-inherited progressive external ophthalmoplegia 10.4 MT-TL1 MT-TL2
44 familial colorectal cancer 10.3 MT-CO1 MT-CYB MT-ND3 MT-ND4 MT-ND5 MT-ND6
45 exposure keratitis 10.3 MT-ND4 NDUFA1
46 optic nerve disease 10.2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 NDUFA1
47 cerebritis 10.2
48 cystic echinococcosis 10.2 MT-CO1 MT-ND1
49 leber optic atrophy 10.1 MT-CO1 MT-CYB MT-ND1 MT-ND3 MT-ND4 MT-ND5
50 epilepsy 10.1

Graphical network of the top 20 diseases related to Mitochondrial Encephalomyopathy:



Diseases related to Mitochondrial Encephalomyopathy

Symptoms & Phenotypes for Mitochondrial Encephalomyopathy

Drugs & Therapeutics for Mitochondrial Encephalomyopathy

Drugs for Mitochondrial 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 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 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 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 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
17 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871 Not Applicable
18 The Leigh Syndrome Registry Recruiting NCT03137355

Search NIH Clinical Center for Mitochondrial Encephalomyopathy

Cochrane evidence based reviews: mitochondrial encephalomyopathies

Genetic Tests for Mitochondrial Encephalomyopathy

Genetic tests related to Mitochondrial Encephalomyopathy:

# Genetic test Affiliating Genes
1 Mitochondrial Encephalomyopathy 29

Anatomical Context for Mitochondrial Encephalomyopathy

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy:

41
Brain, Skeletal Muscle, Heart, Cortex, Pituitary, Skin, Endothelial

Publications for Mitochondrial Encephalomyopathy

Articles related to Mitochondrial Encephalomyopathy:

(show top 50) (show all 286)
# Title Authors Year
1
Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy. ( 29327420 )
2018
2
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
3
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
4
Repeated Attacks of Dizziness Caused by a Rare Mitochondrial Encephalomyopathy. ( 29460827 )
2018
5
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. ( 29217198 )
2018
6
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes with severe systemic symptoms: Pathology and biochemistry. ( 29480536 )
2018
7
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
8
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
9
Anesthetic Management in Mitochondrial Encephalomyopathy: A Case Report. ( 29200367 )
2017
10
Uncommon mutation in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). ( 28242802 )
2017
11
Mitochondrial dysfunction and cerebral metabolic abnormalities in patients with mitochondrial encephalomyopathy subtypes: Evidence from proton MR spectroscopy and muscle biopsy. ( 28695670 )
2017
12
Importance of Distinguishing Between Mitochondrial Encephalomyopathy With Elderly Onset of Stroke-Like Episodes and Cerebral Infarction. ( 28811861 )
2017
13
Late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS), defining symptomology. ( 28116243 )
2017
14
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
15
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
16
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
17
Recurrent Alternate-Sided Homonymous Hemianopia Due to Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report. ( 28228835 )
2017
18
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
19
Retinal detachment and microangiopathy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome. ( 29217043 )
2017
20
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 28179631 )
2017
21
Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. ( 26954033 )
2016
22
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. ( 26935953 )
2016
23
The ATP-sensitive K channel is seizure protective and required for effective dietary therapy in a model of mitochondrial encephalomyopathy. ( 27868454 )
2016
24
MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, Stroke) - a Diagnosis Not to be Missed. ( 28124854 )
2016
25
Case report: 5A year follow-up of adult late-onset mitochondrial encephalomyopathy with lactic acid and stroke-like episodes (MELAS). ( 27896131 )
2016
26
Epilepsy Characteristics and Clinical Outcome in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). ( 27671241 )
2016
27
Polyhydramnios and cerebellar atrophy: a prenatal presentation of mitochondrial encephalomyopathy caused by mutations in the FBXL4 gene. ( 27099744 )
2016
28
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. ( 26797286 )
2016
29
Mitochondrial Encephalomyopathy With Lactic Acidosis and Strokelike Episodes Presenting Before 50 Years of Age: When a Stroke Is Not Just a Stroke. ( 26953663 )
2016
30
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
31
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
32
Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. ( 26185144 )
2015
33
A slowly progressive mitochondrial encephalomyopathy widens the spectrum of AIFM1 disorders. ( 25934856 )
2015
34
RNASEH1 Mutations Impair mtDNA Replication and Cause Adult-Onset Mitochondrial Encephalomyopathy. ( 26094573 )
2015
35
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes. ( 26261593 )
2015
36
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. ( 26561570 )
2015
37
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. ( 25993630 )
2015
38
Focal and Generalized Seizures May Occur in Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes (MELAS) Patients. ( 25637648 )
2015
39
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy. ( 25736212 )
2015
40
Recurrent Stroke-Like Episodes in FBXL4-Associated Early-Onset Mitochondrial Encephalomyopathy. ( 26421988 )
2015
41
Adrenal Insufficiency in Mitochondrial Disease: A Rare Case of GFER-Related Mitochondrial Encephalomyopathy and Review of the Literature. ( 26018198 )
2015
42
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
43
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) in the older adult. ( 24828681 )
2014
44
Phenotypic analysis of epilepsy in the mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes-associated mitochondrial DNA A3243G mutation. ( 25038129 )
2014
45
VARS2 and TARS2 mutations in patients with mitochondrial encephalomyopathies. ( 24827421 )
2014
46
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. ( 24655600 )
2014
47
Mitochondrial encephalomyopathy: towards diagnosis. A case report. ( 24636775 )
2014
48
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. ( 24986829 )
2014
49
Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene. ( 24956508 )
2014
50
A novel mitochondrial tRNA Arg mutation resulting in an anticodon swap in a patient with mitochondrial encephalomyopathy. ( 22781096 )
2013

Variations for Mitochondrial Encephalomyopathy

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy:

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TL2 m.12315G> A single nucleotide variant Pathogenic rs121434462 GRCh37 Chromosome MT, 12315: 12315
2 MT-TL2 m.12315G> A single nucleotide variant Pathogenic rs121434462 GRCh38 Chromosome MT, 12315: 12315
3 MT-TL1 m.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh37 Chromosome MT, 3252: 3252
4 MT-TL1 m.3252A> G single nucleotide variant Pathogenic rs199474661 GRCh38 Chromosome MT, 3252: 3252
5 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh37 Chromosome MT, 10438: 10438
6 MT-TR m.10438A> G single nucleotide variant Pathogenic rs121434456 GRCh38 Chromosome MT, 10438: 10438
7 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh37 Chromosome MT, 15242: 15242
8 MT-CYB m.15242G> A single nucleotide variant Pathogenic rs207459999 GRCh38 Chromosome MT, 15242: 15242
9 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh38 Chromosome MT, 10450: 10450
10 MT-TR m.10450A> G single nucleotide variant Pathogenic rs387906731 GRCh37 Chromosome MT, 10450: 10450
11 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh38 Chromosome MT, 5556: 5556
12 MT-TW m.5556G> A single nucleotide variant Pathogenic rs387906736 GRCh37 Chromosome MT, 5556: 5556
13 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Likely pathogenic rs397514610 GRCh37 Chromosome 6, 5369234: 5369234
14 FARS2 NM_006567.4(FARS2): c.431A> G (p.Tyr144Cys) single nucleotide variant Likely pathogenic rs397514610 GRCh38 Chromosome 6, 5369001: 5369001
15 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh37 Chromosome 2, 228195493: 228195493
16 MFF NM_020194.5(MFF): c.190C> T (p.Gln64Ter) single nucleotide variant Pathogenic/Likely pathogenic rs397514615 GRCh38 Chromosome 2, 227330777: 227330777
17 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh37 Chromosome 6, 99323549: 99323549
18 FBXL4 NM_012160.4(FBXL4): c.1444C> T (p.Arg482Trp) single nucleotide variant Pathogenic/Likely pathogenic rs398123061 GRCh38 Chromosome 6, 98875673: 98875673

Copy number variations for Mitochondrial Encephalomyopathy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 267521 mtDNA 1 16569 Copy number Mitochondrial encephalomyopathy

Expression for Mitochondrial Encephalomyopathy

Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy.

Pathways for Mitochondrial Encephalomyopathy

GO Terms for Mitochondrial Encephalomyopathy

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrial inner membrane GO:0005743 9.85 AIFM1 MT-CO1 MT-CYB MT-ND1 MT-ND3 MT-ND4
2 mitochondrion GO:0005739 9.83 AIFM1 FASTKD2 FBXL4 LARS2 MFF MT-CO1
3 mitochondrial membrane GO:0031966 9.72 MT-ND1 MT-ND3 MT-ND4 MT-ND6 NDUFA1
4 mitochondrial respiratory chain complex I GO:0005747 9.65 MT-ND1 MT-ND3 MT-ND4 MT-ND5 NDUFA1
5 mitochondrial respiratory chain complex III GO:0005750 9.37 MT-CO1 MT-CYB
6 respiratory chain GO:0070469 9.23 MT-CO1 MT-CYB MT-ND1 MT-ND3 MT-ND4 MT-ND5

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.81 AIFM1 MT-CO1 MT-CYB MT-ND1 MT-ND3 MT-ND4
2 response to hypoxia GO:0001666 9.69 MT-CYB MT-ND4 MT-ND5
3 tricarboxylic acid cycle GO:0006099 9.49 SUCLA2 SUCLG1
4 cellular respiration GO:0045333 9.48 FASTKD2 MT-ND1
5 respiratory electron transport chain GO:0022904 9.46 MT-CO1 MT-CYB
6 response to copper ion GO:0046688 9.43 MT-CO1 MT-CYB
7 electron transport coupled proton transport GO:0015990 9.43 MT-CO1 MT-CYB MT-ND4
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.43 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFA1
9 succinate metabolic process GO:0006105 9.4 SUCLA2 SUCLG1
10 ATP synthesis coupled electron transport GO:0042773 9.37 MT-ND4 MT-ND5
11 succinyl-CoA metabolic process GO:0006104 9.32 SUCLA2 SUCLG1
12 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.1 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFA1

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.56 AIFM1 MT-CO1 MT-CYB MT-ND1 MT-ND3 MT-ND4
2 ligase activity GO:0016874 9.5 LARS2 SUCLA2 SUCLG1
3 NADH dehydrogenase activity GO:0003954 9.33 MT-ND1 MT-ND4 MT-ND5
4 succinate-CoA ligase (ADP-forming) activity GO:0004775 9.26 SUCLA2 SUCLG1
5 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.1 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6 NDUFA1

Sources for Mitochondrial 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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