MELAS
MCID: MTC023
MIFTS: 44

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS)

Categories: Rare diseases

Aliases & Classifications for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

MalaCards integrated aliases for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 20 6 37
Melas Syndrome 20 43
Melas 20 43
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 43
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 43
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 43
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 43

Classifications:



Summaries for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

MedlinePlus Genetics : 43 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).Most people with MELAS have a buildup of lactic acid in their bodies, a condition called lactic acidosis. Increased acidity in the blood can lead to vomiting, abdominal pain, extreme tiredness (fatigue), muscle weakness, and difficulty breathing. Less commonly, people with MELAS may experience involuntary muscle spasms (myoclonus), impaired muscle coordination (ataxia), hearing loss, heart and kidney problems, diabetes, and hormonal imbalances.

MalaCards based summary : Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial complex i deficiency, nuclear type 1 and diabetes and deafness, maternally inherited. An important gene associated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes is MT-ND1 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1), and among its related pathways/superpathways are Prion disease and GABAergic synapse. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include kidney, heart and pituitary.

GARD : 20 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance ). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother.

Related Diseases for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 358)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency, nuclear type 1 31.3 MT-ND6 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
2 diabetes and deafness, maternally inherited 31.3 MT-TL1 MT-TK MT-TE
3 cortical blindness 31.2 MT-ND6 MT-ND5 MT-ND4 MT-ND1
4 mitochondrial metabolism disease 31.1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
5 mitochondrial complex iv deficiency, nuclear type 1 31.0 MT-TN MT-TL1 MT-CO1
6 early myoclonic encephalopathy 30.6 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
7 3-methylglutaconic aciduria, type iii 30.5 MT-ND6 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
8 mitochondrial encephalomyopathy 30.5 MT-TT MT-TS1 MT-TL2 MT-TL1 MT-TK MT-ND6
9 hypertrophic cardiomyopathy 30.4 MT-TL1 MT-TI MT-ND5 MT-ND1 MT-CO1 MT-ATP6
10 mitochondrial myopathy 30.4 MT-TT MT-TS1 MT-TL2 MT-TL1 MT-TF MT-TE
11 peripheral nervous system disease 30.3 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
12 sensorineural hearing loss 30.3 MT-TS1 MT-TL1 MT-ND6 MT-ND5 MT-CO1 MT-ATP6
13 optic nerve disease 30.2 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
14 leber optic atrophy and dystonia 30.1 MT-ND6 MT-ND4 MT-ND1
15 hereditary optic neuropathy 30.1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
16 kearns-sayre syndrome 30.1 MT-TL2 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
17 mitochondrial dna depletion syndrome 4a 29.8 MT-TF MT-ND5 MT-ND1 MT-ATP6
18 mitochondrial dna-associated leigh syndrome and narp 29.8 MT-TV MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
19 lactic acidosis 29.8 MT-TT MT-TS1 MT-TQ MT-TL2 MT-TL1 MT-TK
20 parkinson disease, mitochondrial 29.8 MT-TT MT-TP MT-TK
21 neuropathy 29.7 MT-TS1 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
22 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.6 MT-TV MT-TT MT-TS1 MT-TQ MT-TP MT-TN
23 leber plus disease 29.5 MT-TS1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
24 leigh syndrome 29.5 MT-TV MT-TS1 MT-TL1 MT-TK MT-TI MT-ND6
25 myopathy 29.4 MT-TT MT-TS1 MT-TQ MT-TP MT-TN MT-TL2
26 chronic progressive external ophthalmoplegia 29.2 MT-TN MT-TL2 MT-TL1 MT-TK MT-TI MT-TA
27 mitochondrial disorders 28.8 MT-TT MT-TP MT-TN MT-TL2 MT-TL1 MT-TK
28 leber hereditary optic neuropathy, modifier of 28.7 MT-TT MT-TS1 MT-TL2 MT-TL1 MT-TE MT-TA
29 myoclonic epilepsy associated with ragged-red fibers 28.5 MT-TS1 MT-TQ MT-TP MT-TN MT-TL1 MT-TK
30 encephalopathy 11.4
31 stroke, ischemic 10.9
32 mitochondrial complex iv deficiency, nuclear type 5 10.9
33 mohr-tranebjaerg syndrome 10.9
34 myoclonus 10.7
35 yemenite deaf-blind hypopigmentation syndrome 10.6
36 branchiootic syndrome 1 10.6
37 aphasia 10.6
38 end stage renal disease 10.6
39 macular degeneration, age-related, 2 10.6
40 migraine with or without aura 1 10.6
41 3-methylglutaconic aciduria, type i 10.6
42 cyclic vomiting syndrome 10.6
43 macular degeneration, age-related, 1 10.6
44 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.6
45 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.6
46 intestinal pseudo-obstruction 10.6
47 focal segmental glomerulosclerosis 10.6
48 kidney disease 10.6
49 muscular atrophy 10.5
50 encephalitis 10.5

Graphical network of the top 20 diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:



Diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes

Symptoms & Phenotypes for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Drugs & Therapeutics for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Drugs for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 59)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Immunologic Factors Phase 4
2 Vaccines Phase 4
3
Idebenone Approved, Investigational Phase 2 58186-27-9
4
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2 303-98-0 5281915
5 Ubiquinone Phase 2
6 Antioxidants Phase 2
7 Protective Agents Phase 2
8
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
9
Acetaminophen Approved Phase 1 103-90-2 1983
10
Memantine Approved, Investigational Phase 1 19982-08-2 4054
11
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
12
Alprazolam Approved, Illicit, Investigational Phase 1 28981-97-7 2118
13
Oxazepam Approved Phase 1 604-75-1 4616
14
Ramipril Approved Phase 1 87333-19-5 5362129
15
Furosemide Approved, Vet_approved Phase 1 54-31-9 3440
16
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
17
Zopiclone Approved Phase 1 43200-80-2 5735
18
Donepezil Approved Phase 1 120014-06-4 3152
19
Nitric Oxide Approved Phase 1 10102-43-9 145068
20 Psychotropic Drugs Phase 1
21 Dopamine Agents Phase 1
22
protease inhibitors Phase 1
23 Purinergic P2Y Receptor Antagonists Phase 1
24 Hypnotics and Sedatives Phase 1
25 Cholinesterase Inhibitors Phase 1
26 Cholinergic Agents Phase 1
27 Excitatory Amino Acid Antagonists Phase 1
28 Anti-Anxiety Agents Phase 1
29 Angiotensin-Converting Enzyme Inhibitors Phase 1
30 GABA Modulators Phase 1
31 Sodium Potassium Chloride Symporter Inhibitors Phase 1
32 Antiparkinson Agents Phase 1
33 Platelet Aggregation Inhibitors Phase 1
34 Pharmaceutical Solutions Phase 1
35 Nootropic Agents Phase 1
36 Antihypertensive Agents Phase 1
37 Neurotransmitter Agents Phase 1
38 diuretics Phase 1
39 Antipyretics Phase 1
40 HIV Protease Inhibitors Phase 1
41 Analgesics Phase 1
42 Analgesics, Non-Narcotic Phase 1
43
Nicotinamide Approved, Investigational 98-92-0 936
44
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
45
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
46 pyruvate
47 Micronutrients
48 Trace Elements
49 Nutrients
50 Antimetabolites

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease Completed NCT01831934 Phase 4
2 Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial Unknown status NCT00068913 Phase 2 Dichloroacetate
3 Pilot Study to Investigate the Efficacy of L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome. Completed NCT01603446 Phase 2 L-Arginine
4 A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
5 A Phase 2a Safety, Tolerability, Pharmacokinetic, and Pharmacodynamic Study in Individuals With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) Recruiting NCT04475549 Phase 2 IW-6463 Tablets
6 A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation. Recruiting NCT04165239 Phase 2 KH176;KH176;Placebo
7 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Not yet recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
8 A Dose Block-randomized, Double-blind, Placebo-controlled, Single-dose, Dose-escalation, Phase I Clinical Study 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
9 MELA Study - Hedonic Study on the Taste of Drugs Crushed in Food: Observational Study Involving 16 Healthy Volunteers Completed NCT02570581 Phase 1
10 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
11 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
12 Phase-1, Dose Finding and Safety Study on L- Citrulline Treatment of Nitric Oxide Deficiency in MELAS Not yet recruiting NCT03952234 Phase 1 L-Citrulline
13 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
14 Arginine Flux and Nitric Oxide Production in Patients With MELAS Syndrome and the Effect of Arginine and Citrulline Supplementation Completed NCT01339494 Early Phase 1
15 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
16 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
17 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
18 Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations Recruiting NCT01532791
19 Tissue Study for Mitochondrial Disorders Enrolling by invitation NCT01803906

Search NIH Clinical Center for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes

Genetic Tests for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Anatomical Context for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

MalaCards organs/tissues related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

40
Kidney, Heart, Pituitary, Skeletal Muscle, Thyroid, Endothelial, Whole Blood

Publications for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Articles related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

(show top 50) (show all 771)
# Title Authors PMID Year
1
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 61 6
27296531 2016
2
Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome. 61 6
24830958 2014
3
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 6 61
23243073 2013
4
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? 6 61
22781753 2012
5
The role of complex I genes in MELAS: a novel heteroplasmic mutation 3380G>A in ND1 of mtDNA. 61 6
18590963 2008
6
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 6 61
17562939 2007
7
A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. 61 6
15320572 2004
8
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 6 61
11708999 2001
9
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 6 61
11781695 2001
10
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. 61 6
11171912 2001
11
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 61 6
11085913 2001
12
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 6 61
11096278 2001
13
The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. 61 6
10858457 2000
14
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 61 6
10699170 2000
15
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 6 61
10482110 1999
16
Infantile encephalopathy associated with the MELAS A3243G mutation. 6 61
10356136 1999
17
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 61 6
9683591 1998
18
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. 61 6
9619647 1998
19
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 61 6
9299505 1997
20
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 6 61
8818955 1996
21
The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. 61 6
8723072 1996
22
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. 61 6
7554321 1995
23
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. 61 6
8151636 1994
24
A new point mutation associated with mitochondrial encephalomyopathy. 6 61
8111377 1993
25
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 6 61
1323207 1992
26
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 6 61
3395302 1988
27
The diagnostic utility of genome sequencing in a pediatric cohort with suspected mitochondrial disease. 6
32313153 2020
28
Interpretation of mitochondrial tRNA variants. 6
31965079 2020
29
Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth. 6
29350304 2018
30
Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5. 6
26894521 2016
31
Identification of G8969>A in mitochondrial ATP6 gene that severely compromises ATP synthase function in a patient with IgA nephropathy. 6
27812026 2016
32
Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. 6
25652200 2015
33
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. 6
25037980 2014
34
Phenotypic diversity associated with the MT-TV gene m.1644G>A mutation, a matter of quantity. 6
24691472 2014
35
Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders. 6
23847141 2013
36
Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects. 6
23463613 2013
37
Microangiopathy in the cerebellum of patients with mitochondrial DNA disease. 6
22577219 2012
38
A new mitochondrial point mutation in the transfer RNA(Lys) gene associated with progressive external ophthalmoplegia with impaired respiratory regulation. 6
22326363 2012
39
Leigh syndrome caused by a novel m.4296G>A mutation in mitochondrial tRNA isoleucine. 6
21982779 2012
40
Cerebellar ataxia in patients with mitochondrial DNA disease: a molecular clinicopathological study. 6
22249460 2012
41
Maternally inherited mitochondrial DNA disease in consanguineous families. 6
21712854 2011
42
A comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. 6
21882289 2011
43
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. 6
20610441 2010
44
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 6
20697048 2010
45
Helix unwinding and base flipping enable human MTERF1 to terminate mitochondrial transcription. 6
20550934 2010
46
The pathogenic m.3243A>T mitochondrial DNA mutation is associated with a variable neurological phenotype. 6
20471262 2010
47
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations. 6
20064630 2010
48
Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene. 6
20142618 2010
49
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why? 6
19718780 2009
50
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy. 6
19720722 2009

Variations for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

ClinVar genetic disease variations for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

6 (show top 50) (show all 572)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MT-ND5 m.12770A>G SNV Pathogenic 9699 rs267606894 GRCh37: MT:12770-12770
GRCh38: MT:12770-12770
2 MT-ND5 m.13084A>T SNV Pathogenic 9701 rs267606896 GRCh37: MT:13084-13084
GRCh38: MT:13084-13084
3 MT-ND1 m.3949T>C SNV Pathogenic 9735 rs199476124 GRCh37: MT:3949-3949
GRCh38: MT:3949-3949
4 MT-TL1 m.3251A>G SNV Pathogenic 9595 rs199474662 GRCh37: MT:3251-3251
GRCh38: MT:3251-3251
5 MT-TL1 NC_012920.1(MT-CYB):m.3255G>A SNV Pathogenic 689861 rs1603218856 GRCh37: MT:3255-3255
GRCh38: MT:3255-3255
6 MT-TL1 m.3274A>G SNV Pathogenic 9598 rs199474666 GRCh37: MT:3274-3274
GRCh38: MT:3274-3274
7 MT-TW NC_012920.1(MT-CYB):m.5536_5537insT Insertion Pathogenic 689929 rs1603220010 GRCh37: MT:5536-5537
GRCh38: MT:5536-5537
8 MT-TW NC_012920.1(MT-CYB):m.5538G>A SNV Pathogenic 689930 rs1603220012 GRCh37: MT:5538-5538
GRCh38: MT:5538-5538
9 MT-TW NC_012920.1(MT-CYB):m.5540G>A SNV Pathogenic 689933 rs1603220014 GRCh37: MT:5540-5540
GRCh38: MT:5540-5540
10 MT-TW NC_012920.1(MT-CYB):m.5543T>C SNV Pathogenic 689935 rs1603220016 GRCh37: MT:5543-5543
GRCh38: MT:5543-5543
11 MT-TF m.586G>A SNV Pathogenic 30005 rs387906734 GRCh37: MT:586-586
GRCh38: MT:586-586
12 MT-TP m.15967G>A SNV Pathogenic 9572 rs199474701 GRCh37: MT:15967-15967
GRCh38: MT:15967-15967
13 MT-TF m.583G>A SNV Pathogenic 9573 rs118203885 GRCh37: MT:583-583
GRCh38: MT:583-583
14 MT-TQ m.4332G>A SNV Pathogenic 9616 rs199476141 GRCh37: MT:4332-4332
GRCh38: MT:4332-4332
15 MT-TF m.616T>C SNV Pathogenic 9576 rs387906420 GRCh37: MT:616-616
GRCh38: MT:616-616
16 MT-TV m.1606G>A SNV Pathogenic 9548 rs199476143 GRCh37: MT:1606-1606
GRCh38: MT:1606-1606
17 MT-TL1 m.3260A>G SNV Pathogenic 9596 rs199474663 GRCh37: MT:3260-3260
GRCh38: MT:3260-3260
18 MT-TL1 NC_012920.1:m.3291T>C SNV Pathogenic 223247 rs869312463 GRCh37: MT:3291-3291
GRCh38: MT:3291-3291
19 MT-TL1 m.3303C>T SNV Pathogenic 9592 rs199474660 GRCh37: MT:3303-3303
GRCh38: MT:3303-3303
20 MT-TN m.5728T>C SNV Pathogenic 9622 rs199476132 GRCh37: MT:5728-5728
GRCh38: MT:5728-5728
21 MT-TS1 m.7497G>A SNV Pathogenic 9569 rs387906419 GRCh37: MT:7497-7497
GRCh38: MT:7497-7497
22 MT-TS1 m.7511T>C SNV Pathogenic 9566 rs199474821 GRCh37: MT:7511-7511
GRCh38: MT:7511-7511
23 MT-TH m.12147G>A SNV Pathogenic 9610 rs121434474 GRCh37: MT:12147-12147
GRCh38: MT:12147-12147
24 MT-TV NC_012920.1(MT-CYB):m.1644G>A SNV Pathogenic 689846 rs587776441 GRCh37: MT:1644-1644
GRCh38: MT:1644-1644
25 MT-TL1 NC_012920.1(MT-CYB):m.3243A>T SNV Pathogenic 689856 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
26 MT-TL1 NC_012920.1(MT-CYB):m.3302A>G SNV Pathogenic 689871 rs1603218878 GRCh37: MT:3302-3302
GRCh38: MT:3302-3302
27 MT-TI NC_012920.1(MT-CYB):m.4298G>A SNV Pathogenic 689874 rs1603219395 GRCh37: MT:4298-4298
GRCh38: MT:4298-4298
28 MT-ND1 NC_012920.1:m.3380G>A SNV Pathogenic 692346 rs1603218926 GRCh37: MT:3380-3380
GRCh38: MT:3380-3380
29 MT-TT NC_012920.1(MT-CYB):m.15915G>A SNV Pathogenic 690233 rs1603225588 GRCh37: MT:15915-15915
GRCh38: MT:15915-15915
30 MT-TE NC_012920.1(MT-CYB):m.14739G>A SNV Pathogenic 690211 rs1603224850 GRCh37: MT:14739-14739
GRCh38: MT:14739-14739
31 MT-TK NC_012920.1(MT-CYB):m.8362T>G SNV Pathogenic 690084 rs1603221423 GRCh37: MT:8362-8362
GRCh38: MT:8362-8362
32 MT-TS1 m.7512T>C SNV Pathogenic 9562 rs199474817 GRCh37: MT:7512-7512
GRCh38: MT:7512-7512
33 MT-TS1 NC_012920.1:m.7471dup Duplication Pathogenic 42226 rs111033319 GRCh37: MT:7465-7466
GRCh38: MT:7465-7466
34 MT-TL2 NC_012920.1(MT-CYB):m.12276G>A SNV Pathogenic 690181 rs1603223645 GRCh37: MT:12276-12276
GRCh38: MT:12276-12276
35 MT-TE NC_012920.1(MT-CYB):m.14710G>A SNV Pathogenic 690207 rs1603224840 GRCh37: MT:14710-14710
GRCh38: MT:14710-14710
36 MT-ND5 NC_012920.1:m.13094T>C SNV Pathogenic 693516 rs1603224029 GRCh37: MT:13094-13094
GRCh38: MT:13094-13094
37 MT-TL1 m.3271T>C SNV Pathogenic 9590 rs199474658 GRCh37: MT:3271-3271
GRCh38: MT:3271-3271
38 MT-ND6 m.14453G>A SNV Pathogenic 9692 rs199476107 GRCh37: MT:14453-14453
GRCh38: MT:14453-14453
39 MT-ND5 m.13513G>A SNV Pathogenic 9702 rs267606897 GRCh37: MT:13513-13513
GRCh38: MT:13513-13513
40 MT-ND4 m.11084A>G SNV Pathogenic 9709 rs199476113 GRCh37: MT:11084-11084
GRCh38: MT:11084-11084
41 MT-ND1 m.3946G>A SNV Pathogenic 9734 rs199476123 GRCh37: MT:3946-3946
GRCh38: MT:3946-3946
42 MT-TL1 m.3271T>C SNV Pathogenic 9590 rs199474658 GRCh37: MT:3271-3271
GRCh38: MT:3271-3271
43 MT-TA m.5591G>A SNV Pathogenic 9625 rs121434458 GRCh37: MT:5591-5591
GRCh38: MT:5591-5591
44 MT-TS1 , MT-CO1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
45 MT-TK m.8356T>C SNV Pathogenic 9580 rs118192099 GRCh37: MT:8356-8356
GRCh38: MT:8356-8356
46 MT-TK m.8363G>A SNV Pathogenic 9581 rs118192100 GRCh37: MT:8363-8363
GRCh38: MT:8363-8363
47 MT-TL2 m.12315G>A SNV Pathogenic 9586 rs121434462 GRCh37: MT:12315-12315
GRCh38: MT:12315-12315
48 MT-TL1 m.3256C>T SNV Pathogenic 9591 rs199474659 GRCh37: MT:3256-3256
GRCh38: MT:3256-3256
49 MT-TW m.5521G>A SNV Pathogenic 9556 rs199474673 GRCh37: MT:5521-5521
GRCh38: MT:5521-5521
50 MT-ND1 NC_012920.1:m.3481G>A SNV Pathogenic 155880 rs587776433 GRCh37: MT:3481-3481
GRCh38: MT:3481-3481

Expression for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes.

Pathways for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Pathways related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
2
Show member pathways
11.97 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3
Show member pathways
11.71 MT-TV MT-TT MT-TS1 MT-TQ MT-TP MT-TN

GO Terms for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

Cellular components related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial membrane GO:0031966 9.43 MT-ND6 MT-ND4 MT-ND1
2 mitochondrial inner membrane GO:0005743 9.43 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
3 mitochondrial respiratory chain complex I GO:0005747 9.33 MT-ND5 MT-ND4 MT-ND1
4 respiratory chain GO:0070469 9.02 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1

Biological processes related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.46 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 aerobic respiration GO:0009060 9.43 MT-ND4 MT-ND1 MT-CO1
4 response to nicotine GO:0035094 9.4 MT-ND6 MT-ND4
5 ATP synthesis coupled electron transport GO:0042773 9.32 MT-ND5 MT-ND4
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.26 MT-ND6 MT-ND5 MT-ND4 MT-ND1
7 electron transport coupled proton transport GO:0015990 8.8 MT-ND5 MT-ND4 MT-CO1

Molecular functions related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
2 NADH dehydrogenase (ubiquinone) activity GO:0008137 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

Sources for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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