MELAS
MCID: MTC114
MIFTS: 62

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

MalaCards integrated aliases for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

Name: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 57 12
Melas Syndrome 57 12 36 44 15 70
Melas 57 73 25 58 72
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 72
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 39
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 58
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 58
Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 58

Characteristics:

Orphanet epidemiological data:

58
melas
Inheritance: Mitochondrial inheritance,Not applicable; Prevalence: 1-9/1000000 (Japan),1-9/1000000 (Europe),1-5/10000 (Finland),>1/1000; Age of onset: Adolescent,Adult,Childhood; Age of death: adolescent,adult,elderly,late childhood,young Adult;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
variable severity
variable age at onset
the mttl1 c.3243a-g transition is the most common mutation

Inheritance:
mitochondrial


HPO:

31
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes:
Onset and clinical course variable expressivity
Inheritance mitochondrial inheritance


GeneReviews:

25
Penetrance In mtdna-related disorders, penetrance typically depends on mutational load and tissue distribution, which show random variation within families (see causes of phenotypic variability).

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

OMIM® : 57 MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a genetically heterogeneous mitochondrial disorder with a variable clinical phenotype. The disorder is accompanied by features of central nervous system involvement, including seizures, hemiparesis, hemianopsia, cortical blindness, and episodic vomiting (Pavlakis et al., 1984; Montagna et al., 1988). Other mitochondrial encephalomyopathies include Leigh syndrome (LS; 256000), Kearns-Sayre syndrome (KSS; 530000), MERRF syndrome (545000), and Leber optic atrophy (535000). (540000) (Updated 05-Apr-2021)

MalaCards based summary : Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes and mitochondrial myopathy, and has symptoms including myalgia, ophthalmoplegia and hemiparesis. An important gene associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. The drugs Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and heart, and related phenotypes are eeg abnormality and muscle weakness

Disease Ontology : 12 A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.

KEGG : 36 MELAS Syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial DNA and a biochemical deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit genes of complex I have also been reported to cause MELAS.

UniProtKB/Swiss-Prot : 72 Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome: Genetically heterogeneous disorder, characterized by episodic vomiting, seizures, and recurrent cerebral insults resembling strokes and causing hemiparesis, hemianopsia, or cortical blindness.

Wikipedia : 73 Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of... more...

GeneReviews: NBK1233

Related Diseases for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

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

(show top 50) (show all 364)
# Related Disease Score Top Affiliating Genes
1 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 33.7 MT-TW MT-TV MT-TS1 MT-TQ MT-TP MT-TN
2 mitochondrial myopathy 33.0 MT-TW MT-TS1 MT-TL2 MT-TL1 MT-TF MT-TE
3 lactic acidosis 33.0 MT-TW MT-TS1 MT-TQ MT-TL2 MT-TL1 MT-TK
4 myopathy 33.0 MT-TW MT-TS1 MT-TQ MT-TP MT-TN MT-TL2
5 mitochondrial encephalomyopathy 32.3 MT-TW MT-TS1 MT-TL2 MT-TL1 MT-TK MT-ND6
6 mitochondrial complex i deficiency, nuclear type 1 32.3 MT-ND6 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
7 mitochondrial metabolism disease 32.1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
8 mitochondrial disorders 31.9 MT-TW MT-TP MT-TN MT-TL2 MT-TL1 MT-TK
9 cortical blindness 31.9 MT-ND6 MT-ND5 MT-ND4 MT-ND1
10 diabetes and deafness, maternally inherited 31.8 MT-TL1 MT-TK MT-TE
11 sensorineural hearing loss 31.7 MT-TS1 MT-TL1 MT-ND6 MT-ND5 MT-CO1 MT-ATP6
12 mitochondrial complex iv deficiency, nuclear type 1 31.7 MT-TN MT-TL1 MT-CO1
13 leigh syndrome 31.6 MT-TW MT-TV MT-TS1 MT-TL1 MT-TK MT-TI
14 kearns-sayre syndrome 31.6 MT-TL2 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
15 chronic progressive external ophthalmoplegia 31.6 MT-TN MT-TL2 MT-TL1 MT-TK MT-TI MT-TA
16 early myoclonic encephalopathy 31.6 MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ATP6
17 3-methylglutaconic aciduria, type iii 31.5 MT-ND6 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
18 myoclonic epilepsy associated with ragged-red fibers 31.4 MT-TS1 MT-TQ MT-TP MT-TN MT-TL1 MT-TK
19 neuropathy 31.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
20 hypertrophic cardiomyopathy 31.3 MT-TL1 MT-TI MT-ND5 MT-ND1 MT-CO1 MT-ATP6
21 optic nerve disease 31.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
22 hereditary optic neuropathy 31.3 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
23 mitochondrial dna-associated leigh syndrome and narp 31.2 MT-TW MT-TV MT-TL1 MT-TK MT-ND6 MT-ND5
24 leber hereditary optic neuropathy, modifier of 31.2 MT-TS1 MT-TL2 MT-TL1 MT-TE MT-TA MT-ND6
25 peripheral nervous system disease 31.1 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
26 leber plus disease 30.9 MT-TS1 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO1
27 leber optic atrophy and dystonia 30.7 MT-ND6 MT-ND4 MT-ND1
28 mitochondrial dna depletion syndrome 4a 30.4 MT-TF MT-ND5 MT-ND1 MT-ATP6
29 parkinson disease, mitochondrial 30.4 MT-TP MT-TK
30 encephalopathy 11.4
31 stroke, ischemic 11.0
32 mitochondrial complex iv deficiency, nuclear type 5 10.9
33 mohr-tranebjaerg syndrome 10.9
34 status epilepticus 10.8
35 myoclonus 10.7
36 mitochondrial dna-associated leigh syndrome 10.7 MT-TW MT-TV MT-TL1 MT-TK MT-ND6 MT-ND5
37 lice infestation 10.7 MT-TV MT-TS1 MT-TQ MT-TI MT-TH MT-TF
38 pthirus pubis infestation 10.7 MT-TV MT-TS1 MT-TQ MT-TI MT-TH MT-TF
39 parasitic ectoparasitic infectious disease 10.7 MT-TV MT-TS1 MT-TQ MT-TI MT-TH MT-TE
40 deafness, nonsyndromic sensorineural, mitochondrial 10.6 MT-TS1 MT-TI MT-TH MT-ND4 MT-ND1 MT-CO1
41 deafness, aminoglycoside-induced 10.6 MT-TS1 MT-ND6 MT-ND4 MT-ND1 MT-CO1
42 diphyllobothriasis 10.6 MT-TL1 MT-ND5 MT-ND1 MT-CO1
43 baylisascariasis 10.6 MT-ND5 MT-ND4 MT-ND1 MT-CO1 MT-ATP6
44 thelaziasis 10.6 MT-ND6 MT-ND5 MT-ND1 MT-CO1 MT-ATP6
45 yemenite deaf-blind hypopigmentation syndrome 10.6
46 branchiootic syndrome 1 10.6
47 metabolic acidosis 10.6
48 aphasia 10.6
49 end stage renal disease 10.6
50 seizure disorder 10.6

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



Diseases related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Symptoms & Phenotypes for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Human phenotypes related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

58 31 (show top 50) (show all 102)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
2 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
3 ragged-red muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003200
4 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
5 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
6 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
7 abnormal mitochondria in muscle tissue 58 31 hallmark (90%) Very frequent (99-80%) HP:0008316
8 aphasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002381
9 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
10 stroke-like episode 58 31 hallmark (90%) Very frequent (99-80%) HP:0002401
11 aplasia/hypoplasia of the cerebral white matter 58 31 hallmark (90%) Very frequent (99-80%) HP:0012429
12 widened cerebral subarachnoid space 58 31 hallmark (90%) Very frequent (99-80%) HP:0012766
13 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
14 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
15 gait disturbance 58 31 frequent (33%) Frequent (79-30%) HP:0001288
16 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
17 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
18 vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002013
19 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
20 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
21 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
22 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
23 encephalopathy 58 31 frequent (33%) Frequent (79-30%) HP:0001298
24 increased csf lactate 58 31 frequent (33%) Frequent (79-30%) HP:0002490
25 hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0001269
26 visual loss 58 31 frequent (33%) Frequent (79-30%) HP:0000572
27 focal-onset seizure 58 31 frequent (33%) Frequent (79-30%) HP:0007359
28 short attention span 58 31 frequent (33%) Frequent (79-30%) HP:0000736
29 recurrent paroxysmal headache 58 31 frequent (33%) Frequent (79-30%) HP:0002331
30 fluctuations in consciousness 58 31 frequent (33%) Frequent (79-30%) HP:0007159
31 increased csf protein 58 31 frequent (33%) Frequent (79-30%) HP:0002922
32 impaired visuospatial constructive cognition 58 31 frequent (33%) Frequent (79-30%) HP:0010794
33 basal ganglia calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002135
34 bilateral tonic-clonic seizure 31 frequent (33%) HP:0002069
35 agenesis of corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0001274
36 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
37 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
38 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
39 type ii diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0005978
40 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
41 proteinuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0000093
42 nephropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000112
43 type i diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0100651
44 fever 58 31 occasional (7.5%) Occasional (29-5%) HP:0001945
45 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
46 vitiligo 58 31 occasional (7.5%) Occasional (29-5%) HP:0001045
47 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
48 progressive external ophthalmoplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000590
49 motor delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001270
50 cerebral cortical atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002120

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
diabetes mellitus

Muscle Soft Tissue:
myopathy
ragged-red fibers on muscle biopsy
reduced muscle mass

Cardiovascular Heart:
left ventricular hypertrophy
wolff-parkinson-white syndrome
left ventricular dysfunction
cardiac conduction abnormalities
heart failure

Metabolic Features:
lactic acidosis

Growth Other:
thin

Laboratory Abnormalities:
elevated resting serum lactate, increased with exercise
subsarcolemmal pleomorphic mitochondria on em

Cardiovascular Vascular:
hypertension

Head And Neck Eyes:
ophthalmoplegia
cortical blindness
hemianopsia
bilateral cataracts

Neurologic Central Nervous System:
encephalopathy
hemiparesis
dementia
stroke-like episodes
grand mal seizures
more
Abdomen Gastrointestinal:
episodic vomiting

Head And Neck Ears:
hearing loss, progressive bilateral sensorineural

Clinical features from OMIM®:

540000 (Updated 05-Apr-2021)

Symptoms:

12
  • myalgia

UMLS symptoms related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:


ophthalmoplegia; hemiparesis

Drugs & Therapeutics for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Drugs for Mitochondrial Myopathy, Encephalopathy, 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 Protective Agents Phase 2
6 Antioxidants Phase 2
7 Ubiquinone Phase 2
8
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
9
Dopamine Approved Phase 1 62-31-7, 51-61-6 681
10
Alprazolam Approved, Illicit, Investigational Phase 1 28981-97-7 2118
11
Clopidogrel Approved Phase 1 113665-84-2, 120202-66-6 60606
12
Acetaminophen Approved Phase 1 103-90-2 1983
13
Furosemide Approved, Vet_approved Phase 1 54-31-9 3440
14
Memantine Approved, Investigational Phase 1 19982-08-2 4054
15
Oxazepam Approved Phase 1 604-75-1 4616
16
Donepezil Approved Phase 1 120014-06-4 3152
17
Ramipril Approved Phase 1 87333-19-5 5362129
18
Zopiclone Approved Phase 1 43200-80-2 5735
19
Nitric Oxide Approved Phase 1 10102-43-9 145068
20 Dopamine Agents Phase 1
21 Psychotropic Drugs Phase 1
22 Analgesics, Non-Narcotic Phase 1
23 Pharmaceutical Solutions Phase 1
24 Excitatory Amino Acid Antagonists Phase 1
25 Hypnotics and Sedatives Phase 1
26 Neurotransmitter Agents Phase 1
27 Angiotensin-Converting Enzyme Inhibitors Phase 1
28 Antihypertensive Agents Phase 1
29 GABA Modulators Phase 1
30 Purinergic P2Y Receptor Antagonists Phase 1
31 Analgesics Phase 1
32 Cholinergic Agents Phase 1
33 Sodium Potassium Chloride Symporter Inhibitors Phase 1
34
protease inhibitors Phase 1
35 diuretics Phase 1
36 Nootropic Agents Phase 1
37 Cholinesterase Inhibitors Phase 1
38 HIV Protease Inhibitors Phase 1
39 Antipyretics Phase 1
40 Platelet Aggregation Inhibitors Phase 1
41 Anti-Anxiety Agents Phase 1
42 Antiparkinson Agents 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 Nutrients
48 Trace Elements
49 Micronutrients
50 Vitamin B9

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 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
4 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
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 Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Cochrane evidence based reviews: melas syndrome

Genetic Tests for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Anatomical Context for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

MalaCards organs/tissues related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

40
Eye, Brain, Heart, Kidney, Skeletal Muscle, Skin, Bone

Publications for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Articles related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

(show top 50) (show all 927)
# Title Authors PMID Year
1
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 6 57 25 61
11781695 2001
2
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. 57 25 6 61
11171912 2001
3
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 57 6 61 25
1932147 1991
4
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. 25 61 57 6
2102678 1990
5
Mutations of the mitochondrial ND1 gene as a cause of MELAS. 57 6 25
15466014 2004
6
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 6 57 25
14967777 2004
7
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 6 57 61
10482110 1999
8
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. 6 61 57
1454794 1992
9
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 57 61 6
1323207 1992
10
A specific point mutation in the mitochondrial genome of Caucasians with MELAS. 61 57 6
1684568 1991
11
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). 61 6 57
2268345 1990
12
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 61 6 57
3395302 1988
13
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 6 57
23243073 2013
14
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 57 6
20697048 2010
15
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 57 6
19349610 2009
16
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 6 57
18306232 2008
17
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 6 25 61
9683591 1998
18
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 61 6 25
8818955 1996
19
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. 57 6
7669057 1995
20
A new point mutation at nucleotide pair 3291 of the mitochondrial tRNA(Leu(UUR)) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 61 25 6
7520241 1994
21
A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). 6 25 61
7804130 1994
22
A new point mutation associated with mitochondrial encephalomyopathy. 25 6 61
8111377 1993
23
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. 57 6
8442706 1993
24
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. 6 57
1315123 1992
25
Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). 57 6
1715668 1991
26
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. 6 57
6093682 1984
27
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 6 25
17823937 2007
28
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy. 25 6
17535832 2007
29
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 25 6
17172609 2006
30
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. 57 25
16682545 2006
31
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 6 25
15767514 2005
32
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 6 25
12796552 2003
33
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 25 6
12509858 2003
34
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 6 25
9771776 1998
35
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 25 6
9798744 1998
36
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 25 6
9299505 1997
37
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. 6 25
8829635 1996
38
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 61 6
27296531 2016
39
Mitochondrial DNA m.3242G > A mutation, an under diagnosed cause of hypertrophic cardiomyopathy and renal tubular dysfunction? 6 61
22781753 2012
40
Different effects of novel mtDNA G3242A and G3244A base changes adjacent to a common A3243G mutation in patients with mitochondrial disorders. 61 6
19460299 2009
41
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 61 6
17562939 2007
42
Specific correlation between the wobble modification deficiency in mutant tRNAs and the clinical features of a human mitochondrial disease. 6 61
15870203 2005
43
A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS. 61 6
15320572 2004
44
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 61 6
11708999 2001
45
Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders. 6 61
11335700 2001
46
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 61 6
11096278 2001
47
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 61 6
11085913 2001
48
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
49
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 61 6
10699170 2000
50
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 6 61
10407850 1999

Variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

ClinVar genetic disease variations for Mitochondrial Myopathy, Encephalopathy, 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.5543T>C SNV Pathogenic 689935 rs1603220016 GRCh37: MT:5543-5543
GRCh38: MT:5543-5543
8 MT-TW NC_012920.1(MT-CYB):m.5536_5537insT Insertion Pathogenic 689929 rs1603220010 GRCh37: MT:5536-5537
GRCh38: MT:5536-5537
9 MT-TW NC_012920.1(MT-CYB):m.5538G>A SNV Pathogenic 689930 rs1603220012 GRCh37: MT:5538-5538
GRCh38: MT:5538-5538
10 MT-TW NC_012920.1(MT-CYB):m.5540G>A SNV Pathogenic 689933 rs1603220014 GRCh37: MT:5540-5540
GRCh38: MT:5540-5540
11 MT-TS1 m.7512T>C SNV Pathogenic 9562 rs199474817 GRCh37: MT:7512-7512
GRCh38: MT:7512-7512
12 MT-TK NC_012920.1(MT-CYB):m.8362T>G SNV Pathogenic 690084 rs1603221423 GRCh37: MT:8362-8362
GRCh38: MT:8362-8362
13 MT-TE NC_012920.1(MT-CYB):m.14739G>A SNV Pathogenic 690211 rs1603224850 GRCh37: MT:14739-14739
GRCh38: MT:14739-14739
14 MT-TT NC_012920.1(MT-CYB):m.15915G>A SNV Pathogenic 690233 rs1603225588 GRCh37: MT:15915-15915
GRCh38: MT:15915-15915
15 MT-ND1 NC_012920.1:m.3380G>A SNV Pathogenic 692346 rs1603218926 GRCh37: MT:3380-3380
GRCh38: MT:3380-3380
16 MT-TF m.586G>A SNV Pathogenic 30005 rs387906734 GRCh37: MT:586-586
GRCh38: MT:586-586
17 MT-ND6 m.14453G>A SNV Pathogenic 9692 rs199476107 GRCh37: MT:14453-14453
GRCh38: MT:14453-14453
18 MT-ND4 m.11084A>G SNV Pathogenic 9709 rs199476113 GRCh37: MT:11084-11084
GRCh38: MT:11084-11084
19 MT-ND1 m.3946G>A SNV Pathogenic 9734 rs199476123 GRCh37: MT:3946-3946
GRCh38: MT:3946-3946
20 MT-TP m.15967G>A SNV Pathogenic 9572 rs199474701 GRCh37: MT:15967-15967
GRCh38: MT:15967-15967
21 MT-TF m.583G>A SNV Pathogenic 9573 rs118203885 GRCh37: MT:583-583
GRCh38: MT:583-583
22 MT-TL1 m.3271T>C SNV Pathogenic 9590 rs199474658 GRCh37: MT:3271-3271
GRCh38: MT:3271-3271
23 MT-TQ m.4332G>A SNV Pathogenic 9616 rs199476141 GRCh37: MT:4332-4332
GRCh38: MT:4332-4332
24 MT-ND5 m.13513G>A SNV Pathogenic 9702 rs267606897 GRCh37: MT:13513-13513
GRCh38: MT:13513-13513
25 MT-ND1 m.3697G>A SNV Pathogenic 9733 rs199476122 GRCh37: MT:3697-3697
GRCh38: MT:3697-3697
26 MT-TL1 m.3271T>C SNV Pathogenic 9590 rs199474658 GRCh37: MT:3271-3271
GRCh38: MT:3271-3271
27 MT-TF m.616T>C SNV Pathogenic 9576 rs387906420 GRCh37: MT:616-616
GRCh38: MT:616-616
28 MT-TV m.1606G>A SNV Pathogenic 9548 rs199476143 GRCh37: MT:1606-1606
GRCh38: MT:1606-1606
29 MT-TL1 m.3256C>T SNV Pathogenic 9591 rs199474659 GRCh37: MT:3256-3256
GRCh38: MT:3256-3256
30 MT-TL1 m.3260A>G SNV Pathogenic 9596 rs199474663 GRCh37: MT:3260-3260
GRCh38: MT:3260-3260
31 MT-TL1 NC_012920.1:m.3291T>C SNV Pathogenic 223247 rs869312463 GRCh37: MT:3291-3291
GRCh38: MT:3291-3291
32 MT-TL1 m.3303C>T SNV Pathogenic 9592 rs199474660 GRCh37: MT:3303-3303
GRCh38: MT:3303-3303
33 MT-TW m.5521G>A SNV Pathogenic 9556 rs199474673 GRCh37: MT:5521-5521
GRCh38: MT:5521-5521
34 MT-TN m.5728T>C SNV Pathogenic 9622 rs199476132 GRCh37: MT:5728-5728
GRCh38: MT:5728-5728
35 MT-TS1 , MT-CO1 NC_012920.1:m.7445A>G SNV Pathogenic 9563 rs199474818 GRCh37: MT:7445-7445
GRCh38: MT:7445-7445
36 MT-TS1 m.7497G>A SNV Pathogenic 9569 rs387906419 GRCh37: MT:7497-7497
GRCh38: MT:7497-7497
37 MT-TS1 m.7511T>C SNV Pathogenic 9566 rs199474821 GRCh37: MT:7511-7511
GRCh38: MT:7511-7511
38 MT-TK m.8356T>C SNV Pathogenic 9580 rs118192099 GRCh37: MT:8356-8356
GRCh38: MT:8356-8356
39 MT-TK m.8363G>A SNV Pathogenic 9581 rs118192100 GRCh37: MT:8363-8363
GRCh38: MT:8363-8363
40 MT-TH m.12147G>A SNV Pathogenic 9610 rs121434474 GRCh37: MT:12147-12147
GRCh38: MT:12147-12147
41 MT-TL2 m.12315G>A SNV Pathogenic 9586 rs121434462 GRCh37: MT:12315-12315
GRCh38: MT:12315-12315
42 MT-ND1 NC_012920.1:m.3481G>A SNV Pathogenic 155880 rs587776433 GRCh37: MT:3481-3481
GRCh38: MT:3481-3481
43 MT-TA m.5591G>A SNV Pathogenic 9625 rs121434458 GRCh37: MT:5591-5591
GRCh38: MT:5591-5591
44 MT-ATP6 NC_012920.1:m.8969G>A SNV Pathogenic 191364 rs794726857 GRCh37: MT:8969-8969
GRCh38: MT:8969-8969
45 MT-TS1 NC_012920.1:m.7471dup Duplication Pathogenic 42226 rs111033319 GRCh37: MT:7465-7466
GRCh38: MT:7465-7466
46 MT-TL2 NC_012920.1(MT-CYB):m.12276G>A SNV Pathogenic 690181 rs1603223645 GRCh37: MT:12276-12276
GRCh38: MT:12276-12276
47 MT-TE NC_012920.1(MT-CYB):m.14710G>A SNV Pathogenic 690207 rs1603224840 GRCh37: MT:14710-14710
GRCh38: MT:14710-14710
48 MT-ND5 NC_012920.1:m.13094T>C SNV Pathogenic 693516 rs1603224029 GRCh37: MT:13094-13094
GRCh38: MT:13094-13094
49 MT-TL1 NC_012920.1:m.3243A>G SNV Pathogenic 9589 rs199474657 GRCh37: MT:3243-3243
GRCh38: MT:3243-3243
50 MT-ND5 m.13045A>C SNV Pathogenic 9700 rs267606895 GRCh37: MT:13045-13045
GRCh38: MT:13045-13045

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

72
# Symbol AA change Variation ID SNP ID
1 MT-ND1 p.Met31Thr VAR_004749 rs201212638
2 MT-ND4 p.Thr109Ala VAR_004759 rs199476113
3 MT-ND5 p.Glu145Gly VAR_035425 rs267606894
4 MT-ND5 p.Ala236Thr VAR_035427 rs267606898
5 MT-ND5 p.Met237Leu VAR_035428 rs267606895
6 MT-ND5 p.Asp393Asn VAR_035430 rs267606897
7 MT-ND6 p.Ala74Val VAR_014397 rs199476107

Expression for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

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

Pathways for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Pathways related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to KEGG:

36
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 Oxidative phosphorylation hsa00190

Pathways related to Mitochondrial Myopathy, Encephalopathy, 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-TW MT-TV MT-TS1 MT-TQ MT-TP MT-TN

GO Terms for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Cellular components related to Mitochondrial Myopathy, Encephalopathy, 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 Myopathy, Encephalopathy, 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 Myopathy, Encephalopathy, 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 Myopathy, Encephalopathy, Lactic Acidosis, and...

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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