MELAS
MCID: MTC114
MIFTS: 61

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 56 12
Melas Syndrome 56 12 36 43 15 71
Melas 56 74 24 58 73
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 73
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

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:

56
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:
Clinical modifier death in early adulthood
Onset and clinical course variable expressivity
Inheritance mitochondrial inheritance


GeneReviews:

24
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


External Ids:

Disease Ontology 12 DOID:3687
OMIM 56 540000
KEGG 36 H01347
MeSH 43 D017241
NCIt 49 C84885
SNOMED-CT 67 39925003
ICD10 32 E88.41
MESH via Orphanet 44 D017241
ICD10 via Orphanet 33 G71.3
UMLS via Orphanet 72 C0162671
Orphanet 58 ORPHA550
MedGen 41 C0162671
UMLS 71 C0162671

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

OMIM : 56 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)

MalaCards based summary : Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial myopathy and lactic acidosis, and has symptoms including myalgia, ophthalmoplegia and hemiparesis. An important gene associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes is MT-ND5 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and thyroid, and related phenotypes are muscle weakness and developmental regression

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 : 73 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 : 74 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 330)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 33.2 MT-TW MT-TT MT-TS1 MT-TL2 MT-TL1 MT-TK
2 lactic acidosis 33.2 MT-TW MT-TV MT-TT MT-TS1 MT-TL2 MT-TL1
3 mitochondrial complex i deficiency, nuclear type 1 32.9 MT-ND6 MT-ND4 MT-ND1 MT-ATP6
4 mitochondrial encephalomyopathy 32.5 MT-TW MT-TS1 MT-TL2 MT-TL1 MT-TK MT-ND6
5 mitochondrial disorders 32.5 MT-TL2 MT-TL1 MT-TK MT-TE MT-ND6 MT-ND5
6 mitochondrial metabolism disease 32.3 MT-TW MT-TL2 MT-TL1 MT-TK MT-TE MT-ND6
7 diabetes and deafness, maternally inherited 32.1 MT-TL1 MT-TK MT-TE
8 leigh syndrome 32.0 MT-TW MT-TV MT-TS1 MT-TL1 MT-TK MT-TI
9 cortical blindness 32.0 MT-ND6 MT-ND5 MT-ND4 MT-ND1
10 chronic progressive external ophthalmoplegia 31.8 MT-TL2 MT-TL1 MT-TK MT-TI MT-TA MT-ND6
11 early myoclonic encephalopathy 31.8 MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ATP6
12 kearns-sayre syndrome 31.8 MT-TL2 MT-TL1 MT-TK MT-TI MT-ND6 MT-ND5
13 3-methylglutaconic aciduria, type iii 31.7 MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
14 myoclonic epilepsy associated with ragged-red fibers 31.7 MT-TS1 MT-TQ MT-TP MT-TL1 MT-TK MT-TI
15 neuropathy 31.7 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
16 optic nerve disease 31.6 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
17 hereditary optic neuropathy 31.6 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
18 leber optic atrophy 31.5 MT-TS1 MT-TL2 MT-TL1 MT-TK MT-TF MT-TE
19 peripheral nervous system disease 31.5 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
20 retinitis pigmentosa 31.1 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ND1
21 epilepsy 31.1 MT-TL1 MT-TK MT-TF MT-ND5 MT-ND4
22 wolff-parkinson-white syndrome 31.0 MT-TL1 MT-ND5 MT-ND4
23 leber optic atrophy and dystonia 31.0 MT-ND6 MT-ND4 MT-ND1
24 muscular disease 30.7 MT-TQ MT-TP MT-TL1 MT-TK MT-ND6 MT-ND4
25 parkinson disease, mitochondrial 30.7 MT-TT MT-TP MT-TK
26 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 12.3
27 myopathy 11.3
28 encephalopathy 11.3
29 leigh syndrome, french canadian type 11.2
30 mohr-tranebjaerg syndrome 11.2
31 cranial nerve disease 10.8 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
32 pearson marrow-pancreas syndrome 10.8 MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ATP6
33 mitochondrial dna-related progressive external ophthalmoplegia 10.8 MT-TS1 MT-TN MT-TL2 MT-TL1
34 status epilepticus 10.8
35 deafness, nonsyndromic sensorineural, mitochondrial 10.8 MT-TS1 MT-TI MT-TH MT-ND1
36 mitochondrial myopathy, infantile, transient 10.8 MT-TE MT-ND5 MT-ND1 MT-ATP6
37 parasitic ectoparasitic infectious disease 10.8 MT-TV MT-TQ MT-TI MT-TH MT-ND5
38 mitochondrial non-syndromic sensorineural deafness 10.8 MT-TS1 MT-TH MT-ND4
39 pthirus pubis infestation 10.8 MT-TV MT-TQ MT-TI MT-TH
40 retinitis pigmentosa 12 10.8 MT-TV MT-TN MT-TI MT-TH
41 lice infestation 10.8 MT-TV MT-TQ MT-TI MT-TH
42 thelaziasis 10.8 MT-TN MT-TL2 MT-ND6
43 fasciolopsiasis 10.8 MT-TV MT-TE MT-ND1
44 mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy 10.8 MT-TW MT-TL2 MT-TA
45 myasthenic syndrome, congenital, 10 10.7 MT-TT MT-TH MT-TF
46 carbuncle 10.7 MT-TT MT-TH MT-TE
47 optic neuritis 10.7 MT-ND6 MT-ND4 MT-ND1
48 hermaphroditism 10.7 MT-TT MT-TH MT-TF
49 coenurosis 10.7 MT-TQ MT-ND1
50 toxic optic neuropathy 10.7 MT-ND6 MT-ND4

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 132)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001324
2 developmental regression 58 31 hallmark (90%) Very frequent (99-80%) HP:0002376
3 fatigue 58 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 emg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0003457
5 generalized tonic-clonic seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002069
6 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
7 increased serum lactate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002151
8 cerebral ischemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002637
9 lactic acidosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0003128
10 ragged-red muscle fibers 58 31 hallmark (90%) Very frequent (99-80%) HP:0003200
11 abnormality of mitochondrial metabolism 58 31 hallmark (90%) Very frequent (99-80%) HP:0003287
12 mitochondrial myopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003737
13 elevated serum creatine kinase 31 hallmark (90%) HP:0003236
14 nausea and vomiting 58 31 frequent (33%) Frequent (79-30%) HP:0002017
15 clonus 58 31 frequent (33%) Frequent (79-30%) HP:0002169
16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
17 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
18 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
19 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
20 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
21 type ii diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0005978
22 hallucinations 58 31 frequent (33%) Frequent (79-30%) HP:0000738
23 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
24 cerebral cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0002120
25 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
26 reduced consciousness/confusion 58 31 frequent (33%) Frequent (79-30%) HP:0004372
27 abdominal pain 58 31 frequent (33%) Frequent (79-30%) HP:0002027
28 decreased nerve conduction velocity 58 31 frequent (33%) Frequent (79-30%) HP:0000762
29 memory impairment 58 31 frequent (33%) Frequent (79-30%) HP:0002354
30 cachexia 58 31 frequent (33%) Frequent (79-30%) HP:0004326
31 attention deficit hyperactivity disorder 58 31 frequent (33%) Frequent (79-30%) HP:0007018
32 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
33 pancreatitis 58 31 frequent (33%) Frequent (79-30%) HP:0001733
34 anorexia 58 31 frequent (33%) Frequent (79-30%) HP:0002039
35 aplasia/hypoplasia of the cerebellum 58 31 frequent (33%) Frequent (79-30%) HP:0007360
36 hemianopia 58 31 frequent (33%) Frequent (79-30%) HP:0012377
37 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
38 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
39 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
40 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
41 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
42 hypothyroidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000821
43 hypertension 58 31 occasional (7.5%) Occasional (29-5%) HP:0000822
44 muscular hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001252
45 sudden cardiac death 58 31 occasional (7.5%) Occasional (29-5%) HP:0001645
46 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
47 delayed skeletal maturation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002750
48 gingival overgrowth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000212
49 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
50 malabsorption 58 31 occasional (7.5%) Occasional (29-5%) HP:0002024

Symptoms via clinical synopsis from OMIM:

56
Endocrine Features:
diabetes mellitus

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

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
dementia
encephalopathy
hemiparesis
stroke-like episodes
grand mal seizures
more
Growth Other:
thin

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

Cardiovascular Vascular:
hypertension

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

Head And Neck Eyes:
ophthalmoplegia
cortical blindness
hemianopsia
bilateral cataracts

Abdomen Gastrointestinal:
episodic vomiting

Head And Neck Ears:
hearing loss, progressive bilateral sensorineural

Clinical features from OMIM:

540000

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 all 35)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2 Immunologic Factors Phase 4
3
Idebenone Approved, Investigational Phase 2 58186-27-9
4
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
5 Trace Elements Phase 2
6 Micronutrients Phase 2
7 Nutrients Phase 2
8 Ubiquinone Phase 2
9
Arginine Investigational, Nutraceutical Phase 2 74-79-3 6322
10
Nitric Oxide Approved Phase 1 10102-43-9 145068
11 Antioxidants Phase 1
12 Protective Agents Phase 1
13 Neurotransmitter Agents Phase 1
14 Respiratory System Agents Phase 1
15 Anti-Asthmatic Agents Phase 1
16 Autonomic Agents Phase 1
17 Free Radical Scavengers Phase 1
18 Vasodilator Agents Phase 1
19 Bronchodilator Agents Phase 1
20
Nicotinamide Approved, Investigational 98-92-0 936
21
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
22
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
23
N,N-dimethylarginine Experimental 30315-93-6 123831
24 pyruvate
25 Natriuretic Agents
26 Natriuretic Peptide, Brain
27 Vitamins
28 Hypolipidemic Agents
29 Vitamin B Complex
30 Vitamin B3
31 Vitamin B9
32 Folate
33 Lipid Regulating Agents
34 Nicotinic Acids
35 Antimetabolites

Interventional clinical trials:

(show all 24)
# 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 An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease Completed NCT02909400 Phase 2 KH176;placebo
5 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
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 Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care Active, not recruiting NCT01370447 Phase 2 EPI-743
8 A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease Terminated NCT02473445 Phase 2 Cysteamine Bitartrate
9 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
10 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
11 A Phase I, Open-Labeled, Single-Arm, Dose Escalation, Clinical and Pharmacology Study of Dichloroacetate (DCA) in Patients With Recurrent and/or Metastatic Solid Tumours Completed NCT00566410 Phase 1 Dichloroacetate
12 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
13 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
14 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
15 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
16 Arginine Flux and Nitric Oxide Production in Patients With MELAS Syndrome and the Effect of Arginine and Citrulline Supplementation Completed NCT01339494 Early Phase 1
17 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
18 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
19 Biomarkers, Hemodynamic and Echocardiographic Predictors of Ischemic Strokes and Their Influence on the Course and Prognosis Completed NCT03377465
20 Assessment and Prevalence of Gastrointestinal Dysfunction in Children With Mitochondrial Disorders (MD) Completed NCT01137240
21 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
22 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
23 Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations Recruiting NCT01532791
24 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
Heart, Kidney, Thyroid, Brain, Skeletal Muscle, Skin, Eye

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 814)
# Title Authors PMID Year
1
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 61 24 56 6
11781695 2001
2
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. 61 24 56 6
11171912 2001
3
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 61 24 56 6
1932147 1991
4
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. 61 24 56 6
2102678 1990
5
Mutations of the mitochondrial ND1 gene as a cause of MELAS. 24 56 6
15466014 2004
6
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 61 56 6
10482110 1999
7
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. 61 56 6
1454794 1992
8
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. 61 56 6
1323207 1992
9
A specific point mutation in the mitochondrial genome of Caucasians with MELAS. 61 56 6
1684568 1991
10
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). 61 56 6
2268345 1990
11
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 61 56 6
3395302 1988
12
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 56 6
23243073 2013
13
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 56 6
20697048 2010
14
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 56 6
19349610 2009
15
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 56 6
18306232 2008
16
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 61 24 6
9683591 1998
17
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 61 24 6
8818955 1996
18
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. 56 6
8442706 1993
19
The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. 56 6
1315123 1992
20
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). 56 6
1715668 1991
21
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. 56 6
6093682 1984
22
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 24 6
17823937 2007
23
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 24 6
17172609 2006
24
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. 24 56
16682545 2006
25
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 24 6
15767514 2005
26
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 24 56
14967777 2004
27
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 24 6
12796552 2003
28
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 24 6
12509858 2003
29
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 24 6
9771776 1998
30
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 24 6
9798744 1998
31
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 24 6
9299505 1997
32
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. 24 6
8829635 1996
33
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 61 6
27296531 2016
34
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 61 6
17562939 2007
35
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 61 6
11708999 2001
36
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 61 6
11096278 2001
37
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 61 6
11085913 2001
38
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
39
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 61 6
10699170 2000
40
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 61 6
10407850 1999
41
Infantile encephalopathy associated with the MELAS A3243G mutation. 61 6
10356136 1999
42
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. 61 6
9243242 1997
43
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
44
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. 61 6
7554321 1995
45
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. 61 6
7931425 1994
46
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. 61 6
8151636 1994
47
Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. 61 6
8280119 1993
48
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. 61 56
1549215 1992
49
MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. 61 56
3362373 1988
50
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. 61 24
28973171 2017

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 570) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-ND1 NC_012920.1:m.3481G>ASNV Pathogenic 155880 rs587776433 MT:3481-3481 MT:3481-3481
2 MT-ATP6 NC_012920.1:m.8969G>ASNV Pathogenic 191364 rs794726857 MT:8969-8969 MT:8969-8969
3 MT-TL1 NC_012920.1:m.3291T>CSNV Pathogenic 223247 rs869312463 MT:3291-3291 MT:3291-3291
4 MT-TV m.1606G>ASNV Pathogenic 9548 rs199476143 MT:1606-1606 MT:1606-1606
5 MT-TW m.5521G>ASNV Pathogenic 9556 rs199474673 MT:5521-5521 MT:5521-5521
6 MT-TS1 m.7512T>CSNV Pathogenic 9562 rs199474817 MT:7512-7512 MT:7512-7512
7 MT-TS1 NC_012920.1:m.7445A>GSNV Pathogenic 9563 rs199474818 MT:7445-7445 MT:7445-7445
8 MT-TS1 m.7511T>CSNV Pathogenic 9566 rs199474821 MT:7511-7511 MT:7511-7511
9 MT-TS1 m.7497G>ASNV Pathogenic 9569 rs387906419 MT:7497-7497 MT:7497-7497
10 MT-TP m.15967G>ASNV Pathogenic 9572 rs199474701 MT:15967-15967 MT:15967-15967
11 MT-TF m.583G>ASNV Pathogenic 9573 rs118203885 MT:583-583 MT:583-583
12 MT-TF m.616T>CSNV Pathogenic 9576 rs387906420 MT:616-616 MT:616-616
13 MT-TK m.8344A>GSNV Pathogenic 9579 rs118192098 MT:8344-8344 MT:8344-8344
14 MT-TK m.8356T>CSNV Pathogenic 9580 rs118192099 MT:8356-8356 MT:8356-8356
15 MT-TK m.8363G>ASNV Pathogenic 9581 rs118192100 MT:8363-8363 MT:8363-8363
16 MT-TL1 NC_012920.1:m.3243A>GSNV Pathogenic 9589 rs199474657 MT:3243-3243 MT:3243-3243
17 MT-TL1 m.3271T>CSNV Pathogenic 9590 rs199474658 MT:3271-3271 MT:3271-3271
18 MT-TL1 m.3256C>TSNV Pathogenic 9591 rs199474659 MT:3256-3256 MT:3256-3256
19 MT-TL1 m.3303C>TSNV Pathogenic 9592 rs199474660 MT:3303-3303 MT:3303-3303
20 MT-TL2 m.12315G>ASNV Pathogenic 9586 rs121434462 MT:12315-12315 MT:12315-12315
21 MT-TL1 m.3251A>GSNV Pathogenic 9595 rs199474662 MT:3251-3251 MT:3251-3251
22 MT-TL1 m.3260A>GSNV Pathogenic 9596 rs199474663 MT:3260-3260 MT:3260-3260
23 MT-TL1 m.3274A>GSNV Pathogenic 9598 rs199474666 MT:3274-3274 MT:3274-3274
24 MT-TH m.12147G>ASNV Pathogenic 9610 rs121434474 MT:12147-12147 MT:12147-12147
25 MT-TQ m.4332G>ASNV Pathogenic 9616 rs199476141 MT:4332-4332 MT:4332-4332
26 MT-ND5 m.12770A>GSNV Pathogenic 9699 rs267606894 MT:12770-12770 MT:12770-12770
27 MT-ND5 m.13045A>CSNV Pathogenic 9700 rs267606895 MT:13045-13045 MT:13045-13045
28 MT-ND5 m.13084A>TSNV Pathogenic 9701 rs267606896 MT:13084-13084 MT:13084-13084
29 MT-ND5 m.13513G>ASNV Pathogenic 9702 rs267606897 MT:13513-13513 MT:13513-13513
30 MT-ND5 m.13042G>ASNV Pathogenic 9703 rs267606898 MT:13042-13042 MT:13042-13042
31 MT-ND1 m.3697G>ASNV Pathogenic 9733 rs199476122 MT:3697-3697 MT:3697-3697
32 MT-ND1 m.3946G>ASNV Pathogenic 9734 rs199476123 MT:3946-3946 MT:3946-3946
33 MT-ND1 m.3949T>CSNV Pathogenic 9735 rs199476124 MT:3949-3949 MT:3949-3949
34 MT-TN m.5728T>CSNV Pathogenic 9622 rs199476132 MT:5728-5728 MT:5728-5728
35 MT-TA m.5591G>ASNV Pathogenic 9625 rs121434458 MT:5591-5591 MT:5591-5591
36 MT-TF m.586G>ASNV Pathogenic 30005 rs387906734 MT:586-586 MT:586-586
37 MT-TS1 m.7471_7472insCduplication Pathogenic 42226 rs111033319 MT:7465-7466 MT:7465-7466
38 MT-TL2 NC_012920.1(MT-CYB):m.12276G>ASNV Pathogenic 690181 MT:12276-12276 MT:12276-12276
39 MT-TE NC_012920.1(MT-CYB):m.14710G>ASNV Pathogenic 690207 MT:14710-14710 MT:14710-14710
40 MT-TE NC_012920.1(MT-CYB):m.14739G>ASNV Pathogenic 690211 MT:14739-14739 MT:14739-14739
41 MT-TT NC_012920.1(MT-CYB):m.15915G>ASNV Pathogenic 690233 MT:15915-15915 MT:15915-15915
42 MT-TV NC_012920.1(MT-CYB):m.1644G>ASNV Pathogenic 689846 MT:1644-1644 MT:1644-1644
43 MT-TL1 NC_012920.1(MT-CYB):m.3243A>TSNV Pathogenic 689856 MT:3243-3243 MT:3243-3243
44 MT-TL1 NC_012920.1(MT-CYB):m.3255G>ASNV Pathogenic 689861 MT:3255-3255 MT:3255-3255
45 MT-TL1 NC_012920.1(MT-CYB):m.3302A>GSNV Pathogenic 689871 MT:3302-3302 MT:3302-3302
46 MT-TI NC_012920.1(MT-CYB):m.4298G>ASNV Pathogenic 689874 MT:4298-4298 MT:4298-4298
47 MT-TW NC_012920.1(MT-CYB):m.5536_5537insTinsertion Pathogenic 689929 MT:5536-5537 MT:5536-5537
48 MT-TW NC_012920.1(MT-CYB):m.5538G>ASNV Pathogenic 689930 MT:5538-5538 MT:5538-5538
49 MT-TW NC_012920.1(MT-CYB):m.5540G>ASNV Pathogenic 689933 MT:5540-5540 MT:5540-5540
50 MT-TW NC_012920.1(MT-CYB):m.5543T>CSNV Pathogenic 689935 MT:5543-5543 MT:5543-5543

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

73
# 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
11.77 MT-ND6 MT-ND5 MT-ND4 MT-ND1
2
Show member pathways
11.74 MT-TW MT-TV MT-TT MT-TS1 MT-TQ MT-TP

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 inner membrane GO:0005743 9.55 MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
2 mitochondrial membrane GO:0031966 9.43 MT-ND6 MT-ND4 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 9.13 MT-ND5 MT-ND4 MT-ND1
4 respiratory chain GO:0070469 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

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 aerobic respiration GO:0009060 9.26 MT-ND4 MT-ND1
2 mitochondrial respiratory chain complex I assembly GO:0032981 9.26 MT-ND6 MT-ND5 MT-ND4 MT-ND1
3 ATP synthesis coupled electron transport GO:0042773 9.16 MT-ND5 MT-ND4
4 mitochondrial electron transport, NADH to ubiquinone GO:0006120 8.92 MT-ND6 MT-ND5 MT-ND4 MT-ND1

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
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9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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