MELAS
MCID: MTC114
MIFTS: 58

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 37 44 15 72
Melas 57 75 24 59 74
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 74
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 40
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 59
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 59

Characteristics:

Orphanet epidemiological data:

59
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
Miscellaneous:
variable severity
variable age at onset
the mttl1 c.3243a-g transition () is the most common mutation

Inheritance:
mitochondrial


HPO:

32
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:



External Ids:

Disease Ontology 12 DOID:3687
OMIM 57 540000
KEGG 37 H01347
MeSH 44 D017241
NCIt 50 C84885
SNOMED-CT 68 39925003
ICD10 33 E88.41
MESH via Orphanet 45 D017241
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 73 C0162671
Orphanet 59 ORPHA550
MedGen 42 C0162671
UMLS 72 C0162671

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)

MalaCards based summary : Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to diabetes and deafness, maternally inherited 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-ND4 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4), 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 brain, heart and skeletal muscle, 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 : 37
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 : 74 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 : 75 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 326)
# Related Disease Score Top Affiliating Genes
1 diabetes and deafness, maternally inherited 31.9 MT-TL1 MT-TK
2 lactic acidosis 31.5 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-CO3
3 ataxia and polyneuropathy, adult-onset 31.5 MT-ND4 MT-ND3 MT-CO3
4 mitochondrial complex iv deficiency 31.4 MT-TL1 MT-ND4 MT-CO3 MT-CO2 MT-CO1
5 optic nerve disease 31.1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
6 peripheral nervous system disease 31.1 POLG MT-ND6 MT-ND4
7 mitochondrial metabolism disease 30.9 POLG MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND3
8 neuropathy 30.9 POLG MT-ND6 MT-ND5 MT-ND4 MT-ND1
9 mitochondrial myopathy 30.9 POLG MT-TW MT-TS1 MT-TL1 MT-ND6 MT-ND5
10 mitochondrial neurogastrointestinal encephalomyopathy 30.7 POLG MT-TK
11 leber optic atrophy and dystonia 30.5 MT-ND6 MT-ND4 MT-ND3 MT-ND1
12 dystonia 30.5 MT-ND6 MT-ND4 MT-ND3 MT-ND1
13 kearns-sayre syndrome 30.3 POLG MT-TL1 MT-ND6 MT-ND5 MT-ND4 MT-ND1
14 muscular disease 30.1 POLG MT-TQ MT-TL1 MT-ND5
15 mitochondrial encephalomyopathy 30.1 MT-TW MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4
16 leber optic atrophy 29.9 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 MT-CO3
17 retinitis pigmentosa 29.7 MT-TW MT-ND5 MT-ND4 MT-ND3 MT-CO3 MT-CO2
18 myoclonic epilepsy associated with ragged-red fibers 29.5 POLG MT-TS2 MT-TS1 MT-TQ MT-TL1 MT-TK
19 leigh syndrome 29.3 POLG MT-TW MT-TL1 MT-TK MT-ND6 MT-ND5
20 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 12.3
21 myopathy 11.3
22 encephalopathy 11.3
23 leigh syndrome, french canadian type 11.2
24 mitochondrial complex i deficiency, nuclear type 1 11.2
25 mohr-tranebjaerg syndrome 11.2
26 mitochondrial disorders 10.8
27 status epilepticus 10.8
28 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.8 RPS27A MAPT
29 semantic dementia 10.7 RPS27A MAPT
30 myiasis 10.7 MT-ND5 MT-CO1
31 parkinson disease 6, autosomal recessive early-onset 10.7 MT-ND6 MT-ND5
32 genetic recurrent myoglobinuria 10.6 MT-CO3 MT-CO1
33 coenurosis 10.6 MT-ND1 MT-CO1
34 macular degeneration, age-related, 2 10.6
35 3-methylglutaconic aciduria, type i 10.6
36 cyclic vomiting syndrome 10.6
37 branchiootic syndrome 1 10.6
38 aphasia 10.6
39 myoclonus 10.6
40 deafness, aminoglycoside-induced 10.6 MT-TS1 MT-ND4 MT-CO1
41 alzheimer disease mitochondrial 10.6 MT-ND1 MAPT
42 cercarial dermatitis 10.6 MT-TW MT-ND4 MT-CO1
43 migraine with or without aura 1 10.5
44 yemenite deaf-blind hypopigmentation syndrome 10.5
45 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
46 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.5
47 metabolic acidosis 10.5
48 sensorineural hearing loss 10.5
49 cortical blindness 10.5
50 visual epilepsy 10.5

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:

59 32 (show top 50) (show all 134)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
2 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
3 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
4 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
5 generalized tonic-clonic seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0002069
6 migraine 59 32 hallmark (90%) Very frequent (99-80%) HP:0002076
7 increased serum lactate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002151
8 cerebral ischemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002637
9 lactic acidosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0003128
10 ragged-red muscle fibers 59 32 hallmark (90%) Very frequent (99-80%) HP:0003200
11 abnormality of mitochondrial metabolism 59 32 hallmark (90%) Very frequent (99-80%) HP:0003287
12 mitochondrial myopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003737
13 elevated serum creatine kinase 32 hallmark (90%) HP:0003236
14 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
15 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
16 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
17 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
18 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
19 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
20 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
21 hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0000738
22 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
23 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
24 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
25 reduced consciousness/confusion 59 32 frequent (33%) Frequent (79-30%) HP:0004372
26 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
27 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762
28 memory impairment 59 32 frequent (33%) Frequent (79-30%) HP:0002354
29 cachexia 59 32 frequent (33%) Frequent (79-30%) HP:0004326
30 attention deficit hyperactivity disorder 59 32 frequent (33%) Frequent (79-30%) HP:0007018
31 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
32 pancreatitis 59 32 frequent (33%) Frequent (79-30%) HP:0001733
33 anorexia 59 32 frequent (33%) Frequent (79-30%) HP:0002039
34 cerebral cortical atrophy 59 32 frequent (33%) Frequent (79-30%) HP:0002120
35 aplasia/hypoplasia of the cerebellum 59 32 frequent (33%) Frequent (79-30%) HP:0007360
36 hemianopia 32 frequent (33%) HP:0012377
37 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
38 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
39 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
40 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
41 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
42 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
43 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
44 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
45 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
46 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
47 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
48 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
49 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
50 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024

Symptoms via clinical synopsis from OMIM:

57
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:
hemianopsia
ophthalmoplegia
cortical blindness
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 37)
# 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
Cysteamine Approved, Investigational Phase 2 60-23-1 6058
5 arginine Phase 2
6 Ubiquinone Phase 2
7 Micronutrients Phase 2
8 Trace Elements Phase 2
9 Nutrients Phase 2
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 Free Radical Scavengers Phase 1
16 Anti-Asthmatic Agents Phase 1
17 Autonomic Agents Phase 1
18 Endothelium-Dependent Relaxing Factors Phase 1
19 Peripheral Nervous System Agents Phase 1
20 Vasodilator Agents Phase 1
21 Bronchodilator Agents Phase 1
22
Nicotinamide Approved, Investigational 98-92-0 936
23
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
24
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
25
N,N-dimethylarginine Experimental 30315-93-6 123831
26 pyruvate
27 Natriuretic Peptide, Brain
28 Natriuretic Agents
29 Lipid Regulating Agents
30 Vitamins
31 Vitamin B Complex
32 Vitamin B9
33 Folate
34 Vitamin B3
35 Nicotinic Acids
36 Hypolipidemic Agents
37 Antimetabolites

Interventional clinical trials:

(show all 23)
# 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 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
7 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
8 A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176 Completed NCT02544217 Phase 1 KH176;placebo
9 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
10 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
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 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
15 Arginine Flux and Nitric Oxide Production in Patients With MELAS Syndrome and the Effect of Arginine and Citrulline Supplementation Completed NCT01339494 Early Phase 1
16 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353
17 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
18 Biomarkers, Hemodynamic and Echocardiographic Predictors of Ischemic Strokes and Their Influence on the Course and Prognosis Completed NCT03377465
19 Assessment and Prevalence of Gastrointestinal Dysfunction in Children With Mitochondrial Disorders (MD) Completed NCT01137240
20 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
21 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
22 Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations Recruiting NCT01532791
23 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:

41
Brain, Heart, Skeletal Muscle, Skin, Kidney, Thyroid, 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 803)
# Title Authors PMID Year
1
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. 38 4 8 71
11781695 2001
2
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. 38 4 8 71
11171912 2001
3
A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). 38 4 8 71
1932147 1991
4
A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. 38 4 8 71
2102678 1990
5
Mutations of the mitochondrial ND1 gene as a cause of MELAS. 4 8 71
15466014 2004
6
Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. 38 8 71
10482110 1999
7
Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. 38 8 71
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. 38 8 71
1323207 1992
9
A specific point mutation in the mitochondrial genome of Caucasians with MELAS. 38 8 71
1684568 1991
10
A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). 38 8 71
2268345 1990
11
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. 38 8 71
3395302 1988
12
High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. 8 71
23243073 2013
13
Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. 8 71
20697048 2010
14
Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. 8 71
19349610 2009
15
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. 8 71
18306232 2008
16
Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. 38 4 71
9683591 1998
17
Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. 38 4 71
8818955 1996
18
The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. 8 71
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. 8 71
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). 8 71
1715668 1991
21
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. 8 71
6093682 1984
22
Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. 4 71
17823937 2007
23
Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. 4 71
17172609 2006
24
Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. 4 8
16682545 2006
25
Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. 4 71
15767514 2005
26
Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. 4 8
14967777 2004
27
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. 4 71
12796552 2003
28
Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? 4 71
12509858 2003
29
MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. 4 71
9771776 1998
30
MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. 4 71
9798744 1998
31
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. 4 71
9299505 1997
32
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. 4 71
8829635 1996
33
The phenotypic spectrum of fifty Czech m.3243A>G carriers. 38 71
27296531 2016
34
A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. 38 71
17562939 2007
35
Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. 38 71
11708999 2001
36
Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. 38 71
11096278 2001
37
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. 38 71
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. 38 71
10858457 2000
39
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. 38 71
10699170 2000
40
Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. 38 71
10407850 1999
41
Infantile encephalopathy associated with the MELAS A3243G mutation. 38 71
10356136 1999
42
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. 38 71
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. 38 71
8723072 1996
44
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. 38 71
7554321 1995
45
Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. 38 71
7931425 1994
46
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. 38 71
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. 38 71
8280119 1993
48
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. 38 8
1549215 1992
49
MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. 38 8
3362373 1988
50
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. 38 4
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 all 17)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 MT-TF m.583G> A single nucleotide variant Pathogenic rs118203885 MT:583-583 MT:583-583
2 MT-TL1 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 MT:3243-3243 MT:3243-3243
3 MT-TL1 m.3271T> C single nucleotide variant Pathogenic rs199474658 MT:3271-3271 MT:3271-3271
4 MT-TQ m.4332G> A single nucleotide variant Pathogenic rs199476141 MT:4332-4332 MT:4332-4332
5 MT-ND6 m.14453G> A single nucleotide variant Pathogenic rs199476107 MT:14453-14453 MT:14453-14453
6 MT-ND5 m.12770A> G single nucleotide variant Pathogenic rs267606894 MT:12770-12770 MT:12770-12770
7 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 MT:13045-13045 MT:13045-13045
8 MT-ND5 m.13084A> T single nucleotide variant Pathogenic rs267606896 MT:13084-13084 MT:13084-13084
9 MT-ND5 m.13513G> A single nucleotide variant Pathogenic rs267606897 MT:13513-13513 MT:13513-13513
10 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 MT:13042-13042 MT:13042-13042
11 MT-ND4 m.11084A> G single nucleotide variant Pathogenic rs199476113 MT:11084-11084 MT:11084-11084
12 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 MT:3697-3697 MT:3697-3697
13 MT-ND1 m.3946G> A single nucleotide variant Pathogenic rs199476123 MT:3946-3946 MT:3946-3946
14 MT-ND1 m.3949T> C single nucleotide variant Pathogenic rs199476124 MT:3949-3949 MT:3949-3949
15 NDUFS1 NM_005006.7(NDUFS1): c.758T> G (p.Val253Gly) single nucleotide variant Likely pathogenic rs786205666 2:207009730-207009730 2:206145006-206145006
16 MT-CYB NC_012920.1: m.15437G> A single nucleotide variant Uncertain significance rs878853058 MT:15437-15437 MT:15437-15437
17 MT-TC m.5814T> C single nucleotide variant Uncertain significance rs200077222 MT:5814-5814 MT:5814-5814

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

74
# 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:

37
# Name Kegg Source Accession
1 Aminoacyl-tRNA biosynthesis hsa00970
2 Oxidative phosphorylation hsa00190

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 mitochondrion GO:0005739 9.85 POLG MT-ND5 MT-ND4 MT-ND3 MT-ND1 MT-CO3
2 mitochondrial membrane GO:0031966 9.71 MT-ND6 MT-ND4 MT-ND3 MT-ND1
3 mitochondrial respiratory chain complex I GO:0005747 9.62 MT-ND5 MT-ND4 MT-ND3 MT-ND1
4 mitochondrial inner membrane GO:0005743 9.56 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 MT-CO3
5 respiratory chain complex IV GO:0045277 9.43 MT-CO3 MT-CO2 MT-CO1
6 respiratory chain GO:0070469 9.17 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 MT-CO2
7 mitochondrial respiratory chain complex IV GO:0005751 9.07 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 9.91 MT-ND6 MT-ND5 MT-ND4 MT-ND3 MT-ND1 MT-CO2
2 proton transmembrane transport GO:1902600 9.61 MT-CO3 MT-CO2 MT-CO1
3 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.56 MT-ND5 MT-ND4 MT-ND3 MT-ND1
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.5 MT-CO3 MT-CO2 MT-CO1
5 electron transport coupled proton transport GO:0015990 9.4 MT-ND4 MT-CO1
6 ATP synthesis coupled electron transport GO:0042773 9.33 MT-ND5 MT-ND4 MT-CO2
7 aerobic respiration GO:0009060 9.26 MT-ND4 MT-ND1 MT-CO3 MT-CO1
8 mitochondrial respiratory chain complex I assembly GO:0032981 9.02 MT-ND6 MT-ND5 MT-ND4 MT-ND3 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 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO3 MT-CO2 MT-CO1
2 oxidoreductase activity GO:0016491 9.16 MT-CO2 MT-CO1
3 NADH dehydrogenase activity GO:0003954 9.13 MT-ND5 MT-ND4 MT-ND1
4 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 MT-ND6 MT-ND5 MT-ND4 MT-ND3 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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