MCID: MTC114
MIFTS: 55

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

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases, Muscle 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 53 12 24 37
Melas Syndrome 53 12 49 24 36 41 14 69
Melas 53 72 23 49 24 55 71
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 23 24
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 71
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 55
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 24
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 55
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 49
Mitochondrial Encephalomyopathy, Lactic Acidosis,stroke-Like Episodes 23
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 24

Characteristics:

Orphanet epidemiological data:

55
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:

53
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:
Mortality/Aging death in early adulthood
Onset and clinical course variable expressivity
Inheritance mitochondrial inheritance


GeneReviews:

23
Penetrance In mtdna-related disorders, penetrance typically depends on mutational load and tissue distribution, which show random variation within families (see genotype-phenotype correlations)...

Classifications:



External Ids:

OMIM 53 540000
Disease Ontology 12 DOID:3687
ICD10 32 E88.41
MeSH 41 D017241
NCIt 46 C84885
SNOMED-CT 64 240097009 39925003
Orphanet 55 ORPHA550
MESH via Orphanet 42 D017241
UMLS via Orphanet 70 C0162671
ICD10 via Orphanet 33 G71.3
MedGen 39 C0162671
KEGG 36 H01347
UMLS 69 C0162671

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

NIH Rare Diseases : 49 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) affects many parts of the body, particularly the brain and nervous system (encephalo-) and muscles (myopathy). Symptoms typically begin in childhood and may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. People with MELAS can also have a buildup of lactic acid in their bodies that can lead to vomiting, abdominal pain, fatigue, muscle weakness, and difficulty breathing. The genes associated with MELAS are located in mitochondrial DNA and therefore follow a maternal inheritance pattern (also called mitochondrial inheritance). MELAS can be inherited from the mother only, because only females pass mitochondrial DNA to their children. In some cases, MELAS results from a new mutation that was not inherited from a person's mother. Last updated: 12/3/2013

MalaCards based summary : Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial complex i deficiency and mitochondrial encephalomyopathy, and has symptoms including ataxia, constipation and fatigue. 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 Melatonin and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin.

Genetics Home Reference : 24 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).

OMIM : 53 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)

UniProtKB/Swiss-Prot : 71 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 : 72 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 58)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency 31.8 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 mitochondrial encephalomyopathy 31.5 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5
3 lactic acidosis 31.4 GTPBP3 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
4 mitochondrial myopathy 31.2 MT-CO2 MT-CO3 MT-ND4 MT-ND5 MT-TL1 MT-TS1
5 myopathy 11.0
6 encephalopathy 11.0
7 mohr-tranebjaerg syndrome 10.9
8 parkinson disease 6, autosomal recessive early-onset 10.6 MT-ND5 MT-ND6
9 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.6 MAPT RPS27A
10 maternally-inherited progressive external ophthalmoplegia 10.6 MT-TL1 MT-TS1
11 semantic dementia 10.6 MAPT RPS27A
12 genetic recurrent myoglobinuria 10.5 MT-CO1 MT-CO3
13 diabetes and deafness, maternally inherited 10.5 MT-TK MT-TL1
14 hereditary hearing loss and deafness 10.5 MT-CO1 MT-TS1
15 myiasis 10.5 MT-CO1 MT-ND5
16 leukoencephalopathy, hereditary diffuse, with spheroids 10.5 MAPT RPS27A
17 neuronal intranuclear inclusion disease 10.5 MAPT RPS27A
18 deafness, aminoglycoside-induced 10.5 MT-CO1 MT-ND4 MT-TS1
19 coenurosis 10.5 MT-CO1 MT-ND1
20 cercarial dermatitis 10.5 MT-CO1 MT-ND4 MT-TW
21 cortical blindness 10.5 MT-ND4 MT-ND6 POLG
22 optic nerve disease 10.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6
23 pearson marrow-pancreas syndrome 10.4 MT-CO2 MT-TK
24 sparganosis 10.4 MT-CO1 MT-ND3 MT-ND4
25 mitochondrial non-syndromic sensorineural deafness 10.4 MT-CO1 MT-TH MT-TS1
26 mitochondrial dna depletion syndrome 1 10.4 MT-TK POLG
27 peripheral nervous system disease 10.4 MT-ND4 MT-ND6 POLG
28 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.4
29 diabetes mellitus 10.4
30 status epilepticus 10.4
31 mitochondrial neurogastrointestinal encephalomyopathy 10.4 MT-TK POLG
32 taeniasis 10.4 MT-CO1 MT-ND1
33 leber optic atrophy and dystonia 10.4 MT-ND1 MT-ND3 MT-ND4 MT-ND6
34 3-methylglutaconic aciduria, type v 10.4 MT-ND4 MT-TK POLG
35 cystic echinococcosis 10.3 MT-CO1 MT-ND1
36 myasthenic syndrome, congenital, 10 10.3 MT-CO1 MT-TH
37 deafness, nonsyndromic sensorineural, mitochondrial 10.3 MT-CO1 MT-ND1 MT-TH MT-TS1
38 parkinson disease, late-onset 10.3 MAPT MT-ND1 MT-ND5 RPS27A
39 encephalomyopathy 10.3 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
40 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
41 meningoencephalitis 10.3
42 hypothyroidism 10.3
43 intestinal pseudo-obstruction 10.3
44 growth hormone deficiency 10.3
45 cranial nerve disease 10.2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 POLG
46 neuropathy 10.2 MT-ND1 MT-ND4 MT-ND5 MT-ND6 POLG
47 mitochondrial complex iv deficiency 10.2 MT-CO1 MT-CO2 MT-CO3 MT-TL1 MT-TS1
48 diphyllobothriasis 10.2 MT-CO1 MT-ND3 MT-ND5 MT-TL1 MT-TS2
49 leber optic atrophy 10.1 MT-CO3 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
50 neonatal period electroclinical syndrome 10.1 MT-TK POLG

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...

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
ophthalmoplegia
hemianopsia
cortical blindness
bilateral cataracts

Endocrine Features:
diabetes mellitus

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

Metabolic Features:
lactic acidosis

Growth Other:
thin

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

Neurologic Central Nervous System:
hemiparesis
dementia
encephalopathy
stroke-like episodes
grand mal seizures
more
Cardiovascular Vascular:
hypertension

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

Abdomen Gastroin testinal:
episodic vomiting

Head And Neck Ears:
hearing loss, progressive bilateral sensorineural


Clinical features from OMIM:

540000

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

55 31 (show top 50) (show all 133)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 55 31 frequent (33%) Frequent (79-30%) HP:0001251
2 constipation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002019
3 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
4 myalgia 55 31 occasional (7.5%) Occasional (29-5%) HP:0003326
5 cachexia 55 31 frequent (33%) Frequent (79-30%) HP:0004326
6 fever 55 31 occasional (7.5%) Occasional (29-5%) HP:0001945
7 reduced consciousness/confusion 55 31 frequent (33%) Frequent (79-30%) HP:0004372
8 tremor 55 31 occasional (7.5%) Occasional (29-5%) HP:0001337
9 abdominal pain 55 31 frequent (33%) Frequent (79-30%) HP:0002027
10 nausea and vomiting 55 31 frequent (33%) Frequent (79-30%) HP:0002017
11 muscle weakness 55 31 hallmark (90%) Very frequent (99-80%) HP:0001324
12 dystonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001332
13 amaurosis fugax 55 31 occasional (7.5%) Occasional (29-5%) HP:0100576
14 clonus 55 31 frequent (33%) Frequent (79-30%) HP:0002169
15 ophthalmoparesis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000597
16 hypertelorism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000316
17 ptosis 55 31 frequent (33%) Frequent (79-30%) HP:0000508
18 hypothyroidism 55 31 occasional (7.5%) Occasional (29-5%) HP:0000821
19 hypertension 55 31 occasional (7.5%) Occasional (29-5%) HP:0000822
20 muscular hypotonia 55 31 occasional (7.5%) Occasional (29-5%) HP:0001252
21 dysarthria 55 31 occasional (7.5%) Occasional (29-5%) HP:0001260
22 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
23 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
24 eeg abnormality 55 31 occasional (7.5%) Occasional (29-5%) HP:0002353
25 developmental regression 55 31 hallmark (90%) Very frequent (99-80%) HP:0002376
26 cerebral calcification 55 31 frequent (33%) Frequent (79-30%) HP:0002514
27 gingival overgrowth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000212
28 cataract 55 31 occasional (7.5%) Occasional (29-5%) HP:0000518
29 hallucinations 55 31 frequent (33%) Frequent (79-30%) HP:0000738
30 delayed skeletal maturation 55 31 occasional (7.5%) Occasional (29-5%) HP:0002750
31 type ii diabetes mellitus 55 31 frequent (33%) Frequent (79-30%) HP:0005978
32 carious teeth 55 31 occasional (7.5%) Occasional (29-5%) HP:0000670
33 malabsorption 55 31 occasional (7.5%) Occasional (29-5%) HP:0002024
34 microcephaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0000252
35 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
36 visual impairment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000505
37 optic atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0000648
38 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
39 abnormality of retinal pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0007703
40 ichthyosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0008064
41 abnormality of visual evoked potentials 55 31 occasional (7.5%) Occasional (29-5%) HP:0000649
42 feeding difficulties in infancy 55 31 occasional (7.5%) Occasional (29-5%) HP:0008872
43 renal insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0000083
44 proteinuria 55 31 occasional (7.5%) Occasional (29-5%) HP:0000093
45 delayed puberty 55 31 occasional (7.5%) Occasional (29-5%) HP:0000823
46 type i diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0100651
47 hypertrophic cardiomyopathy 55 31 occasional (7.5%) Occasional (29-5%) HP:0001639
48 elevated serum creatine phosphokinase 55 31 hallmark (90%) Very frequent (99-80%) HP:0003236
49 emg abnormality 55 31 hallmark (90%) Very frequent (99-80%) HP:0003457
50 skeletal muscle atrophy 55 31 occasional (7.5%) Occasional (29-5%) HP:0003202

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 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Melatonin Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3 73-31-4 896
2 Vaccines Phase 4
3 Antioxidants Phase 4,Phase 2,Phase 3,Early Phase 1
4 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
5 Protective Agents Phase 4,Phase 2,Phase 3,Early Phase 1
6
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
7 Micronutrients Phase 2, Phase 3
8 Trace Elements Phase 2, Phase 3
9 Vitamin B Complex Phase 2, Phase 3
10 Vitamins Phase 2, Phase 3
11 Folate Nutraceutical Phase 2, Phase 3
12 Inositol Nutraceutical Phase 2, Phase 3
13 Vitamin B9 Nutraceutical Phase 2, Phase 3
14
Idebenone Approved, Investigational Phase 2 58186-27-9
15 Ubiquinone Phase 2
16 arginine Nutraceutical Phase 2,Early Phase 1
17
Acetaminophen Approved Phase 1 103-90-2 1983
18
Alprazolam Approved, Illicit, Investigational Phase 1 28981-97-7 2118
19
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
20
Donepezil Approved Phase 1 120014-06-4 3152
21
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
22
Furosemide Approved, Vet_approved Phase 1 54-31-9 3440
23
Memantine Approved, Investigational Phase 1 19982-08-2 4054
24
Oxazepam Approved Phase 1 604-75-1 4616
25
Ramipril Approved Phase 1 87333-19-5 5362129
26
Ticlopidine Approved Phase 1 55142-85-3 5472
27
Zopiclone Approved Phase 1 43200-80-2 5735
28
Pembrolizumab Approved Phase 1 1374853-91-4
29 Antihypertensive Agents Phase 1,Not Applicable
30 Neurotransmitter Agents Phase 1,Not Applicable,Early Phase 1
31 Analgesics Phase 1
32 Analgesics, Non-Narcotic Phase 1
33 Angiotensin-Converting Enzyme Inhibitors Phase 1
34 Anti-Anxiety Agents Phase 1
35 Antiparkinson Agents Phase 1
36 Antipyretics Phase 1
37 Cholinergic Agents Phase 1
38 Cholinesterase Inhibitors Phase 1
39 Cytochrome P-450 Enzyme Inhibitors Phase 1
40 diuretics Phase 1
41 Dopamine Agents Phase 1
42 Excitatory Amino Acid Antagonists Phase 1
43 Excitatory Amino Acids Phase 1
44 Fibrinolytic Agents Phase 1
45 GABA Agents Phase 1
46 GABA Modulators Phase 1
47 HIV Protease Inhibitors Phase 1
48 Hypnotics and Sedatives Phase 1
49 Natriuretic Agents Phase 1
50 Nootropic Agents Phase 1

Interventional clinical trials:

(show all 22)

# Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 Oral Melatonin in Critically Ill High-risk Patients Completed NCT00470821 Phase 4 Oral melatonin 3mg BID;Placebo
3 Myo-inositol and Melatonin in Pre-menopausal Women Completed NCT01115127 Phase 2, Phase 3
4 Evaluation of Pigmented Skin Lesions With MelaFind(R) System Completed NCT00434057 Phase 3
5 Evaluating the Effectiveness of a Dichloroacetate in MELAS Syndrome Unknown status NCT00068913 Phase 2 Dichloroacetate
6 L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome Completed NCT01603446 Phase 2 L-Arginine
7 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
8 MELA Study - Hedonic Study on the Taste of Drugs Crushed in Food: Observational Study Involving 16 Healthy Volunteers Completed NCT02570581 Phase 1
9 X4P-001 and Pembrolizumab in Patients With Advanced Melanoma Recruiting NCT02823405 Phase 1 X4P-001;Pembrolizumab
10 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers Recruiting NCT03056209 Phase 1 KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
11 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
12 Propranolol Treatment of Traumatic Memories (PTTM) Unknown status NCT01069159 Not Applicable Propranolol Hydrochloride;Placebo
13 Nitric Oxide Production in MELAS Syndrome Completed NCT01339494 Early Phase 1
14 Ketones & Mitochondrial Heteroplasmy Completed NCT01252979 Early Phase 1
15 Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia Completed NCT00004353 Not Applicable
16 Does the Aid of MelaFind Affect Clinical Management Decisions Completed NCT01387581
17 MelaFind Evaluations for Patients With Multiple Nevi Completed NCT01700101
18 Survey Study - Sensitivity Comparison Between MelaFind and Physician Group Completed NCT01011153
19 Mitochondrial and Microbiota Relationship Recruiting NCT03213067
20 Nicotinamide Riboside and Mitochondrial Biogenesis Recruiting NCT03432871 Not Applicable
21 Post-Approval Study of MelaFind Terminated NCT01700114
22 Impact of Obstructive SAS on Metastatic Potential of Cutaneous Melanoma Withdrawn NCT02699918 Early Phase 1

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:

38
Brain, Heart, Skin, Eye, Skeletal Muscle, Thyroid, Cerebellum

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 163)
# Title Authors Year
1
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy. ( 28883250 )
2017
2
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
3
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 28637934 )
2017
4
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders. ( 29260009 )
2017
5
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) due to a m.10158T>C ND3 Mutation with a Normal Muscle Biopsy. ( 28883258 )
2017
6
Gastro-intestinal Involvement in m.3243A>G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 29151541 )
2017
7
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 26960270 )
2016
8
Migratory stroke-like lesions in a case of adult-onset mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome and a review of imaging findings. ( 27920873 )
2016
9
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
10
Acute cortical deafness in a child with MELAS syndrome. ( 27056553 )
2016
11
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
12
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
13
In the heart of MELAS syndrome. ( 27061651 )
2016
14
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. ( 26851065 )
2016
15
MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. ( 26712328 )
2016
16
MELAS syndrome due to the m.3291TA >A C mutation. ( 27134825 )
2016
17
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. ( 27683045 )
2016
18
Arrhythmias in MELAS syndrome. ( 27134827 )
2016
19
When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis? ( 26517220 )
2015
20
Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 26112726 )
2015
21
Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome. ( 25766436 )
2015
22
Arrhythmia as a cardiac manifestation in MELAS syndrome. ( 26937404 )
2015
23
Retinal nerve fibre layer defect associated with MELAS syndrome. ( 26455989 )
2015
24
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. ( 26095523 )
2015
25
Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome. ( 25878740 )
2015
26
Advances in the Treatment of MELAS Syndrome: Could Cognitive Rehabilitation Have a Role? ( 26391741 )
2015
27
MELAS syndrome presenting as an acute surgical abdomen. ( 24417855 )
2014
28
The ROS-sensitive microRNA-9/9* controls the expression of mitochondrial tRNA-modifying enzymes and is involved in the molecular mechanism of MELAS syndrome. ( 25149473 )
2014
29
Adrenal insufficiency in a child with MELAS syndrome. ( 24508408 )
2014
30
Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome. ( 24412347 )
2014
31
CT and MRI imaging of the brain in MELAS syndrome. ( 24115962 )
2013
32
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. ( 23324391 )
2013
33
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature. ( 22909780 )
2013
34
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. ( 23493219 )
2013
35
A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome with Intracardiac Thrombus [corrected]. ( 23613701 )
2013
36
MELAS syndrome diagnosed in ICU in a 56-year-old patient presenting with status epilepticus. ( 23536165 )
2013
37
Multimodal Imaging-Monitored Progression of Stroke-Like Episodes in a Case of MELAS Syndrome. ( 23603604 )
2013
38
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate. ( 24082934 )
2013
39
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. ( 25411654 )
2013
40
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. ( 22325939 )
2012
41
Anti-NMDA receptor antibodies in a case of MELAS syndrome. ( 21898136 )
2012
42
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. ( 22747838 )
2012
43
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome. ( 22353239 )
2012
44
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report. ( 20036095 )
2012
45
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. ( 22328278 )
2012
46
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). ( 23079769 )
2012
47
Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients. ( 21228936 )
2011
48
Mutations in mitochondrially encoded complex I enzyme as the second common cause in a cohort of Chinese patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. ( 21850008 )
2011
49
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria. ( 21724600 )
2011
50
Neuraxial anaesthesia in MELAS syndrome. ( 22165378 )
2011

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

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

71
# Symbol AA change Variation ID SNP ID
1 MT-CO3 p.Phe251Leu VAR_002169
2 MT-ND1 p.Met31Thr VAR_004749 rs201212638
3 MT-ND4 p.Thr109Ala VAR_004759 rs199476113
4 MT-ND5 p.Glu145Gly VAR_035425 rs267606894
5 MT-ND5 p.Asp393Asn VAR_035430 rs267606897
6 MT-ND6 p.Ala74Val VAR_014397 rs199476107

ClinVar genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

6 (show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 MT-TF m.583G> A single nucleotide variant Pathogenic rs118203885 GRCh37 Chromosome MT, 583: 583
2 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
3 MT-TL1 m.3271T> C single nucleotide variant Pathogenic rs199474658 GRCh37 Chromosome MT, 3271: 3271
4 MT-TQ m.4332G> A single nucleotide variant Pathogenic rs199476141 GRCh37 Chromosome MT, 4332: 4332
5 MT-ND6 m.14453G> A single nucleotide variant Pathogenic rs199476107 GRCh37 Chromosome MT, 14453: 14453
6 MT-ND5 m.12770A> G single nucleotide variant Pathogenic rs267606894 GRCh37 Chromosome MT, 12770: 12770
7 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
8 MT-ND5 m.13084A> T single nucleotide variant Pathogenic rs267606896 GRCh37 Chromosome MT, 13084: 13084
9 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
10 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh37 Chromosome MT, 13042: 13042
11 MT-ND4 m.11084A> G single nucleotide variant Pathogenic rs199476113 GRCh37 Chromosome MT, 11084: 11084
12 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh37 Chromosome MT, 3697: 3697
13 MT-ND1 m.3946G> A single nucleotide variant Pathogenic rs199476123 GRCh37 Chromosome MT, 3946: 3946
14 MT-ND1 m.3949T> C single nucleotide variant Pathogenic rs199476124 GRCh37 Chromosome MT, 3949: 3949
15 NDUFS1 NM_001199981.1(NDUFS1): c.650T> G (p.Val217Gly) single nucleotide variant Likely pathogenic rs786205666 GRCh38 Chromosome 2, 206145006: 206145006

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

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 9.67 MT-ND1 MT-ND3 MT-ND4 MT-ND6
2 mitochondrial respiratory chain complex I GO:0005747 9.56 MT-ND1 MT-ND3 MT-ND4 MT-ND5
3 mitochondrial inner membrane GO:0005743 9.56 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3 MT-ND4
4 mitochondrial respiratory chain complex IV GO:0005751 9.4 MT-CO1 MT-CO2
5 respiratory chain complex IV GO:0045277 9.33 MT-CO1 MT-CO2 MT-CO3
6 respiratory chain GO:0070469 9.17 MT-CO1 MT-CO2 MT-ND1 MT-ND3 MT-ND4 MT-ND5
7 mitochondrion GO:0005739 10.02 GTPBP3 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3

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 9.87 MT-CO1 MT-CO2 MT-ND1 MT-ND3 MT-ND4 MT-ND5
2 hydrogen ion transmembrane transport GO:1902600 9.54 MT-CO1 MT-CO2 MT-CO3
3 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.43 MT-CO1 MT-CO2 MT-CO3
4 mitochondrial respiratory chain complex I assembly GO:0032981 9.35 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
5 ATP synthesis coupled electron transport GO:0042773 9.33 MT-CO2 MT-ND4 MT-ND5
6 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.02 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6

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 oxidoreductase activity GO:0016491 9.5 MT-CO1 MT-CO2 MT-ND1 MT-ND3 MT-ND4 MT-ND5
2 cytochrome-c oxidase activity GO:0004129 9.33 MT-CO1 MT-CO2 MT-CO3
3 NADH dehydrogenase (ubiquinone) activity GO:0008137 9.02 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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