MCID: MTC114
MIFTS: 61

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 57 12 25 38
Melas Syndrome 57 12 53 25 37 44 15 73
Melas 57 76 24 53 25 59 75
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 24 25
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 75
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 25
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 59
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 53
Mitochondrial Encephalomyopathy, Lactic Acidosis,stroke-Like Episodes 24
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 25

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:
Mortality/Aging 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 genotype-phenotype correlations)...

Classifications:



External Ids:

OMIM 57 540000
Disease Ontology 12 DOID:3687
ICD10 33 E88.41
MeSH 44 D017241
NCIt 50 C84885
SNOMED-CT 68 240097009 39925003
Orphanet 59 ORPHA550
MESH via Orphanet 45 D017241
ICD10 via Orphanet 34 G71.3
UMLS via Orphanet 74 C0162671
MedGen 42 C0162671
KEGG 37 H01347
UMLS 73 C0162671

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

NIH Rare Diseases : 53 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.

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 lactic acidosis, and has symptoms including hemiparesis and ophthalmoplegia. 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 Central Nervous System Depressants have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin, and related phenotypes are hypertelorism and ptosis

Genetics Home Reference : 25 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 : 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)

UniProtKB/Swiss-Prot : 75 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 : 76 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 69)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency 31.7 MT-CO1 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 lactic acidosis 31.4 GTPBP3 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
3 mitochondrial myopathy 30.6 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5
4 myopathy 30.4 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3 MT-ND4
5 encephalopathy 11.0
6 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.0 MAPT RPS27A
7 leigh syndrome, french canadian type 10.9
8 mohr-tranebjaerg syndrome 10.9
9 parkinson disease 6, autosomal recessive early-onset 10.9 MT-ND5 MT-ND6
10 semantic dementia 10.9 MAPT RPS27A
11 genetic recurrent myoglobinuria 10.9 MT-CO1 MT-CO3
12 diabetes and deafness, maternally inherited 10.9 MT-TK MT-TL1
13 myiasis 10.9 MT-CO1 MT-ND5
14 sideroblastic anemia acquired 10.9 MT-CO1 MT-CO2
15 hereditary hearing loss and deafness 10.8 MT-CO1 MT-TS1
16 coenurosis 10.8 MT-CO1 MT-ND1
17 deafness, aminoglycoside-induced 10.8 MT-CO1 MT-ND4 MT-TS1
18 leukoencephalopathy, hereditary diffuse, with spheroids 10.8 MAPT RPS27A
19 cercarial dermatitis 10.8 MT-CO1 MT-ND4 MT-TW
20 encephalomyopathy 10.8 MT-ND1 MT-ND4 MT-ND5 MT-ND6
21 pearson marrow-pancreas syndrome 10.8 MT-CO2 MT-TK
22 myoglobinuria, recurrent 10.8 MT-CO1 MT-CO2
23 optic nerve disease 10.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
24 sparganosis 10.7 MT-CO1 MT-ND3 MT-ND4
25 cortical blindness 10.7 MT-ND4 MT-ND6 POLG
26 striatonigral degeneration, infantile, mitochondrial 10.7 MT-CO3 MT-ND3 MT-ND4
27 mitochondrial non-syndromic sensorineural deafness 10.7 MT-CO1 MT-TH MT-TS1
28 neuronal intranuclear inclusion disease 10.7 MAPT RPS27A
29 myopathy, lactic acidosis, and sideroblastic anemia 3 10.7 MT-CO3 MT-ND3 MT-ND4
30 maternally-inherited progressive external ophthalmoplegia 10.7 MT-TL1 MT-TS1 POLG
31 striatonigral degeneration, infantile 10.7 MT-CO3 MT-ND3 MT-ND4
32 epilepsy, familial temporal lobe, 2 10.7 MT-CO1 MT-CO3
33 peripheral nervous system disease 10.7 MT-ND4 MT-ND6 POLG
34 ataxia and polyneuropathy, adult-onset 10.7 MT-CO3 MT-ND3 MT-ND4
35 mitochondrial neurogastrointestinal encephalomyopathy 10.7 MT-TK POLG
36 leber optic atrophy and dystonia 10.7 MT-ND1 MT-ND3 MT-ND4 MT-ND6
37 taeniasis 10.6 MT-CO1 MT-ND1
38 cardiomyopathy, infantile hypertrophic 10.6 MT-CO2 MT-CO3 MT-ND3
39 3-methylglutaconic aciduria, type v 10.6 MT-ND4 MT-TK POLG
40 cysticercosis 10.5 MT-CO1 MT-ND1
41 diabetes mellitus 10.5
42 mitochondrial metabolism disease 10.5 MT-ND3 MT-ND5 MT-ND6 MT-TK
43 neuropathy 10.5 MT-ND1 MT-ND4 MT-ND6 POLG
44 parkinson disease, late-onset 10.5 MAPT MT-ND1 MT-ND5 RPS27A
45 myopathy, lactic acidosis, and sideroblastic anemia 10.5 MT-CO3 MT-ND3 MT-ND4 MT-TK
46 cranial nerve disease 10.4 MT-ND1 MT-ND4 MT-ND5 MT-ND6 POLG
47 status epilepticus 10.4
48 depression 10.4
49 diphyllobothriasis 10.3 MT-CO1 MT-ND3 MT-ND5 MT-TL1 MT-TS2
50 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3

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:

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
cardiac conduction abnormalities
heart failure
left ventricular dysfunction

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

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

59 32 (show top 50) (show all 132)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
3 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
4 hypothyroidism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000821
5 hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0000822
6 ataxia 59 32 frequent (33%) Frequent (79-30%) HP:0001251
7 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
8 dysarthria 59 32 occasional (7.5%) Occasional (29-5%) HP:0001260
9 muscle weakness 59 32 hallmark (90%) Very frequent (99-80%) HP:0001324
10 tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0001337
11 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
12 nausea and vomiting 59 32 frequent (33%) Frequent (79-30%) HP:0002017
13 constipation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002019
14 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
15 clonus 59 32 frequent (33%) Frequent (79-30%) HP:0002169
16 eeg abnormality 59 32 occasional (7.5%) Occasional (29-5%) HP:0002353
17 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
18 cerebral calcification 59 32 frequent (33%) Frequent (79-30%) HP:0002514
19 gingival overgrowth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000212
20 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
21 hallucinations 59 32 frequent (33%) Frequent (79-30%) HP:0000738
22 delayed skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0002750
23 type ii diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0005978
24 carious teeth 59 32 occasional (7.5%) Occasional (29-5%) HP:0000670
25 malabsorption 59 32 occasional (7.5%) Occasional (29-5%) HP:0002024
26 microcephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000252
27 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
28 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
29 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
30 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
31 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
32 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
33 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
34 reduced consciousness/confusion 59 32 frequent (33%) Frequent (79-30%) HP:0004372
35 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
36 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
37 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
38 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
39 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
40 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
41 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
42 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
43 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
44 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
45 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
46 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
47 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
48 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
49 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
50 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230

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


hemiparesis, ophthalmoplegia

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 71)
# 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 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
3 Vaccines Phase 4
4 Antioxidants Phase 4,Phase 2,Phase 3,Early 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 Vitamin B9 Nutraceutical Phase 2, Phase 3
13
Idebenone Approved, Investigational Phase 2 58186-27-9
14 Ubiquinone Phase 2
15 arginine Nutraceutical Phase 2,Early Phase 1
16
Ticlopidine Approved Phase 1 55142-85-3 5472
17
Clopidogrel Approved Phase 1 120202-66-6, 113665-84-2 60606
18
Furosemide Approved, Vet_approved Phase 1 54-31-9 3440
19
Memantine Approved, Investigational Phase 1 19982-08-2 4054
20
Ramipril Approved Phase 1 87333-19-5 5362129
21
Dopamine Approved Phase 1 51-61-6, 62-31-7 681
22
Acetaminophen Approved Phase 1 103-90-2 1983
23
Alprazolam Approved, Illicit, Investigational Phase 1 28981-97-7 2118
24
Zopiclone Approved Phase 1 43200-80-2 5735
25
Donepezil Approved Phase 1 120014-06-4 3152
26
Oxazepam Approved Phase 1 604-75-1 4616
27
Pembrolizumab Approved Phase 1 1374853-91-4
28 Neurotransmitter Agents Phase 1,Not Applicable,Early Phase 1
29 Antihypertensive Agents Phase 1,Not Applicable
30 Analgesics Phase 1
31 diuretics Phase 1
32
protease inhibitors Phase 1
33 Fibrinolytic Agents Phase 1
34 Cholinergic Agents Phase 1
35 GABA Agents Phase 1
36 GABA Modulators Phase 1
37 Cholinesterase Inhibitors Phase 1
38 Natriuretic Agents Phase 1
39 Sodium Potassium Chloride Symporter Inhibitors Phase 1
40 Analgesics, Non-Narcotic Phase 1
41 HIV Protease Inhibitors Phase 1
42 Cytochrome P-450 Enzyme Inhibitors Phase 1
43 Nootropic Agents Phase 1
44 Tranquilizing Agents Phase 1
45 Angiotensin-Converting Enzyme Inhibitors Phase 1
46 Anti-Anxiety Agents Phase 1
47 Dopamine Agents Phase 1
48 Peripheral Nervous System Agents Phase 1,Early Phase 1
49 Hypnotics and Sedatives Phase 1
50 Pharmaceutical Solutions 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 Safety, Tolerability and Pharmacokinetic Study of KL1333 in Healthy Male Volunteers 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 X4P-001 and Pembrolizumab in Patients With Advanced Melanoma Recruiting NCT02823405 Phase 1 X4P-001;Pembrolizumab
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
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:

41
Brain, Heart, Skin, Thyroid, Skeletal Muscle, Eye, 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 170)
# Title Authors Year
1
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). ( 29471047 )
2018
2
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 28637934 )
2017
3
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders. ( 29260009 )
2017
4
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
5
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
6
Gastro-intestinal Involvement in m.3243A>G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 29151541 )
2017
7
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
8
MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. ( 26712328 )
2016
9
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. ( 27683045 )
2016
10
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. ( 26851065 )
2016
11
In the heart of MELAS syndrome. ( 27061651 )
2016
12
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
13
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
14
Acute cortical deafness in a child with MELAS syndrome. ( 27056553 )
2016
15
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
16
MELAS syndrome due to the m.3291TA >A C mutation. ( 27134825 )
2016
17
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
18
Arrhythmias in MELAS syndrome. ( 27134827 )
2016
19
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 26960270 )
2016
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
Retinal nerve fibre layer defect associated with MELAS syndrome. ( 26455989 )
2015
23
Advances in the Treatment of MELAS Syndrome: Could Cognitive Rehabilitation Have a Role? ( 26391741 )
2015
24
Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome. ( 25878740 )
2015
25
Arrhythmia as a cardiac manifestation in MELAS syndrome. ( 26937404 )
2015
26
When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis? ( 26517220 )
2015
27
MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options. ( 26095523 )
2015
28
Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome. ( 24412347 )
2014
29
Adrenal insufficiency in a child with MELAS syndrome. ( 24508408 )
2014
30
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
31
MELAS syndrome presenting as an acute surgical abdomen. ( 24417855 )
2014
32
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature. ( 22909780 )
2013
33
A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome with Intracardiac Thrombus [corrected]. ( 23613701 )
2013
34
MELAS syndrome diagnosed in ICU in a 56-year-old patient presenting with status epilepticus. ( 23536165 )
2013
35
CT and MRI imaging of the brain in MELAS syndrome. ( 24115962 )
2013
36
Multimodal Imaging-Monitored Progression of Stroke-Like Episodes in a Case of MELAS Syndrome. ( 23603604 )
2013
37
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate. ( 24082934 )
2013
38
The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome. ( 25411654 )
2013
39
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. ( 23493219 )
2013
40
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. ( 23324391 )
2013
41
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. ( 22325939 )
2012
42
Anti-NMDA receptor antibodies in a case of MELAS syndrome. ( 21898136 )
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
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. ( 22747838 )
2012
48
Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients. ( 21228936 )
2011
49
MELAS syndrome in an Indigenous Australian woman. ( 22107001 )
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:

75
# 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.Asp393Asn VAR_035430 rs267606897
5 MT-ND6 p.Ala74Val VAR_014397 rs199476107

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

6
(show all 30)
# 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-TF m.583G> A single nucleotide variant Pathogenic rs118203885 GRCh38 Chromosome MT, 583: 583
3 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
4 MT-TL1 m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh38 Chromosome MT, 3243: 3243
5 MT-TL1 m.3271T> C single nucleotide variant Pathogenic rs199474658 GRCh37 Chromosome MT, 3271: 3271
6 MT-TL1 m.3271T> C single nucleotide variant Pathogenic rs199474658 GRCh38 Chromosome MT, 3271: 3271
7 MT-TQ m.4332G> A single nucleotide variant Pathogenic rs199476141 GRCh37 Chromosome MT, 4332: 4332
8 MT-TQ m.4332G> A single nucleotide variant Pathogenic rs199476141 GRCh38 Chromosome MT, 4332: 4332
9 MT-ND6 m.14453G> A single nucleotide variant Pathogenic rs199476107 GRCh37 Chromosome MT, 14453: 14453
10 MT-ND6 m.14453G> A single nucleotide variant Pathogenic rs199476107 GRCh38 Chromosome MT, 14453: 14453
11 MT-ND5 m.12770A> G single nucleotide variant Pathogenic rs267606894 GRCh37 Chromosome MT, 12770: 12770
12 MT-ND5 m.12770A> G single nucleotide variant Pathogenic rs267606894 GRCh38 Chromosome MT, 12770: 12770
13 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh37 Chromosome MT, 13045: 13045
14 MT-ND5 m.13045A> C single nucleotide variant Pathogenic rs267606895 GRCh38 Chromosome MT, 13045: 13045
15 MT-ND5 m.13084A> T single nucleotide variant Pathogenic rs267606896 GRCh37 Chromosome MT, 13084: 13084
16 MT-ND5 m.13084A> T single nucleotide variant Pathogenic rs267606896 GRCh38 Chromosome MT, 13084: 13084
17 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh37 Chromosome MT, 13513: 13513
18 MT-ND5; MT-TL1 m.13513G> A single nucleotide variant Pathogenic rs267606897 GRCh38 Chromosome MT, 13513: 13513
19 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh37 Chromosome MT, 13042: 13042
20 MT-ND5 m.13042G> A single nucleotide variant Pathogenic rs267606898 GRCh38 Chromosome MT, 13042: 13042
21 MT-ND4 m.11084A> G single nucleotide variant Pathogenic rs199476113 GRCh37 Chromosome MT, 11084: 11084
22 MT-ND4 m.11084A> G single nucleotide variant Pathogenic rs199476113 GRCh38 Chromosome MT, 11084: 11084
23 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh37 Chromosome MT, 3697: 3697
24 MT-ND1 m.3697G> A single nucleotide variant Pathogenic rs199476122 GRCh38 Chromosome MT, 3697: 3697
25 MT-ND1 m.3946G> A single nucleotide variant Pathogenic rs199476123 GRCh37 Chromosome MT, 3946: 3946
26 MT-ND1 m.3946G> A single nucleotide variant Pathogenic rs199476123 GRCh38 Chromosome MT, 3946: 3946
27 MT-ND1 m.3949T> C single nucleotide variant Pathogenic rs199476124 GRCh37 Chromosome MT, 3949: 3949
28 MT-ND1 m.3949T> C single nucleotide variant Pathogenic rs199476124 GRCh38 Chromosome MT, 3949: 3949
29 NDUFS1 NM_001199981.1(NDUFS1): c.650T> G (p.Val217Gly) single nucleotide variant Likely pathogenic rs786205666 GRCh37 Chromosome 2, 207009730: 207009730
30 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:

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 9.9 GTPBP3 MAPT MT-CO1 MT-CO2 MT-CO3 MT-ND1
2 mitochondrial membrane GO:0031966 9.71 MT-ND1 MT-ND3 MT-ND4 MT-ND6
3 mitochondrial respiratory chain complex I GO:0005747 9.62 MT-ND1 MT-ND3 MT-ND4 MT-ND5
4 mitochondrial inner membrane GO:0005743 9.56 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3 MT-ND4
5 mitochondrial respiratory chain complex IV GO:0005751 9.54 MT-CO1 MT-CO2 MT-CO3
6 respiratory chain complex IV GO:0045277 9.43 MT-CO1 MT-CO2 MT-CO3
7 respiratory chain GO:0070469 9.17 MT-CO1 MT-CO2 MT-ND1 MT-ND3 MT-ND4 MT-ND5

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 proton transmembrane transport GO:1902600 9.61 MT-CO1 MT-CO2 MT-CO3
3 aerobic respiration GO:0009060 9.54 MT-CO1 MT-CO3 MT-ND4
4 respiratory electron transport chain GO:0022904 9.46 MT-CO1 MT-CO3
5 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.43 MT-CO1 MT-CO2 MT-CO3
6 electron transport coupled proton transport GO:0015990 9.4 MT-CO1 MT-ND4
7 mitochondrial respiratory chain complex I assembly GO:0032981 9.35 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
8 ATP synthesis coupled electron transport GO:0042773 9.33 MT-CO2 MT-ND4 MT-ND5
9 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 9.7 MT-CO1 MT-CO2 MT-ND1 MT-ND3 MT-ND4 MT-ND5
2 cytochrome-c oxidase activity GO:0004129 9.43 MT-CO1 MT-CO2 MT-CO3
3 NADH dehydrogenase activity GO:0003954 9.13 MT-ND1 MT-ND4 MT-ND5
4 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
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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