MELAS
MCID: MTC114
MIFTS: 61

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

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

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

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

Name: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 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 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 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. Affiliated tissues include brain, heart and thyroid, 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 128)
# Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency 31.6 MT-CO1 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 lactic acidosis 31.6 GTPBP3 LARS2 MT-CO1 MT-CO3 MT-ND1 MT-ND4
3 mitochondrial myopathy 31.5 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND4 MT-ND5
4 mitochondrial encephalomyopathy 30.5 LARS2 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3
5 mitochondrial complex iv deficiency 30.2 MT-CO1 MT-CO2 MT-CO3 MT-ND4 MT-TL1
6 neuropathy 30.0 MT-ND1 MT-ND4 MT-ND5 MT-ND6 POLG
7 optic nerve disease 29.9 MT-ND1 MT-ND4 MT-ND5 MT-ND6
8 dystonia 29.9 MT-ND1 MT-ND3 MT-ND4 MT-ND6
9 peripheral nervous system disease 29.9 MT-ND4 MT-ND6 POLG
10 kearns-sayre syndrome 29.9 MT-CO1 MT-CO2 MT-ND1 MT-ND4 MT-ND5 MT-ND6
11 leber hereditary optic neuropathy 29.6 MT-CO1 MT-CO3 MT-ND1 MT-ND3 MT-ND4 MT-ND5
12 mitochondrial metabolism disease 29.6 MT-CO2 MT-ND3 MT-ND4 MT-ND5 MT-ND6 MT-TL1
13 myoclonic epilepsy associated with ragged-red fibers 29.3 MT-ND4 MT-ND5 MT-TF MT-TH MT-TL1 MT-TQ
14 leigh syndrome 29.1 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3 MT-ND4
15 myopathy 11.3
16 encephalopathy 11.3
17 leigh syndrome, french canadian type 11.0
18 mohr-tranebjaerg syndrome 11.0
19 diabetes mellitus 10.6
20 creutzfeldt-jakob disease 10.4
21 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
22 muscle disorders 10.4
23 meningoencephalitis 10.4
24 dementia 10.4
25 hypothyroidism 10.4
26 status epilepticus 10.4
27 intestinal pseudo-obstruction 10.4
28 growth hormone deficiency 10.4
29 depression 10.4
30 myoclonus 10.4
31 retinal detachment 10.4
32 superior mesenteric artery syndrome 10.4
33 pituitary gland disease 10.4
34 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 10.3 MAPT RPS27A
35 semantic dementia 10.3 MAPT RPS27A
36 parkinson disease 6, autosomal recessive early-onset 10.3 MT-ND5 MT-ND6
37 myiasis 10.3 MT-CO1 MT-ND5
38 genetic recurrent myoglobinuria 10.3 MT-CO1 MT-CO3
39 sideroblastic anemia acquired 10.2 MT-CO1 MT-CO2
40 coenurosis 10.2 MT-CO1 MT-ND1
41 deafness, aminoglycoside-induced 10.2 MT-CO1 MT-ND4 MT-TS1
42 alzheimer disease mitochondrial 10.2 MAPT MT-ND1
43 cercarial dermatitis 10.2 MT-CO1 MT-ND4 MT-TW
44 sparganosis 10.2 MT-CO1 MT-ND3 MT-ND4
45 striatonigral degeneration, infantile, mitochondrial 10.2 MT-CO3 MT-ND3 MT-ND4
46 striatonigral degeneration, infantile 10.2 MT-CO3 MT-ND3 MT-ND4
47 mitochondrial non-syndromic sensorineural deafness 10.2 MT-CO1 MT-TH MT-TS1
48 maternally-inherited progressive external ophthalmoplegia 10.2 MT-TL1 MT-TS1 POLG
49 myopathy, lactic acidosis, and sideroblastic anemia 3 10.2 MT-CO3 MT-ND3 MT-ND4
50 epilepsy, familial temporal lobe, 2 10.2 MT-CO1 MT-CO3

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 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
29 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
30 abnormality of retinal pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0007703
31 ichthyosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0008064
32 abnormality of visual evoked potentials 59 32 occasional (7.5%) Occasional (29-5%) HP:0000649
33 reduced consciousness/confusion 59 32 frequent (33%) Frequent (79-30%) HP:0004372
34 feeding difficulties in infancy 59 32 occasional (7.5%) Occasional (29-5%) HP:0008872
35 renal insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0000083
36 proteinuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000093
37 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
38 fever 59 32 occasional (7.5%) Occasional (29-5%) HP:0001945
39 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
40 type i diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0100651
41 hypertrophic cardiomyopathy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001639
42 elevated serum creatine phosphokinase 59 32 hallmark (90%) Very frequent (99-80%) HP:0003236
43 emg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0003457
44 skeletal muscle atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0003202
45 abdominal pain 59 32 frequent (33%) Frequent (79-30%) HP:0002027
46 pulmonary arterial hypertension 59 32 occasional (7.5%) Occasional (29-5%) HP:0002092
47 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
48 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
49 generalized hirsutism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002230
50 decreased nerve conduction velocity 59 32 frequent (33%) Frequent (79-30%) HP:0000762

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


ophthalmoplegia, hemiparesis

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

Search Clinical Trials , 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, Thyroid, Skin, Skeletal Muscle, Eye, Kidney

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 220)
# Title Authors Year
1
A urinary biosignature for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke like episodes (MELAS). ( 29471047 )
2018
2
Cardiomyopathy associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. ( 30535308 )
2018
3
Fixation-off sensitivity in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. ( 30500480 )
2018
4
The utility of arginine-citrulline stable isotope tracer infusion technique in the assessment of nitric oxide production in MELAS syndrome. ( 28843720 )
2018
5
The accumulation of assembly intermediates of the mitochondrial complex I matrix arm is reduced by limiting glucose uptake in a neuronal-like model of MELAS syndrome. ( 29454073 )
2018
6
Global cerebral involvement and L-arginine use in a patient with MELAS syndrome. ( 29907473 )
2018
7
Mitochondrial DNA 3243A>T mutation in a patient with MELAS syndrome. ( 30210801 )
2018
8
No MELAS syndrome without heteroplasmy levels or multisystem examination. ( 30424884 )
2018
9
Clinical profile and outcome of cardiac involvement in MELAS syndrome. ( 30482630 )
2018
10
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 28637934 )
2017
11
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with hypothyroidism and psychiatric disorders. ( 29260009 )
2017
12
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
13
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
14
Gastro-intestinal Involvement in m.3243A>G-associated Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 29151541 )
2017
15
Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes-MELAS Syndrome. ( 29026367 )
2017
16
Anesthetic Management of Mitochondrial Encephalopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome) in a High-Risk Pregnancy: A Case Report. ( 28398928 )
2017
17
MELAS syndrome presenting with seizure and deafness in a Malawian boy. ( 27663492 )
2017
18
The l-arginine/NO pathway in the MELAS syndrome: An insufficiently explored and controversial research area. ( 27863941 )
2017
19
Letter to the Editor: "Unaltered L-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome?" ( 27986282 )
2017
20
Prognostication in MELAS syndrome and other m.3243A-G mutation-associated disorders. ( 28000982 )
2017
21
Analytical challenges in the assessment of NO synthesis from L-arginine in the MELAS syndrome. ( 28041706 )
2017
22
Kidney involvement in MELAS syndrome: Description of 2 cases. ( 28283275 )
2017
23
Cortical venous disease severity in MELAS syndrome correlates with brain lesion development. ( 28667360 )
2017
24
Involvement of the cerebral veins in MELAS syndrome? ( 28721442 )
2017
25
Arginine and citrulline for the treatment of MELAS syndrome. ( 28736735 )
2017
26
Response regarding involvement of the cerebral veins in MELAS syndrome. ( 28801831 )
2017
27
Black Toenail Sign in MELAS Syndrome. ( 28818358 )
2017
28
MELAS syndrome associated with a new mitochondrial tRNA-Val gene mutation (m.1616A>G). ( 28893805 )
2017
29
Pathology of mitochondria in MELAS syndrome: an ultrastructural study. ( 29025253 )
2017
30
Cognitive impairment, clinical severity and MRI changes in MELAS syndrome. ( 29289801 )
2017
31
MELAS syndrome and cardiomyopathy: linking mitochondrial function to heart failure pathogenesis. ( 26712328 )
2016
32
MELAS Syndrome and Kidney Disease Without Fanconi Syndrome or Proteinuria: A Case Report. ( 27683045 )
2016
33
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation. ( 26851065 )
2016
34
In the heart of MELAS syndrome. ( 27061651 )
2016
35
Acquired Dysfibrinogenemia Caused by Autoantibody Inhibiting Fibrin Polymerization in a Patient with MELAS Syndrome and Bleeding Tendency. ( 27993886 )
2016
36
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
37
Acute cortical deafness in a child with MELAS syndrome. ( 27056553 )
2016
38
Audiological manifestations in mitochondrial encephalomyopathy lactic acidosis and stroke like episodes (MELAS) syndrome. ( 27359089 )
2016
39
MELAS syndrome due to the m.3291TA >A C mutation. ( 27134825 )
2016
40
Anesthetic considerations for renal transplant surgery in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome: a case report. ( 27687406 )
2016
41
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
42
Arrhythmias in MELAS syndrome. ( 27134827 )
2016
43
Unaltered l-arginine/NO pathway in a MELAS patient: Is mitochondrial NO synthase involved in the MELAS syndrome? ( 27544610 )
2016
44
MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach. ( 27891257 )
2016
45
Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 26112726 )
2015
46
Macular pattern dystrophy and homonymous hemianopia in MELAS syndrome. ( 25766436 )
2015
47
Retinal nerve fibre layer defect associated with MELAS syndrome. ( 26455989 )
2015
48
Advances in the Treatment of MELAS Syndrome: Could Cognitive Rehabilitation Have a Role? ( 26391741 )
2015
49
Speech-Language and swallowing manifestations and rehabilitation in an 11-year-old girl with MELAS syndrome. ( 25878740 )
2015
50
Arrhythmia as a cardiac manifestation in MELAS syndrome. ( 26937404 )
2015

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 32)
# 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 NC_012920.1: m.3243A> G single nucleotide variant Pathogenic rs199474657 GRCh37 Chromosome MT, 3243: 3243
4 MT-TL1 NC_012920.1: 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 MT-TC m.5814T> C single nucleotide variant Uncertain significance rs200077222 GRCh38 Chromosome MT, 5814: 5814
30 MT-TC m.5814T> C single nucleotide variant Uncertain significance rs200077222 GRCh37 Chromosome MT, 5814: 5814
31 NDUFS1 NM_001199981.1(NDUFS1): c.650T> G (p.Val217Gly) single nucleotide variant Likely pathogenic rs786205666 GRCh37 Chromosome 2, 207009730: 207009730
32 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 LARS2 MAPT MT-CO1 MT-CO2 MT-CO3
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 9.91 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 mitochondrial electron transport, NADH to ubiquinone GO:0006120 9.56 MT-ND1 MT-ND3 MT-ND4 MT-ND5
4 mitochondrial electron transport, cytochrome c to oxygen GO:0006123 9.5 MT-CO1 MT-CO2 MT-CO3
5 electron transport coupled proton transport GO:0015990 9.4 MT-CO1 MT-ND4
6 ATP synthesis coupled electron transport GO:0042773 9.33 MT-CO2 MT-ND4 MT-ND5
7 aerobic respiration GO:0009060 9.26 MT-CO1 MT-CO3 MT-ND1 MT-ND4
8 mitochondrial respiratory chain complex I assembly GO:0032981 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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