MCID: MTC114
MIFTS: 53

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 54 12 25 38
Melas Syndrome 12 50 25 42 14 69
Melas 23 50 24 25 56 71
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 23 24 25
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 24 25
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 71
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 56
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 56
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 50
Mitochondrial Encephalomyopathy, Lactic Acidosis,stroke-Like Episodes 23
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 25

Characteristics:

Orphanet epidemiological data:

56
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:

54
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:
Onset and clinical course variable expressivity
Mortality/Aging death in early adulthood
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 54 540000
Disease Ontology 12 DOID:3687
ICD10 33 E88.41
MeSH 42 D017241
NCIt 47 C84885
SNOMED-CT 64 240097009 39925003
Orphanet 56 ORPHA550
MESH via Orphanet 43 D017241
UMLS via Orphanet 70 C0162671
ICD10 via Orphanet 34 G71.3
MedGen 40 C0162671
UMLS 69 C0162671

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

NIH Rare Diseases : 50 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 merrf/melas overlap syndrome, and has symptoms including short stature, visual impairment and optic atrophy. 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 Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and GABAergic synapse. The drugs Vaccines and Idebenone have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin.

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.

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 : 54
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)

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 62)
id Related Disease Score Top Affiliating Genes
1 mitochondrial complex i deficiency 31.8 MT-ND1 MT-ND3 MT-ND4 MT-ND5 MT-ND6
2 merrf/melas overlap syndrome 11.9
3 melas, mt-nd1-related 11.8
4 melas, mt-nd5-related 11.8
5 melas, mt-nd6-related 11.8
6 melas, mt-tf-related 11.8
7 melas, mt-tk-related 11.8
8 melas, mt-tl1-related 11.8
9 melas, mt-tq-related 11.8
10 melas, mt-ts1-related 11.8
11 melas, mt-th-related 11.7
12 mitochondrial encephalomyopathy 11.3
13 myopathy 10.9
14 encephalopathy 10.9
15 lactic acidosis 10.9
16 parkinson disease 6, early onset 10.9 MT-ND5 MT-ND6
17 seow najjar syndrome 10.9 MAPT RPS27A
18 congenital pulmonary veins atresia or stenosis 10.8 MT-TL1 MT-TS1
19 mohr-tranebjaerg syndrome 10.8
20 ceroid lipofuscinosis, neuronal, 11 10.8 MAPT RPS27A
21 distal hereditary motor neuropathy type v 10.8 MT-TK MT-TL1
22 nipah virus disease 10.8 MT-CO1 MT-CO3
23 q fever 10.8 MT-CO1 MT-ND5
24 moved to {607459} 10.8 MT-TK MT-TL1
25 hyperekplexia, hereditary 1, autosomal dominant or recessive 10.8 MAPT RPS27A
26 adenylosuccinase deficiency 10.7 MT-CO1 MT-ND4 MT-TS1
27 basilar impression, primary 10.7 MAPT RPS27A
28 acanthocephaliasis 10.7 MT-CO1 MT-ND1
29 histoplasmosis retinitis 10.7 MT-CO1 MT-ND4 MT-TW
30 achalasia, familial esophageal 10.7 MT-CO2 MT-TK
31 pleomorphic carcinoma 10.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
32 allergic contact dermatitis of eyelid 10.7 MT-ND1 MT-ND4 MT-ND5 MT-ND6
33 isolated congenital alacrima 10.6 MT-CO1 MT-TH MT-TS1
34 gastric leiomyoma 10.6 MT-CO1 MT-ND3 MT-ND4
35 extrapontine myelinolysis 10.6 MT-ND3 MT-ND5
36 cough headache 10.6 MAPT RPS27A
37 fetal akinesia deformation sequence 10.6 MT-CO1 MT-TC MT-TH
38 decubitus ulcer 10.6 MT-ND1 MT-ND4 MT-ND5 MT-ND6
39 extrapulmonary tuberculosis 10.6 MT-CO1 MT-ND1
40 leiner disease 10.6 MT-ND1 MT-ND3 MT-ND4 MT-ND6
41 parkinson disease, late-onset 10.5 MAPT MT-ND1 MT-ND5 RPS27A
42 reproductive system disease 10.5 MT-CO1 MT-ND1
43 enchondromatosis dwarfism deafness 10.5 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
44 cutaneous mastocytosis 10.5 MT-CO3 MT-ND1 MT-ND4 MT-ND5 MT-ND6
45 syphilitic encephalitis 10.4 MT-CO1 MT-ND1
46 status epilepticus 10.3
47 mitochondrial complex iv deficiency 10.3 MT-CO1 MT-CO2 MT-CO3 MT-TL1 MT-TS1
48 sparganosis 10.3 MT-CO1 MT-ND3 MT-ND5 MT-TL1 MT-TS2
49 mental retardation with spastic paraplegia 10.3 MT-CO2 MT-ND4 MT-ND5 MT-ND6 MT-TK MT-TL1
50 mhs3-related malignant hyperthermia susceptibility 10.2 MT-TH MT-TK MT-TL1 MT-TS1 MT-TS2

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:

54

Neurologic- Central Nervous System:
encephalopathy
hemiparesis
dementia
stroke-like episodes
episodic sudden headache
more
Cardiovascular- Heart:
left ventricular hypertrophy
heart failure
cardiac conduction abnormalities
wolff-parkinson-white syndrome
left ventricular dysfunction

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

Endocrine Features:
diabetes mellitus

Abdomen- Gastroin testinal:
episodic vomiting

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

Metabolic Features:
lactic acidosis

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

Cardiovascular- Vascular:
hypertension

Growth- Other:
thin

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:

56 32 (show top 50) (show all 133)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 visual impairment 56 32 occasional (7.5%) Occasional (29-5%) HP:0000505
3 optic atrophy 56 32 occasional (7.5%) Occasional (29-5%) HP:0000648
4 dystonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001332
5 dysarthria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001260
6 ataxia 56 32 frequent (33%) Frequent (79-30%) HP:0001251
7 tremor 56 32 occasional (7.5%) Occasional (29-5%) HP:0001337
8 ventriculomegaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0002119
9 hypercalciuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0002150
10 migraine 56 32 hallmark (90%) Very frequent (99-80%) HP:0002076
11 ptosis 56 32 frequent (33%) Frequent (79-30%) HP:0000508
12 microcephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000252
13 proteinuria 56 32 occasional (7.5%) Occasional (29-5%) HP:0000093
14 hypertelorism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000316
15 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
16 arthrogryposis multiplex congenita 56 32 occasional (7.5%) Occasional (29-5%) HP:0002804
17 hypertrophic cardiomyopathy 56 32 occasional (7.5%) Occasional (29-5%) HP:0001639
18 muscle weakness 56 32 hallmark (90%) Very frequent (99-80%) HP:0001324
19 lactic acidosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0003128
20 increased serum lactate 56 32 hallmark (90%) Very frequent (99-80%) HP:0002151
21 apnea 56 32 occasional (7.5%) Occasional (29-5%) HP:0002104
22 renal insufficiency 56 32 occasional (7.5%) Occasional (29-5%) HP:0000083
23 aortic dissection 56 32 occasional (7.5%) Occasional (29-5%) HP:0002647
24 depression 56 32 frequent (33%) Frequent (79-30%) HP:0000716
25 hallucinations 56 32 frequent (33%) Frequent (79-30%) HP:0000738
26 clonus 56 32 frequent (33%) Frequent (79-30%) HP:0002169
27 pancreatitis 56 32 frequent (33%) Frequent (79-30%) HP:0001733
28 cataract 56 32 occasional (7.5%) Occasional (29-5%) HP:0000518
29 autism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000717
30 cerebral cortical atrophy 56 32 frequent (33%) Frequent (79-30%) HP:0002120
31 delayed puberty 56 32 occasional (7.5%) Occasional (29-5%) HP:0000823
32 constipation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002019
33 hypertension 56 32 occasional (7.5%) Occasional (29-5%) HP:0000822
34 myalgia 56 32 occasional (7.5%) Occasional (29-5%) HP:0003326
35 memory impairment 56 32 frequent (33%) Frequent (79-30%) HP:0002354
36 ichthyosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0008064
37 aphasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002381
38 fever 56 32 occasional (7.5%) Occasional (29-5%) HP:0001945
39 malabsorption 56 32 occasional (7.5%) Occasional (29-5%) HP:0002024
40 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
41 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
42 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
43 abdominal pain 56 32 frequent (33%) Frequent (79-30%) HP:0002027
44 nephrotic syndrome 56 32 occasional (7.5%) Occasional (29-5%) HP:0000100
45 goiter 56 32 occasional (7.5%) Occasional (29-5%) HP:0000853
46 hyperthyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000836
47 pulmonary embolism 56 32 occasional (7.5%) Occasional (29-5%) HP:0002204
48 intestinal obstruction 56 32 occasional (7.5%) Occasional (29-5%) HP:0005214
49 hypothyroidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000821
50 muscular hypotonia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001252

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 all 7)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 4
2
Idebenone Approved, Investigational Phase 2 58186-27-9
3 Antioxidants Phase 2
4 Micronutrients Phase 2
5 Protective Agents Phase 2
6 Trace Elements Phase 2
7 Ubiquinone Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS) Completed NCT01831934 Phase 4
2 Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like Episodes Completed NCT00887562 Phase 2 Idebenone;Idebenone
3 Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554

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...

Genetic tests related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

id Genetic test Affiliating Genes
1 Melas 24

Anatomical Context for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

MalaCards organs/tissues related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

39
Brain, Heart, Skin, Skeletal Muscle, Thyroid, Eye, Cerebellum

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

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

(show all 30)
id 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. ( 28883258 )
2017
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
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
4
Early Onset of Diabetes Mellitus Accelerates Cognitive Decline in Japanese Patients with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes. ( 27063563 )
2016
5
A case of rhabdomyolysis after status epilepticus without stroke-like episodes in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 26960270 )
2016
6
When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis? ( 26517220 )
2015
7
Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. ( 26112726 )
2015
8
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate. ( 24082934 )
2013
9
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report. ( 20036095 )
2012
10
Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: an important cause of stroke in young people. ( 22328278 )
2012
11
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
12
An autopsy case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) with intestinal bleeding in chronic renal failure. ( 21631236 )
2011
13
Diffusion and perfusion characteristics of MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode) in thirteen patients. ( 21228936 )
2011
14
Treatment options for mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. ( 20973690 )
2010
15
Depressive episode with catatonic features in a case of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ( 19451268 )
2009
16
Cardiac scintigraphic findings of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: A case report. ( 19343124 )
2008
17
Marked left ventricular hypertrophy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 17900719 )
2008
18
Intestinal pseudo-obstruction in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) associated with phenytoin therapy. ( 18226864 )
2008
19
Acute hearing loss in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ( 17966957 )
2007
20
Anesthetic management of a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) during laparotomy. ( 17285419 )
2007
21
A follow-up study in a Taiwanese family with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome. ( 17660142 )
2007
22
Vascular involvement in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. ( 15894869 )
2005
23
Effects of nitric oxide donors on cybrids harbouring the mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) A3243G mitochondrial DNA mutation. ( 15969653 )
2005
24
Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. ( 12536371 )
2002
25
Ketoacidosis accompanied by epileptic seizures in a patient with diabetes mellitus and mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ( 11119021 )
2000
26
Spinal anesthesia in MELAS syndrome: a case with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. ( 11000676 )
2000
27
Anesthetic considerations in patients presenting with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. ( 9390617 )
1997
28
Alzheimer-type pathology in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ( 8870835 )
1996
29
Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS). ( 1899574 )
1991
30
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with acanthocytosis: a clinicopathological study of a unique case. ( 2427665 )
1986

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
id 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 16)
id 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 MT-TC m.5814T> C single nucleotide variant Pathogenic rs200077222 GRCh37 Chromosome MT, 5814: 5814
16 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...

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:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.97 GTPBP3 MT-CO1 MT-CO2 MT-CO3 MT-ND1 MT-ND3
2 mitochondrial membrane GO:0031966 9.62 MT-ND1 MT-ND3 MT-ND4 MT-ND6
3 mitochondrial respiratory chain complex I GO:0005747 9.56 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 9.4 MT-CO1 MT-CO2
6 respiratory chain complex IV GO:0045277 9.33 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:

id 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:

id 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 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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