MCID: MTC023
MIFTS: 35

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes malady

Rare diseases category

Aliases & Classifications for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes, Aliases & Descriptions:

Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 41
Melas Syndrome 41 21 60
Melas 41 21
Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome 45
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 21
 
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 41
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 21
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 41
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 21
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases


External Ids:

OMIM45 540000

Summaries for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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NIH Rare Diseases:41 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 Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes, also known as melas syndrome, is related to lactic acidosis and mitochondrial disorders, and has symptoms including progressive sensorineural hearing impairment, congenital cataract and dementia. An important gene associated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes is MT-TC (mitochondrially encoded tRNA cysteine), and among its related pathways are tRNA Aminoacylation and Metabolism. The compounds isoleucine and rotenone have been mentioned in the context of this disorder. Affiliated tissues include brain, pituitary and skin.

Genetics Home Reference:21 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:45 MELAS syndrome, comprising mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, is a... (540000) more...

Related Diseases for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.6MT-ND5, MT-ND1, MT-ND4
2mitochondrial disorders30.0MT-ND4, MT-ND5
3leigh syndrome29.7MT-ND4, MT-ND6, MT-ND5
4leber hereditary optic neuropathy29.2MT-ND4, MT-ND1, MT-ND6, MT-ND5
5mitochondrial encephalomyopathy11.3
6encephalomyopathy11.3
7melas syndrome10.9
8pancreatitis10.8
9intestinal pseudo-obstruction10.6
10growth hormone deficiency10.6
11superior mesenteric artery syndrome10.6
12encephalitis10.6
13herpes simplex10.6
14intestinal obstruction10.6
15herpes simplex encephalitis10.6
16mitochondrial cardiomyopathy10.6
17ileus10.6
18endotheliitis10.6
19myopathy10.5
20merrf/melas overlap syndrome10.4
21cerebritis10.3
22status epilepticus10.2
23hyperthyroidism10.2
24thyroiditis10.2
25melas, mt-nd6-related10.2
26melas, mt-nd1-related10.2
27melas, mt-tk-related10.2
28melas, mt-ts1-related10.2
29melas, mt-nd5-related10.2
30melas, mt-tl1-related10.2
31melas, mt-ts2-related10.2
32melas, mt-tf-related10.2
33melas, mt-tq-related10.2
34melas, mt-th-related10.2
35auditory agnosia10.1
36paralytic ileus10.1
37choroiditis10.1
38agnosia10.1
39melanoma10.1
40leber hereditary optic neuropathy with dystonia10.0MT-ND6, MT-ND4
41aspergillosis10.0
42moyamoya disease10.0
43migraine10.0
44neuronitis10.0
45meningoencephalitis10.0
46cortical blindness10.0
47chickenpox10.0
48invasive aspergillosis10.0
49sensorineural hearing loss10.0
50cystadenocarcinoma10.0

Graphical network of the top 20 diseases related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:



Diseases related to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Symptoms for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Symptoms by clinical synopsis from OMIM:

540000

Clinical features from OMIM:

540000

HPO human phenotypes related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

(show all 18)
id Description Frequency HPO Source Accession
1 progressive sensorineural hearing impairment HP:0000408
2 congenital cataract HP:0000519
3 dementia HP:0000726
4 hemiparesis HP:0001269
5 encephalopathy HP:0001298
6 mitochondrial inheritance HP:0001427
7 growth abnormality HP:0001507
8 generalized tonic-clonic seizures HP:0002069
9 migraine HP:0002076
10 stroke-like episodes HP:0002401
11 episodic vomiting HP:0002572
12 lactic acidosis HP:0003128
13 myopathy HP:0003198
14 ragged-red muscle fibers HP:0003200
15 mitochondrial myopathy HP:0003737
16 bilateral sensorineural hearing impairment HP:0008619
17 hemianopsia HP:0012377
18 cortical visual impairment HP:0100704

Drugs & Therapeutics for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Drug clinical trials:

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Genetic Tests for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Anatomical Context for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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MalaCards organs/tissues related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

31
Brain, Pituitary, Skin, Endothelial

Animal Models for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like... or affiliated genes

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Publications for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Articles related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

(show all 24)
idTitleAuthorsYear
1
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. (24655600)
2014
2
High cytochrome c oxidase expression links to severe skeletal energy failure by (31)P-MRS spectroscopy in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (24674659)
2014
3
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
4
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). (23079769)
2012
5
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (21427669)
2011
6
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. (21656321)
2011
7
Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (20799154)
2010
8
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (19095975)
2009
9
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes in a 69-year-old woman. (18613903)
2008
10
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with the A3243G mutation of the tRNALeu(UUR) gene of mtDNA in native American haplogroup B2. (17199225)
2007
11
Design and use of a peptide nucleic acid for detection of the heteroplasmic low-frequency mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation in human mitochondrial DNA. (12446471)
2002
12
Correction of pancreatic beta-cell dysfunction with coenzyme Q(10) in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome and diabetes mellitus. (10601810)
2000
13
Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). (10233312)
1999
14
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
15
A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9875091)
1998
16
Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. (9718939)
1998
17
Cerebrospinal fluid lactate and pyruvate concentrations in patients with Parkinson's disease and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) (9069491)
1997
18
A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. (9622295)
1997
19
An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. (8836506)
1996
20
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
21
Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). (7651935)
1995
22
Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNA(LEU(UUR)) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (7988784)
1994
23
Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (7965431)
1994
24
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) associated with hypothalamo-pituitary hypofunction--a case report]. (2060243)
1991

Variations for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Clinvar genetic disease variations for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1MT-TCm.5814T> Csingle nucleotide variantPathogenicrs200077222GRCh37Chr MT, 5814: 5814
2MT-TFm.583G> Asingle nucleotide variantPathogenicrs118203885GRCh37Chr MT, 583: 583
3MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243
4MT-TL1m.3271T> Csingle nucleotide variantPathogenicrs199474658GRCh37Chr MT, 3271: 3271
5MT-TQm.4332G> Asingle nucleotide variantPathogenicrs199476141GRCh37Chr MT, 4332: 4332
6MT-ND6m.14453G> Asingle nucleotide variantPathogenicrs199476107GRCh37Chr MT, 14453: 14453
7MT-ND5m.12770A> Gsingle nucleotide variantPathogenicrs267606894GRCh37Chr MT, 12770: 12770
8MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
9MT-ND5m.13084A> Tsingle nucleotide variantPathogenicrs267606896GRCh37Chr MT, 13084: 13084
10MT-ND5m.13513G> Asingle nucleotide variantPathogenicrs267606897GRCh37Chr MT, 13513: 13513
11MT-ND5m.13042G> Asingle nucleotide variantPathogenicrs267606898GRCh37Chr MT, 13042: 13042
12MT-ND4m.11084A> Gsingle nucleotide variantPathogenicGRCh37Chr MT, 11084: 11084
13MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
14MT-ND1m.3946G> Asingle nucleotide variantPathogenicrs199476123GRCh37Chr MT, 3946: 3946
15MT-ND1m.3949T> Csingle nucleotide variantPathogenicrs199476124GRCh37Chr MT, 3949: 3949

Expression for genes affiliated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Search GEO for disease gene expression data for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes.

Pathways for genes affiliated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Compounds for genes affiliated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank
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Compounds related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

(show all 17)
idCompoundScoreTop Affiliating Genes
1isoleucine439.5MT-ND4, MT-ND6
2rotenone439.3MT-ND6, MT-ND1
3methionine438.9MT-ND1, MT-ND6, MT-ND5
4Sulfide248.9MT-ND6, MT-ND1, MT-ND4
5QH2248.9MT-ND4, MT-ND1, MT-ND6
6Ubiquinone Q2248.8MT-ND6, MT-ND1, MT-ND4
7pyruvate438.8MT-ND1, MT-ND4
8FAD248.8MT-ND6, MT-ND1, MT-ND4
9iron43 249.7MT-ND6, MT-ND1, MT-ND4
10threonine438.7MT-ND5, MT-ND1, MT-ND4
11atp43 289.7MT-ND5, MT-ND1, MT-ND4
12alanine438.6MT-ND1, MT-ND6, MT-ND5
13Ubiquinol 8248.5MT-ND5, MT-ND6, MT-ND1, MT-ND4
14Ubiquinone Q1248.5MT-ND4, MT-ND1, MT-ND6, MT-ND5
15valine438.5MT-ND5, MT-ND6, MT-ND1, MT-ND4
16nad28 249.5MT-ND4, MT-ND1, MT-ND6, MT-ND5
17nadh43 24 1210.4MT-ND4, MT-ND1, MT-ND6, MT-ND5

GO Terms for genes affiliated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Products for genes affiliated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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Sources for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like...

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet