MCID: MTC023
MIFTS: 25

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

Name: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes 45
Melas Syndrome 45 23 65
Melas 45 23
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 23
 
Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes 23
Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 23
Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode 23


Classifications:



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

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NIH Rare Diseases:45 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 mitochondrial genetic disorders and lactic acidosis. An important gene associated with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes is GH1 (Growth Hormone 1), and among its related pathways is NF-KappaB Family Pathway. Affiliated tissues include brain, pituitary and skin.

Genetics Home Reference:23 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).

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 126)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial genetic disorders29.8GH1, GHRH, MELAS
2lactic acidosis11.3
3mitochondrial encephalomyopathy11.3
4encephalomyopathy11.3
5melas syndrome10.9
6pancreatitis10.8
7encephalopathy10.7
8growth hormone deficiency10.6
9myopathy10.6
10superior mesenteric artery syndrome10.6
11encephalitis10.6
12herpes simplex10.6
13intestinal obstruction10.6
14herpes simplex encephalitis10.6
15cardiomyopathy10.6
16mitochondrial cardiomyopathy10.6
17endotheliitis10.6
18merrf/melas overlap syndrome10.4
19cerebritis10.3
20mitochondrial disorders10.3
21stroke, ischemic10.2
22adult syndrome10.2
23child syndrome10.2
24muscle disorders10.2
25sensorineural hearing loss10.2
26cerebrovascular disease10.2
27mitochondrial metabolism disease10.2
28neuromuscular disease10.2
29prion disease10.2
30genetic brain disorders10.2
31kid syndrome10.2
32melas, mt-tf-related10.2
33melas, mt-tk-related10.2
34melas, mt-tl1-related10.2
35melas, mt-tq-related10.2
36melas, mt-ts1-related10.2
37melas, mt-ts2-related10.2
38neuronitis10.2
39muscle tissue disease10.2
40melas, mt-nd1-related10.2
41melas, mt-nd5-related10.2
42melas, mt-nd6-related10.2
43melas, mt-th-related10.2
44mitochondrial myopathy with lactic acidosis10.1
45spinal and bulbar muscular atrophy of kennedy10.1
46choroiditis10.1
47status epilepticus10.1
48meningoencephalitis10.1
49paralytic ileus10.1
50auditory agnosia10.1

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

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Drugs for Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1insulinPhase 44069
2Insulin, Globin ZincPhase 44069
3
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol
4idebenonePhase 217
5arginineNutraceuticalPhase 2346
6
Nitric Oxideapproved54010102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
Inomax
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
7pyruvateNutraceutical27

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)CompletedNCT01831934Phase 4
2Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
3L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS SyndromeCompletedNCT01603446Phase 2
4Evaluating the Effectiveness of a Dichloroacetate in MELAS SyndromeActive, not recruitingNCT00068913Phase 2
5Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like EpisodesActive, not recruitingNCT00887562Phase 2
6EPI-743 for Mitochondrial Respiratory Chain DiseasesActive, not recruitingNCT01370447Phase 2
7A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2
8A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
9Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Phase 0
10Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
11Nitric Oxide Production in MELAS SyndromeRecruitingNCT01339494
12Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554
13Tissue Sample Study for Mitochondrial DisordersRecruitingNCT01803906
14North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)RecruitingNCT01694940
15Natural History Study - Mitochondrial DiseaseRecruitingNCT01532791

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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:

33
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 25)
idTitleAuthorsYear
1
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. (25993630)
2015
2
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. (24655600)
2014
3
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
4
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
5
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). (23079769)
2012
6
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (21427669)
2011
7
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. (21656321)
2011
8
Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (20799154)
2010
9
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (19095975)
2009
10
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes in a 69-year-old woman. (18613903)
2008
11
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
12
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
13
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
14
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
15
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
16
A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9875091)
1998
17
Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. (9718939)
1998
18
Cerebrospinal fluid lactate and pyruvate concentrations in patients with Parkinson's disease and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) (9069491)
1997
19
A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. (9622295)
1997
20
An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. (8836506)
1996
21
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
22
Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). (7651935)
1995
23
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
24
Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (7965431)
1994
25
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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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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Pathways related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0GH1, GHRH

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

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Biological processes related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of insulin-like growth factor receptor signaling pathwayGO:00435689.2GH1, GHRH
2positive regulation of multicellular organism growthGO:00400189.0GH1, GHRH

Molecular functions related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.0GH1, GHRH

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet