MCID: MTC023
MIFTS: 28

Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes malady

Category: Rare diseases

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 65
 
Melas 45

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 melas syndrome and lactic acidosis, and has symptoms including acetonaemic vomiting, ophthalmoplegia and hemiparesis. 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, endothelial and pituitary.

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

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


acetonaemic vomiting, ophthalmoplegia, hemiparesis

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 17)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Immunologic FactorsPhase 418483
2VaccinesPhase 46085
3Insulin, Globin ZincPhase 44278
4insulinPhase 44278
5Protective AgentsPhase 2, Phase 05651
6AntioxidantsPhase 2, Phase 02442
7idebenonePhase 219
8arginineNutraceuticalPhase 2, Phase 0364
9
Nitric OxideapprovedPhase 056410102-43-9145068
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
10Peripheral Nervous System AgentsPhase 018510
11Vasodilator AgentsPhase 02926
12Respiratory System AgentsPhase 03931
13Anti-Asthmatic AgentsPhase 02796
14Bronchodilator AgentsPhase 02377
15Endothelium-Dependent Relaxing FactorsPhase 0225
16Neurotransmitter AgentsPhase 014795
17pyruvateNutraceutical30

Interventional clinical trials:

idNameStatusNCT IDPhase
1Responses to Influenza Vaccine in Patients With Mitochondrial Disorders (MELAS)CompletedNCT01831934Phase 4
2L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS SyndromeCompletedNCT01603446Phase 2
3Evaluating the Effectiveness of a Dichloroacetate in MELAS SyndromeActive, not recruitingNCT00068913Phase 2
4Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis & Stroke-like EpisodesActive, not recruitingNCT00887562Phase 2
5A Dose-escalating Clinical Trial With KH176CompletedNCT02544217Phase 1
6Nitric Oxide Production in MELAS SyndromeCompletedNCT01339494Phase 0
7Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic AcidemiaCompletedNCT00004353
8Ketones & Mitochondrial HeteroplasmyCompletedNCT01252979Phase 0
9Mitochondrial nt3243 A>G Mutation in TaiwanRecruitingNCT02114554

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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, Endothelial, Pituitary, Lung, Breast, Prostate, Myeloid

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 27)
idTitleAuthorsYear
1
Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes (MELAS): A Case Report and Critical Reappraisal of Treatment Options. (26797286)
2016
2
Sigmoid volvulus in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a rare occurrence. (26935953)
2016
3
L-Arginine Affects Aerobic Capacity and Muscle Metabolism in MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes) Syndrome. (25993630)
2015
4
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode leading to recurrent superior mesenteric artery syndrome. (24655600)
2014
5
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
6
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
7
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). (23079769)
2012
8
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (21427669)
2011
9
Anesthetic considerations in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case series. (21656321)
2011
10
Disruption of endothelial tight junctions in a patient with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). (20799154)
2010
11
Serial diffusion imaging in a case of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. (19095975)
2009
12
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes in a 69-year-old woman. (18613903)
2008
13
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
14
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
15
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
16
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
17
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
18
A follow up study of myocardial involvement in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9875091)
1998
19
Ileus in mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes. (9718939)
1998
20
Cerebrospinal fluid lactate and pyruvate concentrations in patients with Parkinson's disease and mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) (9069491)
1997
21
A case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes associated with diabetes mellitus and hypothalamo-pituitary dysfunction. (9622295)
1997
22
An autopsy case of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) with a point mutation of mitochondrial DNA. (8836506)
1996
23
Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis. (16696023)
1995
24
Severe mitochondrial cardiomyopathy and extra-neuromuscular abnormalities in mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS). (7651935)
1995
25
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
26
Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (7965431)
1994
27
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 pathwaysScoreTop 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 multicellular organism growthGO:00400189.0GH1, 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