MCID: MTC023
MIFTS: 20

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 phenylketonuria. 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, lung and myeloid.

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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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, Lung, Myeloid, Breast, 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
Late Sequel of Meningococcemia: Skeletal Dysplasia. (26960252)
2016
2
Associated factors and psychotherapy on sleep disturbances in systemic lupus erythematosus. (24080701)
2013
3
Efficacy of omega-3 fatty acids in the treatment of borderline personality disorder: A study of the association with valproic acid. (24196948)
2013
4
Percutaneous cryoablation of metastatic lesions from non-small-cell lung carcinoma: initial survival, local control, and cost observations. (22626267)
2012
5
Cognitive therapy versus fluvoxamine as a second-step treatment in obsessive-compulsive disorder nonresponsive to first-step behavior therapy. (22964609)
2012
6
Male infertility and its causes in human. (22046184)
2012
7
Systemic mastocytosis associated with t(8;21) acute myeloid leukemia in a child: detection of the D816A mutation of KIT. (22847983)
2012
8
Pityriasis rosea showing unilateral localization. (21352292)
2011
9
Autoimmune pancreatitis. A rare cause of cholestasis. (20188640)
2011
10
NCAM in neuropsychiatric and neurodegenerative disorders. (20017030)
2010
11
Use of a vacuum-assisted device in a neonate with a giant omphalocele. (20505420)
2010
12
Scutellarin isolated from Erigeron multiradiatus inhibits high glucose-mediated vascular inflammation. (18758143)
2008
13
Ticks and tick paralysis: imaging findings on cranial MR. (15448946)
2005
14
Expression and cellular localization of vascular endothelial growth factor A and its receptors in acute and chronic leukemias: an immunohistochemical study. (16084950)
2005
15
Infantile bilateral striatal necrosis maps to chromosome 19q. (14718703)
2004
16
An MRI study of superior temporal gyrus volume in women with schizotypal personality disorder. (14638590)
2003
17
Congenital urethral obstruction, bilateral hydronephrosis and uroperitoneum in a lamb. (12739604)
2003
18
Centrosomal proteins CG-NAP and kendrin provide microtubule nucleation sites by anchoring gamma-tubulin ring complex. (12221128)
2002
19
Relationships of TP53 codon 72 and HRAS1 polymorphisms with lung cancer risk in an ethnically diverse population. (11097227)
2000
20
Functional role of caspase-1 and caspase-3 in an ALS transgenic mouse model. (10764647)
2000
21
Prothrombotic abnormalities in children with venous thromboembolism. (10695825)
2000
22
Steroid receptors in hereditary breast carcinomas associated with BRCA1 or BRCA2 mutations or unknown susceptibility genes. (9669814)
1998
23
Collagenous colitis associated with rheumatoid arthritis and anticardiolipin antibodies. (9586689)
1998
24
Autoimmunity and circulating immune complexes in retinal vasculitis. (6985101)
1981
25
Treatment of acute hepatic porphyria. (76940)
1978

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