Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MELAS MCID: MTC114 MIFTS: 61	Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
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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 ⁵⁶ ¹²

Melas Syndrome ⁵⁶ ¹² ³⁶ ⁴³ ¹⁵ ⁷¹

Melas ⁵⁶ ⁷⁴ ²⁴ ⁵⁸ ⁷³

Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes Syndrome ⁷³

Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes ³⁹

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes ⁵⁸

Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes ⁵⁸

Characteristics:

Orphanet epidemiological data:

⁵⁸

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:

⁵⁶

Miscellaneous:
variable severity
variable age at onset
the mttl1 c.3243a-g transition is the most common mutation

Inheritance:
mitochondrial

HPO:

³¹

mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes:
Clinical modifier death in early adulthood
Onset and clinical course variable expressivity
Inheritance mitochondrial inheritance

GeneReviews:

²⁴

Penetrance In mtdna-related disorders, penetrance typically depends on mutational load and tissue distribution, which show random variation within families (see causes of phenotypic variability).

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Fetal diseases Rare diseases
Anatomical: Neuronal diseases Eye diseases Ear diseases Muscle diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Diseases of the nervous system

Diseases of myoneural junction and muscle

Primary disorders of muscles

Mitochondrial myopathy, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Rare otorhinolaryngological diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

Disease Ontology ¹² DOID:3687

OMIM ⁵⁶ 540000

KEGG ³⁶ H01347

MeSH ⁴³ D017241

NCIt ⁴⁹ C84885

SNOMED-CT ⁶⁷ 39925003

ICD10 ³² E88.41

MESH via Orphanet ⁴⁴ D017241

ICD10 via Orphanet ³³ G71.3

UMLS via Orphanet ⁷² C0162671

Orphanet ⁵⁸ ORPHA550

MedGen ⁴¹ C0162671

SNOMED-CT via HPO ⁶⁸ 1023001 102968003 103606006 more

UMLS ⁷¹ C0162671

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

OMIM : ⁵⁶ 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)

MalaCards based summary : Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes, also known as melas syndrome, is related to mitochondrial myopathy and lactic acidosis, and has symptoms including myalgia, ophthalmoplegia and hemiparesis. An important gene associated with Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes is MT-ND5 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5), and among its related pathways/superpathways are Aminoacyl-tRNA biosynthesis and Oxidative phosphorylation. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include heart, kidney and thyroid, and related phenotypes are muscle weakness and developmental regression

Disease Ontology : ¹² A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins.

KEGG : ³⁶ MELAS Syndrome (Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes) is a maternally inherited multisystem mitochondrial disorder. This disease is associated with mutations in mitochondrial DNA and a biochemical deficiency of respiratory chain complex I. About 80% of MELAS patients have an A3243G mutation in the MTTL1 gene. Other mutations in MTTL1, other mitochondrial tRNA genes, and the mitochondrial MTND subunit genes of complex I have also been reported to cause MELAS.

UniProtKB/Swiss-Prot : ⁷³ 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.

Wikipedia : ⁷⁴ Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is one of the family of... more...

GeneReviews: NBK1233

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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 330)

#	Related Disease	Score	Top Affiliating Genes
1	mitochondrial myopathy	33.2	MT-TW MT-TT MT-TS1 MT-TL2 MT-TL1 MT-TK
2	lactic acidosis	33.2	MT-TW MT-TV MT-TT MT-TS1 MT-TL2 MT-TL1
3	mitochondrial complex i deficiency, nuclear type 1	32.9	MT-ND6 MT-ND4 MT-ND1 MT-ATP6
4	mitochondrial encephalomyopathy	32.5	MT-TW MT-TS1 MT-TL2 MT-TL1 MT-TK MT-ND6
5	mitochondrial disorders	32.5	MT-TL2 MT-TL1 MT-TK MT-TE MT-ND6 MT-ND5
6	mitochondrial metabolism disease	32.3	MT-TW MT-TL2 MT-TL1 MT-TK MT-TE MT-ND6
7	diabetes and deafness, maternally inherited	32.1	MT-TL1 MT-TK MT-TE
8	leigh syndrome	32.0	MT-TW MT-TV MT-TS1 MT-TL1 MT-TK MT-TI
9	cortical blindness	32.0	MT-ND6 MT-ND5 MT-ND4 MT-ND1
10	chronic progressive external ophthalmoplegia	31.8	MT-TL2 MT-TL1 MT-TK MT-TI MT-TA MT-ND6
11	early myoclonic encephalopathy	31.8	MT-TL1 MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ATP6
12	kearns-sayre syndrome	31.8	MT-TL2 MT-TL1 MT-TK MT-TI MT-ND6 MT-ND5
13	3-methylglutaconic aciduria, type iii	31.7	MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
14	myoclonic epilepsy associated with ragged-red fibers	31.7	MT-TS1 MT-TQ MT-TP MT-TL1 MT-TK MT-TI
15	neuropathy	31.7	MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
16	optic nerve disease	31.6	MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
17	hereditary optic neuropathy	31.6	MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
18	leber optic atrophy	31.5	MT-TS1 MT-TL2 MT-TL1 MT-TK MT-TF MT-TE
19	peripheral nervous system disease	31.5	MT-TK MT-ND6 MT-ND4 MT-ND1 MT-ATP6
20	retinitis pigmentosa	31.1	MT-TW MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ND1
21	epilepsy	31.1	MT-TL1 MT-TK MT-TF MT-ND5 MT-ND4
22	wolff-parkinson-white syndrome	31.0	MT-TL1 MT-ND5 MT-ND4
23	leber optic atrophy and dystonia	31.0	MT-ND6 MT-ND4 MT-ND1
24	muscular disease	30.7	MT-TQ MT-TP MT-TL1 MT-TK MT-ND6 MT-ND4
25	parkinson disease, mitochondrial	30.7	MT-TT MT-TP MT-TK
26	mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes	12.3
27	myopathy	11.3
28	encephalopathy	11.3
29	leigh syndrome, french canadian type	11.2
30	mohr-tranebjaerg syndrome	11.2
31	cranial nerve disease	10.8	MT-TK MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
32	pearson marrow-pancreas syndrome	10.8	MT-TL1 MT-TK MT-ND6 MT-ND4 MT-ATP6
33	mitochondrial dna-related progressive external ophthalmoplegia	10.8	MT-TS1 MT-TN MT-TL2 MT-TL1
34	status epilepticus	10.8
35	deafness, nonsyndromic sensorineural, mitochondrial	10.8	MT-TS1 MT-TI MT-TH MT-ND1
36	mitochondrial myopathy, infantile, transient	10.8	MT-TE MT-ND5 MT-ND1 MT-ATP6
37	parasitic ectoparasitic infectious disease	10.8	MT-TV MT-TQ MT-TI MT-TH MT-ND5
38	mitochondrial non-syndromic sensorineural deafness	10.8	MT-TS1 MT-TH MT-ND4
39	pthirus pubis infestation	10.8	MT-TV MT-TQ MT-TI MT-TH
40	retinitis pigmentosa 12	10.8	MT-TV MT-TN MT-TI MT-TH
41	lice infestation	10.8	MT-TV MT-TQ MT-TI MT-TH
42	thelaziasis	10.8	MT-TN MT-TL2 MT-ND6
43	fasciolopsiasis	10.8	MT-TV MT-TE MT-ND1
44	mitochondrial myopathy, episodic, with or without optic atrophy and reversible leukoencephalopathy	10.8	MT-TW MT-TL2 MT-TA
45	myasthenic syndrome, congenital, 10	10.7	MT-TT MT-TH MT-TF
46	carbuncle	10.7	MT-TT MT-TH MT-TE
47	optic neuritis	10.7	MT-ND6 MT-ND4 MT-ND1
48	hermaphroditism	10.7	MT-TT MT-TH MT-TF
49	coenurosis	10.7	MT-TQ MT-ND1
50	toxic optic neuropathy	10.7	MT-ND6 MT-ND4

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

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Symptoms & Phenotypes for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

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

⁵⁸ ³¹ (show top 50) (show all 132)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	muscle weakness ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001324
2	developmental regression ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002376
3	fatigue ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0012378
4	emg abnormality ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003457
5	generalized tonic-clonic seizures ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002069
6	migraine ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002076
7	increased serum lactate ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002151
8	cerebral ischemia ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002637
9	lactic acidosis ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003128
10	ragged-red muscle fibers ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003200
11	abnormality of mitochondrial metabolism ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003287
12	mitochondrial myopathy ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0003737
13	elevated serum creatine kinase ³¹	hallmark (90%)		HP:0003236
14	nausea and vomiting ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002017
15	clonus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002169
16	ptosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000508
17	depressivity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000716
18	ataxia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001251
19	cerebral calcification ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002514
20	respiratory insufficiency ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002093
21	type ii diabetes mellitus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0005978
22	hallucinations ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000738
23	short stature ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004322
24	cerebral cortical atrophy ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002120
25	sensorineural hearing impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000407
26	reduced consciousness/confusion ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004372
27	abdominal pain ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002027
28	decreased nerve conduction velocity ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000762
29	memory impairment ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002354
30	cachexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004326
31	attention deficit hyperactivity disorder ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007018
32	anxiety ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000739
33	pancreatitis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001733
34	anorexia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002039
35	aplasia/hypoplasia of the cerebellum ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0007360
36	hemianopia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0012377
37	hypertelorism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000316
38	eeg abnormality ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002353
39	dysarthria ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001260
40	tremor ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001337
41	constipation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002019
42	hypothyroidism ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000821
43	hypertension ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000822
44	muscular hypotonia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001252
45	sudden cardiac death ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001645
46	cataract ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000518
47	delayed skeletal maturation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002750
48	gingival overgrowth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000212
49	carious teeth ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000670
50	malabsorption ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002024

Symptoms via clinical synopsis from OMIM:

⁵⁶

Endocrine Features:
diabetes mellitus

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

Metabolic Features:
lactic acidosis

Neurologic Central Nervous System:
dementia
encephalopathy
hemiparesis
stroke-like episodes
grand mal seizures
more

Growth Other:
thin

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

Cardiovascular Vascular:
hypertension

Cardiovascular Heart:
wolff-parkinson-white syndrome
left ventricular hypertrophy
left ventricular dysfunction
cardiac conduction abnormalities
heart failure

Head And Neck Eyes:
ophthalmoplegia
cortical blindness
hemianopsia
bilateral cataracts

Abdomen Gastrointestinal:
episodic vomiting

Head And Neck Ears:
hearing loss, progressive bilateral sensorineural

Clinical features from OMIM:

540000

Symptoms:

¹²

• myalgia

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

ophthalmoplegia, hemiparesis

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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 35)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Vaccines

Phase 4

Immunologic Factors

Phase 4

Idebenone

Approved, Investigational

Phase 2

58186-27-9

Synonyms:

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methyl-1,4-benzoquinone

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methylcyclohexa-2,5-diene-1,4-dione

2-(10-hydroxydecyl)-5,6-dimethoxy-3-methyl-p-benzoquinone

2,3-dimethoxy-5-methyl-6-(10'-hydroxydecyl)-1,4-benzoquinone

6-(10-hydroxydecyl)-2,3-dimethoxy-5-methyl-1,4-benzoquinone

6-(10-hydroxydecyl)-2,3-dimethoxy-5-methyl-p-benzoquinone

idebenona

Idebenone

idébénone

Cysteamine

Approved, Investigational

Phase 2

60-23-1

6058

Synonyms:

(2-Mercaptoethyl)amine

(Mercaptoethyl)ammonium toluene-p-sulphonate

.beta.-Mercaptoethylamine

139720-70-0

156-57-0 (hydrochloride)

16904-32-8 (di-hydrochloride)

1-Amino-2-mercaptoethylamine

2 Aminoethanethiol

27761-19-9 (tartrate (1:1))

2-amino-1-ethanethiol

2-amino-1-Ethanethiol

2-Amino-1-ethanethiol

2-aminoethanethiol

2-amino-ethanethiol

2-amino-ETHANETHIOL

2-Aminoethanethiol

2-AMINO-ETHANETHIOL

2-Aminoethyl mercaptan

2DFDA1F8-7010-4225-8280-AB1C4C43F546

2-Mercaptoethanamine

2-Mercaptoethylamine

2-Mercaptoethylamine, polymer-bound

30070_FLUKA

30070_SIGMA

3037-04-5

3037-04-5 (tosylate)

35S-Labeled cysteamine

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

b-Aminoethanethiol

b-Aminoethylthiol

Becaptan

beta Mercaptoethylamine

beta-aminoethanethiol

beta-Aminoethanethiol

beta-Aminoethylthiol

beta-MEA

beta-Mercaptoethylamine

Bitartrate, cysteamine

b-MEA

b-Mercaptoethylamine

bmse000388

C01678

C2H7NS

C-9500

CASH

CCRIS 3083

CHEBI:17141

CHEMBL602

CID6058

Cisteamina

Cisteamina [Italian]

Cystagon

Cystavision

Cysteamide

Cysteamin

Cysteamine

CYSTEAMINE

Cysteamine (USAN)

Cysteamine [USAN:BAN]

Cysteamine bitartate

cysteamine bitartrate

Cysteamine bitartrate

Cysteamine dihydrochloride

Cysteamine hydrobromide

Cysteamine hydrochloride

Cysteamine maleate (1:1)

Cysteamine tartrate

Cysteamine tartrate (1:1)

Cysteamine tosylate

Cysteamine, 35S labeled

Cysteamine, 35S-labeled

Cysteaminium

Cysteinamine

D03634

DB00847

Decarboxycysteine

Dihydrochloride, cysteamine

DivK1c_006750

EINECS 200-463-0

EINECS 221-235-7

Ethanethiolamine

HSDB 7353

Hydrobromide, cysteamine

Hydrochloride, cysteamine

KBio1_001694

KBio2_002235

KBio2_004803

KBio2_007371

KBioSS_002235

L 1573

L-1573

Lambraten

Lambratene

Lopac-M-6500

LS-65761

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

nchembio.315-comp1

nchembio.316-comp1

NCI60_002000

NSC 647528

NSC647528

Riacon

SpecPlus_000654

Spectrum_001755

STK315355

Tartrate, cysteamine

Thioethanolamine

Tosylate, cysteamine

UNII-5UX2SD1KE2

WR 347

β-aminoethanethiol

β-aminoethylthiol

β-mea

β-MEA

β-mercaptoethylamine

Trace Elements

Phase 2

Micronutrients

Phase 2

Nutrients

Phase 2

Ubiquinone

Phase 2

Arginine

Investigational, Nutraceutical

Phase 2

74-79-3

6322

Synonyms:

(2S)-2-amino-5-(carbamimidamido)Pentanoate

(2S)-2-amino-5-(carbamimidamido)pentanoic acid

(2S)-2-amino-5-(carbamimidamido)Pentanoic acid

(2S)-2-amino-5-Guanidinopentanoate

(2S)-2-amino-5-guanidinopentanoic acid

(2S)-2-amino-5-Guanidinopentanoic acid

(S)-2-amino-5-[(Aminoiminomethyl)amino]pentanoate

(S)-2-amino-5-[(Aminoiminomethyl)amino]-pentanoate

(S)-2-amino-5-[(Aminoiminomethyl)amino]pentanoic acid

(S)-2-amino-5-[(Aminoiminomethyl)amino]-pentanoic acid

(S)-2-amino-5-Guanidinopentanoate

(S)-2-amino-5-guanidinopentanoic acid

(S)-2-amino-5-Guanidinopentanoic acid

(S)-2-amino-5-Guanidinovalerate

(S)-2-amino-5-Guanidinovaleric acid

(S)-2-Amino-5-guanidinovaleric acid

2-amino-5-Guanidinovalerate

2-amino-5-Guanidinovaleric acid

5-[(Aminoiminomethyl)amino]-L-norvaline

Arg

Arginina

Arginine

Arginine hydrochloride

Arginine, L isomer

Arginine, L-isomer

DL Arginine acetate, monohydrate

DL-Arginine acetate, monohydrate

Hydrochloride, arginine

L Arginine

L-(+)-Arginine

L-a-amino-D-Guanidinovalerate

L-a-amino-D-Guanidinovaleric acid

L-alpha-amino-delta-Guanidinovalerate

L-alpha-amino-delta-Guanidinovaleric acid

L-Arg

L-Arginin

L-arginine

L-Isomer arginine

Monohydrate DL-arginine acetate

N5-(Aminoiminomethyl)-L-ornithine

Nitric Oxide

Approved

Phase 1

10102-43-9

145068

Synonyms:

(.)NO

(no)(.)

(NO)(.)

[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

Endogenous Nitrate Vasodilator

Endothelium-derived nitric oxide

Endothelium-Derived Nitric Oxide

endothelium-derived relaxing factor

Endothelium-derived relaxing factor

HNO

HSDB 1246

INOmax

INOmax (TN)

LS-192158

LS-7547

MolPort-003-929-452

Mononitrogen monoxide

Monoxide, mononitrogen

Monoxide, Mononitrogen

Monoxide, nitrogen

Monoxide, Nitrogen

monoxido de nitrogeno

monoxido De nitrogeno

Monóxido de nitrógeno

monoxyde d'azote

Monoxyde d'azote

Nitrate vasodilator, endogenous

Nitrate Vasodilator, Endogenous

nitric oxide

Nitric oxide

Nitric oxide (JAN)

Nitric oxide 10% by volume or more

Nitric oxide trimer

Nitric oxide, compressed [UN1660] [Poison gas]

Nitric oxide, endothelium derived

Nitric Oxide, Endothelium Derived

Nitric oxide, endothelium-derived

Nitric Oxide, Endothelium-Derived

NITRIC-OXIDE

nitrogen monooxide

Nitrogen monooxide

nitrogen monoxide

Nitrogen monoxide

Nitrogen oxide

Nitrogen oxide (NO)

Nitrogen protoxide

nitrosyl

Nitrosyl

Nitrosyl hydride

Nitrosyl hydride ((NO)H)

Nitrosyl radical

Nitroxide radical

Nitroxyl

no(.)

NO(.)

OHM 11771

Oxide, nitric

Oxide, Nitric

oxido de nitrogeno(II)

oxido De nitrogeno(II)

óxido de nitrógeno(II)

oxido nitrico

oxido Nitrico

óxido nítrico

oxidonitrogen(.)

oxoazanyl

oxyde azotique

Oxyde azotique

Oxyde nitrique

Oxyde nitrique [French]

RCRA waste no. P076

Stickmonoxyd

Stickmonoxyd [German]

Stickstoff(II)-oxid

Stickstoffmonoxid

UN 1660

UN1660

UNII-31C4KY9ESH

Vasodilator, endogenous nitrate

Vasodilator, Endogenous Nitrate

Antioxidants

Phase 1

Protective Agents

Phase 1

Neurotransmitter Agents

Phase 1

Respiratory System Agents

Phase 1

Anti-Asthmatic Agents

Phase 1

Autonomic Agents

Phase 1

Free Radical Scavengers

Phase 1

Vasodilator Agents

Phase 1

Bronchodilator Agents

Phase 1

Nicotinamide

Approved, Investigational

98-92-0

936

Synonyms:

.beta.-Pyridinecarboxamide

11032-50-1

123574-63-0

1yc5

3 Pyridinecarboxamide

37321-14-5

3-Carbamoylpyridine

3-pyridinecarboxamide

3-Pyridinecarboxamide

3-Pyridinecarboxylic acid amide

47865U_SUPELCO

55600-01-6

63748-44-7

72340_FLUKA

72340_SIGMA

72347_FLUKA

78731-47-2

98-92-0

A186B02E-6C70-4E54-9739-79398D439AAA

AC1L1ACZ

AC1Q4ZFV

AC-907/25014114

Acid amide

AI3-02906

Amid kyseliny nikotinove

Amid kyseliny nikotinove [Czech]

Amide PP

Aminicotin

Amixicotyn

Amnicotin

Astra brand OF niacinamide

Astra Brand of Niacinamide

Austrovit PP

b 3, Vitamin

B 3, Vitamin

b3, Vitamin

B3, Vitamin

BB_NC-2290

Benicot

beta-Pyridinecarboxamide

bmse000281

b-Pyridinecarboxamide

C00153

C6H6N2O

CCRIS 1901

CHEBI:17154

CHEMBL1140

CID936

CPD000058212

D00036

D009536

DB02701

DEA No. 1405

Delonin amide

Dipegyl

Dipigyl

EINECS 202-713-4

EINECS 234-265-0

Endobion

Enduramide

Factor pp

Factor PP

Hansamid

HMS2052M21

HMS2090B05

HMS2093H03

HSDB 1237

I02-1741

I02-2250

InChI=1/C6H6N2O/c7-6(9)5-2-1-3-8-4-5/h1-4H,(H2,7,9

Inovitan PP

Jenapharm brand OF niacinamide

Jenapharm Brand of Niacinamide

Jenapharm, Nicotinsaureamid

Jenapharm, nicotinsäureamid

LS-2051

m-(Aminocarbonyl)pyridine

Mediatric

Merck brand OF niacinamide

Merck Brand of Niacinamide

MLS000069714

MolMap_000061

MolPort-001-783-876

N0078

N0636_SIGMA

N2142_SIGMA

N3376_SIGMA

N5535_SIAL

NAM

Nandervit-N

NCGC00093354-03

NCGC00093354-04

nchembio.154-comp4

nchembio.73-comp6

Niacevit

Niacin

niacin - Vitamin B3

niacinamide

Niacinamide

Niacinamide (USP)

Niacinamide [USAN]

Niacinamide astra brand

Niacinamide Astra Brand

Niacinamide jenapharm brand

Niacinamide Jenapharm Brand

Niacinamide merck brand

Niacinamide Merck Brand

Niacinamide pharmagenix brand

Niacinamide Pharmagenix Brand

Niacinamide, Nicotinic acid amide, Nicotinamide

Niacotinamide

Niamide

Niavit PP

Nicamide

Nicamina

Nicamindon

Nicasir

Nicobion

Nicofort

Nicogen

Nicomidol

Nicosan 2

Nicosylamide

Nicota

Nicotamide

Nicotilamide

Nicotililamido

Nicotinamid

Nicotinamida

Nicotinamida [INN-Spanish]

nicotinamide

Nicotinamide

Nicotinamide (JP15/INN)

Nicotinamide (Niacinamide)

Nicotinamide, niacin, vitamin B3

Nicotinamide-carbonyl-14C

Nicotinamidum

Nicotinamidum [INN-Latin]

Nicotinate amide

Nicotine acid amide

Nicotine amide

Nicotinic acid amide

Nicotinic amide

Nicotinsaeureamid

Nicotinsaureamid

Nicotinsaureamid [German]

Nicotinsaureamid Jenapharm

Nicotinsäureamid jenapharm

Nicotol

Nicotylamide

Nicotylamidum

Nicovel

Nicovit

Nicovitina

Nicovitol

Nicozymin

Nictoamide

Nikasan

Nikazan

niko-Tamin

Niko-tamin

Nikotinamid

Nikotinsaeureamid

Nikotinsaeureamid [German]

Niocinamide

Niozymin

NSC 13128

NSC13128

NSC27452

Papulex

Pelmin

Pelmine

Pelonin amide

Pharmagenix brand OF niacinamide

Pharmagenix Brand of Niacinamide

PP-Faktor

Propamine a

pyridine-3-carboxamide

Pyridine-3-carboxylic acid amide

S1899_Selleck

SAM001246860

Savacotyl

SGCUT00176

SMR000058212

to_000073

UNII-25X51I8RD4

Vi-nicotyl

Vi-Nicotyl

Vi-noctyl

Vitamin B

Vitamin B (VAN)

Vitamin b 3

Vitamin B 3

Vitamin b3

Vitamin H1

vitamin PP

Vitamin PP

Witamina PP

WLN: T6NJ CVZ

ZINC00005878

β-pyridinecarboxamide

Folic acid

Approved, Nutraceutical, Vet_approved

59-30-3

6037

Synonyms:

(2S)-2-[[4-[(2-amino-4-oxo-1H-pteridin-6-yl)methylamino]benzoyl]amino]pentanedioic acid

01769_FLUKA

2d0k

33609-88-0

36653-55-1 (mono-potassium salt)

59-30-3

6484-89-5 (mono-hydrochloride salt)

AC-11682

AC1L1LNX

Acfol (Spain)

Acide folique

Acide folique [INN-French]

Acido folico

ácido fólico

Acido folico [INN-Spanish]

Acidum folicum

Acidum folicum [INN-Latin]

Acifolic

AI3-26387

AKOS000503224

Antianemia factor

Apo-Folic

ARONIS014410

b9, Vitamin

BIDD:ER0563

BIDD:GT0641

BIF0608

bmse000299

BPBio1_000654

BSPBio_000594

BSPBio_002338

C00504

C20H20N6O6

CAS-59-30-3

CCRIS 666

CHEBI:27470

CHEMBL1622

CID6037

CPD000471860

Cytofol

D00070

DB00158

DivK1c_000494

Dosfolat b activ

Dosfolat B activ

EINECS 200-419-0

F0043

F7876_SIAL

F7876_SIGMA

F8758_SIGMA

F8798_SIAL

F8890_SIGMA

Facid

Factor U

FOL

Folacid

Folacin

Folaemin

Folaemin [Netherlands]

Folan

Folasic (Australia)

Folate

Folbal

Folcidin

Folcidin (VAN)

Folcysteine

Foldine

Foldine [France]

Folettes

Foliamin

Folic

folic acid

Folic acid

Folic acid (JP15/USP/INN)

Folic acid (TN)

Folic acid [BAN:INN:JAN]

Folic acid [INN:BAN:JAN]

Folic acid dihydrate

Folic acid, (D)-isomer

Folic acid, (DL)-isomer

Folic acid, calcium salt (1:1)

Folic acid, monopotassium salt

Folic acid, monosodium salt

Folic acid, potassium salt

Folic acid, sodium salt

Folicet

Folicet (TN)

Folico

Folico (Italy)

Folina

Folina (Italy)

Folipac

Folsaeure

Folsan

Folsaure

Folsäure

Folsav

Folvite

Folvron

Glutamic acid, N-(p-(((2-amino-4-hydroxypyrimido(4,5-b)pyrazin-6-yl)methyl)amino)benzoyl)-, L

HMS1921D20

HMS2092N17

HMS501I16

HSDB 2002

IDI1_000494

Incafolic

InChI=1/C19H19N7O6/c20-19-25-15-14(17(30)26-19)23-11(8-22-15)7-21-10-3-1-9(2-4-10)16(29)24-12(18(31)32)5-6-13(27)28/h1-4,8,12,21H,5-7H2,(H,24,29)(H,27,28)(H,31,32)(H3,20,22,25,26,30)/t12-/m0/s

KBio1_000494

KBio2_001861

KBio2_004429

KBio2_006997

KBio3_001558

KBioGR_002222

KBioSS_001861

Kyselina listova

Kyselina listova [Czech]

Liver lactobacillus casei factor

Liver Lactobacillus casei factor

LS-2157

Millafol

Mission prenatal

Mittafol

MLS001304016

MLS001335861

MolPort-004-285-551

N-(4-(((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzo- yl)-L-glutamic acid

N-(4-((2-Amino-1,4-dihydro-4-oxo-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid

N-(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid

N-(4-{[(2-amino-4-oxo-3,4-dihydropteridin-6-yl)methyl]amino}benzoyl)-L-glutamic acid

N-(p-(((2-Amino-4-hydroxy-6-pteridinyl)methyl)amino)benzoyl)-L-glutamic acid

N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamate

N-[(4-{[(2-amino-4-oxo-1,4-dihydropteridin-6-yl)methyl]amino}phenyl)carbonyl]-L-glutamic acid

N-[4-[[(2-amino-3,4-dihydro-4-oxo-6-Pteridinyl)methyl]amino]benzoyl]-L-glutamic acid

NCGC00016265-01

NCGC00142391-01

nchembio.108-comp10

Nifolin

Nifolin [Denmark]

NINDS_000494

Novofolacid

Novofolacid [Canada]

N-Pteroyl-L-glutamate

N-pteroyl-L-glutamic acid

N-Pteroyl-L-glutamic acid

NSC 3073

PGA

PGA (VAN)

Prestwick_230

Prestwick3_000627

PteGlu

Pteroylglutamate

Pteroylglutamic acid

Pteroyl-L-glutamate

Pteroyl-L-glutamic acid

Pteroyl-L-monoglutamate

Pteroyl-L-monoglutamic acid

Pteroylmonoglutamate

Pteroylmonoglutamic acid

SAM002264616

SDCCGMLS-0066738.P001

Serum Folate Level

SMP2_000137

SMR000471860

SPBio_001357

Spectrum_001381

SPECTRUM1502020

Spectrum2_001459

Spectrum3_000749

Spectrum4_001751

Spectrum5_000602

UNII-935E97BOY8

Usaf cb-13

Vitamin B11

Vitamin b9

Vitamin B9

Vitamin Bc

Vitamin BC

Vitamin be

Vitamin Be

Vitamin m

Vitamin M

Niacin

Approved, Investigational, Nutraceutical

59-67-6

938

Synonyms:

3 Pyridinecarboxylic acid

3-Carboxylpyridine

3-carboxypyridine

3-Carboxypyridine

3-Pyridinecarboxylate

3-Pyridinecarboxylic acid

3-Pyridylcarboxylate

3-Pyridylcarboxylic acid

Acide nicotinique

acido Nicotinico

ácido nicotínico

Acidum nicotinicum

Acidum Nicotinicum

Akotin

Aluminum salt, niacin

anti-pellagra vitamin

Anti-pellagra vitamin

Apelagrin

beta-Pyridinecarboxylate

beta-Pyridinecarboxylic acid

b-Pyridinecarboxylate

b-Pyridinecarboxylic acid

Daskil

Efacin

Enduracin

Hydrochloride, niacin

Induracin

Linic

Lithium nicotinate

m-Pyridinecarboxylate

m-pyridinecarboxylic acid

m-Pyridinecarboxylic acid

Niac

Niacin

Niacin aluminum salt

Niacin ammonium salt

Niacin calcium salt

Niacin cobalt (2+) salt

Niacin copper (2+) salt

Niacin hydrochloride

Niacin iron (2+) salt

Niacin lithium salt

Niacin lithium salt, hemihydrate

Niacin magnesium salt

Niacin manganese (2+) salt

Niacin potassium salt

Niacin sodium salt

Niacin tartrate

Niacin tosylate

Niacin zinc salt

Niacina

Niacine

Niacor

Nicacid

Nicamin

Nicangin

nico 400

nico-400

Nico400

Nicobid

Nicocap

Nicodelmine

Nicolar

Niconacid

Nicosan 3

nico-Span

Nicotinate

Nicotinate, lithium

Nicotinic acid

Nicotinipca

Nicyl

Nikotinsaeure

Nikotinsäure

Nyclin

P.P. factor

Pellagra preventive factor

Pellagrin

Pelonin

Potassium salt, niacin

PP Factor

Pyridine-b-carboxylate

Pyridine-b-carboxylic acid

Pyridine-beta-carboxylate

Pyridine-beta-carboxylic acid

Pyridine-β-carboxylate

pyridine-β-carboxylic acid

Pyridine-β-carboxylic acid

slo-Niacin

Sodium salt, niacin

Tartrate, niacin

Tosylate, niacin

Vitamin b3

Wampocap

β-pyridinecarboxylate

β-pyridinecarboxylic acid

N,N-dimethylarginine

Experimental

30315-93-6

123831

Synonyms:

2-amino-5-(amino-dimethylamino-Methylidene)amino-pentanoate

2-amino-5-(amino-dimethylamino-Methylidene)amino-pentanoic acid

ADMA

Asymmetric dimethylarginine

dimethyl-L-arginine

Dimethyl-L-arginine

guanidino-N,N-dimethylarginine

guanidino-N,N-Dimethylarginine

L-NG,NG-dimethylarginine

N(5)-((dimethylamino)Iminomethyl)-L-ornithine

N(5)-((Dimethylamino)iminomethyl)-L-ornithine

N(g),N(g)-Dimethylarginine

N(G),N(G)-Dimethylarginine

N(g)-Dimethylarginine

N(G)-Dimethylarginine

N(g1),N(g1)-Dimethylarginine

N(G1),N(G1)-Dimethylarginine

N(Omega),N(omega)-dimethyl-L-arginine

N,N-Dimethylarginine

NG,NG-Dimethylarginine

NG,NG-Dimethyl-L-arginine

NG-Dimethylarginine

Nomega,nomega'-dimethyl-L-arginine

pyruvate

Natriuretic Agents

Natriuretic Peptide, Brain

Vitamins

Hypolipidemic Agents

Vitamin B Complex

Vitamin B3

Vitamin B9

Folate

Lipid Regulating Agents

Nicotinic Acids

Antimetabolites

Interventional clinical trials:

(show all 24)

#	Name	Status	NCT ID	Phase	Drugs
1	Metabolic and Immune Responses to TIV in Patients With Mitochondrial Disease	Completed	NCT01831934	Phase 4
2	Investigation of Clinical Syndromes Associated With mtDNA Point Mutations: MELAS/DCA Clinical Trial	Unknown status	NCT00068913	Phase 2	Dichloroacetate
3	A Phase IIa Double-Blind, Randomized, Placebo-Controlled, Dose-Finding Study of Idebenone in the Treatment of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-like Episodes	Completed	NCT00887562	Phase 2	Idebenone;Idebenone
4	An Exploratory, Double-blind, Randomized, Placebo-controlled, Single-center, Two-way Cross-over Study With KH176 in Patients With the Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation and Clinical Signs of Mitochondrial Disease	Completed	NCT02909400	Phase 2	KH176;placebo
5	Pilot Study to Investigate the Efficacy of L-arginine Therapy on Endothelium-dependent Vasodilation & Mitochondrial Metabolism in MELAS Syndrome.	Completed	NCT01603446	Phase 2	L-Arginine
6	A Phase IIb Double-blind, Randomised, Placebo-controlled, Multi-centre, Confirmative Three-way Cross-over Study on Cognitive Function With Two Doses of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation.	Recruiting	NCT04165239	Phase 2	KH176;KH176;Placebo
7	Emergency Use Protocol for EPI-743 in Acutely Ill Patients With Inherited Mitochondrial Respiratory Chain Disease Within 90 Days of End-of-Life Care	Active, not recruiting	NCT01370447	Phase 2	EPI-743
8	A Long-Term Open-Label Extension Study of RP103-MITO-001 to Assess the Safety, Tolerability and Efficacy of Cysteamine Bitartrate Delayed-release Capsules (RP103) for Treatment of Children With Inherited Mitochondrial Disease	Terminated	NCT02473445	Phase 2	Cysteamine Bitartrate
9	A Phase I, Randomized, Double Blind, Placebo-controlled, Dose-escalating Clinical Trial With KH176	Completed	NCT02544217	Phase 1	KH176;placebo
10	A Dose Block-randomized, Double-blind, Placebo-controlled, Single-dose, Dose-escalation, Phase I Clinical Study	Completed	NCT03056209	Phase 1	KL1333 25 mg;KL1333 50 mg;KL1333 100 mg;KL1333 200 mg;KL1333 400 mg;KL1333 600 mg;KL1333 800 mg;Placebo
11	A Phase I, Open-Labeled, Single-Arm, Dose Escalation, Clinical and Pharmacology Study of Dichloroacetate (DCA) in Patients With Recurrent and/or Metastatic Solid Tumours	Completed	NCT00566410	Phase 1	Dichloroacetate
12	A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease	Recruiting	NCT03888716	Phase 1	KL1333;Placebo Oral Tablet
13	Phase-1, Dose Finding and Safety Study on L- Citrulline Treatment of Nitric Oxide Deficiency in MELAS	Not yet recruiting	NCT03952234	Phase 1	L-Citrulline
14	Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan	Unknown status	NCT02114554
15	Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment.	Completed	NCT03213067
16	Arginine Flux and Nitric Oxide Production in Patients With MELAS Syndrome and the Effect of Arginine and Citrulline Supplementation	Completed	NCT01339494	Early Phase 1
17	Study of the Metabolism of Pyruvate and Related Problems in Patients With Lactic Acidemia	Completed	NCT00004353
18	Ketones & Mitochondrial Heteroplasmy	Completed	NCT01252979	Early Phase 1
19	Biomarkers, Hemodynamic and Echocardiographic Predictors of Ischemic Strokes and Their Influence on the Course and Prognosis	Completed	NCT03377465
20	Assessment and Prevalence of Gastrointestinal Dysfunction in Children With Mitochondrial Disorders (MD)	Completed	NCT01137240
21	North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)	Recruiting	NCT01694940
22	The Role of Nicotinamide Riboside in Mitochondrial Biogenesis	Recruiting	NCT03432871
23	Mitochondrial Encephalomyopathies and Mental Retardation: Investigations of Clinical Syndromes Associated With MtDNA Point Mutations	Recruiting	NCT01532791
24	Tissue Study for Mitochondrial Disorders	Enrolling by invitation	NCT01803906

Search NIH Clinical Center for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes

Cochrane evidence based reviews: melas syndrome

Sources

Genetic Tests for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

Sources

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

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

⁴⁰

Heart, Kidney, Thyroid, Brain, Skeletal Muscle, Skin, Eye

Sources

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

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

(show top 50) (show all 814)

#	Title	Authors	PMID	Year
1	An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. ⁶¹ ²⁴ ⁵⁶ ⁶	Ravn K...Schwartz M	11781695	2001
2	Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. ⁶¹ ²⁴ ⁵⁶ ⁶	Bataillard M...Lombes A	11171912	2001
3	A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). ⁶¹ ²⁴ ⁵⁶ ⁶	Goto Y...Horai S	1932147	1991
4	A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. ⁶¹ ²⁴ ⁵⁶ ⁶	Goto Y...Horai S	2102678	1990
5	Mutations of the mitochondrial ND1 gene as a cause of MELAS. ²⁴ ⁵⁶ ⁶	Kirby DM...Taylor RW	15466014	2004
6	Mitochondrial maculopathy: geographic atrophy of the macula in the MELAS associated A to G 3243 mitochondrial DNA point mutation. ⁶¹ ⁵⁶ ⁶	Latkany P...Malkoff MD	10482110	1999
7	Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy. ⁶¹ ⁵⁶ ⁶	Yoneda M...Attardi G	1454794	1992
8	A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. ⁶¹ ⁵⁶ ⁶	Lertrit P...Marzuki S	1323207	1992
9	A specific point mutation in the mitochondrial genome of Caucasians with MELAS. ⁶¹ ⁵⁶ ⁶	Enter C...Gerbitz KD	1684568	1991
10	A point mutation in the mitochondrial tRNA(Leu)(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). ⁶¹ ⁵⁶ ⁶	Kobayashi Y...Ohta S	2268345	1990
11	Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema. ⁶¹ ⁵⁶ ⁶	Danks RA...Byrne E	3395302	1988
12	High risk of severe cardiac adverse events in patients with mitochondrial m.3243A>G mutation. ⁵⁶ ⁶	Malfatti E...Wahbi K	23243073	2013
13	Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation. ⁵⁶ ⁶	Parsons T...Kaufmann P	20697048	2010
14	Efficacy of lamotrigine in disabling myoclonus in a patient with an mtDNA A3243G mutation. ⁵⁶ ⁶	Costello DJ...Sims KB	19349610	2009
15	Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating system. ⁵⁶ ⁶	Janssen AJ...van den Heuvel LP	18306232	2008
16	Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. ⁶¹ ²⁴ ⁶	Majamaa K...Hassinen IE	9683591	1998
17	Nephropathy and growth hormone deficiency in a patient with mitochondrial tRNA(Leu(UUR)) mutation. ⁶¹ ²⁴ ⁶	Yorifuji T...Okuno T	8818955	1996
18	The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke. ⁵⁶ ⁶	Mosewich RK...George D	8442706	1993
19	The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle. ⁵⁶ ⁶	Moraes CT...Schon EA	1315123	1992
20	Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNA-Leu (UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). ⁵⁶ ⁶	Kobayashi Y...Ohta S	1715668	1991
21	Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. ⁵⁶ ⁶	Pavlakis SG...Rowland LP	6093682	1984
22	Prevalence, segregation, and phenotype of the mitochondrial DNA 3243A>G mutation in children. ²⁴ ⁶	Uusimaa J...Majamaa K	17823937	2007
23	Muscle phenotype and mutation load in 51 persons with the 3243A>G mitochondrial DNA mutation. ²⁴ ⁶	Jeppesen TD...Vissing J	17172609	2006
24	Nerve conduction abnormalities in patients with MELAS and the A3243G mutation. ²⁴ ⁵⁶	Kaufmann P...De Vivo DC	16682545	2006
25	Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. ²⁴ ⁶	Naini AB...DiMauro S	15767514	2005
26	Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype. ²⁴ ⁵⁶	Melone MA...Cotrufo R	14967777	2004
27	A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. ²⁴ ⁶	Crimi M...Comi GP	12796552	2003
28	Is the mitochondrial complex I ND5 gene a hot-spot for MELAS causing mutations? ²⁴ ⁶	Liolitsa D...Hanna MG	12509858	2003
29	MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. ²⁴ ⁶	Hanna MG...Wood NW	9771776	1998
30	MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. ²⁴ ⁶	Chinnery PF...Turnbull DM	9798744	1998
31	Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. ²⁴ ⁶	Santorelli FM...DiMauro S	9299505	1997
32	Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy. ²⁴ ⁶	Manfredi G...DiMauro S	8829635	1996
33	The phenotypic spectrum of fifty Czech m.3243A>G carriers. ⁶¹ ⁶	Dvorakova V...Honzik T	27296531	2016
34	A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia. ⁶¹ ⁶	Spruijt L...Hintzen RQ	17562939	2007
35	Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation. ⁶¹ ⁶	Deschauer M...Zierz S	11708999	2001
36	Identification of mtDNA mutation in a pedigree with gestational diabetes, deafness, Wolff-Parkinson-White syndrome and placenta accreta. ⁶¹ ⁶	Aggarwal P...Alcolado JC	11096278	2001
37	Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. ⁶¹ ⁶	Rahman S...Suomalainen A	11085913	2001
38	The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes. ⁶¹ ⁶	Chomyn A...Attardi G	10858457	2000
39	Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF patients. ⁶¹ ⁶	Borner GV...Paabo S	10699170	2000
40	Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness. ⁶¹ ⁶	Deschauer M...Zierz S	10407850	1999
41	Infantile encephalopathy associated with the MELAS A3243G mutation. ⁶¹ ⁶	Sue CM...De Vivo DC	10356136	1999
42	Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. ⁶¹ ⁶	Lam CW...Wong LJ	9243242	1997
43	The expanding clinical phenotype of the tRNA(Leu(UUR)) A-->G mutation at np 3243 of mitochondrial DNA: diabetic embryopathy associated with mitochondrial cytopathy. ⁶¹ ⁶	Feigenbaum A...Nowaczyk MJ	8723072	1996
44	MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. ⁶¹ ⁶	Yang CY...Lee JK	7554321	1995
45	Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation. ⁶¹ ⁶	de Vries D...van Oost B	7931425	1994
46	Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. ⁶¹ ⁶	Matthews PM...Brown GK	8151636	1994
47	Accumulation of mtDNA with a mutation at position 3271 in tRNA(Leu)(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function. ⁶¹ ⁶	Hayashi J...Nonaka I	8280119	1993
48	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation. ⁶¹ ⁵⁶	Goto Y...Nonaka I	1549215	1992
49	MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. ⁶¹ ⁵⁶	Montagna P...Andermann F	3362373	1988
50	Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome. ⁶¹ ²⁴	Garone C...Minczuk M	28973171	2017

Sources

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

Genes related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (24 elite genes):

(show top 50) (show all 107)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MT-ND5	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 5	Protein Coding	1056.65	Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵	15767514 9299505 10589546 (more) 12624137 16306525 20301403 25173338 12509858 12796552 17400793 18332249 14730434 20301411 14520659
2	MT-ND1	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 1	Protein Coding	1056.35	Pathogenic ⁶ Causative germline mutation ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵	20301403 25173338 17562939 (more) 15466014 20301411
3	MT-TL1	Mitochondrially Encoded TRNA-Leu (UUA/G) 1	RNA Gene	758.47	Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	9382149 9109727 8723072 (more) 8818955 8825603 1323207 1360090 8723071 1315123 9222976 11241464 11175302 11587074 9243242 10858457 18674747 18753147 11320187 1284550 16006433 19139304 10699170 11085913 11379873 7473662 15032978 11708999 10514449 11096278 10482110 16336784 10407850 20610441 27296531 9798744 9874606 18306232 7714102 20301403 25173338 1454794 10366077 9465864 18252214 10356136 16326995 15629304 9683591 1932147 11840193 17823937 17018649 1684568 7649539 8151636 16950816 17656376 23243073 7931425 2102678 1715668 8280119 20550934 20697048 9619647 7554321 19349610 8094200 2268345 12905015 8603770 20301411 17564976 8541865 12612863 17172609 8442706
4	MT-TW	Mitochondrially Encoded TRNA-Trp (UGA/G)	RNA Gene	755.64	Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	25173338 20301403 20301411
5	MT-TF	Mitochondrially Encoded TRNA-Phe (UUU/C)	RNA Gene	755.3	Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	1171391 6093682 20301403 (more) 25173338 2102678 9771776 20301411
6	MT-TS1	Mitochondrially Encoded TRNA-Ser (UCN) 1	RNA Gene	755.15	Pathogenic ⁶ Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵	25173338 20301403 20301411
7	MT-ND4	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 4	Protein Coding	665.26	Causative germline mutation ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
8	MT-ND6	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6	Protein Coding	656.84	Causative germline mutation ⁵⁸ Causative variation ⁷³ DISEASES inferred ¹⁵
9	MT-TQ	Mitochondrially Encoded TRNA-Gln (CAA/G)	RNA Gene	428.81	Pathogenic ⁶ Candidate gene tested ⁵⁸ DISEASES inferred ¹⁵	11171912 20301403 25173338 (more) 20301411
10	MT-TH	Mitochondrially Encoded TRNA-His (CAU/C)	RNA Gene	425	Pathogenic ⁶ Candidate gene tested ⁵⁸	25173338 20301403 20301411
11	MT-TK	Mitochondrially Encoded TRNA-Lys (AAA/G)	RNA Gene	408.33	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
12	MT-ATP6	Mitochondrially Encoded ATP Synthase Membrane Subunit 6	Protein Coding	406.49	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
13	MT-TA	Mitochondrially Encoded TRNA-Ala (GCN)	RNA Gene	405.52	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
14	MT-TE	Mitochondrially Encoded TRNA-Glu (GAA/G)	RNA Gene	405.37	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
15	MT-TT	Mitochondrially Encoded TRNA-Thr (ACN)	RNA Gene	404.97	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
16	MT-TI	Mitochondrially Encoded TRNA-Ile (AUU/C)	RNA Gene	404.28	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
17	MT-TL2	Mitochondrially Encoded TRNA-Leu (CUN) 2	RNA Gene	403.72	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
18	MT-TV	Mitochondrially Encoded TRNA-Val (GUN)	RNA Gene	403.68	Pathogenic ⁶ DISEASES inferred ¹⁵	25173338 20301403 20301411
19	MT-TN	Mitochondrially Encoded TRNA-Asn (AAU/C)	RNA Gene	400	Pathogenic ⁶	25173338 20301403 20301411
20	MT-TP	Mitochondrially Encoded TRNA-Pro (CCN)	RNA Gene	400	Pathogenic ⁶	25173338 20301403 20301411
21	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	355.85	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
22	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	355.61	Causative germline mutation ⁵⁸ DISEASES inferred ¹⁵
23	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	30.87	Candidate gene tested ⁵⁸ DISEASES inferred ¹⁵
24	MT-TS2	Mitochondrially Encoded TRNA-Ser (AGU/C) 2	RNA Gene	25	Candidate gene tested ⁵⁸
25	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	8.28	DISEASES inferred ¹⁵ ¹⁵
26	MAPT	Microtubule Associated Protein Tau	Protein Coding	7.94	GeneCards inferred via : Publications (show sections)
27	RPS27A	Ribosomal Protein S27a	Protein Coding	7.94	GeneCards inferred via : Publications (show sections)
28	TRL-AAG2-3	TRNA-Leu (Anticodon AAG) 2-3	RNA Gene	7.94	GeneCards inferred via : Publications (show sections)
29	MIR9-1	MicroRNA 9-1	RNA Gene	7.94	DISEASES inferred ¹⁵ ¹⁵
30	CKAP5	Cytoskeleton Associated Protein 5	Protein Coding	7.82	DISEASES inferred ¹⁵
31	DCAF8	DDB1 And CUL4 Associated Factor 8	Protein Coding	6.89	DISEASES inferred ¹⁵ ¹⁵
32	NPTX2	Neuronal Pentraxin 2	Protein Coding	6.72	DISEASES inferred ¹⁵
33	POLG	DNA Polymerase Gamma, Catalytic Subunit	Protein Coding	6.57	DISEASES inferred ¹⁵
34	MTERF1	Mitochondrial Transcription Termination Factor 1	Protein Coding	6.5	DISEASES inferred ¹⁵
35	TYMP	Thymidine Phosphorylase	Protein Coding	6.48	DISEASES inferred ¹⁵
36	MT-ND3	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 3	Protein Coding	6.46	DISEASES inferred ¹⁵
37	MT-ND2	Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 2	Protein Coding	6.29	DISEASES inferred ¹⁵
38	GTPBP3	GTP Binding Protein 3, Mitochondrial	Protein Coding	6.22	DISEASES inferred ¹⁵
39	MT-CYB	Mitochondrially Encoded Cytochrome B	Protein Coding	5.94	DISEASES inferred ¹⁵
40	LARS2	Leucyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.83	DISEASES inferred ¹⁵
41	DARS2	Aspartyl-TRNA Synthetase 2, Mitochondrial	Protein Coding	5.77	DISEASES inferred ¹⁵
42	ZFYVE21	Zinc Finger FYVE-Type Containing 21	Protein Coding	5.73	DISEASES inferred ¹⁵
43	MTO1	Mitochondrial TRNA Translation Optimization 1	Protein Coding	5.71	DISEASES inferred ¹⁵
44	COQ2	Coenzyme Q2, Polyprenyltransferase	Protein Coding	5.64	DISEASES inferred ¹⁵
45	TWNK	Twinkle MtDNA Helicase	Protein Coding	5.61	DISEASES inferred ¹⁵
46	NDUFA1	NADH:Ubiquinone Oxidoreductase Subunit A1	Protein Coding	5.61	DISEASES inferred ¹⁵
47	TREX1	Three Prime Repair Exonuclease 1	Protein Coding	5.55	DISEASES inferred ¹⁵
48	TRMU	TRNA 5-Methylaminomethyl-2-Thiouridylate Methyltransferase	Protein Coding	5.52	DISEASES inferred ¹⁵
49	COX10	Cytochrome C Oxidase Assembly Factor Heme A:Farnesyltransferase COX10	Protein Coding	5.49	DISEASES inferred ¹⁵
50	OSGEPL1	O-Sialoglycoprotein Endopeptidase Like 1	Protein Coding	5.45	DISEASES inferred ¹⁵

Sources

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

ClinVar genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

⁶ (show top 50) (show all 570) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	MT-ND1	NC_012920.1:m.3481G>A	SNV	Pathogenic	155880	rs587776433	MT:3481-3481	MT:3481-3481
2	MT-ATP6	NC_012920.1:m.8969G>A	SNV	Pathogenic	191364	rs794726857	MT:8969-8969	MT:8969-8969
3	MT-TL1	NC_012920.1:m.3291T>C	SNV	Pathogenic	223247	rs869312463	MT:3291-3291	MT:3291-3291
4	MT-TV	m.1606G>A	SNV	Pathogenic	9548	rs199476143	MT:1606-1606	MT:1606-1606
5	MT-TW	m.5521G>A	SNV	Pathogenic	9556	rs199474673	MT:5521-5521	MT:5521-5521
6	MT-TS1	m.7512T>C	SNV	Pathogenic	9562	rs199474817	MT:7512-7512	MT:7512-7512
7	MT-TS1	NC_012920.1:m.7445A>G	SNV	Pathogenic	9563	rs199474818	MT:7445-7445	MT:7445-7445
8	MT-TS1	m.7511T>C	SNV	Pathogenic	9566	rs199474821	MT:7511-7511	MT:7511-7511
9	MT-TS1	m.7497G>A	SNV	Pathogenic	9569	rs387906419	MT:7497-7497	MT:7497-7497
10	MT-TP	m.15967G>A	SNV	Pathogenic	9572	rs199474701	MT:15967-15967	MT:15967-15967
11	MT-TF	m.583G>A	SNV	Pathogenic	9573	rs118203885	MT:583-583	MT:583-583
12	MT-TF	m.616T>C	SNV	Pathogenic	9576	rs387906420	MT:616-616	MT:616-616
13	MT-TK	m.8344A>G	SNV	Pathogenic	9579	rs118192098	MT:8344-8344	MT:8344-8344
14	MT-TK	m.8356T>C	SNV	Pathogenic	9580	rs118192099	MT:8356-8356	MT:8356-8356
15	MT-TK	m.8363G>A	SNV	Pathogenic	9581	rs118192100	MT:8363-8363	MT:8363-8363
16	MT-TL1	NC_012920.1:m.3243A>G	SNV	Pathogenic	9589	rs199474657	MT:3243-3243	MT:3243-3243
17	MT-TL1	m.3271T>C	SNV	Pathogenic	9590	rs199474658	MT:3271-3271	MT:3271-3271
18	MT-TL1	m.3256C>T	SNV	Pathogenic	9591	rs199474659	MT:3256-3256	MT:3256-3256
19	MT-TL1	m.3303C>T	SNV	Pathogenic	9592	rs199474660	MT:3303-3303	MT:3303-3303
20	MT-TL2	m.12315G>A	SNV	Pathogenic	9586	rs121434462	MT:12315-12315	MT:12315-12315
21	MT-TL1	m.3251A>G	SNV	Pathogenic	9595	rs199474662	MT:3251-3251	MT:3251-3251
22	MT-TL1	m.3260A>G	SNV	Pathogenic	9596	rs199474663	MT:3260-3260	MT:3260-3260
23	MT-TL1	m.3274A>G	SNV	Pathogenic	9598	rs199474666	MT:3274-3274	MT:3274-3274
24	MT-TH	m.12147G>A	SNV	Pathogenic	9610	rs121434474	MT:12147-12147	MT:12147-12147
25	MT-TQ	m.4332G>A	SNV	Pathogenic	9616	rs199476141	MT:4332-4332	MT:4332-4332
26	MT-ND5	m.12770A>G	SNV	Pathogenic	9699	rs267606894	MT:12770-12770	MT:12770-12770
27	MT-ND5	m.13045A>C	SNV	Pathogenic	9700	rs267606895	MT:13045-13045	MT:13045-13045
28	MT-ND5	m.13084A>T	SNV	Pathogenic	9701	rs267606896	MT:13084-13084	MT:13084-13084
29	MT-ND5	m.13513G>A	SNV	Pathogenic	9702	rs267606897	MT:13513-13513	MT:13513-13513
30	MT-ND5	m.13042G>A	SNV	Pathogenic	9703	rs267606898	MT:13042-13042	MT:13042-13042
31	MT-ND1	m.3697G>A	SNV	Pathogenic	9733	rs199476122	MT:3697-3697	MT:3697-3697
32	MT-ND1	m.3946G>A	SNV	Pathogenic	9734	rs199476123	MT:3946-3946	MT:3946-3946
33	MT-ND1	m.3949T>C	SNV	Pathogenic	9735	rs199476124	MT:3949-3949	MT:3949-3949
34	MT-TN	m.5728T>C	SNV	Pathogenic	9622	rs199476132	MT:5728-5728	MT:5728-5728
35	MT-TA	m.5591G>A	SNV	Pathogenic	9625	rs121434458	MT:5591-5591	MT:5591-5591
36	MT-TF	m.586G>A	SNV	Pathogenic	30005	rs387906734	MT:586-586	MT:586-586
37	MT-TS1	m.7471_7472insC	duplication	Pathogenic	42226	rs111033319	MT:7465-7466	MT:7465-7466
38	MT-TL2	NC_012920.1(MT-CYB):m.12276G>A	SNV	Pathogenic	690181		MT:12276-12276	MT:12276-12276
39	MT-TE	NC_012920.1(MT-CYB):m.14710G>A	SNV	Pathogenic	690207		MT:14710-14710	MT:14710-14710
40	MT-TE	NC_012920.1(MT-CYB):m.14739G>A	SNV	Pathogenic	690211		MT:14739-14739	MT:14739-14739
41	MT-TT	NC_012920.1(MT-CYB):m.15915G>A	SNV	Pathogenic	690233		MT:15915-15915	MT:15915-15915
42	MT-TV	NC_012920.1(MT-CYB):m.1644G>A	SNV	Pathogenic	689846		MT:1644-1644	MT:1644-1644
43	MT-TL1	NC_012920.1(MT-CYB):m.3243A>T	SNV	Pathogenic	689856		MT:3243-3243	MT:3243-3243
44	MT-TL1	NC_012920.1(MT-CYB):m.3255G>A	SNV	Pathogenic	689861		MT:3255-3255	MT:3255-3255
45	MT-TL1	NC_012920.1(MT-CYB):m.3302A>G	SNV	Pathogenic	689871		MT:3302-3302	MT:3302-3302
46	MT-TI	NC_012920.1(MT-CYB):m.4298G>A	SNV	Pathogenic	689874		MT:4298-4298	MT:4298-4298
47	MT-TW	NC_012920.1(MT-CYB):m.5536_5537insT	insertion	Pathogenic	689929		MT:5536-5537	MT:5536-5537
48	MT-TW	NC_012920.1(MT-CYB):m.5538G>A	SNV	Pathogenic	689930		MT:5538-5538	MT:5538-5538
49	MT-TW	NC_012920.1(MT-CYB):m.5540G>A	SNV	Pathogenic	689933		MT:5540-5540	MT:5540-5540
50	MT-TW	NC_012920.1(MT-CYB):m.5543T>C	SNV	Pathogenic	689935		MT:5543-5543	MT:5543-5543

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	MT-ND1	p.Met31Thr	VAR_004749	rs201212638
2	MT-ND4	p.Thr109Ala	VAR_004759	rs199476113
3	MT-ND5	p.Glu145Gly	VAR_035425	rs267606894
4	MT-ND5	p.Ala236Thr	VAR_035427	rs267606898
5	MT-ND5	p.Met237Leu	VAR_035428	rs267606895
6	MT-ND5	p.Asp393Asn	VAR_035430	rs267606897
7	MT-ND6	p.Ala74Val	VAR_014397	rs199476107

Sources

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.

Sources

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

Pathways related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to KEGG:

³⁶

#	Name	Kegg Source Accession
1	Aminoacyl-tRNA biosynthesis	hsa00970
2	Oxidative phosphorylation	hsa00190

Pathways related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	GABAergic synapse ³⁶ Show member pathways Morphine addiction ³⁶ Retrograde endocannabinoid signaling ³⁶	11.77	MT-ND6 MT-ND5 MT-ND4 MT-ND1
2	tRNA Aminoacylation ⁶⁵ Show member pathways Aminoacyl-tRNA biosynthesis ³⁶ Cytosolic tRNA aminoacylation ⁶⁵ Mitochondrial tRNA aminoacylation ⁶⁵ Pyrophosphate hydrolysis ⁶⁵ SeMet incorporation into proteins ⁶⁵	11.74	MT-TW MT-TV MT-TT MT-TS1 MT-TQ MT-TP

Sources

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:

#	Name	GO ID	Score	Top Affiliating Genes
1	mitochondrial inner membrane	GO:0005743	9.55	MT-ND6 MT-ND5 MT-ND4 MT-ND1 MT-ATP6
2	mitochondrial membrane	GO:0031966	9.43	MT-ND6 MT-ND4 MT-ND1
3	mitochondrial respiratory chain complex I	GO:0005747	9.13	MT-ND5 MT-ND4 MT-ND1
4	respiratory chain	GO:0070469	8.92	MT-ND6 MT-ND5 MT-ND4 MT-ND1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	aerobic respiration	GO:0009060	9.26	MT-ND4 MT-ND1
2	mitochondrial respiratory chain complex I assembly	GO:0032981	9.26	MT-ND6 MT-ND5 MT-ND4 MT-ND1
3	ATP synthesis coupled electron transport	GO:0042773	9.16	MT-ND5 MT-ND4
4	mitochondrial electron transport, NADH to ubiquinone	GO:0006120	8.92	MT-ND6 MT-ND5 MT-ND4 MT-ND1

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

#	Name	GO ID	Score	Top Affiliating Genes
1	NADH dehydrogenase activity	GO:0003954	9.13	MT-ND5 MT-ND4 MT-ND1
2	NADH dehydrogenase (ubiquinone) activity	GO:0008137	8.92	MT-ND6 MT-ND5 MT-ND4 MT-ND1

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

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⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)

Aliases & Classifications for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

MalaCards integrated aliases for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

GeneReviews:

Classifications:

External Ids:

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

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:

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

Symptoms & Phenotypes for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

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

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Symptoms:

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

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):

Interventional clinical trials:

Cochrane evidence based reviews: melas syndrome

Genetic Tests for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and...

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

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

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

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

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

Genes related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (24 elite genes):

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

ClinVar genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

UniProtKB/Swiss-Prot genetic disease variations for Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes:

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

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

Pathways related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to KEGG:

Pathways related to Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes according to GeneCards Suite gene sharing:

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:

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

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

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