MELAS
MCID: MLS001
MIFTS: 61

Melas Syndrome (MELAS) malady

Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases categories

Summaries for Melas Syndrome

About this section
Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Genetics Home Reference:21 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a condition that affects many of the body's systems, particularly the brain and nervous system (encephalo-) and muscles (myopathy). The signs and symptoms of this disorder most often appear in childhood following a period of normal development, although they can begin at any age. Early symptoms may include muscle weakness and pain, recurrent headaches, loss of appetite, vomiting, and seizures. Most affected individuals experience stroke-like episodes beginning before age 40. These episodes often involve temporary muscle weakness on one side of the body (hemiparesis), altered consciousness, vision abnormalities, seizures, and severe headaches resembling migraines. Repeated stroke-like episodes can progressively damage the brain, leading to vision loss, problems with movement, and a loss of intellectual function (dementia).

MalaCards: Melas Syndrome, also known as MELAS, is related to lactic acidosis and myopathy, and has symptoms including chronic arterial hypertension, pulmonary thromboembolism and renal glomerular defect/glomerulopathy. An important gene associated with Melas Syndrome is MT-TW (mitochondrially encoded tRNA tryptophan), and among its related pathways are Cardiac muscle contraction and tRNA Aminoacylation. The compounds solium and valine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and skin.

Wikipedia:63 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes – abbreviated to MELAS –... more...

Description from OMIM:46 540000

GeneReviews summary for melas

Aliases & Classifications for Melas Syndrome

About this section
Sources:
8Disease Ontology, 10DISEASES, 48Orphanet, 46OMIM, 60UMLS, 19GeneReviews, 20GeneTests, 56SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

48
melas syndrome:
Inheritance: Mitochondrial inheritance,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

melas syndrome 8 10 48 46 60
melas 19 20
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8
mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes 48
mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes 48
mitochondrial-encephalopathy-lactic acidosis-stroke 19
lactic acidosis,stroke-like episodes; myopathy 19
mitochondrial encephalomyopathies 60
mitochondrial encephalomyopathy 19


External Ids:

Disease Ontology8 DOID:3687
OMIM46 540000
MeSH34 D017241
MESH via Orphanet35 D017241
SNOMED-CT56 39925003, 240097009
ICD10 via Orphanet26 G71.3
SNOMED-CT via Orphanet57 39925003
UMLS via Orphanet61 C0162671

Related Diseases for Melas Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Melas Syndrome family:

Melas, Mt-Nd6-Related Melas, Mt-Nd1-Related
Melas, Mt-Tk-Related Melas, Mt-Ts1-Related
Melas, Mt-Nd5-Related Melas, Mt-Tl1-Related
Melas, Mt-Ts2-Related Melas, Mt-Tf-Related
Melas, Mt-Tq-Related Melas, Mt-Th-Related

Diseases related to Melas Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis30.8MT-ND1, MT-ND5, MT-CO3, NDUFS4, CPOX, MT-ND4
2myopathy30.6NDUFS4, MT-CYB, CPOX
3kearns-sayre syndrome30.6CPOX
4merrf syndrome30.4MT-ND5, MT-TK, CPOX
5parkinson's disease30.3MT-ND5, NDUFS4, MT-ND1, MT-CYB
6diabetes mellitus30.2MT-ND1
7mitochondrial disorders30.1NDUFS4, MT-ND5
8leber hereditary optic neuropathy29.7MT-ND4, NDUFS4, MT-ND6, MT-CO1, MT-ND1, MT-CYB
9diabetic ketoacidosis10.6
10intestinal obstruction10.6
11intestinal pseudo-obstruction10.6
12image syndrome10.5
13mitochondrial encephalomyopathy10.3
14combined oxidative phosphorylation deficiency 610.3
15choroiditis10.2
16hypoparathyroidism10.2
17muscular dystrophy10.2
18ophthalmoplegia10.2
19pancreatitis10.2
20fastkd2-related infantile mitochondrial encephalomyopathy10.2
21cerebritis10.2
22mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.2
23status epilepticus10.1
24sensorineural hearing loss10.1
25encephalitis10.1
26herpes simplex10.1
27hyperthyroidism10.1
28thyroiditis10.1
29merrf/melas overlap syndrome10.1
30atrioventricular block10.1
31pearson syndrome10.1
32focal segmental glomerulosclerosis10.1
33alpers syndrome10.1
34amenorrhea10.1
35primary open angle glaucoma10.1
36fanconi syndrome10.1
37hypertrophic cardiomyopathy10.1
38mutism10.1
39diabetic cataract10.1
40focal glomerulosclerosis10.1
41metabolic acidosis10.1
42vitiligo10.1
43autosomal dominant disease10.1
44autosomal genetic disease10.1
45cataract10.1
46dementia10.1
47glaucoma10.1
48leukodystrophy10.1
49myotonic dystrophy10.1
50open-angle glaucoma10.1

Graphical network of the top 20 diseases related to Melas Syndrome:



Diseases related to melas syndrome

Clinical Features for Melas Syndrome

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

540000

Clinical synopsis from OMIM:

540000

Symptoms:

48 (show all 118)
  • chronic arterial hypertension
  • pulmonary thromboembolism
  • renal glomerular defect/glomerulopathy
  • renal tubular defect/tubulopathy
  • interstitial nephropathy
  • renal failure
  • nephrotic syndrome
  • proteinuria
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • goiter
  • hypothyroidy
  • heart/cardiac failure
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • intestinal transit disorder
  • malabsorption/chronic diarrhea/steatorrhea
  • constipation
  • intestinal obstruction/ileus
  • functional anomalies of the liver and the biliary tract
  • apnea/sleep apnea
  • pulmonary hypertension
  • cardiomyopathy/hypertrophic/dilated
  • aortic dissection
  • aortic dilatation/dilation
  • cardiac rhythm disorder/arrhythmia
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • hyperthyroidy
  • thyroiditis
  • hypoparathyroidy
  • autism/autistic disoders
  • psychosis/schizophrenia/maniac disorder
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • myalgia/muscular pain
  • delayed bone age
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • hematomas
  • metabolic decompensation
  • hypercalciuria
  • fever/chilling
  • elocution disorders/dysarthria/dysphonia
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • cortico-adrenal hypoplasia/insufficiency
  • insulin-dependent/type 1 diabetes
  • late puberty/hypogonadism/hypogenitalism
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • peripheral neuropathy
  • eeg anomalies
  • tremor
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypotonia
  • areflexia/hyporeflexia
  • dilated cerebral ventricles without hydrocephaly
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • central neuropathy
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • nausea/vomiting/regurgitation/merycism/hyperemesis
  • acute abdominal pain/colic
  • pancreatitis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • pollakiuria/polyuria/dysuria/anuria/acute urine retention/oliguria
  • insulin-independent/type 2 diabetes
  • cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • intracranial/cerebral calcifications
  • nerve conduction abnormality
  • ataxia/incoordination/trouble of the equilibrium
  • myoclonus/fasciculations
  • ptosis
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • facial pain/cephalalgia/migraine
  • transient cerebral ischemia/stroke
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • psychic/psychomotor regression/dementia/intellectual decline
  • myopathy
  • muscle weakness/flaccidity
  • abnormal muscle biopsy/muscle enzymes/cpk/ldh/aldolase/creatin phosphokinase
  • abnormal emg/electromyogram/electropmyography
  • organic acid metabolism anomalies
  • respiratory chain /mitochondrial anomalies
  • early death in adulthood
  • asthenia/fatigue/weakness
  • transient amaurosis/acute visual trouble
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • mild visual loss/impaired visual acuity
  • abnormal vep/visual evoked potential
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • thickened/hypertrophic/fibromatous gingivae
  • multiple caries
  • abnormal erosion/resorption of teeth/odontolysis
  • prominent/bat ears
  • arthrogryposis
  • ichthyosis/ichthyosiform dermatitis
  • erythema/erythematous lesions/erythroderma/polymorphous erythema
  • irregular/patchy skin hypopigmentation
  • purpura/petichiae
  • xanthomas/lipomas
  • hirsutism/hypertrichosis/increased body hair
  • night blindness/hemeralopia
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • troubles of memory/amnesia/hypermnesia
  • hyperactivity/attention deficit
  • delirium/hallucination
  • anorexia
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • microcephaly
  • expressionless face/amimia
  • hypertelorism
  • cataract/lens opacification
  • retinitis pigmentosa/retinal pigmentary changes
  • macular dystrophy/absence/hypoplasia of the macula
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia

Drugs & Therapeutics for Melas Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Melas Syndrome

Drug clinical trials:

Search ClinicalTrials for Melas Syndrome

Search NIH Clinical Center for Melas Syndrome

Search CenterWatch for Melas Syndrome

Genetic Tests for Melas Syndrome

About this section
Sources:
20GeneTests
See all sources

Genetic tests related to Melas Syndrome:

id Genetic test Affiliating Genes
1 Melas20

Anatomical Context for Melas Syndrome

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to Melas Syndrome:

32
Brain, Heart, Skin, Thyroid, Liver, Eye, Bone, Cerebellum, Lung, Kidney, Skeletal muscle

Animal Models for Melas Syndrome or affiliated genes

About this section

Publications for Melas Syndrome

About this section
Sources:
50PubMed
See all sources

Articles related to Melas Syndrome:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
MELAS syndrome presenting as an acute surgical abdomen. (24417855)
2014
2
Mitochondria: Role of citrulline and arginine supplementation in MELAS syndrome. (24412347)
2014
3
MELAS syndrome diagnosed in ICU in a 56-year-old patient presenting with status epilepticus. (23536165)
2013
4
MERRF/MELAS overlap syndrome due to the m.3291T>C mutation. (24338029)
2013
5
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. (22747838)
2012
6
Neuraxial anaesthesia in MELAS syndrome. (22165378)
2011
7
Correction of the consequences of mitochondrial 3243A>G mutation in the MT-TL1 gene causing the MELAS syndrome by tRNA import into mitochondria. (21724600)
2011
8
Atypical Strokes in a Young African American Male: A Case of Mitochondrial Encephalopathy Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome. (21789268)
2011
9
Chronic anemia as a manifestation of MELAS syndrome. (21574544)
2011
10
Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-. (20508802)
2010
11
MELAS syndrome, cardiomyopathy, rhabdomyolysis, and autism associated with the A3260G mitochondrial DNA mutation. (20965148)
2010
12
Friedrich Nietzsche (1844-1900): a classical case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome? (19723969)
2009
13
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. (18990125)
2008
14
Anesthetic management of an obstetric patient with MELAS syndrome: case report and literature review. (18691868)
2008
15
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. (17560506)
2007
16
Pregnancy-precipitated status epilepticus: a rare presentation of MELAS syndrome. (17272912)
2007
17
The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. (16734497)
2006
18
High prevalence of the COII/tRNA(Lys) intergenic 9-bp deletion in mitochondrial DNA of Taiwanese patients with MELAS or MERRF syndrome. (15965049)
2005
19
Cochlear implantation in patients with MELAS syndrome. (15841411)
2005
20
Heart transplantation for progressive cardiomyopathy as a manifestation of MELAS syndrome. (16364883)
2005
21
The MELAS syndrome. Review of the literature: the role of the otologist. (14961844)
2004
22
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. (12624137)
2003
23
Rhabdomyolysis in a patient with MELAS syndrome. (12944725)
2003
24
Response to sumatriptan in headache of MELAS syndrome. (12939448)
2003
25
Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome. (14673589)
2003
26
A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy. (11455195)
2001
27
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome. (11781695)
2001
28
Functional mitochondrial heterogeneity in heteroplasmic cells carrying the mitochondrial DNA mutation associated with the MELAS syndrome (mitochondrial encephalopathy, lactic acidosis, and strokelike episodes). (10926287)
2000
29
Cerebral blood flow, vascular response and metabolism in patients with MELAS syndrome--xenon CT and PET study. (10750342)
2000
30
Endocrine disorders in two sisters affected by MELAS syndrome. (11108510)
2000
31
Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome. (10071173)
1999
32
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report. (9822126)
1998
33
Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations. (8837076)
1996
34
MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA. (8836308)
1996
35
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. (7554321)
1995
36
MELAS syndrome: imaging and proton MR spectroscopic findings. (7726067)
1995
37
MELAS syndrome: peripheral neuropathy and cytochrome C-oxidase deficiency: a case report and review of the literature. (7721560)
1995
38
Cerebral metabolism of oxygen and glucose in a patient with MELAS syndrome. (8750117)
1995
39
MELAS: a mitochondrial encephalomyopathy syndrome. (8568343)
1995
40
MELAS syndrome: correlation between clinical features and molecular genetic analysis. (7887136)
1994
41
MELAS syndrome with mitochondrial tRNA(Leu(UUR)) gene mutation in a Chinese family. (8201329)
1994
42
Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. (8259272)
1993
43
Generalized mitochondrial microangiopathy and vascular cytochrome c oxidase deficiency. Occurrence in a case of MELAS syndrome with mitochondrial cardiomyopathy-myopathy and combined complex I/IV deficiency. (8381271)
1993
44
A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I. (1323207)
1992
45
N-isopropyl-p-[123I]iodoamphetamine SPECT in MELAS syndrome: comparison with CT and MR imaging. (1987205)
1991
46
Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome. (2067632)
1991
47
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome. (1922812)
1991
48
Magnetic resonance imaging in MELAS syndrome. (2398945)
1990
49
CT and MR of MELAS syndrome. (3143249)
1988
50
Two cases of NADH-coenzyme Q reductase deficiency: relationship to MELAS syndrome. (3100753)
1987

Genetic Variations for Melas Syndrome

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Melas Syndrome:

62
id Symbol AA change Variation ID SNP ID
1MT-ND1p.Met31ThrVAR_004749
2MT-ND4p.Thr109AlaVAR_004759
3MT-ND5p.Glu145GlyVAR_035425
4MT-ND5p.Asp393AsnVAR_035430
5MT-ND6p.Ala74ValVAR_014397

Expression for genes affiliated with Melas Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Melas Syndrome

Search GEO for disease gene expression data for Melas Syndrome.

Pathways for genes affiliated with Melas Syndrome

About this section
Sources:
29KEGG, 53Reactome, 37NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Melas Syndrome

About this section
Sources:
44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB
See all sources

Compounds related to Melas Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1solium4410.2MT-CO1, MT-ND1
2valine449.8MT-ND5, MT-ND4, MT-ND1, MT-ND6
3N-Formylmethionine119.8MT-CO2, MT-ND1, MT-CO3, MT-CO1
4rofecoxib44 49 28 1112.7CPOX, MT-CO2
5rotenone449.7NDUFS4, MT-ND6, MT-ND1
6glucose449.6CPOX, NDUFS4
7myxothiazol44 1110.6NDUFS4, MT-CYB
8citrinin449.6MT-CYB, NDUFS4
9cholic acid44 28 11 2412.6MT-CO1, MT-CO3, MT-CYB, MT-CO2
10ubiquinone449.5MT-CYB, MT-ND4, NDUFS4
11antimycin a449.5NDUFS4, MT-CYB
12haem449.4CPOX, MT-CYB
13nad+449.3MT-CYB, MT-ND4, NDUFS4
14nad28 2410.3NDUFS4, MT-ND6, MT-ND1, MT-ND4, MT-ND5
15copper44 2410.3MT-CO2, MT-CYB, MT-CO1, CPOX
16heme28 11 2411.2CPOX, MT-CO1, MT-CYB
17citrate448.9NDUFS4, MT-CO2, MT-CO3, MT-CO1, CPOX
18lactate448.8CPOX, MT-ND4, MT-ND1, MT-CO2, NDUFS4
19succinate448.8NDUFS4, MT-ND4, MT-CYB, MT-CO1, CPOX
20threonine448.7NDUFS4, MT-ND1, MT-ND4, MT-CYB, MT-ND5
21hydrogen44 249.6NDUFS4, MT-CO2, MT-CYB, MT-CO1, CPOX
22alanine448.5MT-ND6, MT-ND1, MT-CYB, MT-ND5, CPOX
23oxygen44 249.3NDUFS4, MT-ND6, MT-CO2, MT-CYB, MT-CO1, CPOX
24iron44 249.3NDUFS4, MT-ND6, MT-ND1, MT-ND4, MT-CYB, MT-CO1
25atp44 288.8NDUFS4, MT-CO2, MT-ND1, MT-ND4, MT-CYB, MT-ND5
26nadh44 11 249.6CPOX, NDUFS4, MT-ND6, MT-CO2, MT-ND1, MT-ND4

GO Terms for genes affiliated with Melas Syndrome

About this section

Products for genes affiliated with Melas Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Melas Syndrome

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet