MELAS
MCID: MLS001
MIFTS: 50

Melas Syndrome (MELAS) malady

Neuronal, Eye, Ear, Metabolic, Fetal categories

Summaries for Melas Syndrome

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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 mitochondrial disorders and merrf syndrome, and has symptoms including hypertelorism, cortical atrophy without hydrocephaly/cerebral hemiatrophy/subcortical atrophy and nausea/vomiting/regurgitation/merycism/hyperemesis. 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 skin, brain and kidney.

Wikipedia:64 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes – abbreviated to MELAS –... more...

Description from OMIM:47 540000

GeneReviews summary for melas

Aliases & Classifications for Melas Syndrome

Sources:
8Disease Ontology, 19GeneReviews, 20GeneTests, 10DISEASES, 49Orphanet, 47OMIM, 61UMLS, 57SNOMED-CT, 35MeSH, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal, Eye, Ear, Metabolic


Characteristics (Orphanet epidemiological data):

49
melas syndrome:
Inheritance: Mitochondrial inheritance,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

melas syndrome 8 10 49 47 61
melas 19 20
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 8
mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes 49
mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes 49
mitochondrial-encephalopathy-lactic acidosis-stroke 19
lactic acidosis,stroke-like episodes; myopathy 19
mitochondrial encephalomyopathies 61
mitochondrial encephalomyopathy 19


External Ids:

Disease Ontology8 DOID:3687
OMIM47 540000
MeSH35 D017241
MESH via Orphanet36 D017241
SNOMED-CT57 39925003, 240097009
ICD10 via Orphanet26 G71.3
SNOMED-CT via Orphanet58 39925003
UMLS via Orphanet62 C0162671

Related Diseases for Melas Syndrome

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 96)
idRelated DiseaseScoreTop Affiliating Genes
1mitochondrial disorders30.6MT-ND5, NDUFS4
2merrf syndrome30.4CPOX, MT-TK, MT-ND5
3leigh disease30.1NDUFS4, MT-ND4, MT-ND5
4kearns-sayre syndrome30.0CPOX
5mitochondrial complex i deficiency29.8MT-ND6, MT-ND5
6leber hereditary optic neuropathy29.8MT-ND6, MT-ND1, MT-ND4, MT-CYB, MT-ND5, MT-CO3
7parkinson's disease29.8MT-ND5, MT-CYB, MT-ND1, NDUFS4
8acanthocytosis10.6
9growth hormone deficiency10.6
10chronic intestinal failure10.6
11n syndrome10.6
12merrf/melas overlap syndrome10.4
13encephalomyopathy10.3
14combined oxidative phosphorylation deficiency 610.3
153-m syndrome10.3
16hypoparathyroidism10.2
17sleep apnea10.2
18fastkd2-related infantile mitochondrial encephalomyopathy10.2
19ramsay-hunt syndrome10.2
20mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.2
21mitochondrial cardiomyopathy10.2
22status epilepticus10.1
23sensorineural hearing loss10.1
24young syndrome10.1
25herpes simplex encephalitis10.1
26atrioventricular block10.1
27pearson syndrome10.1
28focal segmental glomerulosclerosis10.1
29alpers syndrome10.1
30myoclonic cerebellar dyssynergia10.1
31amenorrhea10.1
32primary open angle glaucoma10.1
33mu chain disease10.1
34fanconi syndrome10.1
35mutism10.1
36focal glomerulosclerosis10.1
37autosomal dominant disease10.1
38autosomal genetic disease10.1
39acetyl-carnitine deficiency10.1
40toni-fanconi syndrome10.1
41fatal infantile encephalomyopathy10.1
42mental retardation10.1
43septic shock10.1
44mitochondrial dna depletion syndrome 510.1
45paralytic ileus10.0
46say syndrome10.0
47melas, mt-nd6-related10.0
48melas, mt-nd1-related10.0
49melas, mt-tk-related10.0
50melas, mt-ts1-related10.0

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



Diseases related to melas syndrome

Clinical Features for Melas Syndrome

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

540000

Clinical synopsis from OMIM:

540000

Symptoms:

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

Drugs & Therapeutics for Melas Syndrome

Sources:
5CenterWatch, 42NIH 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

Sources:
20GeneTests
See all sources

Genetic tests related to Melas Syndrome:

id Genetic test Affiliating Genes
1 Melas20

Anatomical Context for Melas Syndrome

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Melas Syndrome:

33
Skin, Brain, Kidney, Heart, Skeletal muscle, Thyroid

Animal Models for Melas Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Melas Syndrome

Sources:
51PubMed
See all sources

Articles related to Melas Syndrome:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
2
A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome with Intracardiac Thrombus [corrected]. (23613701)
2013
3
CT and MRI imaging of the brain in MELAS syndrome. (24115962)
2013
4
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome. (23324391)
2013
5
Multimodal Imaging-Monitored Progression of Stroke-Like Episodes in a Case of MELAS Syndrome. (23603604)
2013
6
Anti-NMDA receptor antibodies in a case of MELAS syndrome. (21898136)
2012
7
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. (22325939)
2012
8
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome. (22353239)
2012
9
MELAS syndrome in an Indigenous Australian woman. (22107001)
2011
10
Regression ofA stroke-like lesions inA MELAS-syndrome after seizure control. (21059492)
2010
11
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. (20610441)
2010
12
MELAS syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions. (20655066)
2010
13
MELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress. (18625001)
2009
14
MELAS syndrome in a patient with a point mutation in MTTS1. (17894844)
2008
15
Retinal atrophy associated with FSGS in a patient with MELAS syndrome. (18591951)
2008
16
A MELAS syndrome family harboring two mutations in mitochondrial genome. (18587274)
2008
17
A stroke-like episode in a young patient with MELAS syndrome. (18817095)
2008
18
Wolff-Parkinson-White syndrome in Patients With MELAS. (17998445)
2007
19
Mitochondrial encephalopathy, lactic acidosis and stroke-like syndrome (MELAS): a case report, presentation, and management. (17269531)
2007
20
FDG-PET imaging in the investigation of homonymous hemianopia in a patient with MELAS syndrome. (17515762)
2007
21
Pregnancy with mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS syndrome) leading to confusion in the diagnosis of pulmonary embolism. (17896266)
2007
22
Resistance to cisatracurium in a patient with MELAS syndrome. (16324037)
2005
23
Post-ictal recovery of anarthria and weakness in MELAS syndrome. (15319559)
2004
24
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome. (12796552)
2003
25
Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. (12297560)
2002
26
Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation). (12444382)
2002
27
Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). (11241464)
2001
28
Analysis of a polycytosine tract and heteroplasmic length variation in the mitochondrial DNA D-loop of patients with diabetes, MELAS syndrome and race-matched controls. (11472454)
2001
29
Spinal anesthesia in MELAS syndrome: a case with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes. (11000676)
2000
30
Increased prevalence of vitiligo, but no evidence of premature ageing, in the skin of patients with bp 3243 mutation in mitochondrial DNA in the mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome (MELAS). (10233312)
1999
31
Successful cochlear implantation in a patient with MELAS syndrome. (10100521)
1999
32
Melas syndrome. (10798118)
1999
33
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
34
Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report. (9884447)
1998
35
Sensorineural hearing loss in MELAS syndrome. (9156069)
1997
36
Metabolic interventions against complex I deficiency in MELAS syndrome. (9309702)
1997
37
Anesthetic considerations in patients presenting with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. (9390617)
1997
38
Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. (9329426)
1997
39
Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA. (8559168)
1996
40
Cerebral hyperperfusion antedates by years strokelike episodes in the MELAS syndrome. (8571438)
1996
41
A novel combination of mitochondrial tRNA and ND1 gene mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus. (8723687)
1996
42
Acute renal failure and the MELAS syndrome, a mitochondrial encephalomyopathy. (8738797)
1996
43
Random mitotic segregation of mitochondrial DNA in MELAS syndrome. (8741143)
1996
44
Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. (8623642)
1996
45
MELAS syndrome. (7483605)
1995
46
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. (7669057)
1995
47
Ophthalmologic manifestations in MELAS syndrome. (8363452)
1993
48
A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNA(Lys) gene. (8069654)
1993
49
Noninvasive diagnosis of the MELAS syndrome from blood DNA. (8517674)
1993
50
MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin. (1436526)
1992

Genetic Variations for Melas Syndrome

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Melas Syndrome:

63
id Symbol AA change Variation 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

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

Sources:
30KEGG, 54Reactome, 38NCBI BioSystems Database
See all sources

Compounds for genes affiliated with Melas Syndrome

Sources:
45Novoseek, 11DrugBank, 50PharmGKB, 29IUPHAR, 24HMDB
See all sources

Compounds related to Melas Syndrome according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1solium4510.2MT-CO1, MT-ND1
2valine459.8MT-ND5, MT-ND4, MT-ND1, MT-ND6
3N-Formylmethionine119.8MT-CO2, MT-ND1, MT-CO3, MT-CO1
4rofecoxib45 50 29 1112.7CPOX, MT-CO2
5rotenone459.7NDUFS4, MT-ND6, MT-ND1
6glucose459.6CPOX, NDUFS4
7myxothiazol45 1110.6NDUFS4, MT-CYB
8citrinin459.6MT-CYB, NDUFS4
9cholic acid45 29 11 2412.6MT-CO1, MT-CO3, MT-CYB, MT-CO2
10ubiquinone459.5MT-CYB, MT-ND4, NDUFS4
11antimycin a459.5NDUFS4, MT-CYB
12haem459.4CPOX, MT-CYB
13nad+459.3MT-CYB, MT-ND4, NDUFS4
14nad29 2410.3NDUFS4, MT-ND6, MT-ND1, MT-ND4, MT-ND5
15copper45 2410.3MT-CO2, MT-CYB, MT-CO1, CPOX
16heme29 11 2411.2CPOX, MT-CO1, MT-CYB
17citrate458.9NDUFS4, MT-CO2, MT-CO3, MT-CO1, CPOX
18lactate458.8CPOX, MT-ND4, MT-ND1, MT-CO2, NDUFS4
19succinate458.8NDUFS4, MT-ND4, MT-CYB, MT-CO1, CPOX
20threonine458.7NDUFS4, MT-ND1, MT-ND4, MT-CYB, MT-ND5
21hydrogen45 249.6NDUFS4, MT-CO2, MT-CYB, MT-CO1, CPOX
22alanine458.5MT-ND6, MT-ND1, MT-CYB, MT-ND5, CPOX
23oxygen45 249.3NDUFS4, MT-ND6, MT-CO2, MT-CYB, MT-CO1, CPOX
24iron45 249.3NDUFS4, MT-ND6, MT-ND1, MT-ND4, MT-CYB, MT-CO1
25atp45 298.8NDUFS4, MT-CO2, MT-ND1, MT-ND4, MT-CYB, MT-ND5
26nadh45 11 249.6CPOX, NDUFS4, MT-ND6, MT-CO2, MT-ND1, MT-ND4

GO Terms for genes affiliated with Melas Syndrome

Products for genes affiliated with Melas Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Melas Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet