MELAS
MCID: MLS001
MIFTS: 61

Melas Syndrome (MELAS) malady

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

Summaries for Melas Syndrome

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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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 abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim, transient amaurosis/acute visual trouble and early death in adulthood. 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 thyroid.

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

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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

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Sources:
17GeneCards, 18GeneDecks
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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

540000

Clinical synopsis from OMIM:

540000

Symptoms:

48 (show all 118)
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • transient amaurosis/acute visual trouble
  • early death in adulthood
  • respiratory chain /mitochondrial anomalies
  • 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
  • organic acid metabolism anomalies
  • transient cerebral ischemia/stroke
  • 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
  • abnormal erosion/resorption of teeth/odontolysis
  • prominent/bat ears
  • arthrogryposis
  • 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
  • hyperthyroidy
  • goiter
  • purpura/petichiae
  • xanthomas/lipomas
  • intestinal transit disorder
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • functional anomalies of the liver and the biliary tract
  • aortic dissection
  • aortic dilatation/dilation
  • pulmonary thromboembolism
  • renal glomerular defect/glomerulopathy
  • interstitial nephropathy
  • nephrotic syndrome
  • intestinal obstruction/ileus
  • hirsutism/hypertrichosis/increased body hair
  • hypertelorism
  • 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
  • tremor
  • ataxia/incoordination/trouble of the equilibrium
  • 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
  • thickened/hypertrophic/fibromatous gingivae
  • delirium/hallucination
  • 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
  • proteinuria
  • renal tubular defect/tubulopathy
  • 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
  • peripheral neuropathy

Drugs & Therapeutics for Melas Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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

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20GeneTests
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Genetic tests related to Melas Syndrome:

id Genetic test Affiliating Genes
1 Melas20

Anatomical Context for Melas Syndrome

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32MalaCards
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MalaCards organs/tissues related to Melas Syndrome:

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

Animal Models for Melas Syndrome or affiliated genes

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Publications for Melas Syndrome

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50PubMed
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Articles related to Melas Syndrome:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
Multimodal Imaging-Monitored Progression of Stroke-Like Episodes in a Case of MELAS Syndrome. (23603604)
2013
2
Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature. (22909780)
2013
3
Anti-NMDA receptor antibodies in a case of MELAS syndrome. (21898136)
2012
4
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report. (20036095)
2012
5
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. (22325939)
2012
6
Chronic kidney disease, severe arterial and arteriolar sclerosis and kidney neoplasia: on the spectrum of kidney involvement in MELAS syndrome. (22353239)
2012
7
Expanding spectrum of abnormal movements in MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). (23079769)
2012
8
Successful left hemihepatectomy and perioperative management of a patient with biliary cystadenocarcinoma, complicated with MELAS syndrome: report of a case. (20740354)
2010
9
MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes. (20610441)
2010
10
MELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress. (18625001)
2009
11
MELAS syndrome in a patient with a point mutation in MTTS1. (17894844)
2008
12
Retinal atrophy associated with FSGS in a patient with MELAS syndrome. (18591951)
2008
13
A MELAS syndrome family harboring two mutations in mitochondrial genome. (18587274)
2008
14
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases. (18332249)
2008
15
A stroke-like episode in a young patient with MELAS syndrome. (18817095)
2008
16
Pregnancy with mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS syndrome) leading to confusion in the diagnosis of pulmonary embolism. (17896266)
2007
17
Statins provoking MELAS syndrome. A case report. (17389800)
2007
18
Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. (16230801)
2005
19
Resistance to cisatracurium in a patient with MELAS syndrome. (16324037)
2005
20
Post-ictal recovery of anarthria and weakness in MELAS syndrome. (15319559)
2004
21
Moyamoya disease initially mimicking MELAS syndrome in a 14-month-old child. (15335122)
2004
22
MERRF/MELAS overlap syndrome in a family with A3243G mtDNA mutation. (12005255)
2002
23
Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. (12297560)
2002
24
The course of vision disturbances in a patient with the MELAS syndrome. (11859287)
2002
25
Spinal dysraphism associated with congenital heart disorder in a girl with MELAS syndrome and point mutation at mitochondrial DNA nucleotide 3271. (11828557)
2002
26
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. (11171912)
2001
27
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
28
Cochlear implantation in a profoundly deaf patient with MELAS syndrome. (11488279)
2001
29
Glomerulopathy in MELAS syndrome. (11506292)
2001
30
Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome. (10660156)
2000
31
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
32
Familial occurrence of intestinal obstruction in children with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). (9869067)
1998
33
Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation. (9619647)
1998
34
Sensorineural hearing loss in MELAS syndrome--case report. (9780603)
1998
35
Cochlear origin of hearing loss in MELAS syndrome. (9506552)
1998
36
Magnetic resonance imaging with fluid-attenuated inversion recovery pulse sequences in MELAS syndrome. (9028850)
1997
37
Metabolic interventions against complex I deficiency in MELAS syndrome. (9309702)
1997
38
Concomitant administration of sodium dichloroacetate and vitamin B1 for lactic acidemia in children with MELAS syndrome. (9329426)
1997
39
Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome. (8594319)
1996
40
Mitochondrial myopathy-encephalopathy-lactic acidosis-and strokelike episodes (MELAS) syndrome: CT and MR findings in seven children. (8623642)
1996
41
A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. (7669057)
1995
42
Increase of mitochondria in vasa nervorum of cases with mitochondrial myopathy, Kearns-Sayre syndrome, progressive external ophthalmoplegia and MELAS. (8632838)
1995
43
Simvastatin-induced rhabdomyolysis followed by a MELAS syndrome. (8420287)
1993
44
Ophthalmologic manifestations in MELAS syndrome. (8363452)
1993
45
MELAS syndrome masquerading as herpes simplex encephalitis. (8255441)
1993
46
MELAS syndrome: a mitochondrially inherited disorder. (8325731)
1993
47
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
48
MELAS syndrome. Report of two patients, and comparison with data of 24 patients derived from the literature. (1903852)
1991
49
MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. (3362373)
1988
50
MELAS syndrome involving a mother and two children. (3619716)
1987

Genetic Variations for Melas Syndrome

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62UniProtKB/Swiss-Prot
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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

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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29KEGG, 53Reactome, 37NCBI BioSystems Database
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Compounds for genes affiliated with Melas Syndrome

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44Novoseek, 11DrugBank, 49PharmGKB, 28IUPHAR, 24HMDB
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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

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Products for genes affiliated with Melas Syndrome

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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