MELAS
MCID: MLS001
MIFTS: 60

Melas Syndrome (MELAS) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Metabolic diseases, Fetal diseases, Rare diseases, Muscle diseases categories
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Summaries for Melas Syndrome

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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 based summary: Melas Syndrome, also known as MELAS, is related to lactic acidosis and kearns-sayre syndrome, and has symptoms including central neuropathy, facial pain/cephalalgia/migraine and transient cerebral ischemia/stroke. An important gene associated with Melas Syndrome is MT-ND6 (mitochondrially encoded NADH dehydrogenase 6), and among its related pathways are Cardiac muscle contraction and Alzheimer's disease. The compounds solium and isoleucine have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and thyroid.

Wikipedia:65 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? abbreviated to MELAS ? is... more...

Description from OMIM:46 540000

GeneReviews summary for melas

Aliases & Classifications for Melas Syndrome

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Sources:
8Disease Ontology, 10DISEASES, 62UMLS, 19GeneReviews, 20GeneTests, 48Orphanet, 46OMIM, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Melas Syndrome, Aliases & Descriptions:

Name: Melas Syndrome 8 10 62
Melas 19 20 48 46
Mitochondrial Encephalomyopathy 19 62
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


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:3687
MeSH34 D017241
OMIM46 540000
SNOMED-CT57 240097009, 39925003
MESH via Orphanet35 D017241
ICD10 via Orphanet26 G71.3
UMLS via Orphanet63 C0162671

Related Diseases for Melas Syndrome

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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 110)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.6MT-ND5
2kearns-sayre syndrome31.4CPOX
3mitochondrial disorders31.0MT-ND5, NDUFS4
4parkinson's disease30.6NDUFS4, MT-ND5, MT-ND1
5merrf syndrome30.4CPOX, MT-ND5
6leber hereditary optic neuropathy29.8MT-ND4, MT-ND1, MT-CO3, MT-ND6, MT-ND5
7intestinal pseudo-obstruction10.6
8acanthocytosis10.6
9growth hormone deficiency10.6
10myopathy10.5
11merrf/melas overlap syndrome10.4
12mitochondrial encephalomyopathy10.4
13encephalomyopathy10.4
14mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.4
15combined oxidative phosphorylation deficiency 610.4
16myoclonus10.4
17leber hereditary optic neuropathy with dystonia10.3MT-ND4, MT-ND6
18choroiditis10.3
19hypoparathyroidism10.3
20muscular dystrophy10.3
21ophthalmoplegia10.3
22pancreatitis10.3
23sleep apnea10.3
24aminoacidopathies10.3
25fastkd2-related infantile mitochondrial encephalomyopathy10.3
26ramsay-hunt syndrome10.3
27cerebritis10.3
28early myoclonic encephalopathy10.3MT-ND5, NDUFS4
29mitochondrial complex i deficiency10.2MT-ND5, MT-ND6
30optic nerve disease10.2MT-ND4, MT-ND6
31diabetes mellitus10.2
32status epilepticus10.2
33sensorineural hearing loss10.2
34encephalitis10.2
35herpes simplex10.2
36hyperthyroidism10.2
37thyroiditis10.2
38herpes simplex encephalitis10.2
39brain disease10.1NDUFS4, MT-ND5, CPOX, TPO
40cataract10.1
41cerebral hemorrhage10.1
42focal segmental glomerulosclerosis10.1
43pearson syndrome10.1
44primary open angle glaucoma10.1
45vitiligo10.1
46fanconi syndrome10.1
47amenorrhea10.1
48hypertrophic cardiomyopathy10.1
49mutism10.1
50superior mesenteric artery syndrome10.1

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



Diseases related to melas syndrome

Symptoms for Melas Syndrome

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Symptoms by clinical synopsis from OMIM:

540000

Clinical features from OMIM:

540000

Symptoms:

48 (show all 118)
  • central neuropathy
  • 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
  • abnormal visual field/hemianopsia/hemianopia/scotoma/visual peripheral rim
  • ptosis
  • 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
  • obnubilation/coma/lethargia/desorientation
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • 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
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • night blindness/hemeralopia
  • 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
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • 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
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • heart/cardiac failure
  • 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
  • hyperthyroidy
  • thyroiditis
  • hypoparathyroidy
  • cortico-adrenal hypoplasia/insufficiency
  • insulin-dependent/type 1 diabetes
  • late puberty/hypogonadism/hypogenitalism
  • dilated cerebral ventricles without hydrocephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • peripheral neuropathy
  • eeg anomalies
  • tremor
  • dystonia/torticollis/writer's cramp/blepharospasms
  • hypotonia
  • areflexia/hyporeflexia
  • paresthesia/dysesthesia/hypoesthesia/anesthesia/numbness
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • elocution disorders/dysarthria/dysphonia
  • 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

HPO human phenotypes related to Melas Syndrome:

(show all 112)
id Description Frequency HPO Source Accession
1 seizures hallmark (90%) HP:0001250
2 muscle weakness hallmark (90%) HP:0001324
3 migraine hallmark (90%) HP:0002076
4 developmental regression hallmark (90%) HP:0002376
5 cerebral ischemia hallmark (90%) HP:0002637
6 myopathy hallmark (90%) HP:0003198
7 abnormality of mitochondrial metabolism hallmark (90%) HP:0003287
8 emg abnormality hallmark (90%) HP:0003457
9 hemiplegia/hemiparesis hallmark (90%) HP:0004374
10 sensorineural hearing impairment typical (50%) HP:0000407
11 ptosis typical (50%) HP:0000508
12 hallucinations typical (50%) HP:0000738
13 decreased nerve conduction velocity typical (50%) HP:0000762
14 visual field defect typical (50%) HP:0001123
15 pancreatitis typical (50%) HP:0001733
16 nausea and vomiting typical (50%) HP:0002017
17 abdominal pain typical (50%) HP:0002027
18 anorexia typical (50%) HP:0002039
19 respiratory insufficiency typical (50%) HP:0002093
20 cerebral cortical atrophy typical (50%) HP:0002120
21 incoordination typical (50%) HP:0002311
22 memory impairment typical (50%) HP:0002354
23 cerebral calcification typical (50%) HP:0002514
24 involuntary movements typical (50%) HP:0004305
25 short stature typical (50%) HP:0004322
26 decreased body weight typical (50%) HP:0004325
27 reduced consciousness/confusion typical (50%) HP:0004372
28 type ii diabetes mellitus typical (50%) HP:0005978
29 attention deficit hyperactivity disorder typical (50%) HP:0007018
30 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
31 amaurosis fugax typical (50%) HP:0100576
32 abnormality of the genital system occasional (7.5%) HP:0000078
33 renal insufficiency occasional (7.5%) HP:0000083
34 abnormality of the renal tubule occasional (7.5%) HP:0000091
35 proteinuria occasional (7.5%) HP:0000093
36 nephrotic syndrome occasional (7.5%) HP:0000100
37 gingival overgrowth occasional (7.5%) HP:0000212
38 microcephaly occasional (7.5%) HP:0000252
39 mask-like facies occasional (7.5%) HP:0000298
40 hypertelorism occasional (7.5%) HP:0000316
41 abnormality of the pinna occasional (7.5%) HP:0000377
42 cataract occasional (7.5%) HP:0000518
43 ophthalmoparesis occasional (7.5%) HP:0000597
44 optic atrophy occasional (7.5%) HP:0000648
45 abnormality of vision evoked potentials occasional (7.5%) HP:0000649
46 night blindness occasional (7.5%) HP:0000662
47 carious teeth occasional (7.5%) HP:0000670
48 autism occasional (7.5%) HP:0000717
49 hypothyroidism occasional (7.5%) HP:0000821
50 hypertension occasional (7.5%) HP:0000822
51 hypoparathyroidism occasional (7.5%) HP:0000829
52 anterior hypopituitarism occasional (7.5%) HP:0000830
53 hyperthyroidism occasional (7.5%) HP:0000836
54 goiter occasional (7.5%) HP:0000853
55 hypertrichosis occasional (7.5%) HP:0000998
56 multiple lipomas occasional (7.5%) HP:0001012
57 hypopigmented skin patches occasional (7.5%) HP:0001053
58 abnormality of the macula occasional (7.5%) HP:0001103
59 muscular hypotonia occasional (7.5%) HP:0001252
60 reduced tendon reflexes occasional (7.5%) HP:0001315
61 tremor occasional (7.5%) HP:0001337
62 abnormality of the liver occasional (7.5%) HP:0001392
63 congestive heart failure occasional (7.5%) HP:0001635
64 hypertrophic cardiomyopathy occasional (7.5%) HP:0001639
65 sudden cardiac death occasional (7.5%) HP:0001645
66 aortic dilatation occasional (7.5%) HP:0001724
67 constipation occasional (7.5%) HP:0002019
68 malabsorption occasional (7.5%) HP:0002024
69 pulmonary hypertension occasional (7.5%) HP:0002092
70 apnea occasional (7.5%) HP:0002104
71 ventriculomegaly occasional (7.5%) HP:0002119
72 hypercalciuria occasional (7.5%) HP:0002150
73 neurological speech impairment occasional (7.5%) HP:0002167
74 pulmonary embolism occasional (7.5%) HP:0002204
75 abnormality of neuronal migration occasional (7.5%) HP:0002269
76 eeg abnormality occasional (7.5%) HP:0002353
77 aortic dissection occasional (7.5%) HP:0002647
78 delayed skeletal maturation occasional (7.5%) HP:0002750
79 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
80 amyotrophy occasional (7.5%) HP:0003202
81 myalgia occasional (7.5%) HP:0003326
82 paresthesia occasional (7.5%) HP:0003401
83 abnormality of temperature regulation occasional (7.5%) HP:0004370
84 intestinal obstruction occasional (7.5%) HP:0005214
85 premature loss of teeth occasional (7.5%) HP:0006480
86 spontaneous hematomas occasional (7.5%) HP:0007420
87 abnormal retinal pigmentation occasional (7.5%) HP:0007703
88 ichthyosis occasional (7.5%) HP:0008064
89 primary adrenal insufficiency occasional (7.5%) HP:0008207
90 feeding difficulties in infancy occasional (7.5%) HP:0008872
91 abnormality of immune system physiology occasional (7.5%) HP:0010978
92 thyroiditis occasional (7.5%) HP:0100646
93 type i diabetes mellitus occasional (7.5%) HP:0100651
94 glomerulopathy occasional (7.5%) HP:0100820
95 progressive sensorineural hearing impairment HP:0000408
96 congenital cataract HP:0000519
97 dementia HP:0000726
98 hemiparesis HP:0001269
99 encephalopathy HP:0001298
100 mitochondrial inheritance HP:0001427
101 growth abnormality HP:0001507
102 generalized tonic-clonic seizures HP:0002069
103 migraine HP:0002076
104 stroke-like episodes HP:0002401
105 episodic vomiting HP:0002572
106 lactic acidosis HP:0003128
107 myopathy HP:0003198
108 ragged-red muscle fibers HP:0003200
109 mitochondrial myopathy HP:0003737
110 bilateral sensorineural hearing impairment HP:0008619
111 hemianopsia HP:0012377
112 cortical visual impairment HP:0100704

Drugs & Therapeutics for Melas Syndrome

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Drug clinical trials:

Search ClinicalTrials for Melas Syndrome

Search NIH Clinical Center for Melas Syndrome

Genetic Tests for Melas Syndrome

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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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MalaCards organs/tissues related to Melas Syndrome:

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

Animal Models for Melas Syndrome or affiliated genes

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Publications for Melas Syndrome

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Articles related to Melas Syndrome:

(show top 50)    (show all 116)
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
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. (22747838)
2012
4
Anti-NMDA receptor antibodies in a case of MELAS syndrome. (21898136)
2012
5
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report. (20036095)
2012
6
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. (22325939)
2012
7
Neuraxial anaesthesia in MELAS syndrome. (22165378)
2011
8
MELAS syndrome in an Indigenous Australian woman. (22107001)
2011
9
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
10
Successful left hemihepatectomy and perioperative management of a patient with biliary cystadenocarcinoma, complicated with MELAS syndrome: report of a case. (20740354)
2010
11
Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-. (20508802)
2010
12
Friedrich Nietzsche (1844-1900): a classical case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome? (19723969)
2009
13
MELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress. (18625001)
2009
14
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. (18990125)
2008
15
MELAS syndrome in a patient with a point mutation in MTTS1. (17894844)
2008
16
Retinal atrophy associated with FSGS in a patient with MELAS syndrome. (18591951)
2008
17
A MELAS syndrome family harboring two mutations in mitochondrial genome. (18587274)
2008
18
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. (17560506)
2007
19
Pregnancy-precipitated status epilepticus: a rare presentation of MELAS syndrome. (17272912)
2007
20
FDG-PET imaging in the investigation of homonymous hemianopia in a patient with MELAS syndrome. (17515762)
2007
21
Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. (16230801)
2005
22
Post-ictal recovery of anarthria and weakness in MELAS syndrome. (15319559)
2004
23
Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome. (15164411)
2004
24
Rhabdomyolysis in a patient with MELAS syndrome. (12944725)
2003
25
Response to sumatriptan in headache of MELAS syndrome. (12939448)
2003
26
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. (11171912)
2001
27
Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome. (10660156)
2000
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
Successful cochlear implantation in a patient with MELAS syndrome. (10100521)
1999
31
Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome. (10071173)
1999
32
Melas syndrome. (10798118)
1999
33
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report. (9822126)
1998
34
Sensorineural hearing loss in MELAS syndrome. (9156069)
1997
35
Increase of blood NAD+ and attenuation of lactacidemia during nicotinamide treatment of a patient with the MELAS syndrome. (8594319)
1996
36
Laminar cortical necrosis in MELAS syndrome: MR and neuropathological observations. (8837076)
1996
37
MELAS syndrome associated with a tandem duplication in the D-loop of mitochondrial DNA. (8836308)
1996
38
Cerebral hyperperfusion antedates by years strokelike episodes in the MELAS syndrome. (8571438)
1996
39
MELAS syndrome. (7483605)
1995
40
MELAS syndrome associated with diabetes mellitus and hyperthyroidism: a case report from Taiwan. (7554321)
1995
41
CPEO and carnitine deficiency overlapping in MELAS syndrome. (7484081)
1995
42
MELAS syndrome: correlation between clinical features and molecular genetic analysis. (7887136)
1994
43
Ocular pathology of MELAS syndrome with mitochondrial DNA nucleotide 3243 point mutation. (8259272)
1993
44
Simvastatin-induced rhabdomyolysis followed by a MELAS syndrome. (8420287)
1993
45
Ophthalmologic manifestations in MELAS syndrome. (8363452)
1993
46
MELAS syndrome masquerading as herpes simplex encephalitis. (8255441)
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
N-isopropyl-p-[123I]iodoamphetamine SPECT in MELAS syndrome: comparison with CT and MR imaging. (1987205)
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

Variations for Melas Syndrome

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UniProtKB/Swiss-Prot genetic disease variations for Melas Syndrome:

64
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

Clinvar genetic disease variations for Melas Syndrome:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1MT-TCm.5814T> Csingle nucleotide variantPathogenicrs200077222GRCh37Chr MT, 5814: 5814
2MT-TFm.583G> Asingle nucleotide variantPathogenicrs118203885GRCh37Chr MT, 583: 583
3MT-TL1m.3243A> Gsingle nucleotide variantPathogenicrs199474657GRCh37Chr MT, 3243: 3243
4MT-TL1m.3271T> Csingle nucleotide variantPathogenicrs199474658GRCh37Chr MT, 3271: 3271
5MT-TQm.4332G> Asingle nucleotide variantPathogenicrs199476141GRCh37Chr MT, 4332: 4332
6MT-ND6m.14453G> Asingle nucleotide variantPathogenicrs199476107GRCh37Chr MT, 14453: 14453
7MT-ND5m.12770A> Gsingle nucleotide variantPathogenicrs267606894GRCh37Chr MT, 12770: 12770
8MT-ND5m.13045A> Csingle nucleotide variantPathogenicrs267606895GRCh37Chr MT, 13045: 13045
9MT-ND5m.13084A> Tsingle nucleotide variantPathogenicrs267606896GRCh37Chr MT, 13084: 13084
10MT-ND5m.13513G> Asingle nucleotide variantPathogenicrs267606897GRCh37Chr MT, 13513: 13513
11MT-ND5m.13042G> Asingle nucleotide variantPathogenicrs267606898GRCh37Chr MT, 13042: 13042
12MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
13MT-ND1m.3946G> Asingle nucleotide variantPathogenicrs199476123GRCh37Chr MT, 3946: 3946
14MT-ND1m.3949T> Csingle nucleotide variantPathogenicrs199476124GRCh37Chr MT, 3949: 3949

Expression for genes affiliated with Melas Syndrome

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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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Compounds for genes affiliated with Melas Syndrome

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Sources:
44Novoseek, 24HMDB, 50PharmGKB, 28IUPHAR, 11DrugBank
See all sources

Compounds related to Melas Syndrome according to GeneCards/GeneDecks:

(show all 31)
idCompoundScoreTop Affiliating Genes
1solium4410.2MT-ND1, MT-CO1
2isoleucine4410.0MT-ND4, MT-ND6
3Ubiquinol 8249.9MT-ND6, MT-ND5, MT-ND1, MT-ND4
4rofecoxib44 50 28 1112.9CPOX, MT-CO2
5valine449.9MT-ND6, MT-ND4, MT-ND5, MT-ND1
6cholic acid44 28 24 1112.8MT-CO2, MT-CO1, MT-CO3
7methionine449.7MT-ND1, MT-ND5, MT-ND6
8rotenone449.7NDUFS4, MT-ND6, MT-ND1
9ubiquinone449.7NDUFS4, MT-ND4
10rrna449.6MT-CO1, MTERF
11copper44 2410.5MT-CO1, MT-CO2, CPOX
12Sulfide249.5MT-ND6, MT-ND1, NDUFS4, MT-ND4
13QH2249.5MT-ND6, MT-ND1, MT-ND4, NDUFS4
14Ubiquinone Q2249.5MT-ND4, MT-ND1, MT-ND6, NDUFS4
15pyruvate449.5NDUFS4, MT-ND4, MT-ND1
16FAD249.5MT-ND4, MT-ND1, MT-ND6, NDUFS4
17porphyrin449.4TPO, CPOX
18Ubiquinone Q1249.3MT-ND4, MT-ND1, MT-ND6, MT-ND5, NDUFS4
19nad28 2410.3MT-ND1, MT-ND6, NDUFS4, MT-ND5, MT-ND4
205-aminolevulinic acid44 2410.2CPOX, TPO
21succinate449.1MT-CO1, NDUFS4, MT-ND4, CPOX
22heme28 24 1111.0TPO, MT-CO1, CPOX
23lactate448.8NDUFS4, MT-ND1, MT-ND4, CPOX, MT-CO2
24citrate448.7NDUFS4, MT-CO1, CPOX, MT-CO3, MT-CO2
25glucose448.4MT-ND1, MT-CO1, NDUFS4, MT-CO3, CPOX, MT-ND4
26hydrogen44 249.2NDUFS4, MT-CO2, MT-CO1, TPO, CPOX
27Water248.2CPOX, MT-CO1, MT-CO2, TPO
28oxygen44 249.0NDUFS4, MT-ND6, MT-CO1, CPOX, TPO, MT-CO2
29iron44 248.9MT-CO1, MT-ND1, CPOX, MT-ND6, TPO, NDUFS4
30nadh44 24 119.8MT-ND5, NDUFS4, MT-CO2, MT-ND6, MT-CO3, MT-CO1
31atp44 288.2TPO, CPOX, MT-ND4, MT-CO1, MT-CO3, MT-CO2

GO Terms for genes affiliated with Melas Syndrome

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Products for genes affiliated with Melas Syndrome

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  • Antibodies
  • Proteins
  • Lysates

Sources for Melas Syndrome

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet