MCID: MLS001
MIFTS: 50

Melas Syndrome malady

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

Summaries for Melas Syndrome

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

MalaCards based summary: Melas Syndrome, also known as melas, is related to lactic acidosis and mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes, and has symptoms including seizures, muscle weakness and migraine. 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 Ubiquinol 8 have been mentioned in the context of this disorder. Affiliated tissues include heart, skin and cerebellum.

GeneReviews summary for melas

Aliases & Classifications for Melas Syndrome

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Sources:
9Disease Ontology, 19GeneReviews, 20GeneTests, 11DISEASES, 47Orphanet, 60UMLS, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Melas Syndrome, Aliases & Descriptions:

Name: Melas Syndrome 9 11 60
Melas 19 20 47
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes 9
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes 47
Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-Like Episodes 47
 
Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke 19
Lactic Acidosis,stroke-Like Episodes; Myopathy 19
Mitochondrial Encephalomyopathies 60
Mitochondrial Encephalomyopathy 19


Classifications:



Characteristics (Orphanet epidemiological data):

47
melas:
Inheritance: Mitochondrial inheritance,Not applicable; Age of onset: Childhood


External Ids:

Disease Ontology9 DOID:3687
MeSH33 D017241
Orphanet47 550
SNOMED-CT55 240097009, 39925003
MESH via Orphanet34 D017241
ICD10 via Orphanet26 G71.3
UMLS via Orphanet61 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 Suite gene sharing:

(show top 50)    (show all 105)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.7MT-ND5
2mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes31.1MT-TL1, MT-ND5
3myopathy30.7CPOX, MT-CYB, NDUFS4
4kearns-sayre syndrome30.7CPOX
5merrf syndrome30.4CPOX, MT-ND5
6mitochondrial disorders30.3NDUFS4, MT-ND5
7leber hereditary optic neuropathy29.6MT-ND4, MT-ND1, MT-CO3, MT-ND6, MT-CYB, MT-ND5
8leigh syndrome29.6CPOX, MT-ND4, MT-CO1, MT-ND6, MT-ND5, NDUFS4
9intestinal pseudo-obstruction10.6
10growth hormone deficiency10.6
11severe x-linked mitochondrial encephalomyopathy10.5
12merrf/melas overlap syndrome10.4
13mitochondrial encephalomyopathy10.4
14encephalomyopathy10.4
15fastkd2-related infantile mitochondrial encephalomyopathy10.4
16leber hereditary optic neuropathy with dystonia10.3MT-ND4, MT-ND6
17early myoclonic encephalopathy10.3MT-ND5, NDUFS4
18mitochondrial complex i deficiency10.3MT-ND5, MT-ND6
19hypoparathyroidism10.3
20muscular dystrophy10.3
21sleep apnea10.3
22aminoacidopathies10.3
23cerebritis10.3
24optic nerve disease10.3MT-ND4, MT-ND6
25status epilepticus10.2
26encephalitis10.2
27herpes simplex10.2
28hyperthyroidism10.2
29thyroiditis10.2
30herpes simplex encephalitis10.2
31brain disease10.2TPO, CPOX, MT-ND5, NDUFS4
32melas, mt-nd6-related10.2
33melas, mt-nd1-related10.2
34melas, mt-tk-related10.2
35melas, mt-ts1-related10.2
36melas, mt-nd5-related10.2
37melas, mt-tl1-related10.2
38melas, mt-ts2-related10.2
39melas, mt-tf-related10.2
40melas, mt-tq-related10.2
41melas, mt-th-related10.2
42mitochondrial complex iv deficiency10.1MT-CO1, MT-CO2
43fumarase deficiency10.1
44retinoblastoma10.1
45cataract10.1
46cerebral hemorrhage10.1
47focal segmental glomerulosclerosis10.1
48pearson syndrome10.1
49fanconi syndrome10.1
50mutism10.1

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:

 47 (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 94)
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

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:

31
Heart, Skin, Cerebellum, Liver, Thyroid, Eye, Bone, Lung, Kidney, Brain, 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 118)
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
Cochlear implantation in patients with MELAS syndrome. (15841411)
2005
23
Post-ictal recovery of anarthria and weakness in MELAS syndrome. (15319559)
2004
24
Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome. (15164411)
2004
25
Rhabdomyolysis in a patient with MELAS syndrome. (12944725)
2003
26
Response to sumatriptan in headache of MELAS syndrome. (12939448)
2003
27
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. (11171912)
2001
28
Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome. (10660156)
2000
29
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
30
Cerebral blood flow, vascular response and metabolism in patients with MELAS syndrome--xenon CT and PET study. (10750342)
2000
31
Successful cochlear implantation in a patient with MELAS syndrome. (10100521)
1999
32
Tissue mosaicism in the skeletal muscle and sural nerve biopsies in the MELAS syndrome. (10071173)
1999
33
Melas syndrome. (10798118)
1999
34
Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report. (9822126)
1998
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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Clinvar genetic disease variations for Melas Syndrome:

6 (show all 15)
id Gene Variation 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-ND4m.11084A> Gsingle nucleotide variantPathogenicGRCh37Chr MT, 11084: 11084
13MT-ND1m.3697G> Asingle nucleotide variantPathogenicrs199476122GRCh37Chr MT, 3697: 3697
14MT-ND1m.3946G> Asingle nucleotide variantPathogenicrs199476123GRCh37Chr MT, 3946: 3946
15MT-ND1m.3949T> Csingle nucleotide variantPathogenicrs199476124GRCh37Chr MT, 3949: 3949

Expression for genes affiliated with Melas Syndrome

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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:
43Novoseek, 24HMDB, 12DrugBank, 49PharmGKB, 28IUPHAR
See all sources

Compounds related to Melas Syndrome according to GeneCards Suite gene sharing:

(show all 38)
idCompoundScoreTop Affiliating Genes
1solium4310.2MT-ND1, MT-CO1
2Ubiquinol 82410.0MT-ND4, MT-ND6, MT-ND5, MT-ND1
3valine439.9MT-ND1, MT-ND4, MT-ND6, MT-ND5
4methionine439.9MT-ND5, MT-ND1, MT-ND6
5myxothiazol43 1210.8MT-CYB, NDUFS4
6citrinin439.8NDUFS4, MT-CYB
7rofecoxib43 49 28 1212.8MT-CO2, CPOX
8haem439.8MT-CYB, CPOX
9antimycin a439.7NDUFS4, MT-CYB
10rotenone439.7MT-ND1, MT-ND6, NDUFS4
11ubiquinone439.7NDUFS4, MT-CYB, MT-ND4
12rrna439.7MTERF, MT-CYB, MT-CO1
13cholic acid43 28 24 1212.6MT-CO1, MT-CO3, MT-CO2, MT-CYB
14Sulfide249.6NDUFS4, MT-ND6, MT-ND1, MT-ND4
15QH2249.6MT-ND4, MT-ND1, MT-ND6, NDUFS4
16nad+439.6MT-CYB, MT-ND4, NDUFS4
17Ubiquinone Q2249.6NDUFS4, MT-ND6, MT-ND4, MT-ND1
18FAD249.5NDUFS4, MT-ND6, MT-ND1, MT-ND4
19copper43 2410.4MT-CO2, MT-CYB, CPOX, MT-CO1
20Ubiquinone Q1249.4MT-ND1, NDUFS4, MT-ND5, MT-ND6, MT-ND4
21pyruvate439.4MT-ND4, MT-ND1, NDUFS4
22porphyrin439.4TPO, CPOX
23nad28 2410.4MT-ND6, NDUFS4, MT-ND1, MT-ND4, MT-ND5
24glyceraldehyde 3-phosphate439.3MT-CYB, MT-CO2, NDUFS4
25alanine439.2CPOX, MT-ND1, MT-ND6, MT-CYB, MT-ND5
26threonine439.1MT-ND1, MT-CYB, MT-ND5, NDUFS4, MT-ND4
275-aminolevulinic acid43 2410.0CPOX, TPO
28lactate438.9NDUFS4, MT-CO2, MT-ND4, MT-ND1, CPOX
29succinate438.9MT-CO1, MT-ND4, CPOX, NDUFS4, MT-CYB
30heme28 24 1210.8MT-CYB, MT-CO1, TPO, CPOX
31citrate438.8MT-CO3, CPOX, MT-CO1, NDUFS4, MT-CO2
32glucose438.2MT-CO3, NDUFS4, CPOX, MT-ND4, MT-ND1, MT-CO1
33hydrogen43 249.0TPO, MT-CO1, MT-CYB, NDUFS4, MT-CO2, CPOX
34h2o2437.9TPO, CPOX, NDUFS4, MT-CYB
35oxygen43 248.8CPOX, MT-CO2, NDUFS4, MT-CYB, MT-ND6, MT-CO1
36iron43 248.6CPOX, MT-ND4, MT-ND1, TPO, NDUFS4, MT-CYB
37nadh43 24 129.6NDUFS4, MT-ND4, CPOX, MT-ND1, MT-CO1, MT-CO3
38atp43 288.0MT-CO3, MT-CO1, TPO, NDUFS4, CPOX, MT-CYB

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
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Melas Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet