MELAS
MCID: MLS001
MIFTS: 59

Melas Syndrome (MELAS) malady

Genetic diseases, Neuronal diseases, Eye diseases, Ear diseases, Fetal diseases, Rare diseases, Muscle diseases, Immune diseases categories

Summaries for Melas Syndrome

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22Genetics Home Reference, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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 kearns-sayre syndrome, and has symptoms including chronic arterial hypertension, pulmonary thromboembolism and renal glomerular defect/glomerulopathy. An important gene associated with Melas Syndrome is MT-TS1 (mitochondrially encoded tRNA serine 1 (UCN)), and among its related pathways are Cardiac muscle contraction and Alzheimer's disease. The compounds solium and rofecoxib have been mentioned in the context of this disorder. Affiliated tissues include heart, thyroid and skin.

Wikipedia:66 Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes ? abbreviated to MELAS ? is... more...

Description from OMIM:48 540000

GeneReviews summary for melas

Aliases & Classifications for Melas Syndrome

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Sources:
9Disease Ontology, 11DISEASES, 50Orphanet, 48OMIM, 63UMLS, 20GeneReviews, 21GeneTests, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

50
melas syndrome:
Inheritance: Mitochondrial inheritance,Sporadic; Age of onset: Childhood


Aliases & Descriptions:

melas syndrome 9 11 50 48 63
melas 20 21
mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9
mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes 50
mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes 50
mitochondrial-encephalopathy-lactic acidosis-stroke 20
lactic acidosis,stroke-like episodes; myopathy 20
mitochondrial encephalomyopathies 63
mitochondrial encephalomyopathy 20


External Ids:

Disease Ontology9 DOID:3687
OMIM48 540000
MeSH36 D017241
MESH via Orphanet37 D017241
SNOMED-CT59 39925003, 240097009
ICD10 via Orphanet27 G71.3
SNOMED-CT via Orphanet60 39925003
UMLS via Orphanet64 C0162671

Related Diseases for Melas Syndrome

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Sources:
18GeneCards, 19GeneDecks
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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 108)
idRelated DiseaseScoreTop Affiliating Genes
1lactic acidosis31.1MT-ND5
2kearns-sayre syndrome30.9CPOX
3mitochondrial disorders30.8NDUFS4, MT-ND5
4parkinson's disease30.4NDUFS4, MT-ND5, MT-ND1
5merrf syndrome30.0CPOX, MT-ND5
6leber hereditary optic neuropathy29.8MT-ND4, MT-ND5, MT-CO3, MT-ND1, MT-ND6
7intestinal pseudo-obstruction10.6
8acanthocytosis10.6
9growth hormone deficiency10.6
10myopathy10.5
11mitochondrial encephalomyopathy10.4
12encephalomyopathy10.4
13mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes10.4
14merrf/melas overlap syndrome10.3
15combined oxidative phosphorylation deficiency 610.3
16myoclonus10.3
17choroiditis10.3
18hypoparathyroidism10.3
19muscular dystrophy10.3
20ophthalmoplegia10.3
21pancreatitis10.3
22sleep apnea10.3
23aminoacidopathies10.3
24fastkd2-related infantile mitochondrial encephalomyopathy10.3
25ramsay-hunt syndrome10.3
26status epilepticus10.2
27sensorineural hearing loss10.2
28cerebritis10.2
29diabetes mellitus10.2
30encephalitis10.2
31herpes simplex10.2
32hyperthyroidism10.2
33thyroiditis10.2
34herpes simplex encephalitis10.2
35atrioventricular block10.1
36focal segmental glomerulosclerosis10.1
37pearson syndrome10.1
38primary open angle glaucoma10.1
39fanconi syndrome10.1
40hypertrophic cardiomyopathy10.1
41mutism10.1
42amenorrhea10.1
43vitiligo10.1
44cataract10.1
45dementia10.1
46glaucoma10.1
47glomerulosclerosis10.1
48intestinal obstruction10.1
49leukodystrophy10.1
50myotonic dystrophy10.1

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



Diseases related to melas syndrome

Symptoms for Melas Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

540000

Clinical features from OMIM:

540000

Symptoms:

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

Drugs & Therapeutics for Melas Syndrome

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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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21GeneTests
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Genetic tests related to Melas Syndrome:

id Genetic test Affiliating Genes
1 Melas21

Anatomical Context for Melas Syndrome

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34MalaCards
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MalaCards organs/tissues related to Melas Syndrome:

34
Heart, Thyroid, Skin, Lung, Liver, Eye, Cerebellum, Bone, Kidney, Brain, Skeletal muscle

Animal Models for Melas Syndrome or affiliated genes

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Publications for Melas Syndrome

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Sources:
53PubMed
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Articles related to Melas Syndrome:

(show top 50)    (show all 113)
idTitleAuthorsYear
1
MELAS syndrome presenting as an acute surgical abdomen. (24417855)
2014
2
Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome mimicking herpes simplex encephalitis on imaging studies. (23493219)
2013
3
A Case of Myopathy, Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS) Syndrome with Intracardiac Thrombus [corrected]. (23613701)
2013
4
Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease. (22747838)
2012
5
Anti-NMDA receptor antibodies in a case of MELAS syndrome. (21898136)
2012
6
Adult-onset of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome presenting as acute meningoencephalitis: a case report. (20036095)
2012
7
Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation. (22325939)
2012
8
Neuraxial anaesthesia in MELAS syndrome. (22165378)
2011
9
MELAS syndrome in an Indigenous Australian woman. (22107001)
2011
10
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
11
Successful left hemihepatectomy and perioperative management of a patient with biliary cystadenocarcinoma, complicated with MELAS syndrome: report of a case. (20740354)
2010
12
Total intravenous anesthesia with propofol and remifentanil in a patient with MELAS syndrome -A case report-. (20508802)
2010
13
Friedrich Nietzsche (1844-1900): a classical case of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome? (19723969)
2009
14
MELAS syndrome, diabetes and thyroid disease: the role of mitochondrial oxidative stress. (18625001)
2009
15
Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes: basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. (18990125)
2008
16
MELAS syndrome in a patient with a point mutation in MTTS1. (17894844)
2008
17
Retinal atrophy associated with FSGS in a patient with MELAS syndrome. (18591951)
2008
18
A MELAS syndrome family harboring two mutations in mitochondrial genome. (18587274)
2008
19
Elevated thyroid peroxidase antibodies with encephalopathy in MELAS syndrome. (17560506)
2007
20
Pregnancy-precipitated status epilepticus: a rare presentation of MELAS syndrome. (17272912)
2007
21
FDG-PET imaging in the investigation of homonymous hemianopia in a patient with MELAS syndrome. (17515762)
2007
22
Precipitation of stroke-like event by chickenpox in a child with MELAS syndrome. (16230801)
2005
23
Cochlear implantation in patients with MELAS syndrome. (15841411)
2005
24
Post-ictal recovery of anarthria and weakness in MELAS syndrome. (15319559)
2004
25
Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome. (15164411)
2004
26
Rhabdomyolysis in a patient with MELAS syndrome. (12944725)
2003
27
Response to sumatriptan in headache of MELAS syndrome. (12939448)
2003
28
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation. (11171912)
2001
29
Absence of maternal A3243G mtDNA mutation and reversible hyperglycemia in a patient with MELAS syndrome. (10660156)
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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65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Melas Syndrome:

65
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:

1 (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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2BioGPS, 16Gene 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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51PathCards, 31KEGG, 39NCBI BioSystems Database, 56Reactome
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Compounds for genes affiliated with Melas Syndrome

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46Novoseek, 52PharmGKB, 30IUPHAR, 12DrugBank, 25HMDB
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Compounds related to Melas Syndrome according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1solium4610.2MT-ND1, MT-CO1
2rofecoxib46 52 30 1213.0CPOX, MT-CO2
3cholic acid46 30 25 1212.9MT-CO1, MT-CO2, MT-CO3
4Ubiquinol 8259.8MT-ND4, MT-ND5, MT-ND6, MT-ND1
5methionine469.8MT-ND1, MT-ND6, MT-ND5
6rrna469.8MTERF, MT-CO1
7valine469.8MT-ND4, MT-ND6, MT-ND5, MT-ND1
8copper46 2510.7MT-CO2, CPOX, MT-CO1
9ubiquinone469.7NDUFS4, MT-ND4
10rotenone469.7MT-ND1, MT-ND6, NDUFS4
11isoleucine469.6MT-ND4, MT-ND6
12pyruvate469.5MT-ND1, NDUFS4, MT-ND4
13Sulfide259.4MT-ND1, MT-ND6, NDUFS4, MT-ND4
14QH2259.4MT-ND4, MT-ND1, MT-ND6, NDUFS4
15Ubiquinone Q2259.4NDUFS4, MT-ND1, MT-ND4, MT-ND6
16porphyrin469.4CPOX, TPO
17FAD259.4MT-ND6, MT-ND4, NDUFS4, MT-ND1
185-aminolevulinic acid46 2510.3TPO, CPOX
19alanine469.2CPOX, MT-ND1, MT-ND6, MT-ND5
20Ubiquinone Q1259.2MT-ND4, NDUFS4, MT-ND5, MT-ND6, MT-ND1
21nad30 2510.2NDUFS4, MT-ND1, MT-ND5, MT-ND6, MT-ND4
22succinate469.1MT-ND4, CPOX, NDUFS4, MT-CO1
23heme30 25 1211.1CPOX, TPO, MT-CO1
24threonine468.9MT-ND5, MT-ND1, MT-ND4, NDUFS4
25citrate468.9MT-CO2, MT-CO1, CPOX, NDUFS4, MT-CO3
26lactate468.8MT-ND4, MT-ND1, MT-CO2, NDUFS4, CPOX
27Water258.6MT-CO2, MT-CO1, TPO, CPOX
28glucose468.4MT-ND1, MT-CO1, MT-CO3, MT-ND4, NDUFS4, CPOX
29hydrogen46 259.4CPOX, MT-CO1, MT-CO2, NDUFS4, TPO
30oxygen46 259.1TPO, MT-CO1, MT-ND6, NDUFS4, MT-CO2, CPOX
31nadh46 25 129.9MT-CO2, CPOX, MT-ND4, MT-ND1, MT-CO1, MT-CO3
32iron46 258.8MT-ND6, MT-CO1, MT-ND1, MT-ND4, CPOX, TPO
33atp46 308.2MT-ND4, MT-ND1, MT-CO1, MT-CO3, TPO, 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
  • Antibodies

Sources for Melas Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet