MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:6927
Name:MELAS Syndrome
Definition:A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling strokes, and ragged-red fibers on muscle biopsy. Affected individuals tend to be normal at birth through early childhood, then experience growth failure, episodic vomiting, and recurrent cerebral insults resulting in visual loss and hemiparesis. The cortical lesions tend to occur in the parietal and occipital lobes and are not associated with vascular occlusion. VASCULAR HEADACHE is frequently associated and the disorder tends to be familial. (From Joynt, Clinical Neurology, 1992, Ch56, p117)
Alternative IDs:OMIM:540000
ParentIDs:MESH:D017237|MESH:D020739|MESH:D059345
TreeNumbers:C05.651.460.620.520 |C10.228.140.163.100.535 |C10.228.140.300.275.500 |C10.668.491.500.500.500 |C14.907.253.329.500 |C16.320.565.189.535 |C18.452.132.100.535 |C18.452.648.189.535 |C18.452.660.560.620.520
Synonyms:MELAS |MELAS SYNDROME |Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes |Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode |Myopathy, Mitoc
Slim Mappings:Cardiovascular disease|Genetic disease (inborn)|Metabolic disease|Musculoskeletal disease|Nervous system disease
Reference: MedGen: D017241
MeSH: D017241
OMIM: 540000;
MSeqDR LSDB: 00163;
MSeqDR has 2 matches in descendants: 00039; 00472;  
Genes:
Phenotypes
1 HP:0001427Mitochondrial inheritance
2 HP:0002027Abdominal paintypical
3 HP:0003287Abnormality of mitochondrial metabolismhallmark
4 HP:0002269Abnormality of neuronal migrationoccasional
5 HP:0007703Abnormality of retinal pigmentationoccasional
6 HP:0004370Abnormality of temperature regulationoccasional
7 HP:0000078Abnormality of the genital systemoccasional
8 HP:0001392Abnormality of the liver
NAMDC:  Hepatic
occasional
9 HP:0001103Abnormality of the maculaoccasional
10 HP:0000377Abnormality of the pinnaoccasional
11 HP:0000091Abnormality of the renal tubuleoccasional
12 HP:0000649Abnormality of visual evoked potentialsoccasional
13 HP:0100576Amaurosis fugaxtypical
14 HP:0002039Anorexiatypical
15 HP:0000830Anterior hypopituitarismoccasional
16 HP:0001724Aortic dilatationoccasional
17 HP:0002647Aortic dissectionoccasional
18 HP:0007360Aplasia/Hypoplasia of the cerebellumtypical
19 HP:0002104Apneaoccasional
20 HP:0002804Arthrogryposis multiplex congenitaoccasional
21 HP:0007018Attention deficit hyperactivity disordertypical
22 HP:0000717Autism
NAMDC:  Autism
occasional
23 HP:0008619Bilateral sensorineural hearing impairment
24 HP:0000670Carious teethoccasional
25 HP:0000518Cataract
NAMDC:  Cataracts
occasional
26 HP:0002514Cerebral calcificationtypical
27 HP:0002120Cerebral cortical atrophytypical
28 HP:0002637Cerebral ischemiahallmark
29 HP:0000519Congenital cataract
30 HP:0001635Congestive heart failureoccasional
31 HP:0001635Congestive heart failure
32 HP:0002019Constipationoccasional
33 HP:0100704Cortical visual impairment
34 HP:0004325Decreased body weighttypical
35 HP:0000762Decreased nerve conduction velocitytypical
36 HP:0002750Delayed skeletal maturationoccasional
37 HP:0000726Dementia
NAMDC:  Dementia
38 HP:0002376Developmental regressionhallmark
39 HP:0000819Diabetes mellitus
NAMDC:  Diabetes mellitus
40 HP:0002353EEG abnormalityoccasional
41 HP:0003457EMG abnormalityhallmark
42 HP:0001298Encephalopathy
NAMDC:  Encephalopathy (At least one neurological manifestation marked with an *)
43 HP:0002572Episodic vomiting
44 HP:0008872Feeding difficulties in infancyoccasional
45 HP:0002069Generalized tonic-clonic seizures
46 HP:0000212Gingival overgrowthoccasional
47 HP:0100820Glomerulopathyoccasional
48 HP:0000853Goiteroccasional
49 HP:0001507Growth abnormality
NAMDC:  Constitutional
50 HP:0000738Hallucinationstypical
51 HP:0012377Hemianopia
52 HP:0001269Hemiparesis
53 HP:0004374Hemiplegia/hemiparesishallmark
54 HP:0002150Hypercalciuriaoccasional
55 HP:0000316Hypertelorismoccasional
56 HP:0000822Hypertension
57 HP:0000822Hypertensionoccasional
58 HP:0000836Hyperthyroidismoccasional
59 HP:0000998Hypertrichosisoccasional
60 HP:0001639Hypertrophic cardiomyopathy
NAMDC:  Hypertrophic cardomyopathy
occasional
61 HP:0000829Hypoparathyroidismoccasional
62 HP:0001053Hypopigmented skin patchesoccasional
63 HP:0000821Hypothyroidism
NAMDC:  Hypothyroidism
occasional
64 HP:0008064Ichthyosisoccasional
65 HP:0002311Incoordinationtypical
66 HP:0005214Intestinal obstructionoccasional
67 HP:0004305Involuntary movementstypical
68 HP:0003128Lactic acidosis
69 HP:0001712Left ventricular hypertrophy
70 HP:0002024Malabsorptionoccasional
71 HP:0000298Mask-like faciesoccasional
72 HP:0002354Memory impairmenttypical
73 HP:0000252Microcephalyoccasional
74 HP:0002076Migraine
NAMDC:  Migraine Headaches
75 HP:0002076Migraine
NAMDC:  Migraine Headaches
hallmark
76 HP:0003737Mitochondrial myopathy
77 HP:0001012Multiple lipomasoccasional
78 HP:0001324Muscle weakness
NAMDC:  Muscle weakness: diffuse
hallmark
79 HP:0001252Muscular hypotonia
NAMDC:  Hypotonia
occasional
80 HP:0003326Myalgiaoccasional
81 HP:0003198Myopathy
NAMDC:  Myopathy
hallmark
82 HP:0003198Myopathy
NAMDC:  Myopathy
83 HP:0002017Nausea and vomiting
NAMDC:  Recurrent nausea/vomiting
typical
84 HP:0000100Nephrotic syndrome
NAMDC:  Nephrotic syndrome
occasional
85 HP:0002167Neurological speech impairmentoccasional
86 HP:0000662Nyctalopiaoccasional
87 HP:0000597Ophthalmoparesis
NAMDC:  Ophthalmoparesis
occasional
88 HP:0000602Ophthalmoplegia
89 HP:0000648Optic atrophyoccasional
90 HP:0001733Pancreatitistypical
91 HP:0003401Paresthesiaoccasional
92 HP:0006480Premature loss of teethoccasional
93 HP:0008207Primary adrenal insufficiencyoccasional
94 HP:0000408Progressive sensorineural hearing impairment
95 HP:0000093Proteinuriaoccasional
96 HP:0000508Ptosis
NAMDC:  Ptosis
typical
97 HP:0002204Pulmonary embolismoccasional
98 HP:0002092Pulmonary hypertensionoccasional
99 HP:0003200Ragged-red muscle fibers
100 HP:0004372Reduced consciousness/confusiontypical
101 HP:0001315Reduced tendon reflexesoccasional
102 HP:0000083Renal insufficiencyoccasional
103 HP:0002093Respiratory insufficiencytypical
104 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
typical
105 HP:0004322Short stature
NAMDC:  Short stature (patient¡¯s height is below the 3rd percentile)
typical
106 HP:0003202Skeletal muscle atrophyoccasional
107 HP:0007420Spontaneous hematomasoccasional
108 HP:0002401Stroke-like episodes
109 HP:0001645Sudden cardiac deathoccasional
110 HP:0100646Thyroiditisoccasional
111 HP:0001337Tremoroccasional
112 HP:0100651Type I diabetes mellitusoccasional
113 HP:0005978Type II diabetes mellitustypical
114 HP:0002119Ventriculomegalyoccasional
115 HP:0001123Visual field defecttypical
116 HP:0000505Visual impairmentoccasional
117 HP:0001716Wolff-Parkinson-White syndrome
NAMDC:  Wolff-Parkinson-White
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
m.3697G>A4535MT-ND1Pathogenic199476122RCV000010385; RCV000056168; RCV000010386; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1839040,OMIM:500001M36973697--NC_012920.1:m.3697G>AOMIM Allelic Variant:516000.0012C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C1839040 500001 Leber hereditary optic neuropathy with dystonia; C0917796 535000 Leber's optic atrophy
m.3946G>A4535MT-ND1Pathogenic199476123RCV000010387; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M39463946--NC_012920.1:m.3946G>AOMIM Allelic Variant:516000.0013C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.3949T>C4535MT-ND1Pathogenic199476124RCV000010388; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M39493949--NC_012920.1:m.3949T>COMIM Allelic Variant:516000.0014C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.11084A>G4538MT-ND4Pathogenic199476113RCV000010355; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M1108411084--NC_012920.1:m.11084A>GOMIM Allelic Variant:516003.0002C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.12770A>G4540MT-ND5Pathogenic267606894RCV000010339; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M1277012770--NC_012920.1:m.12770A>GOMIM Allelic Variant:516005.0004C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.13042G>A4540MT-ND5Pathogenic267606898RCV000010349; RCV000010347; RCV000010348; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C1838951M1304213042--NC_012920.1:m.13042G>AOMIM Allelic Variant:516005.0008C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C1838951 Leigh syndrome due to mitochondrial complex I deficiency; C0162672 545000 Myoclonus with epilepsy with ragged red fibers
m.13045A>C4540MT-ND5Pathogenic267606895RCV000010342; RCV000010340; RCV000010341; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0917796,OMIM:535000,SNOMED CT:58610003; MedGen:C1838951M1304513045--NC_012920.1:m.13045A>COMIM Allelic Variant:516005.0005C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0917796 535000 Leber's optic atrophy; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
m.13084A>T4540MT-ND5Pathogenic267606896RCV000010343; RCV000010344; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C1838951M1308413084--NC_012920.1:m.13084A>TOMIM Allelic Variant:516005.0006C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
m.13513G>A4540MT-ND5Pathogenic267606897RCV000010346; RCV000144016; RCV000010345; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C1838951M1351313513--NC_012920.1:m.13513G>AOMIM Allelic Variant:516005.0007C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C1838951 Leigh syndrome due to mitochondrial complex I deficiency
m.14453G>A4541MT-ND6Pathogenic199476107RCV000010331; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M1445314453--NC_012920.1:m.14453G>AOMIM Allelic Variant:516006.0005C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.5814T>C4511MT-TCPathogenic200077222RCV000022896; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M58145814--NC_012920.1:m.5814T>COMIM Allelic Variant:590020.0001C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.583G>A4558MT-TFPathogenic118203885RCV000010186; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M583583--NC_012920.1:m.583G>AOMIM Allelic Variant:590070.0001C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.3243A>G4567MT-TL1Pathogenic199474657RCV000010211; RCV000143997; RCV000022901; RCV000022902; RCV000010206; RCV000192054; RCV000032997; RCV000010208; RCV000010209; RCV000010210; YMedGen:C0023264,OMIM:256000,SNOMED CT:29570005; MedGen:C0152164,OMIM:500007,SNOMED CT:18773000; MedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003; MedGen:C0162672,OMIM:545000,ORPHA:551; MedGen:C0268237,OMIM:220110,ORPHA:254905,SNOMED CT:67434000; MedGM32433243--NC_012920.1:m.3243A>GOMIM Allelic Variant:590050.0001C0152164 500007 Cyclical vomiting syndrome; C0268237 220110 Cytochrome-c oxidase deficiency; C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke; C0023264 256000 Leigh syndrome; C0162672 545000 Myoclonus with epilepsy with ragge
m.3271T>C4567MT-TL1Pathogenic199474658RCV000010212; YMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M32713271--NC_012920.1:m.3271T>COMIM Allelic Variant:590050.0002C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
m.4332G>A4572MT-TQPathogenic199476141RCV000010240; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:39925003M43324332--NC_012920.1:m.4332G>AOMIM Allelic Variant:590030.0003C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
NM_001199981.1(NDUFS1):c.650T>G (p.Val217Gly)4719NDUFS1Likely pathogenic786205666RCV000170569; NMedGen:C0162671,OMIM:540000,ORPHA:550,SNOMED CT:399250032207009730207009730NM_001199981.1:c.650T>GNP_001186910.1:p.Val217GlyNC_000002.11:g.207009730A>C-C0162671 540000 Juvenile myopathy, encephalopathy, lactic acidosis AND stroke
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000198888 MSeqDR Search EnsemblMT-ND1133mitochondrially encoded NADH dehydrogenase 1 [Source:HGNC Symbol;Acc:7455]00163
ENSG00000198886 MSeqDR Search EnsemblMT-ND4111mitochondrially encoded NADH dehydrogenase 4 [Source:HGNC Symbol;Acc:7459]00163
ENSG00000198786 MSeqDR Search EnsemblMT-ND5155mitochondrially encoded NADH dehydrogenase 5 [Source:HGNC Symbol;Acc:7461]00163
ENSG00000198695 MSeqDR Search EnsemblMT-ND6111mitochondrially encoded NADH dehydrogenase 6 [Source:HGNC Symbol;Acc:7462]00163
ENSG00000210140 MSeqDR Search EnsemblMT-TC111mitochondrially encoded tRNA cysteine [Source:HGNC Symbol;Acc:7477]00163
ENSG00000210049 MSeqDR Search EnsemblMT-TF111mitochondrially encoded tRNA phenylalanine [Source:HGNC Symbol;Acc:7481]00163
ENSG00000210176 MSeqDR Search EnsemblMT-TH100mitochondrially encoded tRNA histidine [Source:HGNC Symbol;Acc:7487]00163
ENSG00000210156 MSeqDR Search EnsemblMT-TK100mitochondrially encoded tRNA lysine [Source:HGNC Symbol;Acc:7489]00163
ENSG00000209082 MSeqDR Search EnsemblMT-TL1142mitochondrially encoded tRNA leucine 1 (UUA/G) [Source:HGNC Symbol;Acc:7490]00163
ENSG00000210107 MSeqDR Search EnsemblMT-TQ111mitochondrially encoded tRNA glutamine [Source:HGNC Symbol;Acc:7495]00163
ENSG00000210151 MSeqDR Search EnsemblMT-TS1100mitochondrially encoded tRNA serine 1 (UCN) [Source:HGNC Symbol;Acc:7497]00163
ENSG00000210184 MSeqDR Search EnsemblMT-TS2100mitochondrially encoded tRNA serine 2 (AGU/C) [Source:HGNC Symbol;Acc:7498]00163

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