MSeqDR Mitochondrial Disease Portal


 
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Mitochondrial Diseases (D028361)
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Ophthalmoplegia (D009886)
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Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)

       Child Nodes:



 Sister Nodes: 
..expandAdenine Nucleotide Translocator Deficiency (C566309)
..expandCANOMAD syndrome (C537980)
..expandExternal Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation (C566509)
..expandFibrosis Of Extraocular Muscles, Congenital, 2 (C566587)
..expandHamano Tsukamoto syndrome (C535625)
..expandInclusion Body Myopathy 3, Autosomal Dominant (C565311)
..expandInclusion body myopathy, autosomal dominant (C538330)
..expandMinicore Myopathy with External Ophthalmoplegia (C564969)
..expandMotor Neuron Disease with Dementia and Ophthalmoplegia (C563954)
..expandOcular Myopathy with Curare Sensitivity (C564937)
..expandOculomelic amyoplasia (C537737)
..expandOculootoradial syndrome (C535544)
..expandOphthalmoplegia Totalis with Ptosis and Miosis (C564927)
..expandOphthalmoplegia, Chronic Progressive External (D017246) Child7  LSDB C:5
..expandOphthalmoplegia, External, and Myopia (C564087)
..expandOphthalmoplegia, Familial Static (C563500)
..expandOphthalmoplegia, Familial Total, with Iris Transillumination (C563499)
..expandOphthalmoplegia, Progressive, with Scrotal Tongue and Mental Deficiency (C563498)
..expandOphthalmoplegic Migraine (D060486)
..expandOphthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria (C564925)  LSDB  L: 00410;
..expandOptic Atrophy, Deafness, Ophthalmoplegia, and Myopathy (C565117)
..expandProgressive External Ophthalmoplegia With Hypogonadism (C563576)
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1 (C563575)  LSDB  L: 00117;
..expandProgressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive (C564926)  LSDB  L: 00118;
..expandSchimke X-linked mental retardation syndrome (C536630)
..expandSensory ataxic neuropathy, dysarthria, and ophthalmoparesis (C537583)  LSDB  L: 00042;
..expandSupranuclear Palsy, Progressive (D013494) Child5
..expandTreft Sanborn Carey syndrome (C536544)
..expandWieacker syndrome (C536703)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:9312
Name:Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 1
Definition:
Alternative IDs:OMIM:157640
ParentIDs:MESH:D009886|MESH:D028361
TreeNumbers:C10.292.562.750/C563575 |C10.597.622.447/C563575 |C11.590.472/C563575 |C18.452.660/C563575 |C23.888.592.636.447/C563575
Synonyms:PEOA1 |Progressive External Ophthalmoplegia, Autosomal Dominant, 1
Slim Mappings:Eye disease|Metabolic disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C563575
MeSH: C563575
OMIM: 157640;
MSeqDR LSDB: 00117;  
Genes: POLG;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0003581Adult onset
3 HP:0002067Bradykinesia
4 HP:0000518Cataract
NAMDC:  Cataracts
5 HP:0003688Decreased activity of cytochrome C oxidase in muscle tissue
6 HP:0000716Depression
NAMDC:  Depression
7 HP:0001260Dysarthria
NAMDC:  Dysarthria
8 HP:0002015Dysphagia
NAMDC:  Dysphagia
9 HP:0003458EMG: myopathic abnormalities
10 HP:0003546Exercise intolerance
NAMDC:  Exercise intolerance
11 HP:0010628Facial palsy
12 HP:0002066Gait ataxia
13 HP:0002578Gastroparesis
NAMDC:  Gastroparesis
14 HP:0000815Hypergonadotropic hypogonadism
15 HP:0001265Hyporeflexia
16 HP:0006858Impaired distal proprioception
17 HP:0006886Impaired distal vibration sensation
18 HP:0002151Increased serum lactate
19 HP:0003557Increased variability in muscle fiber diameter
20 HP:0003690Limb muscle weakness
21 HP:0003689Multiple mitochondrial DNA deletions
22 HP:0003713Muscle fiber necrosis
23 HP:0002548Parkinsonism with favorable response to dopaminergic medication
24 HP:0001761Pes cavus
25 HP:0003812Phenotypic variability
26 HP:0008209Premature ovarian failure
27 HP:0000786Primary amenorrhea
28 HP:0003676Progressive
29 HP:0000590Progressive external ophthalmoplegia
30 HP:0003323Progressive muscle weakness
31 HP:0000508Ptosis
NAMDC:  Ptosis
32 HP:0003200Ragged-red muscle fibers
33 HP:0002322Resting tremor
34 HP:0002063Rigidity
35 HP:0000869Secondary amenorrhea
36 HP:0000407Sensorineural hearing impairment
NAMDC:  Sensorineural hearing loss
37 HP:0003390Sensory axonal neuropathy
38 HP:0003202Skeletal muscle atrophy
39 HP:0003548Subsarcolemmal accumulations of abnormally shaped mitochondria
40 HP:0000029Testicular atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly)-1FANCI;POLGBenign/Likely benign2307441RCV000755650; RCV000755650; RCV000386578; RCV000755650; RCV000755650; RCV000020476; RCV000469563; RCV000755650; RCV000715555; RCV000755650; RCV000676317; RCV000118018; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C0015625, Orphanet:ORPHA84,SNOMED CT:30575002; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED 158986182689861826HGMD:CM042765,UniProtKB (protein):P54098#VAR_014909C0015625 Fanconi anemia;
NM_002693.2(POLG):c.3612_3613insAACT (p.Gly1205Asnfs)5428POLGPathogenic886043241RCV000339912; RCV000290739; RCV000408338; RCV000385008; RCV000345512; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158986063789860638-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.3131T>C (p.Val1044Ala)5428POLGUncertain significance150233690RCV000515366; RCV000515366; RCV000678829; RCV000515366; RCV000515366; RCV000234341; RCV000515366; RCV000720436; RCV000515366; RCV000118016; RCV000188602; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; Human Phenotype Ontology:HP:0002353,MedGen:C0151611; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203158986230489862304-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2869G>T (p.Ala957Ser)5428POLGPathogenic121918051RCV000014462; NMedGen:C1834846,OMIM:157640158986410989864109OMIM Allelic Variant:174763.0014,UniProtKB (protein):P54098#VAR_023682C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)5428POLGPathogenic113994099RCV000014439; RCV000508934; RCV000676321; NMedGen:C1834846,OMIM:157640; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:CN517202158986411489864114OMIM Allelic Variant:174763.0001,UniProtKB (protein):P54098#VAR_012156C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2601T>C (p.Pro867=)5428POLGConflicting interpretations of pathogenicity201749977RCV000709782; RCV000709782; RCV000709782; RCV000403402; RCV000709782; RCV000709782; RCV000734626; RCV000127526; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:CN239393; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595; MedGen:CN517202; MedGen:CN169374158986448989864489-CN169374 not specified;
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser)5428POLGPathogenic113994098RCV000515163; RCV000678386; RCV000014449; RCV000515163; RCV000515163; RCV000014452; RCV000515163; RCV000509449; RCV000363602; RCV000014450; RCV000014451; RCV000515163; RCV000717974; RCV000515163; RCV000188580; NMedGen:C1834846,OMIM:157640; MedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C3150914,OMIM:613662; na; MedGen:CN239393; MedGen:C1868097; MedGen:C0205710,OMIM:2158986502389865023OMIM Allelic Variant:174763.0006,UniProtKB (protein):P54098#VAR_023675C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys)5428POLGConflicting interpretations of pathogenicity41549716RCV000014463; RCV000464026; RCV000718004; RCV000224425; RCV000175036; NMedGen:C1834846,OMIM:157640; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN517202; MedGen:CN169374158986507389865073OMIM Allelic Variant:174763.0015,UniProtKB (protein):P54098#VAR_023674C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser)5428POLGConflicting interpretations of pathogenicity138457939RCV000515256; RCV000515256; RCV000515256; RCV000515256; RCV000231376; RCV000515256; RCV000716683; RCV000515256; RCV000712791; RCV000188567; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Pheno158986669389866693-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1646delT (p.Leu549Cysfs)5428POLGLikely pathogenic1555453538RCV000678335; RCV000521597; NMedGen:C1834846,OMIM:157640; MedGen:CN517202158986990989869909-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1615_1623delTTTCAACAA (p.Phe539_Gln541del)5428POLGUncertain significance754586219RCV000662161; RCV000662162; RCV000662163; NMedGen:C1834846,OMIM:157640; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001158986993289869940-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1532G>A (p.Ser511Asn)5428POLGPathogenic121918055RCV000014468; NMedGen:C1834846,OMIM:157640158987019689870196OMIM Allelic Variant:174763.0020,UniProtKB (protein):P54098#VAR_058878C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)5428POLGPathogenic/Likely pathogenic113994095RCV000184011; RCV000515354; RCV000014440; RCV000515354; RCV000515354; RCV000515354; RCV000508942; RCV000014442; RCV000709980; RCV000347876; RCV000735201; RCV000014443; RCV000515354; RCV000720159; RCV000014441; RCV000515354; RCV000188658; NMedGen:C1834846,OMIM:157640; MedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0751651, Orphanet:ORPHA68380; MedGen:C1843852; na; MedGen:CN239393; na; MedGen:C020158987043289870432OMIM Allelic Variant:174763.0002,UniProtKB (protein):P54098#VAR_012155C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.1174C>G (p.Leu392Val)5428POLGConflicting interpretations of pathogenicity145289229RCV000515415; RCV000515415; RCV000515415; RCV000515415; RCV000475753; RCV000515415; RCV000720206; RCV000515415; RCV000710181; RCV000188651; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C4551995,OMIM:603041; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Pheno158987176389871763-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.460G>A (p.Ala154Thr)5428POLGUncertain significance753858440RCV000661981; RCV000661980; RCV000692834; RCV000720704; RCV000188635; NMedGen:C1834846,OMIM:157640; MedGen:C4551995,OMIM:603041; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:CN169374158987652689876526-C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1;
NM_002693.2(POLG):c.260T>C (p.Ile87Thr)5428POLGUncertain significance-1RCV000709970; RCV000709970; RCV000709970; RCV000709970; RCV000716139; RCV000709970; NMedGen:C1834846,OMIM:157640; MedGen:C4225153,OMIM:258450; MedGen:C3150914,OMIM:613662; MedGen:C0205710,OMIM:203700, Orphanet:ORPHA726,SNOMED CT:20415001; Human Phenotype Ontology:HP:0001250,MedGen:C0036572; MedGen:C1843851,OMIM:607459, Orphanet:ORPHA70595158987672689876726-
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140521 MSeqDR Search EnsemblPOLG1715polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00117

*Click on gene and variants to check details. Or view all variants in new page