MSeqDR Mitochondrial Disease Portal


 
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Disease Browser
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Mitochondrial Diseases (D028361)
Parent Node:
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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.2869G>T (p.Ala957Ser)5428POLGPathogenic121918051RCV000014462; NMedGen:C1834846,OMIM:157640158986410989864109NM_002693.2:c.2869G>TNP_002684.1:p.Ala957SerNC_000015.9:g.89864109C>AOMIM Allelic Variant:174763.0014C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys)5428POLGPathogenic113994099RCV000014439; NMedGen:C1834846,OMIM:157640158986411489864114NM_002693.2:c.2864A>GNP_002684.1:p.Tyr955CysNC_000015.9:g.89864114T>COMIM Allelic Variant:174763.0001C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys)5428POLGBenign;Likely benign;Uncertain significance41549716RCV000014463; RCV000175036; NMedGen:C1834846,OMIM:157640; MedGen:CN169374158986507389865073NM_002693.2:c.2492A>GNP_002684.1:p.Tyr831CysNC_000015.9:g.89865073T>COMIM Allelic Variant:174763.0015C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; CN169374 not specified
NM_002693.2(POLG):c.1532G>A (p.Ser511Asn)5428POLGPathogenic121918055RCV000014468; NMedGen:C1834846,OMIM:157640158987019689870196NM_002693.2:c.1532G>ANP_002684.1:p.Ser511AsnNC_000015.9:g.89870196C>TOMIM Allelic Variant:174763.0020C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr)5428POLGPathogenic113994095RCV000014441; RCV000184011; RCV000014440; RCV000014442; RCV000014443; RCV000188658; NMedGen:C0205710,OMIM:203700,ORPHA:726,SNOMED CT:20415001; MedGen:C1834846,OMIM:157640; MedGen:C1843851,OMIM:607459,ORPHA:70595; MedGen:C1843852; MedGen:C1850303,OMIM:258450,ORPHA:254886; MedGen:CN221809158987043289870432NM_002693.2:c.1399G>ANP_002684.1:p.Ala467ThrNC_000015.9:g.89870432C>TOMIM Allelic Variant:174763.0002C1834846 157640 Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1; C1850303 258450 Cerebellar ataxia infantile with progressive external ophthalmoplegia; C1843852 Myoclonic epilepsy myopathy sensory ataxia; CN221
MSeqDR Portal
Ensembl Gene IDAssociated Gene NameLSDB GenesLSDB VariantsclinVar hitsDescriptionDisease id
ENSG00000140521 MSeqDR Search EnsemblPOLG175polymerase (DNA directed), gamma [Source:HGNC Symbol;Acc:9179]00117

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