ADPEO
MCID: ATS025
MIFTS: 45

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO)

Categories: Eye diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards integrated aliases for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 58 6
Adpeo 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Inborn errors of metabolism


Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards based summary : Autosomal Dominant Progressive External Ophthalmoplegia, also known as adpeo, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Spinocerebellar ataxia. Affiliated tissues include eye, liver and skeletal muscle, and related phenotypes are ptosis and external ophthalmoplegia

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

Diseases in the Total Internal Ophthalmoplegia family:

Chronic Progressive External Ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia

Diseases related to Autosomal Dominant Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 71)
# Related Disease Score Top Affiliating Genes
1 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 32.3 TWNK SLC25A4 RRM2B POLG2 POLG
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 32.3 TWNK SLC25A4 RRM2B POLG2 POLG MILR1
3 dysphagia 30.6 TWNK POLG
4 polg-related disorders 30.5 TWNK POLG
5 axonal neuropathy 30.4 TWNK SLC25A4 RRM2B POLG
6 ptosis 30.3 TWNK RRM2B POLG OPA1
7 mitochondrial myopathy 29.9 TWNK TFAM SLC25A4 RRM2B POLG2 POLG
8 mitochondrial metabolism disease 29.9 TWNK SLC25A4 RRM2B POLG2 POLG
9 chronic progressive external ophthalmoplegia 29.8 TWNK TFAM SLC25A4 RRM2B POLRMT POLG2
10 kearns-sayre syndrome 29.8 TWNK TFAM SLC25A4 RRM2B POLRMT POLG2
11 myopathy 29.4 TWNK TFAM SLC25A4 RRM2B POLG2 POLG
12 mitochondrial disorders 29.1 TWNK TFAM SLC25A4 RRM2B POLG2 POLG
13 mitochondrial dna depletion syndrome 28.5 TWNK TFAM SLC25A4 RRM2B POLG2 POLG
14 mitochondrial dna depletion syndrome 4a 28.5 TWNK TFAM SLC25A4 RRM2B POLRMT POLG2
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.9
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.9
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.8
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.7
19 parkinsonism 10.4
20 optic atrophy 1 10.3
21 hypogonadism 10.3
22 camptocormism 10.2 RRM2B POLG
23 myotonic cataract 10.2 TWNK POLG
24 ataxia neuropathy spectrum 10.2 TWNK POLG
25 central nervous system origin vertigo 10.2 SLC25A4 POLG
26 mitochondrial dna depletion syndrome 16 10.2 POLG2 MILR1
27 mitochondrial dna depletion syndrome 12a 10.2 SLC25A4 POLG
28 mitochondrial neurogastrointestinal encephalomyopathy 10.2 RRM2B POLG
29 mitochondrial complex iii deficiency, nuclear type 2 10.2 TWNK POLG
30 mitochondrial dna depletion syndrome 1 10.1 POLG FANCI
31 ichthyosis, x-linked 10.1
32 ataxia and polyneuropathy, adult-onset 10.1
33 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
34 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 10.1
35 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
36 myoglobinuria 10.1
37 amenorrhea 10.1
38 autosomal dominant cerebellar ataxia 10.1
39 ichthyosis 10.1
40 schizoaffective disorder 10.1
41 dystonia 10.1
42 peripheral nervous system disease 10.1
43 cataract 10.1
44 neuropathy 10.1
45 rrm2b-related mitochondrial disease 10.1
46 tremor 10.1
47 mitochondrial dna depletion syndrome 12b 10.1 SLC25A4 POLG
48 pearson marrow-pancreas syndrome 10.1 TWNK RRM2B POLG
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.1 POLG FANCI
50 visual cortex disease 10.1 POLG2 POLG

Graphical network of the top 20 diseases related to Autosomal Dominant Progressive External Ophthalmoplegia:



Diseases related to Autosomal Dominant Progressive External Ophthalmoplegia

Symptoms & Phenotypes for Autosomal Dominant Progressive External Ophthalmoplegia

Human phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

58 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 external ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000544
3 fatigue 58 31 frequent (33%) Frequent (79-30%) HP:0012378
4 emg: myopathic abnormalities 58 31 frequent (33%) Frequent (79-30%) HP:0003458
5 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
6 mitochondrial myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003737
7 quadriceps muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003731
8 bradykinesia 58 31 frequent (33%) Frequent (79-30%) HP:0002067
9 exercise intolerance 58 31 frequent (33%) Frequent (79-30%) HP:0003546
10 abnormality of the mitochondrion 58 31 frequent (33%) Frequent (79-30%) HP:0012103
11 shoulder girdle muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003547
12 hypomimic face 58 31 frequent (33%) Frequent (79-30%) HP:0000338
13 resting tremor 58 31 frequent (33%) Frequent (79-30%) HP:0002322
14 cytochrome c oxidase-negative muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003688
15 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%) HP:0001508
16 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
17 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
18 dysphagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002015
19 constipation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002019
20 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
21 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
22 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
23 gastroesophageal reflux 58 31 occasional (7.5%) Occasional (29-5%) HP:0002020
24 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
25 elevated serum creatine kinase 58 31 occasional (7.5%) Occasional (29-5%) HP:0003236
26 dilated cardiomyopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001644
27 easy fatigability 58 31 occasional (7.5%) Occasional (29-5%) HP:0003388
28 left ventricular hypertrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001712
29 myalgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0003326
30 increased serum lactate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002151
31 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
32 lethargy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001254
33 gait ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002066
34 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
35 atrial fibrillation 58 31 occasional (7.5%) Occasional (29-5%) HP:0005110
36 reduced ejection fraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0012664
37 generalized hypotonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001290
38 exertional dyspnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002875
39 frequent falls 58 31 occasional (7.5%) Occasional (29-5%) HP:0002359
40 gastroparesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002578
41 hypokinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002375
42 cogwheel rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002396
43 peripheral axonal neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003477
44 ventricular arrhythmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0004308
45 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
46 facial diplegia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001349
47 focal white matter lesions 58 31 occasional (7.5%) Occasional (29-5%) HP:0007042
48 diabetes mellitus 58 31 very rare (1%) Very rare (<4-1%) HP:0000819
49 hypothyroidism 58 31 very rare (1%) Very rare (<4-1%) HP:0000821
50 hypertonia 58 31 very rare (1%) Very rare (<4-1%) HP:0001276

MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 DNA2 OPA1 POLG POLG2 POLRMT RRM2B
2 embryo MP:0005380 9.7 OPA1 POLG POLG2 POLRMT RRM1 TFAM
3 mortality/aging MP:0010768 9.65 DNA2 FANCI OPA1 POLG POLG2 POLRMT
4 muscle MP:0005369 9.1 OPA1 POLG POLRMT RRM2B SLC25A4 TFAM

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards organs/tissues related to Autosomal Dominant Progressive External Ophthalmoplegia:

40
Eye, Liver, Skeletal Muscle, Cortex, Pancreas

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show top 50) (show all 105)
# Title Authors PMID Year
1
POLG-Related Disorders 61 6
20301791 2010
2
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 61 6
17420318 2007
3
Understanding the Epilepsy in POLG Related Disease. 6
28837072 2017
4
Clinical and molecular features of POLG-related mitochondrial disease. 6
23545419 2013
5
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 6
21880868 2011
6
Polymerase gamma 1 mutations: clinical correlations. 6
20220442 2010
7
The unfolding clinical spectrum of POLG mutations. 6
19578034 2009
8
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 6
19478085 2009
9
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 6
15351195 2004
10
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 6
12210792 2002
11
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. 6
11897778 2002
12
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 6
11431686 2001
13
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. 6
2067633 1991
14
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. 6
2725645 1989
15
Ocular myopathy with hypogonadism. 6
14467368 1962
16
Rod bipolar cell dysfunction in POLG retinopathy. 61
32567010 2021
17
Identification of a novel heterozygous guanosine monophosphate reductase (GMPR) variant in a patient with a late-onset disorder of mitochondrial DNA maintenance. 61
31600844 2020
18
Corrigendum to: Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase. 61
31942986 2020
19
Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase. 61
30496414 2019
20
Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation. 61
29654543 2019
21
POLG-related disorders and their neurological manifestations. 61
30451971 2019
22
A rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy. 61
31263856 2019
23
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function. 61
28947214 2017
24
Dystonia in a Patient with Autosomal-Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene. 61
30838265 2017
25
Mitochondrial ANT-1 related adPEO leading to cognitive impairment: is there a link? 61
28690391 2017
26
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. 61
27693233 2016
27
Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change. 61
26838077 2016
28
Abnormal Glycosylation Profile and High Alpha-Fetoprotein in a Patient with Twinkle Variants. 61
26920903 2016
29
Misfolding of mutant adenine nucleotide translocase in yeast supports a novel mechanism of Ant1-induced muscle diseases. 61
25833713 2015
30
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. 61
24091712 2014
31
Twinkle mutation in an Italian family with external progressive ophthalmoplegia and parkinsonism: a case report and an update on the state of art. 61
24076137 2013
32
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. 61
24018892 2013
33
Progressive external ophthalmoplegia (PEO) due to a mutation in the C10orf2 (PEO1) gene mimicking a myasthenic crisis. 61
24014582 2013
34
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits. 61
22155748 2012
35
Modeling pathogenic mutations of human twinkle in Drosophila suggests an apoptosis role in response to mitochondrial defects. 61
22952820 2012
36
A hybrid model to study pathological mutations of the human ADP/ATP carriers. 61
21549803 2011
37
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. 61
21951382 2011
38
adPEO mutations in ANT1 impair ADP-ATP translocation in muscle mitochondria. 61
21586654 2011
39
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 61
20880070 2011
40
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. 61
21519523 2011
41
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 61
20479361 2010
42
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. 61
19705478 2010
43
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 61
19853444 2009
44
Suppression of mitochondrial DNA instability of autosomal dominant forms of progressive external ophthalmoplegia-associated ANT1 mutations in Podospora anserina. 61
19687137 2009
45
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. 61
19664747 2009
46
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia. 61
19428252 2009
47
Functional importance of the conserved N-terminal domain of the mitochondrial replicative DNA helicase. 61
19063859 2009
48
Structure-function defects of the twinkle amino-terminal region in progressive external ophthalmoplegia. 61
19084593 2009
49
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. 61
18971204 2009
50
Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases. 61
18809618 2008

Variations for Autosomal Dominant Progressive External Ophthalmoplegia

ClinVar genetic disease variations for Autosomal Dominant Progressive External Ophthalmoplegia:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Pathogenic 206528 rs144500145 GRCh37: 15:89865011-89865011
GRCh38: 15:89321780-89321780
2 POLG NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic 13497 rs121918044 GRCh37: 15:89872286-89872286
GRCh38: 15:89329055-89329055
3 POLG NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) SNV Pathogenic 13508 rs121918051 GRCh37: 15:89864109-89864109
GRCh38: 15:89320878-89320878
4 POLG NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) SNV Pathogenic 13514 rs121918055 GRCh37: 15:89870196-89870196
GRCh38: 15:89326965-89326965
5 POLG NM_002693.2(POLG):c.2669A>C (p.Asp890Ala) SNV Pathogenic 619422 rs1567186779 GRCh37: 15:89864421-89864421
GRCh38: 15:89321190-89321190
6 TWNK NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) SNV Pathogenic 694438 rs111033574 GRCh37: 10:102749579-102749579
GRCh38: 10:100989822-100989822
7 POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) SNV Pathogenic 13495 rs113994099 GRCh37: 15:89864114-89864114
GRCh38: 15:89320883-89320883
8 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
9 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
10 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
11 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
12 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
13 POLG NM_002693.2(POLG):c.915C>G (p.Ser305Arg) SNV Pathogenic 206588 rs769410130 GRCh37: 15:89872282-89872282
GRCh38: 15:89329051-89329051
14 POLG NM_002693.3(POLG):c.3286C>T SNV Likely pathogenic 206556 rs201732356 GRCh37: 15:89861968-89861968
GRCh38: 15:89318737-89318737
15 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Likely pathogenic 13513 rs121918054 GRCh37: 15:89866691-89866691
GRCh38: 15:89323460-89323460
16 POLG NM_002693.2(POLG):c.1646del (p.Leu549fs) Deletion Likely pathogenic 449949 rs1555453538 GRCh37: 15:89869909-89869909
GRCh38: 15:89326678-89326678
17 POLG NM_002693.2(POLG):c.2678C>T (p.Ser893Phe) SNV Likely pathogenic 694423 rs1596352300 GRCh37: 15:89864412-89864412
GRCh38: 15:89321181-89321181
18 POLG NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) Deletion Uncertain significance 548594 rs754586219 GRCh37: 15:89869932-89869940
GRCh38: 15:89326701-89326709
19 POLG NM_002693.2(POLG):c.3211C>T (p.Arg1071Cys) SNV Uncertain significance 689441 rs762593265 GRCh37: 15:89862224-89862224
GRCh38: 15:89318993-89318993
20 POLG NM_002693.2(POLG):c.460G>A (p.Ala154Thr) SNV Uncertain significance 206578 rs753858440 GRCh37: 15:89876526-89876526
GRCh38: 15:89333295-89333295
21 POLG NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) SNV Uncertain significance 13509 rs41549716 GRCh37: 15:89865073-89865073
GRCh38: 15:89321842-89321842
22 POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Uncertain significance 206462 rs200257554 GRCh37: 15:89867387-89867387
GRCh38: 15:89324156-89324156
23 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Uncertain significance 193643 rs147407423 GRCh37: 15:89868793-89868793
GRCh38: 15:89325562-89325562
24 POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 GRCh37: 15:89872335-89872335
GRCh38: 15:89329104-89329104
25 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Uncertain significance 196354 rs61752784 GRCh37: 15:89873364-89873364
GRCh38: 15:89330133-89330133
26 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 GRCh37: 15:89862304-89862304
GRCh38: 15:89319073-89319073
27 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Uncertain significance 198151 rs145289229 GRCh37: 15:89871763-89871763
GRCh38: 15:89328532-89328532
28 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Uncertain significance 206516 rs138457939 GRCh37: 15:89866693-89866693
GRCh38: 15:89323462-89323462
29 POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 GRCh37: 15:89867118-89867118
GRCh38: 15:89323887-89323887
30 POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 GRCh37: 15:89867339-89867339
GRCh38: 15:89324108-89324108
31 POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 GRCh37: 15:89867349-89867349
GRCh38: 15:89324118-89324118
32 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Uncertain significance 451086 rs376306906 GRCh37: 15:89867381-89867381
GRCh38: 15:89324150-89324150
33 POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 GRCh37: 15:89868748-89868748
GRCh38: 15:89325517-89325517
34 POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 GRCh37: 15:89870158-89870158
GRCh38: 15:89326927-89326927
35 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Uncertain significance 206596 rs145843073 GRCh37: 15:89870429-89870429
GRCh38: 15:89327198-89327198
36 POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 GRCh37: 15:89870503-89870503
GRCh38: 15:89327272-89327272
37 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Uncertain significance 458687 rs775576189 GRCh37: 15:89870555-89870555
GRCh38: 15:89327324-89327324
38 POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 GRCh37: 15:89873438-89873438
GRCh38: 15:89330207-89330207
39 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Uncertain significance 195182 rs765472726 GRCh37: 15:89876954-89876954
GRCh38: 15:89333723-89333723
40 POLG , FANCI NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Uncertain significance 458718 rs148786642 GRCh37: 15:89860035-89860035
GRCh38: 15:89316804-89316804
41 POLG , FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 GRCh37: 15:89860052-89860052
GRCh38: 15:89316821-89316821
42 POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 GRCh37: 15:89860745-89860745
GRCh38: 15:89317514-89317514
43 POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 GRCh37: 15:89861829-89861829
GRCh38: 15:89318598-89318598
44 POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 GRCh37: 15:89861937-89861937
GRCh38: 15:89318706-89318706
45 POLG NM_002693.2(POLG):c.3204C>G (p.Asp1068Glu) SNV Uncertain significance 388649 rs1057523186 GRCh37: 15:89862231-89862231
GRCh38: 15:89319000-89319000
46 POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 GRCh37: 15:89862259-89862259
GRCh38: 15:89319028-89319028
47 POLG NM_002693.2(POLG):c.3098C>T (p.Ala1033Val) SNV Uncertain significance 206470 rs551708243 GRCh37: 15:89862465-89862465
GRCh38: 15:89319234-89319234
48 POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 GRCh37: 15:89862487-89862487
GRCh38: 15:89319256-89319256
49 POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 GRCh37: 15:89865205-89865205
GRCh38: 15:89321974-89321974
50 POLG NM_002693.2(POLG):c.328C>T (p.His110Tyr) SNV Uncertain significance 206619 rs139599587 GRCh37: 15:89876658-89876658
GRCh38: 15:89333427-89333427

Copy number variations for Autosomal Dominant Progressive External Ophthalmoplegia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 244121 8 93300000 117700000 Copy number RRM2B Autosomal-dominant progressive external ophthalmoplegia

Expression for Autosomal Dominant Progressive External Ophthalmoplegia

Search GEO for disease gene expression data for Autosomal Dominant Progressive External Ophthalmoplegia.

Pathways for Autosomal Dominant Progressive External Ophthalmoplegia

GO Terms for Autosomal Dominant Progressive External Ophthalmoplegia

Cellular components related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 TWNK TFAM SLC25A6 SLC25A4 RRM2B POLRMT
2 mitochondrial matrix GO:0005759 9.56 TWNK TFAM POLRMT POLG2
3 gamma DNA polymerase complex GO:0005760 9.33 POLG2 POLG DNA2
4 mitochondrial nucleoid GO:0042645 9.1 TWNK TFAM POLRMT POLG2 POLG DNA2

Biological processes related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 DNA repair GO:0006281 9.8 RRM2B POLG2 FANCI DNA2
2 cellular response to glucose stimulus GO:0071333 9.63 TWNK POLG OPA1
3 DNA biosynthetic process GO:0071897 9.55 POLG2 POLG
4 mitochondrion organization GO:0007005 9.55 TWNK TFAM POLRMT POLG2 OPA1
5 nucleobase-containing small molecule interconversion GO:0015949 9.54 RRM2B RRM1
6 DNA-dependent DNA replication GO:0006261 9.52 POLG2 POLG
7 mitochondrion morphogenesis GO:0070584 9.51 POLG2 OPA1
8 mitochondrial genome maintenance GO:0000002 9.48 SLC25A4 OPA1
9 mitochondrial ATP transmembrane transport GO:1990544 9.43 SLC25A6 SLC25A4
10 mitochondrial transcription GO:0006390 9.43 TWNK TFAM POLRMT
11 DNA replication GO:0006260 9.43 TWNK RRM2B RRM1 POLG2 POLG DNA2
12 mitochondrial ADP transmembrane transport GO:0140021 9.4 SLC25A6 SLC25A4
13 transcription initiation from mitochondrial promoter GO:0006391 9.37 TFAM POLRMT
14 deoxyribonucleotide biosynthetic process GO:0009263 9.32 RRM2B RRM1
15 mitochondrial DNA replication GO:0006264 9.02 TWNK RRM2B POLG2 POLG DNA2

Molecular functions related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP transmembrane transporter activity GO:0005347 9.4 SLC25A6 SLC25A4
2 DNA-directed DNA polymerase activity GO:0003887 9.37 POLG2 POLG
3 DNA polymerase binding GO:0070182 9.32 POLG2 FANCI
4 5'-3' DNA helicase activity GO:0043139 9.26 TWNK DNA2
5 ATP:ADP antiporter activity GO:0005471 9.16 SLC25A6 SLC25A4
6 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor GO:0004748 8.96 RRM2B RRM1
7 mitochondrial promoter sequence-specific DNA binding GO:0001018 8.62 TFAM POLRMT

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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