PEOA4
MCID: PRG040
MIFTS: 53

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 (PEOA4)

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 57 13
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 4 12 29 6 15
Peoa4 57 12 73
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 4 73 71
Chronic Progressive External Ophthalmoplegia 73 71
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 4 39
Progressive External Ophthalmoplegia, Autosomal Dominant 4 57
Autosomal Dominant Progressive External Ophthalmoplegia 4 12
Progressive External Ophthalmoplegia Autosomal Dominant 4 73
Ocular Myopathy of Von Graefe-Fuchs 73
Mitochondrial Ocular Myopathy 73
Kearns-Sayre Syndrome 71
Graefe Disease 73
Cpeo 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
progressive disorder
variable age at onset (range infancy to adult)


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity progressive adult onset


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 73 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 4: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4, also known as autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 4, is related to ptosis and chronic progressive external ophthalmoplegia, and has symptoms including seizures, muscle weakness and ophthalmoplegia. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 is POLG2 (DNA Polymerase Gamma 2, Accessory Subunit), and among its related pathways/superpathways are Mitochondrial Gene Expression and Propanoate metabolism. Affiliated tissues include skeletal muscle, liver and eye, and related phenotypes are failure to thrive and constipation

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in heterozygous mutation in POLG2 on chromosome 17q23.3.

OMIM® : 57 Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). (610131) (Updated 05-Mar-2021)

Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Diseases in the Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 family:

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5

Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 159)
# Related Disease Score Top Affiliating Genes
1 ptosis 31.0 TYMP TWNK RRM2B POLG
2 chronic progressive external ophthalmoplegia 30.9 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
3 myopathy 30.2 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 30.2 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
5 lactic acidosis 30.1 SUCLG1 SLC25A4 RRM2B POLG2 POLG
6 kearns-sayre syndrome 30.1 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
7 mitochondrial neurogastrointestinal encephalomyopathy 29.9 TYMP RRM2B POLG
8 optic nerve disease 29.9 TWNK POLG MT-ND2 IMMT
9 mitochondrial disorders 29.8 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
10 autosomal dominant progressive external ophthalmoplegia 29.6 TWNK SLC25A4 RRM2B POLG2 POLG
11 mitochondrial encephalomyopathy 29.5 TYMP TWNK SUCLG1 SUCLA2 POLG MT-ND2
12 mitochondrial metabolism disease 29.4 TWNK SUCLG1 SUCLA2 SLC25A4 RRM2B POLG2
13 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.4 TYMP TWNK POLG MT-ND2 DGUOK
14 neuropathy 29.4 TYMP TWNK SLC25A4 POLG MT-ND2 MPV17
15 mitochondrial myopathy 28.5 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
16 3-methylglutaconic aciduria, type iii 28.4 TYMP TWNK SUCLG1 SUCLA2 SLC25A4 POLG2
17 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 28.2 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
18 leigh syndrome 28.1 TWNK SUCLG1 SUCLA2 RRM2B POLG2 POLG
19 leber hereditary optic neuropathy, modifier of 27.7 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
21 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.7
22 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.7
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.7
24 ocular muscular dystrophy 11.4
25 mitochondrial dna-related progressive external ophthalmoplegia 11.4
26 strabismus 11.3
27 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.2
28 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.2
29 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.2
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.2
31 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.2
32 mechanical strabismus 10.5
33 dysphagia 10.5
34 branchiootic syndrome 1 10.4
35 alternating exotropia 10.4
36 exotropia 10.4
37 myasthenia gravis 10.4
38 retinitis pigmentosa 10.4
39 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
40 neuroretinitis 10.4
41 retinitis 10.4
42 hereditary optic neuropathy 10.4
43 ataxia and polyneuropathy, adult-onset 10.3
44 lagophthalmos 10.3
45 peripheral nervous system disease 10.3
46 keratitis, hereditary 10.2
47 optic atrophy 1 10.2
48 atrioventricular block 10.2
49 sensorineural hearing loss 10.2
50 monocular esotropia 10.2

Graphical network of the top 20 diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:



Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4

Symptoms & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 occasional (7.5%) HP:0001508
2 constipation 31 occasional (7.5%) HP:0002019
3 global developmental delay 31 occasional (7.5%) HP:0001263
4 gastroesophageal reflux 31 occasional (7.5%) HP:0002020
5 elevated hepatic transaminase 31 occasional (7.5%) HP:0002910
6 abnormality of the liver 31 occasional (7.5%) HP:0001392
7 cerebellar atrophy 31 occasional (7.5%) HP:0001272
8 generalized hypotonia 31 occasional (7.5%) HP:0001290
9 gastroparesis 31 occasional (7.5%) HP:0002578
10 cerebral visual impairment 31 occasional (7.5%) HP:0100704
11 seizure 31 occasional (7.5%) HP:0001250
12 ptosis 31 HP:0000508
13 facial palsy 31 HP:0010628
14 elevated serum creatine kinase 31 HP:0003236
15 progressive external ophthalmoplegia 31 HP:0000590
16 myalgia 31 HP:0003326
17 arrhythmia 31 HP:0011675
18 increased serum lactate 31 HP:0002151
19 limb muscle weakness 31 HP:0003690
20 progressive muscle weakness 31 HP:0003323
21 exercise intolerance 31 HP:0003546
22 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
23 impaired glucose tolerance 31 HP:0040270
24 multiple mitochondrial dna deletions 31 HP:0003689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)
cortical blindness (1 patient)

Muscle Soft Tissue:
limb muscle weakness
exercise intolerance
muscle pain
facial muscle weakness
muscle weakness, progressive
more
Cardiovascular Heart:
cardiac conduction defects

Growth Other:
failure to thrive (in some patients)

Abdomen Liver:
liver disease (in some patients)

Laboratory Abnormalities:
increased serum lactate
increased serum creatine kinase
abnormal liver enzymes (in some patients)

Endocrine Features:
impaired glucose tolerance

Neurologic Central Nervous System:
seizures (in some patients)
developmental delay (in some patients)
hypotonia (in some patients)
cerebellar atrophy (1 patient)

Abdomen Gastrointestinal:
gastroesophageal reflux (in some patients)
constipation (in some patients)
delayed gastric emptying (in some patients)

Clinical features from OMIM®:

610131 (Updated 05-Mar-2021)

UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:


seizures, muscle weakness, ophthalmoplegia, myalgia, cerebellar ataxia, facial paresis

MGI Mouse Phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.7 DGUOK MPV17 MT-ND2 POLG POLG2 RRM2B
2 mortality/aging MP:0010768 9.36 DGUOK INTS2 MPV17 POLG POLG2 RRM2B

Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
2 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
3 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
4 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940

Search NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

# Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 4 29 POLG2

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

40
Skeletal Muscle, Liver, Eye, Retina, Brain, Heart, Endothelial

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

(show top 50) (show all 525)
# Title Authors PMID Year
1
Biochemical analysis of human POLG2 variants associated with mitochondrial disease. 57 6
21555342 2011
2
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. 6 57
16685652 2006
3
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response. 61
32868563 2021
4
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt. 61
33127537 2021
5
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India. 61
33469851 2021
6
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. 61
33486010 2021
7
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. 61
33396418 2020
8
Strabismus in chronic progressive external ophthalmoplegia. 61
33191655 2020
9
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia. 61
33121830 2020
10
Extraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations. 61
33057669 2020
11
Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia. 61
32742407 2020
12
Surgical management of ptosis in chronic progressive external ophthalmoplegia. 61
32847396 2020
13
A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. 61
31348995 2020
14
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report. 61
32600829 2020
15
Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy. 61
32272361 2020
16
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses. 61
32349064 2020
17
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1. 61
32310184 2020
18
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia. 61
32063883 2020
19
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. 61
33013660 2020
20
Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. 61
31843253 2020
21
Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations. 61
31755379 2020
22
Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 61
31521625 2019
23
Exophthalmos in Kearns-Sayre syndrome. 61
31158487 2019
24
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. 61
31488384 2019
25
Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study. 61
31367202 2019
26
Optical coherence tomography findings in chronic progressive external ophthalmoplegia. 61
31140991 2019
27
Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia. 61
30962064 2019
28
Muscle pain in mitochondrial diseases: a picture from the Italian network. 61
30710167 2019
29
Late-onset presentation of POLG1-associated mitochondrial disease. 61
30936349 2019
30
[Mitochondrial diseases]. 61
30643957 2019
31
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. 61
30956829 2019
32
A rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy. 61
31263856 2019
33
Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases. 61
31344055 2019
34
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 61
29246868 2019
35
Teaching Video NeuroImages: MT-TL1 mutation presenting as chronic progressive external ophthalmoplegia. 61
30665919 2019
36
Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia. 61
29582258 2019
37
Ophthalmoplegia in Mitochondrial Disease. 61
30450853 2018
38
Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder. 61
29892051 2018
39
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. 61
29333908 2018
40
Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient. 61
30340744 2018
41
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. 61
29300676 2018
42
[Diagnostic and Therapeutic Approaches for Mitochondrial Diseases]. 61
30248691 2018
43
Phenotypic and Genotypic Heterogeneity of RRM2B Variants. 61
29241262 2018
44
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA. 61
29567350 2018
45
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. 61
29398297 2018
46
[Mitochondrial Dysfunctions and Role of Coenzyme Q10 in Patients with Glaucoma]. 61
29448286 2018
47
Anesthetic management of a parturient with Kearns-Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature. 61
29416473 2018
48
Mitochondrial Disorder: Kearns-Sayre Syndrome. 61
30578503 2018
49
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. 61
29272804 2018
50
[Chronic Progressive External Ophthalmoplegia Ptosis: Problems with Diagnostics and Treatment]. 61
29373868 2018

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

6 (show all 26)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POLG2 NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu) SNV Pathogenic 5276 rs104894632 17:62474046-62474046 17:64477929-64477929
2 POLG2 NM_007215.4(POLG2):c.614C>G (p.Pro205Arg) SNV Pathogenic 40247 rs397514659 17:62489087-62489087 17:64492970-64492970
3 POLG2 NM_007215.4(POLG2):c.1423_1424del (p.Leu475fs) Deletion Pathogenic 40249 rs1568079613 17:62473974-62473975 17:64477857-64477858
4 POLG2 NM_007215.4(POLG2):c.673C>T (p.Arg225Ter) SNV Uncertain significance 488881 rs371515325 17:62489028-62489028 17:64492911-64492911
5 POLG2 NM_007215.4(POLG2):c.1343_1347del (p.Thr447_Leu448insTer) Deletion Uncertain significance 632287 rs1568079693 17:62474051-62474055 17:64477934-64477938
6 POLG2 NM_007215.4(POLG2):c.-85C>T SNV Uncertain significance 324565 rs886053252 17:62493171-62493171 17:64497053-64497053
7 POLG2 NM_007215.4(POLG2):c.-66C>T SNV Uncertain significance 324563 rs886053251 17:62493152-62493152 17:64497034-64497034
8 POLG2 NM_007215.4(POLG2):c.1315T>C (p.Phe439Leu) SNV Uncertain significance 889720 17:62474083-62474083 17:64477966-64477966
9 POLG2 NM_007215.4(POLG2):c.970-4G>A SNV Uncertain significance 889721 17:62481989-62481989 17:64485872-64485872
10 POLG2 NM_007215.4(POLG2):c.381G>A (p.Pro127=) SNV Uncertain significance 891271 17:62492706-62492706 17:64496588-64496588
11 POLG2 NM_007215.4(POLG2):c.366G>T (p.Arg122Ser) SNV Uncertain significance 891272 17:62492721-62492721 17:64496603-64496603
12 POLG2 NM_007215.4(POLG2):c.358G>A (p.Val120Met) SNV Uncertain significance 324561 rs782034872 17:62492729-62492729 17:64496611-64496611
13 POLG2 NM_007215.4(POLG2):c.562+11C>T SNV Uncertain significance 384209 rs782336056 17:62492514-62492514 17:64496396-64496396
14 POLG2 NM_007215.4(POLG2):c.674G>A (p.Arg225Gln) SNV Likely benign 324559 rs148101254 17:62489027-62489027 17:64492910-64492910
15 POLG2 NM_007215.4(POLG2):c.1417G>A (p.Asp473Asn) SNV Likely benign 215019 rs563130304 17:62473981-62473981 17:64477864-64477864
16 POLG2 NM_007215.4(POLG2):c.496C>G (p.Gln166Glu) SNV Likely benign 324560 rs370683331 17:62492591-62492591 17:64496473-64496473
17 POLG2 NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) SNV Benign/Likely benign 40248 rs201936720 17:62481850-62481850 17:64485733-64485733
18 POLG2 NM_007215.4(POLG2):c.-61G>A SNV Benign 324562 rs552693721 17:62493147-62493147 17:64497029-64497029
19 POLG2 NM_007215.4(POLG2):c.-70T>C SNV Benign 892465 17:62493156-62493156 17:64497038-64497038
20 POLG2 NM_007215.4(POLG2):c.-81T>C SNV Benign 324564 rs9897606 17:62493167-62493167 17:64497049-64497049
21 POLG2 NM_007215.4(POLG2):c.1269C>T (p.Ser423=) SNV Benign 138784 rs61733782 17:62476429-62476429 17:64480312-64480312
22 POLG2 NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) SNV Benign 138782 rs1427463 17:62492582-62492582 17:64496464-64496464
23 POLG2 NM_007215.4(POLG2):c.457C>G (p.Leu153Val) SNV Benign 215017 rs149446102 17:62492630-62492630 17:64496512-64496512
24 POLG2 NM_007215.4(POLG2):c.397C>T (p.His133Tyr) SNV Benign 215023 rs112984118 17:62492690-62492690 17:64496572-64496572
25 POLG2 NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) SNV Benign 215022 rs144148008 17:62492906-62492906 17:64496788-64496788
26 POLG2 NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) SNV Benign 138783 rs17850455 17:62476451-62476451 17:64480334-64480334

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4:

73
# Symbol AA change Variation ID SNP ID
1 POLG2 p.Gly451Glu VAR_029364 rs104894632

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Pathways related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.27 TWNK SSBP1 POLG2
2 10.79 SUCLG1 SUCLA2
3
Show member pathways
10.48 SUCLG1 SUCLA2
4 9.9 RRM2B POLG

GO Terms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Cellular components related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 9.63 TWNK SUCLG1 SUCLA2 SSBP1 POLG2 DGUOK
2 mitochondrial inner membrane GO:0005743 9.62 SLC25A4 MT-ND2 MPV17 IMMT
3 mitochondrion GO:0005739 9.4 TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4 RRM2B
4 gamma DNA polymerase complex GO:0005760 9.26 POLG2 POLG
5 mitochondrial nucleoid GO:0042645 9.26 TWNK SSBP1 POLG2 POLG

Biological processes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 9.46 POLG2 POLG
2 tricarboxylic acid cycle GO:0006099 9.43 SUCLG1 SUCLA2
3 mitochondrion organization GO:0007005 9.43 TWNK SSBP1 POLG2
4 DNA-dependent DNA replication GO:0006261 9.4 POLG2 POLG
5 mitochondrion morphogenesis GO:0070584 9.37 SSBP1 POLG2
6 DNA replication GO:0006260 9.35 TWNK SSBP1 RRM2B POLG2 POLG
7 mitochondrial genome maintenance GO:0000002 9.33 TYMP SLC25A4 MPV17
8 DNA unwinding involved in DNA replication GO:0006268 9.32 TWNK SSBP1
9 mitochondrial DNA replication GO:0006264 9.02 TWNK SSBP1 RRM2B POLG2 POLG

Molecular functions related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 9.16 POLG2 POLG
2 succinate-CoA ligase (GDP-forming) activity GO:0004776 8.96 SUCLG1 SUCLA2
3 succinate-CoA ligase (ADP-forming) activity GO:0004775 8.62 SUCLG1 SUCLA2

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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