PEOA1
MCID: PRG130
MIFTS: 54

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 (PEOA1)

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 1:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 57
Peoa1 57 12 72
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 1 72 70
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 1 29 6
Autosomal Dominant Progressive External Ophthalmoplegia 1 12 15
Chronic Progressive External Ophthalmoplegia 72 70
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 1 39
Progressive External Ophthalmoplegia, Autosomal Dominant 1 57
Progressive External Ophthalmoplegia Autosomal Dominant 72
Ocular Myopathy of Von Graefe-Fuchs 72
Mitochondrial Ocular Myopathy 72
Kearns-Sayre Syndrome 70
Graefe Disease 72
Cpeo 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
adult onset
progressive disorder
highly variable phenotype
incidence of 1/100,000 in italy and finland
patients often have a more severe and complicated phenotype in addition to peo
hypogonadism reported in a large swedish kindred
see also autosomal recessive peob1
polg mutations account for approximately 45% of all peo cases

Inheritance:
autosomal dominant


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course progressive adult onset


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 72 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1: 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 1, also known as peoa1, is related to dysphagia and ptosis, and has symptoms including seizures, ataxia and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Mitochondrial Gene Expression and Propanoate metabolism. Affiliated tissues include skeletal muscle, eye and retina, and related phenotypes are ptosis and depressivity

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in heterozygous mutation in POLG on chromosome 15q26.1.

OMIM® : 57 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). (157640) (Updated 05-Apr-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 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 157)
# Related Disease Score Top Affiliating Genes
1 dysphagia 31.1 TWNK POLG
2 ptosis 30.8 TYMP TWNK RRM2B POLG
3 chronic progressive external ophthalmoplegia 30.3 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
4 optic nerve disease 30.3 TWNK POLG IMMT
5 neuropathy 30.1 SLC25A4 POLG MPV17 TYMP TWNK
6 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.1 TYMP TWNK POLG DGUOK
7 mitochondrial encephalomyopathy 30.1 TWNK SUCLG1 SUCLA2 POLG DGUOK
8 kearns-sayre syndrome 30.0 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
9 myopathy 29.9 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
10 mitochondrial neurogastrointestinal encephalomyopathy 29.8 TYMP RRM2B POLG
11 lactic acidosis 29.7 SUCLG1 SLC25A4 RRM2B POLG2 POLG
12 mitochondrial disorders 29.5 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
13 autosomal dominant progressive external ophthalmoplegia 29.4 TWNK SLC25A4 RRM2B POLG2 POLG
14 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 29.2 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
15 mitochondrial myopathy 29.2 TYMP TWNK SUCLA2 SLC25A4 RRM2B POLG2
16 mitochondrial metabolism disease 28.8 TWNK SUCLG1 SUCLA2 SLC25A4 RRM2B POLG2
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 28.0 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
18 3-methylglutaconic aciduria, type iii 27.8 TYMP TWNK SUCLG1 SUCLA2 SLC25A4 POLG2
19 leber hereditary optic neuropathy, modifier of 27.7 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
20 leigh syndrome 27.7 TWNK SUCLG1 SUCLA2 RRM2B POLG2 POLG
21 mitochondrial dna depletion syndrome 4a 27.4 TYMP TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4
22 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 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 recessive 3 11.2
29 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.2
30 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.2
31 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.9
32 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 10.9
33 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 10.9
34 mechanical strabismus 10.5
35 branchiootic syndrome 1 10.4
36 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
37 alternating exotropia 10.4
38 exotropia 10.4
39 myasthenia gravis 10.4
40 retinitis pigmentosa 10.4
41 neuroretinitis 10.4
42 retinitis 10.4
43 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.4
44 hereditary optic neuropathy 10.4
45 ataxia and polyneuropathy, adult-onset 10.3
46 lagophthalmos 10.3
47 peripheral nervous system disease 10.3
48 polg-related disorders 10.2 TWNK POLG
49 myotonic cataract 10.2 TWNK POLG
50 ataxia neuropathy spectrum 10.2 TWNK POLG

Graphical network of the top 20 diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:



Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1

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

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 depressivity 31 HP:0000716
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 facial palsy 31 HP:0010628
6 cataract 31 HP:0000518
7 sensorineural hearing impairment 31 HP:0000407
8 skeletal muscle atrophy 31 HP:0003202
9 premature ovarian insufficiency 31 HP:0008209
10 primary amenorrhea 31 HP:0000786
11 secondary amenorrhea 31 HP:0000869
12 emg: myopathic abnormalities 31 HP:0003458
13 progressive external ophthalmoplegia 31 HP:0000590
14 ragged-red muscle fibers 31 HP:0003200
15 increased serum lactate 31 HP:0002151
16 pes cavus 31 HP:0001761
17 testicular atrophy 31 HP:0000029
18 hyporeflexia 31 HP:0001265
19 gait ataxia 31 HP:0002066
20 impaired distal proprioception 31 HP:0006858
21 rigidity 31 HP:0002063
22 hypergonadotropic hypogonadism 31 HP:0000815
23 limb muscle weakness 31 HP:0003690
24 gastroparesis 31 HP:0002578
25 increased variability in muscle fiber diameter 31 HP:0003557
26 progressive muscle weakness 31 HP:0003323
27 bradykinesia 31 HP:0002067
28 muscle fiber necrosis 31 HP:0003713
29 exercise intolerance 31 HP:0003546
30 resting tremor 31 HP:0002322
31 sensory axonal neuropathy 31 HP:0003390
32 rhabdomyolysis 31 HP:0003201
33 parkinsonism with favorable response to dopaminergic medication 31 HP:0002548
34 impaired distal vibration sensation 31 HP:0006886
35 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
36 subsarcolemmal accumulations of abnormally shaped mitochondria 31 HP:0003548
37 multiple mitochondrial dna deletions 31 HP:0003689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)
cataracts (later onset)

Abdomen Gastrointestinal:
dysphagia
gastroparesis
gastrointestinal pseudoobstruction

Skeletal Feet:
pes cavus

Muscle Soft Tissue:
limb muscle weakness
exercise intolerance
muscle atrophy
facial muscle weakness
ragged red fibers seen on muscle biopsy
more
Head And Neck Ears:
hearing loss, sensorineural

Genitourinary Internal Genitalia Female:
premature ovarian failure (in a subset of patients)

Neurologic Central Nervous System:
ataxia
dysarthria
rigidity
bradykinesia
resting tremor
more
Laboratory Abnormalities:
increased serum lactate
rhabdomyolysis in response to alcohol

Neurologic Peripheral Nervous System:
hyporeflexia
gait ataxia
sensory axonal neuropathy
distal sensory loss of proprioception and vibration sense

Neurologic Behavioral Psychiatric Manifestations:
depression

Genitourinary External Genitalia Male:
testicular atrophy (in a subset of patients)

Endocrine Features:
primary amenorrhea (in a subset of patients)
secondary amenorrhea (in a subset of patients)
premature menopause (in a subset of patients)
hypergonadotropic hypogonadism (in a subset of patients)
decreased secondary sexual characteristics (in a subset of patients)

Clinical features from OMIM®:

157640 (Updated 05-Apr-2021)

UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:


seizures; ataxia; muscle weakness; ophthalmoplegia; gait ataxia; bradykinesia; resting tremor; muscle rigidity; cerebellar ataxia; facial paresis

GenomeRNAi Phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-1 9.23 DGUOK MPV17 SLC25A4 TYMP
2 Strongly decreased CFP-tsO45G cell surface transport GR00360-A-2 9.23 DGUOK MPV17 SLC25A4 TYMP

MGI Mouse Phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.61 DGUOK MPV17 POLG POLG2 RRM2B SLC25A4
2 mortality/aging MP:0010768 9.28 DGUOK MPV17 POLG POLG2 RRM2B SSBP1

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 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
3 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
4 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940

Search NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1

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

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

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

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

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

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

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

(show top 50) (show all 556)
# Title Authors PMID Year
1
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 57 6
15351195 2004
2
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 57 6
12210792 2002
3
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 6 57
11431686 2001
4
Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: clinical, morphologic, and biochemical studies. 57 6
2067633 1991
5
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. 6 57
2725645 1989
6
Ocular myopathy with hypogonadism. 6 57
14467368 1962
7
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 61 6
21880868 2011
8
POLG-Related Disorders 61 6
20301791 2010
9
The unfolding clinical spectrum of POLG mutations. 61 6
19578034 2009
10
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia. 57
32161153 2020
11
Understanding the Epilepsy in POLG Related Disease. 6
28837072 2017
12
Clinical and molecular features of POLG-related mitochondrial disease. 6
23545419 2013
13
Polymerase gamma 1 mutations: clinical correlations. 6
20220442 2010
14
Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations. 57
19752458 2009
15
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 6
19478085 2009
16
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 6
17420318 2007
17
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. 57
15534189 2004
18
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 57
12975295 2003
19
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. 6
11897778 2002
20
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. 57
11756592 2001
21
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. 57
9443501 1998
22
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. 57
8941270 1996
23
Mitochondrial encephalopathy with multiple mitochondrial DNA deletions: a report of two families and two sporadic cases with unusual clinical and neuropathological features. 57
8981296 1996
24
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. 57
8609926 1996
25
An autosomal locus predisposing to deletions of mitochondrial DNA. 57
7719341 1995
26
Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy. 57
2014791 1991
27
Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease. 57
1978558 1990
28
Mitochondrial myopathy: a genetic study of 71 cases. 57
3050098 1988
29
Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy. 57
2841928 1988
30
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies. 57
2830540 1988
31
Familial mitochondrial myopathy with cataract. 57
7365499 1980
32
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients. 61
33717984 2021
33
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response. 61
32868563 2021
34
Strabismus in chronic progressive external ophthalmoplegia. 61
33191655 2021
35
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. 61
33486010 2021
36
Mitophagy: An Emerging Target in Ocular Pathology. 61
33724294 2021
37
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt. 61
33127537 2021
38
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India. 61
33469851 2021
39
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. 61
33396418 2020
40
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia. 61
33121830 2020
41
Extraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations. 61
33057669 2020
42
Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia. 61
32742407 2020
43
Surgical management of ptosis in chronic progressive external ophthalmoplegia. 61
32847396 2020
44
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
45
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
46
Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy. 61
32272361 2020
47
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses. 61
32349064 2020
48
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia. 61
32063883 2020
49
Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations. 61
31755379 2020
50
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. 61
33013660 2020

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

6 (show top 50) (show all 60)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_002693.2(POLG):c.2869G>T (p.Ala957Ser) SNV Pathogenic 13508 rs121918051 GRCh37: 15:89864109-89864109
GRCh38: 15:89320878-89320878
2 POLG NM_002693.2(POLG):c.1532G>A (p.Ser511Asn) SNV Pathogenic 13514 rs121918055 GRCh37: 15:89870196-89870196
GRCh38: 15:89326965-89326965
3 POLG NM_002693.2(POLG):c.2669A>C (p.Asp890Ala) SNV Pathogenic 619422 rs1567186779 GRCh37: 15:89864421-89864421
GRCh38: 15:89321190-89321190
4 TWNK NM_021830.5(TWNK):c.1422G>C (p.Trp474Cys) SNV Pathogenic 694438 rs111033574 GRCh37: 10:102749579-102749579
GRCh38: 10:100989822-100989822
5 POLG NM_002693.2(POLG):c.2864A>G (p.Tyr955Cys) SNV Pathogenic 13495 rs113994099 GRCh37: 15:89864114-89864114
GRCh38: 15:89320883-89320883
6 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Pathogenic 206528 rs144500145 GRCh37: 15:89865011-89865011
GRCh38: 15:89321780-89321780
7 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
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_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
10 POLG NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic 13497 rs121918044 GRCh37: 15:89872286-89872286
GRCh38: 15:89329055-89329055
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_002693.2(POLG):c.1646del (p.Leu549fs) Deletion Likely pathogenic 449949 rs1555453538 GRCh37: 15:89869909-89869909
GRCh38: 15:89326678-89326678
16 POLG NM_002693.2(POLG):c.2678C>T (p.Ser893Phe) SNV Likely pathogenic 694423 rs1596352300 GRCh37: 15:89864412-89864412
GRCh38: 15:89321181-89321181
17 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Likely pathogenic 13513 rs121918054 GRCh37: 15:89866691-89866691
GRCh38: 15:89323460-89323460
18 POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 GRCh37: 15:89872335-89872335
GRCh38: 15:89329104-89329104
19 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Uncertain significance 196354 rs61752784 GRCh37: 15:89873364-89873364
GRCh38: 15:89330133-89330133
20 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Uncertain significance 198151 rs145289229 GRCh37: 15:89871763-89871763
GRCh38: 15:89328532-89328532
21 POLG NM_002693.2(POLG):c.460G>A (p.Ala154Thr) SNV Uncertain significance 206578 rs753858440 GRCh37: 15:89876526-89876526
GRCh38: 15:89333295-89333295
22 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Uncertain significance 451086 rs376306906 GRCh37: 15:89867381-89867381
GRCh38: 15:89324150-89324150
23 POLG NM_002693.2(POLG):c.1570C>G (p.Pro524Ala) SNV Uncertain significance 206631 rs577476988 GRCh37: 15:89870158-89870158
GRCh38: 15:89326927-89326927
24 POLG , FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 GRCh37: 15:89860052-89860052
GRCh38: 15:89316821-89316821
25 POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 GRCh37: 15:89860745-89860745
GRCh38: 15:89317514-89317514
26 POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 GRCh37: 15:89867349-89867349
GRCh38: 15:89324118-89324118
27 POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 GRCh37: 15:89870503-89870503
GRCh38: 15:89327272-89327272
28 POLG NM_002693.2(POLG):c.3482+6C>T SNV Uncertain significance 138760 rs55779802 GRCh37: 15:89861766-89861766
GRCh38: 15:89318535-89318535
29 POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 GRCh37: 15:89861931-89861931
GRCh38: 15:89318700-89318700
30 POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Uncertain significance 239380 rs146404260 GRCh37: 15:89862488-89862488
GRCh38: 15:89319257-89319257
31 POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Uncertain significance 206462 rs200257554 GRCh37: 15:89867387-89867387
GRCh38: 15:89324156-89324156
32 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Uncertain significance 193643 rs147407423 GRCh37: 15:89868793-89868793
GRCh38: 15:89325562-89325562
33 POLG NM_002693.2(POLG):c.3211C>T (p.Arg1071Cys) SNV Uncertain significance 689441 rs762593265 GRCh37: 15:89862224-89862224
GRCh38: 15:89318993-89318993
34 POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 GRCh37: 15:89867118-89867118
GRCh38: 15:89323887-89323887
35 POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 GRCh37: 15:89873438-89873438
GRCh38: 15:89330207-89330207
36 POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 GRCh37: 15:89861829-89861829
GRCh38: 15:89318598-89318598
37 POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 GRCh37: 15:89862259-89862259
GRCh38: 15:89319028-89319028
38 POLG NM_002693.2(POLG):c.2492A>G (p.Tyr831Cys) SNV Uncertain significance 13509 rs41549716 GRCh37: 15:89865073-89865073
GRCh38: 15:89321842-89321842
39 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 GRCh37: 15:89862304-89862304
GRCh38: 15:89319073-89319073
40 POLG NM_002693.2(POLG):c.1615_1623del (p.Phe539_Gln541del) Deletion Uncertain significance 548594 rs754586219 GRCh37: 15:89869932-89869940
GRCh38: 15:89326701-89326709
41 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Uncertain significance 206516 rs138457939 GRCh37: 15:89866693-89866693
GRCh38: 15:89323462-89323462
42 POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 GRCh37: 15:89867339-89867339
GRCh38: 15:89324108-89324108
43 POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 GRCh37: 15:89868748-89868748
GRCh38: 15:89325517-89325517
44 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Uncertain significance 458687 rs775576189 GRCh37: 15:89870555-89870555
GRCh38: 15:89327324-89327324
45 POLG , FANCI NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Uncertain significance 458718 rs148786642 GRCh37: 15:89860035-89860035
GRCh38: 15:89316804-89316804
46 POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 GRCh37: 15:89861937-89861937
GRCh38: 15:89318706-89318706
47 POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 GRCh37: 15:89865205-89865205
GRCh38: 15:89321974-89321974
48 POLG NM_002693.2(POLG):c.2466C>G (p.Pro822=) SNV Uncertain significance 625997 rs1235161601 GRCh37: 15:89865207-89865207
GRCh38: 15:89321976-89321976
49 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Uncertain significance 195182 rs765472726 GRCh37: 15:89876954-89876954
GRCh38: 15:89333723-89333723
50 POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 GRCh37: 15:89862487-89862487
GRCh38: 15:89319256-89319256

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1:

72
# Symbol AA change Variation ID SNP ID
1 POLG p.Tyr955Cys VAR_012156 rs113994099
2 POLG p.Gly923Asp VAR_023678
3 POLG p.Arg943His VAR_023680
4 POLG p.Arg953Cys VAR_023681 rs11546842
5 POLG p.Ala957Ser VAR_023682 rs121918051
6 POLG p.Ser1176Leu VAR_023690 rs776031396
7 POLG p.Ser511Asn VAR_058878 rs121918055
8 POLG p.Asp1186His VAR_065119

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 1.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Pathways related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.94 TWNK SSBP1 POLG2
2 10.79 SUCLG1 SUCLA2
3 10.43 SUCLG1 SUCLA2
4 10.23 RRM2B POLG

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

Cellular components related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 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 mitochondrion GO:0005739 9.36 TWNK SUCLG1 SUCLA2 SSBP1 SLC25A4 RRM2B
3 gamma DNA polymerase complex GO:0005760 9.26 POLG2 POLG
4 mitochondrial nucleoid GO:0042645 9.26 TWNK SSBP1 POLG2 POLG

Biological processes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 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 1 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
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32 ICD10
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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