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PEO
MCID: CHR095
MIFTS: 49

Chronic Progressive External Ophthalmoplegia (PEO)

Categories: Eye diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Chronic Progressive External Ophthalmoplegia

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MalaCards integrated aliases for Chronic Progressive External Ophthalmoplegia:

Name: Chronic Progressive External Ophthalmoplegia 12 20 43 6 15 71
Progressive External Ophthalmoplegia 12 74 20 43 58 36 29 54 6 17 32
Cpeo 20 43
Ophthalmoplegia, External, Progressive, Chronic 39
Ophthalmoplegia, Chronic Progressive External 44
Peo 43

Classifications:

MalaCards categories:
Global: Rare diseases Metabolic diseases
Anatomical: Eye diseases Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:12558
KEGG 36 H01118
ICD9CM 34 378.72
MeSH 44 D017246
SNOMED-CT 67 194126004
ICD10 32 H49.4
Orphanet 58 ORPHA520820
UMLS 71 C0162674
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Summaries for Chronic Progressive External Ophthalmoplegia

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MedlinePlus Genetics : 43 Progressive external ophthalmoplegia is a condition characterized by weakness of the eye muscles. The condition typically appears in adults between ages 18 and 40 and slowly worsens over time. The first sign of progressive external ophthalmoplegia is typically drooping eyelids (ptosis), which can affect one or both eyelids. As ptosis worsens, affected individuals may use the forehead muscles to try to lift the eyelids, or they may lift up their chin in order to see. Another characteristic feature of progressive external ophthalmoplegia is weakness or paralysis of the muscles that move the eye (ophthalmoplegia). Affected individuals have to turn their head to see in different directions, especially as the ophthalmoplegia worsens. People with progressive external ophthalmoplegia may also have general weakness of the muscles used for movement (myopathy), particularly those in the neck, arms, or legs. The weakness may be especially noticeable during exercise (exercise intolerance). Muscle weakness may also cause difficulty swallowing (dysphagia).When the muscle cells of affected individuals are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain an excess of cell structures called mitochondria and are known as ragged-red fibers.Although muscle weakness is the primary symptom of progressive external ophthalmoplegia, this condition can be accompanied by other signs and symptoms. In these instances, the condition is referred to as progressive external ophthalmoplegia plus (PEO+). Additional signs and symptoms can include hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss), weakness and loss of sensation in the limbs due to nerve damage (neuropathy), impaired muscle coordination (ataxia), a pattern of movement abnormalities known as parkinsonism, and depression.Progressive external ophthalmoplegia is part of a spectrum of disorders with overlapping signs and symptoms. Similar disorders include ataxia neuropathy spectrum and Kearns-Sayre syndrome. Like progressive external ophthalmoplegia, the other conditions in this spectrum can involve weakness of the eye muscles. However, these conditions have many additional features not shared by most people with progressive external ophthalmoplegia.

MalaCards based summary : Chronic Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4, and has symptoms including ophthalmoplegia An important gene associated with Chronic Progressive External Ophthalmoplegia is MT-TN (Mitochondrially Encoded TRNA-Asn (AAU/C)), and among its related pathways/superpathways are tRNA Aminoacylation and Nucleotide Metabolism. The drugs Nicotinamide and Folic acid have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and brain, and related phenotypes are adipose tissue and cellular

GARD : 20 Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in early adulthood and most commonly include weakness or paralysis of the muscles that move the eye (ophthalmoplegia) and drooping of the eyelids (ptosis). Some affected individuals also have general weakness of the skeletal muscles (myopathy), which may be especially noticeable during exercise. Muscle weakness may also cause difficulty swallowing (dysphagia). CPEO can be caused by mutations in any of several genes, which may be located in mitochondrial DNA or nuclear DNA. It has different inheritance patterns depending on the gene involved in the affected individual. CPEO can occur as part of other underlying conditions, such as ataxia neuropathy spectrum and Kearns-Sayre syndrome. These conditions may not only involve CPEO, but various additional features that are not shared by most individuals with CPEO.

KEGG : 36 Progressive external ophthalmoplegia (PEO) is a a progressive weakness of the external muscles of the eye resulting in blepharoptosis and ophthalmoparesis. Often other muscles are involved resulting in dysphagia and a variable neck and limb muscle weakness. Most sporadic PEO cases have an acquired genetic disease with a heteroplasmic large deletion of mitochondrial DNA (mtDNA) in muscle. In familial PEO, several modes of inheritance occur. Patients may have a nuclear gene defect that predisposes to the accumulation of mtDNA deletions. Recently, mutations in such nuclear genes have been discovered. Some mutations are dominant (PEOA) and others recessive.

Wikipedia : 74 Chronic progressive external ophthalmoplegia (CPEO), is a type of eye disorder characterized by slowly... more...

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Related Diseases for Chronic Progressive External Ophthalmoplegia

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Diseases in the Total Internal Ophthalmoplegia family:

Chronic Progressive External Ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia

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

(show top 50) (show all 224)
# Related Disease Score Top Affiliating Genes
1 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 33.3 SOD2 SLC25A4
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 33.0 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 33.0 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
4 kearns-sayre syndrome 32.9 TYMP TWNK SPG7 SLC25A4 RRM2B POLG2
5 mitochondrial dna-related progressive external ophthalmoplegia 32.8 MT-TN MT-TL2
6 mitochondrial dna depletion syndrome 1 32.7 TYMP POLG
7 mitochondrial dna depletion syndrome 4b 32.4 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
8 mitochondrial dna depletion syndrome 7 32.1 TWNK SLC25A4 RRM2B POLG2 POLG DGUOK
9 ptosis 31.8 TYMP TWNK RRM2B POLG MT-TN CHAT
10 dysphagia 31.4 TWNK PIK3C2A
11 polg-related disorders 31.3 TWNK POLG
12 mitochondrial metabolism disease 31.2 TWNK SLC25A4 RRM2B POLG2 POLG DGUOK
13 optic nerve disease 31.2 TWNK SPG7 SOD2 POLG
14 mitochondrial myopathy 31.2 TYMP TWNK SPG7 SLC25A4 SDHB RRM2B
15 mitochondrial encephalomyopathy 31.1 TYMP TWNK SOD2 POLG MT-TL2 DGUOK
16 neuropathy 31.1 TYMP TWNK SPG7 SOD2 SLC25A4 POLG
17 myopathy 31.1 TYMP TWNK SOD2 SLC25A4 SDHB RRM2B
18 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 30.9 MT-TN MT-TL2 MT-TI MT-TA
19 peripheral nervous system disease 30.9 TWNK SPG7 POLG CHAT
20 lactic acidosis 30.9 SLC25A4 RRM2B POLG2 POLG MT-TL2 MT-TA
21 ataxia neuropathy spectrum 30.9 TWNK POLG
22 axonal neuropathy 30.9 TWNK SLC25A4 POLG
23 myoglobinuria 30.8 SDHB PIK3C2A COX5A
24 mitochondrial dna depletion syndrome 4a 30.8 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
25 mitochondrial disorders 30.7 TYMP TWNK SPG7 SOD2 SLC25A4 SDHB
26 3-methylglutaconic aciduria, type iii 30.7 TYMP TWNK SPG7 SLC25A4 POLG2 POLG
27 mitochondrial neurogastrointestinal encephalomyopathy 30.7 TYMP RRM2B POLG
28 cerebellar disease 30.6 TWNK SPG7 POLG
29 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 30.6 TYMP TWNK SPG7 SLC25A4 RRM2B POLG2
30 autosomal dominant progressive external ophthalmoplegia 30.6 TWNK SLC25A4 RRM2B POLG2 POLG
31 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 30.6 TYMP TWNK POLG MT-TN MT-TL2 MT-TI
32 pearson marrow-pancreas syndrome 30.5 TWNK RRM2B POLG DGUOK
33 mitochondrial dna depletion syndrome 30.5 TYMP TWNK SLC25A4 RRM2B POLG2 POLG
34 muscular disease 30.4 POLG PIK3C2A MYF5
35 leigh syndrome 30.4 TWNK SDHB RRM2B POLG2 POLG MT-TI
36 early myoclonic encephalopathy 30.3 TWNK SPG7 SDHB POLG COX5A
37 leber hereditary optic neuropathy, modifier of 30.0 TYMP TWNK SPG7 SOD2 SLC25A4 RRM2B
38 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.7
39 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.7
40 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.7
41 mitochondrial dna depletion syndrome 11 11.7
42 horizontal gaze palsy with progressive scoliosis 11.4
43 ocular muscular dystrophy 11.4
44 strabismus 11.3
45 combined oxidative phosphorylation deficiency 33 11.3
46 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.2
47 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.2
48 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.2
49 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.2
50 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.2

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



Diseases related to Chronic Progressive External Ophthalmoplegia
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Symptoms & Phenotypes for Chronic Progressive External Ophthalmoplegia

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UMLS symptoms related to Chronic Progressive External Ophthalmoplegia:


ophthalmoplegia

MGI Mouse Phenotypes related to Chronic Progressive External Ophthalmoplegia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.7 DGUOK HELLS MYF5 PIK3C2A POLG RRM2B
2 cellular MP:0005384 9.7 DGUOK HELLS MYF5 PIK3C2A POLG POLG2
3 renal/urinary system MP:0005367 9.17 DGUOK HELLS PIK3C2A POLG2 RRM2B SDHB
Sources

Drugs & Therapeutics for Chronic Progressive External Ophthalmoplegia

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Drugs for Chronic Progressive External Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational 98-92-0 936
2
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
3
Niacin Approved, Investigational, Nutraceutical 59-67-6 938
4 Nutrients
5 Micronutrients
6 Vitamin B Complex
7 Trace Elements
8 Vitamins
9 Vitamin B3
10 Lipid Regulating Agents
11 Nicotinic Acids
12 Folate
13 Vitamin B9
14 Antimetabolites
15 Hypolipidemic Agents
16 Vasodilator Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase IIb Open-label, Multi-centre, Extension Study to Explore the Long-term Safety and Efficacy of KH176 in Subjects With a Genetically Confirmed Mitochondrial DNA tRNALeu(UUR) m.3243A>G Mutation Who Have Completed the KHENERGYZE Study KH176-202. Not yet recruiting NCT04604548 Phase 2 Oral administration of 100 mg KH176 twice daily
2 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
3 The Role of Nicotinamide Riboside in Mitochondrial Biogenesis Recruiting NCT03432871
4 A Randomized Cross-Over Clinical Trial Comparing Two Non-Surgical Treatments for Severe Blepharoptosis Not yet recruiting NCT04678115

Search NIH Clinical Center for Chronic Progressive External Ophthalmoplegia

Cochrane evidence based reviews: ophthalmoplegia, chronic progressive external

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Genetic Tests for Chronic Progressive External Ophthalmoplegia

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Genetic tests related to Chronic Progressive External Ophthalmoplegia:

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia 29
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Anatomical Context for Chronic Progressive External Ophthalmoplegia

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MalaCards organs/tissues related to Chronic Progressive External Ophthalmoplegia:

40
Eye, Skeletal Muscle, Brain, Retina, Pancreas, Endothelial, Pituitary
Sources

Publications for Chronic Progressive External Ophthalmoplegia

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Articles related to Chronic Progressive External Ophthalmoplegia:

(show top 50) (show all 1068)
# Title Authors PMID Year
1
Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations. 61 54
20513108 2010
2
mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. 61 54
20185557 2010
3
Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes. 61 54
20400524 2010
4
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 61 54
20479361 2010
5
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. 61 54
19705478 2010
6
Disruption of mitochondrial DNA replication in Drosophila increases mitochondrial fast axonal transport in vivo. 61 54
19924234 2009
7
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 61 54
19251978 2009
8
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. 61 54
18971204 2009
9
Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations. 54 61
19566497 2009
10
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. 61 54
18575922 2008
11
Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism. 54 61
18502641 2008
12
The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine. 61 54
17725985 2007
13
Levodopa response in Parkinsonism with multiple mitochondrial DNA deletions. 61 54
17357142 2007
14
Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism. 61 54
17420318 2007
15
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. 61 54
16595552 2006
16
Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. 54 61
16940310 2006
17
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. 54 61
16685652 2006
18
Mice with neuron-specific accumulation of mitochondrial DNA mutations show mood disorder-like phenotypes. 61 54
16619054 2006
19
Early-onset familial parkinsonism due to POLG mutations. 54 61
16634032 2006
20
Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. 61 54
16401742 2006
21
Mitochondrial and nuclear DNA defects in Saccharomyces cerevisiae with mutations in DNA polymerase gamma associated with progressive external ophthalmoplegia. 61 54
16368709 2006
22
Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility. 54 61
16303948 2005
23
The adenine nucleotide translocase type 1 (ANT1): a new factor in mitochondrial disease. 54 61
16203679 2005
24
Consequences of mutations in human DNA polymerase gamma. 61 54
15913923 2005
25
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. 54 61
15792871 2005
26
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. 61 54
15534189 2004
27
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 54 61
15477547 2004
28
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 61 54
15351195 2004
29
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. 54 61
15258572 2004
30
POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. 61 54
14745080 2004
31
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 61 54
14694057 2003
32
Remarkable infidelity of polymerase gammaA associated with mutations in POLG1 exonuclease domain. 54 61
14557557 2003
33
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 54 61
12975295 2003
34
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. 61 54
12872260 2003
35
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 61 54
12825077 2003
36
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). 54 61
12707443 2003
37
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 54 61
12565911 2003
38
Error catastrophe in mutant mitochondria. 54 61
14603013 2002
39
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 61 54
12210792 2002
40
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis. 61 54
11897778 2002
41
Antioxidant agents have a different expression pattern in muscle fibers of patients with mitochondrial diseases. 54 61
11907800 2002
42
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA. 61 54
11735376 2001
43
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. 54 61
11756613 2001
44
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 54 61
11431686 2001
45
Flux control of cytochrome c oxidase in human skeletal muscle. 61 54
10869362 2000
46
[Molecular studies in Cuban patients with progressive external ophthalmoplegia]. 61 54
10904941 2000
47
Superoxide dismutases of muscle in mitochondrial encephalomyopathies. 61 54
7565923 1995
48
"All-or-none" cytochrome c oxidase positivity in mitochondria in chronic progressive external ophthalmoplegia: an ultrastructural--cytochemical study. 54 61
8381519 1993
49
Quantitative evaluation of electron transport system proteins in mitochondrial encephalomyopathy. 54 61
8386896 1993
50
Enzyme activity analyses along ragged-red and normal single muscle fibres. 54 61
1330995 1992
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Variations for Chronic Progressive External Ophthalmoplegia

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ClinVar genetic disease variations for Chronic Progressive External Ophthalmoplegia:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MT-TN NC_012920.1:m.5667G>A SNV Pathogenic 560167 rs1569484022 MT:5667-5667 MT:5667-5667
2 MYF5 NM_005593.3(MYF5):c.23_32del (p.Gln8fs) Deletion Pathogenic 523663 rs1555216163 12:81110863-81110872 12:80717084-80717093
3 MYF5 NM_005593.3(MYF5):c.283C>T (p.Arg95Cys) SNV Pathogenic 523662 rs1565864693 12:81111125-81111125 12:80717346-80717346
4 CHAT NM_020549.4(CHAT):c.1061C>T (p.Thr354Met) SNV Pathogenic 523528 rs769234940 10:50835781-50835781 10:49627735-49627735
5 CHAT NM_020549.4(CHAT):c.2081C>G (p.Ser694Cys) SNV Pathogenic 523529 rs201439531 10:50872926-50872926 10:49664880-49664880
6 TWNK NM_021830.5(TWNK):c.1121G>A (p.Arg374Gln) SNV Likely pathogenic 426106 rs1554887097 10:102749088-102749088 10:100989331-100989331
7 MT-TN NC_012920.1:m.5702A>G SNV Likely pathogenic 812543 rs1603220093 MT:5702-5702 MT:5702-5702
8 MT-TS1 NC_012920.1:m.7486G>A SNV Uncertain significance 374215 rs1556423295 MT:7486-7486 MT:7486-7486
9 RRM2B NM_001172477.1(RRM2B):c.822T>A (p.Phe274Leu) SNV Uncertain significance 30434 rs515726194 8:103231120-103231120 8:102218892-102218892
10 RRM2B NM_001172477.1(RRM2B):c.1033G>A (p.Gly345Ser) SNV Uncertain significance 30435 rs387906891 8:103225090-103225090 8:102212862-102212862
11 RRM2B NM_001172477.1(RRM2B):c.313C>T (p.Pro105Ser) SNV Uncertain significance 30436 rs387906892 8:103244484-103244484 8:102232256-102232256
12 MT-CO1 NC_012920.1:m.7082C>A SNV Likely benign 560166 rs1569484134 MT:7082-7082 MT:7082-7082
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Expression for Chronic Progressive External Ophthalmoplegia

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Search GEO for disease gene expression data for Chronic Progressive External Ophthalmoplegia.
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Pathways for Chronic Progressive External Ophthalmoplegia

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Pathways related to Chronic Progressive External Ophthalmoplegia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
tRNA Aminoacylation 65
Show member pathways
 11.17 MT-TN MT-TL2 MT-TI MT-TA
2
Nucleotide Metabolism 1
10.23 RRM2B POLG
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GO Terms for Chronic Progressive External Ophthalmoplegia

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 TWNK SPG7 SOD2 SLC25A4 SDHB RRM2B
2 mitochondrial matrix GO:0005759 9.56 TWNK SOD2 POLG2 DGUOK
3 gamma DNA polymerase complex GO:0005760 9.16 POLG2 POLG
4 mitochondrial nucleoid GO:0042645 8.92 TWNK SOD2 POLG2 POLG

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion organization GO:0007005 9.43 TWNK SPG7 POLG2
2 DNA-dependent DNA replication GO:0006261 9.37 POLG2 POLG
3 respiratory electron transport chain GO:0022904 9.32 SDHB POLG2
4 DNA replication GO:0006260 9.26 TWNK RRM2B POLG2 POLG
5 mitochondrial genome maintenance GO:0000002 9.16 TYMP SLC25A4
6 mitochondrial DNA replication GO:0006264 8.92 TWNK RRM2B POLG2 POLG

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

# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 8.62 POLG2 POLG
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Sources for Chronic Progressive External Ophthalmoplegia

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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