PEOB1
MCID: PRG131
MIFTS: 47

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 (PEOB1)

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 Recessive 1:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 57 29 6
Autosomal Recessive Progressive External Ophthalmoplegia 20 58 36 29
Peob1 57 12 72
Progressive External Ophthalmoplegia, Autosomal Recessive 1 57 20
Chronic Progressive External Ophthalmoplegia 72 70
Arpeo 20 58
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Recessive, Type 1 39
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive, 1 72
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 70
Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia 20
Progressive External Ophthalmoplegia with Cerebellar Ataxia Infantile 20
Autosomal Recessive Progressive External Ophthalmoplegia 1 12
Progressive External Ophthalmoplegia, Autosomal Recessive 13
Progressive External Ophthalmoplegia Autosomal Recessive 72
Ocular Myopathy of Von Graefe-Fuchs 72
Mitochondrial Ocular Myopathy 72
Kearns-Sayre Syndrome 70
Graefe Disease 72
Cpeo 72

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive progressive external ophthalmoplegia
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in late teens to twenties
peo is not always present


HPO:

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


Classifications:

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


Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM® : 57 Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) 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. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). (258450) (Updated 05-Apr-2021)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1, also known as autosomal recessive progressive external ophthalmoplegia, is related to mitochondrial myopathy and mitochondrial disorders, and has symptoms including seizures, muscle weakness and ophthalmoplegia. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 is POLG (DNA Polymerase Gamma, Catalytic Subunit). Affiliated tissues include eye, skeletal muscle and retina, and related phenotypes are dysphagia and facial palsy

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

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 254886 Definition A rare genetic, neuro-ophthalmological disease characterized by progressive weakness of the external eye muscles, resulting in bilateral ptosis and diffuse, symmetric ophthalmoparesis. Additional signs may include generalized skeletal muscle weakness, muscle atrophy, sensory axonal neuropathy, ataxia, cardiomyopathy, and psychiatric symptoms. It is usually more severe than autosomal dominant form.

KEGG : 36 Autosomal-inherited progressive external ophthalmoplegia (PEO) is an adult-onset disease characterized by the accumulation of multiple mitochondrial DNA (mtDNA) deletions in post-mitotic tissues. Mutations in six different genes have been described to cause the autosomal dominant PEO (PEOA). Conversely, the autosomal recessive PEO (PEOB) has only been associated with mutations in POLG1. Recently, mutations in RNASEH1, TK2, and DGUOK has been identified.

UniProtKB/Swiss-Prot : 72 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive, 1: A severe form of progressive external ophthalmoplegia, a disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. It is clinically more heterogeneous than the autosomal dominant forms.

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 Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 30.7 TK2 POLG
2 mitochondrial disorders 30.6 TK2 POLG
3 autosomal dominant progressive external ophthalmoplegia 29.6 POLG FANCI
4 mitochondrial dna depletion syndrome 4a 29.6 POLG FANCI
5 mitochondrial dna depletion syndrome 29.4 TK2 POLG FANCI
6 chronic progressive external ophthalmoplegia 12.0
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.8
8 kearns-sayre syndrome 11.8
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.8
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.7
12 ocular muscular dystrophy 11.4
13 mitochondrial dna-related progressive external ophthalmoplegia 11.4
14 strabismus 11.3
15 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.3
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.2
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.2
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.2
19 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.2
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 10.9
21 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 10.9
22 ptosis 10.9
23 myopathy 10.9
24 mitochondrial metabolism disease 10.5
25 mitochondrial encephalomyopathy 10.5
26 mechanical strabismus 10.5
27 dysphagia 10.5
28 branchiootic syndrome 1 10.4
29 neuropathy 10.4
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
31 alternating exotropia 10.4
32 exotropia 10.4
33 optic nerve disease 10.4
34 lactic acidosis 10.4
35 myasthenia gravis 10.4
36 retinitis pigmentosa 10.4
37 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.4
38 neuroretinitis 10.4
39 retinitis 10.4
40 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.4
41 hereditary optic neuropathy 10.4
42 3-methylglutaconic aciduria, type iii 10.3
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 Recessive 1:



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

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

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

58 31 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
2 facial palsy 58 31 frequent (33%) Frequent (79-30%) HP:0010628
3 myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003198
4 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
5 ragged-red muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003200
6 paresthesia 58 31 frequent (33%) Frequent (79-30%) HP:0003401
7 mitochondrial myopathy 58 31 frequent (33%) Frequent (79-30%) HP:0003737
8 external ophthalmoplegia 58 31 frequent (33%) Frequent (79-30%) HP:0000544
9 cardiomyopathy 58 31 occasional (7.5%) Frequent (79-30%) HP:0001638
10 sensory axonal neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0003390
11 cytochrome c oxidase-negative muscle fibers 58 31 frequent (33%) Frequent (79-30%) HP:0003688
12 ptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000508
13 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
14 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
15 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
16 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
17 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
18 muscle stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003552
19 hyporeflexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001265
20 weak voice 58 31 occasional (7.5%) Occasional (29-5%) HP:0001621
21 cerebellar atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0001272
22 cerebral atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0002059
23 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
24 proximal muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0003701
25 optic neuritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100653
26 distal sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0002936
27 cogwheel rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002396
28 muscle fiber atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0100295
29 abnormal retinal morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0000479
30 bradykinesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002067
31 hand muscle weakness 58 31 occasional (7.5%) Occasional (29-5%) HP:0030237
32 exercise intolerance 58 31 occasional (7.5%) Occasional (29-5%) HP:0003546
33 shuffling gait 58 31 occasional (7.5%) Occasional (29-5%) HP:0002362
34 dyschromatopsia 58 31 occasional (7.5%) Occasional (29-5%) HP:0007641
35 abnormality of the cerebrospinal fluid 58 31 occasional (7.5%) Occasional (29-5%) HP:0002921
36 action tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0002345
37 parkinsonism with favorable response to dopaminergic medication 58 31 occasional (7.5%) Occasional (29-5%) HP:0002548
38 stooped posture 58 31 occasional (7.5%) Occasional (29-5%) HP:0025403
39 cognitive impairment 58 31 very rare (1%) Very rare (<4-1%) HP:0100543
40 elevated serum creatine kinase 58 31 very rare (1%) Very rare (<4-1%) HP:0003236
41 scapular winging 58 31 very rare (1%) Very rare (<4-1%) HP:0003691
42 emotional lability 31 HP:0000712
43 dysarthria 31 HP:0001260
44 dysphonia 31 HP:0001618
45 emg: myopathic abnormalities 31 HP:0003458
46 respiratory insufficiency due to muscle weakness 31 HP:0002747
47 progressive external ophthalmoplegia 31 HP:0000590
48 mitral valve prolapse 31 HP:0001634
49 mitral regurgitation 31 HP:0001653
50 areflexia 31 HP:0001284

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)
optic atrophy (1 patient)
dyschromatopsia (1 patient)
poor vision (1 patient)

Abdomen Gastrointestinal:
dysphagia

Cardiovascular Heart:
mitral valve prolapse
mitral insufficiency
cardiomyopathy (in some patients)

Skeletal Feet:
pes cavus
'clawed' toes

Laboratory Abnormalities:
increased csf protein
increased creatine kinase, mild

Muscle Soft Tissue:
dysarthria
dysphonia
exercise intolerance
ragged red fibers seen on muscle biopsy
muscle weakness, proximal
more
Respiratory:
respiratory insufficiency due to muscle weakness

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
sensory ataxic neuropathy
sensory axonal neuropathy
decreased sensory nerve action potentials
more
Neurologic Central Nervous System:
gait ataxia
positive romberg sign
rigidity
limb ataxia
parkinsonism
more
Neurologic Behavioral Psychiatric Manifestations:
depression
emotional instability

Clinical features from OMIM®:

258450 (Updated 05-Apr-2021)

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


seizures; muscle weakness; ophthalmoplegia; cerebellar ataxia

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased ionizing radiation sensitivity GR00232-A-1 8.32 TK2

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 Recessive 1

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

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

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

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

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

40
Eye, Skeletal Muscle, Retina, Liver, Occipital Lobe

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

(show top 50) (show all 55)
# Title Authors PMID Year
1
POLG1 variations presenting as multiple sclerosis. 57 6
20837861 2010
2
Early-onset familial parkinsonism due to POLG mutations. 57 6
16634032 2006
3
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 57 6
12975295 2003
4
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 57 6
12210792 2002
5
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. 57 6
11431686 2001
6
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. 61 6
21937588 2012
7
Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy. 61 6
12825077 2003
8
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. 61 6
12565911 2003
9
PRICKLE2 Mutations Might Not Be Involved in Epilepsy. 6
26942291 2016
10
Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine. 6
26942292 2016
11
Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features. 6
23448099 2013
12
POLG mutation presenting with late-onset jerky torticollis. 6
23212759 2013
13
Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy. 6
22342071 2012
14
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 6
21993618 2012
15
MELAS/SANDO overlap syndrome associated with POLG1 mutations. 6
21647632 2012
16
Sensory neuronopathy in patients harbouring recessive polymerase γ mutations. 6
22189570 2012
17
Bowel obstruction in patients with Alpers-Huttenlocher syndrome. 6
22006280 2011
18
Parieto-occipital lobe epilepsy caused by a POLG1 compound heterozygous A467T/W748S genotype. 6
21515089 2011
19
Novel POLG splice site mutation and optic atrophy. 57
21670405 2011
20
Mutations in prickle orthologs cause seizures in flies, mice, and humans. 6
21276947 2011
21
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 6
20818383 2010
22
[Mitochondrial DNA depletion and POLG mutations in a patient with sensory ataxia, dysarthria and ophthalmoplegia]. 6
20576279 2010
23
Isolated distal myopathy of the upper limbs associated with mitochondrial DNA depletion and polymerase gamma mutations. 57
20837862 2010
24
Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. 6
19307547 2009
25
Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children. 6
19251978 2009
26
Melas associated with mutations in the polg1 gene. 57
18362288 2008
27
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders. 6
17426723 2007
28
MELAS associated with mutations in the POLG1 gene. 57
17502560 2007
29
POLG mutations in Alpers syndrome. 6
16177225 2005
30
POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion. 6
16130100 2005
31
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 6
16024923 2005
32
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 6
15917273 2005
33
POLG mutations and Alpers syndrome. 6
15929042 2005
34
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. 6
15689359 2005
35
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 6
15824347 2005
36
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. 6
15477547 2004
37
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 57
15351195 2004
38
Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene. 6
15349879 2004
39
POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion. 6
15122711 2004
40
Patient homozygous for a recessive POLG mutation presents with features of MERRF. 6
14694057 2003
41
Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle. 6
12872260 2003
42
Multiple mtDNA deletions with features of MNGIE. 6
12297582 2002
43
Adult-onset autosomal recessive ataxia with thalamic lesions in a Finnish family. 6
11571332 2001
44
Multiple mitochondrial DNA deletions associated with autosomal recessive ophthalmoplegia and severe cardiomyopathy. 57
8628476 1996
45
Inherited idiopathic dilated cardiomyopathy with multiple deletions of mitochondrial DNA. 57
1360038 1992
46
An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region. 57
2725645 1989
47
Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome. 6
632821 1978
48
Experimental denervation of ocular muscles. A critique of the concept of "ocular myopathy". 57
5797350 1969
49
Ophthalmoplegia plus. The neurodegenerative disorders associated with progressive external ophthalmoplegia. 57
5652994 1968
50
Deep sequencing of mitochondrial DNA and characterization of a novel POLG mutation in a patient with arPEO. 61
32042919 2020

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

6 (show top 50) (show all 65)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_002693.2(POLG):c.8G>C (p.Arg3Pro) SNV Pathogenic 13498 rs121918045 GRCh37: 15:89876978-89876978
GRCh38: 15:89333747-89333747
2 TK2 NM_004614.5(TK2):c.547C>T (p.Arg183Trp) SNV Pathogenic 38992 rs137886900 GRCh37: 16:66551110-66551110
GRCh38: 16:66517207-66517207
3 TK2 NM_004614.5(TK2):c.562A>G (p.Thr188Ala) SNV Pathogenic 38993 rs281865495 GRCh37: 16:66551095-66551095
GRCh38: 16:66517192-66517192
4 TK2 NM_004614.5(TK2):c.416C>T (p.Ala139Val) SNV Pathogenic 38990 rs281865494 GRCh37: 16:66562930-66562930
GRCh38: 16:66529027-66529027
5 TK2 NM_004614.5(TK2):c.173A>G (p.Asn58Ser) SNV Pathogenic 38978 rs138439950 GRCh37: 16:66575840-66575840
GRCh38: 16:66541937-66541937
6 POLG NM_002693.2(POLG):c.2557C>T (p.Arg853Trp) SNV Pathogenic 13512 rs121918053 GRCh37: 15:89865008-89865008
GRCh38: 15:89321777-89321777
7 POLG NM_002693.2(POLG):c.2419C>T (p.Arg807Cys) SNV Pathogenic 279982 rs769827124 GRCh37: 15:89865980-89865980
GRCh38: 15:89322749-89322749
8 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Pathogenic 13513 rs121918054 GRCh37: 15:89866691-89866691
GRCh38: 15:89323460-89323460
9 POLG NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) SNV Pathogenic 13503 rs113994094 GRCh37: 15:89873415-89873415
GRCh38: 15:89330184-89330184
10 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
11 POLG NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) SNV Pathogenic 13505 rs113994096 GRCh37: 15:89868870-89868870
GRCh38: 15:89325639-89325639
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_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV Pathogenic 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
14 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
15 POLG NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic 13497 rs121918044 GRCh37: 15:89872286-89872286
GRCh38: 15:89329055-89329055
16 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
17 POLG NM_002693.2(POLG):c.2554C>T (p.Arg852Cys) SNV Pathogenic 206528 rs144500145 GRCh37: 15:89865011-89865011
GRCh38: 15:89321780-89321780
18 POLG NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) SNV Pathogenic 13497 rs121918044 GRCh37: 15:89872286-89872286
GRCh38: 15:89329055-89329055
19 POLG NM_002693.2(POLG):c.915C>G (p.Ser305Arg) SNV Pathogenic 206588 rs769410130 GRCh37: 15:89872282-89872282
GRCh38: 15:89329051-89329051
20 POLG NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) SNV Likely pathogenic 206596 rs145843073 GRCh37: 15:89870429-89870429
GRCh38: 15:89327198-89327198
21 POLG NM_002693.3(POLG):c.67_88del (p.Gly23fs) Deletion Likely pathogenic 984421 GRCh37: 15:89876898-89876919
GRCh38: 15:89333667-89333688
22 POLG NM_002693.3(POLG):c.3286C>T SNV Likely pathogenic 206556 rs201732356 GRCh37: 15:89861968-89861968
GRCh38: 15:89318737-89318737
23 POLG NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) SNV Likely pathogenic 13513 rs121918054 GRCh37: 15:89866691-89866691
GRCh38: 15:89323460-89323460
24 POLG NM_002693.2(POLG):c.32G>A (p.Gly11Asp) SNV Likely pathogenic 195182 rs765472726 GRCh37: 15:89876954-89876954
GRCh38: 15:89333723-89333723
25 POLG NM_002693.2(POLG):c.3131T>C (p.Val1044Ala) SNV Uncertain significance 129994 rs150233690 GRCh37: 15:89862304-89862304
GRCh38: 15:89319073-89319073
26 POLG NM_002693.2(POLG):c.2085T>G (p.Asp695Glu) SNV Uncertain significance 206509 rs776848222 GRCh37: 15:89867118-89867118
GRCh38: 15:89323887-89323887
27 POLG NM_002693.2(POLG):c.729C>A (p.Asp243Glu) SNV Uncertain significance 452496 rs757917194 GRCh37: 15:89873438-89873438
GRCh38: 15:89330207-89330207
28 POLG NM_002693.2(POLG):c.3425G>A (p.Arg1142Gln) SNV Uncertain significance 195591 rs536732038 GRCh37: 15:89861829-89861829
GRCh38: 15:89318598-89318598
29 POLG NM_002693.2(POLG):c.3176A>G (p.Asn1059Ser) SNV Uncertain significance 195487 rs201192905 GRCh37: 15:89862259-89862259
GRCh38: 15:89319028-89319028
30 POLG NM_002693.2(POLG):c.862C>T (p.Arg288Cys) SNV Uncertain significance 206586 rs564582352 GRCh37: 15:89872335-89872335
GRCh38: 15:89329104-89329104
31 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV Uncertain significance 196354 rs61752784 GRCh37: 15:89873364-89873364
GRCh38: 15:89330133-89330133
32 POLG NM_002693.2(POLG):c.1174C>G (p.Leu392Val) SNV Uncertain significance 198151 rs145289229 GRCh37: 15:89871763-89871763
GRCh38: 15:89328532-89328532
33 POLG NM_002693.2(POLG):c.2027C>T (p.Ala676Val) SNV Uncertain significance 451086 rs376306906 GRCh37: 15:89867381-89867381
GRCh38: 15:89324150-89324150
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 , FANCI NM_002693.2(POLG):c.3650C>T (p.Ala1217Val) SNV Uncertain significance 206575 rs199751339 GRCh37: 15:89860052-89860052
GRCh38: 15:89316821-89316821
36 POLG NM_002693.2(POLG):c.3505G>A (p.Gly1169Ser) SNV Uncertain significance 206568 rs753864625 GRCh37: 15:89860745-89860745
GRCh38: 15:89317514-89317514
37 POLG NM_002693.2(POLG):c.2059A>G (p.Ile687Val) SNV Uncertain significance 206508 rs796052881 GRCh37: 15:89867349-89867349
GRCh38: 15:89324118-89324118
38 POLG NM_002693.2(POLG):c.1328G>A (p.Arg443His) SNV Uncertain significance 206593 rs796052903 GRCh37: 15:89870503-89870503
GRCh38: 15:89327272-89327272
39 POLG NM_002693.2(POLG):c.3482+6C>T SNV Uncertain significance 138760 rs55779802 GRCh37: 15:89861766-89861766
GRCh38: 15:89318535-89318535
40 POLG NM_002693.2(POLG):c.3323A>T (p.Tyr1108Phe) SNV Uncertain significance 206475 rs765949668 GRCh37: 15:89861931-89861931
GRCh38: 15:89318700-89318700
41 POLG NM_002693.2(POLG):c.3075G>A (p.Leu1025=) SNV Uncertain significance 239380 rs146404260 GRCh37: 15:89862488-89862488
GRCh38: 15:89319257-89319257
42 POLG NM_002693.2(POLG):c.2021G>A (p.Gly674Asp) SNV Uncertain significance 206462 rs200257554 GRCh37: 15:89867387-89867387
GRCh38: 15:89324156-89324156
43 POLG NM_002693.2(POLG):c.1837C>T (p.His613Tyr) SNV Uncertain significance 193643 rs147407423 GRCh37: 15:89868793-89868793
GRCh38: 15:89325562-89325562
44 POLG NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) SNV Uncertain significance 206516 rs138457939 GRCh37: 15:89866693-89866693
GRCh38: 15:89323462-89323462
45 POLG NM_002693.2(POLG):c.2069C>T (p.Thr690Met) SNV Uncertain significance 579888 rs201677865 GRCh37: 15:89867339-89867339
GRCh38: 15:89324108-89324108
46 POLG NM_002693.2(POLG):c.1882C>T (p.Arg628Trp) SNV Uncertain significance 458698 rs754245040 GRCh37: 15:89868748-89868748
GRCh38: 15:89325517-89325517
47 POLG NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) SNV Uncertain significance 458687 rs775576189 GRCh37: 15:89870555-89870555
GRCh38: 15:89327324-89327324
48 POLG , FANCI NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) SNV Uncertain significance 458718 rs148786642 GRCh37: 15:89860035-89860035
GRCh38: 15:89316804-89316804
49 POLG NM_002693.2(POLG):c.3317T>C (p.Val1106Ala) SNV Uncertain significance 522129 rs1354582663 GRCh37: 15:89861937-89861937
GRCh38: 15:89318706-89318706
50 POLG NM_002693.2(POLG):c.2468G>A (p.Arg823His) SNV Uncertain significance 448102 rs751172552 GRCh37: 15:89865205-89865205
GRCh38: 15:89321974-89321974

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

72 (show all 31)
# Symbol AA change Variation ID SNP ID
1 POLG p.Arg3Pro VAR_012153 rs121918045
2 POLG p.Leu304Arg VAR_012154 rs121918044
3 POLG p.Ala467Thr VAR_012155 rs113994095
4 POLG p.Arg227Trp VAR_023663 rs121918056
5 POLG p.Thr251Ile VAR_023664 rs113994094
6 POLG p.Arg309Leu VAR_023665
7 POLG p.Trp312Arg VAR_023666
8 POLG p.Gly431Val VAR_023667
9 POLG p.Asn468Asp VAR_023668 rs145843073
10 POLG p.Arg579Trp VAR_023670 rs556925652
11 POLG p.Pro587Leu VAR_023671 rs113994096
12 POLG p.Gly848Ser VAR_023675 rs113994098
13 POLG p.Ala889Thr VAR_023677 rs763393580
14 POLG p.His932Tyr VAR_023679 rs121918048
15 POLG p.Arg1047Gln VAR_023683 rs768028281
16 POLG p.Gly1076Val VAR_023685
17 POLG p.Arg1096Cys VAR_023686 rs201732356
18 POLG p.Ser1104Cys VAR_023687 rs101037255
19 POLG p.Ala1105Thr VAR_023688 rs753410045
20 POLG p.Val1106Ile VAR_023689
21 POLG p.Gly268Ala VAR_058873 rs61752784
22 POLG p.Gln308His VAR_058875 rs745539599
23 POLG p.Gly380Asp VAR_058876
24 POLG p.Arg562Gln VAR_058880 rs781168350
25 POLG p.Arg574Trp VAR_058881 rs774474723
26 POLG p.Met603Leu VAR_058882
27 POLG p.Pro648Arg VAR_058884 rs796052906
28 POLG p.Gly737Arg VAR_058885 rs121918054
29 POLG p.Arg807Pro VAR_058888
30 POLG p.Arg853Trp VAR_058889 rs121918053
31 POLG p.Asp1184Asn VAR_058897 rs113169157

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

Biological processes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 8.62 TK2 POLG

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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