PEOB1
MCID: PRG131
MIFTS: 41

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

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare 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
Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia 53 29 6
Autosomal Recessive Progressive External Ophthalmoplegia 53 59 37
Progressive External Ophthalmoplegia, Autosomal Recessive 1 57 53
Chronic Progressive External Ophthalmoplegia 75 73
Peob1 57 75
Arpeo 53 59
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Recessive, Type 1 40
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive, 1 75
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 73
Progressive External Ophthalmoplegia with Cerebellar Ataxia Infantile 53
Progressive External Ophthalmoplegia, Autosomal Recessive 13
Progressive External Ophthalmoplegia Autosomal Recessive 75
Ocular Myopathy of Von Graefe-Fuchs 75
Mitochondrial Ocular Myopathy 75
Kearns-Sayre Syndrome 73
Graefe Disease 75
Cpeo 75

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive progressive external ophthalmoplegia
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
highly variable phenotype
onset in late teens to twenties
peo is not always present
sando is a phenotypic variant of autosomal recessive peo
see also autosomal dominant peoa1


HPO:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1:
Onset and clinical course adult onset phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



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)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1, also known as cerebellar ataxia infantile with progressive external ophthalmoplegia, is related to mitochondrial myopathy and mitochondrial metabolism disease, 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 bone, and related phenotypes are ptosis and depressivity

UniProtKB/Swiss-Prot : 75 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 Recessive 1 family:

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 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 all 50)
# Related Disease Score Top Affiliating Genes
1 mitochondrial myopathy 30.0 POLG TK2
2 mitochondrial metabolism disease 29.4 POLG TK2
3 chronic progressive external ophthalmoplegia 12.9
4 kearns-sayre syndrome 12.2
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 12.0
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 12.0
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 12.0
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 12.0
9 ocular muscular dystrophy 11.7
10 maternally-inherited progressive external ophthalmoplegia 11.7
11 strabismus 11.6
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.6
13 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.4
14 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.1
15 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.1
16 ptosis 10.4
17 myopathy 10.4
18 optic nerve disease 10.2
19 neuropathy 10.2
20 multiple sclerosis 10.1
21 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
22 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
23 exotropia 10.1
24 atrial standstill 1 10.0
25 huntington disease 10.0
26 hypercholesterolemia, familial 10.0
27 macular dystrophy, dominant cystoid 10.0
28 retinitis pigmentosa 10.0
29 aging 10.0
30 focal segmental glomerulosclerosis 1 10.0
31 leber congenital amaurosis 4 10.0
32 focal segmental glomerulosclerosis 10.0
33 keratopathy 10.0
34 motor neuron disease 10.0
35 atrioventricular block 10.0
36 third-degree atrioventricular block 10.0
37 sensorineural hearing loss 10.0
38 retinitis 10.0
39 macular retinal edema 10.0
40 intracranial hypotension 10.0
41 exophthalmos 10.0
42 mitochondrial disorders 10.0
43 encephalopathy 10.0
44 mitochondrial complex iv deficiency 9.9
45 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
46 peripheral nervous system disease 9.9
47 esotropia 9.9
48 dysphagia 9.9
49 coenzyme q10 deficiency disease 9.8 POLG TK2
50 mitochondrial dna depletion syndrome 9.8 POLG TK2

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...

Symptoms via clinical synopsis from OMIM:

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

Abdomen Gastrointestinal:
dysphagia

Neurologic Central Nervous System:
gait ataxia
limb ataxia
rigidity
bradykinesia
parkinsonism
more
Neurologic Peripheral Nervous System:
sensory axonal neuropathy
areflexia
hyporeflexia
sensory ataxic neuropathy
decreased sensory nerve action potentials
more
Laboratory Abnormalities:
increased csf protein
mildly increased creatine kinase

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

Skeletal Feet:
pes cavus
'clawed' toes

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

Neurologic Behavioral Psychiatric Manifestations:
depression
emotional instability


Clinical features from OMIM:

258450

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

59 32 (show top 50) (show all 69)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000508
2 depressivity 59 32 occasional (7.5%) Occasional (29-5%) HP:0000716
3 ataxia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001251
4 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
5 facial palsy 59 32 frequent (33%) Frequent (79-30%) HP:0010628
6 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
7 visual impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000505
8 optic atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0000648
9 cognitive impairment 59 32 very rare (1%) Very rare (<4-1%) HP:0100543
10 myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003198
11 elevated serum creatine phosphokinase 59 32 very rare (1%) Very rare (<4-1%) HP:0003236
12 cardiomyopathy 59 32 occasional (7.5%) Frequent (79-30%) HP:0001638
13 sensory axonal neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0003390
14 scapular winging 59 32 very rare (1%) Very rare (<4-1%) HP:0003691
15 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
16 ragged-red muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003200
17 paresthesia 59 32 frequent (33%) Frequent (79-30%) HP:0003401
18 mitochondrial myopathy 59 32 frequent (33%) Frequent (79-30%) HP:0003737
19 muscle stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003552
20 hyporeflexia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001265
21 action tremor 59 32 occasional (7.5%) Occasional (29-5%) HP:0002345
22 proximal muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0003701
23 weak voice 59 32 occasional (7.5%) Occasional (29-5%) HP:0001621
24 cerebellar atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0001272
25 bradykinesia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002067
26 muscle fiber atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0100295
27 exercise intolerance 59 32 occasional (7.5%) Occasional (29-5%) HP:0003546
28 shuffling gait 59 32 occasional (7.5%) Occasional (29-5%) HP:0002362
29 abnormality of the cerebrospinal fluid 59 32 occasional (7.5%) Occasional (29-5%) HP:0002921
30 abnormal retinal morphology 59 32 occasional (7.5%) Occasional (29-5%) HP:0000479
31 external ophthalmoplegia 59 32 frequent (33%) Frequent (79-30%) HP:0000544
32 cerebral atrophy 59 32 occasional (7.5%) Occasional (29-5%) HP:0002059
33 optic neuritis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100653
34 parkinsonism with favorable response to dopaminergic medication 59 32 occasional (7.5%) Occasional (29-5%) HP:0002548
35 hand muscle weakness 59 32 occasional (7.5%) Occasional (29-5%) HP:0030237
36 distal sensory impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0002936
37 abnormality of the cerebral white matter 59 32 occasional (7.5%) Occasional (29-5%) HP:0002500
38 cogwheel rigidity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002396
39 dyschromatopsia 59 32 occasional (7.5%) Occasional (29-5%) HP:0007641
40 cytochrome c oxidase-negative muscle fibers 59 32 frequent (33%) Frequent (79-30%) HP:0003688
41 stooped posture 59 32 occasional (7.5%) Occasional (29-5%) HP:0025403
42 emotional lability 32 HP:0000712
43 dysarthria 32 HP:0001260
44 dysphonia 32 HP:0001618
45 respiratory insufficiency due to muscle weakness 32 HP:0002747
46 peripheral neuropathy 59 Frequent (79-30%)
47 gait ataxia 32 HP:0002066
48 limb ataxia 32 HP:0002070
49 pes cavus 32 HP:0001761
50 progressive external ophthalmoplegia 32 HP:0000590

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


seizures, muscle weakness, ophthalmoplegia, cerebellar ataxia

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 POLG TK2

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

Search Clinical Trials , 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 Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia 29 POLG

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

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

41
Eye, Skeletal Muscle, Bone

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

# Title Authors Year
1
Thymidine kinase 2 mutations in autosomal recessive progressive external ophthalmoplegia with multiple mitochondrial DNA deletions. ( 21937588 )
2012
2
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. ( 21951382 )
2011

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

75 (show all 32)
# 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.Arg1146Cys VAR_014910 rs2307440
5 POLG p.Arg227Trp VAR_023663 rs121918056
6 POLG p.Thr251Ile VAR_023664 rs113994094
7 POLG p.Arg309Leu VAR_023665
8 POLG p.Trp312Arg VAR_023666
9 POLG p.Gly431Val VAR_023667
10 POLG p.Asn468Asp VAR_023668 rs145843073
11 POLG p.Arg579Trp VAR_023670 rs556925652
12 POLG p.Pro587Leu VAR_023671 rs113994096
13 POLG p.Gly848Ser VAR_023675 rs113994098
14 POLG p.Ala889Thr VAR_023677 rs763393580
15 POLG p.His932Tyr VAR_023679 rs121918048
16 POLG p.Arg1047Gln VAR_023683 rs768028281
17 POLG p.Gly1076Val VAR_023685
18 POLG p.Arg1096Cys VAR_023686 rs201732356
19 POLG p.Ser1104Cys VAR_023687
20 POLG p.Ala1105Thr VAR_023688 rs753410045
21 POLG p.Val1106Ile VAR_023689
22 POLG p.Gly268Ala VAR_058873 rs61752784
23 POLG p.Gln308His VAR_058875 rs745539599
24 POLG p.Gly380Asp VAR_058876
25 POLG p.Arg562Gln VAR_058880 rs781168350
26 POLG p.Arg574Trp VAR_058881 rs774474723
27 POLG p.Met603Leu VAR_058882
28 POLG p.Pro648Arg VAR_058884 rs796052906
29 POLG p.Gly737Arg VAR_058885 rs121918054
30 POLG p.Arg807Pro VAR_058888
31 POLG p.Arg853Trp VAR_058889 rs121918053
32 POLG p.Asp1184Asn VAR_058897 rs113169157

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

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh37 Chromosome 15, 89870432: 89870432
2 POLG NM_002693.2(POLG): c.1399G> A (p.Ala467Thr) single nucleotide variant Pathogenic/Likely pathogenic rs113994095 GRCh38 Chromosome 15, 89327201: 89327201
3 POLG NM_002693.2(POLG): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918044 GRCh37 Chromosome 15, 89872286: 89872286
4 POLG NM_002693.2(POLG): c.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121918044 GRCh38 Chromosome 15, 89329055: 89329055
5 POLG NM_002693.2(POLG): c.8G> C (p.Arg3Pro) single nucleotide variant Pathogenic rs121918045 GRCh37 Chromosome 15, 89876978: 89876978
6 POLG NM_002693.2(POLG): c.8G> C (p.Arg3Pro) single nucleotide variant Pathogenic rs121918045 GRCh38 Chromosome 15, 89333747: 89333747
7 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
8 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
9 POLG NM_002693.2(POLG): c.752C> T (p.Thr251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs113994094 GRCh37 Chromosome 15, 89873415: 89873415
10 POLG NM_002693.2(POLG): c.752C> T (p.Thr251Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs113994094 GRCh38 Chromosome 15, 89330184: 89330184
11 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh37 Chromosome 15, 89868870: 89868870
12 POLG NM_002693.2(POLG): c.1760C> T (p.Pro587Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs113994096 GRCh38 Chromosome 15, 89325639: 89325639
13 POLG NM_002693.2(POLG): c.2557C> T (p.Arg853Trp) single nucleotide variant Uncertain significance rs121918053 GRCh37 Chromosome 15, 89865008: 89865008
14 POLG NM_002693.2(POLG): c.2557C> T (p.Arg853Trp) single nucleotide variant Uncertain significance rs121918053 GRCh38 Chromosome 15, 89321777: 89321777
15 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh37 Chromosome 15, 89866691: 89866691
16 POLG NM_002693.2(POLG): c.2209G> C (p.Gly737Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs121918054 GRCh38 Chromosome 15, 89323460: 89323460
17 POLG NM_002693.2(POLG): c.3131T> C (p.Val1044Ala) single nucleotide variant Uncertain significance rs150233690 GRCh37 Chromosome 15, 89862304: 89862304
18 POLG NM_002693.2(POLG): c.3131T> C (p.Val1044Ala) single nucleotide variant Uncertain significance rs150233690 GRCh38 Chromosome 15, 89319073: 89319073
19 POLG NM_002693.2(POLG): c.2601T> C (p.Pro867=) single nucleotide variant Conflicting interpretations of pathogenicity rs201749977 GRCh38 Chromosome 15, 89321258: 89321258
20 POLG NM_002693.2(POLG): c.2601T> C (p.Pro867=) single nucleotide variant Conflicting interpretations of pathogenicity rs201749977 GRCh37 Chromosome 15, 89864489: 89864489
21 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh37 Chromosome 15, 89871763: 89871763
22 POLG NM_002693.2(POLG): c.1174C> G (p.Leu392Val) single nucleotide variant Conflicting interpretations of pathogenicity rs145289229 GRCh38 Chromosome 15, 89328532: 89328532
23 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh38 Chromosome 15, 89323462: 89323462
24 POLG NM_002693.2(POLG): c.2207A> G (p.Asn736Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs138457939 GRCh37 Chromosome 15, 89866693: 89866693
25 POLG NM_002693.2(POLG): c.2419C> T (p.Arg807Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs769827124 GRCh37 Chromosome 15, 89865980: 89865980
26 POLG NM_002693.2(POLG): c.2419C> T (p.Arg807Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs769827124 GRCh38 Chromosome 15, 89322749: 89322749
27 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh37 Chromosome 15, 89860637: 89860638
28 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh38 Chromosome 15, 89317406: 89317407
29 POLG NM_002693.2(POLG): c.260T> C (p.Ile87Thr) single nucleotide variant not provided rs776347449 GRCh38 Chromosome 15, 89333495: 89333495
30 POLG NM_002693.2(POLG): c.260T> C (p.Ile87Thr) single nucleotide variant not provided rs776347449 GRCh37 Chromosome 15, 89876726: 89876726

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 POLG TK2

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