PEOB1
MCID: PRG104
MIFTS: 35

Progressive External Ophthalmoplegia, Autosomal Recessive 1 (PEOB1) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases, Eye diseases, Muscle diseases

Aliases & Classifications for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Aliases & Descriptions for Progressive External Ophthalmoplegia, Autosomal Recessive 1:

Name: Progressive External Ophthalmoplegia, Autosomal Recessive 1 54 50
Autosomal Recessive Progressive External Ophthalmoplegia 50 24 56
Progressive External Ophthalmoplegia with Cerebellar Ataxia Infantile 50 29
Chronic Progressive External Ophthalmoplegia 66 69
Arpeo 50 56
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive, 1 66
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 69
Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia 50
Progressive External Ophthalmoplegia, Autosomal Recessive 13
Progressive External Ophthalmoplegia Autosomal Recessive 66
Ocular Myopathy of Von Graefe-Fuchs 66
Mitochondrial Ocular Myopathy 66
Kearns-Sayre Syndrome 69
Graefe Disease 66
Peob1 66
Cpeo 66

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive progressive external ophthalmoplegia
Inheritance: Autosomal recessive; Age of onset: All ages;

HPO:

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


Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

OMIM 54 258450
Orphanet 56 ORPHA254886
ICD10 via Orphanet 34 H49.4
MedGen 40 C1850303
MeSH 42 D017246

Summaries for Progressive External Ophthalmoplegia, Autosomal Recessive 1

OMIM : 54 Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal... (258450) more...

MalaCards based summary : Progressive External Ophthalmoplegia, Autosomal Recessive 1, also known as autosomal recessive progressive external ophthalmoplegia, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome, and has symptoms including bradykinesia, gait ataxia and ptosis. An important gene associated with Progressive External Ophthalmoplegia, Autosomal Recessive 1 is POLG (DNA Polymerase Gamma, Catalytic Subunit). Affiliated tissues include eye and skeletal muscle.

UniProtKB/Swiss-Prot : 66 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, Autosomal Recessive 1

Diseases in the Total Internal Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Recessive 1 Progressive External Ophthalmoplegia, Autosomal Dominant 1
Chronic Progressive External Ophthalmoplegia Autosomal Dominant Progressive External Ophthalmoplegia

Diseases related to Progressive External Ophthalmoplegia, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
id Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 12.7
2 kearns-sayre syndrome 11.9
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.3
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.3
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.3
6 progressive external ophthalmoplegia, autosomal dominant 1 11.3
7 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.1
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.1
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.1
10 ocular muscular dystrophy 11.1
11 maternally-inherited progressive external ophthalmoplegia 11.1
12 ptosis 10.2
13 myopathy 10.2
14 strabismus 10.0
15 neuropathy 10.0
16 door syndrome 10.0 MT-TL1 POLG
17 myoclonic epilepsy associated with ragged-red fibers 9.9 MT-TL1 POLG
18 bjornstad syndrome 9.9 MT-TL1 POLG
19 mast cell neoplasm 9.9 MT-TL1 POLG
20 methylmalonic aciduria and homocystinuria type cblg 9.8 POLG TK2
21 mental retardation with spastic paraplegia 9.8 MT-TL1 POLG
22 sensorineural hearing loss 9.8
23 esophagitis 9.8
24 pharyngitis 9.8
25 retinitis 9.8
26 huntington disease 9.8
27 neuronitis 9.8
28 exophthalmos 9.8
29 keratopathy 9.8
30 ataxia 9.8
31 motor neuron disease 9.8
32 encephalopathy 9.8
33 atrioventricular block 9.8
34 third-degree atrioventricular block 9.8
35 levy-shanske syndrome 9.7 MT-TL1 POLG TK2
36 nkx2-1-related disorders 9.6 MT-TL1 POLG TK2

Graphical network of the top 20 diseases related to Progressive External Ophthalmoplegia, Autosomal Recessive 1:



Diseases related to Progressive External Ophthalmoplegia, Autosomal Recessive 1

Symptoms & Phenotypes for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Symptoms by clinical synopsis from OMIM:

258450

Clinical features from OMIM:

258450

Human phenotypes related to Progressive External Ophthalmoplegia, Autosomal Recessive 1:

32 (show all 44)
id Description HPO Frequency HPO Source Accession
1 bradykinesia 32 HP:0002067
2 gait ataxia 32 HP:0002066
3 ptosis 32 HP:0000508
4 emotional lability 32 HP:0000712
5 depression 32 HP:0000716
6 dysarthria 32 HP:0001260
7 dysphonia 32 HP:0001618
8 dysphagia 32 HP:0002015
9 facial palsy 32 HP:0010628
10 visual impairment 32 HP:0000505
11 optic atrophy 32 HP:0000648
12 respiratory insufficiency due to muscle weakness 32 HP:0002747
13 elevated serum creatine phosphokinase 32 HP:0003236
14 limb ataxia 32 HP:0002070
15 cardiomyopathy 32 HP:0001638
16 pes cavus 32 HP:0001761
17 sensory axonal neuropathy 32 HP:0003390
18 ragged-red muscle fibers 32 HP:0003200
19 mitochondrial myopathy 32 HP:0003737
20 progressive external ophthalmoplegia 32 HP:0000590
21 rigidity 32 HP:0002063
22 mitral regurgitation 32 HP:0001653
23 mitral valve prolapse 32 HP:0001634
24 areflexia 32 HP:0001284
25 hyporeflexia 32 HP:0001265
26 mildly elevated creatine phosphokinase 32 HP:0008180
27 exercise intolerance 32 HP:0003546
28 distal muscle weakness 32 HP:0002460
29 steppage gait 32 HP:0003376
30 sensory ataxic neuropathy 32 HP:0003434
31 proximal muscle weakness 32 HP:0003701
32 parkinsonism 32 HP:0001300
33 increased csf protein 32 HP:0002922
34 generalized amyotrophy 32 HP:0003700
35 increased variability in muscle fiber diameter 32 HP:0003557
36 dyschromatopsia 32 HP:0007641
37 muscle fiber necrosis 32 HP:0003713
38 emg 32 HP:0003458
39 subsarcolemmal accumulations of abnormally shaped mitochondria 32 HP:0003548
40 decreased activity of cytochrome c oxidase in muscle tissue 32 HP:0003688
41 multiple mitochondrial dna deletions 32 HP:0003689
42 impaired distal proprioception 32 HP:0006858
43 impaired distal vibration sensation 32 HP:0006886
44 positive romberg sign 32 HP:0002403

UMLS symptoms related to Progressive External Ophthalmoplegia, Autosomal Recessive 1:


cerebellar ataxia, seizures, muscle weakness, ophthalmoplegia

Drugs & Therapeutics for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Search Clinical Trials , NIH Clinical Center for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Genetic Tests for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Genetic tests related to Progressive External Ophthalmoplegia, Autosomal Recessive 1:

id Genetic test Affiliating Genes
1 Cerebellar Ataxia Infantile with Progressive External Ophthalmoplegia 29
2 Autosomal Recessive Progressive External Ophthalmoplegia 24 POLG

Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Recessive 1

MalaCards organs/tissues related to Progressive External Ophthalmoplegia, Autosomal Recessive 1:

39
Eye, Skeletal Muscle

Publications for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Variations for Progressive External Ophthalmoplegia, Autosomal Recessive 1

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

66 (show all 32)
id 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

ClinVar genetic disease variations for Progressive External Ophthalmoplegia, Autosomal Recessive 1:

6
id 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.911T> G (p.Leu304Arg) single nucleotide variant Pathogenic rs121918044 GRCh37 Chromosome 15, 89872286: 89872286
3 POLG NM_002693.2(POLG): c.8G> C (p.Arg3Pro) single nucleotide variant Pathogenic rs121918045 GRCh37 Chromosome 15, 89876978: 89876978
4 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
5 POLG NM_002693.2(POLG): c.2557C> T (p.Arg853Trp) single nucleotide variant Pathogenic rs121918053 GRCh37 Chromosome 15, 89865008: 89865008
6 POLG NM_002693.2(POLG): c.2554C> T (p.Arg852Cys) single nucleotide variant Pathogenic rs144500145 GRCh38 Chromosome 15, 89321780: 89321780
7 POLG NM_002693.2(POLG): c.3612_3613insAACT (p.Gly1205Asnfs) insertion Pathogenic rs886043241 GRCh37 Chromosome 15, 89860637: 89860638

Expression for Progressive External Ophthalmoplegia, Autosomal Recessive 1

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia, Autosomal Recessive 1.

Pathways for Progressive External Ophthalmoplegia, Autosomal Recessive 1

GO Terms for Progressive External Ophthalmoplegia, Autosomal Recessive 1

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

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

Sources for Progressive External Ophthalmoplegia, Autosomal Recessive 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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