MCID: PRG056
MIFTS: 42

Progressive External Ophthalmoplegia, Autosomal Dominant malady

Genetic diseases, Metabolic diseases, Rare diseases, Eye diseases, Neuronal diseases categories

Summaries for Progressive External Ophthalmoplegia, Autosomal Dominant

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OMIM:45 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The... (157640) more...

MalaCards based summary: Progressive External Ophthalmoplegia, Autosomal Dominant, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1, is related to ophthalmoplegia and progressive external ophthalmoplegia, autosomal dominant, 3, and has symptoms including autosomal dominant inheritance, testicular atrophy and sensorineural hearing impairment. An important gene associated with Progressive External Ophthalmoplegia, Autosomal Dominant is POLG (polymerase (DNA directed), gamma), and among its related pathways are Nucleotide Metabolism and Metabolism. The compounds abacavir and lamivudine have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are muscle and cardiovascular system.

Aliases & Classifications for Progressive External Ophthalmoplegia, Autosomal Dominant

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Sources:
45OMIM, 10diseasecard, 20GeneTests, 22GTR, 47Orphanet, 26ICD10 via Orphanet
See all sources

Progressive External Ophthalmoplegia, Autosomal Dominant, Aliases & Descriptions:

Name: Progressive External Ophthalmoplegia, Autosomal Dominant 45 10 20
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 1 45 22
 
Autosomal Dominant Progressive External Ophthalmoplegia 47
Adpeo 47


Classifications:



External Ids:

OMIM45 157640
Orphanet47 254892
ICD10 via Orphanet26 H49.4

Related Diseases for Progressive External Ophthalmoplegia, Autosomal Dominant

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Graphical network of diseases related to Progressive External Ophthalmoplegia, Autosomal Dominant:



Diseases related to progressive external ophthalmoplegia, autosomal dominant

Symptoms for Progressive External Ophthalmoplegia, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

157640

Clinical features from OMIM:

157640

HPO human phenotypes related to Progressive External Ophthalmoplegia, Autosomal Dominant:

(show all 40)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 testicular atrophy HP:0000029
3 sensorineural hearing impairment HP:0000407
4 ptosis HP:0000508
5 cataract HP:0000518
6 progressive external ophthalmoplegia HP:0000590
7 depression HP:0000716
8 primary amenorrhea HP:0000786
9 hypergonadotropic hypogonadism HP:0000815
10 secondary amenorrhea HP:0000869
11 dysarthria HP:0001260
12 hyporeflexia HP:0001265
13 pes cavus HP:0001761
14 dysphagia HP:0002015
15 rigidity HP:0002063
16 gait ataxia HP:0002066
17 bradykinesia HP:0002067
18 increased serum lactate HP:0002151
19 resting tremor HP:0002322
20 parkinsonism with favorable response to dopaminergic medication HP:0002548
21 gastroparesis HP:0002578
22 ragged-red muscle fibers HP:0003200
23 amyotrophy HP:0003202
24 progressive muscle weakness HP:0003323
25 sensory axonal neuropathy HP:0003390
26 emg HP:0003458
27 exercise intolerance HP:0003546
28 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
29 increased variability in muscle fiber diameter HP:0003557
30 adult onset HP:0003581
31 progressive disorder HP:0003676
32 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
33 multiple mitochondrial dna deletions HP:0003689
34 limb muscle weakness HP:0003690
35 muscle fiber necrosis HP:0003713
36 phenotypic variability HP:0003812
37 impaired distal proprioception HP:0006858
38 impaired distal vibration sensation HP:0006886
39 premature ovarian failure HP:0008209
40 facial palsy HP:0010628

Drugs & Therapeutics for Progressive External Ophthalmoplegia, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Progressive External Ophthalmoplegia, Autosomal Dominant

Search NIH Clinical Center for Progressive External Ophthalmoplegia, Autosomal Dominant

Genetic Tests for Progressive External Ophthalmoplegia, Autosomal Dominant

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Genetic tests related to Progressive External Ophthalmoplegia, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia20 POLG
2 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 122

Anatomical Context for Progressive External Ophthalmoplegia, Autosomal Dominant

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

31
Eye, Skeletal muscle

Animal Models for Progressive External Ophthalmoplegia, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Progressive External Ophthalmoplegia, Autosomal Dominant:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.7SLC25A4, POLG, RRM2B
2MP:00053857.9C10orf2, RRM2B, POLG, SLC25A4
3MP:00053847.4SLC25A4, POLG2, POLG, RRM2B, C10orf2

Publications for Progressive External Ophthalmoplegia, Autosomal Dominant

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Variations for Progressive External Ophthalmoplegia, Autosomal Dominant

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

62
id Symbol AA change Variation ID SNP ID
1POLGp.Tyr955CysVAR_012156
2POLGp.Tyr831CysVAR_023674rs4154971
3POLGp.Gly923AspVAR_023678
4POLGp.Arg943HisVAR_023680
5POLGp.Arg953CysVAR_023681rs11546842
6POLGp.Ala957SerVAR_023682
7POLGp.Ser1176LeuVAR_023690
8POLGp.Ser511AsnVAR_058878
9POLGp.Asp1186HisVAR_065119

Clinvar genetic disease variations for Progressive External Ophthalmoplegia, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1POLGNM_002693.2(POLG): c.2864A> G (p.Tyr955Cys)single nucleotide variantPathogenicrs113994099GRCh37Chr 15, 89864114: 89864114
2POLGNM_002693.2(POLG): c.2869G> T (p.Ala957Ser)single nucleotide variantPathogenicrs121918051GRCh37Chr 15, 89864109: 89864109
3POLGNM_002693.2(POLG): c.2492A> G (p.Tyr831Cys)single nucleotide variantPathogenicrs41549716GRCh37Chr 15, 89865073: 89865073
4POLGNM_002693.2(POLG): c.1532G> A (p.Ser511Asn)single nucleotide variantPathogenicrs121918055GRCh37Chr 15, 89870196: 89870196

Expression for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant

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

Pathways for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant

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Pathways related to Progressive External Ophthalmoplegia, Autosomal Dominant according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2POLG, RRM2B
2
Show member pathways
8.1SLC25A4, POLG2, POLG, RRM2B

Compounds for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant

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Sources:
49PharmGKB, 43Novoseek, 12DrugBank, 28IUPHAR, 24HMDB
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Compounds related to Progressive External Ophthalmoplegia, Autosomal Dominant according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1abacavir49 43 1211.6POLG2, POLG
2lamivudine43 49 1211.5POLG2, POLG
3diethyl dithiocarbamate439.5POLG2, POLG
4zidovudine43 49 1211.5POLG2, POLG
5nucleoside439.3POLG2, POLG
6atp43 289.9SLC25A4, POLG2, POLG
7adp43 28 2410.7RRM2B, POLG, SLC25A4
8oxygen43 249.4SLC25A4, POLG, RRM2B

GO Terms for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant

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Cellular components related to Progressive External Ophthalmoplegia, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426458.9POLG2, POLG, C10orf2

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

idNameGO IDScoreTop Affiliating Genes
1cell deathGO:00082199.5POLG, C10orf2
2DNA-dependent DNA replicationGO:00062619.1POLG2, POLG
3mitochondrial DNA replicationGO:00062648.6POLG, RRM2B, C10orf2

Molecular functions related to Progressive External Ophthalmoplegia, Autosomal Dominant according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.5POLG, C10orf2
2DNA-directed DNA polymerase activityGO:00038879.1POLG2, POLG

Products for genes affiliated with Progressive External Ophthalmoplegia, Autosomal Dominant

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  • Antibodies
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  • Kits and Assays

Sources for Progressive External Ophthalmoplegia, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet