ADPEO
MCID: ATS025
MIFTS: 43

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO) malady

Metabolic diseases category

Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

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46OMIM, 32MalaCards
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MalaCards: Autosomal Dominant Progressive External Ophthalmoplegia, also known as progressive external ophthalmoplegia, autosomal dominant, is related to ophthalmoplegia and hypogonadism. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (polymerase (DNA directed), gamma), and among its related pathways are Gemcitabine Pathway, Pharmacodynamics and superpathway of pyrimidine deoxyribonucleotides de novo biosynthesis (E. coli). The compounds abacavir and mgcl2 have been mentioned in the context of this disorder. Affiliated tissues include eye and skeletal muscle, and related mouse phenotypes are adipose tissue and muscle.

Description from OMIM:46 157640,609283,609286,610131,613077

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

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20GeneTests, 48Orphanet, 46OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Metabolic diseases


Aliases & Descriptions:

autosomal dominant progressive external ophthalmoplegia 20 48
progressive external ophthalmoplegia, autosomal dominant 46
adpeo 48


External Ids:

ICD10 via Orphanet26 H49.4

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Autosomal Dominant Progressive External Ophthalmoplegia:



Diseases related to autosomal dominant progressive external ophthalmoplegia

Clinical Features for Autosomal Dominant Progressive External Ophthalmoplegia

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46OMIM
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Clinical features from OMIM:

157640,609283,609286,610131,613077

Clinical synopsis from OMIM:

157640

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Autosomal Dominant Progressive External Ophthalmoplegia

Drug clinical trials:

Search ClinicalTrials for Autosomal Dominant Progressive External Ophthalmoplegia

Search NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Search CenterWatch for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

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20GeneTests
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Genetic tests related to Autosomal Dominant Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia20 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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32MalaCards
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MalaCards organs/tissues related to Autosomal Dominant Progressive External Ophthalmoplegia:

32
Eye, Skeletal muscle

Animal Models for Autosomal Dominant Progressive External Ophthalmoplegia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.4HELLS, OPA1, POLG, RRM2B
2MP:00053698.3TFAM, OPA1, POLG, RRM2B, SLC25A4
3MP:00053858.1C10orf2, TFAM, OPA1, POLG, RRM2B, SLC25A4
4MP:00053808.0C10orf2, HELLS, TFAM, OPA1, POLG, POLG2
5MP:00107687.6RRM2B, POLG2, POLG, OPA1, TFAM, HELLS
6MP:00053847.4SLC25A4, C10orf2, HELLS, TFAM, OPA1, POLG

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

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Genetic Variations for Autosomal Dominant Progressive External Ophthalmoplegia

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Autosomal Dominant Progressive External Ophthalmoplegia:

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

Expression for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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

Pathways for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
49PharmGKB, 37NCBI BioSystems Database, 53Reactome, 29KEGG, 12EMD Millipore
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Pathways related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 12)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6RRM2B, RRM1
2
Hide members
9.6RRM2B, RRM1
3
Hide members
9.6RRM1, RRM2B
4
Glutathione metabolism
Hide members
9.6RRM1, RRM2B
59.6TFAM, POLRMT
6
Hide members
9.6POLRMT, TFAM
79.4RRM1, RRM2B, POLG
89.3SLC25A6, SLC25A4
99.3SLC25A4, SLC25A6
109.3SLC25A4, SLC25A6
11
Hide members
9.2RRM1, RRM2B, POLRMT
12
Hide members
8.4SLC25A4, SLC25A6, RRM1, RRM2B

Compounds for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1abacavir44 49 1112.1POLG2, POLG
2mgcl2449.9HELLS, POLG
3dcdp44 2410.8RRM1, RRM2B
4dttp449.8HELLS, POLG
5Cladribine119.8RRM2B, RRM1
6diethyl dithiocarbamate449.7TFAM, POLG, POLG2
7dctp44 2410.7POLG, HELLS
8lamivudine44 1110.6POLG2, POLG
9dgtp44 2410.6HELLS, POLG
10hydroxyurea44 49 1111.4RRM1, RRM2B, HELLS
11clodronate44 49 1111.3SLC25A4, SLC25A6
12Adenosine triphosphate11 249.9SLC25A4, RRM1, RRM2B, POLRMT
13cisplatin44 49 59 1111.8HELLS, TFAM, RRM2B, RRM1
14nucleoside448.7HELLS, POLRMT, POLG, POLG2, RRM1
15adp44 28 249.9HELLS, POLG, RRM2B, RRM1, SLC25A6, SLC25A4
16atp44 287.9SLC25A4, HELLS, TFAM, OPA1, POLG, POLG2

GO Terms for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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16Gene Ontology
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Cellular components related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:0426458.6POLG2, POLG, POLRMT, TFAM, C10orf2
2mitochondrial inner membraneGO:0057438.4SLC25A4, SLC25A6, POLG, OPA1
3mitochondrionGO:0057397.7TFAM, OPA1, POLRMT, POLG, POLG2, SLC25A4

Biological processes related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial DNA replicationGO:0062649.6RRM2B, POLG, C10orf2
2nucleobase-containing small molecule interconversionGO:0159499.6RRM1, RRM2B
3transcription initiation from mitochondrial promoterGO:0063919.5POLRMT, TFAM
4DNA-dependent DNA replicationGO:0062619.4TFAM, POLG, POLG2
5deoxyribonucleotide biosynthetic processGO:0092639.3RRM1, RRM2B
6transcription from mitochondrial promoterGO:0063909.3POLRMT, TFAM, C10orf2

Molecular functions related to Autosomal Dominant Progressive External Ophthalmoplegia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA-directed DNA polymerase activityGO:0038879.9POLG2, POLG
2protease bindingGO:0020209.8POLG, C10orf2
3ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptorGO:0047489.7RRM1, RRM2B
4chromatin bindingGO:0036828.9POLG, TFAM, HELLS
5protein bindingGO:0055156.9HELLS, TFAM, OPA1, POLRMT, POLG, POLG2

Products for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet