ADPEO
MCID: ATS025
MIFTS: 29

Autosomal Dominant Progressive External Ophthalmoplegia (ADPEO) malady

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

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

Aliases & Descriptions for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 24 56
Adpeo 56

Classifications:

Orphanet: 56  
Inborn errors of metabolism


External Ids:

Orphanet 56 ORPHA254892
ICD10 via Orphanet 34 H49.4

Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

MalaCards based summary : Autosomal Dominant Progressive External Ophthalmoplegia, also known as adpeo, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (DNA Polymerase Gamma, Catalytic Subunit), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Mitochondrial Gene Expression. Related phenotypes are cellular and mortality/aging

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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 Autosomal Dominant Progressive External Ophthalmoplegia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
id Related Disease Score Top Affiliating Genes
1 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 11.0
2 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.0
3 progressive external ophthalmoplegia, autosomal dominant 1 11.0
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.0
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.0
6 combined pituitary hormone deficiency 10.1 POLG TWNK
7 peroxisome biogenesis disorders, zellweger syndrome spectrum 10.1 POLG TWNK
8 fanconi anemia, complementation group i 10.1 POLG TWNK
9 idiopathic dropped head syndrome 10.1 POLG RRM2B
10 growth hormone deficiency, isolated partial 10.1 POLG TWNK
11 hypogonadism 10.1
12 cocoon syndrome 10.0 SLC25A4 TWNK
13 msx2-related craniosynostosis 10.0 TFAM TWNK
14 chronic lacrimal gland enlargement 10.0 POLG SLC25A4 TWNK
15 deafness, autosomal dominant 30 10.0 POLG POLG2
16 ichthyosis 9.9
17 dyscalculia 9.9 POLG POLG2 SLC25A4 TWNK
18 mental retardation with spastic paraplegia 9.9 POLG RRM2B SLC25A4 TWNK
19 nkx2-1-related disorders 9.5 OPA1 POLG POLG2 SLC25A4 TFAM TWNK
20 bbs2-related bardet-biedl syndrome 8.5 DNA2 OPA1 POLG POLG2 POLRMT RRM1

Graphical network of the top 20 diseases related to Autosomal Dominant Progressive External Ophthalmoplegia:



Diseases related to Autosomal Dominant Progressive External Ophthalmoplegia

Symptoms & Phenotypes for Autosomal Dominant Progressive External Ophthalmoplegia

MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.76 RRM2B SLC25A4 TFAM TWNK DNA2 OPA1
2 mortality/aging MP:0010768 9.56 RRM2B TFAM TWNK DNA2 OPA1 POLG
3 muscle MP:0005369 9.02 RRM2B SLC25A4 TFAM OPA1 POLG

Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic tests related to Autosomal Dominant Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia 24 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 22)
id Title Authors Year
1
Twinkle mutations in two Chinese families with autosomal dominant progressive external ophthalmoplegia. ( 24091712 )
2013
2
TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. ( 20880070 )
2011
3
SLC25A4 and C10ORF2 Mutations in Autosomal Dominant Progressive External Ophthalmoplegia. ( 21519523 )
2011
4
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene. ( 19705478 )
2010
5
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. ( 19664747 )
2009
6
Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. ( 19853444 )
2009
7
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. ( 18971204 )
2009
8
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. ( 17272269 )
2007
9
A novel ANT1 gene mutation with probable germline mosaicism in autosomal dominant progressive external ophthalmoplegia. ( 15792871 )
2005
10
Two families with autosomal dominant progressive external ophthalmoplegia. ( 15258213 )
2004
11
Structure-function defects of human mitochondrial DNA polymerase in autosomal dominant progressive external ophthalmoplegia. ( 15258572 )
2004
12
A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia. ( 12921794 )
2003
13
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. ( 12112115 )
2002
14
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. ( 10364542 )
1999
15
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. ( 10522883 )
1999
16
Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions. ( 10408540 )
1999
17
Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia. ( 9443501 )
1998
18
Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study. ( 9851061 )
1998
19
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. ( 9153451 )
1997
20
Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8941270 )
1996
21
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia. ( 8957011 )
1996
22
Muscle-nerve involvement in autosomal dominant progressive external ophthalmoplegia with hypogonadism. ( 8609926 )
1996

Variations for Autosomal Dominant Progressive External Ophthalmoplegia

Expression for Autosomal Dominant Progressive External Ophthalmoplegia

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

Pathways for Autosomal Dominant Progressive External Ophthalmoplegia

GO Terms for Autosomal Dominant Progressive External Ophthalmoplegia

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

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 DNA2 OPA1 POLG POLG2 POLRMT RRM2B
2 mitochondrial matrix GO:0005759 9.56 POLG2 POLRMT TFAM TWNK
3 gamma DNA polymerase complex GO:0005760 9.16 DNA2 POLG
4 mitochondrial nucleoid GO:0042645 9.1 DNA2 POLG POLG2 POLRMT TFAM TWNK

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 9.55 POLG POLG2
2 mitochondrion organization GO:0007005 9.55 OPA1 POLG2 POLRMT TFAM TWNK
3 nucleobase-containing small molecule interconversion GO:0015949 9.54 RRM1 RRM2B
4 mitochondrion morphogenesis GO:0070584 9.52 OPA1 POLG2
5 mitochondrial genome maintenance GO:0000002 9.51 OPA1 SLC25A4
6 DNA-dependent DNA replication GO:0006261 9.5 POLG POLG2 TFAM
7 regulation of mitochondrial membrane permeability GO:0046902 9.49 SLC25A4 SLC25A6
8 ATP transport GO:0015867 9.48 SLC25A4 SLC25A6
9 ADP transport GO:0015866 9.46 SLC25A4 SLC25A6
10 adenine transport GO:0015853 9.43 SLC25A4 SLC25A6
11 transcription from mitochondrial promoter GO:0006390 9.43 POLRMT TFAM TWNK
12 DNA replication GO:0006260 9.43 DNA2 POLG POLG2 RRM1 RRM2B TWNK
13 transcription initiation from mitochondrial promoter GO:0006391 9.4 POLRMT TFAM
14 deoxyribonucleotide biosynthetic process GO:0009263 9.37 RRM1 RRM2B
15 mitochondrial DNA replication GO:0006264 8.92 DNA2 POLG RRM2B TWNK

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

id Name GO ID Score Top Affiliating Genes
1 nucleotidyltransferase activity GO:0016779 9.5 POLG POLG2 POLRMT
2 DNA-directed DNA polymerase activity GO:0003887 9.4 POLG POLG2
3 DNA helicase activity GO:0003678 9.37 DNA2 TWNK
4 5-3 DNA helicase activity GO:0043139 9.26 DNA2 TWNK
5 ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor GO:0004748 9.16 RRM1 RRM2B
6 ATP:ADP antiporter activity GO:0005471 8.96 SLC25A4 SLC25A6
7 adenine transmembrane transporter activity GO:0015207 8.62 SLC25A4 SLC25A6

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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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
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47 NCIt
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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