MCID: ATS025
MIFTS: 33

Autosomal Dominant Progressive External Ophthalmoplegia malady

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

Aliases & Classifications for Autosomal Dominant Progressive External Ophthalmoplegia

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Sources:
22GeneTests, 51Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Autosomal Dominant Progressive External Ophthalmoplegia:

Name: Autosomal Dominant Progressive External Ophthalmoplegia 22 51
 
Adpeo 51

Classifications:



External Ids:

Orphanet51 254892
ICD10 via Orphanet28 H49.4

Summaries for Autosomal Dominant Progressive External Ophthalmoplegia

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MalaCards based summary: Autosomal Dominant Progressive External Ophthalmoplegia, also known as adpeo, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 and progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6. An important gene associated with Autosomal Dominant Progressive External Ophthalmoplegia is POLG (Polymerase (DNA) Gamma, Catalytic Subunit), and among its related pathways are Cell Cycle Control of Chromosomal Replication and Gemcitabine, Pharmacokinetics/Pharmacodynamics Pathway. Affiliated tissues include endothelial, lung and thyroid, and related mouse phenotypes are muscle and cardiovascular system.

Related Diseases for Autosomal Dominant Progressive External Ophthalmoplegia

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Diseases in the Ophthalmoplegia family:

Progressive External Ophthalmoplegia, Autosomal Recessive 1 Progressive External Ophthalmoplegia, Autosomal Dominant 1
Total Internal Ophthalmoplegia 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 38)
idRelated DiseaseScoreTop Affiliating Genes
1progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.5
2progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 610.5
3progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 310.5
4progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.5
5progressive external ophthalmoplegia, autosomal dominant 110.5
6hepatitis10.5
7schizophrenia10.3
8multiple myeloma10.3
9marfan syndrome10.3
10atherosclerosis10.3
11bipolar disorder10.3
12leukemia10.3
133-methylglutaconic aciduria10.3
14myeloma10.3
15lymphoblastic leukemia10.3
16dumping syndrome10.3
17viral hepatitis10.3
18thymoma10.3
19myeloid leukemia10.3
20hepatopulmonary syndrome10.3
21aneurysm10.3
22myotonia10.3
23autoimmune addison disease10.1C10orf2, POLG
24prickle1-related progressive myoclonus epilepsy with ataxia10.1C10orf2, POLG
25deafness, autosomal dominant 3010.0C10orf2, POLG
26hyperostosis cranialis interna10.0POLG, RRM2B
27hemorrhagic cystitis10.0C10orf2, POLG
28mitochondrial recessive ataxia syndrome10.0C10orf2, POLG, POLG2
29perrault syndrome 59.9C10orf2, POLG, SLC25A4
30ocular motility disease9.9C10orf2, POLG, SLC25A4
31hallucinogen abuse9.9C10orf2, POLG, SLC25A4
32thoracic outlet syndrome9.9C10orf2, TFAM
33ovarian serous cystadenofibroma9.8C10orf2, POLG, SLC25A4
34lipid-rich carcinoma9.8OPA1, POLG
35idiopathic juvenile osteoporosis9.7C10orf2, POLG, POLG2, SLC25A4
36mitochondrial membrane protein-associated neurodegeneration9.1C10orf2, OPA1, POLG, POLG2, SLC25A4, TFAM
37clear cell adenoma9.0C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B
38autosomal recessive juvenile amyotrophic lateral sclerosis7.6C10orf2, DNA2, OPA1, POLG, POLG2, POLRMT

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



Diseases related to autosomal dominant progressive external ophthalmoplegia

Symptoms for Autosomal Dominant Progressive External Ophthalmoplegia

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Drugs & Therapeutics for Autosomal Dominant Progressive External Ophthalmoplegia

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Drugs for Autosomal Dominant Progressive External Ophthalmoplegia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2

Search NIH Clinical Center for Autosomal Dominant Progressive External Ophthalmoplegia

Genetic Tests for Autosomal Dominant Progressive External Ophthalmoplegia

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Genetic tests related to Autosomal Dominant Progressive External Ophthalmoplegia:

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia22 POLG

Anatomical Context for Autosomal Dominant Progressive External Ophthalmoplegia

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

33
Endothelial, Lung, Thyroid, Skin, Ovary, Eye

Animal Models for Autosomal Dominant Progressive External Ophthalmoplegia or affiliated genes

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MGI Mouse Phenotypes related to Autosomal Dominant Progressive External Ophthalmoplegia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.1OPA1, POLG, RRM2B, SLC25A4, TFAM
2MP:00053858.0C10orf2, OPA1, POLG, RRM2B, SLC25A4, TFAM
3MP:00053847.3C10orf2, DNA2, OPA1, POLG, POLG2, RRM2B

Publications for Autosomal Dominant Progressive External Ophthalmoplegia

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Articles related to Autosomal Dominant Progressive External Ophthalmoplegia:

(show all 22)
idTitleAuthorsYear
1
VERRUCOUS CARCINOMA OF THE ESOPHAGUS INVOLVING THE ENTIRE ESOPHAGUS. (26734805)
2015
2
MAD2B contributes to podocyte injury of diabetic nephropathy via inducing cyclin B1 and Skp2 accumulation. (25651564)
2015
3
A study of the frequency of methylation of gene promoter regions in colorectal cancer in the Taiwanese population. (23640413)
2013
4
Long term health-related quality of life after burns is strongly dependent on pre-existing disease and psychosocial issues and less due to the burn itself. (23318216)
2013
5
Comparison of four treatments to suppress ovarian activity in ferrets (Mustela putorius furo). (20081178)
2010
6
Management of acute cervical compression fractures in two patients with osteogenesis imperfecta. (20881659)
2010
7
Rapid changes in shear stress induce dissociation of a G alpha(q/11)-platelet endothelial cell adhesion molecule-1 complex. (19332487)
2009
8
Methotrexate, vinblastine, doxorubicin and cisplatin combination regimen as salvage chemotherapy for patients with advanced or metastatic transitional cell carcinoma after failure of gemcitabine and cisplatin chemotherapy. (18087289)
2008
9
The loss of entropy circadian rhythm in sinusal R-R intervals of type 1 diabetic pregnant women suggests an indeterministic chaos in cardiac pacing (minimum delirium cordis syndrome). A newly identifiable type of silent cardiac dysautonomia? (17608100)
2007
10
Neuromuscular disease in young snowshoe cats. (17293582)
2007
11
Differential expression of 16 genes coding for cell cycle- and apoptosis-related proteins in vitamin D-induced differentiation of HL-60 cells. (18199990)
2007
12
Validity of self-assessment of skin reaction after smallpox vaccination. (16416697)
2006
13
Essential role of p53 phosphorylation by p38 MAPK in apoptosis induction by the HIV-1 envelope. (15642743)
2005
14
Adiponectin is independently associated with insulin sensitivity in women with polycystic ovary syndrome. (15579189)
2004
15
Antiangiogenic effect of somatostatin receptor subtype 2 on pancreatic cancer cell line: Inhibition of vascular endothelial growth factor and matrix metalloproteinase-2 expression in vitro. (14760765)
2004
16
Thyroid hormone affects embryonic mouse lung branching morphogenesis and cellular differentiation. (11839528)
2002
17
Cataract surgery in patients with retinal disease. (11807384)
2002
18
Xenopus adenine nucleotide translocase mRNA exhibits specific and dynamic patterns of expression during development. (11310558)
2001
19
I/D polymorphism of the angiotensin-converting enzyme gene does not predict isolated systolic or systolic-diastolic hypertension in the elderly. (8733034)
1996
20
Transcriptional competition and homeosis in Drosophila. (8935992)
1996
21
Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6. (3777023)
1986
22
Sister chromatid exchange in dyskeratosis congenita lymphocytes. (926136)
1977

Variations for Autosomal Dominant Progressive External Ophthalmoplegia

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Expression for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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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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GO Terms for genes affiliated with Autosomal Dominant Progressive External Ophthalmoplegia

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.3POLG, POLG2, POLRMT

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1transcription from mitochondrial promoterGO:000639010.1C10orf2, POLRMT
2nucleobase-containing small molecule metabolic processGO:00550869.9RRM1, RRM2B
3nucleic acid phosphodiester bond hydrolysisGO:00903059.8DNA2, POLG
4mitochondrial DNA replicationGO:00062649.8DNA2, POLG, RRM2B
5mitochondrion organizationGO:00070059.6OPA1, TFAM
6organelle organizationGO:00069968.8C10orf2, POLG2, POLRMT, TFAM
7DNA replicationGO:00062608.7C10orf2, DNA2, POLG, POLG2, RRM1

Sources for Autosomal Dominant Progressive External Ophthalmoplegia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet