MCID: PRG039
MIFTS: 36

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 malady

Genetic diseases (common) category

Aliases & Classifications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Aliases & Descriptions for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 49 22 24
Peoa3 22 67
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 67
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 11
Progressive External Ophthalmoplegia Autosomal Dominant 3 67
 
Chronic Progressive External Ophthalmoplegia 67
Ocular Myopathy of Von Graefe-Fuchs 67
Mitochondrial Ocular Myopathy 67
Graefe Disease 67
Cpeo 67


Classifications:



External Ids:

OMIM49 609286
MedGen34 C1836439
MeSH36 D017246

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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OMIM:49 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The... (609286) more...

MalaCards based summary: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, also known as peoa3, is related to chronic progressive external ophthalmoplegia and ophthalmoplegia, and has symptoms including hypogonadism, cataract and diabetes mellitus. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 is C10orf2 (Chromosome 10 Open Reading Frame 2). Affiliated tissues include eye, skeletal muscle and thyroid.

UniProtKB/Swiss-Prot:67 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.

Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1chronic progressive external ophthalmoplegia11.3
2ophthalmoplegia11.3
3myopathy10.7
4kearns-sayre syndrome10.7
5ptosis10.6
6neuropathy10.5
7strabismus10.5
8adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy10.5
9ocular muscular dystrophy10.4
10maternally-inherited progressive external ophthalmoplegia10.4
11progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 210.3
12progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 410.3
13progressive external ophthalmoplegia, autosomal recessive 110.3
14keratopathy10.3
15motor neuron disease10.3
16muscle disorders10.3
17foster-kennedy syndrome10.3
18pharyngitis10.3
19sensorineural hearing loss10.3
20exophthalmos10.3
21neuronitis10.3
22third-degree atrioventricular block10.3
23spiradenoma10.3
24atrioventricular block10.3
25cranial nerve disease10.3
26cranial nerve palsy10.3
27esophagitis10.3
28eye disease10.3
29globe disease10.3
30mitochondrial metabolism disease10.3
31muscle tissue disease10.3
32myopathy of extraocular muscle10.3
33neuromuscular disease10.3
34ocular motility disease10.3
35optic nerve disease10.3
36retinitis10.3
37neurologic diseases10.3
38mitochondrial disorders10.3
39motor neuro-ophthalmic disorders10.3
40ataxia10.3
41encephalopathy10.3
42progressive external ophthalmoplegia, autosomal dominant 110.1
43melas syndrome10.0
44esotropia10.0
45exotropia10.0

Graphical network of the top 20 diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:



Diseases related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3

Symptoms for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Symptoms by clinical synopsis from OMIM:

609286

Clinical features from OMIM:

609286

HPO human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

(show all 39)
id Description Frequency HPO Source Accession
1 hypogonadism rare (5%) HP:0000135
2 cataract rare (5%) HP:0000518
3 diabetes mellitus rare (5%) HP:0000819
4 abnormality of the thyroid gland rare (5%) HP:0000820
5 seizures rare (5%) HP:0001250
6 dysarthria rare (5%) HP:0001260
7 cardiomyopathy rare (5%) HP:0001638
8 bradycardia rare (5%) HP:0001662
9 progressive hearing impairment rare (5%) HP:0001730
10 sensory axonal neuropathy rare (5%) HP:0003390
11 premature ovarian failure rare (5%) HP:0008209
12 autosomal dominant inheritance HP:0000006
13 ptosis HP:0000508
14 progressive external ophthalmoplegia HP:0000590
15 depression HP:0000716
16 dementia HP:0000726
17 global developmental delay HP:0001263
18 hyporeflexia HP:0001265
19 areflexia HP:0001284
20 gait disturbance HP:0001288
21 parkinsonism HP:0001300
22 dysphonia HP:0001618
23 dysphagia HP:0002015
24 cerebral atrophy HP:0002059
25 increased serum lactate HP:0002151
26 ragged-red muscle fibers HP:0003200
27 progressive muscle weakness HP:0003323
28 myalgia HP:0003326
29 emg HP:0003458
30 exercise intolerance HP:0003546
31 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
32 adult onset HP:0003581
33 progressive HP:0003676
34 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
35 multiple mitochondrial dna deletions HP:0003689
36 limb muscle weakness HP:0003690
37 proximal muscle weakness HP:0003701
38 sensory ataxia HP:0010871
39 fatigue HP:0012378

Drugs & Therapeutics for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Drugs for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
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
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
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

Search NIH Clinical Center for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3

Genetic Tests for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

id Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 322 C10orf2
2 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 324

Anatomical Context for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

33
Eye, Skeletal muscle, Thyroid

Animal Models for Progressive External Ophthalmoplegia with Mitochondrial Dna... or affiliated genes

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Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

67 (show all 28)
id Symbol AA change Variation ID SNP ID
1C10orf2p.Arg303TrpVAR_023647
2C10orf2p.Trp315LeuVAR_023648
3C10orf2p.Lys319ThrVAR_023650
4C10orf2p.Pro335LeuVAR_023652
5C10orf2p.Arg354ProVAR_023653
6C10orf2p.Ala359ThrVAR_023654
7C10orf2p.Ile367ThrVAR_023655
8C10orf2p.Ser369ProVAR_023657
9C10orf2p.Ser369TyrVAR_023658
10C10orf2p.Arg374GlnVAR_023659
11C10orf2p.Leu381ProVAR_023660
12C10orf2p.Trp474CysVAR_023661
13C10orf2p.Ala475ProVAR_023662
14C10orf2p.Arg303GlnVAR_065102
15C10orf2p.Trp315SerVAR_065103
16C10orf2p.Arg334ProVAR_065105
17C10orf2p.Arg357ProVAR_065106
18C10orf2p.Ala362ProVAR_065108
19C10orf2p.Trp363LeuVAR_065109
20C10orf2p.Phe370CysVAR_065110
21C10orf2p.Phe370LeuVAR_065111
22C10orf2p.Ser426AsnVAR_065112
23C10orf2p.Gln458HisVAR_065113
24C10orf2p.Ala460ProVAR_065114
25C10orf2p.Trp474SerVAR_065115
26C10orf2p.Ala475AspVAR_065116
27C10orf2p.Phe478IleVAR_065117
28C10orf2p.Glu479LysVAR_065118

Clinvar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1C10orf2C10ORF2, 39-BP DUPduplicationPathogenic
2C10orf2NM_021830.4(C10orf2): c.1423G> C (p.Ala475Pro)single nucleotide variantPathogenicrs111033572GRCh37Chr 10, 102749580: 102749580
3C10orf2NM_021830.4(C10orf2): c.1075G> A (p.Ala359Thr)single nucleotide variantPathogenicrs111033573GRCh37Chr 10, 102749042: 102749042
4C10orf2NM_021830.4(C10orf2): c.1422G> A (p.Trp474Ter)single nucleotide variantPathogenicrs111033574GRCh37Chr 10, 102749579: 102749579
5C10orf2NM_021830.4(C10orf2): c.944G> T (p.Trp315Leu)single nucleotide variantPathogenicrs111033575GRCh37Chr 10, 102748911: 102748911
6C10orf2NM_021830.4(C10orf2): c.1061G> C (p.Arg354Pro)single nucleotide variantPathogenicrs111033576GRCh37Chr 10, 102749028: 102749028
7C10orf2NM_021830.4(C10orf2): c.1142T> C (p.Leu381Pro)single nucleotide variantPathogenicrs111033577GRCh37Chr 10, 102749109: 102749109
8C10orf2NM_021830.4(C10orf2): c.1106C> A (p.Ser369Tyr)single nucleotide variantPathogenicrs111033579GRCh37Chr 10, 102749073: 102749073
9C10orf2NM_021830.4(C10orf2): c.955A> G (p.Lys319Glu)single nucleotide variantPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922
10C10orf2NM_021830.4(C10orf2): c.908G> A (p.Arg303Gln)single nucleotide variantPathogenicrs137852956GRCh37Chr 10, 102748875: 102748875
11C10orf2NM_021830.4(C10orf2): c.1120C> T (p.Arg374Trp)single nucleotide variantPathogenicrs267606682GRCh37Chr 10, 102749087: 102749087

Expression for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3.

Pathways for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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GO Terms for genes affiliated with Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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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