MCID: PRG039
MIFTS: 33

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

Category: Genetic diseases (common)

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 50 23
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 68 25 66
Peoa3 23 68
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 12
Progressive External Ophthalmoplegia Autosomal Dominant 3 68
 
Chronic Progressive External Ophthalmoplegia 68
Ocular Myopathy of Von Graefe-Fuchs 68
Mitochondrial Ocular Myopathy 68
Graefe Disease 68
Cpeo 68

Characteristics:

HPO:

62
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, progressive


Classifications:



External Ids:

OMIM50 609286
MedGen35 C1836439
MeSH37 D017246

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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OMIM:50 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 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome, 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:68 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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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 36)
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 ptosis HP:0000508
13 progressive external ophthalmoplegia HP:0000590
14 depression HP:0000716
15 dementia HP:0000726
16 global developmental delay HP:0001263
17 hyporeflexia HP:0001265
18 areflexia HP:0001284
19 gait disturbance HP:0001288
20 parkinsonism HP:0001300
21 dysphonia HP:0001618
22 dysphagia HP:0002015
23 cerebral atrophy HP:0002059
24 increased serum lactate HP:0002151
25 ragged-red muscle fibers HP:0003200
26 progressive muscle weakness HP:0003323
27 myalgia HP:0003326
28 emg HP:0003458
29 exercise intolerance HP:0003546
30 subsarcolemmal accumulations of abnormally shaped mitochondria HP:0003548
31 decreased activity of cytochrome c oxidase in muscle tissue HP:0003688
32 multiple mitochondrial dna deletions HP:0003689
33 limb muscle weakness HP:0003690
34 proximal muscle weakness HP:0003701
35 sensory ataxia HP:0010871
36 fatigue HP:0012378

UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:


fatigue, myalgia, ataxia, sensory

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
CysteaminePhase 2, Phase 32660-23-16058
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]
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
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

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 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 325
2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 323 C10orf2

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:

34
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:

68 (show all 29)
id Symbol AA change Variation ID SNP ID
1C10orf2p.Arg303TrpVAR_023647
2C10orf2p.Trp315LeuVAR_023648rs111033575
3C10orf2p.Lys319GluVAR_023649rs80356543
4C10orf2p.Lys319ThrVAR_023650
5C10orf2p.Pro335LeuVAR_023652
6C10orf2p.Arg354ProVAR_023653rs111033576
7C10orf2p.Ala359ThrVAR_023654rs111033573
8C10orf2p.Ile367ThrVAR_023655
9C10orf2p.Ser369ProVAR_023657
10C10orf2p.Ser369TyrVAR_023658rs111033579
11C10orf2p.Arg374GlnVAR_023659
12C10orf2p.Leu381ProVAR_023660rs111033577
13C10orf2p.Trp474CysVAR_023661rs111033574
14C10orf2p.Ala475ProVAR_023662rs111033572
15C10orf2p.Arg303GlnVAR_065102rs137852956
16C10orf2p.Trp315SerVAR_065103
17C10orf2p.Arg334ProVAR_065105
18C10orf2p.Arg357ProVAR_065106
19C10orf2p.Ala362ProVAR_065108
20C10orf2p.Trp363LeuVAR_065109
21C10orf2p.Phe370CysVAR_065110
22C10orf2p.Phe370LeuVAR_065111
23C10orf2p.Ser426AsnVAR_065112
24C10orf2p.Gln458HisVAR_065113
25C10orf2p.Ala460ProVAR_065114
26C10orf2p.Trp474SerVAR_065115
27C10orf2p.Ala475AspVAR_065116
28C10orf2p.Phe478IleVAR_065117
29C10orf2p.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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet