MCID: PRG039
MIFTS: 34

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 52 24
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 70 27 68
Chronic Progressive External Ophthalmoplegia 70 68
Peoa3 24 70
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 12
Progressive External Ophthalmoplegia Autosomal Dominant 3 70
 
Ocular Myopathy of Von Graefe-Fuchs 70
Mitochondrial Ocular Myopathy 70
Kearns-Sayre Syndrome 68
Graefe Disease 70
Cpeo 70

Characteristics:

HPO:

64
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3:
Inheritance: autosomal dominant inheritance
Onset and clinical course: adult onset, progressive

Classifications:



External Ids:

OMIM52 609286
MedGen37 C1836439
MeSH39 D017246

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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OMIM:52 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 TWNK (Twinkle MtDNA Helicase). Affiliated tissues include eye, skeletal muscle and thyroid.

UniProtKB/Swiss-Prot:70 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 & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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Symptoms by clinical synopsis from OMIM:

609286

Clinical features from OMIM:

609286

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

 64 (show all 36)
id Description HPO Frequency HPO Source Accession
1 hypogonadism64 rare (5%) HP:0000135
2 cataract64 rare (5%) HP:0000518
3 diabetes mellitus64 rare (5%) HP:0000819
4 abnormality of the thyroid gland64 rare (5%) HP:0000820
5 seizures64 rare (5%) HP:0001250
6 dysarthria64 rare (5%) HP:0001260
7 cardiomyopathy64 rare (5%) HP:0001638
8 bradycardia64 rare (5%) HP:0001662
9 progressive hearing impairment64 rare (5%) HP:0001730
10 sensory axonal neuropathy64 rare (5%) HP:0003390
11 premature ovarian failure64 rare (5%) HP:0008209
12 ptosis64 HP:0000508
13 progressive external ophthalmoplegia64 HP:0000590
14 depression64 HP:0000716
15 dementia64 HP:0000726
16 global developmental delay64 HP:0001263
17 hyporeflexia64 HP:0001265
18 areflexia64 HP:0001284
19 gait disturbance64 HP:0001288
20 parkinsonism64 HP:0001300
21 dysphonia64 HP:0001618
22 dysphagia64 HP:0002015
23 cerebral atrophy64 HP:0002059
24 increased serum lactate64 HP:0002151
25 ragged-red muscle fibers64 HP:0003200
26 progressive muscle weakness64 HP:0003323
27 myalgia64 HP:0003326
28 emg64 HP:0003458
29 exercise intolerance64 HP:0003546
30 subsarcolemmal accumulations of abnormally shaped mitochondria64 HP:0003548
31 decreased activity of cytochrome c oxidase in muscle tissue64 HP:0003688
32 multiple mitochondrial dna deletions64 HP:0003689
33 limb muscle weakness64 HP:0003690
34 proximal muscle weakness64 HP:0003701
35 sensory ataxia64 HP:0010871
36 fatigue64 HP:0012378

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


cerebellar ataxia, ophthalmoplegia, seizures, photopsia, muscle weakness, sudden visual loss, metamorphopsia, blurred vision, congenital visual acuity reduced, photophobia, lid lag, scotoma, scintillating, ocular signs and symptoms nec, excessive eye blinking, 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
Cysteamineapproved, investigationalPhase 2, Phase 32760-23-16058
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 327
2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 324 TWNK

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:

36
Eye, Skeletal muscle, Thyroid

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:

70 (show all 29)
id Symbol AA change Variation ID SNP ID
1TWNKp.Arg303TrpVAR_023647
2TWNKp.Trp315LeuVAR_023648rs111033575
3TWNKp.Lys319GluVAR_023649rs80356543
4TWNKp.Lys319ThrVAR_023650
5TWNKp.Pro335LeuVAR_023652
6TWNKp.Arg354ProVAR_023653rs111033576
7TWNKp.Ala359ThrVAR_023654rs111033573
8TWNKp.Ile367ThrVAR_023655
9TWNKp.Ser369ProVAR_023657
10TWNKp.Ser369TyrVAR_023658rs111033579
11TWNKp.Arg374GlnVAR_023659
12TWNKp.Leu381ProVAR_023660rs111033577
13TWNKp.Trp474CysVAR_023661rs111033574
14TWNKp.Ala475ProVAR_023662rs111033572
15TWNKp.Arg303GlnVAR_065102rs137852956
16TWNKp.Trp315SerVAR_065103
17TWNKp.Arg334ProVAR_065105
18TWNKp.Arg357ProVAR_065106
19TWNKp.Ala362ProVAR_065108
20TWNKp.Trp363LeuVAR_065109
21TWNKp.Phe370CysVAR_065110
22TWNKp.Phe370LeuVAR_065111rs863223920
23TWNKp.Ser426AsnVAR_065112
24TWNKp.Gln458HisVAR_065113
25TWNKp.Ala460ProVAR_065114
26TWNKp.Trp474SerVAR_065115rs11542127
27TWNKp.Ala475AspVAR_065116
28TWNKp.Phe478IleVAR_065117
29TWNKp.Glu479LysVAR_065118

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1TWNKC10ORF2, 39-BP DUPduplicationPathogenicChr na, -1: -1
2TWNKNM_021830.4(TWNK): c.1423G> C (p.Ala475Pro)SNVPathogenicrs111033572GRCh37Chr 10, 102749580: 102749580
3TWNKNM_021830.4(TWNK): c.1075G> A (p.Ala359Thr)SNVPathogenicrs111033573GRCh37Chr 10, 102749042: 102749042
4TWNKNM_021830.4(TWNK): c.1422G> A (p.Trp474Ter)SNVPathogenicrs111033574GRCh37Chr 10, 102749579: 102749579
5TWNKNM_021830.4(TWNK): c.944G> T (p.Trp315Leu)SNVPathogenicrs111033575GRCh37Chr 10, 102748911: 102748911
6TWNKNM_021830.4(TWNK): c.1061G> C (p.Arg354Pro)SNVPathogenicrs111033576GRCh37Chr 10, 102749028: 102749028
7TWNKNM_021830.4(TWNK): c.1142T> C (p.Leu381Pro)SNVPathogenicrs111033577GRCh37Chr 10, 102749109: 102749109
8TWNKNM_021830.4(TWNK): c.1106C> A (p.Ser369Tyr)SNVPathogenicrs111033579GRCh37Chr 10, 102749073: 102749073
9TWNKNM_021830.4(TWNK): c.955A> G (p.Lys319Glu)SNVPathogenicrs80356543GRCh37Chr 10, 102748922: 102748922
10TWNKNM_021830.4(TWNK): c.908G> A (p.Arg303Gln)SNVPathogenicrs137852956GRCh37Chr 10, 102748875: 102748875
11TWNKNM_021830.4(TWNK): c.1120C> T (p.Arg374Trp)SNVPathogenicrs267606682GRCh37Chr 10, 102749087: 102749087
12MT-TL1m.3249G> ASNVPathogenicrs199474667GRCh37Chr MT, 3249: 3249

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet