PEOA3
MCID: PRG039
MIFTS: 45

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 (PEOA3)

Categories: Bone diseases, Cardiovascular diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

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

MalaCards integrated aliases for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 56
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 12 29 6 15
Peoa3 56 12 73
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 73 71
Chronic Progressive External Ophthalmoplegia 73 71
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 3 39
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 13
Progressive External Ophthalmoplegia, Autosomal Dominant 3 56
Autosomal Dominant Progressive External Ophthalmoplegia 3 12
Progressive External Ophthalmoplegia Autosomal Dominant 3 73
Ocular Myopathy of Von Graefe-Fuchs 73
Mitochondrial Ocular Myopathy 73
Kearns-Sayre Syndrome 71
Graefe Disease 73
Cpeo 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
progressive disorder
adult onset (20 to 40 years)
early onset has rarely been reported
highly variable organ involvement and severity
c10orf2 mutations account for approximately 35% of all peo cases


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 56 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). PEO caused by mutations in the POLG gene (174763) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (103220) or C10ORF2 genes (Lamantea et al., 2002). (609286)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, also known as autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 3, is related to kearns-sayre syndrome and sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, and has symptoms including seizures, muscle weakness and fatigue. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 is TWNK (Twinkle MtDNA Helicase). The drugs Coenzyme Q10 and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include eye, skeletal muscle and thyroid, and related phenotypes are cataract and premature ovarian insufficiency

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in heterozygous mutation in TWNK on chromosome 10q24.31.

UniProtKB/Swiss-Prot : 73 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...

Diseases in the Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 family:

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 3
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5

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

(show top 50) (show all 134)
# Related Disease Score Top Affiliating Genes
1 kearns-sayre syndrome 33.0 TWNK APTX
2 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 31.1 TWNK SACS ATCAY APTX
3 polyneuropathy 29.6 TWNK ABHD12
4 spastic paraplegia 7, autosomal recessive 29.4 SACS APTX
5 peripheral nervous system disease 29.2 TWNK SACS APTX
6 cerebellar disease 29.0 SACS ATCAY APTX
7 chronic progressive external ophthalmoplegia 13.1
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 12.4
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 12.4
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 12.4
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 12.2
12 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 12.2
13 ocular muscular dystrophy 11.9
14 mitochondrial dna-related progressive external ophthalmoplegia 11.9
15 strabismus 11.7
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.4
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.4
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.4
19 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.4
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.4
21 ptosis 10.8
22 myopathy 10.8
23 mitochondrial myopathy 10.7
24 mitochondrial disorders 10.6
25 mitochondrial metabolism disease 10.5
26 mitochondrial encephalomyopathy 10.5
27 dysphagia 10.5
28 mechanical strabismus 10.4
29 branchiootic syndrome 1 10.4
30 neuropathy 10.4
31 optic nerve disease 10.3
32 lactic acidosis 10.3
33 myasthenia gravis 10.3
34 retinitis pigmentosa 10.3
35 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
36 neuroretinitis 10.3
37 alternating exotropia 10.3
38 exotropia 10.3
39 retinitis 10.3
40 encephalopathy 10.3
41 hereditary optic neuropathy 10.3
42 3-methylglutaconic aciduria, type iii 10.2
43 ataxia and polyneuropathy, adult-onset 10.2
44 lagophthalmos 10.2
45 keratitis, hereditary 10.1
46 optic atrophy 1 10.1
47 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.1
48 atrioventricular block 10.1
49 sensorineural hearing loss 10.1
50 movement disease 10.1

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...

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

31 (show all 37)
# Description HPO Frequency HPO Source Accession
1 cataract 31 occasional (7.5%) HP:0000518
2 premature ovarian insufficiency 31 occasional (7.5%) HP:0008209
3 diabetes mellitus 31 occasional (7.5%) HP:0000819
4 dysarthria 31 occasional (7.5%) HP:0001260
5 abnormality of the thyroid gland 31 occasional (7.5%) HP:0000820
6 cardiomyopathy 31 occasional (7.5%) HP:0001638
7 hypogonadism 31 occasional (7.5%) HP:0000135
8 progressive hearing impairment 31 occasional (7.5%) HP:0001730
9 sensory axonal neuropathy 31 occasional (7.5%) HP:0003390
10 bradycardia 31 occasional (7.5%) HP:0001662
11 seizure 31 occasional (7.5%) HP:0001250
12 parkinsonism 31 very rare (1%) HP:0001300
13 global developmental delay 31 HP:0001263
14 fatigue 31 HP:0012378
15 gait disturbance 31 HP:0001288
16 dysphagia 31 HP:0002015
17 myalgia 31 HP:0003326
18 ptosis 31 HP:0000508
19 depressivity 31 HP:0000716
20 emg: myopathic abnormalities 31 HP:0003458
21 progressive external ophthalmoplegia 31 HP:0000590
22 ragged-red muscle fibers 31 HP:0003200
23 areflexia 31 HP:0001284
24 increased serum lactate 31 HP:0002151
25 dysphonia 31 HP:0001618
26 hyporeflexia 31 HP:0001265
27 cerebral atrophy 31 HP:0002059
28 dementia 31 HP:0000726
29 proximal muscle weakness 31 HP:0003701
30 progressive muscle weakness 31 HP:0003323
31 limb muscle weakness 31 HP:0003690
32 exercise intolerance 31 HP:0003546
33 sensory ataxia 31 HP:0010871
34 psychomotor retardation 31 HP:0025356
35 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
36 subsarcolemmal accumulations of abnormally shaped mitochondria 31 HP:0003548
37 multiple mitochondrial dna deletions 31 HP:0003689

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
fatigue
proximal muscle weakness
limb muscle weakness
exercise intolerance
muscle pain
more
Laboratory Abnormalities:
increased serum lactate

Neurologic Behavioral Psychiatric Manifestations:
depression
avoidant personality

Head And Neck Ears:
hearing loss, progressive (in some)

Abdomen Gastrointestinal:
dysphagia, late-onset

Endocrine Features:
diabetes mellitus (less common)
premature ovarian failure (less common)
hypogonadism (less common)
thyroid disease (less common)

Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)
cataracts (less common)

Neurologic Central Nervous System:
cerebral atrophy
psychomotor retardation
ataxia, sensory
seizures (uncommon)
parkinsonism has been described in 1 family
more
Neurologic Peripheral Nervous System:
hypo- or areflexia
axonal sensory neuropathy (less common)

Cardiovascular Heart:
bradycardia (less common)
arrhythmias (less common)
cardiomyopathy (less common)

Voice:
dysphonia, late-onset

Clinical features from OMIM:

609286

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


seizures, muscle weakness, fatigue, myalgia, ophthalmoplegia, cerebellar ataxia, ataxia, sensory

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

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coenzyme Q10 Approved, Investigational, Nutraceutical 303-98-0 5281915
2 Ubiquinone

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase Ia/Ib, Multiple-site Study to Assess the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of KL1333 After a Single and Multiple Ascending Oral Doses in Healthy Subjects and Patients With Primary Mitochondrial Disease Recruiting NCT03888716 Phase 1 KL1333;Placebo Oral Tablet
2 Clinical Characteristics and Prognostic Factors of Mitochondrial nt3243 A>G Mutation in Taiwan Unknown status NCT02114554
3 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
4 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
5 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
6 Can Metagenomic and Metadata be Combined Using Bioinformatics and Computational Biology Methods to Personalise Patient Treatment. Completed NCT03213067
7 North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) Recruiting NCT01694940
8 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
9 Rare Disease Clinical Research Network Natural History of Pearson Syndrome North American Mitochondrial Disease Consortium (NAMDC) Enrolling by invitation NCT02327364

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

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

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

# Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 29 TWNK

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

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

40
Eye, Skeletal Muscle, Thyroid, Retina

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

(show all 17)
# Title Authors PMID Year
1
A novel variation in the Twinkle linker region causing late-onset dementia. 56 6
19513767 2010
2
Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease. 6 56
19353676 2009
3
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 56 6
15668446 2005
4
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. 56 6
11431692 2001
5
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. 56 6
10522883 1999
6
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. 6 56
1634620 1992
7
Mitochondrial DNA Maintenance Defects Overview 6
29517884 2018
8
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. 6
20659899 2010
9
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 56
20479361 2010
10
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. 56
17620490 2007
11
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. 56
16301523 2005
12
Clinical and molecular features of adPEO due to mutations in the Twinkle gene. 6
12163192 2002
13
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 56
12210792 2002
14
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. 56
11756592 2001
15
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. 56
9153451 1997
16
An autosomal locus predisposing to deletions of mitochondrial DNA. 56
7719341 1995
17
Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report. 61
32234020 2020

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

6 (show top 50) (show all 81) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWNK TWNK, 39-BP DUPduplication Pathogenic 4616
2 TWNK NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro)SNV Pathogenic 4617 rs111033572 10:102749580-102749580 10:100989823-100989823
3 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr)SNV Pathogenic 4618 rs111033573 10:102749042-102749042 10:100989285-100989285
4 TWNK NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter)SNV Pathogenic 4619 rs111033574 10:102749579-102749579 10:100989822-100989822
5 TWNK NM_021830.5(TWNK):c.944G>T (p.Trp315Leu)SNV Pathogenic 4620 rs111033575 10:102748911-102748911 10:100989154-100989154
6 TWNK NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro)SNV Pathogenic 4621 rs111033576 10:102749028-102749028 10:100989271-100989271
7 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro)SNV Pathogenic 4622 rs111033577 10:102749109-102749109 10:100989352-100989352
8 TWNK NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)SNV Pathogenic 4624 rs111033579 10:102749073-102749073 10:100989316-100989316
9 TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu)SNV Pathogenic 4625 rs80356543 10:102748922-102748922 10:100989165-100989165
10 TWNK NM_021830.5(TWNK):c.908G>A (p.Arg303Gln)SNV Pathogenic 4628 rs137852956 10:102748875-102748875 10:100989118-100989118
11 TWNK NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)SNV Likely pathogenic 4629 rs267606682 10:102749087-102749087 10:100989330-100989330
12 TWNK NM_021830.5(TWNK):c.639C>T (p.Gly213=)SNV Conflicting interpretations of pathogenicity 136587 rs11542130 10:102748606-102748606 10:100988849-100988849
13 TWNK NM_021830.5(TWNK):c.56G>A (p.Gly19Glu)SNV Conflicting interpretations of pathogenicity 426493 rs767175342 10:102748023-102748023 10:100988266-100988266
14 TWNK NM_021830.5(TWNK):c.1244-14C>TSNV Conflicting interpretations of pathogenicity 507889 rs758757135 10:102749387-102749387 10:100989630-100989630
15 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)SNV Conflicting interpretations of pathogenicity 632124 rs758026634 10:102749037-102749037 10:100989280-100989280
16 TWNK NM_021830.5(TWNK):c.1953G>A (p.Lys651=)SNV Conflicting interpretations of pathogenicity 878401 10:102753165-102753165 10:100993408-100993408
17 TWNK NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser)SNV Conflicting interpretations of pathogenicity 214185 rs863223921 10:102749163-102749163 10:100989406-100989406
18 TWNK NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)SNV Conflicting interpretations of pathogenicity 214177 rs116046810 10:102750730-102750730 10:100990973-100990973
19 TWNK NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr)SNV Conflicting interpretations of pathogenicity 214178 rs370814108 10:102753187-102753187 10:100993430-100993430
20 TWNK NM_021830.5(TWNK):c.2045G>A (p.Arg682His)SNV Conflicting interpretations of pathogenicity 214180 rs182559752 10:102753257-102753257 10:100993500-100993500
21 TWNK NM_021830.5(TWNK):c.241C>G (p.Leu81Val)SNV Conflicting interpretations of pathogenicity 279715 rs145068570 10:102748208-102748208 10:100988451-100988451
22 TWNK NM_021830.5(TWNK):c.384C>T (p.Ser128=)SNV Conflicting interpretations of pathogenicity 281415 rs148234280 10:102748351-102748351 10:100988594-100988594
23 TWNK NM_021830.5(TWNK):c.-650A>GSNV Conflicting interpretations of pathogenicity 298484 rs187213541 10:102747318-102747318 10:100987561-100987561
24 TWNK NM_021830.5(TWNK):c.672T>C (p.Ala224=)SNV Conflicting interpretations of pathogenicity 878844 10:102748639-102748639 10:100988882-100988882
25 TWNK NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg)SNV Conflicting interpretations of pathogenicity 298500 rs62626271 10:102749009-102749009 10:100989252-100989252
26 TWNK NM_021830.5(TWNK):c.1488T>C (p.Thr496=)SNV Conflicting interpretations of pathogenicity 298502 rs549767223 10:102750196-102750196 10:100990439-100990439
27 TWNK NM_021830.5(TWNK):c.1735-14C>ASNV Conflicting interpretations of pathogenicity 136594 rs201795189 10:102752933-102752933 10:100993176-100993176
28 TWNK NM_021830.5(TWNK):c.-290G>CSNV Conflicting interpretations of pathogenicity 298491 rs62626270 10:102747678-102747678 10:100987921-100987921
29 TWNK NM_021830.5(TWNK):c.*301C>TSNV Conflicting interpretations of pathogenicity 298507 rs41291468 10:102753568-102753568 10:100993811-100993811
30 TWNK NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)SNV Conflicting interpretations of pathogenicity 298494 rs577209883 10:102748043-102748043 10:100988286-100988286
31 TWNK NM_021830.5(TWNK):c.492C>T (p.Leu164=)SNV Conflicting interpretations of pathogenicity 298498 rs775463083 10:102748459-102748459 10:100988702-100988702
32 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=)SNV Conflicting interpretations of pathogenicity 298499 rs754389465 10:102748889-102748889 10:100989132-100989132
33 TWNK NM_021830.5(TWNK):c.1101C>T (p.Ile367=)SNV Conflicting interpretations of pathogenicity 298501 rs200798080 10:102749068-102749068 10:100989311-100989311
34 TWNK NM_021830.5(TWNK):c.*419A>TSNV Conflicting interpretations of pathogenicity 298509 rs187553791 10:102753686-102753686 10:100993929-100993929
35 TWNK NM_021830.5(TWNK):c.1609T>C (p.Tyr537His)SNV Conflicting interpretations of pathogenicity 383137 rs144001072 10:102750642-102750642 10:100990885-100990885
36 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu)SNV Uncertain significance 298504 rs886046632 10:102753065-102753065 10:100993308-100993308
37 TWNK NM_021830.5(TWNK):c.*574C>TSNV Uncertain significance 298515 rs886046636 10:102753841-102753841 10:100994084-100994084
38 TWNK NM_021830.5(TWNK):c.*619G>ASNV Uncertain significance 298516 rs886046637 10:102753886-102753886 10:100994129-100994129
39 TWNK NM_021830.5(TWNK):c.*709C>GSNV Uncertain significance 298517 rs41291470 10:102753976-102753976 10:100994219-100994219
40 TWNK NM_021830.5(TWNK):c.*747C>GSNV Uncertain significance 298518 rs886046638 10:102754014-102754014 10:100994257-100994257
41 TWNK NM_021830.5(TWNK):c.*763T>CSNV Uncertain significance 298519 rs886046639 10:102754030-102754030 10:100994273-100994273
42 TWNK NM_021830.5(TWNK):c.-585T>GSNV Uncertain significance 298486 rs886046624 10:102747383-102747383 10:100987626-100987626
43 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val)SNV Uncertain significance 298495 rs772221026 10:102748044-102748044 10:100988287-100988287
44 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=)SNV Uncertain significance 298497 rs886046631 10:102748243-102748243 10:100988486-100988486
45 TWNK NM_021830.5(TWNK):c.-644A>TSNV Uncertain significance 298485 rs886046623 10:102747324-102747324 10:100987567-100987567
46 TWNK NM_021830.5(TWNK):c.*438G>CSNV Uncertain significance 298510 rs886046634 10:102753705-102753705 10:100993948-100993948
47 TWNK NM_021830.5(TWNK):c.-549G>ASNV Uncertain significance 298487 rs886046625 10:102747419-102747419 10:100987662-100987662
48 TWNK NM_021830.5(TWNK):c.-470G>ASNV Uncertain significance 298488 rs886046626 10:102747498-102747498 10:100987741-100987741
49 TWNK NM_021830.5(TWNK):c.*555G>ASNV Uncertain significance 298514 rs886046635 10:102753822-102753822 10:100994065-100994065
50 TWNK NM_021830.5(TWNK):c.*234T>GSNV Uncertain significance 298506 rs886046633 10:102753501-102753501 10:100993744-100993744

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

73 (show all 29)
# Symbol AA change Variation ID SNP ID
1 TWNK p.Arg303Trp VAR_023647 rs115992926
2 TWNK p.Trp315Leu VAR_023648 rs111033575
3 TWNK p.Lys319Glu VAR_023649 rs80356543
4 TWNK p.Lys319Thr VAR_023650
5 TWNK p.Pro335Leu VAR_023652
6 TWNK p.Arg354Pro VAR_023653 rs111033576
7 TWNK p.Ala359Thr VAR_023654 rs111033573
8 TWNK p.Ile367Thr VAR_023655
9 TWNK p.Ser369Pro VAR_023657
10 TWNK p.Ser369Tyr VAR_023658 rs111033579
11 TWNK p.Arg374Gln VAR_023659 rs155488709
12 TWNK p.Leu381Pro VAR_023660 rs111033577
13 TWNK p.Trp474Cys VAR_023661 rs111033574
14 TWNK p.Ala475Pro VAR_023662 rs111033572
15 TWNK p.Arg303Gln VAR_065102 rs137852956
16 TWNK p.Trp315Ser VAR_065103
17 TWNK p.Arg334Pro VAR_065105
18 TWNK p.Arg357Pro VAR_065106 rs758026634
19 TWNK p.Ala362Pro VAR_065108 rs155488707
20 TWNK p.Trp363Leu VAR_065109
21 TWNK p.Phe370Cys VAR_065110
22 TWNK p.Phe370Leu VAR_065111 rs863223920
23 TWNK p.Ser426Asn VAR_065112
24 TWNK p.Gln458His VAR_065113 rs155488721
25 TWNK p.Ala460Pro VAR_065114
26 TWNK p.Trp474Ser VAR_065115 rs11542127
27 TWNK p.Ala475Asp VAR_065116
28 TWNK p.Phe478Ile VAR_065117
29 TWNK p.Glu479Lys VAR_065118 rs108530793

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

Molecular functions related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 H1-1 APTX
2 single-stranded DNA binding GO:0003697 8.62 TWNK APTX

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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