PEOA3
MCID: PRG039
MIFTS: 43

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

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic 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 57
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 74 72
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 29 6
Chronic Progressive External Ophthalmoplegia 74 72
Peoa3 57 74
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 3 40
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 13
Progressive External Ophthalmoplegia, Autosomal Dominant 3 57
Progressive External Ophthalmoplegia Autosomal Dominant 3 74
Ocular Myopathy of Von Graefe-Fuchs 74
Mitochondrial Ocular Myopathy 74
Kearns-Sayre Syndrome 72
Graefe Disease 74
Cpeo 74

Characteristics:

OMIM:

57
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:

32
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3:
Inheritance autosomal dominant inheritance
Onset and clinical course progressive adult onset


Classifications:



External Ids:

MeSH 44 D017246
MedGen 42 C1836439
UMLS 72 C0022541 C0162674 C1836439

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 57 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 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 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 drug Ubiquinone has been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, eye and thyroid, and related phenotypes are diabetes mellitus and seizures

UniProtKB/Swiss-Prot : 74 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 Recessive 1 family:

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 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 123)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 13.1
2 kearns-sayre syndrome 12.4
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 12.1
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 12.1
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 12.1
6 ocular muscular dystrophy 11.9
7 mitochondrial dna-related progressive external ophthalmoplegia 11.9
8 strabismus 11.7
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.7
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.6
11 ptosis 10.8
12 myopathy 10.8
13 mitochondrial myopathy 10.7
14 mitochondrial disorders 10.6
15 mitochondrial metabolism disease 10.5
16 dysphagia 10.5
17 mitochondrial encephalomyopathy 10.4
18 mechanical strabismus 10.4
19 branchiootic syndrome 1 10.4
20 neuropathy 10.4
21 ataxia and polyneuropathy, adult-onset 10.3
22 optic nerve disease 10.3
23 lactic acidosis 10.3
24 myasthenia gravis 10.3
25 retinitis pigmentosa 10.3
26 aceruloplasminemia 10.3
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
28 neuroretinitis 10.3
29 alternating exotropia 10.3
30 exotropia 10.3
31 retinitis 10.3
32 encephalopathy 10.3
33 hereditary optic neuropathy 10.3
34 3-methylglutaconic aciduria, type iii 10.2
35 lagophthalmos 10.2
36 peripheral nervous system disease 10.2
37 keratitis, hereditary 10.1
38 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.1
39 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 10.1
40 atrioventricular block 10.1
41 sensorineural hearing loss 10.1
42 movement disease 10.1
43 exophthalmos 10.1
44 exposure keratitis 10.1
45 muscular dystrophy 10.1
46 myotonic dystrophy 10.1
47 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.1
48 myotonia atrophica 10.1
49 alzheimer disease 10.0
50 progressive familial heart block, type ia 10.0

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 & Phenotypes for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
ptosis
external ophthalmoplegia, progressive (peo)
cataracts (less common)

Laboratory Abnormalities:
increased serum lactate

Neurologic Behavioral Psychiatric Manifestations:
depression
avoidant personality

Head And Neck Ears:
progressive hearing loss (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)

Muscle Soft Tissue:
fatigue
proximal muscle weakness
exercise intolerance
limb muscle weakness
muscle pain
more
Neurologic Central Nervous System:
cerebral atrophy
ataxia, sensory
psychomotor retardation
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 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:

41
Skeletal Muscle, Eye, Thyroid, Retina, Brain, Heart, Skin

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

(show top 50) (show all 522)
# Title Authors PMID Year
1
A novel variation in the Twinkle linker region causing late-onset dementia. 38 8 71
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. 8 71
19353676 2009
3
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 8 71
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. 8 71
11431692 2001
5
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. 8 71
10522883 1999
6
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. 8 71
1634620 1992
7
Mitochondrial DNA Maintenance Defects Overview 71
29517884 2018
8
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. 71
21951382 2011
9
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. 71
21646632 2011
10
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. 71
20659899 2010
11
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 8
20479361 2010
12
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. 8
17620490 2007
13
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. 8
16301523 2005
14
Clinical and molecular features of adPEO due to mutations in the Twinkle gene. 71
12163192 2002
15
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 8
12210792 2002
16
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. 8
11756592 2001
17
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. 8
9153451 1997
18
An autosomal locus predisposing to deletions of mitochondrial DNA. 8
7719341 1995
19
A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. 38
31348995 2019
20
Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study. 38
31367202 2019
21
Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia. 38
30962064 2019
22
Optical coherence tomography findings in chronic progressive external ophthalmoplegia. 38
31140991 2019
23
Exophthalmos in Kearns-Sayre syndrome. 38
31158487 2019
24
Muscle pain in mitochondrial diseases: a picture from the Italian network. 38
30710167 2019
25
Late-onset presentation of POLG1-associated mitochondrial disease. 38
30936349 2019
26
[Mitochondrial diseases]. 38
30643957 2019
27
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. 38
30956829 2019
28
A rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy. 38
31263856 2019
29
Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases. 38
31344055 2019
30
Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia. 38
29582258 2019
31
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 38
29246868 2019
32
Teaching Video NeuroImages: MT-TL1 mutation presenting as chronic progressive external ophthalmoplegia. 38
30665919 2019
33
Ophthalmoplegia in Mitochondrial Disease. 38
30450853 2018
34
Ant1 mutant mice bridge the mitochondrial and serotonergic dysfunctions in bipolar disorder. 38
29892051 2018
35
Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient. 38
30340744 2018
36
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. 38
29333908 2018
37
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. 38
29300676 2018
38
[Diagnostic and Therapeutic Approaches for Mitochondrial Diseases]. 38
30248691 2018
39
Phenotypic and Genotypic Heterogeneity of RRM2B Variants. 38
29241262 2018
40
Progressive fat replacement of muscle contributes to the disease mechanism of patients with single, large-scale deletions of mitochondrial DNA. 38
29567350 2018
41
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant. 38
29398297 2018
42
[Mitochondrial Dysfunctions and Role of Coenzyme Q10 in Patients with Glaucoma]. 38
29448286 2018
43
Outcome of epilepsy in patients with mitochondrial disorders: Phenotype genotype and magnetic resonance imaging correlations. 38
29272804 2018
44
Mitochondrial Disorder: Kearns-Sayre Syndrome. 38
30578503 2018
45
Anesthetic management of a parturient with Kearns-Sayre syndrome, dual-chamber and VVI implantable defibrillator pacemaker/defibrillator, and preeclampsia for cesarean delivery: A case report and review of the literature. 38
29416473 2018
46
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. 38
29190634 2018
47
[Chronic Progressive External Ophthalmoplegia Ptosis: Problems with Diagnostics and Treatment]. 38
29373868 2018
48
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 38
29290614 2018
49
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. 38
29310369 2017
50
Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia. 38
29156062 2017

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 all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 TWNK TWNK, 39-BP DUP duplication Pathogenic
2 TWNK NM_021830.5(TWNK): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs111033572 10:102749580-102749580 10:100989823-100989823
3 TWNK NM_021830.5(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 10:102749042-102749042 10:100989285-100989285
4 TWNK NM_021830.5(TWNK): c.1422G> A (p.Trp474Ter) single nucleotide variant Pathogenic rs111033574 10:102749579-102749579 10:100989822-100989822
5 TWNK NM_021830.5(TWNK): c.944G> T (p.Trp315Leu) single nucleotide variant Pathogenic rs111033575 10:102748911-102748911 10:100989154-100989154
6 TWNK NM_021830.5(TWNK): c.1061G> C (p.Arg354Pro) single nucleotide variant Pathogenic rs111033576 10:102749028-102749028 10:100989271-100989271
7 TWNK NM_021830.5(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 10:102749109-102749109 10:100989352-100989352
8 TWNK NM_021830.5(TWNK): c.1106C> A (p.Ser369Tyr) single nucleotide variant Pathogenic rs111033579 10:102749073-102749073 10:100989316-100989316
9 TWNK NM_021830.5(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 10:102748922-102748922 10:100989165-100989165
10 TWNK NM_021830.5(TWNK): c.908G> A (p.Arg303Gln) single nucleotide variant Pathogenic rs137852956 10:102748875-102748875 10:100989118-100989118
11 TWNK NM_021830.5(TWNK): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs267606682 10:102749087-102749087 10:100989330-100989330
12 TWNK NM_021830.5(TWNK): c.1070G> C (p.Arg357Pro) single nucleotide variant Likely pathogenic 10:102749037-102749037 10:100989280-100989280

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

74 (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...

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

3 CDC
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10 dbSNP
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73 UMLS via Orphanet
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