PEOA3
MCID: PRG039
MIFTS: 44

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

Categories: Bone diseases, Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory 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
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 12 29 6 15
Peoa3 57 12 72
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 72 70
Chronic Progressive External Ophthalmoplegia 72 70
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 57
Autosomal Dominant Progressive External Ophthalmoplegia 3 12
Progressive External Ophthalmoplegia Autosomal Dominant 3 72
Ocular Myopathy of Von Graefe-Fuchs 72
Mitochondrial Ocular Myopathy 72
Kearns-Sayre Syndrome 70
Graefe Disease 72
Cpeo 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® : 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) (Updated 05-Apr-2021)

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 mitochondrial disorders and mitochondrial myopathy, 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). Affiliated tissues include eye, skeletal muscle and thyroid, and related phenotypes are dysarthria and diabetes mellitus

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

UniProtKB/Swiss-Prot : 72 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 129)
# Related Disease Score Top Affiliating Genes
1 mitochondrial disorders 30.4 TWNK LARS2
2 mitochondrial myopathy 30.3 TWNK MSTO1 LARS2
3 mitochondrial encephalomyopathy 30.3 TWNK LARS2
4 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 29.8 TWNK LARS2
5 chronic progressive external ophthalmoplegia 12.0
6 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 11.8
7 kearns-sayre syndrome 11.8
8 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 11.8
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 11.8
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.7
11 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.7
12 ocular muscular dystrophy 11.4
13 mitochondrial dna-related progressive external ophthalmoplegia 11.4
14 strabismus 11.3
15 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 11.3
16 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5 11.2
17 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 6 11.2
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 3 11.2
19 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 4 11.2
20 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5 11.2
21 ptosis 10.9
22 myopathy 10.9
23 mitochondrial metabolism disease 10.5
24 mechanical strabismus 10.5
25 dysphagia 10.5
26 branchiootic syndrome 1 10.4
27 neuropathy 10.4
28 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
29 alternating exotropia 10.4
30 exotropia 10.4
31 optic nerve disease 10.4
32 lactic acidosis 10.4
33 myasthenia gravis 10.4
34 retinitis pigmentosa 10.4
35 neuroretinitis 10.4
36 retinitis 10.4
37 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.4
38 hereditary optic neuropathy 10.4
39 3-methylglutaconic aciduria, type iii 10.3
40 ataxia and polyneuropathy, adult-onset 10.3
41 lagophthalmos 10.3
42 peripheral nervous system disease 10.3
43 keratitis, hereditary 10.2
44 optic atrophy 1 10.2
45 atrioventricular block 10.2
46 sensorineural hearing loss 10.2
47 monocular esotropia 10.2
48 keratopathy 10.2
49 movement disease 10.2
50 exophthalmos 10.2

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 dysarthria 31 occasional (7.5%) HP:0001260
2 diabetes mellitus 31 occasional (7.5%) HP:0000819
3 cataract 31 occasional (7.5%) HP:0000518
4 premature ovarian insufficiency 31 occasional (7.5%) HP:0008209
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 ptosis 31 HP:0000508
14 depressivity 31 HP:0000716
15 gait disturbance 31 HP:0001288
16 dysphonia 31 HP:0001618
17 dysphagia 31 HP:0002015
18 global developmental delay 31 HP:0001263
19 fatigue 31 HP:0012378
20 emg: myopathic abnormalities 31 HP:0003458
21 progressive external ophthalmoplegia 31 HP:0000590
22 ragged-red muscle fibers 31 HP:0003200
23 myalgia 31 HP:0003326
24 areflexia 31 HP:0001284
25 increased serum lactate 31 HP:0002151
26 hyporeflexia 31 HP:0001265
27 psychomotor retardation 31 HP:0025356
28 limb muscle weakness 31 HP:0003690
29 cerebral atrophy 31 HP:0002059
30 dementia 31 HP:0000726
31 proximal muscle weakness 31 HP:0003701
32 progressive muscle weakness 31 HP:0003323
33 exercise intolerance 31 HP:0003546
34 sensory ataxia 31 HP:0010871
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®:

57 (Updated 05-Apr-2021)
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:
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)

Muscle Soft Tissue:
fatigue
limb muscle weakness
proximal muscle weakness
exercise intolerance
muscle pain
more
Neurologic Central Nervous System:
psychomotor retardation
cerebral atrophy
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 (Updated 05-Apr-2021)

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


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

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Magnetic Resonance Imaging Study of Patients With Chronic Progressive External Ophthalmoplegia Completed NCT02161848
2 Nutritional Assessment in Patients Affected by Mitochondrial Cytopathy Completed NCT02375438
3 Effect Of The System In The Enriched Fat Metabolism Of The Child Reached Mitochondrial Cytopathy Completed NCT02385565
4 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940

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 18)
# Title Authors PMID Year
1
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. 57 6
20479361 2010
2
A novel variation in the Twinkle linker region causing late-onset dementia. 57 6
19513767 2010
3
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 57
19353676 2009
4
Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. 57 6
15668446 2005
5
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. 57 6
11431692 2001
6
Mapping of autosomal dominant progressive external ophthalmoplegia to a 7-cM critical region on 10q24. 57 6
10522883 1999
7
Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. 6 57
1634620 1992
8
Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation. 6
24018892 2013
9
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. 6
20659899 2010
10
Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase. 6
17614277 2007
11
Familial parkinsonism and ophthalmoplegia from a mutation in the mitochondrial DNA helicase twinkle. 57
17620490 2007
12
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. 57
16301523 2005
13
Clinical and molecular features of adPEO due to mutations in the Twinkle gene. 6
12163192 2002
14
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 57
12210792 2002
15
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. 57
11756592 2001
16
Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease. 57
9153451 1997
17
An autosomal locus predisposing to deletions of mitochondrial DNA. 57
7719341 1995
18
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 84)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TWNK TWNK, 39-BP DUP Duplication Pathogenic 4616 GRCh37:
GRCh38:
2 TWNK NM_021830.5(TWNK):c.1423G>C (p.Ala475Pro) SNV Pathogenic 4617 rs111033572 GRCh37: 10:102749580-102749580
GRCh38: 10:100989823-100989823
3 TWNK NM_021830.5(TWNK):c.1422G>A (p.Trp474Ter) SNV Pathogenic 4619 rs111033574 GRCh37: 10:102749579-102749579
GRCh38: 10:100989822-100989822
4 TWNK NM_021830.5(TWNK):c.944G>T (p.Trp315Leu) SNV Pathogenic 4620 rs111033575 GRCh37: 10:102748911-102748911
GRCh38: 10:100989154-100989154
5 TWNK NM_021830.5(TWNK):c.1061G>C (p.Arg354Pro) SNV Pathogenic 4621 rs111033576 GRCh37: 10:102749028-102749028
GRCh38: 10:100989271-100989271
6 TWNK NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr) SNV Pathogenic 4624 rs111033579 GRCh37: 10:102749073-102749073
GRCh38: 10:100989316-100989316
7 TWNK NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) SNV Pathogenic 4618 rs111033573 GRCh37: 10:102749042-102749042
GRCh38: 10:100989285-100989285
8 TWNK NM_021830.5(TWNK):c.1142T>C (p.Leu381Pro) SNV Pathogenic 4622 rs111033577 GRCh37: 10:102749109-102749109
GRCh38: 10:100989352-100989352
9 TWNK NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) SNV Pathogenic 4625 rs80356543 GRCh37: 10:102748922-102748922
GRCh38: 10:100989165-100989165
10 TWNK NM_021830.5(TWNK):c.908G>A (p.Arg303Gln) SNV Pathogenic 4628 rs137852956 GRCh37: 10:102748875-102748875
GRCh38: 10:100989118-100989118
11 TWNK NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp) SNV Pathogenic 4629 rs267606682 GRCh37: 10:102749087-102749087
GRCh38: 10:100989330-100989330
12 TWNK NM_021830.5(TWNK):c.1003C>A (p.Pro335Thr) SNV Likely pathogenic 426102 rs1554887028 GRCh37: 10:102748970-102748970
GRCh38: 10:100989213-100989213
13 TWNK NM_021830.5(TWNK):c.649C>T (p.Arg217Ter) SNV Likely pathogenic 975884 GRCh37: 10:102748616-102748616
GRCh38: 10:100988859-100988859
14 TWNK NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) SNV Likely pathogenic 632124 rs758026634 GRCh37: 10:102749037-102749037
GRCh38: 10:100989280-100989280
15 TWNK NM_021830.5(TWNK):c.-622C>T SNV Uncertain significance 877083 GRCh37: 10:102747346-102747346
GRCh38: 10:100987589-100987589
16 TWNK NM_021830.5(TWNK):c.-418C>T SNV Uncertain significance 877145 GRCh37: 10:102747550-102747550
GRCh38: 10:100987793-100987793
17 TWNK NM_021830.5(TWNK):c.1572C>T (p.His524=) SNV Uncertain significance 877318 GRCh37: 10:102750280-102750280
GRCh38: 10:100990523-100990523
18 TWNK NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) SNV Uncertain significance 877377 GRCh37: 10:102753038-102753038
GRCh38: 10:100993281-100993281
19 TWNK NM_021830.5(TWNK):c.*248G>A SNV Uncertain significance 877431 GRCh37: 10:102753515-102753515
GRCh38: 10:100993758-100993758
20 TWNK NM_021830.5(TWNK):c.-592C>T SNV Uncertain significance 878124 GRCh37: 10:102747376-102747376
GRCh38: 10:100987619-100987619
21 TWNK NM_021830.5(TWNK):c.-304G>A SNV Uncertain significance 877146 GRCh37: 10:102747664-102747664
GRCh38: 10:100987907-100987907
22 TWNK NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) SNV Uncertain significance 878400 GRCh37: 10:102753118-102753118
GRCh38: 10:100993361-100993361
23 TWNK NM_021830.5(TWNK):c.*367A>G SNV Uncertain significance 298508 rs62626296 GRCh37: 10:102753634-102753634
GRCh38: 10:100993877-100993877
24 TWNK NM_021830.5(TWNK):c.*747C>G SNV Uncertain significance 298518 rs886046638 GRCh37: 10:102754014-102754014
GRCh38: 10:100994257-100994257
25 TWNK NM_021830.5(TWNK):c.276C>T (p.Gly92=) SNV Uncertain significance 298497 rs886046631 GRCh37: 10:102748243-102748243
GRCh38: 10:100988486-100988486
26 TWNK NM_021830.5(TWNK):c.*341G>A SNV Uncertain significance 878455 GRCh37: 10:102753608-102753608
GRCh38: 10:100993851-100993851
27 TWNK NM_021830.5(TWNK):c.*346A>C SNV Uncertain significance 878456 GRCh37: 10:102753613-102753613
GRCh38: 10:100993856-100993856
28 TWNK NM_021830.5(TWNK):c.*552G>C SNV Uncertain significance 878511 GRCh37: 10:102753819-102753819
GRCh38: 10:100994062-100994062
29 TWNK NM_021830.5(TWNK):c.*769G>A SNV Uncertain significance 878551 GRCh37: 10:102754036-102754036
GRCh38: 10:100994279-100994279
30 TWNK NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) SNV Uncertain significance 878242 GRCh37: 10:102748563-102748563
GRCh38: 10:100988806-100988806
31 TWNK NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) SNV Uncertain significance 878940 GRCh37: 10:102750630-102750630
GRCh38: 10:100990873-100990873
32 TWNK NM_021830.5(TWNK):c.*561C>T SNV Uncertain significance 879092 GRCh37: 10:102753828-102753828
GRCh38: 10:100994071-100994071
33 TWNK NM_021830.5(TWNK):c.-584G>C SNV Uncertain significance 879588 GRCh37: 10:102747384-102747384
GRCh38: 10:100987627-100987627
34 TWNK NM_021830.5(TWNK):c.913G>A (p.Val305Ile) SNV Uncertain significance 880052 GRCh37: 10:102748880-102748880
GRCh38: 10:100989123-100989123
35 TWNK NM_021830.5(TWNK):c.*453G>A SNV Uncertain significance 880257 GRCh37: 10:102753720-102753720
GRCh38: 10:100993963-100993963
36 TWNK NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) SNV Uncertain significance 298504 rs886046632 GRCh37: 10:102753065-102753065
GRCh38: 10:100993308-100993308
37 TWNK NM_021830.5(TWNK):c.1566G>A (p.Met522Ile) SNV Uncertain significance 981929 GRCh37: 10:102750274-102750274
GRCh38: 10:100990517-100990517
38 TWNK NM_021830.5(TWNK):c.77G>T (p.Gly26Val) SNV Uncertain significance 298495 rs772221026 GRCh37: 10:102748044-102748044
GRCh38: 10:100988287-100988287
39 TWNK NM_021830.5(TWNK):c.922T>C (p.Leu308=) SNV Uncertain significance 298499 rs754389465 GRCh37: 10:102748889-102748889
GRCh38: 10:100989132-100989132
40 TWNK NM_021830.5(TWNK):c.-585T>G SNV Uncertain significance 298486 rs886046624 GRCh37: 10:102747383-102747383
GRCh38: 10:100987626-100987626
41 TWNK NM_021830.5(TWNK):c.-549G>A SNV Uncertain significance 298487 rs886046625 GRCh37: 10:102747419-102747419
GRCh38: 10:100987662-100987662
42 TWNK NM_021830.5(TWNK):c.*574C>T SNV Uncertain significance 298515 rs886046636 GRCh37: 10:102753841-102753841
GRCh38: 10:100994084-100994084
43 TWNK NM_021830.5(TWNK):c.*438G>C SNV Uncertain significance 298510 rs886046634 GRCh37: 10:102753705-102753705
GRCh38: 10:100993948-100993948
44 TWNK NM_021830.5(TWNK):c.*763T>C SNV Uncertain significance 298519 rs886046639 GRCh37: 10:102754030-102754030
GRCh38: 10:100994273-100994273
45 TWNK NM_021830.5(TWNK):c.*234T>G SNV Uncertain significance 298506 rs886046633 GRCh37: 10:102753501-102753501
GRCh38: 10:100993744-100993744
46 TWNK NM_021830.5(TWNK):c.*619G>A SNV Uncertain significance 298516 rs886046637 GRCh37: 10:102753886-102753886
GRCh38: 10:100994129-100994129
47 TWNK NM_021830.5(TWNK):c.-470G>A SNV Uncertain significance 298488 rs886046626 GRCh37: 10:102747498-102747498
GRCh38: 10:100987741-100987741
48 TWNK NM_021830.5(TWNK):c.*555G>A SNV Uncertain significance 298514 rs886046635 GRCh37: 10:102753822-102753822
GRCh38: 10:100994065-100994065
49 TWNK NM_021830.5(TWNK):c.-423C>T SNV Uncertain significance 298489 rs886046627 GRCh37: 10:102747545-102747545
GRCh38: 10:100987788-100987788
50 TWNK NM_021830.5(TWNK):c.-644A>T SNV Uncertain significance 298485 rs886046623 GRCh37: 10:102747324-102747324
GRCh38: 10:100987567-100987567

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

72 (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...

Cellular components 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 mitochondrion GO:0005739 9.26 TWNK MSTO1 LARS2 ERAL1
2 mitochondrial matrix GO:0005759 8.8 TWNK LARS2 ERAL1

Biological processes 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 mitochondrion organization GO:0007005 8.62 TWNK MSTO1

Sources for Progressive External Ophthalmoplegia with Mitochondrial Dna...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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