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, 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 75 73
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 29 6
Chronic Progressive External Ophthalmoplegia 75 73
Peoa3 57 75
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 75
Ocular Myopathy of Von Graefe-Fuchs 75
Mitochondrial Ocular Myopathy 75
Kearns-Sayre Syndrome 73
Graefe Disease 75
Cpeo 75

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:
Onset and clinical course adult onset progressive
Inheritance autosomal dominant inheritance


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)

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). Affiliated tissues include eye, skeletal muscle and thyroid, and related phenotypes are ptosis and depressivity

UniProtKB/Swiss-Prot : 75 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 all 45)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 12.9
2 kearns-sayre syndrome 12.2
3 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 12.0
4 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 12.0
5 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 12.0
6 ocular muscular dystrophy 11.7
7 maternally-inherited progressive external ophthalmoplegia 11.7
8 strabismus 11.6
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.5
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 2 11.4
11 ptosis 10.4
12 myopathy 10.4
13 mitochondrial myopathy 10.3
14 optic nerve disease 10.2
15 neuropathy 10.2
16 multiple sclerosis 10.1
17 polyglucosan body myopathy 1 with or without immunodeficiency 10.1
18 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
19 exotropia 10.1
20 atrial standstill 1 10.0
21 huntington disease 10.0
22 hypercholesterolemia, familial 10.0
23 macular dystrophy, dominant cystoid 10.0
24 retinitis pigmentosa 10.0
25 aging 10.0
26 focal segmental glomerulosclerosis 1 10.0
27 leber congenital amaurosis 4 10.0
28 focal segmental glomerulosclerosis 10.0
29 keratopathy 10.0
30 motor neuron disease 10.0
31 atrioventricular block 10.0
32 third-degree atrioventricular block 10.0
33 sensorineural hearing loss 10.0
34 retinitis 10.0
35 macular retinal edema 10.0
36 intracranial hypotension 10.0
37 mitochondrial metabolism disease 10.0
38 exophthalmos 10.0
39 mitochondrial disorders 10.0
40 encephalopathy 10.0
41 mitochondrial complex iv deficiency 9.9
42 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 9.9
43 peripheral nervous system disease 9.9
44 esotropia 9.9
45 dysphagia 9.9

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...

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
ragged red fibers
more
Neurologic Central Nervous System:
cerebral atrophy
seizures (uncommon)
psychomotor retardation
ataxia, sensory
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

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

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

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...

Search Clinical Trials , 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
Eye, Skeletal Muscle, Thyroid, Retina, Skin, Brain, Heart

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 168)
# Title Authors Year
1
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. ( 29300676 )
2018
2
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. ( 29333908 )
2018
3
Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia. ( 29582258 )
2018
4
Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient. ( 30340744 )
2018
5
Mitochondrial mutations in 12S rRNA and 16S rRNA presenting as chronic progressive external ophthalmoplegia (CPEO) plus: A case report. ( 29310369 )
2017
6
Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings. ( 28175988 )
2017
7
Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia. ( 28512510 )
2017
8
Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia. ( 28811105 )
2017
9
RE: "Unilateral Ptosis and Homolateral Hemifacial Weakness in Chronic Progressive External Ophthalmoplegia". ( 28533811 )
2017
10
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. ( 29398297 )
2017
11
Focal Segmental Glomerulosclerosis Associated with Chronic Progressive External Ophthalmoplegia and Mitochondrial DNA A3243G Mutation. ( 29190634 )
2017
12
Surgical Technique for Pulled in Two Syndrome: Three Cases With Chronic Progressive External Ophthalmoplegia. ( 29156062 )
2017
13
Reply to "Axonal hyperexcitability due to Schwann cell involvement in chronic progressive external ophthalmoplegia". ( 28838816 )
2017
14
Nerve excitability changes related to muscle weakness in chronic progressive external ophthalmoplegia. ( 28535487 )
2017
15
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. ( 29246868 )
2017
16
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. ( 27014581 )
2016
17
Histopathological and genetic analysis of extraocular muscle in chronic progressive external ophthalmoplegia. ( 27470685 )
2016
18
Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. ( 26689116 )
2016
19
Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion. ( 27113600 )
2016
20
Late-Onset Development of Eyelid Ptosis in Chronic Progressive External Ophthalmoplegia: A 30-Year Follow-up. ( 27928383 )
2016
21
Chronic Progressive External Ophthalmoplegia in the Absence of Ptosis. ( 27111092 )
2016
22
Vocal cord palsy in a case of chronic progressive external ophthalmoplegia. ( 26713034 )
2015
23
Pharyngeal transit in patients with chronic progressive external ophthalmoplegia. ( 25142449 )
2014
24
Cardiac involvement in chronic progressive external ophthalmoplegia. ( 25139213 )
2014
25
Novel mitochondrial tRNA(Ile) m.4282A>G gene mutation leads to chronic progressive external ophthalmoplegia plus phenotype. ( 25034047 )
2014
26
Chronic progressive external ophthalmoplegia with inflammatory myopathy. ( 25674260 )
2014
27
Selected Case From the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial Myopathy Presenting With Chronic Progressive External Ophthalmoplegia (CPEO): A Case Report. ( 25299315 )
2014
28
Mutations in the SPG7 gene cause chronic progressive external ophthalmoplegia through disordered mitochondrial DNA maintenance. ( 24727571 )
2014
29
No association between mitochondrial tRNA(Val) T1658C mutation and chronic progressive external ophthalmoplegia (CPEO). ( 23815321 )
2014
30
Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients. ( 23719791 )
2013
31
Extraocular muscle atrophy and central nervous system involvement in chronic progressive external ophthalmoplegia. ( 24086434 )
2013
32
Chronic progressive external ophthalmoplegia coexistent with motor neuron disease in a patient with a novel large-scale mitochondrial DNA deletion. ( 23266267 )
2013
33
Paralytic exophthalmos in chronic progressive external ophthalmoplegia. ( 22504268 )
2012
34
Sleep disturbances in chronic progressive external ophthalmoplegia. ( 21819490 )
2012
35
Diagnostic investigations of patients with chronic progressive external ophthalmoplegia. ( 23024221 )
2012
36
The mutations m.5628T>C and m.8348A>G in single muscle fibers of a patient with chronic progressive external ophthalmoplegia. ( 22743145 )
2012
37
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia. ( 21292040 )
2011
38
Chronic progressive external ophthalmoplegia with T9957C mitochondrial DNA mutation in a Taiwanese patient. ( 21249588 )
2011
39
Multisystem disorder in late-onset chronic progressive external ophthalmoplegia. ( 21156440 )
2011
40
Esophageal contractions in patients with chronic progressive external ophthalmoplegia. ( 21399928 )
2011
41
Nature and frequency of respiratory involvement in chronic progressive external ophthalmoplegia. ( 21533826 )
2011
42
Disease impact in chronic progressive external ophthalmoplegia: more than meets the eye. ( 21236670 )
2011
43
A novel mitochondrial tRNA(Ile) point mutation associated with chronic progressive external ophthalmoplegia and hyperCKemia. ( 20884012 )
2011
44
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of mitochondrial DNA deletion in chronic progressive external ophthalmoplegia (CPEO). ( 22166510 )
2011
45
Morphological findings of extraocular myopathy with chronic progressive external ophthalmoplegia. ( 20192704 )
2010
46
Chronic progressive external ophthalmoplegia with recurrent quadriparesis : an unusual presentation. ( 21045517 )
2010
47
A novel mutation in the tRNAIle gene (MTTI) affecting the variable loop in a patient with chronic progressive external ophthalmoplegia (CPEO). ( 20149659 )
2010
48
The management of strabismus in patients with chronic progressive external ophthalmoplegia. ( 20521878 )
2010
49
Eye movement recordings to investigate a supranuclear component in chronic progressive external ophthalmoplegia: a cross-sectional study. ( 20576783 )
2010
50
A novel mitochondrial tRNAGlu (MTTE) gene mutation causing chronic progressive external ophthalmoplegia at low levels of heteroplasmy in muscle. ( 20810132 )
2010

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

75 (show all 29)
# Symbol AA change Variation ID SNP ID
1 TWNK p.Arg303Trp VAR_023647
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
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
19 TWNK p.Ala362Pro VAR_065108
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
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

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

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 TWNK TWNK, 39-BP DUP duplication Pathogenic
2 TWNK NM_021830.4(TWNK): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs111033572 GRCh37 Chromosome 10, 102749580: 102749580
3 TWNK NM_021830.4(TWNK): c.1423G> C (p.Ala475Pro) single nucleotide variant Pathogenic rs111033572 GRCh38 Chromosome 10, 100989823: 100989823
4 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
5 TWNK NM_021830.4(TWNK): c.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh38 Chromosome 10, 100989285: 100989285
6 TWNK NM_021830.4(TWNK): c.1422G> A (p.Trp474Ter) single nucleotide variant Pathogenic rs111033574 GRCh37 Chromosome 10, 102749579: 102749579
7 TWNK NM_021830.4(TWNK): c.1422G> A (p.Trp474Ter) single nucleotide variant Pathogenic rs111033574 GRCh38 Chromosome 10, 100989822: 100989822
8 TWNK NM_021830.4(TWNK): c.944G> T (p.Trp315Leu) single nucleotide variant Pathogenic rs111033575 GRCh37 Chromosome 10, 102748911: 102748911
9 TWNK NM_021830.4(TWNK): c.944G> T (p.Trp315Leu) single nucleotide variant Pathogenic rs111033575 GRCh38 Chromosome 10, 100989154: 100989154
10 TWNK NM_021830.4(TWNK): c.1061G> C (p.Arg354Pro) single nucleotide variant Pathogenic rs111033576 GRCh37 Chromosome 10, 102749028: 102749028
11 TWNK NM_021830.4(TWNK): c.1061G> C (p.Arg354Pro) single nucleotide variant Pathogenic rs111033576 GRCh38 Chromosome 10, 100989271: 100989271
12 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
13 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh38 Chromosome 10, 100989352: 100989352
14 TWNK NM_021830.4(TWNK): c.1106C> A (p.Ser369Tyr) single nucleotide variant Pathogenic rs111033579 GRCh37 Chromosome 10, 102749073: 102749073
15 TWNK NM_021830.4(TWNK): c.1106C> A (p.Ser369Tyr) single nucleotide variant Pathogenic rs111033579 GRCh38 Chromosome 10, 100989316: 100989316
16 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh37 Chromosome 10, 102748922: 102748922
17 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh38 Chromosome 10, 100989165: 100989165
18 TWNK NM_021830.4(TWNK): c.908G> A (p.Arg303Gln) single nucleotide variant Pathogenic rs137852956 GRCh37 Chromosome 10, 102748875: 102748875
19 TWNK NM_021830.4(TWNK): c.908G> A (p.Arg303Gln) single nucleotide variant Pathogenic rs137852956 GRCh38 Chromosome 10, 100989118: 100989118
20 TWNK NM_021830.4(TWNK): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs267606682 GRCh37 Chromosome 10, 102749087: 102749087
21 TWNK NM_021830.4(TWNK): c.1120C> T (p.Arg374Trp) single nucleotide variant Likely pathogenic rs267606682 GRCh38 Chromosome 10, 100989330: 100989330

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...

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