PEOA3
MCID: PRG039
MIFTS: 30

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

Categories: Genetic diseases

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

Aliases & Descriptions for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 54 24
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 3 66 29 69
Chronic Progressive External Ophthalmoplegia 66 69
Peoa3 24 66
Progressive External Ophthalmoplegia, Autosomal Dominant, 3 13
Progressive External Ophthalmoplegia Autosomal Dominant 3 66
Ocular Myopathy of Von Graefe-Fuchs 66
Mitochondrial Ocular Myopathy 66
Kearns-Sayre Syndrome 69
Graefe Disease 66
Cpeo 66

Characteristics:

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:

OMIM 54 609286
MedGen 40 C1836439
MeSH 42 D017246

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

OMIM : 54 Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The... (609286) more...

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3, also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 3, is related to chronic progressive external ophthalmoplegia and kearns-sayre syndrome, and has symptoms including fatigue, myalgia and seizures. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 is TWNK (Twinkle MtDNA Helicase). Affiliated tissues include eye, skeletal muscle and thyroid.

UniProtKB/Swiss-Prot : 66 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 related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 12.7
2 kearns-sayre syndrome 11.9
3 progressive external ophthalmoplegia, autosomal recessive 1 11.3
4 progressive external ophthalmoplegia, autosomal dominant 1 10.9
5 nkx2-1-related disorders 9.8 MT-TL1 TWNK
6 perrault syndrome 5 9.8 MT-TL1 TWNK
7 mental retardation with spastic paraplegia 9.7 MT-TL1 TWNK

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 by clinical synopsis from OMIM:

609286

Clinical features from OMIM:

609286

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

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

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


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

id Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 3 29
2 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 3 24 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:

39
Eye, Skeletal Muscle, Thyroid

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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:

66 (show all 29)
id 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

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

6 (show all 11)
id 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.1075G> A (p.Ala359Thr) single nucleotide variant Pathogenic rs111033573 GRCh37 Chromosome 10, 102749042: 102749042
4 TWNK NM_021830.4(TWNK): c.1422G> A (p.Trp474Ter) single nucleotide variant Pathogenic rs111033574 GRCh37 Chromosome 10, 102749579: 102749579
5 TWNK NM_021830.4(TWNK): c.944G> T (p.Trp315Leu) single nucleotide variant Pathogenic rs111033575 GRCh37 Chromosome 10, 102748911: 102748911
6 TWNK NM_021830.4(TWNK): c.1061G> C (p.Arg354Pro) single nucleotide variant Pathogenic rs111033576 GRCh37 Chromosome 10, 102749028: 102749028
7 TWNK NM_021830.4(TWNK): c.1142T> C (p.Leu381Pro) single nucleotide variant Pathogenic rs111033577 GRCh37 Chromosome 10, 102749109: 102749109
8 TWNK NM_021830.4(TWNK): c.1106C> A (p.Ser369Tyr) single nucleotide variant Pathogenic rs111033579 GRCh37 Chromosome 10, 102749073: 102749073
9 TWNK NM_021830.4(TWNK): c.955A> G (p.Lys319Glu) single nucleotide variant Pathogenic rs80356543 GRCh37 Chromosome 10, 102748922: 102748922
10 TWNK NM_021830.4(TWNK): c.908G> A (p.Arg303Gln) single nucleotide variant Pathogenic rs137852956 GRCh37 Chromosome 10, 102748875: 102748875
11 TWNK NM_021830.4(TWNK): c.1120C> T (p.Arg374Trp) single nucleotide variant Pathogenic rs267606682 GRCh37 Chromosome 10, 102749087: 102749087

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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