PEOA2
MCID: PRG038
MIFTS: 49

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 (PEOA2)

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 2:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 57
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 2 12 29 6 15
Peoa2 57 12 72
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 2 72 70
Chronic Progressive External Ophthalmoplegia 72 70
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 2 39
Progressive External Ophthalmoplegia, Autosomal Dominant 2 57
Autosomal Dominant Progressive External Ophthalmoplegia 2 12
Progressive External Ophthalmoplegia Autosomal Dominant 2 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
genetic heterogeneity (see )
adult onset (before 50 years)
slc25a4 mutations account for approximately 4% of all peo cases


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course progressive adult onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111517
OMIM® 57 609283
OMIM Phenotypic Series 57 PS157640
MeSH 44 D017246
MedGen 41 C1836460
UMLS 70 C0022541 C0162674 C1836460

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. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640). (609283) (Updated 05-Apr-2021)

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2, also known as autosomal dominant progressive external ophthalmoplegia with mitochondrial dna deletions 2, is related to chronic progressive external ophthalmoplegia and optic nerve disease, and has symptoms including seizures, muscle weakness and ophthalmoplegia. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 is SLC25A4 (Solute Carrier Family 25 Member 4), and among its related pathways/superpathways are Spinocerebellar ataxia and Synaptic vesicle cycle. Affiliated tissues include skeletal muscle, eye and retina, and related phenotypes are sensorineural hearing impairment and ptosis

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in heterozygous mutation in SLC25A4 on chromosome 4q35.1.

UniProtKB/Swiss-Prot : 72 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 2: 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 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 chronic progressive external ophthalmoplegia 32.6 SOD2 SLC25A4
2 optic nerve disease 29.7 SOD2 DNM1 CYCS
3 optic atrophy 1 29.4 SOD2 DNM1 CYCS
4 leber hereditary optic neuropathy, modifier of 29.3 SOD2 SLC25A4 CYCS
5 cataract 28.6 SOD2 SLC25A4 CYCS
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 4 11.8
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 11.7
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 3 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 myopathy 10.8
24 mitochondrial disorders 10.6
25 mitochondrial metabolism disease 10.5
26 mitochondrial encephalomyopathy 10.5
27 mechanical strabismus 10.5
28 dysphagia 10.5
29 branchiootic syndrome 1 10.4
30 neuropathy 10.4
31 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
32 alternating exotropia 10.4
33 exotropia 10.4
34 lactic acidosis 10.4
35 myasthenia gravis 10.4
36 retinitis pigmentosa 10.4
37 mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes 10.4
38 neuroretinitis 10.4
39 retinitis 10.4
40 mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes 10.4
41 hereditary optic neuropathy 10.4
42 3-methylglutaconic aciduria, type iii 10.3
43 ataxia and polyneuropathy, adult-onset 10.3
44 lagophthalmos 10.3
45 peripheral nervous system disease 10.3
46 keratitis, hereditary 10.2
47 atrioventricular block 10.2
48 sensorineural hearing loss 10.2
49 monocular esotropia 10.2
50 keratopathy 10.2

Graphical network of the top 20 diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:



Diseases related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2

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

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 occasional (7.5%) HP:0000407
2 ptosis 31 HP:0000508
3 facial palsy 31 HP:0010628
4 emg: myopathic abnormalities 31 HP:0003458
5 progressive external ophthalmoplegia 31 HP:0000590
6 ragged-red muscle fibers 31 HP:0003200
7 generalized muscle weakness 31 HP:0003324
8 exercise intolerance 31 HP:0003546
9 cytochrome c oxidase-negative muscle fibers 31 HP:0003688
10 subsarcolemmal accumulations of abnormally shaped mitochondria 31 HP:0003548
11 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

Head And Neck Ears:
sensorineural hearing loss (in some patients)

Muscle Soft Tissue:
facial muscle weakness
ragged red fibers seen on muscle biopsy
myopathic changes seen on emg
multiple mitochondrial dna (mtdna) deletions
decreased activity of cytochrome c oxidase
more
Laboratory Abnormalities:
serum lactate is usually normal

Clinical features from OMIM®:

609283 (Updated 05-Apr-2021)

UMLS symptoms related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:


seizures; muscle weakness; ophthalmoplegia; cerebellar ataxia; facial paresis

MGI Mouse Phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.35 CYCS DNM1 RCAN1 SLC25A4 SOD2
2 cellular MP:0005384 9.02 CYCS DNM1 RCAN1 SLC25A4 SOD2

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 2

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

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

# Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 2 29 SLC25A4

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

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

40
Skeletal Muscle, Eye, Retina, Brain, Endothelial, Pituitary, Cortex

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

(show top 50) (show all 538)
# Title Authors PMID Year
1
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family. 6 57
11756613 2001
2
Role of adenine nucleotide translocator 1 in mtDNA maintenance. 6 57
10926541 2000
3
A third locus predisposing to multiple deletions of mtDNA in autosomal dominant progressive external ophthalmoplegia. 57 6
10364542 1999
4
An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p. 57 6
8644740 1996
5
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study. 57
15351195 2004
6
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma. 57
12975295 2003
7
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia. 57
12210792 2002
8
A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions. 6
12112115 2002
9
ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia. 57
11756592 2001
10
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. 57
9207786 1997
11
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients. 61
33717984 2021
12
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses: Response. 61
32868563 2021
13
Strabismus in chronic progressive external ophthalmoplegia. 61
33191655 2021
14
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. 61
33486010 2021
15
Mitophagy: An Emerging Target in Ocular Pathology. 61
33724294 2021
16
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt. 61
33127537 2021
17
Clinico-pathological and Molecular Spectrum of Mitochondrial Polymerase γ Mutations in a Cohort from India. 61
33469851 2021
18
Progressive External Ophthalmoplegia in Polish Patients-From Clinical Evaluation to Genetic Confirmation. 61
33396418 2020
19
Electrophysiological study of neuromuscular junction in congenital myasthenic syndromes, congenital myopathies, and chronic progressive external ophthalmoplegia. 61
33121830 2020
20
Extraocular Muscle Reveals Selective Vulnerability of Type IIB Fibers to Respiratory Chain Defects Induced by Mitochondrial DNA Alterations. 61
33057669 2020
21
Clinical, neuroelectrophysiological and muscular pathological analysis of chronic progressive external ophthalmoplegia. 61
32742407 2020
22
Surgical management of ptosis in chronic progressive external ophthalmoplegia. 61
32847396 2020
23
A PRIMPOL mutation and variants in multiple genes may contribute to phenotypes in a familial case with chronic progressive external ophthalmoplegia symptoms. 61
31348995 2020
24
MRI findings in SANDO variety of the ataxia-neuropathy spectrum with a novel mutation in POLG (c.3287G>T): A case report. 61
32600829 2020
25
Increased intra-mitochondrial lipofuscin aggregates with spherical dense body formation in mitochondrial myopathy. 61
32272361 2020
26
Severe Chronic Progressive External Ophthalmoplegia-Associated Ptosis Successfully Treated With Scleral Lenses. 61
32349064 2020
27
Cognitive Profile of Patients With Mitochondrial Chronic Progressive External Ophthalmoplegia. 61
32063883 2020
28
Neurodegenerative Diseases Associated with Mitochondrial DNA Mutations. 61
31755379 2020
29
Chronic Progressive External Ophthalmoplegia due to a Rare de novo m.12334G>A MT-TL2 Mitochondrial DNA Variant1. 61
32310184 2020
30
Clinical Profile and Outcome of Pediatric Mitochondrial Myopathy in China. 61
33013660 2020
31
Pediatric liver diseases and ocular changes: What hepatologists and ophthalmologists should know and share with each other. 61
31843253 2020
32
Genotypes of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 61
31521625 2019
33
Exophthalmos in Kearns-Sayre syndrome. 61
31158487 2019
34
A novel mitochondrial m.4414T>C MT-TM gene variant causing progressive external ophthalmoplegia and myopathy. 61
31488384 2019
35
Chronic Progressive External Ophthalmoplegia and Bilateral Vestibular Hypofunction: Balance, Gait, and Eye Movement Before and After Multimodal Chiropractic Care: A Case Study. 61
31367202 2019
36
Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNAAsn mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia. 61
30962064 2019
37
Optical coherence tomography findings in chronic progressive external ophthalmoplegia. 61
31140991 2019
38
Muscle pain in mitochondrial diseases: a picture from the Italian network. 61
30710167 2019
39
Late-onset presentation of POLG1-associated mitochondrial disease. 61
30936349 2019
40
[Mitochondrial diseases]. 61
30643957 2019
41
CPEO and Mitochondrial Myopathy in a Patient with DGUOK Compound Heterozygous Pathogenetic Variant and mtDNA Multiple Deletions. 61
30956829 2019
42
A rare case of mitochondriopathy with autosomal dominant progressive external ophthalmoplegia diagnosed through skeletal muscle biopsy. 61
31263856 2019
43
Strabismus surgery for diplopia in chronic progressive external ophthalmoplegia. 61
29582258 2019
44
Teaching Video NeuroImages: MT-TL1 mutation presenting as chronic progressive external ophthalmoplegia. 61
30665919 2019
45
Appendicular skeletal muscle mass: A more sensitive biomarker of disease severity than BMI in adults with mitochondrial diseases. 61
31344055 2019
46
Clinical and demographic features of chronic progressive external ophthalmoplegia in a large adult-onset cohort. 61
29246868 2019
47
Ophthalmoplegia in Mitochondrial Disease. 61
30450853 2018
48
Novel mutation in the RNASEH1 gene in a chronic progressive external ophthalmoplegia patient. 61
30340744 2018
49
Intracranial hypotension mimicking chronic progressive external ophthalmoplegia. 61
29300676 2018
50
False positive acetylcholine receptor antibodies in a case of unilateral chronic progressive external ophthalmoplegia: case report and review of literature. 61
29333908 2018

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

6 (show top 50) (show all 75)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SLC25A4 NM_001151.4(SLC25A4):c.340G>C (p.Ala114Pro) SNV Pathogenic 18245 rs104893873 GRCh37: 4:186066146-186066146
GRCh38: 4:185144992-185144992
2 SLC25A4 NM_001151.4(SLC25A4):c.865G>A (p.Val289Met) SNV Pathogenic 18246 rs104893874 GRCh37: 4:186068093-186068093
GRCh38: 4:185146939-185146939
3 SLC25A4 NM_001151.4(SLC25A4):c.293T>C (p.Leu98Pro) SNV Pathogenic 18247 rs104893876 GRCh37: 4:186066099-186066099
GRCh38: 4:185144945-185144945
4 SLC25A4 NM_001151.4(SLC25A4):c.311A>G (p.Asp104Gly) SNV Pathogenic 18248 rs28999114 GRCh37: 4:186066117-186066117
GRCh38: 4:185144963-185144963
5 SLC25A4 NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp) SNV Likely pathogenic 18249 rs121912683 GRCh37: 4:186066174-186066174
GRCh38: 4:185145020-185145020
6 SLC25A4 NM_001151.4(SLC25A4):c.*2782G>A SNV Uncertain significance 348280 rs886059276 GRCh37: 4:186070907-186070907
GRCh38: 4:185149753-185149753
7 SLC25A4 NM_001151.4(SLC25A4):c.732G>C (p.Arg244=) SNV Uncertain significance 348246 rs886059266 GRCh37: 4:186067046-186067046
GRCh38: 4:185145892-185145892
8 SLC25A4 NM_001151.4(SLC25A4):c.*151T>C SNV Uncertain significance 900372 GRCh37: 4:186068276-186068276
GRCh38: 4:185147122-185147122
9 SLC25A4 NM_001151.4(SLC25A4):c.*3276C>T SNV Uncertain significance 348285 rs187103619 GRCh37: 4:186071401-186071401
GRCh38: 4:185150247-185150247
10 SLC25A4 NM_001151.4(SLC25A4):c.793G>A (p.Glu265Lys) SNV Uncertain significance 348248 rs772055424 GRCh37: 4:186068021-186068021
GRCh38: 4:185146867-185146867
11 SLC25A4 NM_001151.4(SLC25A4):c.*2592C>T SNV Uncertain significance 348277 rs575736094 GRCh37: 4:186070717-186070717
GRCh38: 4:185149563-185149563
12 SLC25A4 NM_001151.4(SLC25A4):c.*2720G>A SNV Uncertain significance 348279 rs559222593 GRCh37: 4:186070845-186070845
GRCh38: 4:185149691-185149691
13 SLC25A4 NM_001151.4(SLC25A4):c.*671A>G SNV Uncertain significance 348257 rs181474745 GRCh37: 4:186068796-186068796
GRCh38: 4:185147642-185147642
14 SLC25A4 NM_001151.4(SLC25A4):c.*3277G>A SNV Uncertain significance 348286 rs886059277 GRCh37: 4:186071402-186071402
GRCh38: 4:185150248-185150248
15 SLC25A4 NM_001151.4(SLC25A4):c.*1378A>G SNV Uncertain significance 348266 rs868358526 GRCh37: 4:186069503-186069503
GRCh38: 4:185148349-185148349
16 SLC25A4 NM_001151.4(SLC25A4):c.*2713G>A SNV Uncertain significance 348278 rs886059275 GRCh37: 4:186070838-186070838
GRCh38: 4:185149684-185149684
17 SLC25A4 NM_001151.4(SLC25A4):c.*2350G>C SNV Uncertain significance 348272 rs886059274 GRCh37: 4:186070475-186070475
GRCh38: 4:185149321-185149321
18 SLC25A4 NM_001151.4(SLC25A4):c.*424A>G SNV Uncertain significance 348252 rs886059269 GRCh37: 4:186068549-186068549
GRCh38: 4:185147395-185147395
19 SLC25A4 NM_001151.4(SLC25A4):c.-46G>A SNV Uncertain significance 348244 rs763271934 GRCh37: 4:186064481-186064481
GRCh38: 4:185143327-185143327
20 SLC25A4 NM_001151.4(SLC25A4):c.*824C>T SNV Uncertain significance 348258 rs779103031 GRCh37: 4:186068949-186068949
GRCh38: 4:185147795-185147795
21 SLC25A4 NM_001151.4(SLC25A4):c.*1163G>T SNV Uncertain significance 348264 rs886059272 GRCh37: 4:186069288-186069288
GRCh38: 4:185148134-185148134
22 SLC25A4 NM_001151.4(SLC25A4):c.*2824G>C SNV Uncertain significance 348281 rs371093501 GRCh37: 4:186070949-186070949
GRCh38: 4:185149795-185149795
23 SLC25A4 NM_001151.4(SLC25A4):c.*448G>A SNV Uncertain significance 900374 GRCh37: 4:186068573-186068573
GRCh38: 4:185147419-185147419
24 SLC25A4 NM_001151.4(SLC25A4):c.*482G>C SNV Uncertain significance 900375 GRCh37: 4:186068607-186068607
GRCh38: 4:185147453-185147453
25 SLC25A4 NM_001151.4(SLC25A4):c.*2499G>T SNV Uncertain significance 900425 GRCh37: 4:186070624-186070624
GRCh38: 4:185149470-185149470
26 SLC25A4 NM_001151.4(SLC25A4):c.*2510T>C SNV Uncertain significance 900426 GRCh37: 4:186070635-186070635
GRCh38: 4:185149481-185149481
27 SLC25A4 NM_001151.4(SLC25A4):c.*2616C>T SNV Uncertain significance 900427 GRCh37: 4:186070741-186070741
GRCh38: 4:185149587-185149587
28 SLC25A4 NM_001151.4(SLC25A4):c.*2618C>G SNV Uncertain significance 900428 GRCh37: 4:186070743-186070743
GRCh38: 4:185149589-185149589
29 SLC25A4 NM_001151.4(SLC25A4):c.*2697T>C SNV Uncertain significance 900429 GRCh37: 4:186070822-186070822
GRCh38: 4:185149668-185149668
30 SLC25A4 NM_001151.4(SLC25A4):c.*2802C>T SNV Uncertain significance 900487 GRCh37: 4:186070927-186070927
GRCh38: 4:185149773-185149773
31 SLC25A4 NM_001151.4(SLC25A4):c.*3025G>A SNV Uncertain significance 900488 GRCh37: 4:186071150-186071150
GRCh38: 4:185149996-185149996
32 SLC25A4 NM_001151.4(SLC25A4):c.*571T>G SNV Uncertain significance 901522 GRCh37: 4:186068696-186068696
GRCh38: 4:185147542-185147542
33 SLC25A4 NM_001151.4(SLC25A4):c.*655G>C SNV Uncertain significance 901523 GRCh37: 4:186068780-186068780
GRCh38: 4:185147626-185147626
34 SLC25A4 NM_001151.4(SLC25A4):c.*994G>A SNV Uncertain significance 901524 GRCh37: 4:186069119-186069119
GRCh38: 4:185147965-185147965
35 SLC25A4 NM_001151.4(SLC25A4):c.-65C>T SNV Uncertain significance 902042 GRCh37: 4:186064462-186064462
GRCh38: 4:185143308-185143308
36 SLC25A4 NM_001151.4(SLC25A4):c.*1217A>C SNV Uncertain significance 902102 GRCh37: 4:186069342-186069342
GRCh38: 4:185148188-185148188
37 SLC25A4 NM_001151.4(SLC25A4):c.*1546T>C SNV Uncertain significance 902103 GRCh37: 4:186069671-186069671
GRCh38: 4:185148517-185148517
38 SLC25A4 NM_001151.4(SLC25A4):c.*3195T>C SNV Uncertain significance 902158 GRCh37: 4:186071320-186071320
GRCh38: 4:185150166-185150166
39 SLC25A4 NM_001151.4(SLC25A4):c.*3229A>G SNV Uncertain significance 902159 GRCh37: 4:186071354-186071354
GRCh38: 4:185150200-185150200
40 SLC25A4 NM_001151.4(SLC25A4):c.*3264G>A SNV Uncertain significance 902160 GRCh37: 4:186071389-186071389
GRCh38: 4:185150235-185150235
41 SLC25A4 NM_001151.4(SLC25A4):c.*3317G>A SNV Uncertain significance 902161 GRCh37: 4:186071442-186071442
GRCh38: 4:185150288-185150288
42 SLC25A4 NM_001151.4(SLC25A4):c.*2150G>T SNV Uncertain significance 902979 GRCh37: 4:186070275-186070275
GRCh38: 4:185149121-185149121
43 SLC25A4 NM_001151.4(SLC25A4):c.*2363G>A SNV Uncertain significance 902980 GRCh37: 4:186070488-186070488
GRCh38: 4:185149334-185149334
44 SLC25A4 NM_001151.4(SLC25A4):c.*2475C>T SNV Uncertain significance 902981 GRCh37: 4:186070600-186070600
GRCh38: 4:185149446-185149446
45 SLC25A4 NM_001151.4(SLC25A4):c.*3335C>T SNV Uncertain significance 903039 GRCh37: 4:186071460-186071460
GRCh38: 4:185150306-185150306
46 SLC25A4 NM_001151.4(SLC25A4):c.*3336G>A SNV Uncertain significance 903040 GRCh37: 4:186071461-186071461
GRCh38: 4:185150307-185150307
47 SLC25A4 NM_001151.4(SLC25A4):c.*3394A>G SNV Uncertain significance 903041 GRCh37: 4:186071519-186071519
GRCh38: 4:185150365-185150365
48 SLC25A4 NM_001151.4(SLC25A4):c.742G>A (p.Asp248Asn) SNV Uncertain significance 691710 rs755597294 GRCh37: 4:186067970-186067970
GRCh38: 4:185146816-185146816
49 SLC25A4 NM_001151.4(SLC25A4):c.243C>T (p.Tyr81=) SNV Likely benign 348245 rs779064025 GRCh37: 4:186066049-186066049
GRCh38: 4:185144895-185144895
50 SLC25A4 NM_001151.4(SLC25A4):c.*277C>T SNV Benign 900373 GRCh37: 4:186068402-186068402
GRCh38: 4:185147248-185147248

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2:

72
# Symbol AA change Variation ID SNP ID
1 SLC25A4 p.Ala114Pro VAR_012111 rs104893873
2 SLC25A4 p.Val289Met VAR_012112 rs104893874
3 SLC25A4 p.Leu98Pro VAR_022459 rs104893876
4 SLC25A4 p.Asp104Gly VAR_022460 rs28999114
5 SLC25A4 p.Ala90Asp VAR_038814

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 2.

Pathways for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Pathways related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.48 SLC25A4 CYCS
2
Show member pathways
11.37 SLC25A4 DNM1
3
Show member pathways
10.71 SLC25A4 CYCS
4
Show member pathways
10.7 SOD2 CYCS
5 10.07 SOD2 CYCS

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

Biological processes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to oxidative stress GO:0006979 8.96 SOD2 RCAN1
2 cellular response to oxidative stress GO:0034599 8.62 SOD2 CYCS

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
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51 NDF-RT
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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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