PEOA5
MCID: PRG041
MIFTS: 26

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 (PEOA5)

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 5:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 57
Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 5 72 13 70
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 5 12 29 6
Peoa5 57 12 72
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 5 39
Progressive External Ophthalmoplegia, Autosomal Dominant 5 57
Autosomal Dominant Progressive External Ophthalmoplegia 5 12
Progressive External Ophthalmoplegia Autosomal Dominant 5 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in second decade or as young adult
autosomal recessive inheritance with earlier onset has been suggested


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 5:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 72 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5: 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.

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5, is also known as progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 5. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5 is RRM2B (Ribonucleotide Reductase Regulatory TP53 Inducible Subunit M2B). Related phenotypes are ptosis and dysphagia

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in heterozygous mutation in RRM2B on chromosome 8q22.3.

More information from OMIM: 613077 PS157640

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

Human phenotypes related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5:

31 (show all 14)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 dysphagia 31 occasional (7.5%) HP:0002015
3 hearing impairment 31 occasional (7.5%) HP:0000365
4 anxiety 31 occasional (7.5%) HP:0000739
5 glaucoma 31 occasional (7.5%) HP:0000501
6 hyporeflexia 31 occasional (7.5%) HP:0001265
7 gait ataxia 31 occasional (7.5%) HP:0002066
8 depressivity 31 HP:0000716
9 dysarthria 31 HP:0001260
10 myopathy 31 HP:0003198
11 progressive external ophthalmoplegia 31 HP:0000590
12 increased muscle fatiguability 31 HP:0003750
13 exercise intolerance 31 HP:0003546
14 multiple mitochondrial dna deletions 31 HP:0003689

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
gait ataxia (in some patients)

Head And Neck Eyes:
external ophthalmoplegia, progressive (peo)
ptosis (in some patients)
glaucoma (uncommon)

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in some patients)
depression (in some patients)

Neurologic Peripheral Nervous System:
hyporeflexia (rare)

Muscle Soft Tissue:
exercise intolerance
ragged red fibers
multiple mitochondrial dna (mtdna) deletions
decreased activity of cytochrome c oxidase seen on muscle biopsy
muscle fatigue
more
Head And Neck Ears:
hearing loss (in some patients)

Abdomen Gastrointestinal:
dysphagia (in some patients)
gastrointestinal disturbances

Clinical features from OMIM®:

613077 (Updated 05-Apr-2021)

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 5

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

Genetic tests related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5:

# Genetic test Affiliating Genes
1 Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 5 29 RRM2B

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

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Articles related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5:

# Title Authors PMID Year
1
RRM2B mutations are frequent in familial PEO with multiple mtDNA deletions. 6 57
21646632 2011
2
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. 6 57
19664747 2009
3
Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia. 57
21951382 2011

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

ClinVar genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5:

6 (show top 50) (show all 83)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RRM2B NM_001172477.1(RRM2B):c.1181dup (p.Asn394fs) Duplication Pathogenic 30433 rs515726201 GRCh37: 8:103220451-103220452
GRCh38: 8:102208223-102208224
2 RRM2B NM_001172477.1(RRM2B):c.1166del (p.Ser388_Leu389insTer) Deletion Pathogenic 30432 rs515726199 GRCh37: 8:103220467-103220467
GRCh38: 8:102208239-102208239
3 RRM2B NM_001172477.1(RRM2B):c.1195C>T (p.Arg399Ter) SNV Pathogenic 5391 rs121918310 GRCh37: 8:103220438-103220438
GRCh38: 8:102208210-102208210
4 RRM2B NM_015713.5(RRM2B):c.*895G>A SNV Uncertain significance 909862 GRCh37: 8:103219466-103219466
GRCh38: 8:102207238-102207238
5 RRM2B NM_015713.5(RRM2B):c.*3577G>T SNV Uncertain significance 909664 GRCh37: 8:103216784-103216784
GRCh38: 8:102204556-102204556
6 RRM2B NM_015713.5(RRM2B):c.*2885A>G SNV Uncertain significance 910647 GRCh37: 8:103217476-103217476
GRCh38: 8:102205248-102205248
7 RRM2B NM_015713.5(RRM2B):c.*1664T>A SNV Uncertain significance 910701 GRCh37: 8:103218697-103218697
GRCh38: 8:102206469-102206469
8 RRM2B NC_000008.11:g.102239067C>G SNV Uncertain significance 909969 GRCh37: 8:103251295-103251295
GRCh38: 8:102239067-102239067
9 RRM2B NM_015713.5(RRM2B):c.*3473A>G SNV Uncertain significance 910591 GRCh37: 8:103216888-103216888
GRCh38: 8:102204660-102204660
10 RRM2B NM_015713.5(RRM2B):c.*2728G>A SNV Uncertain significance 911873 GRCh37: 8:103217633-103217633
GRCh38: 8:102205405-102205405
11 RRM2B NM_015713.5(RRM2B):c.*1552T>C SNV Uncertain significance 911923 GRCh37: 8:103218809-103218809
GRCh38: 8:102206581-102206581
12 RRM2B NM_015713.5(RRM2B):c.*1522A>G SNV Uncertain significance 911924 GRCh37: 8:103218839-103218839
GRCh38: 8:102206611-102206611
13 RRM2B NM_015713.5(RRM2B):c.*1510T>C SNV Uncertain significance 908996 GRCh37: 8:103218851-103218851
GRCh38: 8:102206623-102206623
14 RRM2B NM_015713.5(RRM2B):c.*485A>C SNV Uncertain significance 909055 GRCh37: 8:103219876-103219876
GRCh38: 8:102207648-102207648
15 RRM2B NM_001172477.1(RRM2B):c.*3289A>G SNV Uncertain significance 361130 rs569359604 GRCh37: 8:103217072-103217072
GRCh38: 8:102204844-102204844
16 RRM2B NM_001172477.1(RRM2B):c.*328G>A SNV Uncertain significance 361171 rs142449540 GRCh37: 8:103220033-103220033
GRCh38: 8:102207805-102207805
17 RRM2B NM_001172477.1(RRM2B):c.*869G>T SNV Uncertain significance 361164 rs771055735 GRCh37: 8:103219492-103219492
GRCh38: 8:102207264-102207264
18 RRM2B NM_001172477.1(RRM2B):c.*2960G>A SNV Uncertain significance 361136 rs886062561 GRCh37: 8:103217401-103217401
GRCh38: 8:102205173-102205173
19 RRM2B NM_015713.5(RRM2B):c.*3250G>C SNV Uncertain significance 908867 GRCh37: 8:103217111-103217111
GRCh38: 8:102204883-102204883
20 RRM2B NM_015713.5(RRM2B):c.*3118T>G SNV Uncertain significance 908868 GRCh37: 8:103217243-103217243
GRCh38: 8:102205015-102205015
21 RRM2B NM_015713.5(RRM2B):c.*1451A>C SNV Uncertain significance 908997 GRCh37: 8:103218910-103218910
GRCh38: 8:102206682-102206682
22 RRM2B NM_015713.5(RRM2B):c.*1337G>C SNV Uncertain significance 908998 GRCh37: 8:103219024-103219024
GRCh38: 8:102206796-102206796
23 RRM2B NM_015713.5(RRM2B):c.*436A>G SNV Uncertain significance 909056 GRCh37: 8:103219925-103219925
GRCh38: 8:102207697-102207697
24 RRM2B NM_015713.5(RRM2B):c.162A>G (p.Lys54=) SNV Uncertain significance 909123 GRCh37: 8:103244419-103244419
GRCh38: 8:102232191-102232191
25 RRM2B NM_015713.5(RRM2B):c.-1G>C SNV Uncertain significance 909124 GRCh37: 8:103251103-103251103
GRCh38: 8:102238875-102238875
26 RRM2B NM_015713.5(RRM2B):c.*2995A>T SNV Uncertain significance 909724 GRCh37: 8:103217366-103217366
GRCh38: 8:102205138-102205138
27 RRM2B NM_015713.5(RRM2B):c.*2991C>T SNV Uncertain significance 909725 GRCh37: 8:103217370-103217370
GRCh38: 8:102205142-102205142
28 RRM2B NM_001172477.1(RRM2B):c.*552G>A SNV Uncertain significance 361170 rs375924434 GRCh37: 8:103219809-103219809
GRCh38: 8:102207581-102207581
29 RRM2B NM_001172477.1(RRM2B):c.*2809G>A SNV Uncertain significance 361139 rs886062562 GRCh37: 8:103217552-103217552
GRCh38: 8:102205324-102205324
30 RRM2B NM_001172477.1(RRM2B):c.*2722A>G SNV Uncertain significance 361140 rs543127762 GRCh37: 8:103217639-103217639
GRCh38: 8:102205411-102205411
31 RRM2B NM_001172477.1(RRM2B):c.*855C>G SNV Uncertain significance 361166 rs886062567 GRCh37: 8:103219506-103219506
GRCh38: 8:102207278-102207278
32 RRM2B NM_001172477.1(RRM2B):c.*2410C>A SNV Uncertain significance 361146 rs767476703 GRCh37: 8:103217951-103217951
GRCh38: 8:102205723-102205723
33 RRM2B NM_001172477.1(RRM2B):c.*3266G>T SNV Uncertain significance 361131 rs746260787 GRCh37: 8:103217095-103217095
GRCh38: 8:102204867-102204867
34 RRM2B NM_001172477.1(RRM2B):c.719A>G (p.Lys240Arg) SNV Uncertain significance 361180 rs886062571 GRCh37: 8:103236321-103236321
GRCh38: 8:102224093-102224093
35 RRM2B NM_001172477.1(RRM2B):c.*247G>A SNV Uncertain significance 361172 rs886062568 GRCh37: 8:103220114-103220114
GRCh38: 8:102207886-102207886
36 RRM2B NM_001172477.1(RRM2B):c.*2513T>C SNV Uncertain significance 361144 rs866323859 GRCh37: 8:103217848-103217848
GRCh38: 8:102205620-102205620
37 RRM2B NM_001172477.1(RRM2B):c.*73A>T SNV Uncertain significance 361174 rs886062570 GRCh37: 8:103220288-103220288
GRCh38: 8:102208060-102208060
38 RRM2B NM_001172477.1(RRM2B):c.*2978A>G SNV Uncertain significance 361135 rs761021253 GRCh37: 8:103217383-103217383
GRCh38: 8:102205155-102205155
39 RRM2B NM_001172477.1(RRM2B):c.*1717T>A SNV Uncertain significance 361155 rs886062566 GRCh37: 8:103218644-103218644
GRCh38: 8:102206416-102206416
40 RRM2B NM_001172477.1(RRM2B):c.*3125T>C SNV Uncertain significance 361132 rs886062560 GRCh37: 8:103217236-103217236
GRCh38: 8:102205008-102205008
41 RRM2B NM_001172477.1(RRM2B):c.*788T>C SNV Uncertain significance 361168 rs559700946 GRCh37: 8:103219573-103219573
GRCh38: 8:102207345-102207345
42 RRM2B NM_001172477.1(RRM2B):c.972G>A (p.Arg324=) SNV Likely benign 361178 rs377736828 GRCh37: 8:103226315-103226315
GRCh38: 8:102214087-102214087
43 RRM2B NM_001172477.1(RRM2B):c.760A>G (p.Thr254Ala) SNV Likely benign 215088 rs147315735 GRCh37: 8:103236280-103236280
GRCh38: 8:102224052-102224052
44 RRM2B NC_000008.11:g.102238975C>T SNV Benign 909125 GRCh37: 8:103251203-103251203
GRCh38: 8:102238975-102238975
45 RRM2B NM_001172477.1(RRM2B):c.423C>T (p.Val141=) SNV Benign 138929 rs28999710 GRCh37: 8:103238260-103238260
GRCh38: 8:102226032-102226032
46 RRM2B NM_001172477.1(RRM2B):c.756A>G (p.Lys252=) SNV Benign 361179 rs200301242 GRCh37: 8:103236284-103236284
GRCh38: 8:102224056-102224056
47 RRM2B NM_001172477.1(RRM2B):c.*11G>A SNV Benign 361175 rs29000285 GRCh37: 8:103220350-103220350
GRCh38: 8:102208122-102208122
48 RRM2B NM_015713.4(RRM2B):c.-153G>T SNV Benign 361183 rs2290707 GRCh37: 8:103251255-103251255
GRCh38: 8:102239027-102239027
49 RRM2B NM_001172477.1(RRM2B):c.1006-8C>A SNV Benign 138930 rs376542259 GRCh37: 8:103225125-103225125
GRCh38: 8:102212897-102212897
50 RRM2B NM_015713.5(RRM2B):c.*1867C>T SNV Benign 909797 GRCh37: 8:103218494-103218494
GRCh38: 8:102206266-102206266

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 5.

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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10 dbSNP
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56 OMIM via Orphanet
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71 UMLS via Orphanet
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