PEOB5
MCID: PRG134
MIFTS: 23

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 (PEOB5)

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 Recessive 5:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 57 72 29 6
Peob5 57 12 72
Progressive External Ophthalmoplegia, Autosomal Recessive 5 57 72
Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 5 12
Autosomal Recessive Progressive External Ophthalmoplegia 5 12

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
adult onset
one patient has been reported (last curated september 2018)

Inheritance:
autosomal recessive


HPO:

31
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 5:
Inheritance autosomal recessive inheritance
Onset and clinical course adult onset


Classifications:



Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 72 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5: A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB5 features include slowly progressive ptosis, intermittent double vision, cardiac arrhythmias, exercise intolerance, proximal limb and neck muscle weakness, and cerebellar ataxia. Patients skeletal muscle biopsy show numerous COX-deficient ragged-red fibers, increased mtDNA deletions, and extensive variable mtDNA rearrangements.

MalaCards based summary : Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5, is also known as peob5. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 is TOP3A (DNA Topoisomerase III Alpha). Affiliated tissues include eye and skeletal muscle, and related phenotypes are ptosis and diplopia

Disease Ontology : 12 A chronic progressive external ophthalmoplegia that has material basis in homozygous or compound heterozygous mutation in TOP3A on chromosome 17p11.2.

More information from OMIM: 618098 PS157640

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

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

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 HP:0000508
2 diplopia 31 HP:0000651
3 dysarthria 31 HP:0001260
4 dysphagia 31 HP:0002015
5 sensorineural hearing impairment 31 HP:0000407
6 progressive external ophthalmoplegia 31 HP:0000590
7 arrhythmia 31 HP:0011675
8 dysmetria 31 HP:0001310
9 sensory neuropathy 31 HP:0000763
10 broad-based gait 31 HP:0002136
11 cerebellar atrophy 31 HP:0001272
12 proximal muscle weakness 31 HP:0003701
13 neck muscle weakness 31 HP:0000467
14 exercise intolerance 31 HP:0003546
15 nasal regurgitation 31 HP:0011469
16 abnormal left ventricular function 31 HP:0005162

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
progressive external ophthalmoplegia
double vision

Abdomen Gastrointestinal:
dysphagia

Muscle Soft Tissue:
proximal muscle weakness
exercise intolerance
cox-deficient ragged-red fibers seen on skeletal muscle biopsy
increased mtdna deletions
mtdna rearrangements

Head And Neck Nose:
nasal regurgitation

Cardiovascular Heart:
cardiac arrhythmia
impaired left ventricular function

Neurologic Central Nervous System:
dysarthria
dysmetria
broad-based gait
cerebellar atrophy
cerebellar ataxia
more
Neurologic Peripheral Nervous System:
sensory neuropathy

Head And Neck Neck:
neck muscle weakness

Head And Neck Ears:
sensorineural hearing loss

Neurologic Behavioral Psychiatric Manifestations:
cycling mood disorder

Clinical features from OMIM®:

618098 (Updated 20-May-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 Recessive 5

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

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

# Genetic test Affiliating Genes
1 Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 29 TOP3A

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

MalaCards organs/tissues related to Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5:

40
Eye, Skeletal Muscle

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

# Title Authors PMID Year
1
Topoisomerase 3α Is Required for Decatenation and Segregation of Human mtDNA. 57 6
29290614 2018

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TOP3A NM_004618.5(TOP3A):c.298A>G (p.Met100Val) SNV Pathogenic 446285 rs376902371 GRCh37: 17:18211681-18211681
GRCh38: 17:18308367-18308367
2 TOP3A NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) SNV Pathogenic 446286 rs200944917 GRCh37: 17:18208522-18208522
GRCh38: 17:18305208-18305208
3 TOP3A NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) Deletion Likely pathogenic 636247 rs1597981046 GRCh37: 17:18205214-18205215
GRCh38: 17:18301900-18301901
4 TOP3A NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) SNV Uncertain significance 636248 rs372121045 GRCh37: 17:18188610-18188610
GRCh38: 17:18285296-18285296
5 TOP3A NM_004618.5(TOP3A):c.1982G>A (p.Cys661Tyr) SNV Uncertain significance 1028282 GRCh37: 17:18186051-18186051
GRCh38: 17:18282737-18282737
6 TOP3A NM_004618.5(TOP3A):c.241-13T>G SNV Uncertain significance 1028284 GRCh37: 17:18211751-18211751
GRCh38: 17:18308437-18308437

UniProtKB/Swiss-Prot genetic disease variations for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5:

72
# Symbol AA change Variation ID SNP ID
1 TOP3A p.Met100Val VAR_081105 rs376902371

Expression for Progressive External Ophthalmoplegia with Mitochondrial Dna...

Search GEO for disease gene expression data for Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 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...

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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