PEOB5
MCID: PRG134
MIFTS: 17

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

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 Recessive 5:

Name: Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 58 76 6
Progressive External Ophthalmoplegia, Autosomal Recessive 5 58 76
Peob5 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
adult onset
one patient has been reported (last curated september 2018)


Classifications:



External Ids:

OMIM 58 618098
MeSH 45 D017246
MedGen 43 CN253818

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

UniProtKB/Swiss-Prot : 76 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 progressive external ophthalmoplegia, autosomal recessive 5. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 5 is TOP3A (DNA Topoisomerase III Alpha). Affiliated tissues include skeletal muscle.

Description from OMIM: 618098

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

Symptoms via clinical synopsis from OMIM:

58
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
cerebellar atrophy
broad-based gait
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

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...

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

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

42
Skeletal Muscle

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 Recessive 5:

76
# Symbol AA change Variation ID SNP ID
1 TOP3A p.Met100Val VAR_081105 rs376902371

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TOP3A NM_004618.4(TOP3A): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs200944917 GRCh38 Chromosome 17, 18305208: 18305208
2 TOP3A NM_004618.4(TOP3A): c.403C> T (p.Arg135Ter) single nucleotide variant Pathogenic rs200944917 GRCh37 Chromosome 17, 18208522: 18208522
3 TOP3A NM_004618.4(TOP3A): c.298A> G (p.Met100Val) single nucleotide variant Pathogenic rs376902371 GRCh37 Chromosome 17, 18211681: 18211681
4 TOP3A NM_004618.4(TOP3A): c.298A> G (p.Met100Val) single nucleotide variant Pathogenic rs376902371 GRCh38 Chromosome 17, 18308367: 18308367

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...

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10 dbSNP
11 DGIdb
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35 ICD10 via Orphanet
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63 PubMed
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70 SNOMED-CT via HPO
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72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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