PEOB5
MCID: PRG134
MIFTS: 16

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 57 6
Progressive External Ophthalmoplegia, Autosomal Recessive 5 57
Peob5 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


Classifications:



External Ids:

OMIM 57 618098

Summaries for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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 bone, eye and skeletal muscle.

Description from OMIM: 618098

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

Symptoms via clinical synopsis from OMIM:

57
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:

41
Bone, Eye, Skeletal Muscle

Publications for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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 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 GRCh38 Chromosome 17, 18308367: 18308367
4 TOP3A NM_004618.4(TOP3A): c.298A> G (p.Met100Val) single nucleotide variant Pathogenic rs376902371 GRCh37 Chromosome 17, 18211681: 18211681

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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