MCID: PRG041
MIFTS: 17

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 5

Categories: Genetic 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 75 13 73
Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 5 29 6
Peoa5 57 75
Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 5 40
Progressive External Ophthalmoplegia, Autosomal Dominant 5 57
Progressive External Ophthalmoplegia Autosomal Dominant 5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 : 75 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 depressivity

Description from OMIM: 613077

Related Diseases for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

Symptoms via clinical synopsis from OMIM:

57
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
decreased activity of cytochrome c oxidase seen on muscle biopsy
muscle fatigue
multiple mitochondrial dna (mtdna) deletions
more
Head And Neck Ears:
hearing loss (in some patients)

Abdomen Gastrointestinal:
dysphagia (in some patients)
gastrointestinal disturbances


Clinical features from OMIM:

613077

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

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 ptosis 32 occasional (7.5%) HP:0000508
2 depressivity 32 HP:0000716
3 dysarthria 32 HP:0001260
4 dysphagia 32 occasional (7.5%) HP:0002015
5 hearing impairment 32 occasional (7.5%) HP:0000365
6 anxiety 32 occasional (7.5%) HP:0000739
7 gait ataxia 32 occasional (7.5%) HP:0002066
8 progressive external ophthalmoplegia 32 HP:0000590
9 glaucoma 32 occasional (7.5%) HP:0000501
10 hyporeflexia 32 occasional (7.5%) HP:0001265
11 exercise intolerance 32 HP:0003546
12 increased muscle fatiguability 32 HP:0003750
13 multiple mitochondrial dna deletions 32 HP:0003689

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...

Variations for Progressive External Ophthalmoplegia with Mitochondrial Dna...

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RRM2B NM_015713.4(RRM2B): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs121918310 GRCh37 Chromosome 8, 103220438: 103220438
2 RRM2B NM_015713.4(RRM2B): c.979C> T (p.Arg327Ter) single nucleotide variant Pathogenic rs121918310 GRCh38 Chromosome 8, 102208210: 102208210
3 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh37 Chromosome 8, 103220467: 103220467
4 RRM2B NM_015713.4(RRM2B): c.950delT (p.Leu317Terfs) deletion Pathogenic rs515726199 GRCh38 Chromosome 8, 102208239: 102208239
5 RRM2B NM_015713.4(RRM2B): c.965dupA (p.Asn322Lysfs) duplication Pathogenic rs515726201 GRCh37 Chromosome 8, 103220452: 103220452
6 RRM2B NM_015713.4(RRM2B): c.965dupA (p.Asn322Lysfs) duplication Pathogenic rs515726201 GRCh38 Chromosome 8, 102208224: 102208224

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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17 ExPASy
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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