Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3; Peoa3

Description

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

Clinical Features

Top most frequent phenotypes and symptoms related to Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3; Peoa3

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Cataract
  • Ptosis

And another 73 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including late onset, late onset, late onset, and late onset .

Alternative names

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3; Peoa3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3; Peoa3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
C10orf2 (TWINKLE) Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TWNK
Specificity
100 %
Genes
100 %
C10orf2 (TWINKLE) Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TWNK
Specificity
100 %
Genes
100 %
C10orf2 (TWINKLE) Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

TWNK
Specificity
100 %
Genes
100 %
C10orf2 (TWINKLE) Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

TWNK
Specificity
100 %
Genes
100 %
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
mtDNA Depletion/Integrity Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, SUCLA2, SUCLG1, SUCLG2, TWNK, TK2, MGME1, RRM2B, DGUOK, TYMP, MPV17, OPA1, OPA3, POLG, POLG2
Specificity
7 %
Genes
100 %
PEO Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC25A4, TWNK, MGME1, RRM2B, OPA1, OPA3, POLG, POLG2
Specificity
13 %
Genes
100 %
Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS).

By Athena Diagnostics Inc (United States).

SLC25A4, TWNK, MT-TL1, OPA1, POLG
Specificity
20 %
Genes
100 %

We have 93 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Symptoms Checker

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