Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5; Peoa5

Clinical Features

Top most frequent phenotypes and symptoms related to Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5; Peoa5

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue
  • Dysphagia
  • Myopathy
  • Depressivity
  • Hyporeflexia
  • Glaucoma

And another 10 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5; Peoa5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5.

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.

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5; Peoa5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®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 %
RRM2B Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
100 %
RRM2B Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
100 %
RRM2B Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
Genes
100 %
RRM2B Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

RRM2B
Specificity
100 %
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 %
Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Evaluation (TYMP, RRM2B, MELAS).

By Athena Diagnostics Inc (United States).

RRM2B, TYMP, MT-TL1
Specificity
34 %
Genes
100 %

You can get up to 66 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEVUS COMEDONICUS; NC PARASTREMMATIC DWARFISM LEGG-CALVE-PERTHES DISEASE; LCPD HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE); MTDPS13 LOEYS-DIETZ SYNDROME 5; LDS5 HOLOPROSENCEPHALY 2; HPE2