Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4; Peoa4

Description

Progressive external ophthalmoplegia-4 is an autosomal dominant form of mitochondrial disease that variably affects skeletal muscle, the nervous system, the liver, and the gastrointestinal tract. Age at onset ranges from infancy to adulthood. The phenotype ranges from relatively mild, with adult-onset skeletal muscle weakness and weakness of the external eye muscles, to severe, with a multisystem disorder characterized by delayed psychomotor development, lactic acidosis, constipation, and liver involvement (summary by Young et al., 2011).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4; Peoa4

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Pain
  • Ptosis
  • Respiratory insufficiency
  • Blindness
  • Cerebellar atrophy

And another 29 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.)
No data available about the known clinical features onset.

Alternative names

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4; Peoa4 Is also known as progressive external ophthalmoplegia, autosomal dominant 4.

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 4; Peoa4 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
POLG2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POLG2
Specificity
100 %
Genes
100 %
POLG2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POLG2
Specificity
100 %
Genes
100 %
POLG2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

POLG2
Specificity
100 %
Genes
100 %
POLG2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

POLG2
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 Depletion Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SLC25A4, SPG7, SUCLA2, SUCLG1, TWNK, TFAM, TK2, FBXL4, APTX, MGME1, MFN2, RRM2B, AGK, ABAT, DGUOK, DNA2, TYMP, GFER, MPV17, OPA1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

You can get up to 46 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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