Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3
Genes related to Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3
- TK2
Clinical Features
Top most frequent phenotypes and symptoms related to Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3
- Muscle weakness
- Ptosis
- Dysarthria
- Skeletal muscle atrophy
- Dysphagia
- Myopathy
- Elevated serum creatine phosphokinase
- Proximal muscle weakness
- Facial palsy
- Ophthalmoplegia
And another 8 symptoms. If you need more information about this disease we can help you.
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 Recessive 3; Peob3 Is also known as progressive external ophthalmoplegia, autosomal recessive 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.Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3; Peob3 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 % |
TK2 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
TK2
Specificity
100 %
Genes
100 % |
TK2 Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TK2
Specificity
100 %
Genes
100 % |
TK2 Comprehensive - Sequence & Deletion/Duplication Analysis.
By Baylor Miraca Genetics Laboratories (United States).
TK2
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 % |
TK2 DNA Sequencing Test (Related to mtDNA depletion).
By Athena Diagnostics Inc (United States).
TK2
Specificity
100 %
Genes
100 % |
Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG).
By Athena Diagnostics Inc (United States).
TK2, RRM2B, POLG
Specificity
34 %
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 55 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1; HSCR1 BETA-AMINOISOBUTYRIC ACIDURIA; BAIBA AYME-GRIPP SYNDROME; AYGRP BIRDSHOT CHORIORETINOPATHY SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A AMELOGENESIS IMPERFECTA, TYPE IV; AI4 BRUGADA SYNDROME 7; BRGDA7