TK2 gene related symptoms and diseases

All the information presented here about the TK2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to TK2 gene

Symptoms // Phenotype	% Cases
Myopathy	Very Common - Between 80% and 100% cases
Scapular winging	Very Common - Between 80% and 100% cases
Muscle weakness	Very Common - Between 80% and 100% cases
Mitochondrial myopathy	Very Common - Between 80% and 100% cases
Ptosis	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with TK2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Progressive external ophthalmoplegia
Facial palsy
Ragged-red muscle fibers
Ophthalmoplegia
External ophthalmoplegia
Elevated serum creatine phosphokinase
Proximal muscle weakness
Progressive proximal muscle weakness

And 116 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TK2 gene

Here you will find a list of rare diseases related to the TK2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Alternate names

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form, mitochondrial dna depletion myopathy, tk2-related

Description

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Seizures
Generalized hypotonia
Hearing impairment
Muscle weakness
Muscular hypotonia

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

SOURCES: MESH OMIM ORPHANET

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo, progressive external ophthalmoplegia, autosomal recessive 1

Description

Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

Most common symptoms of AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Seizures
Hearing impairment
Ataxia
Muscle weakness
Cataract

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SOURCES: OMIM ORPHANET

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Alternate names

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3 Is also known as progressive external ophthalmoplegia, autosomal recessive 3

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Muscle weakness
Ptosis
Dysarthria
Skeletal muscle atrophy
Dysphagia

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

SOURCES: OMIM

Search interest in TK2

Potential gene panels for TK2 gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

TK2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TK2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to TK2 gene

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Alternate names

Description

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Alternate names

Most common symptoms of PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 3; PEOB3

Search interest in TK2

Potential gene panels for TK2 gene

MitoMet®Plus aCGH Analysis Panel

TK2 Sequence Analysis (Prenatal Diagnosis) Panel

TK2 Deletion/Duplication Analysis Panel

TK2 Comprehensive - Sequence & Deletion/Duplication Analysis Panel

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

TK2 DNA Sequencing Test (Related to mtDNA depletion) Panel

Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG) Panel

Mitochondrial Depletion Panel Panel

Neuromuscular Disorders Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Mitochondrial Disorders Panel (mtDNA Sequencing, Nuclear Genes Sequencing, and Deletion/Duplication) Panel

Mitochondrial DNA depletion syndrome 2 (sequence analysis of TK2 gene) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

Progressive external ophthalmoplegia (NGS panel of 12 genes) Panel

TK2 Sequence Analysis Panel

TK2-Related Mitochondrial DNA Depletion Syndrome via TK2 Gene Sequencing with CNV Detection Panel

Mitochondrial Genome Maintenance/Integrity Nuclear Genes Sequencing Panel with CNV Detection Panel

Metabolic Myopathies, Rhabdomyolysis and Exercise Intolerance Sequencing Panel Panel

Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel

TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form Panel

Kearns Sayre syndrome Panel

Mitochondrial Depletion Panel

Combined Respiratory Chain Defects Panel

Neurogenetic Disorders - panels Panel

Mitochondrial Encephalopathy / Leigh Syndrome – Basic Diagnostic Panel

Epilepsy and Mitochondrial Encephalopathy Panel

Mitochondrial Diseases Panel

Mitochondrial Myopathy Panel

Mitochondriopathy – Chronic Progressive External Ophthalmoplegia (CPEO) Panel

Mitochondrial Encephalopathy Panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Epilepsy Panel

Muscle Weakness Manifesting in Adulthood / Limb-Girdle Muscular Dystrophy (AD and AR) Panel

Mitochondrial DNA depletion syndrome Panel

Comprehensive mitochondrial disorders panel Panel

Mitochondrial dysfunctions panel Panel

AllNeuro panel Panel

Mitochondrial DNA depletion syndrome Panel

Comprehensive mtDNA Depletion Syndromes NGS Panel Panel

Congenital and Distal Myopathies Panel Panel

Nuclear encoded Mitochondriopathies Panel Panel

Single gene testing TK2 Panel

TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form Panel

Mitochondrial Diseases (mtDNA and 133 nuclear genes) Panel

Metabolic Myopathy and Rhabdomyolysis Panel

TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form Panel

Lactic Acidosis-Pyruvate NGS Panel Panel

Myopathy-Rhabdomyolysis NGS Panel Panel

Mitochondrial DNA Depletion Syndromes NGS Panel Panel

Nuclear-Mito NGS Panel Panel

mtDNA Depletion Syndrome NGS Panel Panel

TK2 Panel

Neuro-Ophthalmology Panel Panel

Arthrogryposes Panel Panel

Comprehensive Metabolism Panel Panel

Metabolic Myopathy and Rhabdomyolysis Panel Panel

Mitochondrial DNA Depletion Syndrome Panel Panel

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Panel

Mitochondrial DNA Depletion Syndrome , Panel Massive Sequencing (NGS) 14 Genes Panel

TK2-Related Mitochondrial DNA Depletion Syndrome, Myopathic Form: gene sequencing Panel