POLG gene related symptoms and diseases

All the information presented here about the POLG gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, 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 POLG gene

Symptoms // Phenotype	% Cases
Peripheral neuropathy	Common - Between 50% and 80% cases
Ataxia	Common - Between 50% and 80% cases
Hearing impairment	Common - Between 50% and 80% cases
Ophthalmoplegia	Common - Between 50% and 80% cases
Seizures	Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

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

Commonly - More than 50% cases
Dysphagia
Dysarthria
Areflexia
Muscle weakness
Peripheral axonal neuropathy
Progressive external ophthalmoplegia
Myopathy
External ophthalmoplegia

And 307 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to POLG gene

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

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Alternate names

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome, polip syndrome, mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related, polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction, mngie, mngie, tymp-related

Description

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

Most common symptoms of MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Intellectual disability
Hearing impairment
Ataxia
Sensorineural hearing impairment
Muscle weakness

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

SOURCES: OMIM ORPHANET

ALPERS-HUTTENLOCHER SYNDROME

Alternate names

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome, alpers-huttenlocher syndrome, pndc, alpers progressive infantile poliodystrophy, progressive neuronal degeneration of childhood with liver disease, neuronal degeneration of childhood with liver disease, progressive, alpers diffuse degeneration

Description

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

Most common symptoms of ALPERS-HUTTENLOCHER SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about ALPERS-HUTTENLOCHER SYNDROME

SOURCES: OMIM ORPHANET

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Alternate names

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B Is also known as mngie, polg-related, mitochondrial neurogastrointestinal encephalopathy syndrome, polg-related

Description

Mitochondrial DNA depletion syndrome-4B is an autosomal recessive progressive multisystem disorder clinically characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia (PEO), axonal sensory ataxic neuropathy, and muscle weakness (van Goethem et al., 2003).For a discussion of genetic heterogeneity of autosomal recessive mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Seizures
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

SOURCES: OMIM

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

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Alternate names

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Description

Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

SOURCES: ORPHANET

SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Alternate names

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy, mscae, sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive, scae

Description

Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

Most common symptoms of SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Seizures
Hearing impairment
Ataxia
Nystagmus
Sensorineural hearing impairment

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

SOURCES: OMIM ORPHANET

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5

Alternate names

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5 Is also known as epm5, pme type 5, progressive myoclonus epilepsy type 5

Description

A rare, genetic neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and normal to mild intellectual disability. Dysarthria, upward gaze palsy, sensory neuropathy, developmental delay and autistic disorder have also been associated.

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5

SOURCES: ORPHANET

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1, adpeo

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. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

Most common symptoms of AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Intellectual disability
Seizures
Generalized hypotonia
Hearing impairment
Ataxia

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SOURCES: OMIM ORPHANET

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Alternate names

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME Is also known as miras

Description

Recessive mitochondrial ataxia syndrome is a rare, mitochondrial DNA maintenance syndrome characterized by early-onset cerebellar ataxia, and variable combination of epilepsy, headache, dysarthria, ophthalmoplegia, peripheral neuropathy, intellectual disability, psychiatric symptoms and movement disorders.

Most common symptoms of RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Seizures
Generalized hypotonia
Ataxia
Cognitive impairment
Peripheral neuropathy

More info about RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

SOURCES: ORPHANET

Search interest in POLG

Potential gene panels for POLG 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

POLG gene related symptoms and diseases

Top 5 symptoms and clinical features associated to POLG gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Rare diseases associated to POLG gene

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Alternate names

Description

Most common symptoms of MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

ALPERS-HUTTENLOCHER SYNDROME

Alternate names

Description

Most common symptoms of ALPERS-HUTTENLOCHER SYNDROME

MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

Alternate names

Description

Most common symptoms of MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE); MTDPS4B

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

Description

Most common symptoms of AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Alternate names

Description

SPINOCEREBELLAR ATAXIA WITH EPILEPSY

Alternate names

Description

Most common symptoms of SPINOCEREBELLAR ATAXIA WITH EPILEPSY

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5

Alternate names

Description

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Alternate names

Description

Most common symptoms of AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Alternate names

Description

Most common symptoms of RECESSIVE MITOCHONDRIAL ATAXIA SYNDROME

Search interest in POLG

Potential gene panels for POLG gene

MitoMet®Plus aCGH Analysis Panel

POLG Comprehensive - Sequence & Deletion/Duplication Analysis Panel

POLG Deletion/Duplication Analysis Panel

POLG Sequence Analysis (Prenatal Diagnosis) Panel

POLG Sequence Analysis Panel

mtDNA Depletion/Integrity Panel (MitomeNGS) Panel

PEO Panel (MitomeNGS) Panel

GeneAware Complete Panel Version 2 (Female) Panel

GeneAware Complete Panel Version 2 (Male) Panel

Progressive External Ophthalmoplegia Evaluation (POLG, TWINKLE, ANT1, OPA1, MELAS) Panel

Mitochondrial Hepatoencephalopathic Evaluation (POLG, DGUOK, MPV17, TWINKLE) Panel

POLG DNA Sequencing Test Panel

Common Mitochondrial Disorders Evaluation (POLG, MELAS, MERRF, NARP) Panel

POLG DNA Sequencing Test (Alpers' Syndrome) Panel

Miochondrial Encephalomyopathic Evaluation (TK2, RRM2B, POLG) Panel

MIRAS-Specific POLG1 DNA Test Panel

Ataxia, Supplemental Recessive Evaluation Panel

Ataxia, Complete Recessive Evaluation Panel

Ataxia, Comprehensive Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation Panel

Epilepsy Advanced Sequencing and CNV Evaluation - Epilepsy with Migraine Panel

NGS Epilepsy/Seizure Panel Panel

POLG1-related disorders Panel

Optic Atrophy and Early Glaucoma Panel Panel

Mitochondrial Depletion Panel Panel

Neuromuscular Disorders Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

NGS Rhabdomyolysis and Metabolic Myopathies Panel Panel

POLG-Related Disorders - Sequencing Panel

POLG-Related Disorders - Del/Dup Analysis Panel

Childhood Epilepsy Panel

Comprehensive Mitochondrial Metabolic Panel Panel

Epilepsy/Seizure Panel

Infantile Epilepsy Panel

Migraine and Strokes Panel Panel

Movement Disorders Panel Panel

Parkinson's Disease Panel

Progressive External Opthalmoplegia Panel

POLG1 Sequencing Panel