MCID: PLG003
MIFTS: 19

Polg-Related Disorders

Aliases & Classifications for Polg-Related Disorders

MalaCards integrated aliases for Polg-Related Disorders:

Name: Polg-Related Disorders 25 29 6
Polg- Related Disorder 6

Summaries for Polg-Related Disorders

MalaCards based summary : Polg-Related Disorders, also known as polg- related disorder, is related to ataxia neuropathy spectrum and mitochondrial dna depletion syndrome 4a. An important gene associated with Polg-Related Disorders is POLG (DNA Polymerase Gamma, Catalytic Subunit).

GeneReviews: NBK26471

Related Diseases for Polg-Related Disorders

Diseases related to Polg-Related Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 ataxia neuropathy spectrum 31.6 TWNK POLG
2 mitochondrial dna depletion syndrome 4a 31.5 TWNK POLG
3 mitochondrial dna depletion syndrome 7 31.5 TWNK POLG
4 kearns-sayre syndrome 30.0 TWNK POLG
5 autosomal dominant progressive external ophthalmoplegia 29.9 TWNK POLG
6 chronic progressive external ophthalmoplegia 29.9 TWNK POLG
7 early myoclonic encephalopathy 29.9 TWNK POLG
8 neuropathy 29.7 TWNK POLG
9 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 29.7 TWNK POLG
10 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 4 29.7 TWNK POLG
11 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 29.7 TWNK POLG
12 axonal neuropathy 29.6 TWNK POLG
13 mitochondrial disorders 29.6 TWNK POLG
14 autosomal dominant cerebellar ataxia 29.5 TWNK POLG
15 ptosis 29.5 TWNK POLG
16 childhood myocerebrohepatopathy spectrum 11.2
17 myoclonic epilepsy myopathy sensory ataxia 11.2
18 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 10.1
19 ataxia and polyneuropathy, adult-onset 10.1
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
21 myopathy 10.1
22 phenylketonuria 10.0
23 progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 2 10.0
24 parkinsonism 10.0
25 sensorineural hearing loss 10.0
26 renal tubular acidosis 10.0
27 hypogonadism 10.0
28 lactic acidosis 10.0
29 liver disease 10.0
30 movement disease 10.0
31 cataract 10.0
32 rfc1 canvas / spectrum disorder 10.0
33 hypotonia 10.0
34 myotonic cataract 9.9 TWNK POLG
35 mitochondrial dna maintenance defects 9.9 TWNK POLG
36 mitochondrial complex iii deficiency, nuclear type 2 9.9 TWNK POLG
37 mitochondrial dna depletion syndrome 6 9.9 TWNK POLG
38 mitochondrial dna depletion syndrome 9.9 TWNK POLG
39 dysphagia 9.9 TWNK POLG
40 pearson marrow-pancreas syndrome 9.9 TWNK POLG
41 neuropathy, ataxia, and retinitis pigmentosa 9.8 TWNK POLG
42 mitochondrial dna depletion syndrome 3 9.8 TWNK POLG
43 diabetic polyneuropathy 9.8 TWNK POLG
44 mitochondrial dna depletion syndrome 4b 9.8 TWNK POLG
45 ocular motility disease 9.8 TWNK POLG
46 mitochondrial metabolism disease 9.8 TWNK POLG
47 cranial nerve disease 9.8 TWNK POLG
48 myoclonic epilepsy associated with ragged-red fibers 9.8 TWNK POLG
49 cerebellar disease 9.8 TWNK POLG
50 optic nerve disease 9.8 TWNK POLG

Graphical network of the top 20 diseases related to Polg-Related Disorders:



Diseases related to Polg-Related Disorders

Symptoms & Phenotypes for Polg-Related Disorders

Drugs & Therapeutics for Polg-Related Disorders

Search Clinical Trials , NIH Clinical Center for Polg-Related Disorders

Genetic Tests for Polg-Related Disorders

Genetic tests related to Polg-Related Disorders:

# Genetic test Affiliating Genes
1 Polg-Related Disorders 29

Anatomical Context for Polg-Related Disorders

Publications for Polg-Related Disorders

Articles related to Polg-Related Disorders:

(show top 50) (show all 86)
# Title Authors PMID Year
1
POLG-Related Disorders 61 6
20301791 2010
2
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. 25 61
18546365 2008
3
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. 25
28154168 2017
4
Arginine and citrulline for the treatment of MELAS syndrome. 25
28736735 2017
5
Homozygous TBC1D24 Mutation in a Case of Epilepsia Partialis Continua. 25
29416524 2017
6
Epilepsia partialis continua: A review. 25
28029552 2017
7
Nutritional interventions in primary mitochondrial disorders: Developing an evidence base. 25
27665271 2016
8
ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic? 25
27106809 2016
9
Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort. 25
23921535 2014
10
Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management. 25
24063850 2013
11
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. 25
23385875 2013
12
Alpers-Huttenlocher syndrome. 25
23419467 2013
13
POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria. 25
22405928 2012
14
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations. 25
21993618 2012
15
Complete Deletion of a POLG1 Allele in a Patient with Alpers Syndrome. 25
23430898 2012
16
Alpers syndrome with mutations in POLG: clinical and investigative features. 25
22000311 2011
17
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum. 25
21880868 2011
18
Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations. 25
20803213 2011
19
Application of oligonucleotide array CGH in the detection of a large intragenic deletion in POLG associated with Alpers Syndrome. 25
20708716 2011
20
The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders. 25
20558295 2010
21
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. 25
20138553 2010
22
Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. 25
19766516 2010
23
A modern approach to the treatment of mitochondrial disease. 25
19891905 2009
24
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome. 25
19501198 2009
25
De novo mutations in POLG presenting with acute liver failure or encephalopathy. 25
19252446 2009
26
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication. 25
19478085 2009
27
MtDNA mutations are a common cause of severe disease phenotypes in children with Leigh syndrome. 25
19103152 2009
28
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 25
19142996 2009
29
Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion. 25
18828154 2009
30
How can we treat mitochondrial encephalomyopathies? Approaches to therapy. 25
19019307 2008
31
Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. 25
18487244 2008
32
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase. 25
18205204 2008
33
POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease. 25
18195151 2008
34
Do carriers of POLG mutation W748S have disease manifestations? 25
17894835 2007
35
The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. 25
17438011 2007
36
Beneficial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. 25
17080429 2007
37
Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders. 25
17088268 2006
38
Mitochondrial DNA polymerase-gamma and human disease. 25
16987890 2006
39
Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma. 25
16595552 2006
40
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. 25
16621917 2006
41
Molecular diagnosis of Alpers syndrome. 25
16545482 2006
42
The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. 25
16638794 2006
43
Early-onset familial parkinsonism due to POLG mutations. 25
16634032 2006
44
POLG mutations in Alpers syndrome. 25
16177225 2005
45
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. 25
16080118 2005
46
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. 25
16024923 2005
47
Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. 25
15917273 2005
48
Biotinidase: its role in biotinidase deficiency and biotin metabolism. 25
15992688 2005
49
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. 25
15824347 2005
50
A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism. 25
15534189 2004

Variations for Polg-Related Disorders

ClinVar genetic disease variations for Polg-Related Disorders:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLG NM_002693.3(POLG):c.1399G>A (p.Ala467Thr) SNV Pathogenic 13496 rs113994095 GRCh37: 15:89870432-89870432
GRCh38: 15:89327201-89327201
2 POLG NM_002693.2(POLG):c.1721G>A (p.Arg574Gln) SNV Likely pathogenic 619321 rs764287987 GRCh37: 15:89868909-89868909
GRCh38: 15:89325678-89325678
3 POLG NM_002693.2(POLG):c.3076C>T (p.Arg1026Cys) SNV Uncertain significance 206546 rs760043525 GRCh37: 15:89862487-89862487
GRCh38: 15:89319256-89319256
4 POLG NM_002693.2(POLG):c.2665G>A (p.Ala889Thr) SNV not provided 448104 rs763393580 GRCh37: 15:89864425-89864425
GRCh38: 15:89321194-89321194
5 POLG NM_001126131.2(POLG):c.2542G>A (p.Gly848Ser) SNV not provided 13502 rs113994098 GRCh37: 15:89865023-89865023
GRCh38: 15:89321792-89321792
6 POLG NM_002693.2(POLG):c.2383A>C (p.Asn795His) SNV not provided 432080 rs1555452983 GRCh37: 15:89866016-89866016
GRCh38: 15:89322785-89322785
7 POLG NM_002693.2(POLG):c.3285C>G (p.Ser1095Arg) SNV not provided 381517 rs761649878 GRCh37: 15:89861969-89861969
GRCh38: 15:89318738-89318738
8 POLG NM_002693.2(POLG):c.803G>C (p.Gly268Ala) SNV not provided 196354 rs61752784 GRCh37: 15:89873364-89873364
GRCh38: 15:89330133-89330133

Expression for Polg-Related Disorders

Search GEO for disease gene expression data for Polg-Related Disorders.

Pathways for Polg-Related Disorders

GO Terms for Polg-Related Disorders

Cellular components related to Polg-Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial nucleoid GO:0042645 8.62 TWNK POLG

Biological processes related to Polg-Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA replication GO:0006260 9.16 TWNK POLG
2 cellular response to glucose stimulus GO:0071333 8.96 TWNK POLG
3 mitochondrial DNA replication GO:0006264 8.62 TWNK POLG

Molecular functions related to Polg-Related Disorders according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protease binding GO:0002020 8.62 TWNK POLG

Sources for Polg-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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