Aliases & Classifications for Polg-Related Disorders

MalaCards integrated aliases for Polg-Related Disorders:

Name: Polg-Related Disorders 24 29 6
Polg Related Disorders 37

External Ids:

KEGG 37 H01395

Summaries for Polg-Related Disorders

MalaCards based summary : Polg-Related Disorders, also known as polg related disorders, is related to mitochondrial dna depletion syndrome 4a and mitochondrial dna depletion syndrome 7. An important gene associated with Polg-Related Disorders is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drug Cysteamine has been mentioned in the context of this disorder.

GeneReviews: NBK26471

Related Diseases for Polg-Related Disorders

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

# Related Disease Score Top Affiliating Genes
1 mitochondrial dna depletion syndrome 4a 11.0
2 mitochondrial dna depletion syndrome 7 11.0
3 ataxia neuropathy spectrum 11.0
4 childhood myocerebrohepatopathy spectrum 11.0
5 myoclonic epilepsy myopathy sensory ataxia 11.0

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

Drugs for Polg-Related Disorders (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cysteamine Approved, Investigational Phase 2 60-23-1 6058

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2 Cysteamine Bitartrate

Search 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:

# Title Authors Year
1
Oxidative stress-induced apoptosis in peripheral blood lymphocytes from patients with POLG-related disorders. ( 27538665 )
2016
2
POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. ( 22084276 )
2011
3
POLG-Related Disorders ( 20301791 )
1993

Variations for Polg-Related Disorders

ClinVar genetic disease variations for Polg-Related Disorders:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh37 Chromosome 15, 89865023: 89865023
2 POLG NM_002693.2(POLG): c.2542G> A (p.Gly848Ser) single nucleotide variant Pathogenic rs113994098 GRCh38 Chromosome 15, 89321792: 89321792
3 POLG NM_002693.2(POLG): c.2383A> C (p.Asn795His) single nucleotide variant Likely pathogenic GRCh37 Chromosome 15, 89866016: 89866016
4 POLG NM_002693.2(POLG): c.2383A> C (p.Asn795His) single nucleotide variant Likely pathogenic GRCh38 Chromosome 15, 89322785: 89322785

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

Sources for Polg-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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