Aliases & Classifications for Polg-Related Disorders

MalaCards integrated aliases for Polg-Related Disorders:

Name: Polg-Related Disorders 23 28
Polg Related Disorders 36

External Ids:

KEGG 36 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 11.1
2 mitochondrial dna depletion syndrome 7 11.1
3 ataxia neuropathy spectrum 11.1
4 childhood myocerebrohepatopathy spectrum 11.1
5 myoclonic epilepsy myopathy sensory ataxia 11.1

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 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2 Cysteamine Bitartrate Delayed-release Capsules
2 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 28

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

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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