MCID: PLG003
MIFTS: 19

Polg-Related Disorders malady

Categories: Genetic diseases

Aliases & Classifications for Polg-Related Disorders

Aliases & Descriptions for Polg-Related Disorders:

Name: Polg-Related Disorders 23 24 29

Classifications:



Summaries for Polg-Related Disorders

MalaCards based summary : Polg-Related Disorders is related to mitochondrial dna depletion syndrome 4a and childhood myocerebrohepatopathy spectrum disorders. 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. Related phenotype is Negative genetic interaction between MUS81-/- and MUS81+/+.

GeneReviews: NBK26471

Related Diseases for Polg-Related Disorders

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



Diseases related to Polg-Related Disorders

Symptoms & Phenotypes for Polg-Related Disorders

GenomeRNAi Phenotypes related to Polg-Related Disorders according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Negative genetic interaction between MUS81-/- and MUS81+/+ GR00255-A-2 8.62 POLG TWNK

Drugs & Therapeutics for Polg-Related Disorders

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


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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Open-Label, Dose-Escalating Study Assessing Safety, Tolerability, Efficacy, of RP103 in Mitochondrial Disease Completed NCT02023866 Phase 2
2 A Long-Term Extension Study of RP103-MITO-001 (NCT02023866) to Assess RP103 in Children With Inherited Mitochondrial Disease Completed NCT02473445 Phase 2

Search NIH Clinical Center for Polg-Related Disorders

Genetic Tests for Polg-Related Disorders

Genetic tests related to Polg-Related Disorders:

id Genetic test Affiliating Genes
1 Polg-Related Disorders 29 24 POLG

Anatomical Context for Polg-Related Disorders

Publications for Polg-Related Disorders

Articles related to Polg-Related Disorders:

id 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

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:

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

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

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

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

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

Sources for Polg-Related Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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