MCID: PLG003
MIFTS: 15

Polg-Related Disorders malady

Category: Genetic diseases (common)

Aliases & Classifications for Polg-Related Disorders

About this section

Aliases & Descriptions for Polg-Related Disorders:

Name: Polg-Related Disorders 21 22 24

Classifications:



Summaries for Polg-Related Disorders

About this section
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 (Polymerase (DNA) Gamma, Catalytic Subunit), and among its related pathways is Chks in Checkpoint Regulation. Affiliated tissues include monocytes.

GeneReviews summary for NBK26471

Related Diseases for Polg-Related Disorders

About this section

Graphical network of diseases related to Polg-Related Disorders:



Diseases related to polg-related disorders

Symptoms for Polg-Related Disorders

About this section

Drugs & Therapeutics for Polg-Related Disorders

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32360-23-16058
Synonyms:
(2-Mercaptoethyl)amine
(Mercaptoethyl)ammonium toluene-p-sulphonate
.beta.-Mercaptoethylamine
1-Amino-2-mercaptoethylamine
139720-70-0
156-57-0 (hydrochloride)
16904-32-8 (di-hydrochloride)
2-AMINO-ETHANETHIOL
2-AMINO-ethanethiol
2-Amino-1-ethanethiol
2-Aminoethanethiol
2-Aminoethyl mercaptan
2-Mercaptoethanamine
2-Mercaptoethylamine
2-Mercaptoethylamine, polymer-bound
27761-19-9 (tartrate (1:1))
2DFDA1F8-7010-4225-8280-AB1C4C43F546
30070_FLUKA
30070_SIGMA
3037-04-5
3037-04-5 (tosylate)
42954-15-4 (hydrobromide)
60-23-1
60-23-1 (Parent)
641022_ALDRICH
93965-19-6 (maleate (1:1))
A0648
AC1L1LPL
AC1Q54NL
AKOS003793343
Aminoethyl mercaptan
Becaptan
C-9500
C01678
C2H7NS
CASH
CCRIS 3083
CHEBI:17141
CHEMBL602
CID6058
CYSTEAMINE
Cisteamina
Cisteamina [Italian]
Cystagon
Cystaran
Cystavision
Cysteamide
Cysteamin
Cysteamine
Cysteamine (USAN)
Cysteamine Bitartrate
Cysteamine Hydrochloride
Cysteamine [USAN:BAN]
Cysteamine bitartate
Cysteamine hydrochloride
Cysteaminium
Cysteinamine
D03634
DB00847
 
Decarboxycysteine
DivK1c_006750
EINECS 200-463-0
EINECS 221-235-7
Ethanethiolamine
HSDB 7353
KBio1_001694
KBio2_002235
KBio2_004803
KBio2_007371
KBioSS_002235
L 1573
L-1573
LS-65761
Lambraten
Lambratene
Lopac-M-6500
M9768_ALDRICH
M9768_SIGMA
MEA
MEA (mercaptan)
Mecramine
Mercamin
Mercamine
Mercaptamin
Mercaptamina
Mercaptamina [INN-Spanish]
Mercaptamine
Mercaptamine (INN)
Mercaptaminum
Mercaptaminum [INN-Latin]
Mercaptoethylamine
Merkamin
MolPort-001-662-635
NCGC00015691-01
NCGC00015691-04
NCGC00162236-01
NCI60_002000
NSC 647528
NSC647528
Riacon
STK315355
SpecPlus_000654
Spectrum_001755
Thioethanolamine
UNII-5UX2SD1KE2
WR 347
b-Aminoethanethiol
b-Aminoethylthiol
b-Mercaptoethylamine
beta-Aminoethanethiol
beta-Aminoethylthiol
beta-MEA
beta-Mercaptoethylamine
bmse000388
cysteamine bitartrate
nchembio.315-comp1
nchembio.316-comp1
╬▓-MEA
╬▓-aminoethylthiol

Interventional clinical trials:

idNameStatusNCT IDPhase
1Open-Label, Dose-Escalating Study to Assess Safety, Tolerability, Efficacy, PK and PD of RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02023866Phase 2, Phase 3
2A Long-Term Extension Study of RP103-MITO-001 to Assess RP103 in Children With Inherited Mitochondrial DiseaseEnrolling by invitationNCT02473445Phase 2

Search NIH Clinical Center for Polg-Related Disorders

Genetic Tests for Polg-Related Disorders

About this section

Genetic tests related to Polg-Related Disorders:

id Genetic test Affiliating Genes
1 Polg-Related Disorders22 POLG

Anatomical Context for Polg-Related Disorders

About this section

MalaCards organs/tissues related to Polg-Related Disorders:

33
Monocytes

Animal Models for Polg-Related Disorders or affiliated genes

About this section

MGI Mouse Phenotypes related to Polg-Related Disorders:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Polg-Related Disorders

About this section

Articles related to Polg-Related Disorders:

idTitleAuthorsYear
1
POLG-related disorders: defects of the nuclear and mitochondrial genome interaction. (22084276)
2011
2
POLG-Related Disorders (20301791)
1993

Variations for Polg-Related Disorders

About this section

Expression for genes affiliated with Polg-Related Disorders

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

Pathways for genes affiliated with Polg-Related Disorders

About this section

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

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1C10orf2, POLG

GO Terms for genes affiliated with Polg-Related Disorders

About this section

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

idNameGO IDScoreTop Affiliating Genes
1DNA replicationGO:00062609.1C10orf2, POLG

Sources for Polg-Related Disorders

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet