MCID: PLG003
MIFTS: 15

Polg-Related Disorders malady

Genetic diseases (common) category

Aliases & Classifications for Polg-Related Disorders

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Aliases & Descriptions for Polg-Related Disorders:

Name: Polg-Related Disorders 21 22


Classifications:



Summaries for Polg-Related Disorders

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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 Directed), Gamma).

GeneReviews summary for alpers

Related Diseases for Polg-Related Disorders

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Graphical network of diseases related to Polg-Related Disorders:



Diseases related to polg-related disorders

Symptoms for Polg-Related Disorders

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Drugs & Therapeutics for Polg-Related Disorders

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Cysteamineapproved, investigationalPhase 2, Phase 32260-23-16058
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
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
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

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Genetic tests related to Polg-Related Disorders:

id Genetic test Affiliating Genes
1 Polg-Related Disorders22 POLG

Anatomical Context for Polg-Related Disorders

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Animal Models for Polg-Related Disorders or affiliated genes

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MGI Mouse Phenotypes related to Polg-Related Disorders:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Polg-Related Disorders

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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

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Expression for genes affiliated with Polg-Related Disorders

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

Pathways for genes affiliated with Polg-Related Disorders

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GO Terms for genes affiliated with Polg-Related Disorders

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

idNameGO IDScoreTop Affiliating Genes
1mitochondrial nucleoidGO:00426459.1C10orf2, POLG

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to glucose stimulusGO:00713339.2C10orf2, POLG
2DNA replicationGO:00062609.1C10orf2, POLG
3mitochondrial DNA replicationGO:00062648.8C10orf2, POLG

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

idNameGO IDScoreTop Affiliating Genes
1protease bindingGO:00020209.1C10orf2, POLG

Sources for Polg-Related Disorders

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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