Imprinting Disorders

Disorders caused by transcriptional silencing of one parental gene allele (imprinted gene). Imprinted genes show genetic expression from only one parent of the gene pair through epigenetic processes with no change in the DNA sequence.

Also Known As:

Disease, Imprinting; Disorder, Genetic Imprinting; Disorder, Genomic Imprinting; Disorder, Imprinting; Genetic Imprinting Disorder; Genomic Imprinting Disorder; Imprinting Disease; Imprinting Disorder; Imprinting Disorder, Genetic; Imprinting Disorder, Genomic; Imprinting Syndrome; Syndrome, Imprinting; Genetic Imprinting Disorders; Genomic Imprinting Disorders; Imprinting Diseases; Imprinting Syndromes

Networked: 60 relevant articles (0 outcomes, 4 trials/studies)

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Imprinting Disorders: 60

Related Diseases

1.	Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
2.	Prader-Willi Syndrome (Syndrome, Prader-Willi)
3.	Angelman Syndrome (Syndrome, Angelman)
4.	Silver-Russell Syndrome
5.	Atherosclerosis

Experts

1.	Eggermann, Thomas: 8 articles (10/2020 - 06/2010)
2.	Begemann, Matthias: 7 articles (10/2020 - 06/2010)
3.	Butler, Merlin G: 3 articles (01/2022 - 07/2013)
4.	Eggermann, Katja: 3 articles (10/2020 - 01/2016)
5.	Riccio, Andrea: 3 articles (01/2020 - 01/2016)
6.	Russo, Silvia: 3 articles (01/2020 - 01/2016)
7.	Lapunzina, Pablo: 3 articles (10/2016 - 04/2013)
8.	Monk, David: 3 articles (10/2016 - 04/2013)
9.	Netchine, Irène: 3 articles (10/2016 - 08/2013)
10.	Soellner, Lukas: 3 articles (10/2016 - 05/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Imprinting Disorders:

1.	snRNP Core ProteinsIBA 01/01/2022 - "The findings of this diagnostic study suggest that it is feasible to screen for all chromosome 15 imprinting disorders using SNRPN methylation analysis, with 5 individuals identified with these disorders out of 16 579 infants screened." 11/26/2019 - "For this study, we examined imprinted methylation at three genes, Snrpn, Kcnq1ot1, and H19, which in humans are linked to ART-associated methylation errors that lead to imprinting disorders. " 01/01/2015 - "Remarkably, the cases with partial loss of methylation in KCNQ1OT1 and SNRPN present clinical features different to those associated with the corresponding imprinting syndromes, suggesting a multilocus methylation defect in accordance with our initial hypothesis. " 04/01/2013 - "The affected genes included Snrpn, Ube3a, Igf2, Kcnq1ot1, Cdkn1c, and Ascl2; mutations and aberrant regulation of these genes are associated with imprinting disorders in humans. " 04/01/2013 - "Our data reveal a broad range of epimutations exist in certain imprinting syndromes, with the exception of Prader-Willi syndrome and Angelman syndrome patients that are associated with solitary SNRPN-DMR defects. "
2.	SilverIBA 01/01/2019 - "Based on a large cohort of patients referred for routine Silver Russel syndrome testing, the appropriateness and limitations of first trial tests in imprinting disorders are demonstrated in this report, but the chances of genomic NGS approaches for diagnostics and research are elucidated as well. " 01/01/2023 - "Disturbances in both regions alter human growth and are associated with two imprinting disorders, Beckwith-Wiedemann (BWS) and Silver-Russell syndromes. " 10/01/2022 - "Silver-Russel syndrome (SRS) is a representative imprinting disorder (ID) characterized by growth failure and diagnosed by clinical features. " 05/01/2021 - "However, the diagnosis can be challenging due to the clinical overlap with other imprinting disorders such as Silver-Russell or Prader-Willi syndromes. " 03/01/2020 - "Prader-Willi, Angelman, Beckwith-Wiedemann, and Russell-Silver are imprinting syndromes. "
3.	Trans-Activators (Trans-Acting Factor)IBA 07/01/2013 - "Furthermore, several clinical studies have suggested a relationship between assisted reproductive technology (ART) and the risk of imprinting disorders, along with the existence of trans-acting factors that regulate multiple imprinted differentially methylated regions. "
4.	DNA (Deoxyribonucleic Acid)IBA 01/01/2022 - "Methylation tests have been used for decades in regular DNA diagnostics focusing primarily on Imprinting disorders or specific loci annotated to specific disease associated gene promotors. " 05/01/2016 - "The novel development of CRISPR-Cas9-based DNA binding domains may allow for an allele-specific editing of DNA methylation at imprinted loci, for the first time offering a rational approach for correction of the molecular defects in imprinting disorders. " 06/01/2014 - "ART procedures may affect methylation status of imprinted regions in the DNA, leading to imprinting disorders. " 10/01/2008 - "More recently there is some evidence suggesting a link between ART and epigenetic alterations leading to DNA modifications and imprinting disorders. " 10/01/2022 - "Methylation analysis for ten DMRs related to major imprinting disorders using pyrosequencing with genomic DNA (gDNA) extracted from leukocytes showed abnormally increased methylation levels of the MEG3/DLK1:IG-DMR and MEG3:TSS-DMR in both patients, but lower than those in patients with paternal uniparental disomy chromosome 14 (upd(14)pat). "
5.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Furthermore, recent insights into the epigenetic pathological mechanisms underlying human genomic imprinting disorders suggest that allele-specific expressed imprinted long non-coding RNAs serve as an upstream regulator of the expression of other protein-coding or non-coding imprinted genes in the same cluster. " 01/01/2009 - "P57 protein is implicated in some human imprinting disorders such as hydatiform mole and Beckwith-Wiedemann syndrome (BWS), both characterized by mesenchymal and vascular placental abnormalities. " 01/01/2020 - "Maternal-effect variants of the subcortical maternal complex proteins are associated with heterogeneous diseases, including female infertility, hydatidiform mole, and imprinting disorders with multi-locus imprinting disturbance. "
6.	Histones (Histone)IBA 07/01/2014 - "Furthermore, patients with DNMT3A deficiency demonstrate overgrowth, a feature common to disorders of histone machinery and imprinting disorders, highlighting the interconnectedness of the many epigenetic layers. " 12/02/2019 - "Here, we discuss DNA and histone methylation imprints, and why unravelling maintenance mechanisms is important for understanding imprinting disorders in humans." 11/01/2020 - "Inhibition of histone H3 lysine N-methyltransferase, especially G9a, has been recently shown to restore candidate genes from silenced parental chromosomes in the imprinting disorder Prader-Willi syndrome (PWS). "
7.	Small Nuclear Ribonucleoproteins (snRNP)IBA 07/01/2010 - "With our novel approach, we correctly diagnosed the imprinting disorders Prader-Willi syndrome and Angelman syndrome in 35 individuals by measuring methylation levels and copy numbers for the SNRPN (small nuclear ribonucleoprotein polypeptide N) promoter. " 01/01/2019 - "Given the higher risk of developing imprinting disorders in assisted reproductive technology (ART)-conceived children, we hypothesized that ART may affect DNA methylation of the insulin-like growth factor 2 (IGF2), H19, small nuclear ribonucleoprotein polypeptide N (SNRPN) differentially methylated regions (DMRs) at the fetal stage, which in turn may be associated with sperm abnormalities. "
8.	Peptides (Polypeptides)IBA 07/01/2010 - "With our novel approach, we correctly diagnosed the imprinting disorders Prader-Willi syndrome and Angelman syndrome in 35 individuals by measuring methylation levels and copy numbers for the SNRPN (small nuclear ribonucleoprotein polypeptide N) promoter. " 01/01/2019 - "Given the higher risk of developing imprinting disorders in assisted reproductive technology (ART)-conceived children, we hypothesized that ART may affect DNA methylation of the insulin-like growth factor 2 (IGF2), H19, small nuclear ribonucleoprotein polypeptide N (SNRPN) differentially methylated regions (DMRs) at the fetal stage, which in turn may be associated with sperm abnormalities. "
9.	NucleotidesIBA 05/01/2012 - "In comparison to other methylation-specific techniques, multilocus methylation-specific single nucleotide primer extension allows the quantitative analysis of numerous CpG islands of different loci in one assay and is, therefore, suitable for the simultaneous diagnostic testing for different congenital imprinting disorders in parallel, as well as for MLMD." 04/01/2008 - "MLPA has been broadly used to detect copy number variation from single nucleotide substitutions to several megabase nucleotide deletions/duplications to chromosomal aneuploidy, methylation pattern analysis for genetic imprinting disorders and malignant tumors, and gene expression profiles in various genetic conditions. "
10.	MethyltransferasesIBA 11/01/2020 - "Inhibition of histone H3 lysine N-methyltransferase, especially G9a, has been recently shown to restore candidate genes from silenced parental chromosomes in the imprinting disorder Prader-Willi syndrome (PWS). " 08/24/2015 - "DNA methylation, a process of adding a methyl group to DNA done by a DNA methyltransferase is a heritable (epigenetic) alteration leading to cancer, atherosclerosis, nervous disorders (Imprinting disorders), and cardiovascular diseases. "

Therapies and Procedures

1.	Therapeutics 08/01/2023 - "Novel epigenetic molecular therapies for imprinting disorders." 01/01/2020 - "This review describes major CRISPR-based epigenome editors and points out their potential use in research and therapy of rare imprinting diseases." 04/01/2006 - "Assisted reproductive therapies and imprinting disorders--a preliminary British survey." 05/01/2009 - "[Angelman syndrome--diagnosis and therapy of genomic imprinting disorders]." 01/01/2021 - "Here, we review the emerging roles of long non-coding RNAs in regulating the expression of imprinted genes, especially in human imprinting disorders, and discuss three strategies targeting the central long non-coding RNA UBE3A-ATS for the purpose of developing therapies for the imprinting disorders Prader-Willi syndrome and Angelman syndrome. "
2.	Ligation 01/01/2015 - "Imprinting disorders, such as Beckwith-Wiedemann syndrome (BWS), Prader-Willi syndrome (PWS) and Angelman syndrome (AS), can be detected via methylation analysis, methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), or other methods. "