macrosomia and Wilms tumor fetal ascites Nephroblastomatosis

An autosomal recessive congenital overgrowth syndrome with similarities to BECKWITH-WIEDEMANN SYNDROME (OMIM: 130650). Affected children are large at birth, are hypotonic, and show organomegaly, characteristic facial dysmorphisms (inverted V-shaped upper lip, prominent forehead, deep-set eyes, broad and flat nasal bridge, and low-set ears), renal anomalies (nephromegaly and HYDRONEPHROSIS), frequent neurodevelopmental delay, and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumor, with a 64% incidence in infants surviving beyond the neonatal period. Mutations in the DIS3L2 gene have been identified. OMIM: 267000

Also Known As:

Networked: 15 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Carcinogenesis
2.	Denys-Drash Syndrome
3.	Aniridia
4.	Wilms Tumor (Wilm's Tumor)
5.	Neoplasms (Cancer)

Experts

1.	Gregory, Richard I: 4 articles (01/2020 - 05/2013)
2.	Pirouz, Mehdi: 3 articles (01/2020 - 01/2016)
3.	Ebrahimi, Aref G: 2 articles (01/2020 - 01/2019)
4.	Munafò, Marzia: 2 articles (01/2019 - 01/2016)
5.	Akramov, Nail R: 1 article (05/2021)
6.	Osipova, Ilsiya V: 1 article (05/2021)
7.	Shavaliev, Rafael F: 1 article (05/2021)
8.	Arraiano, Cecilia M: 1 article (12/2020)
9.	Haime, Hope J: 1 article (12/2020)
10.	Matos, Rute G: 1 article (12/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to macrosomia and Wilms tumor fetal ascites Nephroblastomatosis:

1.	Exonucleases (3' 5' Exonuclease)IBA 04/07/2016 - "We further validate and characterize the importance of one of these, the Perlman Syndrome 3'-5' exonuclease DIS3L2. " 05/09/2013 - "A role for the Perlman syndrome exonuclease Dis3l2 in the Lin28-let-7 pathway." 01/01/2016 - "Mutations in the 3'-5' exonuclease DIS3L2 are associated with Perlman syndrome and hypersusceptibility to Wilms tumorigenesis. " 05/09/2013 - "Our study establishes 3' oligouridylation as an RNA decay signal for Dis3l2, and identifies the first physiological RNA substrate of this new exonuclease, which is mutated in the Perlman syndrome of fetal overgrowth and causes a predisposition to Wilms' tumour development." 01/01/2019 - "Here, using loss-of-function approaches in mouse embryonic stem cells (mESCs) and deep sequencing of rRNA intermediates, we investigate the requirements of exonucleases known to be involved in 5.8S maturation at nucleotide resolution and explore the role of the Perlman syndrome-associated 3'-5' exonuclease Dis3l2 in rRNA processing. "
2.	RNA (Ribonucleic Acid)IBA 05/01/2013 - "It has been postulated that the clinical features of Perlman syndrome result from disordered RNA metabolism and, though the precise targets of DIS3L2 have yet to be characterized, in cellular models DIS3L2 knockdown is associated with abnormalities of cell growth and division." 01/01/2018 - "The overall significance of 3' RNA uridylation is discussed with an emphasis on mammalian development, gene regulation, and disease, including cancer and Perlman syndrome. " 05/09/2013 - "Our study establishes 3' oligouridylation as an RNA decay signal for Dis3l2, and identifies the first physiological RNA substrate of this new exonuclease, which is mutated in the Perlman syndrome of fetal overgrowth and causes a predisposition to Wilms' tumour development." 11/15/2016 - "Here, we show that in flies, 3' terminal RNA uridylation triggers the processive, 3'-to-5' exoribonucleolytic decay via the RNase II/R enzyme CG16940, a homolog of the human Perlman syndrome exoribonuclease Dis3l2. "
3.	ExoribonucleasesIBA 12/01/2020 - "Dis3L2 is a highly conserved 3'-5' exoribonuclease which is mutated in the human overgrowth disorders Perlman syndrome and Wilms' tumour of the kidney. " 12/01/2016 - "The exosome-independent exoribonuclease DIS3L2 is mutated in Perlman syndrome. " 01/01/2020 - "The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis." 01/01/2019 - "DIS3L2, in which mutations have been linked to Perlman syndrome, is an RNA-binding protein with 3'-5' exoribonuclease activity. " 12/01/2013 - "Here, we identify the Perlman syndrome-associated protein DIS3L2 as an oligo(U)-binding and processing exoribonuclease that specifically targets uridylated pre-let-7 in vivo. "
4.	Proteins (Proteins, Gene)FDA Link 05/14/2021 - "Pediatric patients with WTl-associated syndromes (including Wilms' tumor-aniridia syndrome and Denys-Drash syndrome), Perlman syndrome, mosaic aneuploidy, and Fanconi anemia with a biallelic breast cancer type 2 susceptibility protein mutation have the highest risk of developing Wilms' tumor. " 12/01/2013 - "Here, we identify the Perlman syndrome-associated protein DIS3L2 as an oligo(U)-binding and processing exoribonuclease that specifically targets uridylated pre-let-7 in vivo. "
5.	MenogarilIBA 10/01/2018 - "Uridines are added by TUT4 and TUT7 terminal uridylyl transferases and removed by the Perlman syndrome-associated exonuclease DIS3L2. "
6.	RNA-Binding Proteins (RNA-Binding Protein)IBA 01/01/2019 - "DIS3L2, in which mutations have been linked to Perlman syndrome, is an RNA-binding protein with 3'-5' exoribonuclease activity. "
7.	TransferasesIBA 10/01/2018 - "Uridines are added by TUT4 and TUT7 terminal uridylyl transferases and removed by the Perlman syndrome-associated exonuclease DIS3L2. "
8.	NucleotidesIBA 01/01/2019 - "Here, using loss-of-function approaches in mouse embryonic stem cells (mESCs) and deep sequencing of rRNA intermediates, we investigate the requirements of exonucleases known to be involved in 5.8S maturation at nucleotide resolution and explore the role of the Perlman syndrome-associated 3'-5' exonuclease Dis3l2 in rRNA processing. "
9.	EnzymesIBA 11/15/2016 - "Here, we show that in flies, 3' terminal RNA uridylation triggers the processive, 3'-to-5' exoribonucleolytic decay via the RNase II/R enzyme CG16940, a homolog of the human Perlman syndrome exoribonuclease Dis3l2. "
10.	CalciumIBA 01/01/2020 - "The Perlman syndrome DIS3L2 exoribonuclease safeguards endoplasmic reticulum-targeted mRNA translation and calcium ion homeostasis."