neonatal Progeroid syndrome

A rare syndrome characterized by prenatal growth redardation, a failure to thrive, short stature, premature ageing (progeria), hypotonia, and intellectual disability. OMIM: 264090

Also Known As:

Networked: 10 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Progeria (Hutchinson Gilford Syndrome)
2.	Marfan Syndrome (Marfan's Syndrome)
3.	Lipodystrophy
4.	Anemia

Experts

1.	Arboleda, Gonzalo: 2 articles (12/2020 - 12/2009)
2.	Arboleda, Humberto: 2 articles (12/2020 - 12/2009)
3.	Bozgeyik, Ibrahim: 1 article (05/2022)
4.	Ovali, Mehmet Akif: 1 article (05/2022)
5.	Arboleda-Bustos, Carlos E: 1 article (12/2020)
6.	Báez-Becerra, Cindy Tatiana: 1 article (12/2020)
7.	Guevara, Claudia: 1 article (12/2020)
8.	Gutiérrez-Ospina, Gabriel: 1 article (12/2020)
9.	Olivos-Cisneros, Leonora: 1 article (12/2020)
10.	Ramírez-Suárez, Nelson J: 1 article (12/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to neonatal Progeroid syndrome:

1.	Hormones (Hormone)IBA 01/01/2020 - "Genetic studies of patients with neonatal progeroid syndrome led to the discovery of the novel fasting-induced, glucogenic, and orexigenic hormone named asprosin, the C-terminal cleavage product of profibrillin. " 05/01/2022 - "Asprosin is a novel fasting-induced, glucogenic, and orexigenic protein hormone that is discovered with the help of genetic studies in patients with neonatal progeroid syndrome. " 05/01/1997 - "Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome."
2.	Proteins (Proteins, Gene)FDA Link 05/01/2022 - "Asprosin is a novel fasting-induced, glucogenic, and orexigenic protein hormone that is discovered with the help of genetic studies in patients with neonatal progeroid syndrome. " 01/01/2020 - "Given the important role of POLR3GL in the same complex as the protein implicated in neonatal progeroid syndrome, the nature of the variant identified, our RNA studies suggesting nonsense-mediated decay, and the clinical overlap, we propose POLR3GL as a gene causing a variant of neonatal progeroid syndrome and therefore expand the phenotype associated with POLR3GL variants."
3.	RNA (Ribonucleic Acid)IBA 01/01/2020 - "Given the important role of POLR3GL in the same complex as the protein implicated in neonatal progeroid syndrome, the nature of the variant identified, our RNA studies suggesting nonsense-mediated decay, and the clinical overlap, we propose POLR3GL as a gene causing a variant of neonatal progeroid syndrome and therefore expand the phenotype associated with POLR3GL variants."
4.	Lamin Type A (Lamin A)IBA 12/01/2009 - "Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients."
5.	RNA Precursors (Precursor, mRNA)IBA 01/01/2022 - "A synonymous variant contributes to a rare Wiedemann-Rautenstrauch syndrome complicated with mild anemia via affecting pre-mRNA splicing."
6.	RNA Polymerase IIIIBA 12/01/2020 - "Recently, mutations in the RNA polymerase III subunit A (POLR3A) have been described as the cause of the neonatal progeria or Wiedemann-Rautenstrauch syndrome (WRS). "
7.	LipidsIBA 05/01/1997 - "Disturbance in bone maturation and lipid and hormone metabolism appear to be involved in this neonatal progeroid syndrome."
8.	Anesthetics (Anesthetic Agents)IBA 11/15/2015 - "Here, we present the successful anesthetic management of a 6-month-old male infant with neonatal progeroid syndrome operated on for bilateral inguinoscrotal swellings. "
9.	Fibrillin-1IBA 06/01/2020 - "Mutations in the fibrillin-1 gene lead to adipose tissue dysfunction and causes Marfan syndrome, marfanoid progeroid lipodystrophy syndrome, and neonatal progeroid syndrome. "

Therapies and Procedures

1.	Sutures (Suture) 05/01/2017 - "Wiedemann-Rautenstrauch Syndrome With Bilateral Tarsal Kink: Three Sutures for Correction."
2.	Anesthesia 11/15/2015 - "Anesthesia in an Aging Infant: Neonatal Progeroid Syndrome."