Schinzel-Giedion syndrome

A congenital syndrome characterized by severe intellectual disability, distinctive facial features (FACIES), and multiple malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects. Affected individuals are also at higher risk for neoplasms, especially NEUROEPITHELIAL TUMORS. It is caused by mutations in the SET binding protein 1 (SETBP1) gene. OMIM: 269150

Also Known As:

Networked: 7 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Intellectual Disability (Idiocy)

Experts

1.	Mologni, Luca: 2 articles (01/2021 - 01/2013)
2.	Piazza, Rocco: 2 articles (01/2021 - 01/2013)
3.	Antonyan, Lilit: 1 article (01/2022)
4.	Ernst, Carl: 1 article (01/2022)
5.	Bagliani, Anna: 1 article (01/2021)
6.	Banfi, Federica: 1 article (01/2021)
7.	Bellini, Edoardo: 1 article (01/2021)
8.	Broccoli, Vania: 1 article (01/2021)
9.	Cancellieri, Cinzia: 1 article (01/2021)
10.	Di Resta, Chiara: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Schinzel-Giedion syndrome:

1.	Carrier Proteins (Binding Protein)IBA 01/01/2022 - "Mutations in SET BINDING PROTEIN 1 (SETBP1) cause two different clinically distinguishable diseases called Schinzel-Giedion syndrome (SGS) or SETBP1 deficiency syndrome (SDD). " 02/01/2011 - "Mutations of the SET binding protein 1 gene (SETBP1) on 18q12.3 have recently been reported to cause Schinzel-Giedion syndrome (SGS). " 09/01/2023 - "SETBP1 (SET-binding protein 1/SEB/MRD29), identified as SET-binding protein, is the causative gene of Schinzel-Giedion syndrome, which is characterized by severe intellectual disability and a distorted facial appearance. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2021 - "Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome caused by mutations in the SETBP1 gene, inducing the accumulation of its protein product. "
3.	Genetic Markers (Genetic Marker)IBA 03/01/1994 - "Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities."
4.	Codon (Codons)IBA 01/01/2013 - "Most mutations (92%) were located between codons 858 and 871 and were identical to changes seen in individuals with Schinzel-Giedion syndrome. "

Therapies and Procedures

1.	Drug Therapy (Chemotherapy) 05/01/2015 - "Intensification of chemotherapy does not seem to be feasible for tumors in patients with Schinzel-Giedion syndrome. "