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Simpson-Golabi-Behmel syndrome

A congenital X-linked recessive form of gigantism. It is also characterized by coarse FACIES, congenital heart defects, and other congenital abnormalities. It is phenotypically similar to BECKWITH-WIEDEMANN SYNDROME (OMIM: 130650). Mutations in the GPC3 gene have been identified. OMIM: 312870
Also Known As:
Bulldog syndrome; Dysplasia gigantism syndrome, X-linked; Golabi-Rosen syndrome; Mental Retardation-Overgrowth Syndrome; SGBS1; Simpson Dysplasia Syndrome; Simpson Syndrome; Simpson dysmorphia syndrome; Simpson-Golabi-Behmel Syndrome, Type 1
Networked: 120 relevant articles (0 outcomes, 7 trials/studies)

Disease Context: Research Results

Related Diseases

1. Weight Loss (Weight Reduction)
2. Inflammation (Inflammations)
3. Sotos Syndrome
4. Neoplasms (Cancer)
5. Marfan Syndrome (Marfan's Syndrome)

Experts

1. Wabitsch, Martin: 24 articles (01/2022 - 08/2007)
2. Fischer-Posovszky, Pamela: 7 articles (01/2022 - 07/2010)
3. Wabitsch, M: 5 articles (08/2022 - 12/2011)
4. Debatin, Klaus-Michael: 4 articles (10/2020 - 07/2010)
5. Filmus, Jorge: 4 articles (03/2009 - 12/2002)
6. Carluccio, Maria Annunziata: 3 articles (10/2021 - 01/2016)
7. De Caterina, Raffaele: 3 articles (10/2021 - 01/2016)
8. Massaro, Marika: 3 articles (10/2021 - 01/2016)
9. Scoditti, Egeria: 3 articles (10/2021 - 01/2016)
10. Körner, Antje: 3 articles (12/2020 - 01/2011)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Simpson-Golabi-Behmel syndrome:
1. Glucose (Dextrose)FDA LinkGeneric
2. Insulin (Novolin)FDA Link
3. Proteins (Proteins, Gene)FDA Link
4. AdipokinesIBA
5. Protein Isoforms (Isoforms)IBA
6. QuercetinIBA
7. allicinIBA
8. GlypicansIBA
9. Heparan Sulfate Proteoglycans (Heparan Sulfate Proteoglycan)IBA
10. Messenger RNA (mRNA)IBA

Therapies and Procedures

1. Liver Transplantation
2. Sutures (Suture)
3. Lasers (Laser)
4. Bone Screws