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Gerodermia osteodysplastica

Also Known As:
Geroderma Osteodysplasticum; Geroderma osteodysplastica; Geroderma osteodysplastica hereditaria; Walt Disney dwarfism
Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Dentofacial Deformities
2. Congenital Disorders of Glycosylation
3. Menkes Kinky Hair Syndrome (Menkes Disease)
4. Ehlers-Danlos Syndrome (Syndrome, Ehlers-Danlos)
5. Cutis Laxa

Experts

1. Kornak, Uwe: 3 articles (10/2019 - 12/2008)
2. Chan, Wing Lee: 2 articles (10/2019 - 01/2018)
3. Lowe, Martin: 2 articles (10/2019 - 01/2018)
4. Tassabehji, May: 2 articles (10/2019 - 12/2008)
5. Egerer, Johannes: 2 articles (01/2018 - 12/2008)
6. Mundlos, Stefan: 2 articles (01/2018 - 12/2008)
7. Zhang, Haikuo: 2 articles (01/2018 - 12/2008)
8. Biot, Christophe: 1 article (10/2019)
9. Guerardel, Yann: 1 article (10/2019)
10. Joensuu, Merja: 1 article (10/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Gerodermia osteodysplastica:
1. Proteins (Proteins, Gene)FDA Link
01/01/2014 - "Together with geroderma osteodysplasticum and arterial tortuosity syndrome, which show phenotypic overlap with CL, eleven CL-related genes have been identified to date, which encode proteins within 3 groups. "
10/01/2019 - "Here, we identify GORAB, the protein mutated in the skin and bone disorder gerodermia osteodysplastica, as a component of the COPI machinery. "
01/30/1998 - "Here we describe how the DNA binding activity of the activator protein 1(AP-1) complex is altered in the fibroblasts of a geroderma osteodysplastica patient in response to extracellular stimuli."
09/01/2017 - "Metabolic cutis laxa results from Menkes syndrome, caused by a defect in the ATPase copper transporting alpha (ATP7A) gene; congenital disorders of glycosylation due to mutations in subunit 7 of the component of oligomeric Golgi (COG7)-congenital disorders of glycosylation (CDG) complex; combined disorder of N- and O-linked glycosylation, due to mutations in ATPase H+ transporting V0 subunit a2 (ATP6VOA2) gene; pyrroline-5-carboxylate reductase 1 deficiency; pyrroline-5-carboxylate synthase deficiency; macrocephaly, alopecia, cutis laxa, and scoliosis (MACS) syndrome, due to Ras and Rab interactor 2 (RIN2) mutations; transaldolase deficiency caused by mutations in the transaldolase 1 (TALDO1) gene; Gerodermia osteodysplastica due to mutations in the golgin, RAB6-interacting (GORAB or SCYL1BP1) gene; and mitogen-activated pathway (MAP) kinase defects, caused by mutations in several genes [protein tyrosine phosphatase, non-receptor-type 11 (PTPN11), RAF, NF, HRas proto-oncogene, GTPase (HRAS), B-Raf proto-oncogene, serine/threonine kinase (BRAF), MEK1/2, KRAS proto-oncogene, GTPase (KRAS), SOS Ras/Rho guanine nucleotide exchange factor 2 (SOS2), leucine rich repeat scaffold protein (SHOC2), NRAS proto-oncogene, GTPase (NRAS), and Raf-1 proto-oncogene, serine/threonine kinase (RAF1)], which regulate the Ras-MAPK cascade. "
2. Golgi Matrix ProteinsIBA
3. Non-Receptor Type 11 Protein Tyrosine PhosphataseIBA
4. Coat Protein Complex I (COPI)IBA
5. Guanine Nucleotide Exchange Factors (Guanine Nucleotide Exchange Factor)IBA
6. GTP Phosphohydrolases (GTPases)IBA
7. Protein Serine-Threonine Kinases (Protein-Serine-Threonine Kinase)IBA
8. Glucuronosyltransferase (UDP Glucuronosyltransferase)IBA
9. TransaldolaseIBA
10. Proteoglycans (Proteoglycan)IBA

Therapies and Procedures

1. Orthognathic Surgery