Meier-Gorlin syndrome

A rare autosomal recessive disorder characterized by severe intrauterine and postnatal growth retardation, MICROCEPHALY, bilateral microtia, and aplasia or hypoplasia of the patellae. DWARFISM is the most common feature and the others occur with less frequency; affected individuals usually have normal intellect. Mutations in the ORC1 gene have been identified. OMIM: 601902

Also Known As:

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

Disease Context: Research Results

Related Diseases

1.	Dwarfism
2.	Genomic Instability
3.	Microcephaly

Experts

1.	Balasov, Maxim: 2 articles (12/2020 - 10/2013)
2.	Chesnokov, Igor: 2 articles (12/2020 - 10/2013)
3.	Stillman, Bruce: 2 articles (01/2017 - 08/2012)
4.	Bongers, Ernie M H F: 2 articles (12/2015 - 01/2013)
5.	Brunner, Han G: 2 articles (12/2015 - 01/2013)
6.	Jeggo, Penny A: 2 articles (01/2013 - 02/2011)
7.	O'Driscoll, Mark: 2 articles (01/2013 - 02/2011)
8.	Stiff, Tom: 2 articles (01/2013 - 02/2011)
9.	Hatami, Farbod: 1 article (05/2022)
10.	Mobini, Moein: 1 article (05/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Meier-Gorlin syndrome:

1.	Origin Recognition ComplexIBA 05/15/2015 - "Recent studies have identified several genetic mutations within the BAH domain of human Origin Recognition Complex subunit 1 (hORC1BAH), including the R105Q mutation, implicated in Meier-Gorlin Syndrome (MGS). " 12/01/2020 - "Humanized Drosophila Model of the Meier-Gorlin Syndrome Reveals Conserved and Divergent Features of the Orc6 Protein." 03/01/2015 - "Mutations in genes encoding the origin recognition complex subunits cause Meier-Gorlin syndrome. " 10/08/2013 - "A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation." 02/27/2011 - "Using marker-assisted mapping in multiple families from a founder population and traditional coding exon sequencing of positional candidate genes, we identified three different mutations in the gene encoding ORC4, a component of the eukaryotic origin recognition complex, in five individuals with Meier-Gorlin syndrome. "
2.	Proteins (Proteins, Gene)FDA Link 01/01/2013 - "Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome." 10/01/2012 - "In contrast, humans with Meier-Gorlin syndrome have mutations in pre-RC proteins and show defects in cell proliferation that may be a consequence of chronic activation of the licensing checkpoint." 12/03/2015 - "Meier-Gorlin syndrome (MGS) is a genetically heterogeneous primordial dwarfism syndrome known to be caused by biallelic loss-of-function mutations in one of five genes encoding pre-replication complex proteins: ORC1, ORC4, ORC6, CDT1, and CDC6. " 01/01/2013 - "Mutations in ORC1, ORC4, ORC6, CDT1, and CDC6, which encode proteins required for DNA replication origin licensing, cause Meier-Gorlin syndrome (MGS), a disorder conferring microcephaly, primordial dwarfism, underdeveloped ears, and skeletal abnormalities. "
3.	Growth Hormone (Somatotropin)IBA 09/01/2005 - "Meier-Gorlin (ear-patella-short stature) syndrome: growth hormone deficiency and previously unrecognized findings." 05/01/2022 - "Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case."
4.	CyclinsIBA 08/15/2012 - "Meier-Gorlin syndrome mutations that disrupt Cyclin E-CDK2 kinase inhibition also allow centrosome reduplication. " 08/15/2012 - "In contrast, Orc1 inhibition of Cyclin E-CDK2 kinase activity occurs by a different mechanism that is affected by Orc1 mutations identified in Meier-Gorlin syndrome patients. "
5.	Phosphotransferases (Kinase)IBA 08/15/2012 - "Meier-Gorlin syndrome mutations that disrupt Cyclin E-CDK2 kinase inhibition also allow centrosome reduplication. " 08/15/2012 - "In contrast, Orc1 inhibition of Cyclin E-CDK2 kinase activity occurs by a different mechanism that is affected by Orc1 mutations identified in Meier-Gorlin syndrome patients. "
6.	Peptide Initiation Factors (Initiation Factor)IBA 10/13/2023 - "Specifically, the issues of how vertebrate cells select and activate origins of replication are of importance as, for example, insufficient origin firing leads to genomic instability and mutations in replication initiation factors lead to the rare human disease Meier-Gorlin syndrome. "
7.	Adenosine Triphosphatases (ATPase)IBA 01/01/2017 - "Analysis of the ATPase activity of the complex provides a basis for understanding ORC activity as well as molecular defects observed in Meier-Gorlin Syndrome mutations."

Therapies and Procedures

1.	Knee Replacement Arthroplasty (Total Knee Replacement) 10/01/2004 - "Total knee arthroplasty in Meier-Gorlin syndrome."
2.	Therapeutics 05/01/2022 - "Meier-Gorlin syndrome with prenatal ultrasound findings and successful growth hormone therapy: Six years follow-up of a rare case."