FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Human Disease Model Report: Meier-Gorlin syndrome
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General Information
Name
Meier-Gorlin syndrome
FlyBase ID
FBhh0000899
Disease Ontology Term
Parent Disease
OMIM
Overview

This report describes general characteristics of the group of disorders classified as Meier-Gorlin syndrome (MGS). Meier-Gorlin syndrome is a genetically heterogeneous disorder, with multiple genes and mapped loci. Many of the genes implicated in this syndrome encode components of the origin recognition complex or the subsequent pre-replication complex, which are required for DNA replication. A comprehensive list of MGS subtypes, as defined by OMIM, can be found by following the link in the "OMIM phenotypic series" section, below. A subset of these are listed in the table below, with links to more detailed reports for subtypes that have been investigated using fly models.

[updated Sep. 2018 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: Meier-Gorlin syndrome
OMIM report
Symptoms and phenotype

The Meier-Gorlin syndrome is a rare disorder characterized by severe intrauterine and postnatal growth retardation, microcephaly, bilateral microtia, and aplasia or hypoplasia of the patellae (summary by Shalev and Hall, 2003; pubmed:14564153). While almost all cases have primordial dwarfism with substantial prenatal and postnatal growth retardation, not all cases have microcephaly, and microtia and absent/hypoplastic patella are absent in some. Despite the presence of microcephaly, intellect is usually normal (Bicknell et al., 2011; pubmed:21358632). [from MIM:224690; 2018.09.26]

(OMIM, 2013-)
Genetics

Mutations in one of five genes (ORC1, ORC4, ORC6, CDT1, and CDC6) of the pre-replication complex, involved in DNA-replication, are detected in approximately 67-78% of patients with MGS (de Munnik, et al., 2015; pubmed:26381604).

(FlyBase Curators, 2013-)

Most subtypes of Meier-Gorlin syndrome exhibit autosomal recessive inheritance. [from MIM:PS224690; 2018.09.26]

(OMIM, 2013-)
Cellular phenotype and pathology
Molecular information

The origin recognition complex (ORC) bound at replication origins serves as the foundation for assembly of the pre-replication complex (pre-RC) (https://www.genenames.org/cgi-bin/genefamilies/set/960).

(FlyBase Curators, 2013-)
External links
Disease synonyms
MGORS
MGS
Ortholog Information
Human gene(s) in FlyBase
    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Other Genes Used: Viral, Bacterial, Synthetic (0)
        Summary of Physical Interactions (0 groups)
        Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
        Alleles Representing Disease-Implicated Variants
        Genetic Tools, Stocks and Reagents
        Sources of Stocks
        Contact lab of origin for a reagent not available from a public stock center.
        Bloomington Stock Center Disease Page
        Related mammalian, viral, bacterial, or synthetic transgenes
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila transgenes
        Allele
        Transgene
        Publicly Available Stocks
        RNAi constructs available
        Allele
        Transgene
        Publicly Available Stocks
        Selected Drosophila classical alleles
        Allele
        Allele class
        Mutagen
        Publicly Available Stocks
        References (3)