Details of Disease | DrugMAP

General Information of Disease (ID: DISCFIU3)

Disease Name	Meier-Gorlin syndrome
Synonyms	ear-patella-short stature syndrome; Meier-Gorlin syndrome
Definition	Ear-patella-short stature syndrome is an association of malformations including bilateral microtia (severe hypoplasia of ear pinnae), absent patellae, short stature, poor weight gain, and characteristic facial features such as high forehead, micrognathism with full lips and small mouth, and accentuated nasolabial folds (smile wrinkles linking the nostrils to the labial commissure).
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DIS6SVEE: Syndromic disease DISCPWH9: Autosomal recessive disease DISCFIU3: Meier-Gorlin syndrome
Disease Identifiers	MONDO ID MONDO_0016817 MESH ID C538012 UMLS CUI C1868684 MedGen ID 401501 Orphanet ID 2554 SNOMED CT ID 703508009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GMNN	TT390KA	Supportive	Autosomal dominant	[1]
ASPH	TT2KHP7	Strong	Genetic Variation	[2]
CD2	TTJDUNO	Strong	Biomarker	[3]
CYP2D6	TTVG215	Strong	Genetic Variation	[4]
GMNN	TT390KA	Strong	CausalMutation	[1]
GRIK3	TTNP6O2	Strong	Biomarker	[5]
PLCB1	TTLPGU7	Strong	Biomarker	[6]
RBP4	TT0C8BY	Strong	Biomarker	[7]
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⏷ Show the Full List of 8 DTT(s)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDC45	OT6NNLOD	Supportive	Autosomal dominant	[8]
CDC6	OTX93FE7	Supportive	Autosomal dominant	[9]
CDT1	OTVY53VG	Supportive	Autosomal dominant	[9]
GMNN	OTDYKNIY	Supportive	Autosomal dominant	[1]
ORC1	OTHWU8IJ	Supportive	Autosomal dominant	[9]
ORC4	OT3ACTST	Supportive	Autosomal dominant	[9]
ORC6	OTKQN3KP	Supportive	Autosomal dominant	[9]
MCM5	OTAHLB62	Strong	Biomarker	[10]
MYH9	OT94Z706	Strong	Genetic Variation	[11]
ORC3	OTYQWB6B	Strong	Genetic Variation	[12]
PRKACG	OTKOQYF8	Strong	Biomarker	[6]
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⏷ Show the Full List of 11 DOT(s)

References

1	De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome. Am J Hum Genet. 2015 Dec 3;97(6):904-13. doi: 10.1016/j.ajhg.2015.11.006.
2	A Meier-Gorlin syndrome mutation impairs the ORC1-nucleosome association.ACS Chem Biol. 2015 May 15;10(5):1176-80. doi: 10.1021/cb5009684. Epub 2015 Feb 24.
3	Mechanism of Cu(II) and Cd(II) immobilization by extracellular polymeric substances (Escherichia coli) on variable charge soils.Environ Pollut. 2019 Apr;247:136-145. doi: 10.1016/j.envpol.2019.01.038. Epub 2019 Jan 11.
4	Relationship between CYP2D6 genotype and haloperidol pharmacokinetics and extrapyramidal symptoms in healthy volunteers.Pharmacogenomics. 2013 Oct;14(13):1551-63. doi: 10.2217/pgs.13.150.
5	Pharmacogenetic study of antipsychotic induced acute extrapyramidal symptoms in a first episode psychosis cohort: role of dopamine, serotonin and glutamate candidate genes. Pharmacogenomics J. 2016 Oct;16(5):439-45.
6	A genetic dissection of antipsychotic induced movement disorders.Curr Med Chem. 2013;20(3):312-30.
7	A prospective, proteomics study identified potential biomarkers of encapsulating peritoneal sclerosis in peritoneal effluent.Kidney Int. 2017 Oct;92(4):988-1002. doi: 10.1016/j.kint.2017.03.030. Epub 2017 Jul 1.
8	Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis. Am J Hum Genet. 2016 Jul 7;99(1):125-38. doi: 10.1016/j.ajhg.2016.05.019. Epub 2016 Jun 30.
9	Deficiency in origin licensing proteins impairs cilia formation: implications for the aetiology of Meier-Gorlin syndrome. PLoS Genet. 2013;9(3):e1003360. doi: 10.1371/journal.pgen.1003360. Epub 2013 Mar 14.
10	MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15.
11	Clinical manifestation and molecular genetic characterization of MYH9 disorders.Platelets. 2009 Aug;20(5):289-96. doi: 10.1080/09537100902993022.
12	A Meier-Gorlin syndrome mutation in a conserved C-terminal helix of Orc6 impedes origin recognition complex formation.Elife. 2013 Oct 8;2:e00882. doi: 10.7554/eLife.00882.