Details of Disease

General Information of Disease (ID: DISXGIYN)

Disease Name Meier-Gorlin syndrome 6
Synonyms Meier-GORLIN syndrome 6; Meier-Gorlin syndrome type 6; MGORS6; Meier-Gorlin syndrome 6; GMNN Meier-Gorlin syndrome; Meier-Gorlin syndrome caused by mutation in GMNN
Definition Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene.
Disease Hierarchy
DISCFIU3: Meier-Gorlin syndrome
DISXGIYN: Meier-Gorlin syndrome 6
Disease Identifiers
MONDO ID
MONDO_0014794
UMLS CUI
C4225188
OMIM ID
616835
MedGen ID
905079

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GMNN TT390KA Strong Autosomal dominant [1]
GMNN TT390KA Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GMNN OTDYKNIY Strong Autosomal dominant [1]
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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 Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach.Mol Cell Probes. 2019 Jun;45:84-88. doi: 10.1016/j.mcp.2019.03.006. Epub 2019 Mar 23.