Details of Disease

General Information of Disease (ID: DISHHYIP)

Disease Name Trigonocephaly 2
Synonyms craniosynostosis, metopic; TRIGNO2; isolated trigonocephaly caused by mutation in FREM1; trigonocephaly 2; trigonocephaly type 2; FREM1 isolated trigonocephaly
Definition Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene.
Disease Hierarchy
DISIEY3W: Isolated trigonocephaly
DISHHYIP: Trigonocephaly 2
Disease Identifiers
MONDO ID
MONDO_0013774
UMLS CUI
C3280974
OMIM ID
614485
MedGen ID
482604

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FREM1 OTMHRV87 Disputed Autosomal dominant [1]
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References

1 Heterozygous mutations of FREM1 are associated with an increased risk of isolated metopic craniosynostosis in humans and mice. PLoS Genet. 2011 Sep;7(9):e1002278. doi: 10.1371/journal.pgen.1002278. Epub 2011 Sep 8.