Details of Disease

General Information of Disease (ID: DISIAVZU)

Disease Name Crouzon syndrome
Synonyms craniofacial dysostosis, type 1; Crouzon's disease; craniofacial dysostosis type 1; Crouzon disease; Cfd1; craniofacial dysostosis; Crouzon syndrome; Crouzon craniofacial dysostosis
Definition Crouzon disease is characterized by craniosynostosis and facial hypoplasia.
Disease Hierarchy
DISEUVBK: Syndromic craniosynostosis
DISIAVZU: Crouzon syndrome
Disease Identifiers
MONDO ID
MONDO_0007405
MESH ID
D003394
UMLS CUI
C0010273
MedGen ID
1162
HPO ID
HP:0004439
Orphanet ID
207
SNOMED CT ID
28861008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ERF TTGXULC Supportive Autosomal dominant [1]
DYRK3 TTV4EX0 moderate Genetic Variation [2]
FGFR2 TTGJVQM moderate Genetic Variation [3]
TK1 TTP3QRF moderate Genetic Variation [4]
FGFR2 TTGJVQM Definitive Autosomal dominant [5]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ERF OTGTA85X Supportive Autosomal dominant [1]
IK OTWSSXX0 moderate Genetic Variation [2]
NUBP2 OTYOTM2B moderate Genetic Variation [6]
TK2 OTS1V4XB moderate Genetic Variation [4]
FGFR2 OTLOPACK Definitive Autosomal dominant [5]
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References

1 Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis. Nat Genet. 2013 Mar;45(3):308-13. doi: 10.1038/ng.2539. Epub 2013 Jan 27.
2 Midface correction in patients with Crouzon syndrome is Le Fort III distraction osteogenesis with a rigid external distraction device the gold standard?.J Craniomaxillofac Surg. 2019 Mar;47(3):420-430. doi: 10.1016/j.jcms.2018.11.028. Epub 2018 Dec 31.
3 Crouzon syndrome mouse model exhibits cartilage hyperproliferation and defective segmentation in the developing trachea.Sci China Life Sci. 2019 Oct;62(10):1375-1380. doi: 10.1007/s11427-019-9568-x. Epub 2019 Aug 26.
4 A novel FGFR2 mutation in tyrosine kinase II domain, L617F, in Crouzon syndrome.J Cell Biochem. 2014 Jan;115(1):102-10. doi: 10.1002/jcb.24637.
5 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
6 Two craniosynostotic syndrome loci, Crouzon and Jackson-Weiss, map to chromosome 10q23-q26.Genomics. 1994 Jul 15;22(2):418-24. doi: 10.1006/geno.1994.1403.