Details of Disease | DrugMAP

General Information of Disease (ID: DISNSW0F)

Disease Name	Craniosynostosis and dental anomalies
Synonyms	CRSDA; craniosynostosis-dental anomalies; Kreiborg-Pakistani syndrome; craniosynostosis and dental anomalies
Disease Hierarchy	DISEUVBK: Syndromic craniosynostosis DISNSW0F: Craniosynostosis and dental anomalies
Disease Identifiers	MONDO ID MONDO_0013615 UMLS CUI C3280073 OMIM ID 614188 MedGen ID 481703 Orphanet ID 284149 SNOMED CT ID 773332008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IL11	TTGUYTR	Limited	Autosomal recessive	[1]
IL11	TTGUYTR	Limited	Biomarker	[1]
IL11RA	TTZPLJS	Strong	Biomarker	[2]
IL11RA	TTZPLJS	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IL11	OTXHN86R	Limited	Autosomal recessive	[1]
IL11RA	OTN6DBCJ	Definitive	Autosomal recessive	[3]
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References

1	Inactivation of IL11 signaling causes craniosynostosis, delayed tooth eruption, and supernumerary teeth. Am J Hum Genet. 2011 Jul 15;89(1):67-81. doi: 10.1016/j.ajhg.2011.05.024.
2	Mutations in the interleukin receptor IL11RA cause autosomal recessive Crouzon-like craniosynostosis.Mol Genet Genomic Med. 2013 Nov;1(4):223-37. doi: 10.1002/mgg3.28. Epub 2013 Aug 19.
3	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.