Details of Disease | DrugMAP

General Information of Disease (ID: DISMHGXP)

Disease Name	C syndrome
Synonyms	trigonocephaly syndrome; OTCS; Opitz C trigonocephaly; Opitz trigonocephaly syndrome; Opitz trigonocephaly C syndrome; C syndrome; trigonocephaly C syndrome
Definition	C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Disease Hierarchy	DISEUVBK: Syndromic craniosynostosis DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISMHGXP: C syndrome
Disease Identifiers	MONDO ID MONDO_0008893 MESH ID C537418 UMLS CUI C0796095 OMIM ID 211750 MedGen ID 167105 Orphanet ID 1308 SNOMED CT ID 715409005

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
CD96	TT83C4X	Limited	Autosomal dominant	[1]
CD96	TT83C4X	Limited	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CD96	OT3SGX8W	Limited	Autosomal dominant	[1]
IFT140	OT6KO5FH	moderate	Genetic Variation	[3]
MAGEL2	OTXEL4R7	moderate	Genetic Variation	[4]
------------------------------------------------------------------------------------

References

1	Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome. Am J Hum Genet. 2007 Oct;81(4):835-41. doi: 10.1086/522014. Epub 2007 Aug 27.
2	Screening of CD96 and ASXL1 in 11 patients with Opitz C or Bohring-Opitz syndromes.Am J Med Genet A. 2016 Jan;170A(1):24-31. doi: 10.1002/ajmg.a.37418. Epub 2015 Oct 7.
3	Compound heterozygous mutations in the IFT140 gene cause Opitz trigonocephaly C syndrome in a patient with typical features of a ciliopathy.Clin Genet. 2017 Apr;91(4):640-646. doi: 10.1111/cge.12924. Epub 2017 Feb 16.
4	A De Novo Nonsense Mutation in MAGEL2 in a Patient Initially Diagnosed as Opitz-C: Similarities Between Schaaf-Yang and Opitz-C Syndromes.Sci Rep. 2017 Mar 10;7:44138. doi: 10.1038/srep44138.