Details of Disease | DrugMAP

General Information of Disease (ID: DISJ57T4)

Disease Name	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Synonyms	cutaneous telangiectasia and cancer syndrome, familial; FCTCS; telangiectasia, cutaneous, and cancer syndrome, familial; familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome; familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Disease Hierarchy	DIS2TMQU: Skin vascular disease DISGXLG5: Hereditary neoplastic syndrome DISSCALK: Hereditary skin disorder DISJ57T4: Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
Disease Identifiers	MONDO ID MONDO_0013806 UMLS CUI C3281203 OMIM ID 614564 MedGen ID 482833 Orphanet ID 313846

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
ATR	TT8ZYBQ	Limited	Genetic Variation	[1]
ATR	TT8ZYBQ	Moderate	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATR	OTH0OP1J	Moderate	Autosomal dominant	[2]
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References

1	Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. Am J Hum Genet. 2012 Mar 9;90(3):511-7. doi: 10.1016/j.ajhg.2012.01.007. Epub 2012 Feb 16.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.