Details of Disease | DrugMAP

General Information of Disease (ID: DIS2W9ZC)

Disease Name	Familial cylindromatosis
Synonyms	turban tumor' syndrome; cylindromatosis, familial; turban tumours; turban tumors; CYLD; Cylindromas, dermal eccrine; Ancell-Spiegler Cylindromas; turban tumour syndrome; turban tumor syndrome; turban tumor; Ancell-Spiegler syndrome; turban tumour
Disease Hierarchy	DIS36OT6: Brooke-Spiegler syndrome DIS2W9ZC: Familial cylindromatosis
Disease Identifiers	MONDO ID MONDO_0007565 MESH ID C536611 UMLS CUI C1851526 OMIM ID 132700 MedGen ID 343593 Orphanet ID 211 SNOMED CT ID 211710004

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
CYLD	OT37FKH0	Definitive	Autosomal dominant	[1]
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References

1	Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. Br J Dermatol. 2005 Dec;153(6):1213-5. doi: 10.1111/j.1365-2133.2005.06960.x.