Multiple Familial Trichoepithelioma malady

Genetics Home Reference: Multiple familial trichoepithelioma is a condition involving multiple skin tumors that develop from structures associated with the skin (skin appendages), such as hair follicles and sweat glands. People with multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.¹⁷

MalaCards: Multiple Familial Trichoepithelioma, also known as hereditary multiple benign cystic epithelioma, is related to trichoepithelioma and basal cell carcinoma. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (cylindromatosis (turban tumor syndrome)), and among its related pathways are Pathways in cancer and Wnt / Hedgehog / Notch. Affiliated tissues include skin, and related mouse phenotypes are tumorigenesis and hematopoietic system.

Wikipedia: Multiple familial trichoepithelioma (also known as \"Brooke–Spiegler syndrome\" and \"Epithelioma...⁴⁴ more...

multiple familial trichoepithelioma 30 17 hereditary multiple benign cystic epithelioma 30 17 brooke-fordyce trichoepitheliomas 30 17 epithelioma adenoides cysticum of brooke 17 familial multiple trichoepitheliomata 43

trichoepithelioma multiple familial 30 epithelioma adenoides cysticum 30 trichoepithelioma 43 eac 17 mft 17

Disease types for multiple familial trichoepithelioma family:

multiple familial trichoepithelioma 1	multiple familial trichoepithelioma 2

Diseases related to multiple familial trichoepithelioma by text searches and GeneDecks gene sharing:

(show all 23)

id	Related Disease	Score	Top Affiliating Genes
1	trichoepithelioma	33.4	CYLD, PTCH1, CDKN2B
2	basal cell carcinoma	30.9	CYLD, PTCH1, CDKN2B
3	rectal cloacogenic carcinoma	12.3	PTCH1, CDKN2B
4	brain cancer	12.3	PTCH1, CDKN2B
5	bannayan-riley-ruvalcaba syndrome	12.2	PTCH1, CYLD
6	urinary bladder cancer	12.2	PTCH1, CDKN2B
7	skin cancer	12.1	PTCH1, CYLD
8	chondrosarcoma	12.1	CDKN2B, PTCH1
9	pituitary adenoma	12.1	CDKN2B, PTCH1
10	non-small cell lung carcinoma	11.8	CDKN2B, PTCH1
11	hepatocellular carcinoma	11.4	CYLD, PTCH1, CDKN2B
12	multiple familial trichoepithelioma 1	9.1
13	carcinoma	8.8
14	cylindromatosis	8.8
15	multiple familial trichoepithelioma 2	8.4
16	familial cylindromatosis	7.9
17	brooke-spiegler syndrome	7.0
18	bernard-soulier syndrome	6.3
19	infiltrative basal cell carcinoma	6.3
20	rombo syndrome	6.3
21	vulvar trichoepithelioma	6.3
22	squamous cell carcinoma	5.4
23	trichofolliculoma	5.4

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to multiple familial trichoepithelioma:

²²

MGI Mouse Phenotypes related to multiple familial trichoepithelioma:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	tumorigenesis	MP:0002006	8.5	CYLD, PTCH1, CDKN2B
2	hematopoietic system phenotype	MP:0005397	8.5	CYLD, PTCH1, CDKN2B
3	integument phenotype	MP:0010771	8.4	CYLD, PTCH1, CDKN2B
4	endocrine/exocrine gland phenotype	MP:0005379	8.2	CYLD, PTCH1, CDKN2B

Articles related to multiple familial trichoepithelioma:

(show all 15)

id	Title	Authors	Year	Affiliating Genes
1	Multiple (familial) trichoepitheliomas: a clinicopath ological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)	Kazakov D.V.... Michal M.	2011	CYLD, PTCH1
2	Mutation analysis of the CYLD gene in two Chinese fam ilies with multiple familial Trichoepithelioma. (21605102)	Chen M.... Zhang F.	2011	CYLD
3	A novel missense mutation of CYLD gene in a Chinese f amily with multiple familial trichoepithelioma. (19911186)	Wang F.X.... Zhu X.H.	2010	CYLD
4	A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)	Huang T.M.... Lee J.Y.	2009	CYLD
5	Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of th e CYLD and PTCH genes. (19730223)	Kazakov D.V.... Michal M.	2009	CYLD, PTCH1
6	Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)	Liang Y.H.... Zhang X.J.	2008	CYLD
7	A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)	Lv H.L.... Zhang X.J.	2008	CYLD
8	A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)	Zuo Y.G.... Ho M.G.	2007	CYLD
9	A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. (17875891)	Espana A.... Garcia-Foncillas J.	2007	CYLD
10	CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)	Young A.L.... Celebi J.T.	2006	CYLD
11	Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)	Bowen S.... Celebi J.T.	2005	CYLD
12	Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)	Zhang X.J.... Huang W.	2004	CYLD
13	Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)	Salhi A.... Grzeschik K.H.	2004	CYLD
14	CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)	Zheng G.... Kong X.	2004	CYLD
15	The gene for multiple familial trichoepithelioma maps to chromosome 9p21. (8752837)	Harada H.... Ko M.S.	1996	CDKN2B

Genes related to multiple familial trichoepithelioma according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CYLD	cylindromatosis (turban tumor syndrome)	11.1	Publications, Summaries
2	PTCH1	patched 1	11.0	Publications
3	CDKN2B	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	11.0	Publications

Pathways related to multiple familial trichoepithelioma according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Pathways in cancer20	9.1	CDKN2B, PTCH1
2	Wnt / Hedgehog / Notch3	8.7	PTCH1, CYLD

Molecular functions related to multiple familial trichoepithelioma according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	protein kinase binding	GO:019901	9.3	CDKN2B, CYLD