Familial Cylindromatosis malady

Genetics Home Reference: Familial cylindromatosis 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 familial cylindromatosis typically develop large numbers of tumors called cylindromas. While previously thought to derive from sweat glands, cylindromas are now generally believed to begin in hair follicles.¹⁷

MalaCards: Familial Cylindromatosis, also known as cylindromatosis, familial, is related to cylindromatosis and brooke-spiegler syndrome. An important gene associated with Familial Cylindromatosis is CYLD (cylindromatosis (turban tumor syndrome)), and among its related pathways is Protein Stability. Affiliated tissues include skin.

OMIM: 132700

familial cylindromatosis 30 17 cylindromatosis, familial 30 16 33 32 ancell-spiegler cylindromas 17 43 turban tumor syndrome 30 17

dermal eccrine cylindroma 17 eccrine dermal cylindroma 43 turban tumors 30 cyld 30

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

(show all 25)

id	Related Disease	Score	Top Affiliating Genes
1	cylindromatosis	31.8	BAP1, CYLD
2	brooke-spiegler syndrome	7.8
3	carcinoma	7.8
4	hepatocellular carcinoma	7.3
5	influenza	7.3
6	haemophilus influenzae	7.3
7	dermal eccrine cylindroma	7.3
8	multiple familial trichoepithelioma	7.3
9	trichoepithelioma	7.3
10	basal cell carcinoma	7.0
11	hodgkin's lymphoma	7.0
12	leukemia	7.0
13	multiple myeloma	7.0
14	myeloma	7.0
15	pneumonia	7.0
16	skin cancer	7.0
17	spiradenoma	7.0
18	t-cell leukemia	7.0
19	nephropathy	6.1
20	multiple familial trichoepithelioma 1	5.2
21	regular astigmatism	5.2
22	adenoiditis	5.2
23	astigmatism	5.2
24	leprosy	5.2
25	melanoma	5.2

Clinical features from OMIM: 132700

Approved drugs:

Drug clinical trials:

Genetic tests related to familial cylindromatosis:

id	Genetic test	Affiliating Genes
1	Familial Cylindromatosis clinical/research	CYLD

MalaCards organs/tissues related to familial cylindromatosis:

²²

Articles related to familial cylindromatosis:

id	Title	Authors	Year	Affiliating Genes
1	Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. (20972631)	Van den Ouweland A.M.... Houweling A.C.	2011	CYLD
2	CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)	Young A.L.... Celebi J.T.	2006	CYLD
3	Cutaneous appendage tumors: familial cylindromatosis and associated tumors update. (16350444)	Lian F.... Cockerell C.J.	2005	CYLD
4	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
5	Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. (15541090)	Oiso N.... Ishii M.	2004	CYLD
6	Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. (12190880)	Poblete Gutierrez P.... Frank J.	2002	CYLD
7	Identification of the familial cylindromatosis tumor suppressor gene. (10835629)	Bignell G.R.... Stratton M.R.	2000	CYLD, BAP1
8	Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. (7493027)	Biggs P.J.... Stratton M.R.	1995	CYLD

Genes related to familial cylindromatosis according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	CYLD	cylindromatosis (turban tumor syndrome)	11.0	Publications
2	BAP1	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	11.0	Publications

Pathways related to familial cylindromatosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Protein Stability3	9.1	BAP1, CYLD

Biological processes related to familial cylindromatosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin-dependent protein catabolic process	GO:006511	9.1	BAP1, CYLD

Molecular functions related to familial cylindromatosis according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	ubiquitin thiolesterase activity	GO:004221	9.1	BAP1, CYLD
2	ubiquitin-specific protease activity	GO:004843	8.8	BAP1, CYLD