CYLD
MCID: FML055
MIFTS: 44

Familial Cylindromatosis (CYLD) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories
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Summaries for Familial Cylindromatosis

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Genetics Home Reference:21 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.

MalaCards based summary: Familial Cylindromatosis, also known as cylindromatosis, familial, is related to dermal eccrine cylindroma and spiradenoma, and has symptoms including telangiectasiae of the skin, skin tumors/lumps/epidermal cysts and subcutaneous nodules/lipomas/tumefaction/swelling. 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, eye and breast, and related mouse phenotype tumorigenesis.

Wikipedia:65 Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. more...

Descriptions from OMIM:46 132700,601606,605041

Aliases & Classifications for Familial Cylindromatosis

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Sources:
48Orphanet, 62UMLS, 21Genetics Home Reference, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 44Novoseek, 35MESH via Orphanet, 63UMLS via Orphanet
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Familial Cylindromatosis, Aliases & Descriptions:

Name: Familial Cylindromatosis 42 21 48
Cylindromatosis, Familial 42 20 22 21 46 44
Turban Tumor Syndrome 42 21 48
Ancell-Spiegler Cylindromas 21 62
 
Dermal Eccrine Cylindroma 21 62
Brooke-Spiegler Syndrome 48 62
Turban Tumors 42 62
Cyld 42


Classifications:



External Ids:

MESH via Orphanet35 C536611
UMLS via Orphanet63 C1704217, C1851526, C1857941

Related Diseases for Familial Cylindromatosis

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Graphical network of the top 20 diseases related to Familial Cylindromatosis:



Diseases related to familial cylindromatosis

Symptoms for Familial Cylindromatosis

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Symptoms by clinical synopsis from OMIM:

132700

Clinical features from OMIM:

132700,601606,605041

Symptoms:

48
  • telangiectasiae of the skin
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • scalp cyst/giant nevus
  • autosomal dominant inheritance

HPO human phenotypes related to Familial Cylindromatosis:

id Description Frequency HPO Source Accession
1 neoplasm of the skin hallmark (90%) HP:0008069
2 teleangiectasia of the skin hallmark (90%) HP:0100585
3 autosomal dominant inheritance HP:0000006
4 adult onset HP:0003581
5 neoplasm of the skin HP:0008069

Drugs & Therapeutics for Familial Cylindromatosis

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Drug clinical trials:

Search ClinicalTrials for Familial Cylindromatosis

Search NIH Clinical Center for Familial Cylindromatosis

Genetic Tests for Familial Cylindromatosis

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Genetic tests related to Familial Cylindromatosis:

id Genetic test Affiliating Genes
1 Familial Cylindromatosis20 CYLD
2 Cylindromatosis, Familial22

Anatomical Context for Familial Cylindromatosis

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MalaCards organs/tissues related to Familial Cylindromatosis:

32
Skin, Eye, Breast

Animal Models for Familial Cylindromatosis or affiliated genes

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MGI Mouse Phenotypes related to Familial Cylindromatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1BAP1, CYLD

Publications for Familial Cylindromatosis

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Articles related to Familial Cylindromatosis:

(show all 14)
idTitleAuthorsYear
1
Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis. (20972631)
2011
2
Familial cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the surgical challenges posed by two affected families. (19397670)
2009
3
Benign cylindroma causing transcalvarial invasion in a patient with familial cylindromatosis. (19157004)
2007
4
An evaluation of the efficacy of topical application of salicylic acid for the treatment of familial cylindromatosis. (16792771)
2006
5
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
6
Cutaneous appendage tumors: familial cylindromatosis and associated tumors update. (16350444)
2005
7
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
8
Fine needle aspiration cytology of breast cylindroma in a woman with familial cylindromatosis: a case report. (15581173)
2004
9
Familial cylindromatosis. (15287417)
2004
10
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. (12190880)
2002
11
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
12
Identification of the familial cylindromatosis tumor suppressor gene. (10835629)
2000
13
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. (9783709)
1998
14
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. (7493027)
1995

Variations for Familial Cylindromatosis

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Clinvar genetic disease variations for Familial Cylindromatosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1CYLDCYLD, NT2469, G-A, +1single nucleotide variantPathogenic
2CYLDNM_015247.2(CYLD): c.2272C> T (p.Arg758Ter)single nucleotide variantPathogenicrs121908388GRCh37Chr 16, 50826538: 50826538
3CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354
4CYLDCYLD, 1-BP DUP, 561TduplicationPathogenic
5CYLDCYLD, 4-BP DEL, 1950-1GATAdeletionPathogenic

Expression for genes affiliated with Familial Cylindromatosis

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Expression patterns in normal tissues for genes affiliated with Familial Cylindromatosis

Search GEO for disease gene expression data for Familial Cylindromatosis.

Pathways for genes affiliated with Familial Cylindromatosis

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Pathways related to Familial Cylindromatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1BAP1, CYLD

Compounds for genes affiliated with Familial Cylindromatosis

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GO Terms for genes affiliated with Familial Cylindromatosis

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Cellular components related to Familial Cylindromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleolusGO:0057309.1BAP1, CYLD

Biological processes related to Familial Cylindromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-dependent protein catabolic processGO:0065119.1BAP1, CYLD

Molecular functions related to Familial Cylindromatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-specific protease activityGO:0048439.1BAP1, CYLD

Products for genes affiliated with Familial Cylindromatosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Familial Cylindromatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet