CYLD
MCID: FML055
MIFTS: 44

Familial Cylindromatosis (CYLD) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories

Summaries for Familial Cylindromatosis

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. more...

MalaCards: 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.

Description from OMIM:48 132700,601606,605041

Aliases & Classifications for Familial Cylindromatosis

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50Orphanet, 63UMLS, 22Genetics Home Reference, 44NIH Rare Diseases, 21GeneTests, 23GTR, 48OMIM, 46Novoseek, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Aliases & Descriptions:

familial cylindromatosis 44 22 50
cylindromatosis, familial 44 21 23 22 48 46
turban tumor syndrome 44 22 50
ancell-spiegler cylindromas 22 63
brooke-spiegler syndrome 50 63
dermal eccrine cylindroma 22
eccrine dermal cylindroma 63
turban tumors 44
cyld 44


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MESH via Orphanet37 C536611
SNOMED-CT via Orphanet60 211710004
UMLS via Orphanet64 C1704217, C1851526, C1857941

Related Diseases for Familial Cylindromatosis

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18GeneCards, 19GeneDecks
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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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

132700

Clinical features from OMIM:

132700,601606,605041

Symptoms:

50
  • telangiectasiae of the skin
  • skin tumors/lumps/epidermal cysts
  • subcutaneous nodules/lipomas/tumefaction/swelling
  • scalp cyst/giant nevus
  • autosomal dominant inheritance

Drugs & Therapeutics for Familial Cylindromatosis

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Familial Cylindromatosis

Drug clinical trials:

Search ClinicalTrials for Familial Cylindromatosis

Search NIH Clinical Center for Familial Cylindromatosis

Search CenterWatch for Familial Cylindromatosis

Genetic Tests for Familial Cylindromatosis

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21GeneTests, 23GTR
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Genetic tests related to Familial Cylindromatosis:

id Genetic test Affiliating Genes
1 Familial Cylindromatosis21 CYLD
2 Cylindromatosis, Familial23

Anatomical Context for Familial Cylindromatosis

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34MalaCards
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MalaCards organs/tissues related to Familial Cylindromatosis:

34
Skin, Eye, Breast

Animal Models for Familial Cylindromatosis or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Familial Cylindromatosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1BAP1, CYLD

Publications for Familial Cylindromatosis

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53PubMed
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Articles related to Familial Cylindromatosis:

(show all 15)
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
Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. (15541090)
2004
10
Familial cylindromatosis. (15287417)
2004
11
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. (12190880)
2002
12
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
13
Identification of the familial cylindromatosis tumor suppressor gene. (10835629)
2000
14
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. (9783709)
1998
15
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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Familial Cylindromatosis:

1
id Gene Name Type Significance SNP ID Assembly Location
1CYLDNM_015247.2(CYLD): c.2272C> T (p.Arg758Ter)single nucleotide variantPathogenicrs121908388GRCh37Chr 16, 50826538: 50826538
2CYLDNM_015247.2(CYLD): c.2240A> G (p.Glu747Gly)single nucleotide variantPathogenicrs121908389GRCh37Chr 16, 50825600: 50825600
3CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354

Expression for genes affiliated with Familial Cylindromatosis

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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 5Cell Signaling Technology
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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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17Gene Ontology
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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
  • Antibodies

Sources for Familial Cylindromatosis

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet