CYLD
MCID: FML055
MIFTS: 38

Familial Cylindromatosis (CYLD) malady

Eye, Skin, Cancer, Genetic categories

Summaries for Familial Cylindromatosis

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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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: Familial Cylindromatosis, also known as cylindromatosis, familial, is related to spiradenoma and basal cell carcinoma, 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 breast and skin, and related mouse phenotype tumorigenesis.

Wikipedia:64 Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. more...

Description from OMIM:47 132700,601606,605041

Aliases & Classifications for Familial Cylindromatosis

Sources:
49Orphanet, 61UMLS, 21Genetics Home Reference, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 45Novoseek, 36MESH via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer, Genetic
Anatomical: Eye, Skin


Aliases & Descriptions:

familial cylindromatosis 43 21 49
cylindromatosis, familial 43 20 22 21 47 45
turban tumor syndrome 43 21 49
ancell-spiegler cylindromas 21 61
brooke-spiegler syndrome 49 61
dermal eccrine cylindroma 21
eccrine dermal cylindroma 61
turban tumors 43
cyld 43


External Ids:

MESH via Orphanet36 C536611
SNOMED-CT via Orphanet58 211710004
UMLS via Orphanet62 C1704217, C1851526, C1857941

Related Diseases for Familial Cylindromatosis

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Familial Cylindromatosis:



Diseases related to familial cylindromatosis

Clinical Features for Familial Cylindromatosis

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

132700,601606,605041

Clinical synopsis from OMIM:

132700

Symptoms:

49 (see all 5)
  • 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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
20GeneTests, 22GTR
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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

Sources:
33MalaCards
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MalaCards organs/tissues related to Familial Cylindromatosis:

33
Breast, Skin

Animal Models for Familial Cylindromatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Familial Cylindromatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.1CYLD, BAP1

Publications for Familial Cylindromatosis

Sources:
51PubMed
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Articles related to Familial Cylindromatosis:

(show all 17)
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
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
10
Mild phenotype of familial cylindromatosis associated with an R758X nonsense mutation in the CYLD tumour suppressor gene. (15541090)
2004
11
Familial cylindromatosis. (15287417)
2004
12
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
13
Phenotype diversity in familial cylindromatosis: a frameshift mutation in the tumor suppressor gene CYLD underlies different tumors of skin appendages. (12190880)
2002
14
Ossified cylindroma in familial cylindromatosis (Brooke-Spiegler syndrome). (11493383)
2001
15
Identification of the familial cylindromatosis tumor suppressor gene. (10835629)
2000
16
Familial cylindromatosis mimicking tuberous sclerosis complex and confirmation of the cylindromatosis locus, CYLD1, in a large family. (9783709)
1998
17
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. (7493027)
1995

Genetic Variations for Familial Cylindromatosis

Expression for genes affiliated with Familial Cylindromatosis

Sources:
1BioGPS, 15Gene 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

Sources:
4Cell Signaling Technology
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Pathways related to Familial Cylindromatosis according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Familial Cylindromatosis

GO Terms for genes affiliated with Familial Cylindromatosis

Sources:
16Gene Ontology
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Biological processes related to Familial Cylindromatosis according to GeneCards/GeneDecks:

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

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin thiolesterase activityGO:0042219.1CYLD, BAP1
2ubiquitin-specific protease activityGO:0048438.8CYLD, BAP1

Products for genes affiliated with Familial Cylindromatosis

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Familial Cylindromatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet