CYLD
MCID: FML055
MIFTS: 39

Familial Cylindromatosis (CYLD) malady

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

Summaries for Familial Cylindromatosis

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Sources:
21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 dermal eccrine cylindroma and brooke-spiegler syndrome, 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 and eye, and related mouse phenotype tumorigenesis.

Wikipedia:63 Cylindromatosis (turban tumor syndrome), also known as CYLD, is a human gene. more...

Description from OMIM:46 132700,601606,605041

Aliases & Classifications for Familial Cylindromatosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

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


Aliases & Descriptions:

familial cylindromatosis 42 21 48
cylindromatosis, familial 42 20 22 21 46 44
turban tumor syndrome 42 21 48
ancell-spiegler cylindromas 21 60
brooke-spiegler syndrome 48 60
eccrine dermal cylindroma 60
dermal eccrine cylindroma 21
turban tumors 42
cyld 42


External Ids:

MESH via Orphanet35 C536611
SNOMED-CT via Orphanet57 211710004
UMLS via Orphanet61 C1704217, C1851526, C1857941

Related Diseases for Familial Cylindromatosis

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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

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46OMIM, 48Orphanet
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Clinical features from OMIM:

132700,601606,605041

Clinical synopsis from OMIM:

132700

Symptoms:

48
  • 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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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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

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32MalaCards
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MalaCards organs/tissues related to Familial Cylindromatosis:

32
Skin, Eye

Animal Models for Familial Cylindromatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Familial Cylindromatosis:

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

Publications for Familial Cylindromatosis

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Genetic Variations for Familial Cylindromatosis

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Expression for genes affiliated with Familial Cylindromatosis

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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

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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

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GO Terms for genes affiliated with Familial Cylindromatosis

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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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet