MCID: CYL004
MIFTS: 30

Cylindromatosis, Familial malady

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

Aliases & Classifications for Cylindromatosis, Familial

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Sources:
46OMIM, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 44Novoseek, 48Orphanet, 22GTR, 61UMLS, 34MESH via Orphanet, 62UMLS via Orphanet
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Aliases & Descriptions for Cylindromatosis, Familial:

Name: Cylindromatosis, Familial 46 9 42 21 44
Familial Cylindromatosis 42 20 21 48 22
Turban Tumor Syndrome 42 21 48
Ancell-Spiegler Cylindromas 21 61
 
Dermal Eccrine Cylindroma 42 21
Eccrine Dermal Cylindroma 61
Turban Tumors 42
Cyld 42


Classifications:



External Ids:

OMIM46 132700
Orphanet48 211
MESH via Orphanet34 C536611
UMLS via Orphanet62 C1704217, C1851526

Summaries for Cylindromatosis, Familial

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OMIM:46 The disorders classically referred to as familial cylindromatosis, Brooke-Spiegler syndrome, and multiple familial... (132700) more...

MalaCards based summary: Cylindromatosis, Familial, also known as familial cylindromatosis, is related to brooke-spiegler syndrome and adenoiditis, and has symptoms including neoplasm of the skin, teleangiectasia of the skin and autosomal dominant inheritance. An important gene associated with Cylindromatosis, Familial is CYLD (cylindromatosis (turban tumor syndrome)). Affiliated tissues include skin and eye.

NIH Rare Diseases:42 Cylindromas are non-cancerous (benign) tumors that develop from the skin. they most commonly occur on the head and neck and rarely become cancerous (malignant).  an individual can develop one or many cylindromas; if a person develops only one, the cylindroma likely occurred by chance and typically is not inherited. they usually begin to form during mid-adulthood as a slow-growing, rubbery nodule that causes no symptoms. the development of multiple cylindromas can be hereditary and is inherited in an autosomal dominant manner; this condition is called familial cylindromatosis.  individuals with the inherited form begin to develop many, rounded nodules of various size shortly after puberty. the tumors grow very slowly and increase in number over time. last updated: 2/18/2015

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.

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

Related Diseases for Cylindromatosis, Familial

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



Diseases related to cylindromatosis, familial

Symptoms for Cylindromatosis, Familial

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Symptoms by clinical synopsis from OMIM:

132700

Clinical features 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

HPO human phenotypes related to Cylindromatosis, Familial:

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 Cylindromatosis, Familial

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Drug clinical trials:

Search ClinicalTrials for Cylindromatosis, Familial

Search NIH Clinical Center for Cylindromatosis, Familial

Genetic Tests for Cylindromatosis, Familial

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Genetic tests related to Cylindromatosis, Familial:

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

Anatomical Context for Cylindromatosis, Familial

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MalaCards organs/tissues related to Cylindromatosis, Familial:

31
Skin, Eye

Animal Models for Cylindromatosis, Familial or affiliated genes

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Publications for Cylindromatosis, Familial

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Articles related to Cylindromatosis, Familial:

idTitleAuthorsYear
1
A new hereditary cylindromatosis family associated with CYLD1 on chromosome 16. (10480375)
1999

Variations for Cylindromatosis, Familial

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Clinvar genetic disease variations for Cylindromatosis, Familial:

5
id Gene Variation 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 Cylindromatosis, Familial

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Search GEO for disease gene expression data for Cylindromatosis, Familial.

Pathways for genes affiliated with Cylindromatosis, Familial

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Compounds for genes affiliated with Cylindromatosis, Familial

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GO Terms for genes affiliated with Cylindromatosis, Familial

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Sources for Cylindromatosis, Familial

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet