EAC
MCID: MLT048
MIFTS: 31

Multiple Familial Trichoepithelioma (EAC) malady

Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Cancer diseases categories
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Summaries for Multiple Familial Trichoepithelioma

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33MalaCards
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MalaCards: Multiple Familial Trichoepithelioma, also known as hereditary multiple benign cystic epithelioma, is related to brooke-spiegler syndrome and adenoiditis. An important gene associated with Multiple Familial Trichoepithelioma is CYLD (cylindromatosis (turban tumor syndrome)), and among its related pathways are Wnt / Hedgehog / Notch and Pathways in cancer. Related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Aliases & Classifications for Multiple Familial Trichoepithelioma

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43NIH Rare Diseases, 21Genetics Home Reference, 62UMLS
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Classifications:



Aliases & Descriptions:

multiple familial trichoepithelioma 43 21
hereditary multiple benign cystic epithelioma 43 21
familial multiple trichoepitheliomata 21 62
brooke-fordyce trichoepitheliomas 43 21
epithelioma adenoides cysticum of brooke 21
trichoepithelioma multiple familial 43
epithelioma adenoides cysticum 43
mft 21
eac 21


Related Diseases for Multiple Familial Trichoepithelioma

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



Diseases related to multiple familial trichoepithelioma

Symptoms for Multiple Familial Trichoepithelioma

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Drugs & Therapeutics for Multiple Familial Trichoepithelioma

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

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Search NIH Clinical Center for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

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Anatomical Context for Multiple Familial Trichoepithelioma

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Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Multiple Familial Trichoepithelioma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7CYLD, PTCH1, CDKN2B
2MP:00053798.6CDKN2B, PTCH1, CYLD
3MP:00107718.6CYLD, PTCH1, CDKN2B
4MP:00053978.5CDKN2B, CYLD, PTCH1
5MP:00107688.5CYLD, PTCH1, CDKN2B
6MP:00053878.4CDKN2B, PTCH1, CYLD
7MP:00053848.2CYLD, CDKN2B, PTCH1

Publications for Multiple Familial Trichoepithelioma

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52PubMed
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Articles related to Multiple Familial Trichoepithelioma:

(show all 27)
idTitleAuthorsYear
1
Novel and recurrent germline and somatic mutations in a cohort of 67 patients from 48 families with Brooke-Spiegler syndrome including the phenotypic variant of multiple familial trichoepitheliomas and correlation with the histopathologic findings in 379 biopsy specimens. (23249834)
2013
2
Multiple familial trichoepithelioma: report of a Chinese family not associated with a mutation in the CYLD gene and CYLD protein expression in the trichoepithelioma tumor tissue. (23879700)
2013
3
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. (24247569)
2013
4
Multiple familial trichoepithelioma with malignant transformation. (24082215)
2013
5
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. (22849566)
2012
6
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. (22049921)
2012
7
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. (21712687)
2011
8
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)
2011
9
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. (21605102)
2011
10
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (19911186)
2010
11
Multiple familial trichoepithelioma: a case report and review of literature. (20499764)
2010
12
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)
2009
13
Spectrum of tumors with follicular differentiation in a patient with the clinical phenotype of multiple familial trichoepitheliomas: a clinicopathological and molecular biological study, including analysis of the CYLD and PTCH genes. (19730223)
2009
14
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. (18176750)
2008
15
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)
2008
16
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)
2008
17
Multiple familial trichoepithelioma and familial cylindroma: one cause! (18355210)
2008
18
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. (17875891)
2007
19
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)
2007
20
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
21
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
22
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
23
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
24
Multiple familial trichoepithelioma: a rare cutaneous tumour. (15353143)
2004
25
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)
2004
26
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. (9158430)
1997
27
The gene for multiple familial trichoepithelioma maps to chromosome 9p21. (8752837)
1996

Variations for Multiple Familial Trichoepithelioma

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Multiple Familial Trichoepithelioma:

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

Expression for genes affiliated with Multiple Familial Trichoepithelioma

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Familial Trichoepithelioma

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Pathways for genes affiliated with Multiple Familial Trichoepithelioma

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50PathCards, 5Cell Signaling Technology, 30KEGG
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Pathways related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.3PTCH1, CYLD
29.1CDKN2B, PTCH1

Compounds for genes affiliated with Multiple Familial Trichoepithelioma

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GO Terms for genes affiliated with Multiple Familial Trichoepithelioma

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16Gene Ontology
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Cellular components related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1perinuclear region of cytoplasmGO:0484719.3PTCH1, CYLD
2midbodyGO:0304969.0PTCH1, CYLD

Biological processes related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferationGO:0506809.1CDKN2B, PTCH1
2regulation of mitotic cell cycleGO:0073469.0PTCH1, CYLD

Molecular functions related to Multiple Familial Trichoepithelioma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:0199019.0CDKN2B, CYLD

Products for genes affiliated with Multiple Familial Trichoepithelioma

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Sources for Multiple Familial Trichoepithelioma

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet