EAC
MCID: MLT048
MIFTS: 24

Multiple Familial Trichoepithelioma (EAC) malady

Genetic category

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 basal cell carcinoma. 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 integument and tumorigenesis.

Aliases & Classifications for Multiple Familial Trichoepithelioma

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 61UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic


Aliases & Descriptions:

multiple familial trichoepithelioma 43 21
hereditary multiple benign cystic epithelioma 43 21
familial multiple trichoepitheliomata 21 61
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

Clinical Features for Multiple Familial Trichoepithelioma

Drugs & Therapeutics for Multiple Familial Trichoepithelioma

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5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Multiple Familial Trichoepithelioma

Anatomical Context for Multiple Familial Trichoepithelioma

Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Multiple Familial Trichoepithelioma:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.8PTCH1, CDKN2B
2MP:00020068.5PTCH1, CYLD, CDKN2B
3MP:00053978.5PTCH1, CYLD, CDKN2B
4MP:00053798.4CDKN2B, CYLD, PTCH1

Publications for Multiple Familial Trichoepithelioma

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51PubMed
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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

Genetic Variations for Multiple Familial Trichoepithelioma

Expression for genes affiliated with Multiple Familial Trichoepithelioma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Multiple Familial Trichoepithelioma

Search GEO for disease gene expression data for Multiple Familial Trichoepithelioma.

Pathways for genes affiliated with Multiple Familial Trichoepithelioma

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4Cell 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
29.1PTCH1, CDKN2B

Compounds for genes affiliated with Multiple Familial Trichoepithelioma

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
1midbodyGO:0304969.3PTCH1, CYLD

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

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferationGO:0506809.1PTCH1, CDKN2B
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:0199019.0CYLD, CDKN2B

Products for genes affiliated with Multiple Familial Trichoepithelioma

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Sources for Multiple Familial Trichoepithelioma

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