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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MalaCards based summary: Multiple Familial Trichoepithelioma, also known as hereditary multiple benign cystic epithelioma, is related to brooke-spiegler syndrome and multiple familial trichoepithelioma 1. 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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Multiple Familial Trichoepithelioma, Aliases & Descriptions:

Name: Multiple Familial Trichoepithelioma 42 21 62
Hereditary Multiple Benign Cystic Epithelioma 42 21 62
Epithelioma Adenoides Cysticum of Brooke 21 62
Familial Multiple Trichoepitheliomata 21 62
Brooke-Fordyce Trichoepitheliomas 42 21
 
Epithelioma Adenoides Cysticum 42 62
Trichoepithelioma Multiple Familial 42
Mft 21
Eac 21


Classifications:



Related Diseases for Multiple Familial Trichoepithelioma

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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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Drug clinical trials:

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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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MGI Mouse Phenotypes related to Multiple Familial Trichoepithelioma:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7CDKN2B, PTCH1, CYLD
2MP:00053798.6CYLD, PTCH1, CDKN2B
3MP:00107718.6CDKN2B, PTCH1, CYLD
4MP:00053978.5CYLD, PTCH1, CDKN2B
5MP:00107688.5CDKN2B, PTCH1, CYLD
6MP:00053878.4CDKN2B, PTCH1, CYLD
7MP:00053848.2CYLD, PTCH1, CDKN2B

Publications for Multiple Familial Trichoepithelioma

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Articles related to Multiple Familial Trichoepithelioma:

(show all 31)
idTitleAuthorsYear
1
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25117167)
2014
2
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. (25234269)
2014
3
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
4
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
5
Multiple familial trichoepithelioma: a new CYLD gene mutation]. (23567228)
2013
6
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. (24551711)
2013
7
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
8
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. (24247569)
2013
9
Multiple familial trichoepithelioma with malignant transformation. (24082215)
2013
10
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. (22849566)
2012
11
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. (22049921)
2012
12
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. (21712687)
2011
13
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)
2011
14
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. (21605102)
2011
15
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (19911186)
2010
16
Multiple familial trichoepithelioma: a case report and review of literature. (20499764)
2010
17
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)
2009
18
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
19
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. (18176750)
2008
20
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)
2008
21
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)
2008
22
Multiple familial trichoepithelioma and familial cylindroma: one cause! (18355210)
2008
23
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)
2007
24
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
25
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
26
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
27
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
28
Multiple familial trichoepithelioma: a rare cutaneous tumour. (15353143)
2004
29
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)
2004
30
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. (9158430)
1997
31
The gene for multiple familial trichoepithelioma maps to chromosome 9p21. (8752837)
1996

Variations for Multiple Familial Trichoepithelioma

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Clinvar genetic disease variations for Multiple Familial Trichoepithelioma:

6
id Gene Name Type Significance SNP ID Assembly Location
1CYLDNM_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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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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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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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet