EAC
MCID: MLT048
MIFTS: 31

Multiple Familial Trichoepithelioma (EAC) malady

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

Summaries for Multiple Familial Trichoepithelioma

About this section
Sources:
34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
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

About this section
Sources:
44NIH Rare Diseases, 22Genetics Home Reference, 63UMLS
See all sources

Classifications:



Aliases & Descriptions:

multiple familial trichoepithelioma 44 22
hereditary multiple benign cystic epithelioma 44 22
familial multiple trichoepitheliomata 22 63
brooke-fordyce trichoepitheliomas 44 22
epithelioma adenoides cysticum of brooke 22
trichoepithelioma multiple familial 44
epithelioma adenoides cysticum 44
mft 22
eac 22


Related Diseases for Multiple Familial Trichoepithelioma

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

Graphical network of the top 20 diseases related to Multiple Familial Trichoepithelioma:



Diseases related to multiple familial trichoepithelioma

Symptoms for Multiple Familial Trichoepithelioma

About this section

Drugs & Therapeutics for Multiple Familial Trichoepithelioma

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Multiple Familial Trichoepithelioma

Drug clinical trials:

Search ClinicalTrials for Multiple Familial Trichoepithelioma

Search NIH Clinical Center for Multiple Familial Trichoepithelioma

Search CenterWatch for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

About this section

Anatomical Context for Multiple Familial Trichoepithelioma

About this section

Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Multiple Familial Trichoepithelioma:

38
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

About this section
Sources:
53PubMed
See all sources

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

About this section
Sources:
1 National Center for Biotechnology Information (Clinvar)
See all sources

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

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section
Sources:
51PathCards, 5Cell Signaling Technology, 31KEGG
See all sources

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

About this section

GO Terms for genes affiliated with Multiple Familial Trichoepithelioma

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Multiple Familial Trichoepithelioma

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet