MCID: MLT048
MIFTS: 31

Multiple Familial Trichoepithelioma malady

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

Summaries for Multiple Familial Trichoepithelioma

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Genetics Home Reference:21 Multiple familial trichoepithelioma 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 multiple familial trichoepithelioma typically develop large numbers of smooth, round tumors called trichoepitheliomas, which arise from hair follicles. Trichoepitheliomas are generally noncancerous (benign) but occasionally develop into a type of skin cancer called basal cell carcinoma.

MalaCards based summary: Multiple Familial Trichoepithelioma, also known as familial multiple trichoepitheliomata, 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. Affiliated tissues include skin, and related mouse phenotypes are tumorigenesis and endocrine/exocrine gland.

Wikipedia:63 Multiple familial trichoepithelioma (also known as \"Brooke?Spiegler syndrome\" and \"Epithelioma... more...

Aliases & Classifications for Multiple Familial Trichoepithelioma

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Multiple Familial Trichoepithelioma, Aliases & Descriptions:

Name: Multiple Familial Trichoepithelioma 41 21
Familial Multiple Trichoepitheliomata 21 22 60
Hereditary Multiple Benign Cystic Epithelioma 41 21
Brooke-Fordyce Trichoepitheliomas 41 21
Epithelioma Adenoides Cysticum of Brooke 21
 
Trichoepithelioma Multiple Familial 41
Epithelioma Adenoides Cysticum 41
Trichoepithelioma 60
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:

Search ClinicalTrials for Multiple Familial Trichoepithelioma

Search NIH Clinical Center for Multiple Familial Trichoepithelioma

Genetic Tests for Multiple Familial Trichoepithelioma

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Genetic tests related to Multiple Familial Trichoepithelioma:

id Genetic test Affiliating Genes
1 Familial Multiple Trichoepitheliomata22

Anatomical Context for Multiple Familial Trichoepithelioma

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MalaCards organs/tissues related to Multiple Familial Trichoepithelioma:

31
Skin

Animal Models for Multiple Familial Trichoepithelioma or affiliated genes

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MGI Mouse Phenotypes related to Multiple Familial Trichoepithelioma:

35
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 34)
idTitleAuthorsYear
1
A recurrent R936X mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25751345)
2015
2
<i>CYLD</i> GeneticTesting for Brooke-Spiegler Syndrome, Familial Cylindromatosis and Multiple Familial Trichoepitheliomas. (25737804)
2015
3
A novel mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (25117167)
2014
4
A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma. (25234269)
2014
5
Large Germline Deletions of the CYLD Gene in Patients With Brooke-Spiegler Syndrome and Multiple Familial Trichoepithelioma. (25347032)
2014
6
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
7
Multiple familial trichoepithelioma: a new CYLD gene mutation]. (23567228)
2013
8
Familial Facial disfigurement in Multiple Familial Trichoepithelioma. (24551711)
2013
9
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
10
Three Mutations of CYLD Gene in Chinese Families With Multiple Familial Trichoepithelioma. (24247569)
2013
11
Multiple familial trichoepithelioma with malignant transformation. (24082215)
2013
12
Trichoblastic carcinoma associated with multiple familial trichoepithelioma. (22849566)
2012
13
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma. (22049921)
2012
14
Recurrent CYLD nonsense mutation associated with a severe, disfiguring phenotype in an African American family with multiple familial trichoepithelioma. (21712687)
2011
15
Multiple (familial) trichoepitheliomas: a clinicopathological and molecular biological study, including CYLD and PTCH gene analysis, of a series of 16 patients. (21389835)
2011
16
Mutation analysis of the CYLD gene in two Chinese families with multiple familial Trichoepithelioma. (21605102)
2011
17
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (19911186)
2010
18
Multiple familial trichoepithelioma: a case report and review of literature. (20499764)
2010
19
A novel splicing mutation of the CYLD gene in a Taiwanese family with multiple familial trichoepithelioma. (19076795)
2009
20
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
21
Malignant transformation of multiple familial trichoepithelioma: case report and literature review. (18176750)
2008
22
Novel substitution and frameshift mutations of CYLD in two Chinese families with multiple familial trichoepithelioma. (18363762)
2008
23
A novel missense mutation of CYLD gene in a Chinese family with multiple familial trichoepithelioma. (18242958)
2008
24
Multiple familial trichoepithelioma and familial cylindroma: one cause! (18355210)
2008
25
A novel missense mutation in the CYLD gene in a Spanish family with multiple familial trichoepithelioma. (17875891)
2007
26
A novel mutation of CYLD in a Chinese family with multiple familial trichoepithelioma and no CYLD protein expression in the tumour tissue. (17662085)
2007
27
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. (16922728)
2006
28
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. (15854031)
2005
29
Identification of the cylindromatosis tumor-suppressor gene responsible for multiple familial trichoepithelioma. (15086550)
2004
30
Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene. (15289313)
2004
31
Multiple familial trichoepithelioma: a rare cutaneous tumour. (15353143)
2004
32
CYLD mutation causes multiple familial trichoepithelioma in three Chinese families. (15024746)
2004
33
Basal cell carcinoma occurring in multiple familial trichoepithelioma: detection of loss of heterozygosity in chromosome 9q. (9158430)
1997
34
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 Variation Type Significance SNP ID Assembly Location
1CYLDNM_015247.2(CYLD): c.2806C> T (p.Arg936Ter)single nucleotide variantPathogenicrs121908390GRCh37Chr 16, 50830354: 50830354

Cosmic variations for Multiple Familial Trichoepithelioma:

7 (show all 116)
id Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Conf
110887TP53skin,face,carcinoma,basal cell carcinoma3
210771TP53skin,NS,carcinoma,basal cell carcinoma3
343702TP53skin,NS,carcinoma,basal cell carcinoma3
445015TP53skin,NS,carcinoma,basal cell carcinoma3
543665TP53skin,NS,carcinoma,basal cell carcinoma3
644925TP53skin,NS,carcinoma,basal cell carcinoma3
744167TP53skin,NS,carcinoma,basal cell carcinoma3
844071TP53skin,NS,carcinoma,basal cell carcinoma3
943577TP53skin,NS,carcinoma,basal cell carcinoma3
106549TP53skin,NS,carcinoma,basal cell carcinoma3
1110726TP53skin,face,carcinoma,basal cell carcinoma3
1211084TP53skin,face,carcinoma,basal cell carcinoma3
1343585TP53skin,face,carcinoma,basal cell carcinoma3
1444227TP53skin,face,carcinoma,basal cell carcinoma3
1544552TP53skin,face,carcinoma,basal cell carcinoma3
1644310TP53skin,NS,carcinoma,basal cell carcinoma3
1743842TP53skin,NS,carcinoma,basal cell carcinoma3
1844096TP53skin,NS,carcinoma,basal cell carcinoma3
1944074TP53skin,NS,carcinoma,basal cell carcinoma3
2043616TP53skin,NS,carcinoma,basal cell carcinoma3
2145020TP53skin,face,carcinoma,basal cell carcinoma3
2245019TP53skin,face,carcinoma,basal cell carcinoma3
2343608TP53skin,NS,carcinoma,basal cell carcinoma3
2444606TP53skin,NS,carcinoma,basal cell carcinoma3
2543635TP53skin,NS,carcinoma,basal cell carcinoma3
2643592TP53skin,NS,carcinoma,basal cell carcinoma3
2745740TP53skin,NS,carcinoma,basal cell carcinoma3
2810660TP53skin,NS,carcinoma,basal cell carcinoma3
2944909TP53skin,face,carcinoma,basal cell carcinoma3
3010648TP53skin,NS,carcinoma,basal cell carcinoma3
3110992TP53skin,face,carcinoma,basal cell carcinoma3
3243742TP53skin,face,carcinoma,basal cell carcinoma3
3310728TP53skin,face,carcinoma,basal cell carcinoma3
3445017TP53skin,face,carcinoma,basal cell carcinoma3
3544226TP53skin,NS,carcinoma,basal cell carcinoma3
3610768TP53skin,face,carcinoma,basal cell carcinoma3
3743920TP53skin,face,carcinoma,basal cell carcinoma3
3845776TP53skin,face,carcinoma,basal cell carcinoma3
3943581TP53skin,NS,carcinoma,basal cell carcinoma3
4045423TP53skin,NS,carcinoma,basal cell carcinoma3
4144068TP53skin,face,carcinoma,basal cell carcinoma3
4245420TP53skin,NS,carcinoma,basal cell carcinoma3
4310656TP53skin,NS,carcinoma,basal cell carcinoma3
4410659TP53skin,NS,carcinoma,basal cell carcinoma3
4543582TP53skin,NS,carcinoma,basal cell carcinoma3
4643584TP53skin,NS,carcinoma,basal cell carcinoma3
4745739TP53skin,NS,carcinoma,basal cell carcinoma3
4844603TP53skin,NS,carcinoma,basal cell carcinoma3
496932TP53skin,NS,carcinoma,basal cell carcinoma3
5010662TP53skin,NS,carcinoma,basal cell carcinoma3
5110794TP53skin,NS,carcinoma,basal cell carcinoma3
5210812TP53skin,face,carcinoma,basal cell carcinoma3
5310988TP53skin,NS,carcinoma,basal cell carcinoma3
5443700TP53skin,face,carcinoma,basal cell carcinoma3
556545TP53skin,face,carcinoma,basal cell carcinoma3
5610704TP53skin,face,carcinoma,basal cell carcinoma3
5711449TP53skin,face,carcinoma,basal cell carcinoma3
5843596TP53skin,face,carcinoma,basal cell carcinoma3
5944097TP53skin,NS,carcinoma,basal cell carcinoma3
6010650TP53skin,NS,carcinoma,basal cell carcinoma3
6143837TP53skin,NS,carcinoma,basal cell carcinoma3
6245424TP53skin,NS,carcinoma,basal cell carcinoma3
6344908TP53skin,face,carcinoma,basal cell carcinoma3
6410939TP53skin,face,carcinoma,basal cell carcinoma3
6510749TP53skin,NS,carcinoma,basal cell carcinoma3
6610867TP53skin,NS,carcinoma,basal cell carcinoma3
6729043PTCH1skin,face,carcinoma,basal cell carcinoma3
6817494PTCH1skin,face,carcinoma,basal cell carcinoma3
6917522PTCH1skin,face,carcinoma,basal cell carcinoma3
7024851PTCH1skin,NS,carcinoma,basal cell carcinoma3
7129349PTCH1skin,NS,carcinoma,basal cell carcinoma3
7217519PTCH1skin,face,carcinoma,basal cell carcinoma3
7314453PTCH1skin,face,carcinoma,basal cell carcinoma3
7414439PTCH1skin,face,carcinoma,basal cell carcinoma3
7517547PTCH1skin,face,carcinoma,basal cell carcinoma3
7617460PTCH1skin,face,carcinoma,basal cell carcinoma3
7717454PTCH1skin,NS,carcinoma,basal cell carcinoma3
7829348PTCH1skin,NS,carcinoma,basal cell carcinoma3
7917434PTCH1skin,NS,carcinoma,basal cell carcinoma3
8017582PTCH1skin,face,carcinoma,basal cell carcinoma3
8196963PTCH1skin,NS,carcinoma,basal cell carcinoma3
8217498PTCH1skin,face,carcinoma,basal cell carcinoma3
8317601PTCH1skin,face,carcinoma,basal cell carcinoma3
8417520PTCH1skin,face,carcinoma,basal cell carcinoma3
8517511PTCH1skin,face,carcinoma,basal cell carcinoma3
8617481PTCH1skin,NS,carcinoma,basal cell carcinoma3
8717585PTCH1skin,face,carcinoma,basal cell carcinoma3
8817489PTCH1skin,face,carcinoma,basal cell carcinoma3
8914445PTCH1skin,face,carcinoma,basal cell carcinoma3
9017600PTCH1skin,face,carcinoma,basal cell carcinoma3
9117599PTCH1skin,face,carcinoma,basal cell carcinoma3
9226372PTCH1skin,NS,carcinoma,basal cell carcinoma3
9317584PTCH1skin,face,carcinoma,basal cell carcinoma3
9426361PTCH1skin,NS,carcinoma,basal cell carcinoma3
9529040PTCH1skin,face,carcinoma,basal cell carcinoma3
9696959PTCH1skin,NS,carcinoma,basal cell carcinoma3
9726365PTCH1skin,NS,carcinoma,basal cell carcinoma3
9817592PTCH1skin,NS,carcinoma,basal cell carcinoma3
9917492PTCH1skin,face,carcinoma,basal cell carcinoma3
1001651688PTCH1skin,NS,carcinoma,basal cell carcinoma3
10196958PTCH1skin,NS,carcinoma,basal cell carcinoma3
10296960PTCH1skin,NS,carcinoma,basal cell carcinoma3
10396957PTCH1skin,NS,carcinoma,basal cell carcinoma3
10417496PTCH1skin,face,carcinoma,basal cell carcinoma3
105490HRASskin,NS,carcinoma,basal cell carcinoma3
106486HRASskin,NS,carcinoma,basal cell carcinoma3
107498HRASskin,face,carcinoma,basal cell carcinoma3
108502HRASskin,face,carcinoma,basal cell carcinoma3
109483HRASskin,face,carcinoma,basal cell carcinoma3
110521KRASskin,face,carcinoma,basal cell carcinoma3
111553KRASskin,NS,carcinoma,basal cell carcinoma3
1125662CTNNB1skin,NS,carcinoma,basal cell carcinoma3
11312476CDKN2Askin,NS,carcinoma,basal cell carcinoma3
114564NRASskin,face,carcinoma,basal cell carcinoma3
11513234SUFUskin,face,carcinoma,basal cell carcinoma3
11613146SMOskin,face,carcinoma,basal cell carcinoma3

Expression for genes affiliated with Multiple Familial Trichoepithelioma

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

Pathways for genes affiliated with Multiple Familial Trichoepithelioma

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Pathways related to Multiple Familial Trichoepithelioma according to GeneCards Suite gene sharing:

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1perinuclear region of cytoplasmGO:00484719.3PTCH1, CYLD
2midbodyGO:00304969.0PTCH1, CYLD

Biological processes related to Multiple Familial Trichoepithelioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of epithelial cell proliferationGO:00506809.1CDKN2B, PTCH1
2regulation of mitotic cell cycleGO:00073469.0PTCH1, CYLD

Molecular functions related to Multiple Familial Trichoepithelioma according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1protein kinase bindingGO:00199019.0CDKN2B, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet