MFT1
MCID: TRC095
MIFTS: 36

Trichoepithelioma, Multiple Familial, 1 (MFT1)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Trichoepithelioma, Multiple Familial, 1

MalaCards integrated aliases for Trichoepithelioma, Multiple Familial, 1:

Name: Trichoepithelioma, Multiple Familial, 1 56 13
Mft1 56 52 73
Epithelioma Adenoides Cysticum of Brooke 56 73
Multiple Familial Trichoepithelioma 1 52 73
Brooke-Fordyce Trichoepitheliomas 56 73
Eac 56 73
Epithelioma, Hereditary Multiple Benign Cystic 56
Epithelioma Adenoides Cysticum of Brooke; Eac 56
Hereditary Multiple Benign Cystic Epithelioma 73
Trichoepithelioma Multiple Familial 1 52
Familial Multiple Trichoepitheliomata 71

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
onset in early adulthood
allelic disorder to familial cylindromatosis and brooke-spielger syndrome (bss, )


HPO:

31
trichoepithelioma, multiple familial, 1:
Inheritance autosomal dominant inheritance
Onset and clinical course adult onset


Classifications:



External Ids:

OMIM 56 601606
MedGen 41 C1275122
UMLS 71 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

OMIM : 56 Multiple familial trichoepithelioma, also called epithelioma adenoides cysticum (EAC), is an autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma (Johnson and Bennett, 1993). Because BRSS, familial cylindromatosis, and MFT1 are allelic, and because different manifestations of each have been described within a single family, many consider these disorders to represent a phenotypic spectrum of a single disease entity (Lee et al., 2005; Bowen et al., 2005; Young et al., 2006; Saggar et al., 2008). Blake and Toro (2009) provided a detailed review of the spectrum of disorders associated with CYLD mutations. (601606)

MalaCards based summary : Trichoepithelioma, Multiple Familial, 1, also known as mft1, is related to multiple familial trichoepithelioma and esophageal cancer. An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (CYLD Lysine 63 Deubiquitinase). Affiliated tissues include skin, liver and kidney, and related phenotype is basal cell carcinoma.

UniProtKB/Swiss-Prot : 73 Multiple familial trichoepithelioma 1: Autosomal dominant dermatosis characterized by the presence of many skin tumors predominantly on the face. Since histologic examination shows dermal aggregates of basaloid cells with connection to or differentiation toward hair follicles, this disorder has been thought to represent a benign hamartoma of the pilosebaceous apparatus. Trichoepitheliomas can degenerate into basal cell carcinoma.

Related Diseases for Trichoepithelioma, Multiple Familial, 1

Diseases in the Multiple Familial Trichoepithelioma family:

Trichoepithelioma, Multiple Familial, 1 Trichoepithelioma, Multiple Familial, 2

Diseases related to Trichoepithelioma, Multiple Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 multiple familial trichoepithelioma 11.9
2 esophageal cancer 11.8
3 barrett esophagus 11.2
4 cylindromatosis, familial 11.2
5 brooke-spiegler syndrome 11.2
6 trichoepithelioma, multiple familial, 2 11.2
7 neurofibromatosis, type iv, of riccardi 10.4
8 tuberous sclerosis 10.4
9 spiradenoma 10.4
10 kidney disease 10.3
11 viral hepatitis 10.2
12 premenstrual tension 10.2
13 cervical cancer 10.1
14 human immunodeficiency virus type 1 10.1
15 leukemia, acute lymphoblastic 10.1
16 lymphoma 10.1
17 lymphocytic leukemia 10.1
18 dermatitis 10.1
19 acute kidney failure 10.1
20 alzheimer disease 10.0
21 fibrosis of extraocular muscles, congenital, 1 10.0
22 hypercholesterolemia, familial, 1 10.0
23 leukemia, chronic lymphocytic 10.0
24 schistosoma mansoni infection, susceptibility/ 10.0
25 anxiety 10.0
26 leukemia, chronic myeloid 10.0
27 membranous nephropathy 10.0
28 leptin deficiency or dysfunction 10.0
29 non-alcoholic fatty liver disease 10.0
30 asbestosis 10.0
31 rickets 10.0
32 filariasis 10.0
33 cholesteatoma of middle ear 10.0
34 allergic conjunctivitis 10.0
35 leukemia 10.0
36 hepatitis a 10.0
37 acute cystitis 10.0
38 squamous cell papilloma 10.0
39 schistosomiasis 10.0
40 renal tubular acidosis 10.0
41 generalized anxiety disorder 10.0
42 hypothyroidism 10.0
43 craniosynostosis 10.0
44 iron metabolism disease 10.0
45 blepharoconjunctivitis 10.0
46 papilloma 10.0
47 membranoproliferative glomerulonephritis 10.0
48 glomerulonephritis 10.0
49 adenocarcinoma 10.0
50 lipid metabolism disorder 10.0

Graphical network of the top 20 diseases related to Trichoepithelioma, Multiple Familial, 1:



Diseases related to Trichoepithelioma, Multiple Familial, 1

Symptoms & Phenotypes for Trichoepithelioma, Multiple Familial, 1

Human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

31
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 31 occasional (7.5%) HP:0002671

Symptoms via clinical synopsis from OMIM:

56
Skin Nails Hair Skin:
trichoepitheliomas, multiple (usually occur in thenasolabial folds, the nose, and upper lip)

Neoplasia:
trichoepitheliomas may rarely show malignant transformation to basal cell carcinoma

Skin Nails Hair Skin Histology:
dermal aggregates of basaloid cells
tumors show hair follicle differentiation

Clinical features from OMIM:

601606

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

Search Clinical Trials , NIH Clinical Center for Trichoepithelioma, Multiple Familial, 1

Genetic Tests for Trichoepithelioma, Multiple Familial, 1

Anatomical Context for Trichoepithelioma, Multiple Familial, 1

MalaCards organs/tissues related to Trichoepithelioma, Multiple Familial, 1:

40
Skin, Liver, Kidney, Thyroid, Breast, Myeloid, B Cells

Publications for Trichoepithelioma, Multiple Familial, 1

Articles related to Trichoepithelioma, Multiple Familial, 1:

(show all 38)
# Title Authors PMID Year
1
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes. 56 6
16922728 2006
2
Two novel CYLD gene mutations in Chinese families with trichoepithelioma and a literature review of 16 families with trichoepithelioma reported in China. 56 6
16307661 2005
3
Mutations in the CYLD gene in Brooke-Spiegler syndrome, familial cylindromatosis, and multiple familial trichoepithelioma: lack of genotype-phenotype correlation. 56 6
15854031 2005
4
A novel missense mutation in CYLD in a family with Brooke-Spiegler syndrome. 56 6
14632188 2003
5
Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. 56
19462465 2009
6
CYLD mutations in familial skin appendage tumours. 56
18234730 2008
7
Genetics of skin appendage neoplasms and related syndromes. 56
16272260 2005
8
Hereditary multiple benign cystic epithelioma (multiple trichoepithelioma) with onset at early age. 56
9219004 1997
9
Familial cylindromatosis (turban tumour syndrome) gene localised to chromosome 16q12-q13: evidence for its role as a tumour suppressor gene. 56
7493027 1995
10
Familial cutaneous cylindromas: investigations in five generations of a family. 56
7622645 1995
11
Occurrence of basal cell carcinoma among multiple trichoepitheliomas. 56
8436650 1993
12
Epithelioma adenoides cysticum: genetic update. 56
974013 1976
13
Ancell-Spiegler cylindromas (turban tumours) and Brooke-Fordyce Trichoepitheliomas: evidence for a single genetic entity. 56
5653864 1968
14
Glucose-6-phosphate dehydrogenase mosaicism as a tracer in the study of hereditary multiple trichoepithelioma. 56
17948511 1966
15
Multiple trichoepithelioma in a mother and two children. 56
5958278 1966
16
Hereditary multiple benign cystic epithelioma. 56
18888079 1948
17
Discrimination and divergence among Lactobacillus plantarum-group (LPG) isolates with reference to their probiotic functionalities from vegetable origin. 61
27729171 2016
18
Zinc sensing by metal-responsive transcription factor 1 (MTF1) controls metallothionein and ZnT1 expression to buffer the sensitivity of the transcriptome response to zinc. 61
26824222 2016
19
The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene. 61
26861065 2016
20
Phenotype-genotype correlations for clinical variants caused by CYLD mutations. 61
25782638 2015
21
The yeast THO complex forms a 5-subunit assembly that directly interacts with active chromatin. 61
22964977 2012
22
Architecture and nucleic acids recognition mechanism of the THO complex, an mRNP assembly factor. 61
22314234 2012
23
Depleting components of the THO complex causes increased telomere length by reducing the expression of the telomere-associated protein Rif1p. 61
22448247 2012
24
Implication of Ccr4-Not complex function in mRNA quality control in Saccharomyces cerevisiae. 61
21862638 2011
25
Transcription-associated recombination in eukaryotes: link between transcription, replication and recombination. 61
19139058 2009
26
Different physiological relevance of yeast THO/TREX subunits in gene expression and genome integrity. 61
17960421 2008
27
Differential export requirements for shuttling serine/arginine-type mRNA-binding proteins. 61
14676199 2004
28
The yeast THO complex and mRNA export factors link RNA metabolism with transcription and genome instability. 61
12093753 2002
29
TREX is a conserved complex coupling transcription with messenger RNA export. 61
11979277 2002
30
Hpr1 is preferentially required for transcription of either long or G+C-rich DNA sequences in Saccharomyces cerevisiae. 61
11564888 2001
31
A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae. 61
11060033 2000
32
Eimeria tenella: cloning and characterization of cDNA encoding a S3a ribosomal protein. 61
9931469 1998
33
Characterization of two homologous yeast genes that encode mitochondrial iron transporters. 61
9353309 1997
34
The protein encoded by the MFT1 gene is a targeting factor for mitochondrial precursor proteins, and not a core ribosomal protein. 61
9166903 1997
35
Precise mapping and molecular characterization of the MFT1 gene involved in import of a fusion protein into mitochondria in Saccharomyces cerevisiae. 61
8458428 1993
36
Fte-1, a v-fos transformation effector gene, encodes the mammalian homologue of a yeast gene involved in protein import into mitochondria. 61
1549582 1992
37
NH2-terminal acetylation of ribosomal proteins of Saccharomyces cerevisiae. 61
1544921 1992
38
Mitochondrial protein import: isolation and characterization of the Saccharomyces cerevisiae MFT1 gene. 61
2017143 1991

Variations for Trichoepithelioma, Multiple Familial, 1

ClinVar genetic disease variations for Trichoepithelioma, Multiple Familial, 1:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYLD NM_001042355.2(CYLD):c.2229_2230AG[1] (p.Glu744fs)short repeat Pathogenic 5256 16:50825598-50825599 16:50791687-50791688
2 CYLD NM_015247.2(CYLD):c.1826+2T>GSNV Pathogenic 5257 16:50816379-50816379 16:50782468-50782468
3 CYLD NM_015247.2(CYLD):c.2240A>G (p.Glu747Gly)SNV Pathogenic 5258 rs121908389 16:50825600-50825600 16:50791689-50791689
4 CYLD NM_015247.2(CYLD):c.2806C>T (p.Arg936Ter)SNV Pathogenic 5259 rs121908390 16:50830354-50830354 16:50796443-50796443
5 CYLD NM_015247.2(CYLD):c.1950-5_1950-2deldeletion Uncertain significance 267242 rs886040881 16:50820760-50820763 16:50786849-50786852

UniProtKB/Swiss-Prot genetic disease variations for Trichoepithelioma, Multiple Familial, 1:

73
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

Cosmic variations for Trichoepithelioma, Multiple Familial, 1:

9 (show top 50) (show all 3682)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87898991 TP53 skin,face,carcinoma,basal cell carcinoma c.535C>T p.H179Y 17:7675077-7675077 8
2 COSM87899497 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
3 COSM87906130 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 8
4 COSM87944274 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 8
5 COSM87903307 TP53 skin,face,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 8
6 COSM87961406 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 8
7 COSM87918616 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 8
8 COSM87911563 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 8
9 COSM87919309 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 8
10 COSM87900604 TP53 skin,face,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 8
11 COSM87898424 TP53 skin,face,carcinoma,basal cell carcinoma c.722C>T p.S241F 17:7674241-7674241 8
12 COSM87897850 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 8
13 COSM87899049 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 8
14 COSM87900565 TP53 skin,face,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 8
15 COSM87915380 TP53 skin,face,carcinoma,basal cell carcinoma c.830G>T p.C277F 17:7673790-7673790 8
16 COSM87906983 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 8
17 COSM87899906 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 8
18 COSM87898544 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 8
19 COSM87906806 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 8
20 COSM88110742 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144= 17:7675180-7675180 8
21 COSM87919221 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 8
22 COSM93619372 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197= 10:102592718-102592718 8
23 COSM93618837 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 8
24 COSM84675948 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 8
25 COSM84675839 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 8
26 COSM84680970 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 8
27 COSM84674216 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 8
28 COSM90854979 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 8
29 COSM90852698 PTCH1 skin,face,carcinoma,basal cell carcinoma c.754C>T p.P252S 9:95480581-95480581 8
30 COSM90853744 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 8
31 COSM90834102 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 8
32 COSM90852395 PTCH1 skin,face,carcinoma,basal cell carcinoma c.584G>A p.R195K 9:95485685-95485685 8
33 COSM90855093 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1433C>T p.A478V 9:95477617-95477617 8
34 COSM90853904 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1068-2A>T p.? 9:95479149-95479149 8
35 COSM90828160 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3209T>G p.M1070R 9:95456373-95456373 8
36 COSM90828994 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2072C>T p.T691I 9:95468929-95468929 8
37 COSM90846148 PTCH1 skin,face,carcinoma,basal cell carcinoma c.493G>T p.E165* 9:95485776-95485776 8
38 COSM90844669 PTCH1 skin,face,carcinoma,basal cell carcinoma c.994A>T p.R332* 9:95480042-95480042 8
39 COSM90854934 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1085C>T p.T362I 9:95479130-95479130 8
40 COSM90844191 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2693A>G p.D898G 9:95461866-95461866 8
41 COSM90854545 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 8
42 COSM90828875 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1347+1G>A p.? 9:95478054-95478054 8
43 COSM90831552 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 8
44 COSM90852797 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2965G>T p.E989* 9:95458216-95458216 8
45 COSM90837919 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2050G>T p.E684* 9:95468951-95468951 8
46 COSM90852654 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1082A>C p.Q361P 9:95479133-95479133 8
47 COSM90829040 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1854C>A p.C618* 9:95469147-95469147 8
48 COSM90854302 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 8
49 COSM90854927 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1316T>C p.V439A 9:95478086-95478086 8
50 COSM90827174 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 8

Expression for Trichoepithelioma, Multiple Familial, 1

Search GEO for disease gene expression data for Trichoepithelioma, Multiple Familial, 1.

Pathways for Trichoepithelioma, Multiple Familial, 1

GO Terms for Trichoepithelioma, Multiple Familial, 1

Sources for Trichoepithelioma, Multiple Familial, 1

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