MFT1
MCID: TRC095
MIFTS: 25

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 57 13
Mft1 57 53 75
Epithelioma Adenoides Cysticum of Brooke 57 75
Multiple Familial Trichoepithelioma 1 53 75
Brooke-Fordyce Trichoepitheliomas 57 75
Eac 57 75
Epithelioma, Hereditary Multiple Benign Cystic 57
Epithelioma Adenoides Cysticum of Brooke; Eac 57
Hereditary Multiple Benign Cystic Epithelioma 75
Trichoepithelioma Multiple Familial 1 53
Familial Multiple Trichoepitheliomata 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
trichoepithelioma, multiple familial, 1:
Onset and clinical course adult onset
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 601606
MedGen 42 C1275122
UMLS 73 C1275122

Summaries for Trichoepithelioma, Multiple Familial, 1

OMIM : 57 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 cylindromatosis, familial. An important gene associated with Trichoepithelioma, Multiple Familial, 1 is CYLD (CYLD Lysine 63 Deubiquitinase). The drugs Abraxane and Alimta have been mentioned in the context of this disorder. Affiliated tissues include skin and myeloid, and related phenotype is basal cell carcinoma.

UniProtKB/Swiss-Prot : 75 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 all 15)
# Related Disease Score Top Affiliating Genes
1 multiple familial trichoepithelioma 11.7
2 cylindromatosis, familial 11.1
3 brooke-spiegler syndrome 11.1
4 trichoepithelioma, multiple familial, 2 11.1
5 spiradenoma 10.4
6 horns in sheep 10.0
7 leukemia, chronic myeloid 10.0
8 arthritis 10.0
9 craniosynostosis 10.0
10 leukemia 10.0
11 schistosomiasis 10.0
12 blepharoconjunctivitis 10.0
13 adenocarcinoma 10.0
14 mucoepidermoid carcinoma 10.0
15 esophageal disease 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Trichoepithelioma, Multiple Familial, 1:

32
# Description HPO Frequency HPO Source Accession
1 basal cell carcinoma 32 occasional (7.5%) HP:0002671

Drugs & Therapeutics for Trichoepithelioma, Multiple Familial, 1

FDA approved drugs:

(show top 50) (show all 113)
# Drug Name Active Ingredient(s) 18 Company Approval Date
1
Abraxane 18 49 PACLITAXEL Celgene October 2012
2
Alimta 18 49 PEMETREXED (also Pemetrexed Disodium) Eli Lilly February 2004
3
Aredia 18 49 PAMIDRONATE DISODIUM Chiron August 1996
4
Beleodaq 18 49 BELINOSTAT Spectrum Pharmaceuticals July 2014
5
Bexxar 18 49 TOSITUMOMAB; IODINE I 131 TOSITUMOMAB Corixa June 2003
6
Blincyto 18 49 BLINATUMOMAB Amgen December 2014
7
Busulfex 18 49 BUSULFAN Orphan Medical February 1999
8
CEA-Scan 18 Immunomedics April 1996
9
Cervarix 18 49 Human Papillomavirus Bivalent (Types 16 and 18) Vaccine, Recombinant GlaxoSmithKline October 2009
10
Degarelix 18 49 degarelix Ferring Pharmaceuticals December of 2008
11
Doxil 18 49 DOXORUBICIN HYDROCHLORIDE Alza June 1999
12
Ellence 18 49 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn September 1999
13
Elliotts B Solution 18 CALCIUM CHLORIDE; DEXTROSE; MAGNESIUM SULFATE; POTASSIUM CHLORIDE; SODIUM BICARBONATE; SODIUM CHLORIDE; SODIUM PHOSPHATE, DIBASIC, HEPTAHYDRATE Orphan Medical October 1996
14
Eloxatin 18 49 OXALIPLATIN Sanofi-aventis August 2002
15
Erbitux 18 49 CETUXIMAB Imclone, Bristol-Myers Squibb February 2004
16
Erwinaze 18 49 asparaginase Erwinia chrysanthemi Eusa Pharma November of 2011
17
Evista 18 49 RALOXIFENE HYDROCHLORIDE Eli Lilly September 2007
18
Farydak 18 49 PANOBINOSTAT LACTATE Novartis February 2015
19
Femara 18 49 LETROZOLE Novartis January 2001
20
Fusilev 18 LEVOLEUCOVORIN CALCIUM Spectrum Pharmaceuticals March of 2008
21
Gazyva 18 49 OBINUTUZUMAB Genentech October of 2013
22
Gleevec 18 49 IMATINIB MESYLATE Novartis May 2001
23
Gliadel Wafer 18 49 CARMUSTINE Rhone-Poulenc Rorer, Guilford Pharmaceuticals February 1997
24
Herceptin 18 49 TRASTUZUMAB Genentech October 1998
25
Hycamtin 18 49 TOPOTECAN HYDROCHLORIDE GlaxoSmithKline/ SmithKline Beecham October 2007/May 1996
26
Ibrance 18 49 PALBOCICLIB Pfizer February 2015
27
Iclusig 18 49 PONATINIB HYDROCHLORIDE Ariad Pharmaceuticals December 2012
28
Imbruvica 18 49 IBRUTINIB Pharmacyclics November of 2013/February 2014
29
Intron A 18 49 INTERFERON ALFA-2B Schering-Plough December 1997/ December 1995/ March 1997
30
Iressa 18 49 GEFITINIB AstraZeneca May 2003
31
Istodax 18 49 ROMIDEPSIN Gloucester Pharmaceuticals November 2009
32
Jevtana 18 49 CABAZITAXEL sanofi aventis June 2010
33
Kadcyla 18 49 ADO-TRASTUZUMAB EMTANSINE Genentech February 2013
34
Kyprolis 18 49 CARFILZOMIB Onyx Pharmaceuticals July 2012
35
Lenvima 18 49 LENVATINIB MESYLATE Eisai February 2015
36
Mozobil 18 49 PLERIXAFOR Genzyme December 2008
37
Neulasta 18 PEGFILGRASTIM Amgen January 2002
38
Neutroval 18 tbo-filgrastim Teva Pharmaceutical August 2012
39
Nexavar 18 49 SORAFENIB TOSYLATE Bayer/Onyx December 2005
40
Nolvadex 18 49 TAMOXIFEN CITRATE AstraZeneca October 1998
41
Odomzo 18 49 SONIDEGIB PHOSPHATE Novartis Jul-15
42
Onsolis 18 FENTANYL CITRATE BioDelivery Sciences July 2009
43
Opdivo 18 49 NIVOLUMAB Bristol-Myers Squibb March 2015/ December 2014
44
Perjeta 18 49 PERTUZUMAB Genentech June 2012
45
Picato gel 18 INGENOL MEBUTATE LEO Pharma January 2012
46
Pomalyst 18 49 POMALIDOMIDE Celgene February 2013
47
Premarin 18 ESTROGENS CONJUGATED Wyeth July of 2003
48
Provenge 18 49 sipuleucel-T Dendreon May 2010
49
Revlimid 18 49 LENALIDOMIDE Celgene June 2013
50
Sancuso 18 GRANISETRON ProStrakan September 2008

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:

41
Skin, Myeloid

Publications for Trichoepithelioma, Multiple Familial, 1

Articles related to Trichoepithelioma, Multiple Familial, 1:

# Title Authors Year
1
A protein complex containing Tho2, Hpr1, Mft1 and a novel protein, Thp2, connects transcription elongation with mitotic recombination in Saccharomyces cerevisiae. ( 11060033 )
2000
2
The protein encoded by the MFT1 gene is a targeting factor for mitochondrial precursor proteins, and not a core ribosomal protein. ( 9166903 )
1997
3
Precise mapping and molecular characterization of the MFT1 gene involved in import of a fusion protein into mitochondria in Saccharomyces cerevisiae. ( 8458428 )
1993
4
Mitochondrial protein import: isolation and characterization of the Saccharomyces cerevisiae MFT1 gene. ( 2017143 )
1991
5
Familial multiple eccrine spiradenomas with cylindromatous features associated with epithelioma adenoides cysticum of Brooke. ( 2166650 )
1990
6
Proceedings: Dermal eccrine cylindroma, epithelioma adenoides cysticum of Brooke, and ecrine spiradenoma. ( 4375438 )
1974

Variations for Trichoepithelioma, Multiple Familial, 1

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

75
# Symbol AA change Variation ID SNP ID
1 CYLD p.Glu747Gly VAR_045967 rs121908389

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CYLD CYLD, 2-BP DEL, 2241AG deletion Pathogenic
2 CYLD CYLD, IVS12AS, T-G, +2 single nucleotide variant Pathogenic
3 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh37 Chromosome 16, 50825600: 50825600
4 CYLD NM_015247.2(CYLD): c.2240A> G (p.Glu747Gly) single nucleotide variant Pathogenic rs121908389 GRCh38 Chromosome 16, 50791689: 50791689
5 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh37 Chromosome 16, 50830354: 50830354
6 CYLD NM_015247.2(CYLD): c.2806C> T (p.Arg936Ter) single nucleotide variant Pathogenic rs121908390 GRCh38 Chromosome 16, 50796443: 50796443
7 CYLD NM_015247.2(CYLD): c.1950-5_1950-2delCTTA deletion Uncertain significance rs886040881 GRCh38 Chromosome 16, 50786850: 50786853
8 CYLD NM_015247.2(CYLD): c.1950-5_1950-2delCTTA deletion Uncertain significance rs886040881 GRCh37 Chromosome 16, 50820761: 50820764

Cosmic variations for Trichoepithelioma, Multiple Familial, 1:

9 (show top 50) (show all 867)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM214343 CYLD skin,face,adnexal tumour,trichoepithelioma c.1327C>T p.Q443* 16:50779853-50779853 12
2 COSM44097 TP53 skin,face,carcinoma,basal cell carcinoma c.530C>T p.P177L 17:7675082-7675082 8
3 COSM44295 TP53 skin,face,carcinoma,basal cell carcinoma c.993+1G>A p.? 17:7673534-7673534 8
4 COSM10939 TP53 skin,face,carcinoma,basal cell carcinoma c.832C>T p.P278S 17:7673788-7673788 8
5 COSM10662 TP53 skin,face,carcinoma,basal cell carcinoma c.743G>A p.R248Q 17:7674220-7674220 8
6 COSM11449 TP53 skin,face,carcinoma,basal cell carcinoma c.388C>T p.L130F 17:7675224-7675224 8
7 COSM44068 TP53 skin,face,carcinoma,basal cell carcinoma c.532C>A p.H178N 17:7675080-7675080 8
8 COSM43582 TP53 skin,face,carcinoma,basal cell carcinoma c.454C>T p.P152S 17:7675158-7675158 8
9 COSM10654 TP53 skin,face,carcinoma,basal cell carcinoma c.637C>T p.R213* 17:7674894-7674894 8
10 COSM44552 TP53 skin,face,carcinoma,basal cell carcinoma c.509C>T p.T170M 17:7675103-7675103 8
11 COSM10726 TP53 skin,face,carcinoma,basal cell carcinoma c.856G>A p.E286K 17:7673764-7673764 8
12 COSM10992 TP53 skin,face,carcinoma,basal cell carcinoma c.844C>G p.R282G 17:7673776-7673776 8
13 COSM10705 TP53 skin,face,carcinoma,basal cell carcinoma c.586C>T p.R196* 17:7674945-7674945 8
14 COSM11073 TP53 skin,face,carcinoma,basal cell carcinoma c.1024C>T p.R342* 17:7670685-7670685 8
15 COSM45733 TP53 skin,face,carcinoma,basal cell carcinoma c.432G>A p.Q144Q 17:7675180-7675180 8
16 COSM43700 TP53 skin,face,carcinoma,basal cell carcinoma c.712T>A p.C238S 17:7674251-7674251 8
17 COSM44227 TP53 skin,face,carcinoma,basal cell carcinoma c.854A>T p.E285V 17:7673766-7673766 8
18 COSM44435 TP53 skin,face,carcinoma,basal cell carcinoma c.96+1G>A p.? 17:7676381-7676381 8
19 COSM43920 TP53 skin,face,carcinoma,basal cell carcinoma c.680C>T p.S227F 17:7674283-7674283 8
20 COSM44436 TP53 skin,face,carcinoma,basal cell carcinoma c.375+2T>C p.? 17:7675992-7675992 8
21 COSM43596 TP53 skin,face,carcinoma,basal cell carcinoma c.841G>A p.D281N 17:7673779-7673779 8
22 COSM11084 TP53 skin,face,carcinoma,basal cell carcinoma c.517G>A p.V173M 17:7675095-7675095 8
23 COSM43742 TP53 skin,face,carcinoma,basal cell carcinoma c.419C>T p.T140I 17:7675193-7675193 8
24 COSM10887 TP53 skin,face,carcinoma,basal cell carcinoma c.833C>G p.P278R 17:7673787-7673787 8
25 COSM44241 TP53 skin,face,carcinoma,basal cell carcinoma c.592G>T p.E198* 17:7674939-7674939 8
26 COSM13233 SUFU skin,face,carcinoma,basal cell carcinoma c.591C>T p.F197F 10:102592718-102592718 8
27 COSM13234 SUFU skin,face,carcinoma,basal cell carcinoma c.560C>T p.P187L 10:102592687-102592687 8
28 COSM3942016 SMO skin,face,carcinoma,basal cell carcinoma c.1376C>T p.A459V 7:129209307-129209307 8
29 COSM13144 SMO skin,face,carcinoma,basal cell carcinoma c.1598G>A p.S533N 7:129210494-129210494 8
30 COSM13145 SMO skin,face,carcinoma,basal cell carcinoma c.595C>T p.R199W 7:129205260-129205260 8
31 COSM216037 SMO skin,face,carcinoma,basal cell carcinoma c.1234C>T p.L412F 7:129206557-129206557 8
32 COSM13240 SMO skin,face,carcinoma,basal cell carcinoma c.1955C>T p.A652V 7:129212042-129212042 8
33 COSM17598 PTCH1 skin,face,carcinoma,basal cell carcinoma c.550C>T p.Q184* 9:95485719-95485719 8
34 COSM29147 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1356T>G p.Y452* 9:95477694-95477694 8
35 COSM17511 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3583A>T p.T1195S 9:95449290-95449290 8
36 COSM17522 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3586C>T p.P1196S 9:95449287-95449287 8
37 COSM17495 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1229G>A p.S410N 9:95478173-95478173 8
38 COSM14439 PTCH1 skin,face,carcinoma,basal cell carcinoma c.992C>T p.S331F 9:95480044-95480044 8
39 COSM17601 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2011C>T p.H671Y 9:95468990-95468990 8
40 COSM17584 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2105C>T p.P702L 9:95468896-95468896 8
41 COSM17532 PTCH1 skin,face,carcinoma,basal cell carcinoma c.768G>A p.W256* 9:95480567-95480567 8
42 COSM14446 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3054G>A p.W1018* 9:95458127-95458127 8
43 COSM26377 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3449+1G>A p.? 9:95453477-95453477 8
44 COSM17473 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2308C>T p.R770* 9:95467368-95467368 8
45 COSM17599 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2120C>T p.S707F 9:95468881-95468881 8
46 COSM17533 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2251-1G>A p.? 9:95467426-95467426 8
47 COSM29033 PTCH1 skin,face,carcinoma,basal cell carcinoma c.2038G>T p.E680* 9:95468963-95468963 8
48 COSM29043 PTCH1 skin,face,carcinoma,basal cell carcinoma c.1634G>A p.G545E 9:95476128-95476128 8
49 COSM29071 PTCH1 skin,face,carcinoma,basal cell carcinoma c.3549+5G>A p.? 9:95449836-95449836 8
50 COSM29046 PTCH1 skin,face,carcinoma,basal cell carcinoma c.747-1G>A p.? 9:95480589-95480589 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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