Details of Disease

Disease Name

Familial multiple trichoepithelioma

hereditary multiple benign cystic epithelioma; epithelioma Adenoides Cysticum of Brooke; multiple familial trichoepithelioma; epithelioma adenoides cysticum; trichoepithelioma multiple familial; Brooke-Fordyce Trichoepitheliomas; epithelioma, hereditary multiple benign cystic

Disease Hierarchy

DIS36OT6: Brooke-Spiegler syndrome

DISKZAUY: Familial multiple trichoepithelioma

Disease Identifiers

MONDO ID

MONDO_0011114

MESH ID

C536611

UMLS CUI

C1275122

OMIM ID

601606

MedGen ID

220890

Orphanet ID

867

SNOMED CT ID

403825008

General Information of Disease (ID: DISKZAUY)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 17 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
OLFM4	TTK1CX7	Limited	Biomarker	[1]
AXL	TTZPY6J	Strong	Biomarker	[2]
CA12	TTSYM0R	Strong	Biomarker	[3]
CDK9	TT1LVF2	Strong	Biomarker	[4]
CTSE	TTLXC4Q	Strong	Altered Expression	[5]
FABP1	TTIV96N	Strong	Altered Expression	[6]
GJC2	TTPOCAL	Strong	Biomarker	[7]
HSP90B1	TTFPKXQ	Strong	Altered Expression	[8]
IL18RAP	TTZUJVE	Strong	Genetic Variation	[9]
INHBA	TTVB30D	Strong	Altered Expression	[10]
ITK	TT3C80U	Strong	Biomarker	[11]
JMJD1C	TTBISK4	Strong	Genetic Variation	[12]
KLK7	TTE6GTB	Strong	Altered Expression	[13]
MAGEA6	TTJIWMO	Strong	Altered Expression	[14]
RORC	TTGV6LY	Strong	Altered Expression	[15]
SLC10A2	TTPI1M5	Strong	Biomarker	[16]
SRR	TTZFUY6	Strong	Biomarker	[17]
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⏷ Show the Full List of 17 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC35A2	DT0567K	Strong	Genetic Variation	[18]
SLC52A3	DTBVQIO	Strong	Genetic Variation	[19]
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This Disease Is Related to 51 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MEGF8	OT5G38CH	Limited	Biomarker	[20]
CYLD	OT37FKH0	Supportive	Autosomal dominant	[21]
RAP1GAP	OTC31ONQ	moderate	Altered Expression	[22]
ARID1A	OTRWDV3P	Strong	Genetic Variation	[23]
BARX1	OT2VP73H	Strong	Genetic Variation	[24]
BNC2	OTU22H9Z	Strong	Biomarker	[25]
C6orf120	OTPBRZZR	Strong	Biomarker	[26]
C9	OT7I5FDX	Strong	Altered Expression	[27]
CAMK2G	OTHD9KJG	Strong	Biomarker	[28]
CLDN2	OTRF3D6Y	Strong	Altered Expression	[29]
CRNKL1	OTWBQNGU	Strong	Biomarker	[30]
DAD1	OTUUNQBT	Strong	Posttranslational Modification	[31]
EIF1	OTB4GZ0V	Strong	Biomarker	[17]
EIF4A2	OT08H03R	Strong	Biomarker	[15]
ELMO1	OTY2ORXK	Strong	Genetic Variation	[32]
EMX2	OT0V8OYK	Strong	Altered Expression	[33]
EPC1	OT3Q25ND	Strong	Biomarker	[34]
EPC2	OTTG0W9R	Strong	Biomarker	[34]
EPS8L3	OT7XYA2T	Strong	Biomarker	[35]
FABP12	OTZD0E3B	Strong	Genetic Variation	[35]
FABP6	OTIRQWLW	Strong	Altered Expression	[16]
FBLN1	OT5MHHOP	Strong	Biomarker	[28]
FOXF1	OT2CJZ5K	Strong	Genetic Variation	[24]
GDF7	OTNZY74B	Strong	Genetic Variation	[36]
GSTT2	OTANW3TJ	Strong	Altered Expression	[37]
HGD	OTTKLQOO	Strong	Biomarker	[38]
HOMER2	OT4JGKJF	Strong	Altered Expression	[39]
INSIG2	OTX4VY51	Strong	Biomarker	[40]
LCE1E	OTG0VXM2	Strong	Genetic Variation	[40]
MCM5	OTAHLB62	Strong	Altered Expression	[41]
MPG	OTAHW80B	Strong	Altered Expression	[42]
MUC6	OTPVL723	Strong	Altered Expression	[43]
MUS81	OTVZ4E60	Strong	Biomarker	[44]
MYO9B	OTQ94R5K	Strong	Genetic Variation	[45]
NOC2L	OTNT7R33	Strong	Biomarker	[46]
OMA1	OT0JRVY7	Strong	Biomarker	[47]
PKP1	OT9HSQ8F	Strong	Biomarker	[48]
PLCE1	OTJISZOX	Strong	Genetic Variation	[19]
PPIE	OTIE5OAD	Strong	Genetic Variation	[49]
RBM3	OTAJ7R31	Strong	Altered Expression	[50]
RFC3	OT1MS7AO	Strong	Biomarker	[51]
RIN2	OTCY73U9	Strong	Biomarker	[7]
RNF128	OTJO86CJ	Strong	Altered Expression	[17]
RNF141	OT07ANSG	Strong	Biomarker	[52]
RRAD	OTW2O4GD	Strong	Posttranslational Modification	[53]
SAFB	OTGRV2LW	Strong	Altered Expression	[54]
SEC14L3	OTGQ8GWM	Strong	Altered Expression	[55]
SERPINB4	OT88LHZ8	Strong	Altered Expression	[56]
SLC22A18	OT9C3KR4	Strong	Altered Expression	[54]
TNNT1	OT8PBOAR	Strong	Biomarker	[57]
TRIM31	OT7VW6RP	Strong	Altered Expression	[52]
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⏷ Show the Full List of 51 DOT(s)

References

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3	Carbonic anhydrases II, IX, and XII in Barrett's esophagus and adenocarcinoma.Virchows Arch. 2018 Nov;473(5):567-575. doi: 10.1007/s00428-018-2424-z. Epub 2018 Jul 31.
4	Targeting CDK9 and MCL-1 by a new CDK9/p-TEFb inhibitor with and without 5-fluorouracil in esophageal adenocarcinoma.Ther Adv Med Oncol. 2019 Jul 25;11:1758835919864850. doi: 10.1177/1758835919864850. eCollection 2019.
5	High Expression of Cathepsin E in Tissues but Not Blood of Patients with Barrett's Esophagus and Adenocarcinoma.Ann Surg Oncol. 2015 Jul;22(7):2431-8. doi: 10.1245/s10434-014-4155-y. Epub 2014 Oct 28.
6	FABP1 and Hepar expression levels in Barrett's esophagus and associated neoplasia in an Asian population.Dig Liver Dis. 2017 Oct;49(10):1104-1109. doi: 10.1016/j.dld.2017.06.014. Epub 2017 Jul 27.
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9	Genes of the interleukin-18 pathway are associated with susceptibility to Barrett's esophagus and esophageal adenocarcinoma.Am J Gastroenterol. 2012 Sep;107(9):1331-41. doi: 10.1038/ajg.2012.134. Epub 2012 Jun 5.
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11	Dusp6 inhibits epithelial-mesenchymal transition in endometrial adenocarcinoma via ERK signaling pathway.Radiol Oncol. 2019 Sep 24;53(3):307-315. doi: 10.2478/raon-2019-0034.
12	Polymorphisms in genes in the androgen pathway and risk of Barrett's esophagus and esophageal adenocarcinoma.Int J Cancer. 2016 Mar 1;138(5):1146-52. doi: 10.1002/ijc.29863. Epub 2015 Oct 5.
13	Cigarette smoke mediates epigenetic repression of miR-217 during esophageal adenocarcinogenesis.Oncogene. 2015 Oct 29;34(44):5548-59. doi: 10.1038/onc.2015.10. Epub 2015 Feb 23.
14	Investigation into the expression levels of MAGEA6 in esophageal squamous cell carcinoma and esophageal adenocarcinoma tissues.Exp Ther Med. 2019 Sep;18(3):1816-1822. doi: 10.3892/etm.2019.7735. Epub 2019 Jul 5.
15	Cap-dependent mRNA translation and the ubiquitin-proteasome system cooperate to promote ERBB2-dependent esophageal cancer phenotype.Cancer Gene Ther. 2012 Sep;19(9):609-18. doi: 10.1038/cgt.2012.39. Epub 2012 Jul 6.
16	Expression of bile acid transporting proteins in Barrett's esophagus and esophageal adenocarcinoma.Am J Gastroenterol. 2009 Feb;104(2):302-9. doi: 10.1038/ajg.2008.85. Epub 2009 Jan 27.
17	Isoforms of RNF128 Regulate the Stability of Mutant P53 in Barrett's Esophageal Cells.Gastroenterology. 2020 Feb;158(3):583-597.e1. doi: 10.1053/j.gastro.2019.10.040. Epub 2019 Nov 9.
18	High enzyme activity UGT1A1 or low activity UGT1A8 and UGT2B4 genotypes increase esophageal cancer risk.Int J Oncol. 2012 Jun;40(6):1789-96. doi: 10.3892/ijo.2012.1385. Epub 2012 Feb 22.
19	GWAS-uncovered SNPs in PLCE1 and RFT2 genes are not implicated in Dutch esophageal adenocarcinoma and squamous cell carcinoma etiology.Eur J Cancer Prev. 2013 Sep;22(5):417-9. doi: 10.1097/CEJ.0b013e32835c7f53.
20	Decreased selenium-binding protein 1 in esophageal adenocarcinoma results from posttranscriptional and epigenetic regulation and affects chemosensitivity.Clin Cancer Res. 2010 Apr 1;16(7):2009-21. doi: 10.1158/1078-0432.CCR-09-2801. Epub 2010 Mar 23.
21	Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat. 2009 Jul;30(7):1025-36. doi: 10.1002/humu.21024.
22	Rap1GAP inhibits tumor progression in endometrial cancer.Biochem Biophys Res Commun. 2017 Apr 1;485(2):476-483. doi: 10.1016/j.bbrc.2017.02.044. Epub 2017 Feb 11.
23	Distinct esophageal adenocarcinoma molecular subtype has subtype-specific gene expression and mutation patterns.BMC Genomics. 2018 Oct 24;19(1):769. doi: 10.1186/s12864-018-5165-0.
24	Supportive evidence for FOXP1, BARX1, and FOXF1 as genetic risk loci for the development of esophageal adenocarcinoma.Cancer Med. 2015 Nov;4(11):1700-4. doi: 10.1002/cam4.500. Epub 2015 Aug 15.
25	Chromosomal abnormalities and novel disease-related regions in progression from Barrett's esophagus to esophageal adenocarcinoma.Int J Cancer. 2009 Nov 15;125(10):2349-59. doi: 10.1002/ijc.24620.
26	MicroRNA-17 is downregulated in esophageal adenocarcinoma cancer stem-like cells and promotes a radioresistant phenotype.Oncotarget. 2017 Feb 14;8(7):11400-11413. doi: 10.18632/oncotarget.13940.
27	Evaluation of Serum Glycoprotein Biomarker Candidates for Detection of Esophageal Adenocarcinoma and Surveillance of Barrett's Esophagus.Mol Cell Proteomics. 2018 Dec;17(12):2324-2334. doi: 10.1074/mcp.RA118.000734. Epub 2018 Aug 10.
28	RNA sequencing of esophageal adenocarcinomas identifies novel fusion transcripts, including NPC1-MELK, arising from a complex chromosomal rearrangement.Cancer. 2017 Oct 15;123(20):3916-3924. doi: 10.1002/cncr.30837. Epub 2017 Jun 22.
29	High expression of Claudin-2 in esophageal carcinoma and precancerous lesions is significantly associated with the bile salt receptors VDR and TGR5.BMC Gastroenterol. 2017 Feb 17;17(1):33. doi: 10.1186/s12876-017-0590-0.
30	Protein coding gene CRNKL1 as a potential prognostic biomarker in esophageal adenocarcinoma.Artif Intell Med. 2017 Feb;76:1-6. doi: 10.1016/j.artmed.2017.01.002. Epub 2017 Jan 22.
31	Inactivation of p16, RUNX3, and HPP1 occurs early in Barrett's-associated neoplastic progression and predicts progression risk.Oncogene. 2005 Jun 9;24(25):4138-48. doi: 10.1038/sj.onc.1208598.
32	Exome and whole-genome sequencing of esophageal adenocarcinoma identifies recurrent driver events and mutational complexity.Nat Genet. 2013 May;45(5):478-86. doi: 10.1038/ng.2591. Epub 2013 Mar 24.
33	EMX2 is epigenetically silenced and suppresses epithelialmesenchymal transition in human esophageal adenocarcinoma.Oncol Rep. 2019 Nov;42(5):2169-2178. doi: 10.3892/or.2019.7284. Epub 2019 Aug 20.
34	In-depth characterization of the Wnt-signaling/-catenin pathway in an in vitro model of Barrett's sequence.BMC Gastroenterol. 2019 Mar 6;19(1):38. doi: 10.1186/s12876-019-0957-5.
35	Marie Unna hereditary hypotrichosis accompanied by multiple familial trichoepithelioma in a Chinese family.J Dermatol. 2019 May;46(5):413-417. doi: 10.1111/1346-8138.14811. Epub 2019 Feb 27.
36	The Barrett-associated variants at GDF7 and TBX5 also increase esophageal adenocarcinoma risk.Cancer Med. 2016 May;5(5):888-91. doi: 10.1002/cam4.641. Epub 2016 Jan 18.
37	Constitutively Higher Level of GSTT2 in Esophageal Tissues From African Americans Protects Cells Against DNA Damage.Gastroenterology. 2019 Apr;156(5):1404-1415. doi: 10.1053/j.gastro.2018.12.004. Epub 2018 Dec 19.
38	Persistent confirmed low-grade dysplasia in Barrett's esophagus is a risk factor for progression to high-grade dysplasia and adenocarcinoma in a US Veterans cohort.Dis Esophagus. 2020 Mar 5;33(2):doz061. doi: 10.1093/dote/doz061.
39	Overexpression of HOMER2 predicts better outcome in low-grade endometrioid endometrial adenocarcinoma.Pathology. 2018 Aug;50(5):499-503. doi: 10.1016/j.pathol.2018.03.004. Epub 2018 Jun 8.
40	Single nucleotide polymorphisms in obesity-related genes and the risk of esophageal cancers.Cancer Epidemiol Biomarkers Prev. 2008 Apr;17(4):1007-12. doi: 10.1158/1055-9965.EPI-08-0023.
41	Minichromosomal Maintenance Component Complex 5 (MCM5) as a Marker of Barrett's Esophagus-Related Neoplasia: A Feasibility Study.Dig Dis Sci. 2019 Oct;64(10):2815-2822. doi: 10.1007/s10620-019-05607-5. Epub 2019 Apr 13.
42	Diagnostic correlation between the expression of the DNA repair enzyme N-methylpurine DNA glycosylase and esophageal adenocarcinoma onset: a retrospective pilot study.Dis Esophagus. 2013 Aug;26(6):644-50. doi: 10.1111/dote.12003. Epub 2012 Nov 8.
43	Mucin Expression in the Esophageal Malignant and Pre-malignant States: A Systematic Review and Meta-analysis.J Clin Gastroenterol. 2018 Feb;52(2):91-96. doi: 10.1097/MCG.0000000000000863.
44	Translational study identifies XPF and MUS81 as predictive biomarkers for oxaliplatin-based peri-operative chemotherapy in patients with esophageal adenocarcinoma.Sci Rep. 2018 May 8;8(1):7265. doi: 10.1038/s41598-018-24232-2.
45	Myo9B is associated with an increased risk of Barrett's esophagus and esophageal adenocarcinoma.Scand J Gastroenterol. 2012 Dec;47(12):1422-8. doi: 10.3109/00365521.2012.722673. Epub 2012 Sep 7.
46	Tyrosine kinase inhibitor induced growth factor receptor upregulation enhances the efficacy of near-infrared targeted photodynamic therapy in esophageal adenocarcinoma cell lines.Oncotarget. 2017 May 2;8(18):29846-29856. doi: 10.18632/oncotarget.16165.
47	Genome-wide methylation analysis shows similar patterns in Barrett's esophagus and esophageal adenocarcinoma.Carcinogenesis. 2013 Dec;34(12):2750-6. doi: 10.1093/carcin/bgt286. Epub 2013 Aug 29.
48	Aberrantly methylated PKP1 in the progression of Barrett's esophagus to esophageal adenocarcinoma.Genes Chromosomes Cancer. 2012 Apr;51(4):384-93. doi: 10.1002/gcc.21923. Epub 2011 Dec 14.
49	Next-generation sequencing of endoscopic biopsies identifies ARID1A as a tumor-suppressor gene in Barrett's esophagus.Oncogene. 2014 Jan 16;33(3):347-57. doi: 10.1038/onc.2012.586. Epub 2013 Jan 14.
50	Reduced RBM3 expression is associated with aggressive tumor features in esophageal cancer but not significantly linked to patient outcome.BMC Cancer. 2018 Nov 12;18(1):1106. doi: 10.1186/s12885-018-5032-z.
51	Integrative genomics identified RFC3 as an amplified candidate oncogene in esophageal adenocarcinoma.Clin Cancer Res. 2012 Apr 1;18(7):1936-46. doi: 10.1158/1078-0432.CCR-11-1431. Epub 2012 Feb 10.
52	RING finger proteins are involved in the progression of barrett esophagus to esophageal adenocarcinoma: a preliminary study.Gut Liver. 2014 Sep;8(5):487-94. doi: 10.5009/gnl13133. Epub 2014 Feb 24.
53	Aberrant methylation of the Ras-related associated with diabetes gene in human primary esophageal cancer.Anticancer Res. 2013 Nov;33(11):5199-203.
54	The decreased expression of Beclin-1 correlates with progression to esophageal adenocarcinoma: the role of deoxycholic acid.Am J Physiol Gastrointest Liver Physiol. 2012 Apr 15;302(8):G864-72. doi: 10.1152/ajpgi.00340.2011. Epub 2012 Feb 2.
55	Trastuzumab mediated T-cell response against HER-2/neu overexpressing esophageal adenocarcinoma depends on intact antigen processing machinery.PLoS One. 2010 Aug 26;5(8):e12424. doi: 10.1371/journal.pone.0012424.
56	Squamous cell carcinoma antigen 1 is associated to poor prognosis in esophageal cancer through immune surveillance impairment and reduced chemosensitivity.Cancer Sci. 2019 May;110(5):1552-1563. doi: 10.1111/cas.13986. Epub 2019 Apr 15.
57	Molecular Analysis of Mixed Endometrioid and Serous Adenocarcinoma of the Endometrium.PLoS One. 2015 Jul 1;10(7):e0130909. doi: 10.1371/journal.pone.0130909. eCollection 2015.