Details of Disease

Disease Name

leiomyomatous tumour; leiomyomatous tumor; leiomyomatous neoplasm (morphologic abnormality); leiomyomatous neoplasm; leiomyoma, benign; leiomyoma; fibroid tumour; fibroid tumor; fibroid neoplasm; fibroid

Definition

A well-circumscribed benign smooth muscle neoplasm characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern.

Disease Hierarchy

:

DISLDDFN: Leiomyoma

Disease Identifiers

MONDO ID

MONDO_0001572

MESH ID

D007889

UMLS CUI

C0023267

MedGen ID

9710

SNOMED CT ID

1162890002

General Information of Disease (ID: DISLDDFN)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 37 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CR2	TT0HUN7	Limited	Biomarker	[1]
DFFA	TTYVQ9C	Limited	Biomarker	[2]
DFFB	TT2SRE0	Limited	Biomarker	[2]
GPER1	TTDSB34	Limited	Biomarker	[3]
HCAR2	TTWNV8U	Limited	Altered Expression	[4]
HMGA2	TTSTVM0	Limited	Genetic Variation	[5]
KAT6B	TTH4VJL	Limited	Genetic Variation	[6]
NACC1	TT4AQ5F	moderate	Altered Expression	[7]
TIE1	TTT4236	moderate	Altered Expression	[8]
ADAMTS4	TTYG6BU	Strong	Biomarker	[9]
BAX	TTQ57WJ	Strong	Therapeutic	[10]
CCN1	TTPK79J	Strong	Biomarker	[11]
CD6	TTMF6KC	Strong	Genetic Variation	[12]
CPN1	TT8V2KD	Strong	Biomarker	[13]
CYP17A1	TTRA5BZ	Strong	Biomarker	[14]
EZH2	TT9MZCQ	Strong	Biomarker	[15]
FGR	TTPOGS1	Strong	Altered Expression	[16]
GRIA2	TTWM461	Strong	Altered Expression	[17]
GRM2	TTXJ47W	Strong	Altered Expression	[17]
HDAC8	TTT6LFV	Strong	Genetic Variation	[18]
HOXA11	TTEX4ZA	Strong	Biomarker	[19]
HSD17B2	TT0PT1R	Strong	Altered Expression	[20]
MKI67	TTB4UNG	Strong	Biomarker	[21]
MUC16	TTC1PS3	Strong	Genetic Variation	[22]
NLRC5	TTWZC78	Strong	Altered Expression	[23]
PARP1	TTVDSZ0	Strong	Therapeutic	[24]
PRLR	TTBPXMA	Strong	Biomarker	[25]
RXFP1	TTMAHD1	Strong	Altered Expression	[26]
SLC27A4	TT20AYF	Strong	Altered Expression	[13]
SMAD3	TTHQZV7	Strong	Biomarker	[27]
TACR2	TTYO0A3	Strong	Altered Expression	[28]
TACR3	TTBPGLU	Strong	Biomarker	[29]
TGFBR1	TTP4520	Strong	Biomarker	[30]
TKTL1	TTNQ1J3	Strong	Altered Expression	[31]
TRIM27	TTTO3QN	Strong	Altered Expression	[32]
ESR1	TTZAYWL	Definitive	Genetic Variation	[33]
INHBA	TTVB30D	Definitive	Biomarker	[27]
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⏷ Show the Full List of 37 DTT(s)

This Disease Is Related to 4 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC27A1	DTKDTML	Strong	Altered Expression	[13]
SLC27A6	DTG4CWJ	Strong	Altered Expression	[13]
SLC5A3	DT8ACN1	Strong	Altered Expression	[34]
SLC7A8	DTJF3DX	Strong	Biomarker	[35]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CHST3	DEQIZP2	Strong	Altered Expression	[36]
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This Disease Is Related to 77 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ADCY10	OTYSTB0R	Limited	Altered Expression	[4]
DLEC1	OTMKKBUW	Limited	Altered Expression	[37]
FERMT2	OTZNPWWX	Limited	Altered Expression	[38]
FERMT3	OTFQOT3C	Limited	Altered Expression	[38]
FMOD	OT9EJ5H8	Limited	Biomarker	[39]
IFITM1	OTECO1G8	Limited	Biomarker	[40]
MAGEC3	OT0KDWZN	Limited	Altered Expression	[4]
PCP4	OTM1XXYX	Limited	Biomarker	[41]
RFTN1	OT8875JE	Limited	Altered Expression	[38]
SMTN	OT4R2TYK	Limited	Biomarker	[42]
SPINT1	OT1CLR5L	Limited	Altered Expression	[43]
TES	OTL8PP6V	Limited	Altered Expression	[44]
ANGPT4	OT881M3K	moderate	Altered Expression	[8]
TSC2	OT47LWI9	moderate	Altered Expression	[45]
ABI2	OT8GIIS5	Strong	Biomarker	[46]
ADAMTS15	OTYB6JS3	Strong	Altered Expression	[9]
ADGRV1	OTLVXHHP	Strong	Biomarker	[47]
AKAP13	OTOZAR14	Strong	Biomarker	[48]
ARNT	OTMSIEZY	Strong	Altered Expression	[49]
BET1L	OT5QVYBZ	Strong	Genetic Variation	[50]
CALD1	OTNJKJ6Q	Strong	Biomarker	[51]
CCN5	OTADU8JJ	Strong	Biomarker	[52]
CCNG1	OT17IA9L	Strong	Biomarker	[53]
COL4A5	OTHG60RE	Strong	Genetic Variation	[54]
COL4A6	OTUREU5Z	Strong	Genetic Variation	[55]
CPN2	OTYOYP14	Strong	Biomarker	[13]
CUX1	OTU1LCNJ	Strong	Biomarker	[56]
DBI	OT884QY9	Strong	Biomarker	[13]
DEPDC5	OTE70JLY	Strong	Genetic Variation	[57]
DNAJB7	OT4BOECZ	Strong	Biomarker	[58]
DPT	OTINRFC7	Strong	Altered Expression	[59]
EDEM2	OTQXYD65	Strong	Biomarker	[60]
EFNA4	OTITKZQH	Strong	Biomarker	[61]
FAM9A	OTBKCFQT	Strong	Posttranslational Modification	[18]
FBLN1	OT5MHHOP	Strong	Altered Expression	[62]
FZD2	OT952ML1	Strong	Altered Expression	[63]
GNRH2	OTORRM53	Strong	Altered Expression	[64]
HOXA10	OTB6GQ09	Strong	Altered Expression	[19]
KANSL1	OTYNSNNZ	Strong	Genetic Variation	[65]
KLF11	OTKVQDJD	Strong	Genetic Variation	[66]
LAMB1	OT6J9LJR	Strong	Altered Expression	[67]
LAT2	OTWJDKIH	Strong	Biomarker	[68]
LTBP1	OTR7Q75L	Strong	Altered Expression	[69]
LTBP2	OTS88GSD	Strong	Biomarker	[70]
MAP2	OT6UYT3X	Strong	Altered Expression	[71]
MED8	OTSIZ1I7	Strong	Genetic Variation	[72]
MEST	OT8Q4U8Y	Strong	Altered Expression	[73]
MMRN1	OT7ZNYHT	Strong	Biomarker	[74]
NCOA1	OTLIUJQD	Strong	Altered Expression	[16]
NCOA2	OTMQFPBB	Strong	Altered Expression	[16]
NCOR1	OT04XNOU	Strong	Altered Expression	[26]
NCOR2	OTY917X0	Strong	Altered Expression	[26]
NEUROG1	OTMJZP9G	Strong	Biomarker	[75]
NFAT5	OTKIE59S	Strong	Altered Expression	[34]
OSCP1	OTZ4IFGJ	Strong	Altered Expression	[76]
PBX3	OT8WMVM4	Strong	Genetic Variation	[65]
PCDH11X	OTLICG18	Strong	Genetic Variation	[18]
PLAG1	OTT9AJQY	Strong	Altered Expression	[65]
PLD5	OTEVPYNY	Strong	Altered Expression	[77]
PLP1	OT8CM9CX	Strong	Altered Expression	[78]
PPP4C	OT4B0TNV	Strong	Altered Expression	[79]
PRLHR	OT1THGOP	Strong	Altered Expression	[80]
RBP1	OTRP1MFC	Strong	Altered Expression	[81]
RXFP2	OT7SAT9U	Strong	Altered Expression	[26]
SALL1	OTYYZGLH	Strong	Altered Expression	[82]
SDHB	OTRE1M1T	Strong	Genetic Variation	[83]
SEC62	OTCWEL5F	Strong	Altered Expression	[66]
SFRP1	OT0U9G41	Strong	Altered Expression	[84]
SNIP1	OTL3RA91	Strong	Genetic Variation	[85]
SNRPN	OTQB1ID1	Strong	Genetic Variation	[86]
SPIN1	OT69VAOX	Strong	Biomarker	[87]
TAC3	OTOJGM38	Strong	Altered Expression	[29]
TBPL2	OTDEC1KO	Strong	Biomarker	[88]
TET3	OT76U3YF	Strong	Altered Expression	[89]
TFAP2C	OTUDIW05	Strong	Altered Expression	[90]
TNRC6B	OTGVT0SH	Strong	Genetic Variation	[50]
MED12	OTQZ4D2X	Definitive	Genetic Variation	[91]
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⏷ Show the Full List of 77 DOT(s)

References

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2	DNA fragmentation factors 40 and 45 (DFF40/DFF45) and B-cell lymphoma 2 (Bcl-2) protein are underexpressed in uterine leiomyosarcomas and may predict survival.Onco Targets Ther. 2017 Sep 14;10:4579-4589. doi: 10.2147/OTT.S142979. eCollection 2017.
3	Bisphenol A promotes the proliferation of leiomyoma cells by GPR30-EGFR signaling pathway.J Obstet Gynaecol Res. 2019 Jul;45(7):1277-1285. doi: 10.1111/jog.13972. Epub 2019 Apr 23.
4	Increased infiltration of M2-macrophages, T-cells and PD-L1 expression in high grade leiomyosarcomas supports immunotherapeutic strategies.Oncoimmunology. 2017 Oct 26;7(2):e1386828. doi: 10.1080/2162402X.2017.1386828. eCollection 2018.
5	Genetic Characterization of Myoid Hamartoma of the Breast.Cancer Genomics Proteomics. 2019 Nov-Dec;16(6):563-568. doi: 10.21873/cgp.20158.
6	Leiomyoma with KAT6B-KANSL1 fusion: case report of a rapidly enlarging uterine mass in a postmenopausal woman.Diagn Pathol. 2019 Apr 25;14(1):32. doi: 10.1186/s13000-019-0809-1.
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24	Towards non-surgical therapy for uterine fibroids: catechol-O-methyl transferase inhibitor shrinks uterine fibroid lesions in the Eker rat model.Hum Reprod. 2011 Nov;26(11):3008-18. doi: 10.1093/humrep/der280. Epub 2011 Sep 6.
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26	Relaxin signaling in uterine fibroids.Ann N Y Acad Sci. 2009 Apr;1160:374-8. doi: 10.1111/j.1749-6632.2008.03803.x.
27	A high concentration of genistein down-regulates activin A, Smad3 and other TGF-beta pathway genes in human uterine leiomyoma cells. Exp Mol Med. 2012 Apr 30;44(4):281-92.
28	Altered expression of the tachykinins substance P/neurokinin A/hemokinin-1 and their preferred neurokinin 1/neurokinin 2 receptors in uterine leiomyomata.Fertil Steril. 2016 Nov;106(6):1521-1529. doi: 10.1016/j.fertnstert.2016.07.007. Epub 2016 Jul 25.
29	Differentially regulated expression of neurokinin B (NKB)/NK3 receptor system in uterine leiomyomata.Hum Reprod. 2013 Jul;28(7):1799-808. doi: 10.1093/humrep/det128. Epub 2013 May 8.
30	Tumor-specific efficacy of transforming growth factor-beta RI inhibition in Eker rats.Clin Cancer Res. 2007 May 15;13(10):3087-99. doi: 10.1158/1078-0432.CCR-06-1811.
31	Glucose metabolism of malignant cells is not regulated by transketolase-like (TKTL)-1.Int J Oncol. 2010 Aug;37(2):265-71. doi: 10.3892/ijo_00000674.
32	A high-throughput open-array qPCR gene panel to identify housekeeping genes suitable for myometrium and leiomyoma expression analysis.Gynecol Oncol. 2014 Jul;134(1):138-43. doi: 10.1016/j.ygyno.2014.04.012. Epub 2014 Apr 24.
33	Analysis of estrogen and progesterone receptor gene polymorphisms in leiomyoma.J Clin Lab Anal. 2019 Mar;33(3):e22704. doi: 10.1002/jcla.22704. Epub 2018 Nov 2.
34	Gonadotropin-releasing hormone agonist increases expression of osmotic response genes in leiomyoma cells.Fertil Steril. 2011 Jun;95(7):2383-7. doi: 10.1016/j.fertnstert.2011.03.084. Epub 2011 Apr 15.
35	Progesterone and mifepristone regulate L-type amino acid transporter 2 and 4F2 heavy chain expression in uterine leiomyoma cells.J Clin Endocrinol Metab. 2009 Nov;94(11):4533-9. doi: 10.1210/jc.2009-1286. Epub 2009 Oct 6.
36	Increased expression of type I 17beta-hydroxysteroid dehydrogenase enhances in situ production of estradiol in uterine leiomyoma.J Clin Endocrinol Metab. 2004 Nov;89(11):5661-8. doi: 10.1210/jc.2003-032085.
37	Different methylation levels in the KLF4, ATF3 and DLEC1 genes in the myometrium and in corpus uteri mesenchymal tumours as assessed by MS-HRM.Pathol Res Pract. 2019 Aug;215(8):152465. doi: 10.1016/j.prp.2019.152465. Epub 2019 May 23.
38	Expression of the mitogen-inducible gene-2 (mig-2) is elevated in human uterine leiomyomas but not in leiomyosarcomas.Hum Pathol. 2004 Jan;35(1):55-60. doi: 10.1016/j.humpath.2003.08.019.
39	The role of fibromodulin in cancer pathogenesis: implications for diagnosis and therapy.Cancer Cell Int. 2019 Jun 10;19:157. doi: 10.1186/s12935-019-0870-6. eCollection 2019.
40	IFITM1 Outperforms CD10 in Differentiating Low-grade Endometrial Stromal Sarcomas From Smooth Muscle Neoplasms of the Uterus.Int J Gynecol Pathol. 2018 Jul;37(4):372-378. doi: 10.1097/PGP.0000000000000424.
41	PEP-19 overexpression in human uterine leiomyoma.Mol Hum Reprod. 2003 Nov;9(11):709-17. doi: 10.1093/molehr/gag088.
42	The Use of Smoothelin and Other Antibodies in the Diagnosis of Uterine and Soft Tissue Smooth Muscle Tumors.Appl Immunohistochem Mol Morphol. 2019 May/Jun;27(5):386-391. doi: 10.1097/PAI.0000000000000619.
43	Hepatocyte growth factor activator inhibitors (HAI-1 and HAI-2) are potential targets in uterine leiomyosarcoma.Int J Oncol. 2010 Sep;37(3):605-14. doi: 10.3892/ijo_00000709.
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48	A-Kinase Anchoring Protein 13 (AKAP13) Augments Progesterone Signaling in Uterine Fibroid Cells.J Clin Endocrinol Metab. 2019 Mar 1;104(3):970-980. doi: 10.1210/jc.2018-01216.
49	Uterine and ovarian aryl hydrocarbon receptor (AHR) and aryl hydrocarbon receptor nuclear translocator (ARNT) mRNA expression in benign and malignant gynaecological conditions.Mol Hum Reprod. 2002 Jan;8(1):75-80. doi: 10.1093/molehr/8.1.75.
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51	Subungual Leiyomyoma Presenting as Erythronychia: Case Report and Review of the Literature.J Drugs Dermatol. 2019 May 1;18(5):465-467.
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56	Mutation analysis of CDP, TP53, and KRAS in uterine leiomyomas.Mol Carcinog. 2003 Jun;37(2):61-4. doi: 10.1002/mc.10127.
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62	CCNs, fibulin-1C and S100A4 expression in leiomyoma and myometrium: inverse association with TGF-beta and regulation by TGF-beta in leiomyoma and myometrial smooth muscle cells.Mol Hum Reprod. 2006 Apr;12(4):245-56. doi: 10.1093/molehr/gal015. Epub 2006 Mar 29.
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67	Genes associated with the genesis of leiomyoma of the uterus in a commonly deleted chromosomal region at 7q22.Oncol Rep. 2005 Mar;13(3):469-72.
68	LAT1 regulates growth of uterine leiomyoma smooth muscle cells.Reprod Sci. 2010 Sep;17(9):791-7. doi: 10.1177/1933719110372419. Epub 2010 Jul 2.
69	Increased expression of latent TGF-beta binding protein-1 and fibrillin-1 in human uterine leiomyomata.Mol Hum Reprod. 2007 May;13(5):343-9. doi: 10.1093/molehr/gam007. Epub 2007 Mar 14.
70	Identification of genes with higher expression in human uterine leiomyomas than in the corresponding myometrium.Mol Hum Reprod. 2002 Mar;8(3):246-54. doi: 10.1093/molehr/8.3.246.
71	Increased expression of neurogenic factors in uterine fibroids.Hum Reprod. 2019 Nov 1;34(11):2153-2162. doi: 10.1093/humrep/dez182.
72	Highly heterogeneous genomic landscape of uterine leiomyomas bywhole exome sequencing and genome-wide arrays.Fertil Steril. 2017 Feb;107(2):457-466.e9. doi: 10.1016/j.fertnstert.2016.10.035. Epub 2016 Nov 23.
73	Imprinting and expression status of isoforms 1 and 2 of PEG1/MEST gene in uterine leiomyoma.Gynecol Obstet Invest. 2010;70(2):120-5. doi: 10.1159/000301555. Epub 2010 Mar 26.
74	Ulipristal Acetate and Extracellular Matrix Production in Human Leiomyomas In Vivo: A Laboratory Analysis of a Randomized Placebo Controlled Trial.Reprod Sci. 2018 Feb;25(2):198-206. doi: 10.1177/1933719117728802. Epub 2017 Sep 20.
75	Selective progesterone receptor modulators for fertility preservation in women with symptomatic uterine fibroids.Biol Reprod. 2017 Sep 1;97(3):337-352. doi: 10.1093/biolre/iox094.
76	Expression profiling of nuclear receptors identifies key roles of NR4A subfamily in uterine fibroids.Mol Endocrinol. 2013 May;27(5):726-40. doi: 10.1210/me.2012-1305. Epub 2013 Apr 2.
77	Fine mapping of the uterine leiomyoma locus on 1q43 close to a lncRNA in the RGS7-FH interval.Endocr Relat Cancer. 2015 Aug;22(4):633-43. doi: 10.1530/ERC-15-0208. Epub 2015 Jun 25.
78	Differential gene expression in uterine leiomyoma.J Lab Clin Med. 2003 May;141(5):297-308. doi: 10.1016/S0022-2143(03)00007-6.
79	G protein-coupled estrogen receptor 1 (GPER 1) mediates estrogen-induced, proliferation of leiomyoma cells.Gynecol Endocrinol. 2015;31(11):894-8. doi: 10.3109/09513590.2015.1092022. Epub 2015 Sep 29.
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