MCID: LMY013
MIFTS: 47

Leiomyoma, Uterine, Somatic malady

Categories: Genetic diseases (common), Cancer diseases

Aliases & Classifications for Leiomyoma, Uterine, Somatic

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Aliases & Descriptions for Leiomyoma, Uterine, Somatic:

Name: Leiomyoma, Uterine, Somatic 52 24 12
Plexiform Leiomyoma 11 68
Leiomyoma, Uterine 24 27
Uterine Leiomyoma 11 50
Uterine Fibroids 38 68
 
Uterine Fibroid 11 13
Leiomyoma of Corpus Uteri 11
Uterus Fibroma 11
Ul 24

Characteristics:

HPO:

64
leiomyoma, uterine, somatic:
Inheritance: autosomal dominant inheritance, somatic mutation

Classifications:



External Ids:

OMIM52 150699
Disease Ontology11 DOID:13223
ICD1030 D25, D25.9
ICD9CM32 218, 218.9
MeSH39 D007889
NCIt45 C3434

Summaries for Leiomyoma, Uterine, Somatic

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MedlinePlus:38 Uterine fibroids are the most common benign tumors in women of childbearing age. fibroids are made of muscle cells and other tissues that grow in and around the wall of the uterus, or womb. the cause of fibroids is unknown. risk factors include being african american or being overweight. many women with fibroids have no symptoms. if you do have symptoms, they may include heavy or painful periods or bleeding between periods feeling "full" in the lower abdomen urinating often pain during sex lower back pain reproductive problems, such as infertility, multiple miscarriages or early labor your health care provider may find fibroids during a gynecological exam or by using imaging tests. treatment includes drugs that can slow or stop their growth, or surgery. if you have no symptoms, you may not even need treatment. many women with fibroids can get pregnant naturally. for those who cannot, infertility treatments may help. nih: national institute of child health and human development

MalaCards based summary: Leiomyoma, Uterine, Somatic, also known as plexiform leiomyoma, is related to breast cancer and submucous uterine fibroid, and has symptoms including uterine leiomyoma, pelvic pain and pelvic pain. An important gene associated with Leiomyoma, Uterine, Somatic is HMGA2 (High Mobility Group AT-Hook 2), and among its related pathways are Nuclear Receptor transcription pathway and Ovarian Infertility Genes. Affiliated tissues include uterus, smooth muscle and testes, and related mouse phenotypes are Increased cell death in breast cancer cell lines (MCF10A, MDA-MB-435) and integument.

Disease Ontology:11 A uterine benign neoplasm derived from the smooth muscle layer of the uterus.

Description from OMIM:52 150699

Related Diseases for Leiomyoma, Uterine, Somatic

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Diseases related to Leiomyoma, Uterine, Somatic via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 148)
idRelated DiseaseScoreTop Affiliating Genes
1breast cancer26.1CYP17A1, CYP19A1, EGF, ESR1, ESR2, GNRH1
2submucous uterine fibroid12.1
3subserous uterine fibroid12.1
4multiple cutaneous and uterine leiomyomas12.1
5leiomyoma11.4
6intravenous leiomyomatosis11.0
7myofibroma11.0
8vulvar angiokeratoma10.7ESR1, PGR
9ring chromosome 1010.7HMGA1, HMGA2
10central nervous system organ benign neoplasm10.7ESR1, PGR
11fallopian tube benign neoplasm10.7ESR1, PGR
12appendix leiomyoma10.7ESR1, PGR
13mixed cell adenoma10.7ESR1, PGR
14gelatinous ascites10.7ESR1, PGR
15isolated ectopia lentis10.6HMGA1, HMGA2
16pituitary-dependent cushing's disease10.6HMGA1, HMGA2
17perinatal intestinal perforation10.6ESR1, PGR
18trigeminal nerve disease10.6ESR1, PGR
19glottis verrucous carcinoma10.6ESR1, PGR
20gallbladder sarcoma10.6HMGA1, HMGA2
21bartholin's gland adenoid cystic carcinoma10.6ESR1, PGR
22bladder colonic type adenocarcinoma10.6ESR1, PGR
23adenocarcinoma in situ10.6ESR1, PGR
24gallbladder squamous cell carcinoma10.6ESR1, PGR
25amyloid tumor10.6ESR1, PGR
26mollaret meningitis10.5CYP19A1, PGR
27extracranial neuroblastoma10.5ESR1, PGR
28malignant mediastinal neurogenic neoplasm10.5ESR1, PGR
29malignant secondary hypertension10.5CYP19A1, PGR
30uterine body mixed cancer10.5ESR1, PGR
31infiltrative basal cell carcinoma10.4ESR1, PGR
32prolapse of lacrimal gland10.4CYP19A1, ESR1, PGR
33cetp-related hyperalphalipoproteinemia10.4GNRH1, IGF1
34myoclonic cerebellar dyssynergia10.4CYP19A1, ESR1, PGR
35male reproductive organ benign neoplasm10.4FH, HMGA2, IGF1
36fallopian tube germ cell cancer10.4ESR1, PGR
37progesterone-receptor positive breast cancer10.4CYP19A1, ESR1, PGR
38aromatase excess syndrome10.4CYP19A1, ESR1, GNRH1
39estrogen-receptor negative breast cancer10.4CYP19A1, ESR1, PGR
40bile duct mucoepidermoid carcinoma10.4ESR1, PGR
41myopathy10.4CYP19A1, ESR1, PGR
42adenosine monophosphate deaminase 1 deficiency10.4COMT, ESR1, PGR
43simple partial epilepsy10.4MED12, PGR
44benign prostate phyllodes tumor10.4GNRH1, HPSE2
45deafness, autosomal dominant 8/1210.4ESR1, ESR2, PGR
46small intestinal sarcoma10.3ESR1, ESR2, PGR
47prolactin producing pituitary tumor10.3ESR1, GNRH1, IGF1
48pleural empyema10.3CYP19A1, GNRH1, IGF1
49pineal region meningioma10.3ESR1, ESR2, PGR
50nodular degeneration of cornea10.3ESR1, ESR2, PGR

Graphical network of the top 20 diseases related to Leiomyoma, Uterine, Somatic:



Diseases related to leiomyoma, uterine, somatic

Symptoms & Phenotypes for Leiomyoma, Uterine, Somatic

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Symptoms by clinical synopsis from OMIM:

150699

Clinical features from OMIM:

150699

Human phenotypes related to Leiomyoma, Uterine, Somatic:

 64
id Description HPO Frequency HPO Source Accession
1 uterine leiomyoma64 HP:0000131

UMLS symptoms related to Leiomyoma, Uterine, Somatic:


pelvic pain

GenomeRNAi Phenotypes related to Leiomyoma, Uterine, Somatic according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00104-A-09.4ESR1, ESR2, FH, IGF2, RAD51B

MGI Mouse Phenotypes related to Leiomyoma, Uterine, Somatic according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00107718.1CYP19A1, EGF, ESR1, ESR2, GNRH1, IGF1
2MP:00028738.0CYP19A1, EGF, ESR1, ESR2, GNRH1, IGF1
3MP:00053717.9CYP17A1, ESR1, ESR2, IGF1, IGF2, MED12
4MP:00053817.8CYP19A1, EGF, ESR1, ESR2, GNRH1, HPSE2
5MP:00053857.8COMT, CYP19A1, ESR1, ESR2, IGF1, IGF2
6MP:00053677.7COMT, CYP19A1, ESR1, ESR2, FH, GNRH1
7MP:00053797.7COMT, CYP19A1, EGF, ESR1, ESR2, GNRH1
8MP:00053877.7COMT, CYP19A1, EGF, ESR1, ESR2, GNRH1
9MP:00053847.5CYP17A1, CYP19A1, ESR1, ESR2, FH, IGF1
10MP:00053897.1COMT, CYP17A1, CYP19A1, EGF, ESR1, ESR2
11MP:00053786.9CYP19A1, EGF, ESR1, ESR2, GNRH1, HPSE2
12MP:00107686.9CYP17A1, ESR1, ESR2, FH, HPSE2, IGF1
13MP:00053766.8COMT, CYP17A1, CYP19A1, ESR1, ESR2, FH
14MP:00053906.5CYP17A1, CYP19A1, ESR1, ESR2, GNRH1, IGF1

Drugs & Therapeutics for Leiomyoma, Uterine, Somatic

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Drugs for Leiomyoma, Uterine, Somatic (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Bevacizumabapproved, investigationalPhase 21968216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
2
MetforminapprovedPhase 1, Phase 21746657-24-914219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMGG
Diabetosan
Diabex
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
3Hypoglycemic AgentsPhase 1, Phase 25733
4Protein Kinase InhibitorsPhase 23612
5
Erlotinib HydrochloridePhase 2798183319-69-9176871
Synonyms:
 
erlotinib hydrochloride
6Angiogenesis Modulating AgentsPhase 24072
7Angiogenesis InhibitorsPhase 24143

Interventional clinical trials:

idNameStatusNCT IDPhase
1A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell CancerRecruitingNCT01130519Phase 2
2Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell CarcinomaRecruitingNCT02495103Phase 1, Phase 2
3Somatic Stem Cells in Leiomyomas?CompletedNCT01592903

Search NIH Clinical Center for Leiomyoma, Uterine, Somatic

Genetic Tests for Leiomyoma, Uterine, Somatic

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Genetic tests related to Leiomyoma, Uterine, Somatic:

id Genetic test Affiliating Genes
1 Uterine Leiomyoma27
2 Leiomyoma, Uterine, Somatic24 HMGA2

Anatomical Context for Leiomyoma, Uterine, Somatic

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MalaCards organs/tissues related to Leiomyoma, Uterine, Somatic:

36
Uterus, Smooth muscle, Testes, Kidney

Publications for Leiomyoma, Uterine, Somatic

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Variations for Leiomyoma, Uterine, Somatic

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Copy number variations for Leiomyoma, Uterine, Somatic from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
170739126450370364646338DuplicationHMGA2Uterine leiomyoma
22309388100959547100975071TranslateCOX6CUterine leiomyoma

Expression for genes affiliated with Leiomyoma, Uterine, Somatic

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Search GEO for disease gene expression data for Leiomyoma, Uterine, Somatic.

Pathways for genes affiliated with Leiomyoma, Uterine, Somatic

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Pathways related to Leiomyoma, Uterine, Somatic according to GeneCards Suite gene sharing:

(show all 16)
idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6ESR1, ESR2, PGR
29.5CYP19A1, ESR2, PGR
39.5CYP19A1, ESR1, ESR2
49.5ESR1, ESR2, TGFB3
59.4CYP17A1, CYP19A1, IGF1
6
Show member pathways
9.3COMT, CYP17A1, CYP19A1
79.2EGF, IGF1, TGFB3
8
Show member pathways
8.8EGF, ESR1, ESR2, IGF1
98.8EGF, ESR1, ESR2, IGF1
10
Show member pathways
8.7EGF, IGF1, IGF2
118.7EGF, IGF1, IGF2
128.5ESR1, HPSE2, IGF1, IGF2
13
Show member pathways
8.1EGF, GNRH1, IGF1, IGF2, TGFB3
148.1EGF, GNRH1, IGF1, IGF2, TGFB3
15
Show member pathways
8.1EGF, GNRH1, IGF1, IGF2, TGFB3
16
Show member pathways
7.4EGF, ESR1, ESR2, GNRH1, IGF1, IGF2

GO Terms for genes affiliated with Leiomyoma, Uterine, Somatic

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Cellular components related to Leiomyoma, Uterine, Somatic according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1perikaryonGO:004320410.0ESR1, ESR2, GNRH1
2senescence-associated heterochromatin focusGO:003598510.0HMGA1, HMGA2
3platelet alpha granule lumenGO:00310938.4EGF, IGF1, IGF2, TGFB3

Biological processes related to Leiomyoma, Uterine, Somatic according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1oncogene-induced cell senescenceGO:009040210.8HMGA1, HMGA2
2positive regulation of cellular senescenceGO:200077410.8HMGA1, HMGA2
3senescence-associated heterochromatin focus assemblyGO:003598610.7HMGA1, HMGA2
4androgen metabolic processGO:000820910.7CYP19A1, ESR1
5positive regulation of transcription regulatory region DNA bindingGO:200067910.7HMGA2, IGF1
6intracellular estrogen receptor signaling pathwayGO:003052010.6ESR1, ESR2
7Sertoli cell developmentGO:006000910.6ESR1, ESR2
8Sertoli cell proliferationGO:006001110.6ESR1, ESR2
9intracellular steroid hormone receptor signaling pathwayGO:003051810.5ESR1, MED12
10embryonic neurocranium morphogenesisGO:004870210.4MED12, TGFB3
11mammary gland alveolus developmentGO:006074910.4EGF, ESR1
12positive regulation of sequence-specific DNA binding transcription factor activityGO:005109110.4ESR1, ESR2, HMGA2
13response to insecticideGO:001708510.4CYP17A1, ESR2
14cellular response to estradiol stimulusGO:007139210.3ESR1, ESR2, IGF1
15negative regulation of neuron deathGO:190121510.3ESR1, ESR2, IGF1
16response to estrogenGO:004362710.2ESR1, ESR2, TGFB3
17negative regulation of smooth muscle cell proliferationGO:004866210.2COMT, ESR1, ESR2
18positive regulation of glycogen biosynthetic processGO:004572510.1IGF1, IGF2
19activation of MAPK activityGO:000018710.0EGF, IGF1, TGFB3
20response to nutrient levelsGO:00316679.5CYP17A1, ESR2, IGF2
21positive regulation of mitotic nuclear divisionGO:00458409.5EGF, IGF1, IGF2
22positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.5EGF, IGF1, IGF2
23platelet degranulationGO:00025769.2EGF, IGF1, IGF2, TGFB3
24female pregnancyGO:00075659.1COMT, GNRH1, IGF1, IGF2, TGFB3
25transcription initiation from RNA polymerase II promoterGO:00063679.1ESR1, ESR2, MED12, PGR
26signal transductionGO:00071658.7EGF, ESR1, ESR2, GNRH1, HMGA2, IGF1
27positive regulation of transcription from RNA polymerase II promoterGO:00459448.7ESR1, ESR2, HMGA1, HMGA2, IGF1, MED12
28positive regulation of cell proliferationGO:00082848.5EGF, HMGA2, HPSE2, IGF1, IGF2, RAD51B
29positive regulation of transcription, DNA-templatedGO:00458938.3EGF, ESR1, ESR2, HMGA1, HMGA2, IGF1

Molecular functions related to Leiomyoma, Uterine, Somatic according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1AT DNA bindingGO:000368010.7HMGA1, HMGA2
2estrogen receptor activityGO:003028410.5ESR1, ESR2
3estrogen response element bindingGO:003405610.5ESR1, ESR2
4RNA polymerase II transcription factor activity, estrogen-activated sequence-specific DNA bindingGO:003805210.4ESR1, ESR2
5peroxisome proliferator activated receptor bindingGO:004297510.4ESR2, HMGA1
6steroid hormone receptor activityGO:000370710.2ESR1, ESR2, PGR
7insulin-like growth factor receptor bindingGO:00051599.9IGF1, IGF2
8steroid bindingGO:00054969.9ESR1, ESR2, IGF1, PGR
9enzyme bindingGO:00198999.8ESR1, ESR2, HMGA1, HMGA2, PGR
10hormone activityGO:00051799.7GNRH1, IGF1, IGF2
11transcription factor bindingGO:00081349.2ESR1, HMGA1, HMGA2, MED12
12growth factor activityGO:00080839.0EGF, IGF1, IGF2, TGFB3

Sources for Leiomyoma, Uterine, Somatic

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet