MCID: LMY003
MIFTS: 46

Leiomyomatosis

Categories: Cancer diseases

Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 12 56 45 15 74
Leiomyomatosis, No Icd-O Subtype 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 45 D018231
NCIt 51 C3748
SNOMED-CT 69 75210008
UMLS 74 C0206654

Summaries for Leiomyomatosis

Disease Ontology : 12 A leiomyoma that is multiple and diffuse.

MalaCards based summary : Leiomyomatosis, also known as leiomyomatosis, no icd-o subtype, is related to hereditary leiomyomatosis and renal cell cancer and diffuse peritoneal leiomyomatosis. An important gene associated with Leiomyomatosis is FH (Fumarate Hydratase), and among its related pathways/superpathways are Integrin Pathway and Phospholipase-C Pathway. The drugs Ethanol and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, breast and smooth muscle, and related phenotypes are homeostasis/metabolism and mortality/aging

Wikipedia : 77 A leiomyoma, also known as fibroids, is a benign smooth muscle tumor that very rarely becomes cancer... more...

Related Diseases for Leiomyomatosis

Diseases related to Leiomyomatosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 171)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 34.5 FH SDHB
2 diffuse peritoneal leiomyomatosis 33.3 ESR1 MED12 PGR
3 endometriosis 30.6 ESR1 GNRH1 PGR
4 leiomyoma, uterine 30.4 ESR1 FH PGR
5 leiomyosarcoma 30.2 FH MED12 PGR
6 vulvar leiomyoma 30.0 ESR1 PGR
7 endometriosis of ovary 30.0 ESR1 PGR
8 pneumothorax 29.7 GNRH1 PGR
9 adenomyosis 29.7 ESR1 GNRH1 PGR
10 myoma 29.6 ESR1 GNRH1 MED12 PGR
11 leiomyoma 29.4 COL4A5 COL4A6 ESR1 FH GNRH1 MED12
12 intravenous leiomyomatosis 12.7
13 disseminated peritoneal leiomyomatosis 12.6
14 leiomyomatosis, diffuse, with alport syndrome 12.4
15 uterus intravascular leiomyomatosis 12.3
16 uterine corpus diffuse leiomyomatosis 12.3
17 uterine corpus leiomyomatosis 12.1
18 leiomyomatosis of esophagus, cataract and hematuria 12.0
19 x-linked alport syndrome-diffuse leiomyomatosis 12.0
20 leiomyoma of vulva and esophagus 11.6
21 renal cell carcinoma, papillary, 1 11.4
22 renal cell carcinoma, nonpapillary 10.7
23 alport syndrome 10.6
24 kidney cancer 10.3
25 benign metastasizing leiomyoma 10.2
26 vestibular gland benign neoplasm 10.2 ESR1 PGR
27 bartholin's gland adenoma 10.2 ESR1 PGR
28 vulvar syringoma 10.2 ESR1 PGR
29 lung leiomyoma 10.2 ESR1 PGR
30 glassy cell carcinoma of the cervix 10.2 ESR1 PGR
31 vulvar benign neoplasm 10.2 ESR1 PGR
32 trigonitis 10.2 ESR1 PGR
33 predominantly cortical thymoma 10.2 ESR1 PGR
34 breast medullary carcinoma 10.2 ESR1 PGR
35 breast scirrhous carcinoma 10.2 ESR1 PGR
36 bartholin's gland benign neoplasm 10.2 ESR1 PGR
37 oncocytic breast carcinoma 10.2 ESR1 PGR
38 progesterone-receptor positive breast cancer 10.2 ESR1 PGR
39 progesterone resistance 10.2 ESR1 PGR
40 endometrial squamous cell carcinoma 10.2 ESR1 PGR
41 cribriform carcinoma 10.2 ESR1 PGR
42 plethora of newborn 10.2 FH SDHB
43 endometrial mucinous adenocarcinoma 10.2 ESR1 PGR
44 adenoid basal cell carcinoma 10.2 ESR1 PGR
45 apocrine adenocarcinoma 10.2 ESR1 PGR
46 gender identity disorder 10.2 ESR1 PGR
47 deep angioma 10.2 ESR1 PGR
48 synchronous bilateral breast carcinoma 10.2 ESR1 PGR
49 premenstrual tension 10.2 GNRH1 PGR
50 breast adenoid cystic carcinoma 10.2 ESR1 PGR

Graphical network of the top 20 diseases related to Leiomyomatosis:



Diseases related to Leiomyomatosis

Symptoms & Phenotypes for Leiomyomatosis

MGI Mouse Phenotypes related to Leiomyomatosis:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 COL4A3 COL4A4 COL4A5 ESR1 FH GNRH1
2 mortality/aging MP:0010768 9.76 COL4A3 COL4A4 COL4A5 ESR1 FH MED12
3 cardiovascular system MP:0005385 9.72 COL4A3 COL4A5 ESR1 MED12 PGR
4 normal MP:0002873 9.43 COL4A6 ESR1 GNRH1 MED12 PGR SDHB
5 renal/urinary system MP:0005367 9.17 COL4A3 COL4A4 COL4A5 ESR1 FH GNRH1

Drugs & Therapeutics for Leiomyomatosis

Drugs for Leiomyomatosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 5284616 6436030
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
5 Immunologic Factors Phase 4
6 Antibiotics, Antitubercular Phase 4
7 Anti-Bacterial Agents Phase 4
8 Antifungal Agents Phase 4
9 Anti-Infective Agents Phase 4
10 Immunosuppressive Agents Phase 4
11
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
12
Bevacizumab Approved, Investigational Phase 2 216974-75-3
13
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
14
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
15 Guadecitabine Investigational Phase 2 929901-49-5
16 Botulinum Toxins Phase 2
17 Acetylcholine Release Inhibitors Phase 2
18 Botulinum Toxins, Type A Phase 2
19 Neuromuscular Agents Phase 2
20 Peripheral Nervous System Agents Phase 2
21 abobotulinumtoxinA Phase 2
22 Cholinergic Agents Phase 2
23 Neurotransmitter Agents Phase 2
24 Protein Kinase Inhibitors Phase 2
25
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
26 Angiogenesis Inhibitors Phase 2
27 Angiogenesis Modulating Agents Phase 2
28 Antineoplastic Agents, Immunological Phase 2
29 Hypoglycemic Agents Phase 1, Phase 2
30 Antimetabolites Phase 2
31 Antimetabolites, Antineoplastic Phase 2
32
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Prospective Study Comparing Contour SE™ Microspheres to Embosphere® Microspheres for Treating Symptomatic Uterine Fibroids With Uterine Fibroid Embolization (UFE) Completed NCT00628901 Phase 4
2 Efficacy and Safety of Rapamycin (Sirolimus) in the Treatment of Symptomatic Uterine Fibroids and Leiomyomatosis Recruiting NCT03500367 Phase 4 rapamycin
3 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
4 A Phase II Study of Bevacizumab and Erlotinib in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) or Sporadic Papillary Renal Cell Cancer Recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
5 Vandetanib in Combination With Metformin in People With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma Recruiting NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
6 A Phase II Trial of the DNA Methyl Transferase Inhibitor, Guadecitabine (SGI-110), in Children and Adults With Wild Type GIST,Pheochromocytoma and Paraganglioma Associated With Succinate Dehydrogenase Deficiency and HLRCC-associated Kidney Cancer Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
7 Comparison Study in the Treatment of Uterine Fibroids Uterine Fibroid Embolization Using BeadBlock™ Embolic Agent Completed NCT00361036 Phase 1
8 Surgery for Intravenous Leiomyomatosis Completed NCT01707862
9 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
10 Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer Recruiting NCT00050752
11 MyVHL: Patient Natural History Study Recruiting NCT03749980
12 French National Registry of Rare Peritoneal Surface Malignancies Active, not recruiting NCT02834169
13 Establishment of Fibroid Tissue Bank Terminated NCT00710346

Search NIH Clinical Center for Leiomyomatosis

Cochrane evidence based reviews: leiomyomatosis

Genetic Tests for Leiomyomatosis

Anatomical Context for Leiomyomatosis

MalaCards organs/tissues related to Leiomyomatosis:

42
Uterus, Breast, Smooth Muscle, Heart, Kidney, Lung, Ovary

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 829)
# Title Authors Year
1
Disseminated Peritoneal Leiomyomatosis. ( 29959641 )
2019
2
Ulipristal Acetate for Disseminated Peritoneal Leiomyomatosis. ( 30741799 )
2019
3
Disseminated peritoneal leiomyomatosis, a diagnostic challenge. ( 30772089 )
2019
4
Simultaneously occurring disseminated peritoneal leiomyomatosis and multiple extrauterine adenomyomas following hysterectomy. ( 30956607 )
2019
5
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2019
6
Hereditary leiomyomatosis and renal cell cancer syndrome in which skin biopsy enabled diagnosis. ( 30888070 )
2019
7
A few pink papules in an adult woman: Incidental finding leads to diagnosis of hereditary leiomyomatosis and renal cell cancer. ( 31049386 )
2019
8
Nonthrombotic pulmonary embolism caused by intravenous leiomyomatosis: A case report. ( 30653137 )
2019
9
An unusual case of intravenous leiomyomatosis involving the right atrium. ( 30707174 )
2019
10
Identification of the molecular relationship between intravenous leiomyomatosis and uterine myoma using RNA sequencing. ( 30723247 )
2019
11
Intravenous leiomyomatosis with different surgical approaches: Three case reports. ( 30746376 )
2019
12
Intravenous leiomyomatosis manifesting as saddle embolism. ( 30898968 )
2019
13
A Challenging Case of Intracardiac Leiomyomatosis Accompanied by Pseudo-Meigs Syndrome Originating from Uterine Leiomyoma. ( 30217716 )
2019
14
Benign Metastasising Leiomyomatosis of the Lung Presenting as Progressive Pneumothorax. ( 30389364 )
2019
15
Identification of genomic copy number variations in lung benign metastasizing leiomyomatosis. ( 30597752 )
2019
16
Morcellation-Induced Leiomyomatosis Peritonealis Disseminata: A Rare Case Report. ( 30666077 )
2019
17
Prospective Detection of Germline Mutation of Fumarate Hydratase in Women With Uterine Smooth Muscle Tumors Using Pathology-based Screening to Trigger Genetic Counseling for Hereditary Leiomyomatosis Renal Cell Carcinoma Syndrome: A 5-Year Single Institutional Experience. ( 30741757 )
2019
18
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome-Associated Renal Cell Carcinoma Showing High FDG Uptake. ( 30762823 )
2019
19
Bevacizumab Plus Erlotinib Combination Therapy for Advanced Hereditary Leiomyomatosis and Renal Cell Carcinoma-Associated Renal Cell Carcinoma: A Multicenter Retrospective Analysis in Korean Patients. ( 30913859 )
2019
20
Laparoscopic Dissection of Extensive Secondary Disseminated Peritoneal Leiomyomatosis. ( 29032253 )
2018
21
Disseminated peritoneal leiomyomatosis 10 years after a laparoscopic myomectomy: A brief communication. ( 29547807 )
2018
22
Disseminated peritoneal leiomyomatosis (DPL): a case report. ( 29620425 )
2018
23
Disseminated Peritoneal Leiomyomatosis After Uterine Artery Embolization. ( 30088058 )
2018
24
Epithelial-Mesenchymal Transition with Malignant Transformation Leading Multiple Metastasis from Disseminated Peritoneal Leiomyomatosis. ( 30096934 )
2018
25
Nivolumab-Induced Encephalitis in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 29593922 )
2018
26
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2018
27
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2018
28
Gene expression analysis in peripheral blood cells of patients with hereditary leiomyomatosis and renal cell cancer syndrome (HLRCC): identification of NRF2 pathway activation. ( 29302811 )
2018
29
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 29423582 )
2018
30
Fumarate hydratase inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction. ( 29917289 )
2018
31
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings. ( 30058172 )
2018
32
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares et al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations. ( 28223207 )
2018
33
Intravenous leiomyomatosis with intracardiac extension. ( 29048548 )
2018
34
Contrast-enhanced CT findings of intravenous leiomyomatosis. ( 29395222 )
2018
35
Intravenous leiomyomatosis of the uterus: A clinicopathologic analysis of 13 cases with an emphasis on histogenesis. ( 29699902 )
2018
36
Aberrant uterine leiomyomas with extrauterine manifestation: intravenous leiomyomatosis and benign metastasizing leiomyomas. ( 30018906 )
2018
37
A Case of Intravenous Leiomyomatosis with Involvement of a Renal Vein. ( 30092420 )
2018
38
Two Case Reports of Intravenous Leiomyomatosis with Hyaluronan Expression. ( 30112233 )
2018
39
Intravenous leiomyomatosis with extension to the pulmonary artery associated with syncope. ( 30306636 )
2018
40
Multinodular esophageal leiomyomatosis: An uncommon cause of mediastinal mass. ( 29033067 )
2018
41
Is Immunohistochemical Screening of Cutaneous Leiomyomas for the Early Detection of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Justified? ( 29053494 )
2018
42
Leiomyomatosis peritonealisis disseminata: Two unusual cases with literature review. ( 29196156 )
2018
43
Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene. ( 29266330 )
2018
44
A Case Report of Sudden Death From Intracardiac Leiomyomatosis. ( 29351101 )
2018
45
Pattern multiplicity and fumarate hydratase (FH)/S-(2-succino)-cysteine (2SC) staining but not eosinophilic nucleoli with perinucleolar halos differentiate hereditary leiomyomatosis and renal cell carcinoma-associated renal cell carcinomas from kidney tumors without FH gene alteration. ( 29410489 )
2018
46
Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature. ( 29416287 )
2018
47
Surgical treatment for intravenous-cardiac leiomyomatosis. ( 29514177 )
2018
48
Multiple Cutaneous and Uterine Leiomyomatosis with Renal Involvement: Report of a Rare Association. ( 29527031 )
2018
49
One-stage surgery for removal of intravascular leiomyomatosis extending to right ventricle. ( 29538195 )
2018
50
Imaging Features of Uterine Leiomyomatosis with the Inferior Vena Cava and the Right Atrium Involvement. ( 29578134 )
2018

Variations for Leiomyomatosis

Expression for Leiomyomatosis

Search GEO for disease gene expression data for Leiomyomatosis.

Pathways for Leiomyomatosis

Pathways related to Leiomyomatosis according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
2
Show member pathways
12.83 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
3
Show member pathways
12.8 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 MED12
4
Show member pathways
12.78 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 PGR
5
Show member pathways
12.73 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.65 COL4A3 COL4A4 COL4A5 COL4A6
7
Show member pathways
12.59 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
12.51 COL4A3 COL4A4 COL4A5 COL4A6
9 12.46 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 FH
10
Show member pathways
12.4 COL4A3 COL4A4 COL4A5 COL4A6
11
Show member pathways
11.98 COL4A3 COL4A4 COL4A5 COL4A6
12
Show member pathways
11.97 COL4A3 COL4A4 COL4A5 COL4A6
13 11.71 COL4A3 COL4A4 COL4A5 COL4A6
14 11.65 COL4A3 COL4A4 COL4A5 COL4A6
15 11.59 COL4A3 COL4A4 COL4A5 COL4A6
16 11.57 COL4A3 COL4A4 COL4A5
17 11.24 COL4A3 COL4A4 COL4A5
18 11.24 COL4A3 COL4A4 COL4A5 COL4A6
19 10.95 COL4A3 COL4A4 COL4A5 COL4A6
20 10.81 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
21 10.53 COL4A3 COL4A4 COL4A5 COL4A6

GO Terms for Leiomyomatosis

Cellular components related to Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.62 COL4A3 COL4A4 COL4A5 COL4A6
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A3 COL4A4 COL4A5 COL4A6
3 collagen-containing extracellular matrix GO:0062023 9.54 COL4A3 COL4A5 COL4A6
4 basement membrane GO:0005604 9.46 COL4A3 COL4A4 COL4A5 COL4A6
5 collagen trimer GO:0005581 9.26 COL4A3 COL4A4 COL4A5 COL4A6
6 collagen type IV trimer GO:0005587 8.92 COL4A3 COL4A4 COL4A5 COL4A6

Biological processes related to Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.5 ESR1 MED12 PGR
2 steroid hormone mediated signaling pathway GO:0043401 9.4 ESR1 PGR
3 tricarboxylic acid cycle GO:0006099 9.37 FH SDHB
4 extracellular matrix organization GO:0030198 9.26 COL4A3 COL4A4 COL4A5 COL4A6
5 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
6 intracellular steroid hormone receptor signaling pathway GO:0030518 8.96 ESR1
7 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.8 COL4A3 COL4A5 COL4A6

Molecular functions related to Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 steroid hormone receptor activity GO:0003707 9.32 ESR1 PGR
2 nuclear receptor activity GO:0004879 9.26 ESR1 PGR
3 steroid binding GO:0005496 9.16 ESR1 PGR
4 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A3 COL4A5 COL4A6
5 extracellular matrix structural constituent GO:0005201 8.92 COL4A3 COL4A4 COL4A5 COL4A6

Sources for Leiomyomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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