MCID: LMY003
MIFTS: 47

Leiomyomatosis

Categories: Cancer diseases

Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 12 55 44 15 73
Leiomyomatosis, No Icd-O Subtype 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 44 D018231
NCIt 50 C3748
SNOMED-CT 68 75210008
UMLS 73 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 Everolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, heart and smooth muscle, and related phenotypes are homeostasis/metabolism and hematopoietic system

Wikipedia : 76 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 157)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 34.3 FH SDHB
2 diffuse peritoneal leiomyomatosis 33.7 ESR1 MED12 PGR
3 x-linked diffuse leiomyomatosis-alport syndrome 33.3 COL4A5 COL4A6
4 alport syndrome, x-linked 32.0 COL4A3 COL4A4 COL4A5 COL4A6
5 endometriosis 30.6 ESR1 GNRH1 PGR
6 leiomyoma, uterine 30.5 ESR1 FH PGR
7 leiomyosarcoma 30.2 FH MED12 PGR
8 vulvar leiomyoma 30.0 ESR1 PGR
9 leiomyoma 30.0 COL4A5 COL4A6 ESR1 FH GNRH1 MED12
10 endometriosis of ovary 29.9 ESR1 PGR
11 myoma 29.8 ESR1 GNRH1 MED12 PGR
12 adenomyosis 29.8 ESR1 GNRH1 PGR
13 intravenous leiomyomatosis 12.6
14 disseminated peritoneal leiomyomatosis 12.5
15 leiomyomatosis, diffuse, with alport syndrome 12.3
16 uterus intravascular leiomyomatosis 12.3
17 uterine corpus diffuse leiomyomatosis 12.3
18 uterine corpus leiomyomatosis 12.0
19 leiomyomatosis of esophagus, cataract and hematuria 12.0
20 leiomyoma of vulva and esophagus 11.6
21 renal cell carcinoma, papillary, 1 11.4
22 renal cell carcinoma, nonpapillary 10.6
23 kidney cancer 10.3
24 benign metastasizing leiomyoma 10.2
25 vestibular gland benign neoplasm 10.2 ESR1 PGR
26 bartholin's gland adenoma 10.2 ESR1 PGR
27 vulvar syringoma 10.2 ESR1 PGR
28 glassy cell carcinoma of the cervix 10.2 ESR1 PGR
29 lung leiomyoma 10.2 ESR1 PGR
30 vulvar benign neoplasm 10.2 ESR1 PGR
31 trigonitis 10.2 ESR1 PGR
32 predominantly cortical thymoma 10.2 ESR1 PGR
33 breast medullary carcinoma 10.2 ESR1 PGR
34 breast scirrhous carcinoma 10.2 ESR1 PGR
35 bartholin's gland benign neoplasm 10.2 ESR1 PGR
36 oncocytic breast carcinoma 10.2 ESR1 PGR
37 progesterone-receptor positive breast cancer 10.2 ESR1 PGR
38 progesterone resistance 10.2 ESR1 PGR
39 endometrial squamous cell carcinoma 10.2 ESR1 PGR
40 cribriform carcinoma 10.2 ESR1 PGR
41 endometrial mucinous adenocarcinoma 10.2 ESR1 PGR
42 adenoid basal cell carcinoma 10.2 ESR1 PGR
43 breast adenoid cystic carcinoma 10.2 ESR1 PGR
44 apocrine adenocarcinoma 10.2 ESR1 PGR
45 gender identity disorder 10.2 ESR1 PGR
46 deep angioma 10.2 ESR1 PGR
47 synchronous bilateral breast carcinoma 10.2 ESR1 PGR
48 female reproductive endometrioid cancer 10.2 ESR1 PGR
49 cervical carcinosarcoma 10.2 ESR1 PGR
50 estrogen excess 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 CARMIL2 COL4A3 COL4A4 COL4A5 ESR1 FH
2 hematopoietic system MP:0005397 9.91 CARMIL2 COL4A3 COL4A5 ESR1 GNRH1 PGR
3 immune system MP:0005387 9.8 CARMIL2 COL4A3 COL4A4 COL4A5 ESR1 GNRH1
4 mortality/aging MP:0010768 9.76 COL4A3 COL4A4 COL4A5 ESR1 FH MED12
5 normal MP:0002873 9.43 COL4A6 ESR1 GNRH1 MED12 PGR SDHB
6 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 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Everolimus Approved Phase 4 159351-69-6 6442177
3
Sirolimus Approved, Investigational Phase 4 53123-88-9 46835353 6436030 5284616
4
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
5 Immunologic Factors Phase 4
6 Immunosuppressive Agents Phase 4
7 Anti-Infective Agents Phase 4
8 Antibiotics, Antitubercular Phase 4
9 Antifungal Agents Phase 4
10 Anti-Bacterial Agents Phase 4
11
Acetylcholine Approved 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 Botulinum Toxins, Type A Phase 2
16 Neurotransmitter Agents Phase 2
17 Cholinergic Agents Phase 2
18 abobotulinumtoxinA Phase 2
19 Neuromuscular Agents Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Acetylcholine Release Inhibitors Phase 2
22 onabotulinumtoxinA Phase 2
23 Botulinum Toxins Phase 2
24 Protein Kinase Inhibitors Phase 2
25
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
26 Angiogenesis Modulating Agents Phase 2
27 Angiogenesis Inhibitors Phase 2
28 Hypoglycemic Agents Phase 1, Phase 2
29 Antimetabolites, Antineoplastic Phase 2
30 Antimetabolites Phase 2
31
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:

41
Uterus, Heart, Smooth Muscle, Kidney, Lymph Node, Lung, Colon

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 812)
# Title Authors Year
1
Intravascular leiomyomatosis with extension into the pulmonary artery. ( 29962045 )
2018
2
Disseminated Peritoneal Leiomyomatosis. ( 29959641 )
2018
3
Diagnosis and surgical management of inferior vena cava leiomyomatosis. ( 29784593 )
2018
4
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
5
Disseminated peritoneal leiomyomatosis (DPL): a case report. ( 29620425 )
2018
6
One-stage surgery for removal of intravascular leiomyomatosis extending to right ventricle. ( 29538195 )
2018
7
Leiomyomatosis peritonealis disseminata: A case report of recurrent presentation and literature review. ( 29933173 )
2018
8
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
9
Correction to: Reassessing the clinical spectrum associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma syndrome in French FH mutation carriers. ( 29655270 )
2018
10
Nivolumab-Induced Encephalitis in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 29593922 )
2018
11
Multiple Cutaneous and Uterine Leiomyomatosis with Renal Involvement: Report of a Rare Association. ( 29527031 )
2018
12
Perivascular Leiomyomatosis: A Unique Case Report. ( 29692211 )
2018
13
Leiomyomatosis peritonealisis disseminata: Two unusual cases with literature review. ( 29196156 )
2018
14
Imaging Features of Uterine Leiomyomatosis with the Inferior Vena Cava and the Right Atrium Involvement. ( 29578134 )
2018
15
Disseminated peritoneal leiomyomatosis 10 years after a laparoscopic myomectomy: A brief communication. ( 29547807 )
2018
16
Intravenous leiomyomatosis of the uterus: A clinicopathologic analysis of 13 cases with an emphasis on histogenesis. ( 29699902 )
2018
17
Surgical treatment for intravenous-cardiac leiomyomatosis. ( 29514177 )
2018
18
Intravenous leiomyomatosis with intracardiac extension. ( 29048548 )
2018
19
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2018
20
Contrast-enhanced CT findings of intravenous leiomyomatosis. ( 29395222 )
2018
21
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 29423582 )
2018
22
FH inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction. ( 29917289 )
2018
23
A Case Report of Sudden Death From Intracardiac Leiomyomatosis. ( 29351101 )
2018
24
Disseminated Peritoneal Leiomyomatosis After Uterine Artery Embolization. ( 30088058 )
2018
25
Epithelial-Mesenchymal Transition with Malignant Transformation Leading Multiple Metastasis from Disseminated Peritoneal Leiomyomatosis. ( 30096934 )
2018
26
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings. ( 30058172 )
2018
27
Aberrant uterine leiomyomas with extrauterine manifestation: intravenous leiomyomatosis and benign metastasizing leiomyomas. ( 30018906 )
2018
28
A Case of Intravenous Leiomyomatosis with Involvement of a Renal Vein. ( 30092420 )
2018
29
Two Case Reports of Intravenous Leiomyomatosis with Hyaluronan Expression. ( 30112233 )
2018
30
Intravenous leiomyomatosis with extension to the pulmonary artery associated with syncope. ( 30306636 )
2018
31
A Challenging Case of Intracardiac Leiomyomatosis Accompanied by Pseudo-Meigs Syndrome Originating from Uterine Leiomyoma. ( 30217716 )
2018
32
Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature. ( 29416287 )
2018
33
Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis. ( 29984275 )
2018
34
Intracardiac leiomyomatosis. ( 30052855 )
2018
35
Intracardiac leiomyomatosis: a rare cause of syncope. ( 30169633 )
2018
36
Expanding morphological and clinical aspects of hereditary leiomyomatosis and renal cell carcinoma (HLRCC): a case report in a patient with unusual morphology and clinical presentation. ( 30171332 )
2018
37
Long-term outcomes of surgical treatment for intravascular leiomyomatosis. ( 30217410 )
2018
38
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome (HLRCC): A Contemporary Review and Practical Discussion of the Differential Diagnosis for HLRCC-Associated Renal Cell Carcinoma. ( 30281371 )
2018
39
Pathologic Oxidation of PTPN12 Underlies ABL1 Phosphorylation in Hereditary Leiomyomatosis and Renal Cell Carcinoma. ( 30297534 )
2018
40
Successful pregnancies in women with diffuse uterine leiomyomatosis after hysteroscopic management using the Hysteroscopy Endo Operative system. ( 30308306 )
2018
41
Benign Metastasising Leiomyomatosis of the Lung Presenting as Progressive Pneumothorax. ( 30389364 )
2018
42
A Novel Diagnostic Strategy Using 16I+-[18F]-Fluoro-17-I^-Estradiol (18F-FES) PET/MRI to Achieve Complete Resection of Intravenous Leiomyomatosis in Reproductive-Age Women. ( 28481790 )
2017
43
Laparoscopic Dissection of Extensive Secondary Disseminated Peritoneal Leiomyomatosis. ( 29032253 )
2017
44
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
45
Multinodular esophageal leiomyomatosis: An uncommon cause of mediastinal mass. ( 29033067 )
2017
46
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
47
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
48
"Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis (Linhares etA al., 2014)" turns out to be EBV+ leiomyomatosis caused by CARMIL2 mutations. ( 28223207 )
2017
49
Intravenous leiomyomatosis of the subclavian vein. ( 28214494 )
2017
50
Disseminated Peritoneal Leiomyomatosis. ( 29112636 )
2017

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
12.82 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 12.45 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
11.93 COL4A3 COL4A4 COL4A5 COL4A6
13 11.7 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 tricarboxylic acid cycle GO:0006099 9.37 FH SDHB
3 intracellular steroid hormone receptor signaling pathway GO:0030518 9.26 ESR1 MED12
4 extracellular matrix organization GO:0030198 9.26 COL4A3 COL4A4 COL4A5 COL4A6
5 glomerular basement membrane development GO:0032836 9.16 COL4A3 COL4A4
6 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 nuclear receptor activity GO:0004879 9.26 ESR1 PGR
2 steroid binding GO:0005496 9.16 ESR1 PGR
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A3 COL4A5 COL4A6
4 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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