MCID: INT020
MIFTS: 32

Intravenous Leiomyomatosis

Categories: Blood diseases, Cancer diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Intravenous Leiomyomatosis

MalaCards integrated aliases for Intravenous Leiomyomatosis:

Name: Intravenous Leiomyomatosis 12 53 15 73
Leiomyomatosis 73

Classifications:



External Ids:

Disease Ontology 12 DOID:5729
NCIt 50 C4518 C5356

Summaries for Intravenous Leiomyomatosis

NIH Rare Diseases : 53 Intravenous leiomyomatosis (IVL) is a benign smooth muscle tumor of the uterus that grows within the veins but does not invade the surrounding tissue. IVL usually starts in the veins of the uterus and can extend into the inferior vena cava and ultimately into the right side of the heart, resulting in death The abnormal smooth muscle cells that cause IVL express estrogen and progesterone receptors and tumor growth thus appears to respond to these hormones. Although this is a benign condition, many affected individuals require surgery to remove the excess tissue in the uterus and heart. The exact cause of IVL remains unknown. IVL is rare, with only about 200 cases reported in the medical literature.

MalaCards based summary : Intravenous Leiomyomatosis, also known as leiomyomatosis, is related to leiomyoma and endometrial stromal sarcoma. An important gene associated with Intravenous Leiomyomatosis is ESR1 (Estrogen Receptor 1), and among its related pathways/superpathways are Pathways in cancer and Thyroid hormone signaling pathway. The drugs Ethanol and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, heart and smooth muscle.

Disease Ontology : 12 A leiomyomatosis that is located within the blood vessels.

Wikipedia : 76 Intravenous leiomyomatosis is a rare condition seen exclusively in women in which leiomyomata, benign... more...

Related Diseases for Intravenous Leiomyomatosis

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 leiomyoma 30.2 DES ESR1 MME
2 endometrial stromal sarcoma 29.8 DES ESR1 MME
3 adenomyosis 29.6 ESR1 MME
4 leiomyomatosis 11.0
5 leiomyoma, uterine 10.1
6 benign metastasizing leiomyoma 10.1
7 syringoma 10.1 DES ESR1
8 budd-chiari syndrome 10.0
9 sarcoma 10.0
10 syncope 10.0
11 breast myofibroblastoma 10.0 ESR1 MME
12 smooth muscle tumor 10.0 DES ESR1
13 cervical carcinosarcoma 10.0 ESR1 MME
14 angiomyolipoma 10.0 DES ESR1
15 cystic nephroma 10.0 DES MME
16 breast benign neoplasm 10.0 ESR1 MME
17 carcinosarcoma 10.0 DES MME
18 perivascular epithelioid cell tumor 10.0 DES MME
19 thoracic benign neoplasm 10.0 ESR1 MME
20 breast fibroadenoma 9.9 ESR1 MME
21 arteriovenous fistula 9.9
22 thrombosis 9.9
23 myoma 9.9
24 endometriosis 9.9
25 pulmonary embolism 9.9
26 lymphangioleiomyomatosis 9.9 DES ESR1
27 adenosarcoma 9.9 DES ESR1 MME
28 uterine sarcoma 9.8 DES ESR1 MME

Graphical network of the top 20 diseases related to Intravenous Leiomyomatosis:



Diseases related to Intravenous Leiomyomatosis

Symptoms & Phenotypes for Intravenous Leiomyomatosis

Drugs & Therapeutics for Intravenous Leiomyomatosis

Drugs for Intravenous 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 Intravenous Leiomyomatosis

Genetic Tests for Intravenous Leiomyomatosis

Anatomical Context for Intravenous Leiomyomatosis

MalaCards organs/tissues related to Intravenous Leiomyomatosis:

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

Publications for Intravenous Leiomyomatosis

Articles related to Intravenous Leiomyomatosis:

(show top 50) (show all 335)
# Title Authors Year
1
Intravenous leiomyomatosis of the uterus: A clinicopathologic analysis of 13 cases with an emphasis on histogenesis. ( 29699902 )
2018
2
Intravenous leiomyomatosis with intracardiac extension. ( 29048548 )
2018
3
Contrast-enhanced CT findings of intravenous leiomyomatosis. ( 29395222 )
2018
4
Disseminated Peritoneal Leiomyomatosis After Uterine Artery Embolization. ( 30088058 )
2018
5
Epithelial-Mesenchymal Transition with Malignant Transformation Leading Multiple Metastasis from Disseminated Peritoneal Leiomyomatosis. ( 30096934 )
2018
6
Hereditary leiomyomatosis and renal cell cancer without cutaneous manifestations in two Japanese siblings. ( 30058172 )
2018
7
Aberrant uterine leiomyomas with extrauterine manifestation: intravenous leiomyomatosis and benign metastasizing leiomyomas. ( 30018906 )
2018
8
A Case of Intravenous Leiomyomatosis with Involvement of a Renal Vein. ( 30092420 )
2018
9
Two Case Reports of Intravenous Leiomyomatosis with Hyaluronan Expression. ( 30112233 )
2018
10
Intravenous leiomyomatosis with extension to the pulmonary artery associated with syncope. ( 30306636 )
2018
11
A Challenging Case of Intracardiac Leiomyomatosis Accompanied by Pseudo-Meigs Syndrome Originating from Uterine Leiomyoma. ( 30217716 )
2018
12
Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature. ( 29416287 )
2018
13
Unusual presentation of hereditary leiomyomatosis mimicking neurofibromatosis. ( 29984275 )
2018
14
Intracardiac leiomyomatosis. ( 30052855 )
2018
15
Intracardiac leiomyomatosis: a rare cause of syncope. ( 30169633 )
2018
16
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
17
Long-term outcomes of surgical treatment for intravascular leiomyomatosis. ( 30217410 )
2018
18
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
19
Pathologic Oxidation of PTPN12 Underlies ABL1 Phosphorylation in Hereditary Leiomyomatosis and Renal Cell Carcinoma. ( 30297534 )
2018
20
Successful pregnancies in women with diffuse uterine leiomyomatosis after hysteroscopic management using the Hysteroscopy Endo Operative system. ( 30308306 )
2018
21
Benign Metastasising Leiomyomatosis of the Lung Presenting as Progressive Pneumothorax. ( 30389364 )
2018
22
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
23
Intravenous leiomyomatosis of the subclavian vein. ( 28214494 )
2017
24
Intravenous leiomyomatosis of the uterus: A clinicopathological analysis of nine cases and literature review. ( 28600049 )
2017
25
Post-hysterectomy intravenous leiomyomatosis: A case of successful multidisciplinary surgery under non-extracorporeal circulation. ( 28123726 )
2017
26
Anestheic Management of a Patient with Intravenous Leiomyomatosis Extending into the Right Atrium. ( 29693945 )
2017
27
Intracardiac Extension of Intravenous Leiomyomatosis. ( 28109375 )
2017
28
Radio-surgical and pathologic correlations of pelvic intravenous leiomyomatosis. ( 28643137 )
2017
29
Intravenous Leiomyomatosis Extending from the Pelvic Veins to the Heart. ( 28479243 )
2017
30
Clinical characteristics and prognostic features of intravenous leiomyomatosis with inferior vena cava orA intracardiac extension. ( 28623982 )
2017
31
Disseminated peritoneal leiomyomatosis incidentally discovered during laparoscopic surgery. ( 30254869 )
2017
32
Utility of prospective pathologic evaluation to inform clinical genetic testing for hereditary leiomyomatosis and renal cell carcinoma. ( 28171700 )
2017
33
Loss of peristalsis of the esophagus due to diffuse esophageal leiomyomatosis. ( 28192805 )
2017
34
Diffuse esophageal leiomyomatosis diagnosed by endoscopic ultrasonography and endoscopic mucosal cutting biopsy. ( 28235133 )
2017
35
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Combined With Adrenocortical Carcinoma on 18F-FDG PET/CT. ( 28737576 )
2017
36
Review of hereditary leiomyomatosis renal cell carcinoma with focus on clinical and pathobiological aspects of renal tumors. ( 29517197 )
2017
37
Management of Intravenous Leiomyomatosis of Uterus with Extension to Heart. ( 26838087 )
2016
38
The value of (18)F-FDG PET/CT in the diagnosis of uterine intravenous leiomyomatosis extended into the right atrium. ( 27331217 )
2016
39
Surgical Treatment of Intracardiac-Extending Intravenous Leiomyomatosis: A Single Center Experience. ( 27355139 )
2016
40
Successful One Stage Surgical Removal of Intravenous Leiomyomatosis with On Pump Beating Heart Technique. ( 26847505 )
2016
41
Vanishing intravenous leiomyomatosis after hysterectomy: Assessment of the need to perform complete resection. ( 27080990 )
2016
42
Intravenous leiomyomatosis with intracardiac extension depicted on computed tomography and magnetic resonance imaging scans: A report of two cases and a review of the literature. ( 27313775 )
2016
43
Uterine Intravenous Leiomyomatosis with Intracardiac Extension and Pulmonary Benign Metastases on FDG PET/CT: A Case Report. ( 26957916 )
2016
44
Pelvic Intravenous Leiomyomatosis - Case Report. ( 27529764 )
2016
45
Surgical Treatment Strategies of Intravenous Leiomyomatosis withRight Cardiac Cavities Extension. ( 27594158 )
2016
46
Intravenous leiomyomatosis with inferior vena cava or intracardiac extension and concurrent bilateral multiple pulmonary nodules: A report of 2 cases. ( 27583911 )
2016
47
Factors Associated With Recurrence After Surgical Resection in Women With Intravenous Leiomyomatosis. ( 27741175 )
2016
48
Intravenous Leiomyomatosis in the Parametrium. ( 26802907 )
2016
49
Intravenous leiomyomatosis with right atrium extension in two patients: A case report. ( 27900095 )
2016
50
Intravenous leiomyomatosis: an unusual growth pattern in uterine myomas. ( 26850648 )
2016

Variations for Intravenous Leiomyomatosis

Expression for Intravenous Leiomyomatosis

Search GEO for disease gene expression data for Intravenous Leiomyomatosis.

Pathways for Intravenous Leiomyomatosis

Pathways related to Intravenous Leiomyomatosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.52 ESR1 PIK3R3 PTCH2
2 11.22 ESR1 PIK3R3
3 10.94 ESR1 PIK3R3

GO Terms for Intravenous Leiomyomatosis

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 8.62 ESR1 PIK3R3

Sources for Intravenous 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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