MCID: INT020
MIFTS: 36

Intravenous Leiomyomatosis

Categories: Cardiovascular diseases, Rare diseases

Aliases & Classifications for Intravenous Leiomyomatosis

MalaCards integrated aliases for Intravenous Leiomyomatosis:

Name: Intravenous Leiomyomatosis 12 20 15 70
Leiomyomatosis 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5729
NCIt 50 C4518
SNOMED-CT 67 254883003
UMLS 70 C0206654 C0346200

Summaries for Intravenous Leiomyomatosis

GARD : 20 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 leiomyomatosis and leiomyoma, uterine. An important gene associated with Intravenous Leiomyomatosis is MED12 (Mediator Complex Subunit 12). The drugs Ethanol and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include uterus, smooth muscle and heart.

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

Wikipedia : 73 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 top 50) (show all 257)
# Related Disease Score Top Affiliating Genes
1 leiomyomatosis 31.8 PGR MED12 ESR1
2 leiomyoma, uterine 31.1 PGR HMGA2 ESR1
3 benign metastasizing leiomyoma 30.8 PGR DES
4 adenomyosis 30.1 PGR MME ESR1
5 myofibroma 29.9 DES CD34 CALD1
6 leiomyosarcoma 29.9 PGR MED12 HMGA2 ESR1 DES
7 diffuse peritoneal leiomyomatosis 29.9 PGR MED12 CALD1
8 leiomyoma 29.8 PGR MME MED12 HMGA2 ESR1 DES
9 spindle cell sarcoma 29.4 DES CD34 CALD1
10 uterine corpus sarcoma 29.3 PGR CD34 CALD1
11 mesenchymal cell neoplasm 29.2 MME HMGA2 CD34 CALD1
12 endometrial stromal sarcoma 29.1 PGR MME ESR1 DES CALD1
13 myoma 29.0 PGR MME MED12 HMGA2 ESR1 CD34
14 smooth muscle tumor 28.7 PGR MME MED12 HMGA2 ESR1 DES
15 syncope 10.5
16 rare tumor 10.5
17 pulmonary embolism 10.3
18 syringoma 10.3 ESR1 DES
19 ectomesenchymoma 10.2 HMGA2 DES
20 glassy cell carcinoma of the cervix 10.2 PGR ESR1
21 breast intraductal papillomatosis 10.2 PGR ESR1
22 intraductal papilloma 10.2 PGR ESR1
23 nipple carcinoma 10.2 PGR ESR1
24 pregnancy adenoma 10.2 PGR MED12
25 bartholin's gland adenoma 10.2 PGR ESR1
26 budd-chiari syndrome 10.2
27 cardiac arrest 10.2
28 bartholin's gland adenoid cystic carcinoma 10.2 PGR ESR1
29 bartholin's gland benign neoplasm 10.2 PGR ESR1
30 chronic tympanitis 10.2 PGR ESR1
31 vestibular gland benign neoplasm 10.2 PGR ESR1
32 granulomatous endometritis 10.2 PGR ESR1
33 endometritis 10.2 PGR ESR1
34 vulvar syringoma 10.2 PGR ESR1
35 adult type testicular granulosa cell tumor 10.2 PGR ESR1
36 breast scirrhous carcinoma 10.2 PGR ESR1
37 oncocytic breast carcinoma 10.2 PGR ESR1
38 cervical clear cell adenocarcinoma 10.2 PGR ESR1
39 ovarian seromucinous carcinoma 10.2 PGR ESR1
40 breast papillary carcinoma 10.2 PGR ESR1
41 lymphangiomatosis 10.2 PGR DES
42 comedo carcinoma 10.2 PGR ESR1
43 breast adenoid cystic carcinoma 10.2 PGR ESR1
44 intracranial meningioma 10.2 PGR ESR1
45 congenital epulis 10.2 PGR DES
46 epulis 10.2 PGR DES
47 breast adenoma 10.2 PGR ESR1
48 lipid-rich carcinoma 10.2 PGR ESR1
49 infiltrating lipoma 10.1 HMGA2 CD34
50 progesterone-receptor negative breast cancer 10.1 PGR ESR1

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 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616
5 Antibiotics, Antitubercular Phase 4
6 Immunosuppressive Agents Phase 4
7 Immunologic Factors Phase 4
8 Anti-Bacterial Agents Phase 4
9 Anti-Infective Agents Phase 4
10 Antifungal Agents Phase 4
11
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
12
Bevacizumab Approved, Investigational Phase 2 216974-75-3
13
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
14
Metformin Approved Phase 1, Phase 2 657-24-9 4091 14219
15 abobotulinumtoxinA Phase 2
16 Neurotransmitter Agents Phase 2
17 Cholinergic Agents Phase 2
18 Botulinum Toxins Phase 2
19 Botulinum Toxins, Type A Phase 2
20 Angiogenesis Inhibitors Phase 2
21 Antineoplastic Agents, Immunological Phase 2
22
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
23 Protein Kinase Inhibitors Phase 2
24 Alkylating Agents Phase 2
25 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
26 Hypoglycemic Agents Phase 1, Phase 2
27
Progesterone Approved, Vet_approved 57-83-0 5994
28 Pharmaceutical Solutions
29 glutamine

Interventional clinical trials:

(show all 13)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, Single-Center 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 Active, not recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
5 A Phase 2 Study of Pamiparib (BGB-290) Plus Temozolomide for Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Not yet recruiting NCT04603365 Phase 2 Pamiparib;Temozolomide
6 Phase I/II Trial of Vandetanib in Combination With Metformin in Subjects With HLRCC or SDH-Associated Kidney Cancer or Sporadic Papillary Renal Cell Carcinoma Terminated NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
7 Feasibility Evaluation of the Embolic Agent BeadBlock™ in the Treatment of Uterine Fibroids With Uterine Artery Embolization With Comparison of Study Endpoints to Embosphere® Completed NCT00361036 Phase 1
8 French National Registry of Rare Peritoneal Surface Malignancies (RENAPE Registry) Unknown status NCT02834169
9 Surgical Management of Intravenous Leiomyomatosis With Intracardiac Extension: Our Experience and Outcomes Completed NCT01707862
10 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00001869
11 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752
12 MyVHL: Patient Natural History Study Recruiting NCT03749980
13 An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy Recruiting NCT04623502

Search NIH Clinical Center for Intravenous Leiomyomatosis

Genetic Tests for Intravenous Leiomyomatosis

Anatomical Context for Intravenous Leiomyomatosis

MalaCards organs/tissues related to Intravenous Leiomyomatosis:

40
Uterus, Smooth Muscle, Heart, Lymph Node, Colon, Small Intestine, Ovary

Publications for Intravenous Leiomyomatosis

Articles related to Intravenous Leiomyomatosis:

(show top 50) (show all 1556)
# Title Authors PMID Year
1
Long-term outcomes after cytoreductive surgery and HIPEC for morcellated uterine leiomyosarcoma; A case series. 61
33748383 2021
2
Percutaneous Extraction of Intravascular Leiomyomatosis. 61
33454182 2021
3
Uterine plexiform tumourlets: multifocal and solitary cases with subsets expressing melanocytic markers. 61
33103268 2021
4
Leiomyomatosis peritonealis disseminata mimicking peritoneal carcinomatosis 13 years after laparoscopic uterine myomectomy: A case report. 61
33743252 2021
5
Leiomyomatosis masquerading as sigmoid achalasia: a rare occurrence. 61
33738358 2021
6
Intravenous leiomyomatosis misdiagnosed with large thrombosis in inferior vena cava. 61
33678345 2021
7
A Giant Leiomyoma with Massive Cystic Hydropic Degeneration Mimicking an Aggressive Neoplasm: A Challenging Case with a Literature Review. 61
33785706 2021
8
Hereditary leiomyomatosis and renal cell carcinoma syndrome associated uterine smooth muscle tumors: Bridging morphology and clinical screening. 61
33099845 2021
9
Comprehensive Molecular Characterization and Response to Therapy in Fumarate Hydratase-Deficient Renal Cell Carcinoma. 61
33658299 2021
10
Imaging evaluation of hereditary renal tumors: a pictorial review. 61
33759057 2021
11
New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia. 61
33664427 2021
12
Experience in the diagnosis and treatment of intravenous leiomyomatosis involving the inferior vena cava and/or right cardiac chambers. 61
32464287 2021
13
Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients. 61
33063682 2021
14
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study. 61
32265359 2021
15
One-stage surgical removal of post-hysterectomy intravenous leiomyomatosis with inferior vena cava and heart extension using normothermic cardiopulmonary bypass. 61
33427521 2021
16
Surgical Strategy for Intravenous Cardiac Leiomyomatosis. 61
32830033 2021
17
Diffuse Micro-Nodules on Peritoneal Surfaces at Donor Organ Procurement: Highlights on the Diagnostic Challenge and Transplant Management. 61
33579891 2021
18
Clinical characteristics and treatments of hereditary leiomyomatosis renal cell carcinoma: two case reports and literature review. 61
32932527 2021
19
Hereditary leiomyomatosis with risk of renal cell carcinoma: a patient's viewpoint. 61
33606272 2021
20
A Non-Hereditary Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. 61
33747650 2021
21
Vitamin D deficiency in the pathogenesis of leiomyoma and intravascular leiomyomatosis: A case report and review of the literature. 61
33364287 2021
22
Echocardiographic photorealistic imaging of leiomyomatosis intravascularis. 61
32743743 2021
23
Renal angiomyoadenomatous tumor (RAT): a rare distinct entity with diagnostic challenges-a case report. 61
33415591 2021
24
Alport Syndrome: a comprehensive review on genetics, pathophysiology, histology, clinical, and therapeutic perspectives. 61
33423643 2021
25
Intravenous leiomyomatosis as an unusual cause of the misdiagnosis of deep vein thrombosis. 61
33095539 2021
26
Mitochondrial DNA alterations underlie an irreversible shift to aerobic glycolysis in fumarate hydratase-deficient renal cancer. 61
33402335 2021
27
Hereditary leiomyomatosis and renal cell carcinoma: a case series and literature review. 61
33461594 2021
28
Complete response of hereditary leiomyomatosis and renal cell cancer (HLRCC)-associated renal cell carcinoma to nivolumab and ipilimumab combination immunotherapy by: a case report. 61
32666341 2021
29
Clinicopathologic features and clinical outcomes of intravenous leiomyomatosis of the uterus: A case series. 61
33429819 2021
30
Diffuse peritoneal leiomyomatosis: An exceptional entity in a male patient. 61
33380682 2020
31
Obstruction of the Hepatic Venous Flow Caused by Intravenous Leiomyomatosis. 61
33327445 2020
32
Peritoneal lymphomatosis. A case report. 61
33485812 2020
33
Fumarate hydratase-deficient renal cell carcinoma: A clinicopathological study of seven cases including hereditary and sporadic forms. 61
32977234 2020
34
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings. 61
32562921 2020
35
Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC): Report of a Family Pedigree. 61
32703534 2020
36
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas. 61
32376712 2020
37
Hereditary Leiomyomatosis and Renal Cell Cancer: Clinical, Molecular, and Screening Features in a Cohort of 185 Affected Individuals. 61
31831373 2020
38
A case of colorectal large cell neuroendocrine carcinoma accompanied by disseminated peritoneal leiomyomatosis. 61
33296060 2020
39
Surgical treatment of intravenous leiomyomatosis with inferior vena cava and intracardiac extension. 61
33069329 2020
40
Intravenous Leiomyomatosis: A Rare Diagnosis With Aggressive Potential. 61
33147110 2020
41
Multidisciplinary Approach to Diagnose and Treat Diffuse Esophageal Leiomyomatosis: A Case Report. 61
33232595 2020
42
Endometrial stromal sarcoma extending to the pulmonary artery: A rare case report. 61
33344553 2020
43
Treatment strategy for papillary renal cell carcinoma type 2: a case series of seven patients treated based on next generation sequencing data. 61
33313134 2020
44
Tubulocystic renal cell carcinoma with poorly differentiated foci and loss of fumarate hydratase: A case report. 61
33101988 2020
45
Novel morphological and genetic features of fumarate hydratase deficient renal cell carcinoma in HLRCC syndrome patients with a tailored therapeutic approach. 61
32537760 2020
46
Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants. 61
32612247 2020
47
Multimodality Imaging of Abdominopelvic Tumors with Venous Invasion. 61
33064623 2020
48
Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Spain: Clinical and Genetic Characterization. 61
33167498 2020
49
Leiomyomatosis peritonealis disseminata: Three case reports. 61
33031323 2020
50
Leiomyomatosis peritonealis disseminata: An exceptional case. 61
33159768 2020

Variations for Intravenous Leiomyomatosis

Expression for Intravenous Leiomyomatosis

Search GEO for disease gene expression data for Intravenous Leiomyomatosis.

Pathways for Intravenous Leiomyomatosis

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 transcription initiation from RNA polymerase II promoter GO:0006367 9.33 PGR MED12 ESR1
2 stem cell differentiation GO:0048863 9.32 HMGA2 ESR1
3 steroid hormone mediated signaling pathway GO:0043401 9.26 PGR ESR1
4 intracellular steroid hormone receptor signaling pathway GO:0030518 8.96 PGR ESR1
5 paracrine signaling GO:0038001 8.62 PGR CD34

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

# Name GO ID Score Top Affiliating Genes
1 steroid binding GO:0005496 9.16 PGR ESR1
2 steroid hormone receptor activity GO:0003707 8.96 PGR ESR1
3 transcription factor binding GO:0008134 8.92 MED12 HMGA2 ESR1 CD34

Sources for Intravenous Leiomyomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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