MCID: INT020
MIFTS: 36

Intravenous Leiomyomatosis

Categories: Blood diseases, Cardiovascular diseases, Rare diseases

Aliases & Classifications for Intravenous Leiomyomatosis

MalaCards integrated aliases for Intravenous Leiomyomatosis:

Name: Intravenous Leiomyomatosis 12 52 15 71
Leiomyomatosis 71

Classifications:



External Ids:

Disease Ontology 12 DOID:5729
NCIt 49 C4518
SNOMED-CT 67 254883003
UMLS 71 C0206654 C0346200

Summaries for Intravenous Leiomyomatosis

NIH Rare Diseases : 52 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 benign metastasizing leiomyoma. An important gene associated with Intravenous Leiomyomatosis is ESR1 (Estrogen Receptor 1). The drugs Ethanol and Clotrimazole 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 : 74 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 233)
# Related Disease Score Top Affiliating Genes
1 leiomyomatosis 31.7 PGR MED12 ESR1
2 benign metastasizing leiomyoma 31.0 PGR DES
3 leiomyoma, uterine 30.7 PGR MED12 HMGA2 ESR1
4 adenomyosis 30.3 PGR MME ESR1
5 spindle cell sarcoma 29.8 DES CD34
6 myofibroma 29.8 DES CD34 CALD1
7 leiomyosarcoma 29.7 PGR MED12 HMGA2 ESR1 DES
8 diffuse peritoneal leiomyomatosis 29.6 PGR MED12 CALD1
9 leiomyoma 29.4 PGR MME MED12 HMGA2 ESR1 DES
10 endometrial stromal sarcoma 29.1 PGR MME ESR1 DES CALD1
11 mesenchymal cell neoplasm 29.0 MME HMGA2 CD34 CALD1
12 myoma 28.4 PGR MME MED12 HMGA2 ESR1 CD34
13 smooth muscle tumor 28.1 PGR MME MED12 HMGA2 ESR1 DES
14 cardiac arrest 10.5
15 syncope 10.5
16 rare tumor 10.5
17 pulmonary embolism 10.4
18 fat necrosis of breast 10.4 HMGA2 ESR1
19 glassy cell carcinoma of the cervix 10.4 PGR ESR1
20 bartholin's gland adenoid cystic carcinoma 10.4 PGR ESR1
21 chronic tympanitis 10.3 PGR ESR1
22 bartholin's gland adenoma 10.3 PGR ESR1
23 granulomatous endometritis 10.3 PGR ESR1
24 endometritis 10.3 PGR ESR1
25 bartholin's gland benign neoplasm 10.3 PGR ESR1
26 vestibular gland benign neoplasm 10.3 PGR ESR1
27 vaginal glandular tumor 10.3 PGR ESR1
28 vulvar syringoma 10.3 PGR ESR1
29 trigonitis 10.3 PGR ESR1
30 breast scirrhous carcinoma 10.3 PGR ESR1
31 oncocytic breast carcinoma 10.3 PGR ESR1
32 cervical clear cell adenocarcinoma 10.3 PGR ESR1
33 lymphangiomatosis 10.3 PGR DES
34 adult type testicular granulosa cell tumor 10.3 PGR ESR1
35 ovarian seromucinous carcinoma 10.3 PGR ESR1
36 breast papillary carcinoma 10.3 PGR ESR1
37 comedo carcinoma 10.3 PGR ESR1
38 mammographic density 10.3 PGR ESR1
39 congenital epulis 10.3 PGR DES
40 epulis 10.3 PGR DES
41 ectomesenchymoma 10.3 HMGA2 DES
42 lipid-rich carcinoma 10.3 PGR ESR1
43 wolffian duct adenocarcinoma 10.3 MME ESR1
44 progesterone-receptor negative breast cancer 10.3 PGR ESR1
45 progesterone resistance 10.3 PGR ESR1
46 apocrine sweat gland neoplasm 10.3 PGR ESR1
47 apocrine adenocarcinoma 10.3 PGR ESR1
48 juvenile nasopharyngeal angiofibroma 10.2 PGR ESR1
49 cervical adenomyoma 10.2 PGR MME
50 cribriform carcinoma 10.2 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 25)
# 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 5284616 6436030 46835353
5 Immunologic Factors Phase 4
6 Anti-Infective Agents Phase 4
7 Immunosuppressive Agents Phase 4
8 Anti-Bacterial Agents Phase 4
9 Antifungal Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
12
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
13
Bevacizumab Approved, Investigational Phase 2 216974-75-3
14 Guadecitabine Investigational Phase 2 929901-49-5
15 Hypoglycemic Agents Phase 1, Phase 2
16 abobotulinumtoxinA Phase 2
17 Cholinergic Agents Phase 2
18 Botulinum Toxins Phase 2
19 Botulinum Toxins, Type A Phase 2
20 Neurotransmitter Agents Phase 2
21
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
22 Protein Kinase Inhibitors Phase 2
23 Angiogenesis Inhibitors Phase 2
24 Antineoplastic Agents, Immunological Phase 2
25
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:

(show all 15)
# 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 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 Completed NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
4 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
5 A Phase II Trial of the DNA Methyl Transferase Inhibitor, SGI-110 (Guadecitabine), In Children And Adults With Wild Type GIST, Pheochromocytoma And Paraganglioma Associated With Succinate Dehydrogenase Deficiency And HLRCC-Associated Kidney Cancer Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
6 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
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 MyVHL: Patient Natural History Study Recruiting NCT03749980
12 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752
13 Clinical Manifestations and Molecular Bases of Heritable Urologic Malignant Disorders Recruiting NCT00001238
14 Primary Spontaneous Pneumothorax and Different Types of Surgical Management Not yet recruiting NCT03804385
15 Establishment of a 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:

40
Uterus, Heart, Smooth Muscle, Kidney, Lung, Lymph Node, Skin

Publications for Intravenous Leiomyomatosis

Articles related to Intravenous Leiomyomatosis:

(show top 50) (show all 1491)
# Title Authors PMID Year
1
Pleomorphic Undifferentiated Uterine Sarcoma in a Young Patient Presenting With Elevated Beta-hCG and Rare Variants of Benign Leiomyoma: A Case Report and Review of the Literature. 61
31033798 2020
2
Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome: Spectrum of imaging findings. 61
32562921 2020
3
Novel Morphological and Genetic Features of Fumarate Hydratase Deficient Renal Cell Carcinoma in HLRCC Syndrome Patients with a Tailored Therapeutic Approach. 61
32537760 2020
4
Surgical Approach to Abdominal Tumors Involving the Inferior Vena Cava. 61
32558442 2020
5
Cardiac Myxoma Caused by Fumarate Hydratase Gene Deletion in Patient With Cortisol-Secreting Adrenocortical Adenoma. 61
32249909 2020
6
[Clinical analysis of intravenous-cardiac leiomyomatosis]. 61
32536097 2020
7
Surgical treatment strategies for extra-pelvic intravenous leiomyomatosis. 61
32546179 2020
8
An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance. 61
32556350 2020
9
Experience in the diagnosis and treatment of intravenous leiomyomatosis involving the inferior vena cava and/or right cardiac chambers. 61
32464287 2020
10
Hereditary leiomyomatosis and renal cell cancer (HLRCC): A case report. 61
32154112 2020
11
A clinicopathological and molecular analysis in uterine leiomyomas and concurrent/metachronous peritoneal nodules: New insights into disseminated peritoneal leiomyomatosis. 61
32234244 2020
12
Estimation of the carrier frequency of fumarate hydratase alterations and implications for kidney cancer risk in hereditary leiomyomatosis and renal cancer. 61
32413184 2020
13
Histologic findings in hysterectomies after endometrial ablation. 61
32475645 2020
14
Clinicopathological and molecular features of hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas. 61
32376712 2020
15
Intravenous leiomyomatosis is inclined to a solid entity different from uterine leiomyoma based on RNA-seq analysis with RT-qPCR validation. 61
32372565 2020
16
MED12 exon 2 mutation is uncommon in intravenous leiomyomatosis: clinicopathologic features and molecular study. 61
32240666 2020
17
Fumarate hydratase c.914T > C (p.Phe305Ser) is a pathogenic variant associated with hereditary leiomyomatosis and renal cell cancer syndrome. 61
32463173 2020
18
Complexities in estimating the true risk of hereditary leiomyomatosis and renal cell carcinoma and the development of kidney cancer. 61
32413160 2020
19
Primary leiomyoma of the inferior vena cava mimicking a cystic neoplasm of the pancreas: a case report. 61
32086002 2020
20
Clitoral leiomyoma in a premenopausal woman: a case report. 61
32357868 2020
21
Successful pregnancy after complete resection of leiomyomatosis peritonealis disseminate without recurrence:a case report with next-generation sequencing analysis and literature review. 61
32359372 2020
22
Intravascular Leiomyomatosis Extending to Right Atrium: A Rare Caused Syncope. 61
31743782 2020
23
Myomectomy for Multiple or Giant Uterine Fibroids. 61
32399487 2020
24
Surgical removal of intravascular leiomyomas with intracardiac extension: A two-case report. 61
32227364 2020
25
The Uterine Plexiform Lesions Revisited. 61
32459343 2020
26
Diffuse Leiomyomatosis: Complete Myomectomy for Innumerable Small Nodules to Achieve Fertility Sparing and Childbearing. 61
32399490 2020
27
Rapamycin (sirolimus) in treatment of recurrent intravenous leiomyomatosis: a case report. 61
32031317 2020
28
Multidisciplinary management of extensive intravenous leiomyomatosis: A coordinated effort of a single institution. 61
32258330 2020
29
A RARE CASE OF A RETROPERITONEAL LEIOMYOMATOSIS. 61
32325271 2020
30
Hereditary leiomyomatosis and renal cell carcinoma/fumarate hydratase-deficient renal cell carcinoma: two primaries in one. 61
31271241 2020
31
Advances in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) research. 61
31689495 2020
32
[A special uterine leiomyoma]. 61
32192807 2020
33
[Hereditary kidney cancers: The pathologist's view in 2020]. 61
32197858 2020
34
The preliminary outcome of the combination of immunotherapy and targeted therapy after recurrence and metastasis for hereditary leiomyomatosis and renal cell cancer-a case report. 61
32420185 2020
35
[Clinical Cancer Genetics: A guide for the pathologist]. 61
32046877 2020
36
Pheochromocytoma associated with cutaneous and uterine leiomyomatosis and renal cancer in a patient with a germline mutation in the fumarate hydratase gene. 61
31133476 2020
37
Leiomyomatosis Peritonealis Disseminata: A Clinical Analysis of 13 Cases and Literature Review. 61
31615319 2020
38
Molecular and clinicopathologic characterization of intravenous leiomyomatosis. 61
32341498 2020
39
Molecular Profiling of Benign Metastasizing Leiomyoma of the Uterus Revealing Unique Novel Therapeutic Targets. 61
32431980 2020
40
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study. 61
32265359 2020
41
Intravenous leiomyomatosis-a case report. 61
32293219 2020
42
Intravenous leiomyomatosis: the first reported case of intraoperative intracaval embolisation of tumour to the right atrium. 61
32169987 2020
43
Treatment of three hereditary leiomyomatosis patients with cryotherapy. 61
31917494 2020
44
Fumarase-deficient uterine leiomyoma: a case of a rare entity and surgical innovation. 61
32201558 2020
45
Intravenous leiomyomatosis without extrapelvic involvement. 61
32193185 2020
46
The crawling tumour: intravenous leiomyomatosis involving inferior vena cava and heart. 61
31722377 2020
47
Open resection of inferior vena caval leiomyomatosis invading an intravascular filter. 61
32067730 2020
48
Intravenous leiomyomatosis: molecular analysis of 17 cases. 61
31889549 2020
49
Hereditary leiomyomatosis and renal cell carcinoma syndrome-associated renal cell carcinoma: Morphological appraisal with a comprehensive review of differential diagnoses. 61
32108620 2020
50
Alport-leiomyomatosis syndrome requiring subtotal esophagectomy for refractory gastroesophageal reflux disease after childhood partial esophagogastrectomy: a case report. 61
31758390 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

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

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.62 MED21 MED12

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.55 PGR MED21 MED12 HMGA2 ESR1
2 stem cell differentiation GO:0048863 9.26 HMGA2 ESR1
3 transcription initiation from RNA polymerase II promoter GO:0006367 9.13 PGR MED12 ESR1
4 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 PGR MED12 HMGA2 ESR1
2 steroid binding GO:0005496 9.16 PGR ESR1
3 transcription coregulator activity GO:0003712 9.13 MED21 MED12 HMGA2
4 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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