MCID: LMY003
MIFTS: 42

Leiomyomatosis malady

Categories: Cancer diseases

Aliases & Classifications for Leiomyomatosis

Aliases & Descriptions for Leiomyomatosis:

Name: Leiomyomatosis 12 52 42 14 69
Leiomyomatosis, No Icd-O Subtype 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 42 D018231
NCIt 47 C3748
SNOMED-CT 64 189789002 75210008
UMLS 69 C0206654

Summaries for Leiomyomatosis

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

Related Diseases for Leiomyomatosis

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

(show top 50) (show all 140)
id Related Disease Score Top Affiliating Genes
1 leiomyomatosis and renal cell cancer 12.4
2 intravenous leiomyomatosis 12.3
3 disseminated peritoneal leiomyomatosis 12.2
4 diffuse peritoneal leiomyomatosis 11.9
5 leiomyomatosis, esophageal and vulval, with nephropathy 11.9
6 uterus intravascular leiomyomatosis 11.7
7 uterine corpus leiomyomatosis 11.7
8 uterine corpus diffuse leiomyomatosis 11.7
9 leiomyomatosis of esophagus, cataract and hematuria 11.7
10 x-linked diffuse leiomyomatosis-alport syndrome 11.7
11 alport syndrome 11.2
12 leiomyoma of vulva and esophagus 10.9
13 multiple cutaneous and uterine leiomyomas 10.9
14 renal cell carcinoma, papillary 10.8
15 peritonitis 10.3
16 esophagitis 10.3
17 leiomyoma 10.3
18 linear verrucous nevus syndrome 10.3 COL4A5 COL4A6
19 renal cell carcinoma 10.3
20 bartholin's gland benign neoplasm 10.2 ESR1 PGR
21 cardiovascular organ benign neoplasm 10.2 ESR1 PGR
22 appendix leiomyoma 10.2 ESR1 PGR
23 bronchus adenoma 10.2 ESR1 PGR
24 glioma 10.2 ESR1 PGR
25 ovarian benign neoplasm 10.2 ESR1 PGR
26 plexiform neurofibroma 10.2 ESR1 PGR
27 paranasal sinus disease 10.2 ESR1 PGR
28 deafness, autosomal recessive 21 10.2 ESR1 PGR
29 cervical lymphoepithelioma-like carcinoma 10.2 ESR1 PGR
30 histiocytic and dendritic cell cancer 10.2 ESR1 PGR
31 atypical lipomatous tumor 10.2 ESR1 PGR
32 pediatric intraocular retinoblastoma 10.2 ESR1 PGR
33 congenital disorder of glycosylation, type ic 10.2 ESR1 PGR
34 her2-receptor negative breast cancer 10.2 ESR1 PGR
35 intestinal perforation 10.2 ESR1 PGR
36 perlman syndrome 10.2 ESR1 PGR
37 nervous system hibernoma 10.2 ESR1 PGR
38 bladder adenocarcinoma 10.2 ESR1 PGR
39 anal neuroendocrine tumor 10.2 ESR1 PGR
40 osteogenesis imperfecta 10.2 ESR1 PGR
41 poliomyelitis 10.2 ESR1 PGR
42 vulva basal cell carcinoma 10.2 ESR1 PGR
43 villoglandular endometrial endometrioid adenocarcinoma 10.2 ESR1 PGR
44 vaginal adenosarcoma 10.2 ESR1 PGR
45 intraneural perineurioma 10.2 ESR1 PGR
46 middle ear adenocarcinoma 10.2 ESR1 PGR
47 paraphimosis 10.2 ESR1 PGR
48 central nervous system mature teratoma 10.2 ESR1 PGR
49 acute thyroiditis 10.2 ESR1 PGR
50 rectal neoplasm 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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.97 ESR1 FH GNRH1 LDHA PGR COL4A3
2 cardiovascular system MP:0005385 9.95 COL4A3 COL4A5 ESR1 LDHA MED12 PGR
3 mortality/aging MP:0010768 9.91 COL4A3 COL4A4 COL4A5 ESR1 FH LDHA
4 immune system MP:0005387 9.87 COL4A3 COL4A4 COL4A5 ESR1 GNRH1 LDHA
5 neoplasm MP:0002006 9.55 ESR1 GNRH1 LDHA PGR SDHB
6 normal MP:0002873 9.5 COL4A6 ESR1 GNRH1 LDHA MED12 PGR
7 renal/urinary system MP:0005367 9.1 COL4A4 COL4A5 ESR1 FH GNRH1 COL4A3

Drugs & Therapeutics for Leiomyomatosis

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

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Acetylcholine Approved Phase 2 51-84-3 187
3
Bevacizumab Approved, Investigational Phase 2 216974-75-3
4
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
5
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
6 abobotulinumtoxinA Phase 2
7 Botulinum Toxins Phase 2
8 Botulinum Toxins, Type A Phase 2
9 Cholinergic Agents Phase 2
10 incobotulinumtoxinA Phase 2
11 Neuromuscular Agents Phase 2
12 Neurotransmitter Agents Phase 2
13 onabotulinumtoxinA Phase 2
14 Peripheral Nervous System Agents Phase 2
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
18 Protein Kinase Inhibitors Phase 2
19 Hypoglycemic Agents Phase 1, Phase 2
20 Antimetabolites Phase 2
21 Antimetabolites, Antineoplastic Phase 2
22
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:

(show all 11)
id Name Status NCT ID Phase
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 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
3 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
4 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
5 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 Not yet recruiting NCT03165721 Phase 2
6 Comparison Study in the Treatment of Uterine Fibroids Uterine Fibroid Embolization Using BeadBlock™ Embolic Agent Completed NCT00361036 Phase 1
7 Surgery for Intravenous Leiomyomatosis Completed NCT01707862
8 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
9 Hereditary Leiomyomatosis Renal Cell Cancer - Study of the Genetic Cause and the Predisposition to Renal Cancer Recruiting NCT00050752
10 French National Registry of Rare Peritoneal Surface Malignancies Active, not recruiting NCT02834169
11 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:

39
Uterus, Heart, Smooth Muscle, Lymph Node, Kidney, Colon, Lung

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 643)
id Title Authors Year
1
A Case of Simultaneous Benign Metastasizing Leiomyomas and Disseminated Peritoneal Leiomyomatosis Following Endoscopic Power Morcellation for Uterine Disease. ( 27748666 )
2017
2
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. ( 28275241 )
2017
3
Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma. ( 28196407 )
2017
4
"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
5
Factors Associated With Recurrence After Surgical Resection in Women With Intravenous Leiomyomatosis. ( 27741175 )
2016
6
Uterine leiomyomatosis with intracardiac extension. ( 27999133 )
2016
7
Intravenous leiomyomatosis with right atrium extension in two patients: A case report. ( 27900095 )
2016
8
Complete Penetrance and Absence of Intrafamilial Variability in a Large Family with Hereditary Leiomyomatosis and Renal Cell Carcinoma. ( 27161211 )
2016
9
Successful One-Stage Operative Resection of an Intravenous Leiomyomatosis Involving the Right-Sided Heart Chambers and Pulmonary Artery. ( 27146232 )
2016
10
Intravenous leiomyomatosis treated with radical hysterectomy and adjuvant aromatase inhibitor therapy. ( 27436168 )
2016
11
Management of Intravenous Leiomyomatosis of Uterus with Extension to Heart. ( 26838087 )
2016
12
Iatrogenic parasitic leiomyoma and leiomyomatosis peritonealis disseminata following uterine morcellation. ( 27125448 )
2016
13
Intracardiac Leiomyomatosis - an Unusual Cause of Syncope in a Middle-Aged Woman. ( 27743856 )
2016
14
Leiomyomatosis peritonealis disseminata: case report and review of the literature. ( 27426654 )
2016
15
Paradoxical Tumor Embolism and Recurrent Intracardiac Mass From Uterine Intravenous Leiomyomatosis. ( 27554224 )
2016
16
The value of (18)F-FDG PET/CT in the diagnosis of uterine intravenous leiomyomatosis extended into the right atrium. ( 27331217 )
2016
17
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. ( 26902252 )
2016
18
A Unique Case of Diffuse Intestinal and Colonic Leiomyomatosis. ( 27215367 )
2016
19
Leiomyomatosis peritonealis disseminata: A case report and review of the literature. ( 27284430 )
2016
20
Circumferential anorectal leiomyomatosis. ( 27023346 )
2016
21
Vanishing intravenous leiomyomatosis after hysterectomy: Assessment of the need to perform complete resection. ( 27080990 )
2016
22
Intravenous leiomyomatosis: an unusual growth pattern in uterine myomas. ( 26850648 )
2016
23
Surgical Treatment Strategies of Intravenous Leiomyomatosis withRight Cardiac Cavities Extension. ( 27594158 )
2016
24
Immunohistochemistry for 2-Succinocysteine (2SC) and Fumarate Hydratase (FH) in Cutaneous Leiomyomas May Aid in Identification of Patients With HLRCC (Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome). ( 26945337 )
2016
25
Complete resection of intracardiac leiomyomatosis through an abdominal approach under peripheral cardiopulmonary bypass. ( 27436095 )
2016
26
A twist on piloleiomyoma: segmental cutaneous leiomyomatosis. ( 27584971 )
2016
27
Unusual intravascular leiomyomatosis arising from the pulmonary artery. ( 27076367 )
2016
28
Successful One Stage Surgical Removal of Intravenous Leiomyomatosis with On Pump Beating Heart Technique. ( 26847505 )
2016
29
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
30
IV Leiomyomatosis on FDG PET/CT. ( 26914578 )
2016
31
Pelvic Intravenous Leiomyomatosis - Case Report. ( 27529764 )
2016
32
Radical nephrectomy and regional lymph node dissection for locally advanced type 2 papillary renal cell carcinoma in an at-risk individual from a family with hereditary leiomyomatosis and renal cell cancer: a case report. ( 26983443 )
2016
33
Intravenous leiomyomatosis: an unusual intermediate between benign and malignant uterine smooth muscle tumors. ( 26892441 )
2016
34
Intravenous leiomyomatosis with inferior vena cava or intracardiac extension and concurrent bilateral multiple pulmonary nodules: A report of 2 cases. ( 27583911 )
2016
35
Intracardiac leiomyomatosis presenting as an intraoperative consultation. ( 27067811 )
2016
36
Different surgical strategies of patients with intravenous leiomyomatosis. ( 27631266 )
2016
37
A Rare Concurrence of Leiomyomatosis Peritonealis Disseminata, Leiomyosarcoma of the Pelvis and Leiomyomatous Nodule of the Liver. ( 26998373 )
2016
38
Uterine Intravenous Leiomyomatosis with Intracardiac Extension and Pulmonary Benign Metastases on FDG PET/CT: A Case Report. ( 26957916 )
2016
39
Loss of Fumarate Hydratase and Aberrant Protein Succination Detected With S-(2-Succino)-Cysteine Staining to Identify Patients With Multiple Cutaneous and Uterine Leiomyomatosis and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 27097334 )
2016
40
Intravenous leiomyomatosis disguised as a large deep vein thrombosis. ( 27761178 )
2016
41
A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma. ( 27144040 )
2016
42
Intravascular adenomyomatosis: a rare variant of A+ntravascular leiomyomatosis. ( 27924660 )
2016
43
Leiomyomatosis Peritonealis Disseminata (LPD) ten years after laparoscopic myomectomy associated with ascites and lymph nodes enlargement: a case report. ( 27280492 )
2016
44
Hereditary leiomyomatosis and renal cell cancer syndrome: identification and clinical characterization of a novel mutation in the FH gene in a Colombian family. ( 27566483 )
2016
45
Intravascular leiomyomatosis: an exceptional entity. ( 27328511 )
2016
46
Intravenous Leiomyomatosis in the Parametrium. ( 26802907 )
2016
47
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. ( 26900816 )
2016
48
Surgical Treatment of Intracardiac-Extending Intravenous Leiomyomatosis: A Single Center Experience. ( 27355139 )
2016
49
One-stage complete resection of giant intracardiac leiomyomatosis with moderate hypothermia extracorporeal circulation and beating heart technique with 36A months follow-up-a case report. ( 27072649 )
2016
50
Disseminated peritoneal leiomyomatosis postmorcellated resection of uterine leiomyomatous tissue. ( 27649643 )
2016

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 18)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
2
Show member pathways
12.64 COL4A3 COL4A4 COL4A5 COL4A6
3
Show member pathways
12.58 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.5 COL4A3 COL4A4 COL4A5 COL4A6
5 12.43 COL4A3 COL4A4 COL4A5 COL4A6 FH
6
Show member pathways
12.38 COL4A3 COL4A4 COL4A5 COL4A6
7 12.33 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
11.88 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
11.83 FH LDHA SDHB
10 11.66 COL4A3 COL4A4 COL4A5 COL4A6
11 11.6 COL4A3 COL4A4 COL4A5 COL4A6
12 11.52 COL4A3 COL4A4 COL4A5
13 11.48 COL4A3 COL4A4 COL4A5 COL4A6
14 11.24 COL4A3 COL4A4 COL4A5 COL4A6
15
Show member pathways
11.2 FH LDHA
16 11.2 COL4A3 COL4A4 COL4A5
17 10.95 COL4A3 COL4A4 COL4A5 COL4A6
18 10.53 COL4A3 COL4A4 COL4A5 COL4A6

GO Terms for Leiomyomatosis

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

id Name GO ID Score Top Affiliating Genes
1 proteinaceous extracellular matrix GO:0005578 9.62 COL4A3 COL4A4 COL4A5 COL4A6
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A3 COL4A4 COL4A5 COL4A6
3 collagen trimer GO:0005581 9.46 COL4A3 COL4A4 COL4A5 COL4A6
4 basal lamina GO:0005605 9.37 COL4A4 COL4A5
5 basement membrane GO:0005604 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:

id Name GO ID Score Top Affiliating Genes
1 transcription initiation from RNA polymerase II promoter GO:0006367 9.54 ESR1 MED12 PGR
2 extracellular matrix organization GO:0030198 9.46 COL4A3 COL4A4 COL4A5 COL4A6
3 tricarboxylic acid cycle GO:0006099 9.4 FH SDHB
4 intracellular steroid hormone receptor signaling pathway GO:0030518 9.32 ESR1 MED12
5 glomerular basement membrane development GO:0032836 9.26 COL4A3 COL4A4
6 collagen catabolic process GO:0030574 9.26 COL4A3 COL4A4 COL4A5 COL4A6
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:

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.16 ESR1 PGR
2 steroid binding GO:0005496 8.96 ESR1 PGR
3 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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