Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 12 51 41 14 69
Leiomyomatosis, No Icd-O Subtype 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 41 D018231
NCIt 46 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 hereditary leiomyomatosis and renal cell cancer and x-linked diffuse leiomyomatosis-alport syndrome. 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 Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include uterus, heart and kidney, and related phenotypes are homeostasis/metabolism and hematopoietic system

Related Diseases for Leiomyomatosis

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

(show top 50) (show all 164)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 34.3 FH SDHB
2 x-linked diffuse leiomyomatosis-alport syndrome 33.5 COL4A5 COL4A6
3 alport syndrome, x-linked 31.6 COL4A3 COL4A4 COL4A5 COL4A6
4 endometriosis 30.4 ESR1 GNRH1 PGR
5 leiomyoma, uterine 30.1 ESR1 FH GNRH1 PGR
6 leiomyosarcoma 30.1 FH MED12 PGR
7 vulvar leiomyoma 30.1 ESR1 PGR
8 adenomyosis 30.0 ESR1 PGR
9 endometriosis of ovary 30.0 ESR1 PGR
10 smooth muscle tumor 29.9 ESR1 PGR
11 leiomyoma 29.8 COL4A5 COL4A6 ESR1 FH GNRH1 PGR
12 myoma 29.6 ESR1 GNRH1 MED12 PGR
13 intravenous leiomyomatosis 12.4
14 disseminated peritoneal leiomyomatosis 12.3
15 leiomyomatosis, diffuse, with alport syndrome 12.2
16 diffuse peritoneal leiomyomatosis 12.0
17 uterus intravascular leiomyomatosis 11.9
18 uterine corpus leiomyomatosis 11.9
19 uterine corpus diffuse leiomyomatosis 11.9
20 leiomyomatosis of esophagus, cataract and hematuria 11.8
21 renal cell carcinoma, papillary, 1 11.3
22 leiomyoma of vulva and esophagus 11.1
23 peritonitis 10.5
24 vulvar syringoma 10.4 ESR1 PGR
25 renal cell carcinoma, nonpapillary 10.4
26 esophagitis 10.4
27 vestibular gland benign neoplasm 10.4 ESR1 PGR
28 lung leiomyoma 10.4 ESR1 PGR
29 bartholin's gland adenoma 10.4 ESR1 PGR
30 glassy cell carcinoma of the cervix 10.4 ESR1 PGR
31 vulvar benign neoplasm 10.4 ESR1 PGR
32 trigonitis 10.4 ESR1 PGR
33 predominantly cortical thymoma 10.4 ESR1 PGR
34 breast medullary carcinoma 10.4 ESR1 PGR
35 breast scirrhous carcinoma 10.4 ESR1 PGR
36 progesterone resistance 10.4 ESR1 PGR
37 progesterone-receptor positive breast cancer 10.4 ESR1 PGR
38 cribriform carcinoma 10.4 ESR1 PGR
39 oncocytic breast carcinoma 10.4 ESR1 PGR
40 bartholin's gland benign neoplasm 10.4 ESR1 PGR
41 endometrial squamous cell carcinoma 10.4 ESR1 PGR
42 gastric signet ring cell adenocarcinoma 10.4 ESR1 PGR
43 endometrial mucinous adenocarcinoma 10.4 ESR1 PGR
44 adenoid basal cell carcinoma 10.4 ESR1 PGR
45 deep angioma 10.4 ESR1 PGR
46 apocrine adenocarcinoma 10.4 ESR1 PGR
47 gender identity disorder 10.4 ESR1 PGR
48 cervical carcinosarcoma 10.4 ESR1 PGR
49 synchronous bilateral breast carcinoma 10.4 ESR1 PGR
50 breast adenoid cystic carcinoma 10.4 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.81 CARMIL2 COL4A3 COL4A4 COL4A5 ESR1 FH
2 hematopoietic system MP:0005397 9.8 CARMIL2 COL4A3 COL4A5 ESR1 GNRH1 PGR
3 normal MP:0002873 9.43 COL4A6 ESR1 GNRH1 MED12 PGR SDHB
4 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 21)
# 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 4091 14219
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 Neuromuscular Agents Phase 2
11 Neurotransmitter Agents Phase 2
12 onabotulinumtoxinA Phase 2
13 Peripheral Nervous System Agents Phase 2
14 Angiogenesis Inhibitors Phase 2
15 Angiogenesis Modulating Agents Phase 2
16
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
17 Protein Kinase Inhibitors Phase 2
18 Hypoglycemic Agents Phase 1, Phase 2
19 Antimetabolites Phase 2
20 Antimetabolites, Antineoplastic Phase 2
21
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:

(show all 11)

# 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 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 Bevacizumab;Erlotinib
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 Vandetanib;Metformin
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 Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
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:

38
Uterus, Heart, Kidney, Smooth Muscle, Lymph Node, Colon, Lung

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 685)
# Title Authors Year
1
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
2
Intravenous leiomyomatosis with intracardiac extension. ( 29048548 )
2018
3
A Case Report of Sudden Death From Intracardiac Leiomyomatosis. ( 29351101 )
2018
4
Contrast-enhanced CT findings of intravenous leiomyomatosis. ( 29395222 )
2018
5
Leiomyomatosis peritonealisis disseminata: Two unusual cases with literature review. ( 29196156 )
2018
6
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 29423582 )
2018
7
Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature. ( 29416287 )
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
A Diagnostic Dilemma of Recurrent Disseminated Peritoneal Leiomyomatosis with Hypertrophied Omental Vessels: Imaging and Embolization of Omental Branches with Positive Outcome. ( 28251003 )
2017
10
Intravenous leiomyomatosis of the subclavian vein. ( 28214494 )
2017
11
Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair. ( 28122802 )
2017
12
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
13
"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
14
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
15
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
16
Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma. ( 28196407 )
2017
17
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
18
Post-hysterectomy intravenous leiomyomatosis: A case of successful multidisciplinary surgery under non-extracorporeal circulation. ( 28123726 )
2017
19
Multinodular esophageal leiomyomatosis: An uncommon cause of mediastinal mass. ( 29033067 )
2017
20
Clinical characteristics and prognostic features of intravenous leiomyomatosis with inferior vena cava orA intracardiac extension. ( 28623982 )
2017
21
Laparoscopic Dissection of Extensive Secondary Disseminated Peritoneal Leiomyomatosis. ( 29032253 )
2017
22
Is Immunohistochemical Screening of Cutaneous Leiomyomas for the Early Detection of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Justified? ( 29053494 )
2017
23
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. ( 28300276 )
2017
24
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2017
25
Successful maternal and perinatal outcomes in a term pregnancy with giant abdominopelvic leiomyomatosis. ( 29066658 )
2017
26
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Combined With Adrenocortical Carcinoma on 18F-FDG PET/CT. ( 28737576 )
2017
27
A Case of Simultaneous Benign Metastasizing Leiomyomas and Disseminated Peritoneal Leiomyomatosis Following Endoscopic Power Morcellation for Uterine Disease. ( 27748666 )
2017
28
Disseminated Peritoneal Leiomyomatosis. ( 29112636 )
2017
29
A case of disseminated peritoneal leiomyomatosis after two laparoscopic procedures due to uterine fibroids. ( 28446940 )
2017
30
Intravenous Leiomyomatosis Extending from the Pelvic Veins to the Heart. ( 28479243 )
2017
31
Case report of an intracaval leiomyomatosis 10 months after complete hysterectomy. ( 28414995 )
2017
32
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
33
Massive pelvic recurrence of uterine leiomyomatosis with intracaval-intracardiac extension: video case report and literature review. ( 29187188 )
2017
34
Multiple cutaneous and uterine leiomyomata with features of benign metastasing leiomyomatosis: a novel mutation of the fumarate hydratase gene. ( 29266330 )
2017
35
Radio-surgical and pathologic correlations of pelvic intravenous leiomyomatosis. ( 28643137 )
2017
36
Diffuse peritoneal leiomyomatosis status post laparoscopic hysterectomy with power morcellation: A case report with review of literature. ( 28203626 )
2017
37
Intravenous leiomyomatosis of the uterus: A clinicopathological analysis of nine cases and literature review. ( 28600049 )
2017
38
Leiomyomatosis peritonealis disseminata. ( 28408050 )
2017
39
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma. ( 28195105 )
2017
40
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. ( 28275241 )
2017
41
Long-term efficacy and safety of aromatase inhibitor use for leiomyomatosis peritonealis disseminata. ( 28691239 )
2017
42
Intracardiac Extension of Intravenous Leiomyomatosis. ( 28109375 )
2017
43
Leiomyomatosis peritonealis disseminata: A case report and meticulous review of the literature. ( 28965085 )
2017
44
Hereditary leiomyomatosis and renal cell carcinoma syndrome: a case report and implications of early onset. ( 29267457 )
2017
45
Perioperative management of intracardiac leiomyomatosis: An observational cohort study. ( 28723765 )
2017
46
Disseminated Peritoneal Leiomyomatosis Status Post Laparoscopic Hysterectomy with Morcellation. ( 28580061 )
2016
47
Paradoxical Tumor Embolism and Recurrent Intracardiac Mass From Uterine Intravenous Leiomyomatosis. ( 27554224 )
2016
48
Uterine leiomyomatosis with intracardiac extension. ( 27999133 )
2016
49
First Presentation of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Pregnancy. ( 26902252 )
2016
50
Circumferential anorectal leiomyomatosis. ( 27023346 )
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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.09 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
2
Show member pathways
12.81 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
3
Show member pathways
12.72 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.65 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.6 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.5 COL4A3 COL4A4 COL4A5 COL4A6
7 12.46 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 FH
8
Show member pathways
12.39 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
12.35 COL4A3 COL4A4 COL4A5 COL4A6 ESR1
10
Show member pathways
11.97 COL4A3 COL4A4 COL4A5 COL4A6
11
Show member pathways
11.93 COL4A3 COL4A4 COL4A5 COL4A6
12 11.7 COL4A3 COL4A4 COL4A5 COL4A6
13 11.65 COL4A3 COL4A4 COL4A5 COL4A6
14 11.59 COL4A3 COL4A4 COL4A5 COL4A6
15 11.56 COL4A3 COL4A4 COL4A5
16 11.24 COL4A3 COL4A4 COL4A5 COL4A6
17 11.22 COL4A3 COL4A4 COL4A5
18 10.95 COL4A3 COL4A4 COL4A5 COL4A6
19 10.8 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
20 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 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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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