Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 12 55 44 15 73
Leiomyomatosis, No Icd-O Subtype 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 44 D018231
NCIt 50 C3748
SNOMED-CT 68 189789002 75210008
UMLS 73 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 Phospholipase-C Pathway and Circadian entrainment. 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 hematopoietic system

Wikipedia : 76 A leiomyoma, also known as fibroids, is a benign smooth muscle tumor that very rarely becomes cancer... more...

Related Diseases for Leiomyomatosis

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

(show top 50) (show all 167)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 34.6 FH SDHB
2 x-linked diffuse leiomyomatosis-alport syndrome 33.9 COL4A5 COL4A6
3 alport syndrome, x-linked 31.4 COL4A3 COL4A4 COL4A5 COL4A6
4 endometriosis 30.5 ESR1 GNRH1 PGR
5 vulvar leiomyoma 30.4 ESR1 PGR
6 adenomyosis 30.3 ESR1 PGR
7 endometriosis of ovary 30.3 ESR1 PGR
8 smooth muscle tumor 30.2 ESR1 PGR
9 leiomyosarcoma 30.2 FH MED12 PGR
10 myoma 29.3 ESR1 GNRH1 MED12 PGR
11 leiomyoma 28.3 COL4A5 COL4A6 ESR1 FH GNRH1 MED12
12 intravenous leiomyomatosis 12.4
13 disseminated peritoneal leiomyomatosis 12.3
14 leiomyomatosis, diffuse, with alport syndrome 12.2
15 diffuse peritoneal leiomyomatosis 12.1
16 uterus intravascular leiomyomatosis 11.9
17 uterine corpus leiomyomatosis 11.9
18 uterine corpus diffuse leiomyomatosis 11.9
19 leiomyomatosis of esophagus, cataract and hematuria 11.8
20 renal cell carcinoma, papillary, 1 11.3
21 leiomyoma of vulva and esophagus 11.1
22 vulvar syringoma 10.7 ESR1 PGR
23 lung leiomyoma 10.7 ESR1 PGR
24 vestibular gland benign neoplasm 10.7 ESR1 PGR
25 bartholin's gland adenoma 10.7 ESR1 PGR
26 glassy cell carcinoma of the cervix 10.7 ESR1 PGR
27 vulvar benign neoplasm 10.7 ESR1 PGR
28 trigonitis 10.7 ESR1 PGR
29 predominantly cortical thymoma 10.7 ESR1 PGR
30 breast medullary carcinoma 10.7 ESR1 PGR
31 breast scirrhous carcinoma 10.6 ESR1 PGR
32 progesterone resistance 10.6 ESR1 PGR
33 progesterone-receptor positive breast cancer 10.6 ESR1 PGR
34 cribriform carcinoma 10.6 ESR1 PGR
35 oncocytic breast carcinoma 10.6 ESR1 PGR
36 endometrial squamous cell carcinoma 10.6 ESR1 PGR
37 gastric signet ring cell adenocarcinoma 10.6 ESR1 PGR
38 endometrial mucinous adenocarcinoma 10.6 ESR1 PGR
39 adenoid basal cell carcinoma 10.6 ESR1 PGR
40 apocrine adenocarcinoma 10.6 ESR1 PGR
41 gender identity disorder 10.6 ESR1 PGR
42 bartholin's gland benign neoplasm 10.6 ESR1 PGR
43 deep angioma 10.6 ESR1 PGR
44 synchronous bilateral breast carcinoma 10.6 ESR1 PGR
45 breast adenoid cystic carcinoma 10.6 ESR1 PGR
46 cervical carcinosarcoma 10.6 ESR1 PGR
47 estrogen excess 10.6 ESR1 PGR
48 intramuscular hemangioma 10.6 ESR1 PGR
49 glycogen-rich clear cell breast carcinoma 10.6 ESR1 PGR
50 mammographic density 10.6 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.91 ESR1 FH GNRH1 PGR CARMIL2 COL4A3
2 hematopoietic system MP:0005397 9.87 ESR1 GNRH1 CARMIL2 PGR COL4A3 SDHB
3 immune system MP:0005387 9.7 ESR1 GNRH1 CARMIL2 PGR COL4A3 COL4A4
4 normal MP:0002873 9.43 ESR1 GNRH1 MED12 PGR SDHB COL4A6
5 renal/urinary system MP:0005367 9.17 ESR1 FH GNRH1 COL4A3 SDHB COL4A4

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
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
4
Bevacizumab Approved, Investigational Phase 2 216974-75-3
5
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
6 abobotulinumtoxinA Phase 2
7 Cholinergic Agents Phase 2
8 Neuromuscular Agents Phase 2
9 Neurotransmitter Agents Phase 2
10 onabotulinumtoxinA Phase 2
11 Peripheral Nervous System Agents Phase 2
12 Botulinum Toxins, Type A Phase 2
13 Botulinum Toxins Phase 2
14
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
15 Angiogenesis Inhibitors Phase 2
16 Angiogenesis Modulating Agents Phase 2
17 Hypoglycemic Agents Phase 1, Phase 2
18 Protein Kinase Inhibitors 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 12)
# 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 French National Registry of Rare Peritoneal Surface Malignancies Active, not recruiting NCT02834169
12 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:

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

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 710)
# Title Authors Year
1
Intravascular leiomyomatosis with extension into the pulmonary artery. ( 29962045 )
2018
2
Disseminated Peritoneal Leiomyomatosis. ( 29959641 )
2018
3
Diagnosis and surgical management of inferior vena cava leiomyomatosis. ( 29784593 )
2018
4
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
5
Disseminated peritoneal leiomyomatosis (DPL): a case report. ( 29620425 )
2018
6
One-stage surgery for removal of intravascular leiomyomatosis extending to right ventricle. ( 29538195 )
2018
7
Leiomyomatosis peritonealis disseminata: A case report of recurrent presentation and literature review. ( 29933173 )
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
Correction to: Reassessing the clinical spectrum associated with Hereditary Leiomyomatosis and Renal Cell Carcinoma syndrome in French FH mutation carriers. ( 29655270 )
2018
10
Nivolumab-Induced Encephalitis in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 29593922 )
2018
11
Multiple Cutaneous and Uterine Leiomyomatosis with Renal Involvement: Report of a Rare Association. ( 29527031 )
2018
12
Perivascular Leiomyomatosis: A Unique Case Report. ( 29692211 )
2018
13
Leiomyomatosis peritonealisis disseminata: Two unusual cases with literature review. ( 29196156 )
2018
14
Imaging Features of Uterine Leiomyomatosis with the Inferior Vena Cava and the Right Atrium Involvement. ( 29578134 )
2018
15
Disseminated peritoneal leiomyomatosis 10 years after a laparoscopic myomectomy: A brief communication. ( 29547807 )
2018
16
Intravenous leiomyomatosis of the uterus: A clinicopathologic analysis of 13 cases with an emphasis on histogenesis. ( 29699902 )
2018
17
Surgical treatment for intravenous-cardiac leiomyomatosis. ( 29514177 )
2018
18
Intravenous leiomyomatosis with intracardiac extension. ( 29048548 )
2018
19
Hemangioblastoma in Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome: a phenotypic overlap between VHL and HLRCC Syndromes. ( 29619618 )
2018
20
Contrast-enhanced CT findings of intravenous leiomyomatosis. ( 29395222 )
2018
21
A retrospective review of 48 individuals, including 12 families, molecularly diagnosed with hereditary leiomyomatosis and renal cell cancer (HLRCC). ( 29423582 )
2018
22
FH inactivation in hereditary leiomyomatosis and renal cell cancer is synthetic lethal with ferroptosis induction. ( 29917289 )
2018
23
A Case Report of Sudden Death From Intracardiac Leiomyomatosis. ( 29351101 )
2018
24
Hereditary leiomyomatosis and renal cell carcinoma: Case report and review of the literature. ( 29416287 )
2018
25
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
26
Laparoscopic Dissection of Extensive Secondary Disseminated Peritoneal Leiomyomatosis. ( 29032253 )
2017
27
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
28
Multinodular esophageal leiomyomatosis: An uncommon cause of mediastinal mass. ( 29033067 )
2017
29
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
30
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
31
"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
32
Intravenous leiomyomatosis of the subclavian vein. ( 28214494 )
2017
33
Disseminated Peritoneal Leiomyomatosis. ( 29112636 )
2017
34
Leiomyomatosis peritonealis disseminata. ( 28408050 )
2017
35
Intravenous leiomyomatosis of the uterus: A clinicopathological analysis of nine cases and literature review. ( 28600049 )
2017
36
Hereditary leiomyomatosis and renal cell cancer: Cutaneous lesions & atypical fibroids. ( 29593997 )
2017
37
Post-hysterectomy intravenous leiomyomatosis: A case of successful multidisciplinary surgery under non-extracorporeal circulation. ( 28123726 )
2017
38
Massive pelvic recurrence of uterine leiomyomatosis with intracaval-intracardiac extension: video case report and literature review. ( 29187188 )
2017
39
Anestheic Management of a Patient with Intravenous Leiomyomatosis Extending into the Right Atrium. ( 29693945 )
2017
40
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. ( 28275241 )
2017
41
Perioperative management of intracardiac leiomyomatosis: An observational cohort study. ( 28723765 )
2017
42
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
43
Diffuse peritoneal leiomyomatosis status post laparoscopic hysterectomy with power morcellation: A case report with review of literature. ( 28203626 )
2017
44
Is Immunohistochemical Screening of Cutaneous Leiomyomas for the Early Detection of Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Justified? ( 29053494 )
2017
45
Hereditary leiomyomatosis and renal cell cancer syndrome: a family affair. ( 28122802 )
2017
46
Intracardiac Extension of Intravenous Leiomyomatosis. ( 28109375 )
2017
47
A Case of Simultaneous Benign Metastasizing Leiomyomas and Disseminated Peritoneal Leiomyomatosis Following Endoscopic Power Morcellation for Uterine Disease. ( 27748666 )
2017
48
Successful maternal and perinatal outcomes in a term pregnancy with giant abdominopelvic leiomyomatosis. ( 29066658 )
2017
49
Hereditary leiomyomatosis and renal cell cancer syndrome associated renal cell carcinoma. ( 28195105 )
2017
50
A Diagnostic Dilemma of Recurrent Disseminated Peritoneal Leiomyomatosis with Hypertrophied Omental Vessels: Imaging and Embolization of Omental Branches with Positive Outcome. ( 28251003 )
2017

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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.8 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
2
Show member pathways
12.78 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 PGR
3
Show member pathways
12.69 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.63 COL4A3 COL4A4 COL4A5 COL4A6
5
Show member pathways
12.57 COL4A3 COL4A4 COL4A5 COL4A6
6
Show member pathways
12.49 COL4A3 COL4A4 COL4A5 COL4A6
7 12.45 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 FH
8
Show member pathways
12.38 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
11.93 COL4A3 COL4A4 COL4A5 COL4A6
10 11.7 COL4A3 COL4A4 COL4A5 COL4A6
11 11.65 COL4A3 COL4A4 COL4A5 COL4A6
12 11.59 COL4A3 COL4A4 COL4A5 COL4A6
13 11.54 COL4A3 COL4A4 COL4A5
14 11.24 COL4A3 COL4A4 COL4A5 COL4A6
15 11.22 COL4A3 COL4A4 COL4A5
16 10.95 COL4A3 COL4A4 COL4A5 COL4A6
17 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 endoplasmic reticulum lumen GO:0005788 9.56 COL4A3 COL4A4 COL4A5 COL4A6
2 collagen trimer GO:0005581 9.46 COL4A3 COL4A4 COL4A5 COL4A6
3 basal lamina GO:0005605 9.32 COL4A4 COL4A5
4 basement membrane GO:0005604 9.26 COL4A3 COL4A4 COL4A5 COL4A6
5 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
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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