Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases 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

Wikipedia : 72 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 158)
id Related Disease Score Top Affiliating Genes
1 leiomyomatosis and renal cell cancer 33.7 FH LDHA SDHB
2 intravenous leiomyomatosis 12.2
3 disseminated peritoneal leiomyomatosis 12.2
4 diffuse peritoneal leiomyomatosis 11.9
5 leiomyomatosis, esophageal and vulval, with nephropathy 11.8
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 renal cell carcinoma, papillary 10.8
14 acute pandysautonomia 10.7 COL4A5 COL4A6
15 multiple cutaneous and uterine leiomyomas 10.7
16 bartholin's gland benign neoplasm 10.6 ESR1 PGR
17 central nervous system organ benign neoplasm 10.6 ESR1 PGR
18 gallbladder leiomyoma 10.6 ESR1 PGR
19 lung adenoma 10.6 ESR1 PGR
20 glaucoma, hereditary 10.6 ESR1 PGR
21 fallopian tube benign neoplasm 10.6 ESR1 PGR
22 paranasal sinus disease 10.6 ESR1 PGR
23 dartoic leiomyoma 10.6 ESR1 PGR
24 urinary bladder inverted papilloma 10.6 ESR1 PGR
25 spinal cancer 10.6 ESR1 PGR
26 subglottis verrucous carcinoma 10.6 ESR1 PGR
27 deafness, autosomal dominant 8/12 10.6 ESR1 PGR
28 intestinal perforation 10.6 ESR1 PGR
29 gastric tubular adenocarcinoma 10.6 ESR1 PGR
30 her2-receptor positive breast cancer 10.6 ESR1 PGR
31 superficial basal cell carcinoma 10.6 ESR1 PGR
32 sarcomatoid squamous cell skin carcinoma 10.6 ESR1 PGR
33 pineal region meningioma 10.6 ESR1 PGR
34 bladder colloid adenocarcinoma 10.6 ESR1 PGR
35 ovarian mesodermal adenosarcoma 10.6 ESR1 PGR
36 endophthalmitis 10.6 ESR1 PGR
37 gastroesophageal junction adenocarcinoma 10.6 ESR1 PGR
38 osteogenesis imperfecta 10.6 ESR1 PGR
39 chest wall lymphoma 10.6 ESR1 PGR
40 cutaneous mucoepidermoid carcinoma 10.6 ESR1 PGR
41 retinal detachment 10.6 ESR1 PGR
42 holoprosencephaly 6 10.6 ESR1 PGR
43 acute thyroiditis 10.6 ESR1 PGR
44 retinitis pigmentosa 20 10.5 ESR1 PGR
45 kidney clear cell sarcoma 10.5 ESR1 PGR
46 urethra clear cell adenocarcinoma 10.5 ESR1 PGR
47 dmd-related dilated cardiomyopathy 10.5 ESR1 PGR
48 rectal neoplasm 10.5 ESR1 PGR
49 adenosine monophosphate deaminase 1 deficiency 10.5 ESR1 PGR
50 perinatal jaundice due to hepatocellular damage 10.5 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 9.92 COL4A4 PGR COL4A5 ESR1 FH GNRH1
2 cardiovascular system MP:0005385 9.91 PGR COL4A5 SDHB ESR1 LDHA COL4A3
3 mortality/aging MP:0010768 9.91 COL4A5 SDHB ESR1 FH LDHA COL4A3
4 neoplasm MP:0002006 9.55 PGR SDHB ESR1 GNRH1 LDHA
5 normal MP:0002873 9.5 SDHB COL4A6 ESR1 GNRH1 LDHA MED12
6 renal/urinary system MP:0005367 9.1 COL4A5 ESR1 FH GNRH1 COL4A3 COL4A4

Drugs & Therapeutics for Leiomyomatosis

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

(show all 21)
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 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)

id 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:

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

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 667)
id Title Authors Year
1
Radio-surgical and pathologic correlations of pelvic intravenous leiomyomatosis. ( 28643137 )
2017
2
Reassessing the clinical spectrum associated with hereditary leiomyomatosis and renal cell carcinoma syndrome in French FH mutation carriers. ( 28300276 )
2017
3
Intravenous Leiomyomatosis Extending from the Pelvic Veins to the Heart. ( 28479243 )
2017
4
Hereditary leiomyomatosis and renal cell cancer (HLRCC): cutaneous and renal manifestations requiring a multidisciplinary team approach. ( 28400389 )
2017
5
Characterization of contiguous gene deletions in COL4A6 and COL4A5 in Alport syndrome-diffuse leiomyomatosis. ( 28275241 )
2017
6
A case of disseminated peritoneal leiomyomatosis after two laparoscopic procedures due to uterine fibroids. ( 28446940 )
2017
7
Intravenous leiomyomatosis of the uterus: A clinicopathological analysis of nine cases and literature review. ( 28600049 )
2017
8
Intravenous leiomyomatosis of the subclavian vein. ( 28214494 )
2017
9
Perioperative management of intracardiac leiomyomatosis: An observational cohort study. ( 28723765 )
2017
10
Hereditary leiomyomatosis and renal cell cancer syndrome: An update and review. ( 28314682 )
2017
11
"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
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
A Case of Simultaneous Benign Metastasizing Leiomyomas and Disseminated Peritoneal Leiomyomatosis Following Endoscopic Power Morcellation for Uterine Disease. ( 27748666 )
2017
14
Intracardiac Extension of Intravenous Leiomyomatosis. ( 28109375 )
2017
15
Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome Combined With Adrenocortical Carcinoma on 18F-FDG PET/CT. ( 28737576 )
2017
16
Long-term efficacy and safety of aromatase inhibitor use for leiomyomatosis peritonealis disseminata. ( 28691239 )
2017
17
Case report of an intracaval leiomyomatosis 10 months after complete hysterectomy. ( 28414995 )
2017
18
Comprehensive genomic and phenotypic characterization of germline FH deletion in hereditary leiomyomatosis and renal cell carcinoma. ( 28196407 )
2017
19
A Diagnostic Dilemma of Recurrent Disseminated Peritoneal Leiomyomatosis with Hypertrophied Omental Vessels: Imaging and Embolization of Omental Branches with Positive Outcome. ( 28251003 )
2017
20
Post-hysterectomy intravenous leiomyomatosis: A case of successful multidisciplinary surgery under non-extracorporeal circulation. ( 28123726 )
2017
21
Diffuse peritoneal leiomyomatosis status post laparoscopic hysterectomy with power morcellation: A case report with review of literature. ( 28203626 )
2017
22
Clinical characteristics and prognostic features of intravenous leiomyomatosis with inferior vena cava orA intracardiac extension. ( 28623982 )
2017
23
Novel Fumarate Hydratase Mutation in Siblings With Early Onset Uterine Leiomyomas and Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome. ( 28700432 )
2017
24
Leiomyomatosis peritonealis disseminata. ( 28408050 )
2017
25
Treatment of cutaneous leiomyomas with 5% lidocaine patches in a patient with hereditary leiomyomatosis and renal cell cancer (Reed syndrome). ( 28884140 )
2017
26
Hereditary leiomyomatosis and renal cell cancer syndrome: A novel mutation in the FH gene. ( 28691741 )
2017
27
Intravenous Leiomyomatosis in the Parametrium. ( 26802907 )
2016
28
Management of Intravenous Leiomyomatosis of Uterus with Extension to Heart. ( 26838087 )
2016
29
Melanoma and basal cell carcinoma in the hereditary leiomyomatosis and renal cell cancer syndrome. An expansion of the oncologic spectrum. ( 28400895 )
2016
30
Leiomyomatosis peritonealis disseminata: A case report and review of the literature. ( 27284430 )
2016
31
IV Leiomyomatosis on FDG PET/CT. ( 26914578 )
2016
32
Disseminated peritoneal leiomyomatosis postmorcellated resection of uterine leiomyomatous tissue. ( 27649643 )
2016
33
Intravascular leiomyomatosis: an exceptional entity. ( 27328511 )
2016
34
Uterine Intravenous Leiomyomatosis with Intracardiac Extension and Pulmonary Benign Metastases on FDG PET/CT: A Case Report. ( 26957916 )
2016
35
Different surgical strategies of patients with intravenous leiomyomatosis. ( 27631266 )
2016
36
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
37
Pelvic Intravenous Leiomyomatosis - Case Report. ( 27529764 )
2016
38
Surgical Treatment of Intracardiac-Extending Intravenous Leiomyomatosis: A Single Center Experience. ( 27355139 )
2016
39
Intracardiac Leiomyomatosis - an Unusual Cause of Syncope in a Middle-Aged Woman. ( 27743856 )
2016
40
Intracardiac leiomyomatosis presenting as an intraoperative consultation. ( 27067811 )
2016
41
Intravenous leiomyomatosis: an unusual growth pattern in uterine myomas. ( 26850648 )
2016
42
The value of (18)F-FDG PET/CT in the diagnosis of uterine intravenous leiomyomatosis extended into the right atrium. ( 27331217 )
2016
43
Iatrogenic parasitic leiomyoma and leiomyomatosis peritonealis disseminata following uterine morcellation. ( 27125448 )
2016
44
Intravenous leiomyomatosis with inferior vena cava or intracardiac extension and concurrent bilateral multiple pulmonary nodules: A report of 2 cases. ( 27583911 )
2016
45
Fumarate Hydratase-deficient Renal Cell Carcinoma Is Strongly Correlated With Fumarate Hydratase Mutation and Hereditary Leiomyomatosis and Renal Cell Carcinoma Syndrome. ( 26900816 )
2016
46
Uterine leiomyomatosis with intracardiac extension. ( 27999133 )
2016
47
A Case of Hereditary Leiomyomatosis and Renal Cell Carcinoma. ( 27144040 )
2016
48
Intravenous leiomyomatosis disguised as a large deep vein thrombosis. ( 27761178 )
2016
49
Intravenous leiomyomatosis: an unusual intermediate between benign and malignant uterine smooth muscle tumors. ( 26892441 )
2016
50
Successful One-Stage Operative Resection of an Intravenous Leiomyomatosis Involving the Right-Sided Heart Chambers and Pulmonary Artery. ( 27146232 )
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
12.78 COL4A3 COL4A4 COL4A5 COL4A6 GNRH1
2
Show member pathways
12.63 COL4A3 COL4A4 COL4A5 COL4A6
3
Show member pathways
12.57 COL4A3 COL4A4 COL4A5 COL4A6
4
Show member pathways
12.49 COL4A3 COL4A4 COL4A5 COL4A6
5 12.43 COL4A3 COL4A4 COL4A5 COL4A6 FH
6 12.41 COL4A3 COL4A4 COL4A5 COL4A6
7
Show member pathways
12.37 COL4A3 COL4A4 COL4A5 COL4A6
8
Show member pathways
11.88 COL4A3 COL4A4 COL4A5 COL4A6
9
Show member pathways
11.82 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 11.2 COL4A3 COL4A4 COL4A5
16
Show member pathways
11.19 FH LDHA
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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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