MCID: LMY003
MIFTS: 43

Leiomyomatosis

Categories: Cancer diseases

Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 12 55 44 15 72
Leiomyomatosis, No Icd-O Subtype 12

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 44 D018231
NCIt 50 C3748
SNOMED-CT 68 75210008
UMLS 72 C0206654

Summaries for Leiomyomatosis

Disease Ontology : 12 A leiomyoma that is multiple and diffuse.

MalaCards based summary : Leiomyomatosis, also known as leiomyomatosis, no icd-o subtype, is related to hereditary leiomyomatosis and renal cell cancer and diffuse peritoneal leiomyomatosis. 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 Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, smooth muscle and heart, and related phenotypes are homeostasis/metabolism and hematopoietic system

Wikipedia : 75 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 259)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 34.9 SDHB FH
2 diffuse peritoneal leiomyomatosis 33.2 PGR MED12 ESR1
3 leiomyoma, uterine 31.5 PGR FH ESR1
4 smooth muscle tumor 31.4 PGR ESR1
5 endometriosis 30.9 PGR GNRH1 ESR1
6 leiomyosarcoma 30.7 PGR MED12 FH
7 estrogen excess 30.5 PGR ESR1
8 endometriosis of ovary 30.5 PGR ESR1
9 adenomyosis 30.5 PGR GNRH1 ESR1
10 vulvar leiomyoma 30.4 PGR ESR1
11 adenosarcoma 30.3 PGR ESR1
12 angiomyolipoma 30.2 PGR ESR1
13 myoma 30.1 PGR MED12 GNRH1 ESR1
14 glomerulonephritis 30.0 COL4A5 COL4A4 COL4A3
15 bizarre leiomyoma 29.9 PGR MED12
16 pneumothorax 29.7 PGR GNRH1
17 leiomyoma 29.2 PGR MED12 GNRH1 FH ESR1 COL4A6
18 intravenous leiomyomatosis 12.8
19 disseminated peritoneal leiomyomatosis 12.7
20 leiomyomatosis, diffuse, with alport syndrome 12.5
21 uterus intravascular leiomyomatosis 12.4
22 uterine corpus diffuse leiomyomatosis 12.4
23 uterine corpus leiomyomatosis 12.2
24 leiomyomatosis of esophagus, cataract and hematuria 12.1
25 x-linked alport syndrome-diffuse leiomyomatosis 12.1
26 leiomyoma of vulva and esophagus 11.7
27 renal cell carcinoma, papillary, 1 11.6
28 renal cell carcinoma, nonpapillary 10.8
29 kidney cancer 10.7
30 alport syndrome 10.7
31 myofibroma 10.6
32 cardiac arrest 10.5
33 benign metastasizing leiomyoma 10.5
34 syncope 10.5
35 dysphagia 10.5
36 chromophil renal cell carcinoma 10.5
37 rare tumor 10.4
38 bartholin's gland adenoma 10.4 PGR ESR1
39 vestibular gland benign neoplasm 10.4 PGR ESR1
40 lung leiomyoma 10.4 PGR ESR1
41 vulvar syringoma 10.4 PGR ESR1
42 glassy cell carcinoma of the cervix 10.4 PGR ESR1
43 trigonitis 10.4 PGR ESR1
44 vulvar benign neoplasm 10.4 PGR ESR1
45 predominantly cortical thymoma 10.4 PGR ESR1
46 breast scirrhous carcinoma 10.4 PGR ESR1
47 breast medullary carcinoma 10.4 PGR ESR1
48 oncocytic breast carcinoma 10.4 PGR ESR1
49 bartholin's gland benign neoplasm 10.4 PGR ESR1
50 progesterone-receptor positive breast cancer 10.4 PGR ESR1

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 9.92 COL4A3 COL4A4 COL4A5 ESR1 FH GNRH1
2 hematopoietic system MP:0005397 9.85 CARMIL2 COL4A5 ESR1 GNRH1 PGR SDHB
3 immune system MP:0005387 9.8 CARMIL2 COL4A3 COL4A4 COL4A5 ESR1 GNRH1
4 mortality/aging MP:0010768 9.76 COL4A3 COL4A4 COL4A5 ESR1 FH MED12
5 normal MP:0002873 9.43 COL4A6 ESR1 GNRH1 MED12 PGR SDHB
6 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 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Sirolimus Approved, Investigational Phase 4 53123-88-9 6436030 5284616 46835353
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Everolimus Approved Phase 4 159351-69-6 6442177 70789204
5 Antifungal Agents Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-Bacterial Agents Phase 4
8 Antibiotics, Antitubercular Phase 4
9 Immunosuppressive Agents Phase 4
10 Immunologic Factors Phase 4
11
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
12
Bevacizumab Approved, Investigational Phase 2 216974-75-3
13
Metformin Approved Phase 1, Phase 2 657-24-9 4091 14219
14
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
15 Guadecitabine Investigational Phase 2 929901-49-5
16 Neurotransmitter Agents Phase 2
17 abobotulinumtoxinA Phase 2
18 Cholinergic Agents Phase 2
19 Neuromuscular Agents Phase 2
20 Peripheral Nervous System Agents Phase 2
21 Acetylcholine Release Inhibitors Phase 2
22 Botulinum Toxins Phase 2
23 Botulinum Toxins, Type A Phase 2
24 Angiogenesis Inhibitors Phase 2
25 Protein Kinase Inhibitors Phase 2
26 Angiogenesis Modulating Agents Phase 2
27 Antineoplastic Agents, Immunological Phase 2
28
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
29 Hypoglycemic Agents Phase 1, Phase 2
30 Antimetabolites Phase 2
31 Antimetabolites, Antineoplastic Phase 2
32
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:

(show all 16)
# 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 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 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 Recruiting NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
6 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 Recruiting NCT03165721 Phase 2 SGI-110 (guadecitabine)
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 Alport Syndrome Treatments and Outcomes Registry Recruiting NCT00481130
15 Primary Spontaneous Pneumothorax and Different Types of Surgical Management Not yet recruiting NCT03804385
16 Establishment of a 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, Smooth Muscle, Heart, Kidney, Lung, Lymph Node, Skin

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 1413)
# Title Authors PMID Year
1
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. 9 38
20091131 2010
2
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. 9 38
20056206 2010
3
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. 9 38
20231875 2010
4
UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. 9 38
19963135 2010
5
Fumarate hydratase deficiency in renal cancer induces glycolytic addiction and hypoxia-inducible transcription factor 1alpha stabilization by glucose-dependent generation of reactive oxygen species. 9 38
19470762 2009
6
The clinical implications of the genetics of renal cell carcinoma. 9 38
19285230 2009
7
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 9 38
18616531 2008
8
Incidence, aetiology and epidemiology of uterine fibroids. 9 38
18534913 2008
9
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. 9 38
18503824 2008
10
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein. 9 38
17960613 2008
11
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability. 9 38
17520677 2007
12
Conventional renal cancer in a patient with fumarate hydratase mutation. 9 38
17270241 2007
13
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? 9 38
17418405 2007
14
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. 9 38
17613550 2007
15
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. 9 38
17392716 2007
16
Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics. 9 38
17255292 2007
17
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. 9 38
16881969 2006
18
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 9 38
16757530 2006
19
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. 9 38
16639410 2006
20
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. 9 38
16477632 2006
21
Increased risk of cancer in patients with fumarate hydratase germline mutation. 9 38
16155190 2006
22
The genetics of uterine leiomyomata: what clinicians need to know. 9 38
16582132 2006
23
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas. 9 38
15949892 2006
24
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. 9 38
16319128 2006
25
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 9 38
15937070 2006
26
Multiple giant leiomyomas of the esophagus and stomach. 9 38
17069596 2006
27
A Japanese family with Alport syndrome associated with esophageal leiomyomatosis: genetic analysis of COL4A5 to COL4A6 and immunostaining for type IV collagen subtypes. 9 38
16114791 2005
28
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 9 38
16029320 2005
29
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. 9 38
15741255 2005
30
No germline FH mutations in familial breast cancer patients. 9 38
15523491 2005
31
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]. 9 38
15924063 2005
32
Evidence of increased microvessel density and activation of the hypoxia pathway in tumours from the hereditary leiomyomatosis and renal cell cancer syndrome. 9 38
15586379 2005
33
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma. 9 38
15579028 2004
34
Estrogen and progesterone expression of vessel walls with intravascular leiomyomatosis; discussion of histogenesis. 9 38
15171320 2004
35
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. 9 38
14695314 2004
36
On the association of succinate dehydrogenase mutations with hereditary paraganglioma. 9 38
14643060 2003
37
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. 9 38
14517961 2003
38
Genetic and functional analyses of FH mutations in multiple cutaneous and uterine leiomyomatosis, hereditary leiomyomatosis and renal cancer, and fumarate hydratase deficiency. 9 38
12761039 2003
39
The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. 9 38
14708972 2003
40
Postmenopausal intravenous leiomyomatosis with high levels of estradiol and estrogen receptor. 9 38
12423831 2002
41
[Development of human renal cell carcinoma (RCC)--the responsible genes for the development of hereditary and sporadic human RCCs]. 9 38
12402420 2002
42
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 9 38
12183404 2002
43
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 9 38
11865300 2002
44
Late intracaval and intracardiac leiomyomatosis following hysterectomy for benign myomas treated by surgery and GnRH agonist. 9 38
11606110 2001
45
Luteinizing hormone receptor expression in leiomyomatosis peritonealis disseminata. 9 38
10808006 2000
46
GnRH agonist for intravenous leiomyomatosis with cardiac extension. A case report. 9 38
10554751 1999
47
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 9 38
10499074 1999
48
Progesterone receptor activity in leiomyomatosis peritonealis disseminata. 9 38
12090595 1999
49
Absence of the alpha6(IV) chain of collagen type IV in Alport syndrome is related to a failure at the protein assembly level and does not result in diffuse leiomyomatosis. 9 38
10362815 1999
50
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. 9 38
9915944 1999

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 GNRH1 COL4A6 COL4A5 COL4A4 COL4A3
2
Show member pathways
12.83 GNRH1 COL4A6 COL4A5 COL4A4 COL4A3
3
Show member pathways
12.82 MED12 ESR1 COL4A6 COL4A5 COL4A4 COL4A3
4
Show member pathways
12.78 PGR ESR1 COL4A6 COL4A5 COL4A4 COL4A3
5
Show member pathways
12.73 COL4A6 COL4A5 COL4A4 COL4A3
6
Show member pathways
12.65 COL4A6 COL4A5 COL4A4 COL4A3
7
Show member pathways
12.59 COL4A6 COL4A5 COL4A4 COL4A3
8
Show member pathways
12.51 COL4A6 COL4A5 COL4A4 COL4A3
9 12.46 FH ESR1 COL4A6 COL4A5 COL4A4 COL4A3
10
Show member pathways
12.4 COL4A6 COL4A5 COL4A4 COL4A3
11
Show member pathways
11.98 COL4A6 COL4A5 COL4A4 COL4A3
12
Show member pathways
11.95 COL4A6 COL4A5 COL4A4 COL4A3
13 11.71 COL4A6 COL4A5 COL4A4 COL4A3
14 11.68 COL4A6 COL4A5 COL4A4 COL4A3
15 11.59 COL4A6 COL4A5 COL4A4 COL4A3
16 11.57 COL4A5 COL4A4 COL4A3
17 11.24 COL4A5 COL4A4 COL4A3
18 11.24 COL4A6 COL4A5 COL4A4 COL4A3
19 10.95 COL4A6 COL4A5 COL4A4 COL4A3
20 10.81 GNRH1 COL4A6 COL4A5 COL4A4 COL4A3
21 10.53 COL4A6 COL4A5 COL4A4 COL4A3

GO Terms for Leiomyomatosis

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix GO:0031012 9.62 COL4A6 COL4A5 COL4A4 COL4A3
2 endoplasmic reticulum lumen GO:0005788 9.56 COL4A6 COL4A5 COL4A4 COL4A3
3 collagen-containing extracellular matrix GO:0062023 9.54 COL4A6 COL4A5 COL4A3
4 basement membrane GO:0005604 9.46 COL4A6 COL4A5 COL4A4 COL4A3
5 collagen trimer GO:0005581 9.26 COL4A6 COL4A5 COL4A4 COL4A3
6 collagen type IV trimer GO:0005587 8.92 COL4A6 COL4A5 COL4A4 COL4A3

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 9.5 PGR MED12 ESR1
2 tricarboxylic acid cycle GO:0006099 9.37 SDHB FH
3 extracellular matrix organization GO:0030198 9.26 COL4A6 COL4A5 COL4A4 COL4A3
4 glomerular basement membrane development GO:0032836 9.16 COL4A4 COL4A3
5 intracellular steroid hormone receptor signaling pathway GO:0030518 8.96 ESR1
6 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.8 COL4A6 COL4A5 COL4A3

Molecular functions related to Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear receptor activity GO:0004879 9.26 PGR ESR1
2 steroid binding GO:0005496 9.16 PGR ESR1
3 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.13 COL4A6 COL4A5 COL4A3
4 extracellular matrix structural constituent GO:0005201 8.92 COL4A6 COL4A5 COL4A4 COL4A3

Sources for Leiomyomatosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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