MCID: LMY003
MIFTS: 43

Leiomyomatosis

Categories: Cancer diseases

Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 12 54 43 15 71

Classifications:



External Ids:

Disease Ontology 12 DOID:5138
MeSH 43 D018231
NCIt 49 C3748
SNOMED-CT 67 75210008
UMLS 71 C0206654

Summaries for Leiomyomatosis

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

MalaCards based summary : Leiomyomatosis is related to intravenous leiomyomatosis and diffuse peritoneal leiomyomatosis. An important gene associated with Leiomyomatosis is FH (Fumarate Hydratase), and among its related pathways/superpathways are ERK Signaling and Phospholipase-C Pathway. The drugs Ethanol and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include uterus, smooth muscle and heart, and related phenotypes are Decreased sensitivity to paclitaxel and cardiovascular system

Wikipedia : 74 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 335)
# Related Disease Score Top Affiliating Genes
1 intravenous leiomyomatosis 34.8 PGR MED12 ESR1
2 diffuse peritoneal leiomyomatosis 34.7 PGR MED12 GNRH1
3 x-linked alport syndrome-diffuse leiomyomatosis 34.2 COL4A6 COL4A5
4 hereditary leiomyomatosis and renal cell cancer 34.2 SDHB NFE2L2 LDHA FH BNIP3
5 renal cell carcinoma, papillary, 1 31.5 WT1 VHL SDHB NFE2L2 KIT FH
6 leiomyoma, uterine 31.5 PGR MED12 GNRH1 FH ESR1
7 alport syndrome 31.4 COL4A6 COL4A5 COL4A4 COL4A3
8 smooth muscle tumor 31.1 PGR MED12 KIT FH ESR1
9 leiomyoma 31.1 PGR MED12 KIT GNRH1 FH ESR1
10 myoma 31.0 PGR MED12 KIT GNRH1 FH ESR1
11 endometriosis 31.0 PGR GNRH1 ESR1 CALB2
12 adenomyosis 31.0 PGR GNRH1 ESR1
13 leiomyoma cutis 30.9 MED12 FH
14 x-linked alport syndrome 30.9 COL4A6 COL4A5 COL4A4 COL4A3
15 lymphangioleiomyomatosis 30.8 PGR GNRH1 ESR1
16 fumarate hydratase deficiency 30.8 VHL FH
17 leiomyosarcoma 30.7 WT1 PGR MED12 KIT FH ESR1
18 estrogen excess 30.6 PGR GNRH1 ESR1
19 endometriosis of ovary 30.6 PGR GNRH1 ESR1
20 alport syndrome 1, x-linked 30.6 COL4A5 COL4A4
21 angiomyolipoma 30.5 PGR KIT ESR1
22 uterine sarcoma 30.5 WT1 KIT
23 gastric leiomyoma 30.5 KIT FH
24 vulvar leiomyoma 30.4 PGR ESR1
25 kidney cancer 30.4 WT1 VHL SDHB NFE2L2 FH
26 adenosarcoma 30.4 PGR KIT ESR1
27 papillary carcinoma 30.3 PGR ESR1 CALB2
28 ovarian fibrothecoma 30.3 KIT CALB2
29 bizarre leiomyoma 30.2 PGR MED12 FH ESR1
30 adenomyoma 30.2 PGR MED12 GNRH1 ESR1
31 pneumothorax 30.2 PGR NFE2L2 GNRH1 CALB2
32 bilateral breast cancer 30.1 SDHB PGR ESR1
33 benign mesothelioma 30.0 WT1 CALB2
34 endosalpingiosis 30.0 WT1 PGR CALB2
35 cryptorchidism, unilateral or bilateral 29.9 WT1 KIT GNRH1 ESR1
36 renal cell carcinoma, nonpapillary 29.8 WT1 VHL SDHB LDHA KIT FH
37 gastrointestinal stromal tumor 29.8 WT1 SDHB KIT ABL1
38 paraganglioma 29.7 VHL SDHB KIT FH
39 cystadenoma 29.4 VHL PGR KIT FH CALB2
40 pheochromocytoma 29.0 VHL SDHB KIT FH ESR1 CALB2
41 leiomyomatosis, diffuse, with alport syndrome 12.5
42 uterus intravascular leiomyomatosis 12.4
43 uterine corpus diffuse leiomyomatosis 12.4
44 uterine corpus leiomyomatosis 12.2
45 leiomyomatosis of esophagus, cataract and hematuria 12.1
46 leiomyoma of vulva and esophagus 11.7
47 fh tumor predisposition syndrome 11.7
48 myofibroma 10.6
49 glassy cell carcinoma of the cervix 10.6 PGR ESR1
50 bartholin's gland adenoid cystic carcinoma 10.6 PGR ESR1

Graphical network of the top 20 diseases related to Leiomyomatosis:



Diseases related to Leiomyomatosis

Symptoms & Phenotypes for Leiomyomatosis

GenomeRNAi Phenotypes related to Leiomyomatosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased sensitivity to paclitaxel GR00112-A-0 8.32 WT1

MGI Mouse Phenotypes related to Leiomyomatosis:

45 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.34 ABL1 BNIP3 COL4A3 COL4A5 ESR1 KIT
2 homeostasis/metabolism MP:0005376 10.31 ABL1 BNIP3 COL4A3 COL4A4 COL4A5 ESR1
3 hematopoietic system MP:0005397 10.28 ABL1 BNIP3 CARMIL2 COL4A5 ESR1 GNRH1
4 cellular MP:0005384 10.25 ABL1 BNIP3 COL4A3 ESR1 FH KIT
5 growth/size/body region MP:0005378 10.23 ABL1 COL4A3 COL4A4 ESR1 GNRH1 KIT
6 immune system MP:0005387 10.21 ABL1 CARMIL2 COL4A3 COL4A4 COL4A5 ESR1
7 embryo MP:0005380 10.15 ABL1 ESR1 KIT MED12 NFE2L2 PGR
8 endocrine/exocrine gland MP:0005379 10.13 ABL1 CARMIL2 ESR1 GNRH1 KIT PGR
9 mortality/aging MP:0010768 10.13 ABL1 COL4A3 COL4A4 COL4A5 ESR1 FH
10 liver/biliary system MP:0005370 9.97 ABL1 ESR1 GNRH1 KIT LDHA NFE2L2
11 neoplasm MP:0002006 9.81 ESR1 GNRH1 KIT LDHA NFE2L2 PGR
12 normal MP:0002873 9.77 ABL1 CALB2 COL4A6 ESR1 GNRH1 KIT
13 renal/urinary system MP:0005367 9.36 COL4A3 COL4A4 COL4A5 ESR1 FH GNRH1

Drugs & Therapeutics for Leiomyomatosis

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4 64-17-5 702
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030 46835353
5 Immunologic Factors Phase 4
6 Anti-Infective Agents Phase 4
7 Immunosuppressive Agents Phase 4
8 Anti-Bacterial Agents Phase 4
9 Antifungal Agents Phase 4
10 Antibiotics, Antitubercular Phase 4
11
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
12
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
13
Bevacizumab Approved, Investigational Phase 2 216974-75-3
14 Guadecitabine Investigational Phase 2 929901-49-5
15 Hypoglycemic Agents Phase 1, Phase 2
16 abobotulinumtoxinA Phase 2
17 Cholinergic Agents Phase 2
18 Botulinum Toxins Phase 2
19 Botulinum Toxins, Type A Phase 2
20 Neurotransmitter Agents Phase 2
21
Erlotinib Hydrochloride Phase 2 183319-69-9 176871
22 Protein Kinase Inhibitors Phase 2
23 Angiogenesis Inhibitors Phase 2
24 Antineoplastic Agents, Immunological Phase 2
25
Progesterone Approved, Vet_approved 57-83-0 5994

Interventional clinical trials:

(show all 15)
# 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 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 Completed NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
4 Randomized Pilot Study for the Treatment of Cutaneous Leiomyomas With Botulinum Toxin Completed NCT00971620 Phase 2
5 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 Completed NCT03165721 Phase 2 SGI-110 (guadecitabine)
6 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
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 Primary Spontaneous Pneumothorax and Different Types of Surgical Management Not yet recruiting NCT03804385
15 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:

40
Uterus, Smooth Muscle, Heart, Kidney, Lung, Lymph Node, Skin

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 1491)
# Title Authors PMID Year
1
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. 54 61
20091131 2010
2
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. 54 61
20056206 2010
3
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. 61 54
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. 61 54
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. 54 61
19470762 2009
6
The clinical implications of the genetics of renal cell carcinoma. 61 54
19285230 2009
7
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 54 61
18616531 2008
8
Incidence, aetiology and epidemiology of uterine fibroids. 54 61
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. 54 61
18503824 2008
10
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein. 61 54
17960613 2008
11
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability. 54 61
17520677 2007
12
Conventional renal cancer in a patient with fumarate hydratase mutation. 54 61
17270241 2007
13
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? 61 54
17418405 2007
14
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. 54 61
17392716 2007
15
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. 61 54
17613550 2007
16
Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics. 61 54
17255292 2007
17
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. 61 54
16881969 2006
18
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 61 54
16757530 2006
19
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. 54 61
16639410 2006
20
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. 54 61
16477632 2006
21
Increased risk of cancer in patients with fumarate hydratase germline mutation. 61 54
16155190 2006
22
The genetics of uterine leiomyomata: what clinicians need to know. 61 54
16582132 2006
23
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas. 61 54
15949892 2006
24
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. 61 54
16319128 2006
25
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 61 54
15937070 2006
26
Multiple giant leiomyomas of the esophagus and stomach. 61 54
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. 61 54
16114791 2005
28
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 61 54
16029320 2005
29
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. 61 54
15741255 2005
30
No germline FH mutations in familial breast cancer patients. 61 54
15523491 2005
31
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]. 54 61
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. 61 54
15586379 2005
33
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma. 61 54
15579028 2004
34
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. 54 61
14695314 2004
35
Estrogen and progesterone expression of vessel walls with intravascular leiomyomatosis; discussion of histogenesis. 61 54
15171320 2004
36
On the association of succinate dehydrogenase mutations with hereditary paraganglioma. 61 54
14643060 2003
37
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. 54 61
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. 61 54
12761039 2003
39
The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. 61 54
14708972 2003
40
Postmenopausal intravenous leiomyomatosis with high levels of estradiol and estrogen receptor. 54 61
12423831 2002
41
[Development of human renal cell carcinoma (RCC)--the responsible genes for the development of hereditary and sporadic human RCCs]. 54 61
12402420 2002
42
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 61 54
12183404 2002
43
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 54 61
11865300 2002
44
Late intracaval and intracardiac leiomyomatosis following hysterectomy for benign myomas treated by surgery and GnRH agonist. 61 54
11606110 2001
45
Luteinizing hormone receptor expression in leiomyomatosis peritonealis disseminata. 54 61
10808006 2000
46
GnRH agonist for intravenous leiomyomatosis with cardiac extension. A case report. 54 61
10554751 1999
47
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 54 61
10499074 1999
48
Progesterone receptor activity in leiomyomatosis peritonealis disseminata. 54 61
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. 61 54
10362815 1999
50
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. 61 54
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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.68 VHL KIT GNRH1 ESR1 COL4A6 COL4A5
2
Show member pathways
12.91 KIT GNRH1 COL4A6 COL4A5 COL4A4 COL4A3
3
Show member pathways
12.89 MED12 ESR1 COL4A6 COL4A5 COL4A4 COL4A3
4
Show member pathways
12.44 PGR ESR1 COL4A6 COL4A5 COL4A4 COL4A3
5
Show member pathways
12.42 COL4A6 COL4A5 COL4A4 COL4A3
6 12.05 VHL NFE2L2 KIT FH ESR1 COL4A6
7
Show member pathways
12 COL4A6 COL4A5 COL4A4 COL4A3
8 11.77 COL4A6 COL4A5 COL4A4 COL4A3
9 11.73 COL4A6 COL4A5 COL4A4 COL4A3
10 11.67 COL4A6 COL4A5 COL4A4 COL4A3
11 11.52 WT1 ESR1 ABL1
12 11.49 WT1 COL4A5 COL4A4 COL4A3
13 11.34 COL4A6 COL4A5 COL4A4 COL4A3
14 11.24 COL4A5 COL4A4 COL4A3
15 11.15 COL4A6 COL4A5 COL4A4 COL4A3
16 10.86 KIT GNRH1 COL4A6 COL4A5 COL4A4 COL4A3
17 10.86 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 endoplasmic reticulum lumen GO:0005788 9.62 COL4A6 COL4A5 COL4A4 COL4A3
2 extracellular matrix GO:0031012 9.56 COL4A6 COL4A5 COL4A4 COL4A3
3 basement membrane GO:0005604 9.46 COL4A6 COL4A5 COL4A4 COL4A3
4 collagen trimer GO:0005581 9.26 COL4A6 COL4A5 COL4A4 COL4A3
5 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 extracellular matrix organization GO:0030198 9.56 COL4A6 COL4A5 COL4A4 COL4A3
2 male gonad development GO:0008584 9.54 WT1 KIT ESR1
3 cellular response to hydrogen peroxide GO:0070301 9.33 NFE2L2 BNIP3 ABL1
4 positive regulation of phospholipase C activity GO:0010863 9.32 KIT ESR1
5 glomerular basement membrane development GO:0032836 9.13 WT1 COL4A4 COL4A3
6 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 8.92 COL4A6 COL4A5 COL4A4 COL4A3

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 9.26 COL4A6 COL4A5 COL4A4 COL4A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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