MCID: LMY003
MIFTS: 42

Leiomyomatosis

Categories: Cancer diseases
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Aliases & Classifications for Leiomyomatosis

MalaCards integrated aliases for Leiomyomatosis:

Name: Leiomyomatosis 11 53 43 14 71 75

Classifications:



External Ids:

Disease Ontology 11 DOID:5138
MeSH 43 D018231
NCIt 49 C3748
SNOMED-CT 68 1157154004
UMLS 71 C0206654

Summaries for Leiomyomatosis

Disease Ontology: 11 A leiomyoma that is multiple and diffuse.

MalaCards based summary: Leiomyomatosis is related to hereditary leiomyomatosis and renal cell cancer and intravenous leiomyomatosis. An important gene associated with Leiomyomatosis is COL4A6 (Collagen Type IV Alpha 6 Chain), and among its related pathways/superpathways are Signal Transduction and RNA Polymerase II Transcription Initiation And Promoter Clearance. The drugs Ethanol and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle, uterus and kidney, and related phenotypes are homeostasis/metabolism and normal

Wikipedia: 75 A leiomyoma, also known as a fibroid, 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 371)
# Related Disease Score Top Affiliating Genes
1 hereditary leiomyomatosis and renal cell cancer 33.0 SDHB FH BNIP3
2 intravenous leiomyomatosis 32.8 PGR MED12 ESR1 COL4A6
3 diffuse peritoneal leiomyomatosis 32.8 PGR MED12 GNRH1 ESR1
4 x-linked alport syndrome-diffuse leiomyomatosis 32.2 COL4A6 COL4A5
5 leiomyoma, uterine 31.5 PGR GNRH1 FH ESR1
6 renal cell carcinoma, papillary, 1 31.4 VHL SDHB NFE2L2 FH
7 alport syndrome 31.1 COL4A6 COL4A5 COL4A4 COL4A3
8 leiomyoma 31.1 PGR MED12 GNRH1 FH ESR1 DES
9 myoma 31.0 PGR MED12 GNRH1 FH ESR1 ACTC1
10 fumarate hydratase deficiency 31.0 VHL FH
11 smooth muscle tumor 31.0 PGR MED12 ESR1 DES ACTC1
12 leiomyosarcoma 30.9 PGR MED12 FH ESR1 DES ACTC1
13 x-linked alport syndrome 30.6 COL4A6 COL4A5 COL4A4 COL4A3
14 ovarian cyst 30.5 PGR GNRH1 ESR1
15 lymphangioleiomyomatosis 30.5 PGR GNRH1 ESR1 DES
16 uterus leiomyosarcoma 30.5 PGR FH DES ACTC1
17 cellular leiomyoma 30.5 PGR MED12
18 uterine sarcoma 30.5 ESR1 DES
19 leiomyoma cutis 30.4 SDHB MED12 FH COL4A6
20 endometrial stromal sarcoma 30.4 PGR MED12 ESR1 DES ACTC1
21 fibroma 30.3 PGR ESR1 DES ACTC1
22 sensorineural hearing loss 30.3 GNRH1 COL4A6 COL4A5 COL4A4 COL4A3
23 estrogen excess 30.2 PGR GNRH1 ESR1
24 endometriosis of ovary 30.2 PGR GNRH1 ESR1
25 bizarre leiomyoma 30.1 PGR MED12 FH ESR1
26 angiomyolipoma 30.1 PGR ESR1 DES ACTC1
27 vulvar leiomyoma 30.0 PGR ESR1
28 adenosarcoma 30.0 PGR ESR1 DES
29 gastrointestinal stromal tumor 30.0 SDHB FH ESR1 DES ACTC1 ABL1
30 infantile myofibromatosis 29.9 DES CARMIL2 ACTC1
31 pneumothorax 29.9 PGR NFE2L2 GNRH1 DES ACTC1
32 adenomyoma 29.8 PGR MED12 GNRH1 ESR1
33 paraganglioma 29.6 VHL SDHB NFE2L2 FH
34 hereditary renal cell carcinoma 29.6 VHL SDHB FH
35 hemangioma 29.6 VHL PGR ESR1 ACTC1
36 pheochromocytoma 29.5 VHL SDHB NFE2L2 FH ESR1 BNIP3
37 von hippel-lindau syndrome 29.4 VHL SDHB FH
38 leiomyomatosis, diffuse, with alport syndrome 11.4
39 fh tumor predisposition syndrome 11.3
40 uterus intravascular leiomyomatosis 11.3
41 uterine corpus diffuse leiomyomatosis 11.3
42 leiomyoma of vulva and esophagus 11.2
43 uterine corpus leiomyomatosis 11.1
44 leiomyomatosis of esophagus, cataract and hematuria 10.9
45 renal cell carcinoma, nonpapillary 10.8
46 collecting duct carcinoma 10.7
47 kidney cancer 10.6
48 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
49 bap1 tumor predisposition syndrome 10.6
50 inherited cancer-predisposing syndrome 10.6

Graphical network of the top 20 diseases related to Leiomyomatosis:



Diseases related to Leiomyomatosis

Symptoms & Phenotypes for Leiomyomatosis

MGI Mouse Phenotypes related to Leiomyomatosis:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ABL1 ACTC1 BNIP3 CARMIL2 COL4A3 COL4A4
2 normal MP:0002873 10.22 ABL1 ACTC1 COL4A6 ESR1 GNRH1 LDHA
3 growth/size/body region MP:0005378 10.18 ABL1 ACTC1 COL4A3 COL4A4 COL4A5 ESR1
4 renal/urinary system MP:0005367 10.16 COL4A3 COL4A4 COL4A5 ESR1 FH GNRH1
5 cellular MP:0005384 10.13 ABL1 ACTC1 BNIP3 COL4A3 DES ESR1
6 cardiovascular system MP:0005385 10.1 ABL1 ACTC1 BNIP3 COL4A3 COL4A5 DES
7 neoplasm MP:0002006 10.04 ESR1 GNRH1 LDHA NFE2L2 PGR SDHB
8 liver/biliary system MP:0005370 10.03 ABL1 ESR1 GNRH1 LDHA LHCGR NFE2L2
9 immune system MP:0005387 10 ABL1 CARMIL2 COL4A3 COL4A4 COL4A5 ESR1
10 hematopoietic system MP:0005397 9.86 ABL1 ACTC1 BNIP3 CARMIL2 COL4A3 COL4A4
11 mortality/aging MP:0010768 9.5 ABL1 ACTC1 COL4A3 COL4A4 COL4A5 DES

Drugs & Therapeutics for Leiomyomatosis

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

(show all 43)
# 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 5284616 6436030
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
5 Anti-Infective Agents Phase 4
6 Immunologic Factors Phase 4
7 Anti-Bacterial Agents Phase 4
8 Antifungal Agents Phase 4
9 Antibiotics, Antitubercular Phase 4
10 Immunosuppressive Agents Phase 4
11
Acetylcholine Approved, Investigational Phase 2 51-84-3 187
12
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
13
Atezolizumab Approved, Investigational Phase 2 1380723-44-3
14
Sodium fluoride Approved Phase 2 7681-49-4
15
Erlotinib Approved, Investigational Phase 2 183319-69-9, 183321-74-6 176870
16
Bevacizumab Approved, Investigational Phase 2 216974-75-3 135329020
17
Metformin Approved Phase 1, Phase 2 1115-70-4, 657-24-9 4091
18 Neurotransmitter Agents Phase 2
19
abobotulinumtoxinA Phase 2
20 Botulinum Toxins, Type A Phase 2
21 Botulinum Toxins Phase 2
22 Cholinergic Agents Phase 2
23 Alkylating Agents Phase 2
24 Antineoplastic Agents, Alkylating Phase 2
25 Poly(ADP-ribose) Polymerase Inhibitors Phase 2
26 Immunoglobulins, Intravenous Phase 2
27 Listerine Phase 2
28 Immunoglobulins Phase 2
29 Immunoglobulin G Phase 2
30 Fluorides Phase 2
31 Antibodies, Monoclonal Phase 2
32 Antibodies Phase 2
33 Anti-Infective Agents, Local Phase 2
34 Protective Agents Phase 2
35 Endothelial Growth Factors Phase 2
36 Mitogens Phase 2
37 Angiogenesis Inhibitors Phase 2
38 Antineoplastic Agents, Immunological Phase 2
39 Protein Kinase Inhibitors Phase 2
40 Hypoglycemic Agents Phase 1, Phase 2
41
Progesterone Approved, Vet_approved 57-83-0 5994
42
L-Glutamine Approved, Investigational, Nutraceutical 56-85-9 5961
43 Pharmaceutical Solutions

Interventional clinical trials:

(show all 14)
# 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 2 Study of Pamiparib (BGB-290) Plus Temozolomide for Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Recruiting NCT04603365 Phase 2 Pamiparib;Temozolomide
5 A Phase 2 Study of Bevacizumab, Erlotinib and Atezolizumab in Subjects With Advanced Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) Associated or Sporadic Papillary Renal Cell Cancer Recruiting NCT04981509 Phase 2 Erlotinib;Sodium Fluoride F-18
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 Active, not recruiting NCT01130519 Phase 2 Bevacizumab;Erlotinib
7 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 Terminated NCT02495103 Phase 1, Phase 2 Vandetanib;Metformin;Vandetanib/Metformin
8 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
9 French National Registry of Rare Peritoneal Surface Malignancies (RENAPE Registry) Unknown status NCT02834169
10 Surgical Management of Intravenous Leiomyomatosis With Intracardiac Extension: Our Experience and Outcomes Completed NCT01707862
11 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00001869
12 Hereditary Leiomyomatosis Renal Cell Cancer (HLRCC): Identification of the Disease Gene, and Characterization of the Predisposition to Renal Cancer Recruiting NCT00050752
13 MyVHL: Patient Natural History Study Recruiting NCT03749980
14 An Investigation of Kidney and Urothelial Tumor Metabolism in Patients Undergoing Surgical Resection and/or Biopsy Recruiting NCT04623502

Search NIH Clinical Center for Leiomyomatosis

Cochrane evidence based reviews: leiomyomatosis

Genetic Tests for Leiomyomatosis

Anatomical Context for Leiomyomatosis

Organs/tissues related to Leiomyomatosis:

MalaCards : Smooth Muscle, Uterus, Kidney, Endothelial, Heart, Lymph Node, Small Intestine

Publications for Leiomyomatosis

Articles related to Leiomyomatosis:

(show top 50) (show all 1701)
# Title Authors PMID Year
1
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome. 53 62
20091131 2010
2
Male infertility associated with hereditary leiomyomatosis and renal cell carcinoma. 53 62
20056206 2010
3
Fumarase: a mitochondrial metabolic enzyme and a cytosolic/nuclear component of the DNA damage response. 53 62
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. 53 62
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. 53 62
19470762 2009
6
The clinical implications of the genetics of renal cell carcinoma. 53 62
19285230 2009
7
MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome. 53 62
18616531 2008
8
Incidence, aetiology and epidemiology of uterine fibroids. 53 62
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. 53 62
18503824 2008
10
A cancer-predisposing "hot spot" mutation of the fumarase gene creates a dominant negative protein. 53 62
17960613 2008
11
Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability. 53 62
17520677 2007
12
Conventional renal cancer in a patient with fumarate hydratase mutation. 53 62
17270241 2007
13
Fumarate hydratase deficiency and cancer: activation of hypoxia signaling? 53 62
17418405 2007
14
Genetic heterogeneity among uterine leiomyomata: insights into malignant progression. 53 62
17613550 2007
15
Hereditary leiomyomatosis and renal cell cancer: an unusual and aggressive form of hereditary renal carcinoma. 53 62
17392716 2007
16
Identification of the genes for kidney cancer: opportunity for disease-specific targeted therapeutics. 53 62
17255292 2007
17
Diffuse and segmental variants of cutaneous leiomyomatosis: novel mutations in the fumarate hydratase gene and review of the literature. 53 62
16881969 2006
18
Adult leydig cell tumors of the testis caused by germline fumarate hydratase mutations. 53 62
16757530 2006
19
Germline fumarate hydratase mutations in patients with ovarian mucinous cystadenoma. 53 62
16639410 2006
20
Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients. 53 62
16477632 2006
21
Increased risk of cancer in patients with fumarate hydratase germline mutation. 53 62
16155190 2006
22
The genetics of uterine leiomyomata: what clinicians need to know. 53 62
16582132 2006
23
No evidence for epigenetic inactivation of fumarate hydratase in leiomyomas and leiomyosarcomas. 53 62
15949892 2006
24
Distinct expression profile in fumarate-hydratase-deficient uterine fibroids. 53 62
16319128 2006
25
Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer. 53 62
15937070 2006
26
Multiple giant leiomyomas of the esophagus and stomach. 53 62
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. 53 62
16114791 2005
28
Fumarate hydratase mutations and predisposition to cutaneous leiomyomas, uterine leiomyomas and renal cancer. 53 62
16029320 2005
29
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. 53 62
15741255 2005
30
No germline FH mutations in familial breast cancer patients. 53 62
15523491 2005
31
[Mutations in fumarate hydratase during cutaneous and uterine leiomyomatosis associated with renal cancer]. 53 62
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. 53 62
15586379 2005
33
The Eker rat: establishing a genetic paradigm linking renal cell carcinoma and uterine leiomyoma. 53 62
15579028 2004
34
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors. 53 62
14695314 2004
35
Estrogen and progesterone expression of vessel walls with intravascular leiomyomatosis; discussion of histogenesis. 53 62
15171320 2004
36
On the association of succinate dehydrogenase mutations with hereditary paraganglioma. 53 62
14643060 2003
37
Deletion mapping in Alport syndrome and Alport syndrome-diffuse leiomyomatosis reveals potential mechanisms of visceral smooth muscle overgrowth. 53 62
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. 53 62
12761039 2003
39
The TCA cycle and tumorigenesis: the examples of fumarate hydratase and succinate dehydrogenase. 53 62
14708972 2003
40
Postmenopausal intravenous leiomyomatosis with high levels of estradiol and estrogen receptor. 53 62
12423831 2002
41
[Development of human renal cell carcinoma (RCC)--the responsible genes for the development of hereditary and sporadic human RCCs]. 53 62
12402420 2002
42
Few FH mutations in sporadic counterparts of tumor types observed in hereditary leiomyomatosis and renal cell cancer families. 53 62
12183404 2002
43
Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer. 53 62
11865300 2002
44
Late intracaval and intracardiac leiomyomatosis following hysterectomy for benign myomas treated by surgery and GnRH agonist. 53 62
11606110 2001
45
Luteinizing hormone receptor expression in leiomyomatosis peritonealis disseminata. 53 62
10808006 2000
46
GnRH agonist for intravenous leiomyomatosis with cardiac extension. A case report. 53 62
10554751 1999
47
Alport syndrome. An inherited disorder of renal, ocular, and cochlear basement membranes. 53 62
10499074 1999
48
Progesterone receptor activity in leiomyomatosis peritonealis disseminata. 53 62
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. 53 62
10362815 1999
50
LINE-1 elements at the sites of molecular rearrangements in Alport syndrome-diffuse leiomyomatosis. 53 62
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 22)
# Super pathways Score Top Affiliating Genes
1 13.31 VHL PTPN12 PGR LHCGR GNRH1 ESR1
2
Show member pathways
12.86 COL4A3 COL4A4 COL4A5 COL4A6 ESR1 MED12
3 12.6 PTPN12 PGR ESR1 COL4A5 COL4A4 COL4A3
4 12.55 COL4A6 COL4A5 COL4A4 COL4A3 ACTC1
5
Show member pathways
12.32 COL4A6 COL4A5 COL4A4 COL4A3 ACTC1
6
Show member pathways
12.03 COL4A6 COL4A5 COL4A4 COL4A3
7
Show member pathways
12.02 COL4A6 COL4A5 COL4A4 COL4A3
8 11.98 COL4A6 COL4A5 COL4A4 COL4A3
9
Show member pathways
11.81 SDHB LDHA FH
10
Show member pathways
11.79 COL4A5 COL4A4 COL4A3
11 11.6 COL4A6 COL4A5 COL4A4 COL4A3
12 11.59 COL4A5 COL4A4 COL4A3
13
Show member pathways
11.5 COL4A3 COL4A4 COL4A5 PTPN12
14 11.38 COL4A5 COL4A4 COL4A3
15 11.26 FH LDHA SDHB
16 11.04 COL4A6 COL4A5 COL4A4 COL4A3
17 10.88 PGR ESR1
18 10.81 GNRH1 DES COL4A6 COL4A5 COL4A4 COL4A3
19 10.7 PGR ESR1
20 10.66 LDHA FH
21 10.65 LHCGR GNRH1
22 10.61 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 basement membrane GO:0005604 9.7 COL4A6 COL4A5 COL4A4 COL4A3
2 collagen trimer GO:0005581 9.26 COL4A6 COL4A5 COL4A4 COL4A3
3 collagen type IV trimer GO:0005587 9.23 COL4A6 COL4A5 COL4A4 COL4A3

Biological processes related to Leiomyomatosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular response to hydrogen peroxide GO:0070301 9.63 NFE2L2 BNIP3 ABL1
2 extracellular matrix organization GO:0030198 9.56 COL4A6 COL4A5 COL4A4 COL4A3
3 collagen-activated tyrosine kinase receptor signaling pathway GO:0038063 9.1 COL4A6 COL4A5 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 9.56 COL4A6 COL4A5 COL4A4 COL4A3
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 9.23 COL4A6 COL4A5 COL4A4 COL4A3

Sources for Leiomyomatosis

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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