MCID: LMY003
MIFTS: 49

Leiomyomatosis malady

Summaries for Leiomyomatosis

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63Wikipedia, 32MalaCards
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Wikipedia:63 A leiomyoma (plural leiomyomas or leiomyomata) (leio- + myo- + -oma, \"smooth-muscle tumor\") is a... more...

MalaCards: Leiomyomatosis, also known as leiomyomatosis, no icd-o subtype, is related to hereditary leiomyomatosis and renal cell cancer and alport syndrome. An important gene associated with Leiomyomatosis is COL4A6 (collagen, type IV, alpha 6), and among its related pathways are Anchoring fibril formation and Glycoprotein hormones. The compounds estrogen and procollagen have been mentioned in the context of this disorder. Affiliated tissues include uterus, smooth muscle and heart, and related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Leiomyomatosis

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8Disease Ontology, 10DISEASES, 44Novoseek, 60UMLS, 39NCIt, 56SNOMED-CT, 34MeSH
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Aliases & Descriptions:

leiomyomatosis 8 10 44 60
leiomyomatosis, no icd-o subtype 8


External Ids:

Disease Ontology8 DOID:5138
NCIt39 C3748
SNOMED-CT56 75210008
MeSH34 D018231

Related Diseases for Leiomyomatosis

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17GeneCards, 18GeneDecks
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Diseases related to Leiomyomatosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 145)
idRelated DiseaseScoreTop Affiliating Genes
1hereditary leiomyomatosis and renal cell cancer31.1FH, SDHB
2alport syndrome30.9COL4A5, COL4A6
3leiomyoma30.8COL4A5, COL4A6, GNRH1, FH, IVL, DES
4endometriosis30.5ESR1, ACTC1, PGR, ITGA5, GNRH1
5myoma30.3ESR1, PGR, FH, GNRH1
6fumarate hydratase deficiency30.2FH
7leiomyosarcoma30.2FH, DES, PGR, ACTC1
8sarcoma30.1ACTC1, DES
9uterine fibroid30.1GNRH1, FH, IVL, PGR, ESR1
10tuberous sclerosis30.0VHL
11endometrial stromal sarcoma30.0DES, PGR, ACTC1, ESR1
12kidney cancer30.0VHL, FH, THBS1, ACTC1, SDHB
13adenocarcinoma30.0BNIP3, VHL, IVL, PGR, THBS1, ACTC1
14cystadenoma29.7VHL
15male infertility29.7GNRH1
16cataract29.7COL4A5, COL4A6
17neurofibromatosis29.7VHL, SDHB
18lymphangioleiomyomatosis29.7ESR1, PGR, DES
19infertility29.7LHCGR, GNRH1, PRND, ESR1
20papillary carcinoma29.7PGR, THBS1, ACTC1, ESR1
21endometrial carcinoma29.7GNRH1, PGR, THBS1, ESR1
22adenoma29.7LHCGR, VHL, GNRH1, THBS1, ACTC1
23ovarian cancer29.7ESR1, THBS1, PGR, GNRH1, VHL
24intravenous leiomyomatosis11.0
25esophagitis10.6
26peritonitis10.6
27hereditary renal cell carcinoma10.4
28renal cell carcinoma10.4
29leiomyomatosis, esophageal and vulval, with nephropathy10.3
30diffuse peritoneal leiomyomatosis10.3
31pulmonary embolism10.2
32disseminated peritoneal leiomyomatosis10.2
33uterus intravascular leiomyomatosis10.2
34uterine corpus leiomyomatosis10.1
35achalasia10.0
36uterine corpus diffuse leiomyomatosis10.0
37cell type cancer10.0
38severe combined immunodeficiency10.0
39leiomyoma of vulva and esophagus10.0
40leiomyomatosis of esophagus, cataract and hematuria10.0
41angiosarcoma10.0ACTC1
42carney triad10.0SDHB
43infantile myofibromatosis10.0DES
44prostatic hypertrophy10.0GNRH1
45fasciitis10.0ACTC1
46sertoli-leydig cell tumor10.0PGR
47alzheimer's disease10.0PRND
48desmoid tumor10.0DES, ACTC1
49lipoma10.0DES
50leydig cell tumor10.0GNRH1, LHCGR

Graphical network of the top 20 diseases related to Leiomyomatosis:



Diseases related to leiomyomatosis

Clinical Features for Leiomyomatosis

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Drugs & Therapeutics for Leiomyomatosis

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Leiomyomatosis

Drug clinical trials:

Search ClinicalTrials for Leiomyomatosis

Search NIH Clinical Center for Leiomyomatosis

Search CenterWatch for Leiomyomatosis

Genetic Tests for Leiomyomatosis

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Anatomical Context for Leiomyomatosis

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32MalaCards
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MalaCards organs/tissues related to Leiomyomatosis:

32
Uterus, Smooth muscle, Heart, Kidney, Lymph node, Colon, Small intestine, Bone, Lung, Ovary, Pituitary, T cells, Breast, Adipocyte, Bone marrow, Trachea

Animal Models for Leiomyomatosis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Leiomyomatosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.5THBS1, ESR1, FH, GNRH1, LHCGR, COL4A5
2MP:00020069.3PGR, ESR1, LDHA, THBS1, VHL, GNRH1
3MP:00053699.2BNIP3, VHL, DES, PGR, THBS1, ACTC1
4MP:00028739.0GNRH1, ITGA5, IVL, PGR, LDHA, VHL
5MP:00053978.9ESR1, THBS1, PGR, GNRH1, VHL, LHCGR
6MP:00053858.8LDHA, COL4A5, BNIP3, VHL, ITGA5, DES
7MP:00053878.5COL4A5, LHCGR, VHL, GNRH1, PRND, PGR
8MP:00053768.5LDHA, ESR1, ACTC1, THBS1, PGR, DES
9MP:00107688.4DES, LDHA, ESR1, ACTC1, COL4A5, VHL

Publications for Leiomyomatosis

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50PubMed
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Articles related to Leiomyomatosis:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Management of intravascular leiomyomatosis: laparoscopic surgery for ordinary uterine fibroids led to an extraordinary finding. (23454251)
2013
2
Intravenous leiomyomatosis extending to the heart : A multimodality imaging approach. (23861128)
2013
3
An unusual cause of pseudoachalasia: the Alport syndrome-diffuse leiomyomatosis association. (23765124)
2013
4
Infrarenal transcaval extraction of intracardiac leiomyomatosis. (23380551)
2013
5
Intracardiac leiomyomatosis: a comprehensive analysis of 194 cases. (23563052)
2013
6
Cutaneous leiomyomatosis in a mother and daughter>. (24346898)
2013
7
Intravenous leiomyomatosis of the uterus with extension to the right heart. (21943238)
2011
8
AIRP best cases in radiologic-pathologic correlation: intravenous leiomyomatosis. (21768238)
2011
9
What is your diagnosis? Multiple cutaneous and uterine leiomyomatosis (Reed Syndrome). (21416770)
2011
10
A case of diffuse uterine leiomyomatosis who had two successful pregnancies after medical management. (21549364)
2011
11
Intravenous leiomyomatosis with intracardiac extension: first reported case in Australia. (19423390)
2010
12
Intravenous leiomyomatosis with intracardiac extension. (20417800)
2010
13
Intravenous leiomyomatosis of the uterus. (20164011)
2010
14
Magnetic resonance imaging is useful for diagnosis and evaluation of recurrent intravenous leiomyomatosis before surgery. (19131056)
2009
15
The classification and surgical strategy of intracardiac leiomyomatosis. (19656751)
2009
16
Leiomyomatosis peritonealis disseminata and subcutaneous myoma--a rare complication of laparoscopic myomectomy. (18311496)
2009
17
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer. (18503824)
2008
18
Parasitic peritoneal leiomyomatosis diagnosed 6 years after laparoscopic myomectomy with electric tissue morcellation: report of a case and review of the literature. (17980343)
2007
19
Diffuse uterine leiomyomatosis with uterine rupture and benign metastatic lesions of the bone. (17267884)
2007
20
Hereditary leiomyomatosis and renal cell cancer: a syndrome associated with an aggressive form of inherited renal cancer. (17509289)
2007
21
Leiomyomatosis peritonealis disseminata presenting with intravascular extension and coexisting with endometriosis: a case report. (17583244)
2007
22
Novel mutation in a fumalate hydratase gene of a Japanese patient with multiple cutaneous and uterine leiomyomatosis. (17768033)
2007
23
Intravenous uterine leiomyomatosis with right heart extension: successful two-stage surgical removal. (16583249)
2006
24
Leiomyomatosis peritonealis disseminata: immunohistochemical profile and origin]. (17127852)
2006
25
Cutaneous leiomyomas: a clinical marker of risk for hereditary leiomyomatosis and renal cell cancer. (16948378)
2006
26
Intravenous leiomyomatosis: two cases with different routes of tumor extension. (14743155)
2004
27
Leiomyomatosis of the oesophagus. (15269632)
2004
28
Esophageal leiomyomatosis. (14586279)
2003
29
Leiomyomatosis peritonealis disseminata with malignant change in a man. (12608900)
2003
30
Metastatic skeletal leiomyomatosis (leiomyomatosis ossea). (11807590)
2002
31
Intracardiac leiomyomatosis. Case report and literature review. (11205711)
2001
32
Type 2 segmental cutaneous leiomyomatosis. (11800159)
2001
33
Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia. (14601910)
2000
34
Intracardiac extension of intravenous leiomyomatosis in a pregnant woman: A case report and review of the literature. (10653936)
2000
35
Imaging of diffuse esophageal leiomyomatosis: two case reports and review of the literature. (10663730)
2000
36
Alport syndrome with diffuse leiomyomatosis. When and when not? (10362786)
1999
37
Diffuse leiomyomatosis associated with X-linked Alport syndrome: extracellular matrix study using immunohistochemistry and in situ hybridization. (9042160)
1997
38
Leiomyomatosis peritonealis disseminata (LPD) with acute ascites induced by gonadotropin-releasing hormone (GnRH) agonist: a case report. (9041767)
1996
39
Case report: intravenous leiomyomatosis, an unusual cause of intracardiac filling defect. (7867263)
1995
40
Intravenous leiomyomatosis of the uterus. (8013696)
1994
41
Recurrent leiomyomatosis peritonealis disseminata. (7907050)
1993
42
Leiomyomatosis peritonealis disseminata treated with a gonadotropin-releasing hormone agonist. A case report. (1497063)
1992
43
Disseminated peritoneal leiomyomatosis with malignant change, in a male. (2114697)
1990
44
Intravenous leiomyomatosis with intracardiac extension: an unusual cause of cardiac syncope. (2344578)
1990
45
Intravenous leiomyomatosis of the uterus. A clinicopathological analysis of 16 cases with unusual histologic features. (3202247)
1988
46
Diffuse uterine leiomyomatosis: a case study with pregnancy complicated by intrapartum hemorrhage. (3492695)
1987
47
Tricuspid stenosis due to intravenous leiomyomatosis--a call for caution: case report and review of the literature. (15226964)
1982
48
Intravenous leiomyomatosis; Diagnosis and management. (292846)
1979
49
Mesenchymal tumors of the uterus. V. Intravenous leiomyomatosis. A clinical and pathologic study of 14 cases. (1203870)
1975
50
Intravenous leiomyomatosis of the uterus. Report of 2 cases. (5909537)
1966

Genetic Variations for Leiomyomatosis

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Expression for genes affiliated with Leiomyomatosis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Leiomyomatosis

Search GEO for disease gene expression data for Leiomyomatosis.

Pathways for genes affiliated with Leiomyomatosis

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53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN
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Pathways related to Leiomyomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2COL4A6, COL4A5
2
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10.1LHCGR, GNRH1
3
Hide members
10.1SDHB, LDHA
4
Cell adhesion ECM remodeling
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10.0ITGA5, COL4A6, COL4A5
5
Cell adhesion Endothelial cell contacts by non-junctional mechanisms
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10.0ITGA5, COL4A6, COL4A5
6
Cell adhesion Integrin-mediated cell adhesion and migration
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9.8COL4A6, ITGA5, ACTC1, COL4A5
7
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9.8COL4A5, COL4A6, ITGA5, THBS1
8
Hide members
9.8ITGA5, COL4A5, COL4A6, THBS1
9
Hide members
9.6ITGA5, COL4A5, COL4A6, GNRH1, THBS1
10
Hide members
9.3ESR1, COL4A5, COL4A6, VHL, GNRH1, ITGA5

Compounds for genes affiliated with Leiomyomatosis

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44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience, 49PharmGKB
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Compounds related to Leiomyomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1estrogen4410.7IVL
2procollagen4410.6ITGA5
3goserelin44 28 1112.6GNRH1, LHCGR
4ici 1643844410.4ESR1, PGR
5Ethynodiol Diacetate1110.4ESR1, PGR
6gestrinone4410.4PGR, GNRH1
7Allylestrenol1110.4PGR, ESR1
8idoxifene4410.4ESR1, PGR
9Etonogestrel1110.4ESR1, PGR
10estradiol benzoate4410.4PGR, GNRH1, ESR1
11fumarate44 1111.4VHL, SDHB, FH
12triphenylethylene4410.3ESR1, PGR
13buserelin44 28 1112.3LHCGR, PGR, GNRH1
14clomiphene citrate4410.3GNRH1, PGR, ESR1
15toremifene44 1111.3ESR1, GNRH1, PGR
16tibolone4410.3PGR, ESR1, GNRH1
17danazol44 11 2412.3GNRH1, PGR, ESR1
18leuprolide acetate4410.2GNRH1, LHCGR, ESR1, PGR
19steroidal4410.2ESR1, GNRH1, PGR
20flutamide44 59 1112.2ESR1, GNRH1, PGR, LHCGR
21progestins4410.2THBS1, ESR1, GNRH1, PGR
22orcein4410.2ACTC1, DES
23raloxifene44 28 49 1113.2PGR, ESR1, GNRH1, THBS1
24diethylstilbestrol44 28 1112.1GNRH1, ESR1, PGR
25mifepristone44 59 28 1113.1GNRH1, THBS1, ESR1, PGR
26progestin4410.0DES, GNRH1, ESR1, LHCGR, PGR
27dihydrotestosterone44 28 11 2413.0PGR, DES, GNRH1, ESR1
28alpha-ketoglutarate4410.0VHL, FH, SDHB
29ribonucleic acid4410.0PGR, THBS1, GNRH1, LHCGR, ACTC1
305-aza-2deoxycytidine449.9THBS1, BNIP3, ESR1, PGR, VHL
31glucose449.9BNIP3, THBS1, ACTC1, SDHB, IVL
32dmso449.8SDHB, THBS1, PGR, GNRH1
33estradiol44 11 2411.8GNRH1, LHCGR, DES, PGR, THBS1, ESR1
34proline449.8IVL, VHL, LHCGR, DES, FH
35paraffin449.7DES, ESR1, ACTC1, PGR, IVL, THBS1
36cyclosporin a44 28 5911.7IVL, PGR, THBS1, ACTC1, SDHB, GNRH1
37progesterone44 59 28 11 2413.7PGR, LHCGR, THBS1, ACTC1, ESR1, DES
38iron44 2410.7SDHB, DES, IVL, VHL, ACTC1
395fluorouracil449.7BNIP3, GNRH1, IVL, PGR, ESR1, THBS1
40gnrh449.6GNRH1, PGR, LHCGR
41steroid449.6LHCGR, DES, ACTC1, ESR1, PGR, IVL
42testosterone44 59 11 2412.5SDHB, PGR, THBS1, DES, ESR1, LHCGR
43lactate449.5BNIP3, FH, IVL, DES, SDHB, LDHA
44retinoic acid44 2410.5IVL, GNRH1, DES, PGR, THBS1, ACTC1
45cysteine449.4DES, IVL, LHCGR, THBS1, PGR, COL4A5
46thymidine44 2410.3ITGA5, THBS1, NT5C1B, DES, IVL
47oxygen44 2410.2SDHB, BNIP3, DES, VHL, LDHA, FH
48tyrosine449.1FH, THBS1, ITGA5, IVL, DES, ACTC1
49calcium44 49 11 2411.8SDHB, ACTC1, THBS1, DES, BNIP3, LHCGR
50vegf448.7PGR, BNIP3, VHL, ITGA5, IVL, DES

GO Terms for genes affiliated with Leiomyomatosis

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16Gene Ontology
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Cellular components related to Leiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1collagen type IVGO:00558710.2COL4A6, COL4A5

Biological processes related to Leiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1uterus developmentGO:0600659.9ESR1, LHCGR
2extracellular matrix organizationGO:0301989.8THBS1, ITGA5, COL4A6, COL4A5

Products for genes affiliated with Leiomyomatosis

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  • Antibodies
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Sources for Leiomyomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet