MCID: LMY003
MIFTS: 43

Leiomyomatosis malady

Summaries for Leiomyomatosis

Sources:
64Wikipedia, 33MalaCards
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Wikipedia:64 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 alport syndrome and hereditary leiomyomatosis and renal cell cancer. 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. Related mouse phenotypes are renal/urinary system and tumorigenesis.

Aliases & Classifications for Leiomyomatosis

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 57SNOMED-CT, 35MeSH
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Aliases & Descriptions:

leiomyomatosis 8 10 45 61
leiomyomatosis, no icd-o subtype 8


External Ids:

Disease Ontology8 DOID:5138
NCIt40 C3748
SNOMED-CT57 75210008
MeSH35 D018231

Related Diseases for Leiomyomatosis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome30.9COL4A5, COL4A6
2hereditary leiomyomatosis and renal cell cancer30.9FH, SDHB
3leiomyoma, uterine, somatic30.5FH
4myoma30.3DES, PGR
5fumarate hydratase deficiency30.1FH
6uterine fibroid30.1IVL, PGR, FH, GNRH1, ESR1
7tuberous sclerosis30.0VHL
8endometrial stromal sarcoma30.0PGR, ACTC1, DES, ESR1
9adenocarcinoma30.0BNIP3, VHL, PGR, THBS1, ACTC1, ESR1
10cystadenoma29.8VHL
11neurofibromatosis29.8SDHB, VHL
12lymphangioleiomyomatosis29.8ESR1, DES, PGR
13infertility29.8PRND, GNRH1, ESR1, LHCGR
14papillary carcinoma29.8ESR1, ACTC1, THBS1, PGR
15adenoma29.8GNRH1, THBS1, ACTC1, LHCGR, VHL
16intravenous leiomyomatosis11.0
17disseminated peritoneal leiomyomatosis10.6
18benign metastasizing leiomyoma10.4
19diffuse peritoneal leiomyomatosis10.3
20leiomyomatosis, esophageal and vulval, with nephropathy10.3
21esophagus leiomyoma10.3
22leiomyoma cutis10.2
23vulvar leiomyoma10.2
24gastric leiomyoma10.2
25uterus intravascular leiomyomatosis10.2
26peritoneal carcinoma10.2
27small intestine leiomyoma10.1
28colon leiomyoma10.1
29uterine corpus leiomyomatosis10.1
30germ cell cancer10.1
31achalasia10.0
32uterine corpus diffuse leiomyomatosis10.0
33n syndrome10.0
34char syndrome10.0
35leiomyoma of vulva and esophagus10.0
36leiomyomatosis of esophagus, cataract and hematuria10.0
37mass syndrome10.0
38angiosarcoma10.0ACTC1
39carney triad10.0SDHB
40infantile myofibromatosis10.0DES
41prostatic hypertrophy10.0GNRH1
42fasciitis10.0ACTC1
43sertoli-leydig cell tumor10.0PGR
44alzheimer's disease10.0PRND
45desmoid tumor10.0DES, ACTC1
46male infertility10.0GNRH1
47lipoma10.0DES
48leydig cell tumor10.0GNRH1, LHCGR
49cataract10.0COL4A6, COL4A5
50hypertrophic cardiomyopathy10.0ACTC1

Graphical network of the top 20 diseases related to Leiomyomatosis:



Diseases related to leiomyomatosis

Clinical Features for Leiomyomatosis

Drugs & Therapeutics for Leiomyomatosis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Anatomical Context for Leiomyomatosis

Animal Models for Leiomyomatosis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Leiomyomatosis

Sources:
51PubMed
See all sources

Articles related to Leiomyomatosis:

(show top 50)    (show all 526)
idTitleAuthorsYear
1
Young-onset peri-anorectal leiomyomatosis: report of a case. (22610456)
2013
2
Intravascular adenomyomatosis: expanding the morphologic spectrum of intravascular leiomyomatosis. (24076777)
2013
3
Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome. (23958657)
2013
4
Leiomyomatosis peritonealis disseminata associated with ascites and endometriosis: a case report and review of the literature. (24294802)
2013
5
Familial leiomyomatosis cutis affecting nine family members in two successive generations including four cases of Reed's syndrome. (23254734)
2013
6
Intracardiac and intravenous leiomyomatosis. (23036637)
2012
7
Case 188: Intravenous leiomyomatosis with intracaval and intracardiac involvement. (23175549)
2012
8
One-stage surgical removal of intravenous leiomyomatosis with right heart extension is safe. (21676687)
2011
9
Intravenous uterine leiomyomatosis extending into the right heart. (21299517)
2011
10
Disseminated peritoneal leiomyomatosis. (23365481)
2011
11
Abdominal leiomyomatosis. (21364845)
2010
12
Esophageal leiomyomatosis combined with intrathoracic stomach and gastric volvulus. (19793488)
2009
13
Recurrent leiomyomatosis. (19896592)
2009
14
Consequences of a wait-and-see strategy for benign metastasizing leiomyomatosis of the lung. (19161793)
2009
15
Radical surgical cytoreduction of progressive leiomyomatosis peritonealis disseminata: a case report. (19691262)
2009
16
Obstructive shock in a 47 year old female with a deep venous thrombosis due to intravascular leiomyomatosis: a case report. (19830055)
2009
17
Anesthetic management of a patient with Alport-leiomyomatosis syndrome. (19685135)
2009
18
Disseminated peritoneal leiomyomatosis: an unusual complication of laparoscopic myomectomy. (18193441)
2008
19
Disseminated peritoneal leiomyomatosis. (18400601)
2008
20
Non-Hodgkin's lymphoma associated with leiomyomatosis presenting with intense pruritus. (17340029)
2007
21
Surgical treatment of multiple intracardiac and pulmonary artery tumor implants embolic from uterine intravascular leiomyomatosis. (17616048)
2007
22
Leiomyomatosis peritonealis disseminata (2006: 9b). (17047963)
2006
23
Disseminated peritoneal leiomyomatosis coexisting with leiomyoma of the uterine body. (16341539)
2006
24
Esophageal leiomyomatosis diagnosed by endoscopic ultrasound. (15731952)
2005
25
Diffuse esophageal leiomyomatosis with a pedunculated polyp. (15622487)
2004
26
The association of anorectal leiomyomatosis and diffuse oesophageal leiomyomatosis. (12942269)
2003
27
Benign pulmonary metastasizing leiomyomatosis in pregnancy: a rare complication after cesarean section. (12848652)
2003
28
Intravenous leiomyomatosis extending to the heart. (12527462)
2003
29
Intravenous leiomyomatosis with atypical histologic features: a case report. (12631226)
2003
30
Intravenous leiomyomatosis with cardiac extension in an elderly woman: report of a case]. (11517553)
2001
31
Leiomyomatosis peritonealis disseminata in a postmenopausal woman. (11045333)
2000
32
MRI of intravascular leiomyomatosis extending to the heart. (10823652)
2000
33
Two cases of type 2 segmental manifestation in a family with cutaneous leiomyomatosis. (11125318)
2000
34
Alport syndrome and diffuse leiomyomatosis. Clinical aspects, pathology, molecular biology and extracellular matrix studies. A synthesis. (10730274)
2000
35
Images in cardiovascular medicine. Uterine intravenous leiomyomatosis extending through the inferior vena cava into the right cardiac cavities. (10662757)
2000
36
Intravenous leiomyomatosis extending into the right ventricular cavity: one-stage radical operation using cardiopulmonary bypass--a case report. (10870860)
2000
37
Progesterone receptor activity in leiomyomatosis peritonealis disseminata. (12090595)
1999
38
Combined surgical and medical approach to intravenous leiomyomatosis with cardiac extension. (10352741)
1999
39
Leiomyomatosis peritonealis disseminata: does malignant transformation occur? A literature review. (10502446)
1999
40
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. (10362815)
1999
41
Intravenous leiomyomatosis with caval involvement: report of a case with radical resection and venous replacement. (9565130)
1998
42
Intravenous leiomyomatosis of the uterus. A report of three cases. (9555121)
1998
43
Diffuse leiomyomatosis of the uterus. (8835266)
1995
44
Disseminated peritoneal leiomyomatosis. An unusual case. (7991470)
1994
45
Diffuse leiomyomatosis of the uterus in pregnancy. A case report. (8169920)
1994
46
Intravascular leiomyomatosis with uterine lipoleiomyoma. (8307509)
1994
47
Intravenous leiomyomatosis with massive ascites. (1350545)
1992
48
Intracardiac extension of intravenous leiomyomatosis. (3393658)
1988
49
Uterine intravascular leiomyomatosis: an update and report of seven cases. (3692675)
1987
50
Intravenous leiomyomatosis of the uterus with extension into the heart. (7416191)
1980

Genetic Variations for Leiomyomatosis

Expression for genes affiliated with Leiomyomatosis

Sources:
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

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG, 52QIAGEN
See all sources

Pathways related to Leiomyomatosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2COL4A6, COL4A5
2
Hide members
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
Hide members
9.8COL4A6, ITGA5, ACTC1, COL4A5
7
Hide members
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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 50PharmGKB
See all sources

Compounds related to Leiomyomatosis according to GeneCards/GeneDecks:

(show top 50)    (show all 75)
idCompoundScoreTop Affiliating Genes
1estrogen4510.7IVL
2procollagen4510.6ITGA5
3goserelin45 29 1112.6GNRH1, LHCGR
4ici 1643844510.4ESR1, PGR
5Ethynodiol Diacetate1110.4ESR1, PGR
6gestrinone4510.4PGR, GNRH1
7idoxifene4510.4ESR1, PGR
8Allylestrenol1110.4PGR, ESR1
9Etonogestrel1110.4ESR1, PGR
10estradiol benzoate4510.4PGR, GNRH1, ESR1
11fumarate45 1111.4VHL, FH, SDHB
12triphenylethylene4510.3ESR1, PGR
13buserelin45 29 1112.3GNRH1, LHCGR, PGR
14toremifene45 1111.3GNRH1, PGR, ESR1
15clomiphene citrate4510.3GNRH1, ESR1, PGR
16tibolone4510.3PGR, ESR1, GNRH1
17danazol45 11 2412.3GNRH1, PGR, ESR1
18leuprolide acetate4510.2GNRH1, LHCGR, ESR1, PGR
19steroidal4510.2GNRH1, PGR, ESR1
20flutamide45 60 1112.2GNRH1, PGR, LHCGR, ESR1
21progestins4510.2PGR, ESR1, THBS1, GNRH1
22raloxifene45 29 50 1113.2THBS1, ESR1, GNRH1, PGR
23diethylstilbestrol45 29 1112.1GNRH1, PGR, ESR1
24norgestimate45 1111.1PGR, ESR1
25mifepristone45 60 29 1113.1ESR1, GNRH1, THBS1, PGR
26progestin4510.0DES, GNRH1, ESR1, LHCGR, PGR
27dihydrotestosterone45 29 11 2413.0ESR1, DES, PGR, GNRH1
28alpha-ketoglutarate4510.0SDHB, FH, VHL
29ribonucleic acid4510.0PGR, THBS1, LHCGR, GNRH1, ACTC1
305-aza-2deoxycytidine459.9VHL, PGR, ESR1, BNIP3, THBS1
31glucose459.9BNIP3, THBS1, ACTC1, SDHB, IVL
32gnrh459.8GNRH1, PGR, LHCGR
33dmso459.8SDHB, THBS1, PGR, GNRH1
34estradiol45 11 2411.8GNRH1, LHCGR, DES, PGR, THBS1, ESR1
35proline459.8LHCGR, VHL, FH, DES, IVL
36paraffin459.7DES, ESR1, ACTC1, PGR, IVL, THBS1
37cyclosporin a45 29 6011.7IVL, PGR, THBS1, ACTC1, SDHB, GNRH1
38progesterone45 60 29 11 2413.7THBS1, ACTC1, LHCGR, ESR1, PGR, DES
39iron45 2410.7DES, SDHB, IVL, VHL, ACTC1
405fluorouracil459.7BNIP3, GNRH1, IVL, PGR, ESR1, THBS1
41steroid459.6LHCGR, DES, ACTC1, ESR1, PGR, IVL
42testosterone45 60 11 2412.5SDHB, PGR, THBS1, DES, ESR1, LHCGR
43lactate459.5BNIP3, FH, IVL, DES, SDHB, LDHA
44retinoic acid45 2410.5GNRH1, ESR1, ACTC1, THBS1, PGR, DES
45cysteine459.4COL4A5, LHCGR, DES, SDHB, THBS1, IVL
46oxygen45 2410.2SDHB, BNIP3, DES, VHL, LDHA, FH
47tyrosine459.1VHL, FH, DES, ITGA5, IVL, THBS1
48thymidine45 2410.1THBS1, NT5C1B, DES, IVL, ITGA5
49calcium45 50 11 2411.8BNIP3, LHCGR, VHL, SDHB, ACTC1, IVL
50vegf458.7PGR, BNIP3, VHL, ITGA5, IVL, DES

GO Terms for genes affiliated with Leiomyomatosis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Leiomyomatosis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet