MCID: LMY003
MIFTS: 33

Leiomyomatosis malady

Summaries for Leiomyomatosis

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

MalaCards based summary: Leiomyomatosis, also known as leiomyomatosis, no icd-o subtype, is related to alport syndrome and myoma. An important gene associated with Leiomyomatosis is COL4A6 (collagen, type IV, alpha 6), and among its related pathways are Amoebiasis and Collagen biosynthesis and modifying enzymes. Affiliated tissues include uterus, smooth muscle and heart, and related mouse phenotypes are renal/urinary system and mortality/aging.

Aliases & Classifications for Leiomyomatosis

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 60UMLS, 38NCIt, 33MeSH, 55SNOMED-CT
See all sources

Leiomyomatosis, Aliases & Descriptions:

Name: Leiomyomatosis 9 11 43 60
 
Leiomyomatosis, No Icd-O Subtype 9


External Ids:

Disease Ontology9 DOID:5138
NCIt38 C3748
SNOMED-CT55 75210008
MeSH33 D018231

Related Diseases for Leiomyomatosis

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

(show top 50)    (show all 70)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome31.2COL4A5, COL4A6
2myoma30.6ESR1, FH
3uterine fibroid30.3FH, ESR1
4endometriosis30.3ACTC1, ESR1
5leiomyosarcoma30.2FH, ACTC1
6endometrial stromal sarcoma30.1ACTC1, ESR1
7leiomyoma29.9ESR1, ACTC1, FH, COL4A6, COL4A5
8cataract29.8COL4A6, COL4A5
9intravenous leiomyomatosis11.0
10leiomyomatosis and renal cell cancer10.9
11peritonitis10.7
12esophagitis10.7
13renal cell carcinoma10.6
14diffuse peritoneal leiomyomatosis10.3
15benign metastasizing leiomyoma10.3
16leiomyomatosis, esophageal and vulval, with nephropathy10.3
17renal nutcracker syndrome10.3
18ductal carcinoma in situ10.3ESR1
19uterus intravascular leiomyomatosis10.3
20uterine corpus diffuse leiomyomatosis10.2
21pulmonary embolism10.2
22uterine corpus leiomyomatosis10.2
23sarcoma10.2
24fumarate hydratase deficiency10.2
25leiomyomatosis of esophagus, cataract and hematuria10.2
26x-linked diffuse leiomyomatosis - alport syndrome10.2
27budd-chiari syndrome10.1
28severe combined immunodeficiency10.1
29infertility10.1
30tuberous sclerosis10.1
31achalasia10.1
32adenocarcinoma10.1
33kidney cancer10.1
34leiomyoma of vulva and esophagus10.1
35adenosarcoma10.0ACTC1, ESR1
36primary hyperoxaluria10.0COL4A6, COL4A5
37angiomyolipoma10.0ACTC1, ESR1
38tubular adenocarcinoma10.0ESR1, ACTC1
39smooth muscle tumor9.9ACTC1, ESR1
40abrikosov's tumor9.9ACTC1, ESR1
41currarino syndrome9.9
42lymphangioleiomyomatosis9.9
43neurofibromatosis, type 19.9
44arteriovenous fistula9.9
45charcot-marie-tooth disease9.9
46male infertility9.9
47pleomorphic adenoma9.9
48ovarian brenner tumor9.9
49cystadenoma9.9
50vulvar leiomyoma9.9

Graphical network of the top 20 diseases related to Leiomyomatosis:



Diseases related to leiomyomatosis

Symptoms for Leiomyomatosis

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Drugs & Therapeutics for Leiomyomatosis

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Drug clinical trials:

Search ClinicalTrials for Leiomyomatosis

Search NIH Clinical Center for Leiomyomatosis

Genetic Tests for Leiomyomatosis

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Anatomical Context for Leiomyomatosis

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MalaCards organs/tissues related to Leiomyomatosis:

31
Uterus, Smooth muscle, Heart, Kidney, Lymph node, Small intestine, Colon, Lung, Bone, Bone marrow, Adipocyte, Breast, Ovary, T cells, Trachea, Pituitary

Animal Models for Leiomyomatosis or affiliated genes

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MGI Mouse Phenotypes related to Leiomyomatosis:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7COL4A5, FH, ESR1
2MP:00107688.0COL4A5, FH, ACTC1, ESR1
3MP:00053767.7ESR1, ACTC1, FH, COL4A5

Publications for Leiomyomatosis

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Articles related to Leiomyomatosis:

(show top 50)    (show all 558)
idTitleAuthorsYear
1
Single-stage operation using hypothermic circulatory arrest to remove uterine intravenous leiomyomatosis extended to the vena cava and right atrium. (25579748)
2015
2
Leiomyomas beyond the uterus; benign metastasizing leiomyomatosis with paraaortic metastasizing endometriosis and intravenous leiomyomatosis: a case series and review of the literature. (25047270)
2014
3
Post-transplant diagnosis of hereditary leiomyomatosis and renal cell carcinoma syndrome in a kidney donor. (25859385)
2014
4
Uterine Intravenous Leiomyomatosis with Right Ventricular Extension. (24429697)
2014
5
eComment. Misdiagnosis of intravenous leiomyomatosis with cardiac extension. (23785088)
2013
6
Diffuse peritoneal leiomyomatosis. (23815223)
2013
7
Cutaneous clues to renal cell carcinoma: hereditary leiomyomatosis and renal cell carcinoma. (23652956)
2013
8
Management of intravascular leiomyomatosis: laparoscopic surgery for ordinary uterine fibroids led to an extraordinary finding. (23454251)
2013
9
A case of intravenous leiomyomatosis of uterine origin, extending through the inferior vena cava to right atrium. (22627954)
2013
10
Diffuse uterine leiomyomatosis in a child. (21710273)
2012
11
Intracardiac and intravenous leiomyomatosis. (23036637)
2012
12
Case 188: Intravenous leiomyomatosis with intracaval and intracardiac involvement. (23175549)
2012
13
Intravenous leiomyomatosis of the uterus with extension to the right heart. (21943238)
2011
14
Partial resection of intravenous leiomyomatosis with cardiac extension. (21225399)
2011
15
AIRP best cases in radiologic-pathologic correlation: intravenous leiomyomatosis. (21768238)
2011
16
Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. (20560959)
2010
17
Intravenous leiomyomatosis with intracardiac extension: first reported case in Australia. (19423390)
2010
18
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. (20628236)
2010
19
Type 2 segmental cutaneous leiomyomatosis: an example of mosaicism. (19109093)
2009
20
Leiomyomatosis of the esophagus: experience over a decade. (18818979)
2009
21
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
22
Esophageal leiomyomatosis combined with intrathoracic stomach and gastric volvulus. (19793488)
2009
23
Successful management of a leiomyomatosis peritonealis disseminata with an aromatase inhibitor. (18669776)
2008
24
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
25
From gene to disease; cutaneous leiomyomatosis]. (17326474)
2007
26
Uterine plexiform leiomyomatosis with an intrinsic granulomatous response. (16581663)
2006
27
Type 2 segmental manifestation of cutaneous leiomyomatosis in four unrelated women with additional uterine leiomyomas (Reed's Syndrome). (16319483)
2006
28
Intravenous uterine leiomyomatosis with right heart extension: successful two-stage surgical removal. (16583249)
2006
29
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
30
Pre- and postoperative MRI of esophageal and gastric leiomyomatosis in a pediatric patient. (15728005)
2005
31
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. (15741255)
2005
32
Esophageal leiomyomatosis diagnosed by endoscopic ultrasound. (15731952)
2005
33
Leiomyomatosis metastatic to the tricuspid valve complicated by pelvic hemorrhage. (15680873)
2005
34
Successful one-stage radical removal of intravenous leiomyomatosis extending to the right ventricle. (15121610)
2004
35
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. (12177782)
2002
36
Ovarian endometriosis and clear cell carcinoma, leiomyomatosis peritonealis disseminata, and endometrial adenocarcinoma: an unusual, pathogenetically related association. (11444203)
2001
37
Late intracaval and intracardiac leiomyomatosis following hysterectomy for benign myomas treated by surgery and GnRH agonist. (11606110)
2001
38
Diffuse leiomyomatosis of the uterus: a case report with clonality analysis. (11112221)
2000
39
Intravenous leiomyomatosis with caval involvement: report of a case with radical resection and venous replacement. (9565130)
1998
40
Topoisomerase I and II consensus sequences in a 17-kb deletion junction of the COL4A5 and COL4A6 genes and immunohistochemical analysis of esophageal leiomyomatosis associated with Alport syndrome. (9463311)
1998
41
Diffuse leiomyomatosis of the oesophagus--a case report. (9601829)
1998
42
Leiomyomatosis peritonealis disseminata occurring in a postmenopausal woman: report of a case. (8883241)
1996
43
Leiomyomatosis peritonealis disseminata. Two case reports. (8758301)
1996
44
Leuprolide acetate and intravascular leiomyomatosis. (7675416)
1995
45
Leiomyomatosis peritonealis disseminata. A report of two cases. (7996533)
1994
46
High-output cardiac failure: an unusual manifestation of intravenous leiomyomatosis. (8456404)
1993
47
Leiomyomatosis peritonealis disseminata. (3061357)
1988
48
Recurrent pelvic intravenous leiomyomatosis. (7465135)
1981
49
Intravenous leiomyomatosis of the uterus with extension into the heart. (7416191)
1980
50
Intravenous leiomyomatosis of the uterus. A report of four cases. (13904785)
1961

Variations for Leiomyomatosis

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Expression for genes affiliated with Leiomyomatosis

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Search GEO for disease gene expression data for Leiomyomatosis.

Pathways for genes affiliated with Leiomyomatosis

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Pathways related to Leiomyomatosis according to GeneCards Suite gene sharing:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4COL4A5, COL4A6
2
Show member pathways
9.4COL4A5, COL4A6
3
Show member pathways
9.4COL4A5, COL4A6
4
Show member pathways
Integrin-mediated cell adhesion36
Focal Adhesion36
9.4COL4A5, COL4A6
5
Show member pathways
Metalloproteases in connective tissue degradation
9.4COL4A5, COL4A6
69.4COL4A6, COL4A5
79.4COL4A6, COL4A5
89.4COL4A5, COL4A6
99.4COL4A5, COL4A6
109.4COL4A5, COL4A6
118.9COL4A5, COL4A6, FH
12
Show member pathways
8.9ESR1, COL4A6, COL4A5
13
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
8.6COL4A5, COL4A6, ACTC1

Compounds for genes affiliated with Leiomyomatosis

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GO Terms for genes affiliated with Leiomyomatosis

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:00057889.4COL4A5, COL4A6
2collagen type IVGO:00055879.1COL4A5, COL4A6

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:00226179.4COL4A5, COL4A6
2collagen catabolic processGO:00305749.1COL4A5, COL4A6

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

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:00052019.4COL4A5, COL4A6

Products for genes affiliated with Leiomyomatosis

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Sources for Leiomyomatosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet