MCID: LMY003
MIFTS: 39

Leiomyomatosis malady

Cancer diseases category
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Summaries for Leiomyomatosis

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Sources:
65Wikipedia, 33MalaCards
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Wikipedia:65 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 leiomyoma. 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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8Disease Ontology, 10DISEASES, 45Novoseek, 62UMLS, 40NCIt, 58SNOMED-CT, 35MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer diseases


Aliases & Descriptions:

leiomyomatosis 8 10 45 62
leiomyomatosis, no icd-o subtype 8


External Ids:

Disease Ontology8 DOID:5138
NCIt40 C3748
SNOMED-CT58 75210008
MeSH35 D018231

Related Diseases for Leiomyomatosis

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Sources:
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 71)
idRelated DiseaseScoreTop Affiliating Genes
1alport syndrome31.0COL4A5, COL4A6
2leiomyoma30.7ACTC1, ESR1, COL4A6, FH, COL4A5
3endometriosis30.5ESR1, ACTC1
4myoma30.4ESR1, FH
5leiomyosarcoma30.3FH, ACTC1
6uterine fibroid30.2FH, ESR1
7endometrial stromal sarcoma30.1ACTC1, ESR1
8cataract29.8COL4A5, COL4A6
9intravenous leiomyomatosis11.0
10hereditary leiomyomatosis and renal cell cancer10.8
11esophagitis10.7
12peritonitis10.7
13disseminated peritoneal leiomyomatosis10.6
14renal cell carcinoma10.5
15benign metastasizing leiomyoma10.3
16leiomyomatosis, esophageal and vulval, with nephropathy10.3
17diffuse peritoneal leiomyomatosis10.3
18pulmonary embolism10.2
19x-linked diffuse leiomyomatosis - alport syndrome10.2
20uterus intravascular leiomyomatosis10.1
21sarcoma10.1
22uterine corpus leiomyomatosis10.1
23fumarate hydratase deficiency10.1
24ductal carcinoma in situ10.1ESR1
25tuberous sclerosis10.1
26uterine corpus diffuse leiomyomatosis10.1
27achalasia10.1
28adenocarcinoma10.1
29kidney cancer10.1
30severe combined immunodeficiency10.1
31leiomyoma of vulva and esophagus10.1
32leiomyomatosis of esophagus, cataract and hematuria10.1
33adenosarcoma10.0ACTC1, ESR1
34primary hyperoxaluria10.0COL4A5, COL4A6
35angiomyolipoma10.0ESR1, ACTC1
36tubular adenocarcinoma10.0ESR1, ACTC1
37smooth muscle tumor10.0ESR1, ACTC1
38abrikosov's tumor10.0ACTC1, ESR1
39papillary carcinoma10.0ESR1, ACTC1
40arteriovenous fistula9.9
41neurofibromatosis9.9
42pleomorphic adenoma9.9
43ovarian brenner tumor9.9
44cystadenoma9.9
45vulvar leiomyoma9.9
46barrett's esophagus9.9
47infertility9.9
48duodenitis9.9
49endosalpingiosis9.9
50ovarian endometriosis9.9

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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Sources:
42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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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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33MalaCards
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MalaCards organs/tissues related to Leiomyomatosis:

33
Uterus, Smooth muscle, Heart, Small intestine, Kidney, Colon, Lymph node, Bone, Lung, Bone marrow, Breast, T cells, Trachea, Ovary, Pituitary, Adipocyte

Animal Models for Leiomyomatosis or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Leiomyomatosis:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7ESR1, FH, COL4A5
2MP:00107688.0ESR1, ACTC1, FH, COL4A5
3MP:00053767.7ESR1, ACTC1, FH, COL4A5

Publications for Leiomyomatosis

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Sources:
52PubMed
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Articles related to Leiomyomatosis:

(show top 50)    (show all 518)
idTitleAuthorsYear
1
eComment. Misdiagnosis of intravenous leiomyomatosis with cardiac extension. (23785088)
2013
2
Diffuse peritoneal leiomyomatosis. (23815223)
2013
3
Cutaneous clues to renal cell carcinoma: hereditary leiomyomatosis and renal cell carcinoma. (23652956)
2013
4
Management of intravascular leiomyomatosis: laparoscopic surgery for ordinary uterine fibroids led to an extraordinary finding. (23454251)
2013
5
A case of intravenous leiomyomatosis of uterine origin, extending through the inferior vena cava to right atrium. (22627954)
2013
6
Diffuse uterine leiomyomatosis in a child. (21710273)
2012
7
Intracardiac and intravenous leiomyomatosis. (23036637)
2012
8
Case 188: Intravenous leiomyomatosis with intracaval and intracardiac involvement. (23175549)
2012
9
Intravenous leiomyomatosis of the uterus with extension to the right heart. (21943238)
2011
10
Partial resection of intravenous leiomyomatosis with cardiac extension. (21225399)
2011
11
AIRP best cases in radiologic-pathologic correlation: intravenous leiomyomatosis. (21768238)
2011
12
Novel FH mutation in a patient with cutaneous leiomyomatosis associated with cutis verticis gyrata, eruptive collagenoma and Charcot-Marie-Tooth disease. (20560959)
2010
13
Intravenous leiomyomatosis with intracardiac extension: first reported case in Australia. (19423390)
2010
14
Evidence for a new fumarate hydratase gene mutation in a unilateral type 2 segmental leiomyomatosis. (20628236)
2010
15
Type 2 segmental cutaneous leiomyomatosis: an example of mosaicism. (19109093)
2009
16
Leiomyomatosis of the esophagus: experience over a decade. (18818979)
2009
17
Wilms tumour as a possible early manifestation of hereditary leiomyomatosis and renal cell cancer? (19183174)
2009
18
Esophageal leiomyomatosis combined with intrathoracic stomach and gastric volvulus. (19793488)
2009
19
Leiomyomatosis Peritonealis Disseminata with Features of Carcinomatosis on Laparoscopy: A case report. (21509316)
2009
20
Successful management of a leiomyomatosis peritonealis disseminata with an aromatase inhibitor. (18669776)
2008
21
Mechanisms of disease: hereditary leiomyomatosis and renal cell cancer--a distinct form of hereditary kidney cancer. (17287871)
2007
22
From gene to disease; cutaneous leiomyomatosis]. (17326474)
2007
23
Uterine plexiform leiomyomatosis with an intrinsic granulomatous response. (16581663)
2006
24
Type 2 segmental manifestation of cutaneous leiomyomatosis in four unrelated women with additional uterine leiomyomas (Reed's Syndrome). (16319483)
2006
25
Intravenous uterine leiomyomatosis with right heart extension: successful two-stage surgical removal. (16583249)
2006
26
Multimodality diagnostic imaging of diffuse esophageal leiomyomatosis. (16365582)
2006
27
Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer. (16237213)
2005
28
Pre- and postoperative MRI of esophageal and gastric leiomyomatosis in a pediatric patient. (15728005)
2005
29
Hereditary leiomyomatosis associated with bilateral, massive, macronodular adrenocortical disease and atypical cushing syndrome: a clinical and molecular genetic investigation. (15741255)
2005
30
Esophageal leiomyomatosis diagnosed by endoscopic ultrasound. (15731952)
2005
31
Leiomyomatosis metastatic to the tricuspid valve complicated by pelvic hemorrhage. (15680873)
2005
32
Successful one-stage radical removal of intravenous leiomyomatosis extending to the right ventricle. (15121610)
2004
33
Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas. (12177782)
2002
34
Ovarian endometriosis and clear cell carcinoma, leiomyomatosis peritonealis disseminata, and endometrial adenocarcinoma: an unusual, pathogenetically related association. (11444203)
2001
35
Late intracaval and intracardiac leiomyomatosis following hysterectomy for benign myomas treated by surgery and GnRH agonist. (11606110)
2001
36
Diffuse esophageal leiomyomatosis: another cause of pseudoachalasia. (14601910)
2000
37
Leiomyomatosis peritonealis disseminata in a postmenopausal woman. (11045333)
2000
38
Progesterone receptor activity in leiomyomatosis peritonealis disseminata. (12090595)
1999
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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2BioGPS, 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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Sources:
50PathCards, 30KEGG, 55Reactome, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters, 12EMD Millipore, 51PharmGKB
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Pathways related to Leiomyomatosis according to GeneCards/GeneDecks:

(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 adhesion38
Focal Adhesion38
9.4COL4A5, COL4A6
5
Show member pathways
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 motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
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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16Gene Ontology
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Cellular components related to Leiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.4COL4A5, COL4A6
2collagen type IVGO:0055879.1COL4A5, COL4A6

Biological processes related to Leiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix disassemblyGO:0226179.4COL4A5, COL4A6
2collagen catabolic processGO:0305749.1COL4A5, COL4A6

Molecular functions related to Leiomyomatosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular matrix structural constituentGO:0052019.4COL4A5, COL4A6

Products for genes affiliated with Leiomyomatosis

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Sources for Leiomyomatosis

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet