MCID: ANG018
MIFTS: 43

Angiomyolipoma malady

Summaries for Angiomyolipoma

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Wikipedia:63 Angiomyolipomas are the most common benign tumour of the kidney and are composed of blood vessels,... more...

MalaCards based summary: Angiomyolipoma is related to renal cell carcinoma and lymphangioleiomyomatosis. An important gene associated with Angiomyolipoma is TSC1 (tuberous sclerosis 1), and among its related pathways are PI3K / Akt Signaling and Aurora B signaling. The compounds toluidine and phalloidin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related mouse phenotypes are embryogenesis and behavior/neurological.

Disease Ontology:9 A cell type benign neoplasm that from perivascular epithelioid cells.

Aliases & Classifications for Angiomyolipoma

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

Angiomyolipoma, Aliases & Descriptions:

Name: Angiomyolipoma 9 11 43 60


External Ids:

Disease Ontology9 DOID:3314
NCIt38 C3734
SNOMED-CT55 19929002
MeSH33 D018207

Related Diseases for Angiomyolipoma

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1renal cell carcinoma31.4MTOR
2lymphangioleiomyomatosis31.4DES, TSC2, TSC1
3perivascular epithelioid cell tumor31.1TSC2
4kidney angiomyolipoma31.0TSC2, TSC1, MTOR
5tuberous sclerosis30.8VIM, TSC2, TSC1, CCL26, MTOR
6liposarcoma30.7VIM, DES
7tuberous sclerosis-130.7TSC1, TSC2
8subependymal giant cell astrocytoma30.5TSC2, TSC1, MTOR
9astrocytoma30.5VIM, TSC2, TSC1
10neurofibromatosis30.3TSC1, TSC2
11polycystic kidney disease30.1TSC2, MTOR
12rhabdomyosarcoma29.8DES, VIM, ACTC1
13sarcoma29.7ACTC1, MTOR, VIM, DES
14melanoma29.5ACTC1, MTOR, TSC2, VIM, DES
15adenocarcinoma28.9PGR, VIM, TSC2, TSC1, CCL26, ACTC1
16hepatitis11.0
17hepatic angiomyolipoma11.0
18hepatocellular carcinoma10.5
19infantile myofibromatosis10.5DES
20alexander disease10.5DES
21secretory meningioma10.4VIM
22adenomatoid tumor10.4VIM
23leiomyomatosis10.4PGR
24ductal carcinoma in situ10.4PGR
25ganglioglioma10.4TSC2, TSC1
26west syndrome10.3TSC1, TSC2
27cowden disease10.3TSC1, TSC2
28aneurysm10.3
29fasciitis10.3ACTC1
30mesenchymal chondrosarcoma10.3DES, VIM
31alveolar soft-part sarcoma10.3VIM, DES
32childhood kidney angiomyolipoma10.3
33granular cell tumor10.3DES, VIM
34chordoma10.2VIM, DES
35ependymoma10.2TSC2, VIM
36oxyphilic adenoma10.2VIM, TSC1
37malignant mixed mullerian tumor10.2VIM, PGR
38tsc2 angiomyolipomas, renal, modifier of10.2
39hemangioma10.2
40epithelioid type angiomyolipoma10.2
41mediastinitis10.2
42pulmonary embolism10.2
43clear cell renal cell carcinoma10.2
44benign breast phyllodes tumor10.2PGR, VIM
45sarcoma, synovial10.2DES, VIM
46mesothelioma, somatic10.1VIM, DES
47uterine fibroid10.1DES, PGR
48cystic kidney10.1TSC2, TSC1, CCL26
49desmoid disease, hereditary10.1DES, ACTC1
50cutaneous fibrous histiocytoma10.1ACTC1, DES

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to angiomyolipoma

Symptoms for Angiomyolipoma

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Drugs & Therapeutics for Angiomyolipoma

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Drug clinical trials:

Search ClinicalTrials for Angiomyolipoma

Search NIH Clinical Center for Angiomyolipoma

Genetic Tests for Angiomyolipoma

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Anatomical Context for Angiomyolipoma

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MalaCards organs/tissues related to Angiomyolipoma:

31
Kidney, Liver, Lung, Smooth muscle, Colon, Small intestine, Tongue, Lymph node, Adrenal gland, Breast, Bone, Adipocyte, Thyroid, Skin, Ovary, Testes

Animal Models for Angiomyolipoma or affiliated genes

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MGI Mouse Phenotypes related to Angiomyolipoma:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.2MTOR, TSC1, TSC2, VIM, PGR
2MP:00053867.6DES, PGR, VIM, TSC2, TSC1, MTOR
3MP:00053857.6DES, PGR, VIM, TSC2, TSC1, ACTC1
4MP:00053697.4ACTC1, MTOR, TSC1, VIM, PGR, DES
5MP:00053767.0DES, PGR, VIM, TSC2, TSC1, MTOR
6MP:00053847.0PGR, VIM, TSC2, TSC1, MTOR, ACTC1
7MP:00107686.9DES, PGR, VIM, TSC2, TSC1, MTOR

Publications for Angiomyolipoma

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Articles related to Angiomyolipoma:

(show top 50)    (show all 678)
idTitleAuthorsYear
1
Successful treatment with sirolimus for an angiomyolipoma mimicking renal cell carcinoma in a transplanted kidney. (25790294)
2015
2
A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD). (25199882)
2014
3
Spontaneous rupture of renal angiomyolipoma during pregnancy. (25184352)
2014
4
Renal angiomyolipoma and lymphangioleiomyomatosis in pregnancy. (23919845)
2013
5
Spontaneous Retroperitoneal Hemorrhage (Wunderlich Syndrome) due to Large Upper Pole Renal Angiomyolipoma: Does Robotic-Assisted Laparoscopic Partial Nephrectomy Have a Role in Primary Treatment? (24106637)
2013
6
A rare benign parotid gland tumor: angiomyolipoma. (24220485)
2013
7
Immunohistochemical character of hepatic angiomyolipoma: for its management. (23864864)
2013
8
Bilateral papillary renal cell carcinoma and angiomyolipoma in the patients with autosomal dominant polycystic kidney disease: case report of two cases and literature review. (24375046)
2013
9
Radiologic-pathologic correlation in liver angiomyolipoma in a 68-year-old woman. (24054810)
2013
10
Commentary on: everolimus for angiomyolipoma associated with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis (EXIST-2): a multicentre, randomised, double-blind, placebo-controlled trial. (23642941)
2013
11
Angiomyolipoma with minimal fat and non-clear cell renal cell carcinoma: differentiation on MDCT using classification and regression tree analysis-based algorithm. (24259298)
2013
12
Renal angiomyolipoma - sarcomatous transformation and cavoatrial extension. (24426695)
2013
13
Renal epithelioid angiomyolipoma: a rare variant with unusual behavior. (23928927)
2013
14
Pelvic angiomyolipoma. (21722945)
2012
15
An unusual appearance of renal epithelioid angiomyolipoma. (23112030)
2012
16
Enhancement pattern of angiomyolipoma without visible fat versus that of renal cell carcinoma. (22993224)
2012
17
Robot assisted partial nephrectomy (Da Vinci) in an angiomyolipoma associated to WA1nderlich Syndrome. (23154607)
2012
18
Nephron-sparing resection of angiomyolipoma after sirolimus pretreatment in patients with tuberous sclerosis. (23054313)
2012
19
Imaging findings in myomatous angiomyolipoma of the liver. (22517073)
2012
20
Three trocars laparoscopic resection of angiomyolipoma of the liver. (22135749)
2011
21
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. (21629335)
2011
22
Hepatic angiomyolipoma with a giant hemangioma. (22041879)
2011
23
Angiomyolipoma manifested as accessory kidney mass. (21426896)
2011
24
Transradial embolization of a bleeding renal angiomyolipoma. (21571778)
2011
25
Trends of presentation and clinical outcome of treated renal angiomyolipoma. (20635448)
2010
26
A rare benign laryngeal tumor: angiomyolipoma. (21119467)
2010
27
Hepatic angiomyolipoma and intramural small intestinal schwannoma: a coincidence or a relationship? (19282295)
2010
28
F-18 FDG PET/CT findings in two patients with hepatic angiomyolipoma with and without intratumoral hemorrhage. (20026966)
2010
29
Hemodynamic characterization of hepatic angiomyolipoma with least amount of fat evaluated by contrast-enhanced magnetic resonance angiography. (19319591)
2010
30
Evaluation of renal function of angiomyolipoma patients after selective transcatheter arterial embolization. (19214025)
2009
31
Angiomyolipoma of the colon: report of a case. (19882325)
2009
32
A case report of spontaneous rupture of a renal angiomyolipoma in a post-partum 21-year-old patient. (19219616)
2009
33
Polycythemia vera as a presentation of renal angiomyolipoma: a case report. (19946506)
2009
34
Epithelioid renal angiomyolipoma]. (18592777)
2008
35
Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. (18308125)
2008
36
Sclerosing variant of epithelioid angiomyolipoma. (18429830)
2008
37
Malignant epithelioid angiomyolipoma of the kidney in a patient with tuberous sclerosis: an autopsy case report with p53 gene mutation analysis. (18547741)
2008
38
Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? (17592550)
2007
39
Renal angiomyolipoma with a minimal fatty component mimicking renal cell carcinoma. (17703839)
2007
40
Hepatic angiomyolipoma: identification of an efferent vessel to be hepatic vein by contrast-enhanced harmonic ultrasound. (16177023)
2005
41
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
42
Growth of hepatic angiomyolipoma indicating malignant potential. (15482547)
2004
43
Loss of calponin h1 in renal angiomyolipoma correlates with aggressive clinical behavior. (15351572)
2004
44
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. (12711473)
2003
45
The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms. (11485907)
2001
46
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. (10631194)
2000
47
Trabecular angiomyolipoma mimicking hepatic cell carcinoma. (11033464)
2000
48
Hepatic angiomyolipoma: a clinicopathologic study of 30 cases and delineation of unusual morphologic variants. (9888702)
1999
49
Hepatic angiomyolipoma. (7820028)
1994
50
Hepatic angiomyolipoma in a tuberous sclerosis patient. (2401620)
1990

Variations for Angiomyolipoma

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Expression for genes affiliated with Angiomyolipoma

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Search GEO for disease gene expression data for Angiomyolipoma.

Pathways for genes affiliated with Angiomyolipoma

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Pathways related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TSC2, TSC1
2
Show member pathways
Signaling by Aurora kinases36
Aurora C signaling36
9.6VIM, DES
39.5MTOR, TSC2
4
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors58
9.5MTOR, TSC2
5
Show member pathways
9.4VIM, MTOR
69.3MTOR, CCL26
7
Show member pathways
9.3TSC1, TSC2, VIM
8
Show member pathways
Signaling Pathways in Glioblastoma36
9.1MTOR, TSC1, TSC2
9
Show member pathways
Transcription Receptor mediated HIF regulation58
Development CNTF receptor signaling58
Class IB PI3K non-lipid kinase events36
ErbB2/ErbB3 signaling events36
Development Growth hormone signaling via PI3K AKT and MAPK cascades58
Translation Regulation activity of EIF258
Regulation of lipid metabolism Insulin signaling generic cascades58
Transcription PPAR Pathway58
Cell adhesion PLAU signaling58
Translation Regulation activity of EIF4F58
9.1TSC2, TSC1, MTOR
109.1MTOR, TSC1, TSC2
119.1TSC2, TSC1, MTOR
129.1MTOR, TSC1, TSC2
13
Show member pathways
Prostate Cancer36
Integrated Cancer pathway36
Steroid Biosynthesis36
9.1TSC2, TSC1, MTOR
149.1MTOR, TSC1, TSC2
159.1MTOR, TSC1, TSC2
16
Show member pathways
mTOR signaling pathway36
9.1TSC2, TSC1, MTOR
179.1TSC2, TSC1, MTOR
18
Show member pathways
Development IGF RI signaling
Immune response IL 4 signaling pathway58
Signal transduction AKT signaling58
9.1TSC2, TSC1, MTOR
19
Show member pathways
9.1TSC2, TSC1, MTOR
209.1MTOR, TSC1, TSC2
21
Show member pathways
9.0MTOR, TSC2, PGR
22
Show member pathways
8.8ACTC1, VIM, DES
238.8DES, VIM, ACTC1
24
Show member pathways
8.4DES, VIM, TSC2, TSC1, CCL26

Compounds for genes affiliated with Angiomyolipoma

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Compounds related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1toluidine439.9DES, VIM
2phalloidin439.8DES, VIM
3guanosine43 24 1211.7TSC1, TSC2, VIM
4gemfibrozil28 43 1211.7VIM, DES
5bezafibrate43 28 1211.6VIM, DES
6taxane439.6PGR, MTOR
7everolimus43 49 1211.6TSC2, TSC1, MTOR
82-methoxyethanol439.5ACTC1, VIM
9spec-t439.5PGR, TSC1
10progestin439.5VIM, PGR, DES
11adriamycin439.5VIM, PGR, DES
12dihydrotestosterone43 28 24 1212.5VIM, PGR, DES
13okadaic acid43 5910.3MTOR, TSC2, VIM
14orcein439.2DES, VIM, ACTC1
15s 100439.2ACTC1, VIM, DES
16reticulin439.2DES, VIM, ACTC1
17mucicarmine439.2ACTC1, VIM, DES
18b 723439.2ACTC1, VIM, DES
1912-o-tetradecanoylphorbol 13-acetate439.2MTOR, VIM, DES
20hematoxylin439.2ACTC1, VIM, DES
21actomyosin439.2ACTC1, VIM
22procollagen439.2DES, VIM, ACTC1
23biotin43 24 1211.2DES, VIM, ACTC1
24formaldehyde43 2410.1ACTC1, VIM, DES
25adenylate439.1DES, PGR, VIM, TSC2
26phosphoinositide439.1VIM, TSC2, TSC1, MTOR
27tamoxifen43 49 28 1212.1MTOR, VIM, PGR
28threonine439.0DES, TSC2, TSC1, MTOR
29imatinib43 49 1211.0DES, MTOR, ACTC1
30arginine438.9DES, VIM, TSC2, MTOR
31doxorubicin43 49 1210.9DES, PGR, VIM, MTOR
32estradiol43 24 1210.9DES, PGR, VIM, MTOR
33matrigel438.8ACTC1, MTOR, VIM
34wortmannin438.7MTOR, TSC2, VIM
35cysteine438.7DES, PGR, VIM, CCL26
36atp43 289.6VIM, TSC2, CCL26, MTOR
37progesterone43 28 59 24 1212.6DES, PGR, VIM, ACTC1
38rapamycin438.6VIM, TSC2, TSC1, CCL26, MTOR
39serine438.6MTOR, TSC1, TSC2, VIM, DES
40dexamethasone43 49 28 1211.4PGR, VIM, MTOR, ACTC1
41glucose438.3DES, TSC2, TSC1, MTOR, ACTC1
42tyrosine438.2DES, TSC2, TSC1, MTOR, ACTC1
43steroid438.1DES, PGR, TSC2, MTOR, ACTC1
44oxygen43 249.1DES, TSC2, CCL26, MTOR, ACTC1
45retinoic acid43 249.0DES, PGR, VIM, MTOR, ACTC1
46paraffin438.0DES, PGR, VIM, TSC2, TSC1, ACTC1
47glycogen43 248.9DES, VIM, TSC2, TSC1, MTOR, ACTC1
48testosterone43 59 24 1210.7DES, PGR, VIM, TSC2, MTOR, ACTC1
49estrogen437.7ACTC1, MTOR, TSC2, VIM, PGR, DES
50vegf437.4ACTC1, DES, PGR, VIM, TSC2, TSC1

GO Terms for genes affiliated with Angiomyolipoma

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

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:00335969.7TSC1, TSC2
2actin filamentGO:00058849.3ACTC1, TSC1
3cytosolGO:00058297.1DES, VIM, TSC2, TSC1, MTOR, ACTC1

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:00320079.9TSC1, TSC2
2cell projection organizationGO:00300309.8TSC1, TSC2
3neural tube closureGO:00018439.8TSC1, TSC2
4protein heterooligomerizationGO:00512919.7TSC2, TSC1
5regulation of protein kinase activityGO:00458599.6TSC1, MTOR
6negative regulation of cell sizeGO:00457929.4MTOR, TSC1, TSC2
7positive regulation of actin filament polymerizationGO:00308389.3MTOR, CCL26
8insulin receptor signaling pathwayGO:00082869.3TSC2, TSC1, MTOR
9positive regulation of endothelial cell proliferationGO:00019389.0MTOR, CCL26
10muscle filament slidingGO:00300499.0ACTC1, VIM, DES

Products for genes affiliated with Angiomyolipoma

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Sources for Angiomyolipoma

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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