MCID: ANG018
MIFTS: 51

Angiomyolipoma malady

Cancer diseases category

Summaries for Angiomyolipoma

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9Disease Ontology, 66Wikipedia, 34MalaCards
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Wikipedia:66 Angiomyolipomas are the most common benign tumour of the kidney and are composed of blood vessels,... more...

MalaCards: Angiomyolipoma is related to tuberous sclerosis 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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9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 41NCIt, 59SNOMED-CT, 36MeSH
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Classifications:

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


Aliases & Descriptions:

angiomyolipoma 9 11 46 63


External Ids:

Disease Ontology9 DOID:3314
NCIt41 C3734
SNOMED-CT59 19929002
MeSH36 D018207

Related Diseases for Angiomyolipoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Angiomyolipoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 140)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.2VIM, TSC2, TSC1, CCL26, MTOR
2lymphangioleiomyomatosis31.1DES, TSC2, TSC1
3tuberous sclerosis complex31.1TSC1, TSC2
4kidney angiomyolipoma30.8TSC2, TSC1, MTOR
5perivascular epithelioid cell tumor30.4TSC2
6liposarcoma30.4VIM, DES
7subependymal giant cell astrocytoma30.2TSC2, TSC1, MTOR
8astrocytoma30.2VIM, TSC2, TSC1
9sarcoma30.1ACTC1, MTOR, VIM, DES
10melanoma30.0ACTC1, MTOR, TSC2, VIM, DES
11neurofibromatosis30.0TSC1, TSC2
12synovial sarcoma29.9DES, VIM
13polycystic kidney disease29.9TSC2, MTOR
14rhabdomyosarcoma29.8DES, VIM, ACTC1
15hepatitis11.0
16hepatic angiomyolipoma10.9
17renal cell carcinoma10.7
18hepatocellular carcinoma10.5
19aneurysm10.3
20childhood kidney angiomyolipoma10.2
21papillary renal cell carcinoma10.2
22pulmonary embolism10.2
23epithelioid type angiomyolipoma10.1
24hemangioma10.1
25mediastinitis10.1
26clear cell renal cell carcinoma10.1
27infantile myofibromatosis10.1DES
28alexander disease10.1DES
29secretory meningioma10.1VIM
30adenomatoid tumor10.1VIM
31leiomyomatosis10.1PGR
32ductal carcinoma in situ10.1PGR
33ganglioglioma10.1TSC2, TSC1
34infantile epileptic encephalopathy10.1TSC1, TSC2
35cowden disease10.1TSC1, TSC2
36fasciitis10.1ACTC1
37mesenchymal chondrosarcoma10.1DES, VIM
38alveolar soft part sarcoma10.1VIM, DES
39granular cell tumor10.1DES, VIM
40microphthalmia10.1
41intussusception10.1
42duodenitis10.1
43pancreatitis10.1
44renal oncocytoma10.1
45pheochromocytoma10.1
46horseshoe kidney10.1
47tsc2 angiomyolipomas, renal, modifier of10.1
48blindness10.1
49chordoma10.1VIM, DES
50ependymoma10.1TSC2, VIM

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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Angiomyolipoma

Drug clinical trials:

Search ClinicalTrials for Angiomyolipoma

Search NIH Clinical Center for Angiomyolipoma

Search CenterWatch for Angiomyolipoma

Genetic Tests for Angiomyolipoma

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Anatomical Context for Angiomyolipoma

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34MalaCards
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MalaCards organs/tissues related to Angiomyolipoma:

34
Kidney, Liver, Lung, Smooth muscle, Colon, Tongue, Small intestine, Breast, Lymph node, Adrenal gland, T cells, Testes, Ovary, Skin, Adipocyte, Thyroid, Bone

Animal Models for Angiomyolipoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Angiomyolipoma:

38
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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Sources:
53PubMed
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Articles related to Angiomyolipoma:

(show top 50)    (show all 631)
idTitleAuthorsYear
1
Renal angiomyolipoma and lymphangioleiomyomatosis in pregnancy. (23919845)
2013
2
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
3
A rare benign parotid gland tumor: angiomyolipoma. (24220485)
2013
4
Immunohistochemical character of hepatic angiomyolipoma: for its management. (23864864)
2013
5
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
6
Radiologic-pathologic correlation in liver angiomyolipoma in a 68-year-old woman. (24054810)
2013
7
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
8
Angiomyolipoma with minimal fat and non-clear cell renal cell carcinoma: differentiation on MDCT using classification and regression tree analysis-based algorithm. (24259298)
2013
9
Renal angiomyolipoma - sarcomatous transformation and cavoatrial extension. (24426695)
2013
10
Renal epithelioid angiomyolipoma: a rare variant with unusual behavior. (23928927)
2013
11
Angiomyolipoma of the liver: analysis of typical features and pitfalls based on own experience and literature. (23465986)
2013
12
Pelvic angiomyolipoma. (21722945)
2012
13
An unusual appearance of renal epithelioid angiomyolipoma. (23112030)
2012
14
Enhancement pattern of angiomyolipoma without visible fat versus that of renal cell carcinoma. (22993224)
2012
15
Robot assisted partial nephrectomy (Da Vinci) in an angiomyolipoma associated to WA1nderlich Syndrome. (23154607)
2012
16
Nephron-sparing resection of angiomyolipoma after sirolimus pretreatment in patients with tuberous sclerosis. (23054313)
2012
17
Imaging findings in myomatous angiomyolipoma of the liver. (22517073)
2012
18
Three trocars laparoscopic resection of angiomyolipoma of the liver. (22135749)
2011
19
Effects of rapamycin on angiomyolipomas in patients with tuberous sclerosis. (21629335)
2011
20
Hepatic angiomyolipoma with a giant hemangioma. (22041879)
2011
21
Angiomyolipoma manifested as accessory kidney mass. (21426896)
2011
22
Transradial embolization of a bleeding renal angiomyolipoma. (21571778)
2011
23
Trends of presentation and clinical outcome of treated renal angiomyolipoma. (20635448)
2010
24
A rare benign laryngeal tumor: angiomyolipoma. (21119467)
2010
25
Hepatic angiomyolipoma and intramural small intestinal schwannoma: a coincidence or a relationship? (19282295)
2010
26
F-18 FDG PET/CT findings in two patients with hepatic angiomyolipoma with and without intratumoral hemorrhage. (20026966)
2010
27
Hemodynamic characterization of hepatic angiomyolipoma with least amount of fat evaluated by contrast-enhanced magnetic resonance angiography. (19319591)
2010
28
Evaluation of renal function of angiomyolipoma patients after selective transcatheter arterial embolization. (19214025)
2009
29
Angiomyolipoma of the colon: report of a case. (19882325)
2009
30
A case report of spontaneous rupture of a renal angiomyolipoma in a post-partum 21-year-old patient. (19219616)
2009
31
Polycythemia vera as a presentation of renal angiomyolipoma: a case report. (19946506)
2009
32
Epithelioid renal angiomyolipoma]. (18592777)
2008
33
Metastatic breast carcinoma to renal angiomyolipomas in tuberous sclerosis. (18308125)
2008
34
Sclerosing variant of epithelioid angiomyolipoma. (18429830)
2008
35
Malignant epithelioid angiomyolipoma of the kidney in a patient with tuberous sclerosis: an autopsy case report with p53 gene mutation analysis. (18547741)
2008
36
Expression of the neural stem cell markers NG2 and L1 in human angiomyolipoma: are angiomyolipomas neoplasms of stem cells? (17592550)
2007
37
Renal angiomyolipoma with a minimal fatty component mimicking renal cell carcinoma. (17703839)
2007
38
Hepatic angiomyolipoma: identification of an efferent vessel to be hepatic vein by contrast-enhanced harmonic ultrasound. (16177023)
2005
39
Renal epithelioid angiomyolipoma--a close mimic of renal cell carcinoma. Report of a case and review of the literature. (15792132)
2005
40
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
41
Growth of hepatic angiomyolipoma indicating malignant potential. (15482547)
2004
42
Loss of calponin h1 in renal angiomyolipoma correlates with aggressive clinical behavior. (15351572)
2004
43
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. (12711473)
2003
44
Melanoma markers in angiomyolipoma of the liver and kidney: a comparative study. (11800647)
2002
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Angiomyolipoma

Search GEO for disease gene expression data for Angiomyolipoma.

Pathways for genes affiliated with Angiomyolipoma

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Sources:
51PathCards, 5Cell Signaling Technology, 39NCBI BioSystems Database, 61Thomson Reuters, 56Reactome, 54QIAGEN, 31KEGG, 55R&D Systems, 13EMD Millipore
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Pathways related to Angiomyolipoma according to GeneCards/GeneDecks:

(show all 24)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TSC2, TSC1
2
Show member pathways
Signaling by Aurora kinases39
Aurora C signaling39
9.6VIM, DES
39.5MTOR, TSC2
4
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors61
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 Glioblastoma39
9.1MTOR, TSC1, TSC2
9
Show member pathways
Transcription Receptor mediated HIF regulation61
Development CNTF receptor signaling61
Class IB PI3K non-lipid kinase events39
ErbB2/ErbB3 signaling events39
Development Growth hormone signaling via PI3K AKT and MAPK cascades61
Translation Regulation activity of EIF261
Regulation of lipid metabolism Insulin signaling generic cascades61
Transcription PPAR Pathway61
Cell adhesion PLAU signaling61
Translation Regulation activity of EIF4F61
9.1TSC2, TSC1, MTOR
109.1MTOR, TSC1, TSC2
119.1TSC2, TSC1, MTOR
129.1MTOR, TSC1, TSC2
13
Show member pathways
Prostate Cancer39
Integrated Cancer pathway39
Steroid Biosynthesis39
9.1TSC2, TSC1, MTOR
149.1MTOR, TSC1, TSC2
159.1MTOR, TSC1, TSC2
16
Show member pathways
mTOR signaling pathway39
9.1TSC2, TSC1, MTOR
179.1TSC2, TSC1, MTOR
18
Show member pathways
Immune response IL 4 signaling pathway61
Signal transduction AKT signaling61
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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Sources:
46Novoseek, 25HMDB, 12DrugBank, 30IUPHAR, 52PharmGKB, 62Tocris Bioscience
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Compounds related to Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1toluidine469.9DES, VIM
2phalloidin469.8DES, VIM
3guanosine46 25 1211.7TSC1, TSC2, VIM
4gemfibrozil30 46 1211.7VIM, DES
5bezafibrate46 30 1211.6VIM, DES
6taxane469.6PGR, MTOR
7everolimus46 52 1211.6TSC2, TSC1, MTOR
82-methoxyethanol469.5ACTC1, VIM
9spec-t469.5PGR, TSC1
10progestin469.5VIM, PGR, DES
11adriamycin469.5VIM, PGR, DES
12dihydrotestosterone46 30 25 1212.5VIM, PGR, DES
13okadaic acid46 6210.3MTOR, TSC2, VIM
14orcein469.2DES, VIM, ACTC1
15s 100469.2ACTC1, VIM, DES
16reticulin469.2DES, VIM, ACTC1
17mucicarmine469.2ACTC1, VIM, DES
18b 723469.2ACTC1, VIM, DES
1912-o-tetradecanoylphorbol 13-acetate469.2MTOR, VIM, DES
20hematoxylin469.2ACTC1, VIM, DES
21actomyosin469.2ACTC1, VIM
22procollagen469.2DES, VIM, ACTC1
23biotin46 25 1211.2DES, VIM, ACTC1
24formaldehyde46 2510.1ACTC1, VIM, DES
25adenylate469.1DES, PGR, VIM, TSC2
26phosphoinositide469.1VIM, TSC2, TSC1, MTOR
27tamoxifen46 52 30 1212.1MTOR, VIM, PGR
28threonine469.0DES, TSC2, TSC1, MTOR
29imatinib46 52 1211.0DES, MTOR, ACTC1
30arginine468.9DES, VIM, TSC2, MTOR
31doxorubicin46 52 1210.9DES, PGR, VIM, MTOR
32estradiol46 25 1210.9DES, PGR, VIM, MTOR
33matrigel468.8ACTC1, MTOR, VIM
34wortmannin468.7MTOR, TSC2, VIM
35cysteine468.7DES, PGR, VIM, CCL26
36atp46 309.6VIM, TSC2, CCL26, MTOR
37progesterone46 30 62 25 1212.6DES, PGR, VIM, ACTC1
38rapamycin468.6VIM, TSC2, TSC1, CCL26, MTOR
39serine468.6MTOR, TSC1, TSC2, VIM, DES
40dexamethasone46 52 30 1211.4PGR, VIM, MTOR, ACTC1
41glucose468.3DES, TSC2, TSC1, MTOR, ACTC1
42tyrosine468.2DES, TSC2, TSC1, MTOR, ACTC1
43steroid468.1DES, PGR, TSC2, MTOR, ACTC1
44oxygen46 259.1DES, TSC2, CCL26, MTOR, ACTC1
45retinoic acid46 259.0DES, PGR, VIM, MTOR, ACTC1
46paraffin468.0DES, PGR, VIM, TSC2, TSC1, ACTC1
47glycogen46 258.9DES, VIM, TSC2, TSC1, MTOR, ACTC1
48testosterone46 62 25 1210.7DES, PGR, VIM, TSC2, MTOR, ACTC1
49estrogen467.7ACTC1, MTOR, TSC2, VIM, PGR, DES
50vegf467.4ACTC1, DES, PGR, VIM, TSC2, TSC1

GO Terms for genes affiliated with Angiomyolipoma

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17Gene Ontology
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Cellular components related to Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:0335969.7TSC1, TSC2
2actin filamentGO:0058849.3ACTC1, TSC1
3cytosolGO:0058297.1DES, VIM, TSC2, TSC1, MTOR, ACTC1

Biological processes related to Angiomyolipoma according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of TOR signalingGO:0320079.9TSC1, TSC2
2cell projection organizationGO:0300309.8TSC1, TSC2
3neural tube closureGO:0018439.8TSC1, TSC2
4protein heterooligomerizationGO:0512919.7TSC2, TSC1
5regulation of protein kinase activityGO:0458599.6TSC1, MTOR
6negative regulation of cell sizeGO:0457929.4MTOR, TSC1, TSC2
7positive regulation of actin filament polymerizationGO:0308389.3MTOR, CCL26
8insulin receptor signaling pathwayGO:0082869.3TSC2, TSC1, MTOR
9positive regulation of endothelial cell proliferationGO:0019389.0MTOR, CCL26
10muscle filament slidingGO:0300499.0ACTC1, VIM, DES

Products for genes affiliated with Angiomyolipoma

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Sources for Angiomyolipoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet