MCID: ANG018
MIFTS: 52

Angiomyolipoma malady

Cancer diseases category
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Summaries for Angiomyolipoma

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Wikipedia:65 Angiomyolipomas are the most common benign tumour of the kidney and are composed of blood vessels,... more...

MalaCards based summary: Angiomyolipoma is related to tuberous sclerosis complex 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:8 A cell type benign neoplasm that from perivascular epithelioid cells.

Aliases & Classifications for Angiomyolipoma

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 34MeSH, 39NCIt, 57SNOMED-CT
See all sources

Angiomyolipoma, Aliases & Descriptions:

Name: Angiomyolipoma 8 10 44 62


Classifications:

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


External Ids:

Disease Ontology8 DOID:3314
MeSH34 D018207
SNOMED-CT57 19929002
NCIt39 C3734

Related Diseases for Angiomyolipoma

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

(show top 50)    (show all 142)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis complex31.6TSC1, TSC2
2lymphangioleiomyomatosis31.4TSC2, DES, TSC1
3perivascular epithelioid cell tumor31.1TSC2
4kidney angiomyolipoma30.9TSC2, MTOR, TSC1
5tuberous sclerosis30.8VIM, TSC2, TSC1, CCL26, MTOR
6liposarcoma30.6VIM, DES
7subependymal giant cell astrocytoma30.5MTOR, TSC2, TSC1
8astrocytoma30.5TSC1, VIM, TSC2
9neurofibromatosis30.3TSC1, TSC2
10synovial sarcoma30.2DES, VIM
11polycystic kidney disease30.1MTOR, TSC2
12rhabdomyosarcoma29.8ACTC1, VIM, DES
13sarcoma29.7ACTC1, DES, VIM, MTOR
14melanoma29.5VIM, DES, TSC2, ACTC1, MTOR
15hepatitis11.0
16hepatic angiomyolipoma11.0
17renal cell carcinoma10.7
18hepatocellular carcinoma10.5
19infantile myofibromatosis10.5DES
20alexander disease10.5DES
21secretory meningioma10.4VIM
22adenomatoid tumor10.4VIM
23leiomyomatosis10.4PGR
24ductal carcinoma in situ10.4PGR
25ganglioglioma10.4TSC1, TSC2
26infantile epileptic encephalopathy10.3TSC2, TSC1
27cowden disease10.3TSC2, TSC1
28aneurysm10.3
29fasciitis10.3ACTC1
30mesenchymal chondrosarcoma10.3DES, VIM
31alveolar soft part sarcoma10.3DES, VIM
32childhood kidney angiomyolipoma10.3
33granular cell tumor10.3DES, VIM
34kidney cancer10.2MTOR
35chordoma10.2VIM, DES
36ependymoma10.2VIM, TSC2
37oxyphilic adenoma10.2TSC1, VIM
38malignant mixed mullerian tumor10.2VIM, PGR
39phyllode tumor10.2PGR, VIM
40papillary renal cell carcinoma10.2
41mediastinitis10.2
42pulmonary embolism10.2
43clear cell renal cell carcinoma10.2
44hemangioma10.2
45epithelioid type angiomyolipoma10.2
46uterine fibroid10.1DES, PGR
47cystic kidney10.1TSC1, TSC2, CCL26
48desmoid tumor10.1DES, ACTC1
49malignant mesothelioma10.1VIM, DES
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:

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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:

32
Kidney, Liver, Lung, Smooth muscle, Colon, Small intestine, Tongue, Lymph node, Adrenal gland, Breast, Bone, Adipocyte, Thyroid, Skin, Ovary, Testes, T cells

Animal Models for Angiomyolipoma or affiliated genes

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MGI Mouse Phenotypes related to Angiomyolipoma:

36
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 654)
idTitleAuthorsYear
1
A giant renal angiomyolipoma (AML) in a patient with septo-optic dysplasia (SOD). (25199882)
2014
2
Spontaneous rupture of renal angiomyolipoma during pregnancy. (25184352)
2014
3
Renal angiomyolipoma and lymphangioleiomyomatosis in pregnancy. (23919845)
2013
4
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
5
A rare benign parotid gland tumor: angiomyolipoma. (24220485)
2013
6
Immunohistochemical character of hepatic angiomyolipoma: for its management. (23864864)
2013
7
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
8
Radiologic-pathologic correlation in liver angiomyolipoma in a 68-year-old woman. (24054810)
2013
9
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
10
Angiomyolipoma with minimal fat and non-clear cell renal cell carcinoma: differentiation on MDCT using classification and regression tree analysis-based algorithm. (24259298)
2013
11
Renal angiomyolipoma - sarcomatous transformation and cavoatrial extension. (24426695)
2013
12
Renal epithelioid angiomyolipoma: a rare variant with unusual behavior. (23928927)
2013
13
Angiomyolipoma of the liver: analysis of typical features and pitfalls based on own experience and literature. (23465986)
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
Renal epithelioid angiomyolipoma--a close mimic of renal cell carcinoma. Report of a case and review of the literature. (15792132)
2005
42
Conservative management of pulmonary lymphangioleiomyomatosis and tuberous sclerosis complicated by renal angiomyolipomas in pregnancy. (15209123)
2004
43
Growth of hepatic angiomyolipoma indicating malignant potential. (15482547)
2004
44
Loss of calponin h1 in renal angiomyolipoma correlates with aggressive clinical behavior. (15351572)
2004
45
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. (12711473)
2003
46
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
47
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. (10631194)
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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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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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 kinases37
Aurora C signaling37
9.6VIM, DES
39.5MTOR, TSC2
4
Show member pathways
Development Activation of ERK by Alpha 1 adrenergic receptors60
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 Glioblastoma37
9.1MTOR, TSC1, TSC2
9
Show member pathways
Transcription Receptor mediated HIF regulation60
Development CNTF receptor signaling60
Class IB PI3K non-lipid kinase events37
ErbB2/ErbB3 signaling events37
Development Growth hormone signaling via PI3K AKT and MAPK cascades60
Translation Regulation activity of EIF260
Regulation of lipid metabolism Insulin signaling generic cascades60
Transcription PPAR Pathway60
Cell adhesion PLAU signaling60
Translation Regulation activity of EIF4F60
9.1TSC2, TSC1, MTOR
109.1MTOR, TSC1, TSC2
119.1TSC2, TSC1, MTOR
129.1MTOR, TSC1, TSC2
13
Show member pathways
Prostate Cancer37
Integrated Cancer pathway37
Steroid Biosynthesis37
9.1TSC2, TSC1, MTOR
149.1MTOR, TSC1, TSC2
159.1MTOR, TSC1, TSC2
16
Show member pathways
mTOR signaling pathway37
9.1TSC2, TSC1, MTOR
179.1TSC2, TSC1, MTOR
18
Show member pathways
Immune response IL 4 signaling pathway60
Signal transduction AKT signaling60
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/GeneDecks:

(show top 50)    (show all 60)
idCompoundScoreTop Affiliating Genes
1toluidine449.9VIM, DES
2phalloidin449.8DES, VIM
3guanosine44 24 1111.7VIM, TSC2, TSC1
4gemfibrozil28 44 1111.7VIM, DES
5bezafibrate44 28 1111.6DES, VIM
6taxane449.6PGR, MTOR
7everolimus44 50 1111.6TSC2, MTOR, TSC1
82-methoxyethanol449.5ACTC1, VIM
9spec-t449.5PGR, TSC1
10progestin449.5DES, PGR, VIM
11adriamycin449.5PGR, VIM, DES
12dihydrotestosterone44 28 24 1112.5DES, PGR, VIM
13okadaic acid44 6110.3VIM, MTOR, TSC2
14orcein449.2VIM, DES, ACTC1
15s 100449.2VIM, ACTC1, DES
16reticulin449.2DES, VIM, ACTC1
17mucicarmine449.2ACTC1, DES, VIM
18b 723449.2ACTC1, DES, VIM
1912-o-tetradecanoylphorbol 13-acetate449.2MTOR, VIM, DES
20hematoxylin449.2ACTC1, DES, VIM
21actomyosin449.2VIM, ACTC1
22procollagen449.2DES, ACTC1, VIM
23biotin44 24 1111.2ACTC1, VIM, DES
24formaldehyde44 2410.1DES, VIM, ACTC1
25adenylate449.1DES, PGR, TSC2, VIM
26phosphoinositide449.1TSC2, TSC1, MTOR, VIM
27tamoxifen44 50 28 1112.1VIM, MTOR, PGR
28threonine449.0DES, TSC1, TSC2, MTOR
29imatinib44 50 1111.0DES, MTOR, ACTC1
30arginine448.9DES, TSC2, MTOR, VIM
31doxorubicin44 50 1110.9DES, PGR, VIM, MTOR
32estradiol44 24 1110.9PGR, VIM, DES, MTOR
33matrigel448.8ACTC1, VIM, MTOR
34wortmannin448.7VIM, MTOR, TSC2
35cysteine448.7CCL26, VIM, DES, PGR
36atp44 289.6CCL26, MTOR, TSC2, VIM
37progesterone44 28 61 24 1112.6ACTC1, DES, PGR, VIM
38rapamycin448.6CCL26, TSC1, MTOR, TSC2, VIM
39serine448.6TSC2, MTOR, DES, TSC1, VIM
40dexamethasone44 50 28 1111.4ACTC1, PGR, VIM, MTOR
41glucose448.3DES, ACTC1, MTOR, TSC2, TSC1
42tyrosine448.2TSC1, TSC2, DES, ACTC1, MTOR
43steroid448.1MTOR, DES, PGR, TSC2, ACTC1
44oxygen44 249.1TSC2, MTOR, CCL26, DES, ACTC1
45retinoic acid44 249.0ACTC1, MTOR, DES, PGR, VIM
46paraffin448.0DES, TSC2, PGR, VIM, TSC1, ACTC1
47glycogen44 248.9ACTC1, TSC1, TSC2, VIM, DES, MTOR
48testosterone44 61 24 1110.7PGR, MTOR, ACTC1, DES, VIM, TSC2
49estrogen447.7TSC2, ACTC1, MTOR, VIM, PGR, DES
50vegf447.4TSC1, DES, PGR, VIM, TSC2, MTOR

GO Terms for genes affiliated with Angiomyolipoma

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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet