MCID: ANG018
MIFTS: 52

Angiomyolipoma malady

Summaries for Angiomyolipoma

Sources:
8Disease Ontology, 64Wikipedia, 33MalaCards
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Wikipedia:64 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 p70S6K Signaling and Inhibition of TSC complex formation by PKB. The compounds orcein and monochloroacetic acid have been mentioned in the context of this disorder. Affiliated tissues include skin, ovary and liver, and related mouse phenotypes are muscle and endocrine/exocrine gland.

Disease Ontology:8 A cell type benign neoplasm that from perivascular epithelioid cells.

Aliases & Classifications for Angiomyolipoma

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 40NCIt, 35MeSH, 57SNOMED-CT
See all sources

Aliases & Descriptions:

angiomyolipoma 8 10 45 61


External Ids:

Disease Ontology8 DOID:3314
NCIt40 C3734
SNOMED-CT57 19929002
MeSH35 D018207

Related Diseases for Angiomyolipoma

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 186)
idRelated DiseaseScoreTop Affiliating Genes
1tuberous sclerosis31.2TSC2, TSC1, RHEB, MTOR, CCL26, VIM
2lymphangioleiomyomatosis31.0DES, TSC1, TSC2
3tuberous sclerosis complex30.9TSC2, TSC1
4renal clear cell carcinoma30.3MTOR, S100A1, VIM
5papillary carcinoma30.3ACTC1, PGR, S100A1
6astrocytoma30.2VIM, TSC1, TSC2
7subependymal giant cell astrocytoma30.2TSC2, TSC1, MTOR
8perivascular epithelioid cell tumor30.2TSC2, MITF, RHEB, MLANA
9microphthalmia30.0PMEL, MLANA, TYR, MITF, KIT, ACTC1
10adenoma29.8S100A1, ACTC1, TSC1
11myoma29.8PGR
12polycystic kidney disease, autosomal dominant29.8MTOR, TSC1, TSC2
13neurofibromatosis29.8TSC2, TSC1, KIT
14synovial sarcoma29.8VIM, DES, KIT
15polycystic kidney disease29.8TSC2, MTOR
16hepatic angiomyolipoma10.9
17clear cell renal cell carcinoma10.2
18papillary renal cell carcinoma10.2
19childhood kidney angiomyolipoma10.2
20papillary renal carcinoma10.2
21epithelioid type angiomyolipoma10.1
22small cell carcinoma10.1
23liver inflammatory pseudotumor10.0
24intussusception10.0
25n syndrome10.0
26birt–hogg–dubé syndrome10.0
27pheochromocytoma10.0
28retroperitoneal liposarcoma10.0
29horseshoe kidney10.0
30birt-hogg-dub� syndrome10.0
31tsc2 angiomyolipomas, renal, modifier of10.0
32kidney cancer10.0MTOR
33leiomyomatosis10.0PGR
34pneumothorax10.0TSC1
35esophagitis10.0CCL26
36fasciitis10.0ACTC1
37infantile myofibromatosis10.0DES
38hemangioma10.0ACTC1
39uterine carcinosarcoma10.0KIT
40syringoma10.0S100A1
41albinism10.0TYR
42sertoli-leydig cell tumor10.0PGR
43papilloma10.0ACTC1
44lung cancer10.0MTOR
45endometrial carcinoma10.0PGR
46anaplastic large cell lymphoma10.0PTPRC
47thymoma10.0PTPRC
48ductal carcinoma in situ10.0PGR
49oculocutaneous albinism10.0TYR
50arthritis10.0IFNG

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to angiomyolipoma

Clinical Features for Angiomyolipoma

Drugs & Therapeutics for Angiomyolipoma

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Angiomyolipoma

Sources:
33MalaCards
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MalaCards organs/tissues related to Angiomyolipoma:

33
Skin, Ovary, Liver, Tongue, Kidney, Lymph node, Lung, Smooth muscle, Skeletal muscle, Small intestine, Colon, Adipocyte, Thyroid, Adrenal gland, Breast, T cells

Animal Models for Angiomyolipoma or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Angiomyolipoma:

37 (show all 21)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000536910.6ACTC1, RHEB, TSC1, RRAD
2MP:000537910.5IFNG, RPS6KB1, KIT, TYR
3MP:000538010.4VIM, RHEB, TYR, PGR, TSC1, TSC2
4MP:001077110.4PMEL, TYR, MITF, TSC1, TSC2
5MP:000538910.4MITF, TSC1, TSC2, TYR, RPS6KB1
6MP:000118610.3MITF, MLANA, PMEL
7MP:000200610.3PTPRC, RPS6KB1, IFNG, PGR, TSC2, KIT
8MP:000301210.2PMEL, IFNG, MLANA, MTOR, TYR, PGR
9MP:000539010.2PGR, MTOR, TYR, MITF, KIT, IFNG
10MP:000287310.1MITF, IFNG, S100A1, MTOR, RHEB, TYR
11MP:000537010.1TSC2, TSC1, PTPRC, KIT, IFNG, RPS6
12MP:000538610.1TSC1, VIM, MTOR, KIT, PGR, TSC2
13MP:000536710.1TSC2, TSC1, PTPRC, KIT, TYR, IFNG
14MP:000363110.1KIT, PTPRC, TSC1, TYR, RHEB
15MP:000538510.0PGR, TYR, DES, RHEB, S100A1, IFNG
16MP:000537810.0IFNG, MITF, TYR, RHEB, MTOR, RPS6KB1
17MP:000538410.0KIT, PGR, TYR, RHEB, MTOR, ACTC1
18MP:000538710.0PTPRC, PGR, KIT, MITF, IFNG, RPS6KB1
19MP:001076810.0PTPRC, RPS6KB1, DES, TYR, MITF, PGR
20MP:00053769.8TYR, RPS6KB1, TSC1, TSC2, RPS6, VIM
21MP:00053979.6PMEL, RPS6KB1, IFNG, MTOR, MITF, PGR

Publications for Angiomyolipoma

Sources:
51PubMed
See all sources

Articles related to Angiomyolipoma:

(show top 50)    (show all 640)
idTitleAuthorsYear
1
Minimal fat renal angiomyolipoma with central scar and stellate calcification mimicking a calyceal calculus. (24276108)
2013
2
Giant renal angiomyolipoma: unusual cause of huge abdominal mass. (24404415)
2013
3
Adrenal angiomyolipoma. (24034195)
2013
4
Malignant epithelioid angiomyolipoma: tumor and metabolic response to everolimus as evaluated with positron emission tomography. (23791549)
2013
5
Multiphasic enhancement patterns of small renal masses (a8o4 cm) on preoperative computed tomography: utility for distinguishing subtypes of renal cell carcinoma, angiomyolipoma, and oncocytoma. (23601445)
2013
6
Are there useful CT features to differentiate renal cell carcinoma from lipid-poor renal angiomyolipoma? (24147472)
2013
7
Renal epithelioid angiomyolipoma with a negative premelanosome marker immunoprofile: a case report and review of the literature. (23628229)
2013
8
Renal angiomyolipomatosis in a patient with tuberous sclerosis complex. (23329808)
2013
9
Pelvic angiomyolipoma. (21722945)
2012
10
Epithelioid angiomyolipoma presenting as an urothelial. (22971767)
2012
11
Fat poor angiomyolipoma with lymphadenopathy: Diagnostic dilemma. (22629015)
2012
12
Small (<4 cm) renal mass: differentiation of angiomyolipoma without visible fat from renal cell carcinoma utilizing MR imaging. (22344404)
2012
13
Renal angiomyolipoma. (22382238)
2012
14
Giant adrenal angiomyolipoma. (22918873)
2012
15
Three trocars laparoscopic resection of angiomyolipoma of the liver. (22135749)
2011
16
A case of angiomyolipoma of the renal sinus. (21847520)
2011
17
Renal epithelioid angiomyolipoma: a malignant disease. (20349413)
2011
18
Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. (21915260)
2011
19
Epithelioid angiomyolipoma of kidney with atypical nuclear features and intranuclear inclusions on cytology. (20607806)
2011
20
F-18 FDG PET/CT findings in two patients with hepatic angiomyolipoma with and without intratumoral hemorrhage. (20026966)
2010
21
Traumatic rupture of bilateral huge renal angiomyolipomas in tuberous sclerosis complex. (20699763)
2010
22
Aneurysm formation in an angiomyolipoma during bevacizumab combination therapy. (20230212)
2010
23
Leiomyomatous angiomyolipoma of kidney. (19472124)
2009
24
Cutaneous angiomyolipoma. (19332927)
2009
25
Incidental angiomyolipoma resected during renal surgery for an enhancing renal mass. (19519761)
2009
26
Hepatic Angiomyolipoma with Minimal Intratumoral Fat Content. (21103249)
2009
27
Epithelioid angiomyolipoma associated with a classic angiomyolipoma. (19796467)
2009
28
Embolization of renal angiomyolipoma in pregnancy: case report. (19642603)
2009
29
Homozygous structural rearrangement 16p13: a mechanism of tumorigenesis in sporadic renal angiomyolipoma? (19288555)
2009
30
Clinical correlates of renal angiomyolipoma subtypes in 209 patients: classic, fat poor, tuberous sclerosis associated and epithelioid. (18635231)
2008
31
Angiomyolipoma of the anterior mediastinum. (18620999)
2008
32
Hormone receptor expression in renal angiomyolipoma: clinicopathologic correlation. (18374399)
2008
33
Renal angiomyolipoma with a minimal fatty component mimicking renal cell carcinoma. (17703839)
2007
34
Combined nephrectomy and pre-emptive renal transplantation in a tuberous sclerosis patient with angiomyolipoma, renal carcinoma and life-threatening abdominal haemorrhages. (17717027)
2007
35
Renal cell carcinoma arising in a long pre-existing angiomyolipoma. (17295650)
2007
36
False-positive 123I-metaiodobenzylguanidine (MIBG) scan in a patient with angiomyolipoma; positive MIBG scan does not necessarily indicate the presence of pheochromocytoma. (17938527)
2007
37
Angiomyolipoma of the larynx: case report. (17053927)
2007
38
Spontaneous hemorrhage from renal angiomyolipoma presenting with fever of unknown origin. (17541239)
2007
39
Sporadic oral angiomyolipoma. Case report. (17767105)
2007
40
Increasing severity of haematuria with successive pregnancies in a woman with renal angiomyolipoma. (17171420)
2007
41
Laparoscopic cryoablation of renal angiomyolipoma. (16952669)
2006
42
Retroperitoneal lipomatous angiomyolipoma associated with amyloid deposition masquerading as well-differentiated liposarcoma. (16984623)
2006
43
Renal epithelioid angiomyolipoma--a close mimic of renal cell carcinoma. Report of a case and review of the literature. (15792132)
2005
44
Interferon-gamma-Jak-Stat signaling in pulmonary lymphangioleiomyomatosis and renal angiomyolipoma: a potential therapeutic target. (15994429)
2005
45
Spontaneous rupture of renal angiomyolipoma: value of multidetector CT angiography for interventional therapy. (16317570)
2005
46
US power Doppler of hepatic angiomyolipoma with low fat content. (10879706)
2000
47
Nuclear pseudoinclusions in fine-needle aspiration cytology of hepatic angiomyolipoma: case report. (10820535)
2000
48
Angiomyolipoma of the large intestine: report of a case. (10619265)
1999
49
Angiomyolipoma of the left ureterovesical junction associated with ipsilateral renal agenesis. (7752345)
1995
50
Hepatic angiomyolipoma. (7820028)
1994

Genetic Variations for Angiomyolipoma

Expression for genes affiliated with Angiomyolipoma

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
52QIAGEN, 54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 53R&D Systems, 4Cell Signaling Technology
See all sources

Pathways related to Angiomyolipoma according to GeneCards/GeneDecks:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4RHEB
210.4TSC2, TSC1
310.3TSC2, TSC1, MTOR
410.3TSC2, TSC1, RPS6KB1
5
Hide members
10.3ACTC1, DES, VIM
6
Transcription Androgen Receptor nuclear signaling
Hide members
10.3RPS6KB1, MTOR, TSC2
710.3MTOR, IFNG, RPS6KB1
810.3MTOR, CCL26, RPS6KB1
9
Hide members
10.3RHEB, MTOR, RPS6KB1
10
Hide members
10.3KIT, MITF, RPS6KB1
1110.3RPS6KB1, RPS6, MTOR
1210.3MTOR, RPS6, RPS6KB1
13
Hide members
10.3IFNG, RPS6, RPS6KB1
1410.3RPS6KB1, RPS6, IFNG
1510.3RPS6KB1, MTOR, TSC1, TSC2
16
Hide members
10.3MTOR, MITF, TSC1, TSC2
17
Hide members
10.3MTOR, PGR, KIT, TSC2
1810.3MTOR, RHEB, TSC1, TSC2
1910.3MTOR, RHEB, TSC1, TSC2
20
Translation Translation regulation by Alpha-1 adrenergic receptors
Hide members
10.2TSC2, RHEB, MTOR, RPS6KB1
21
Development Endothelin-1/EDNRA signaling
Hide members
10.2RPS6KB1, MTOR, RHEB, TSC2
2210.2RPS6KB1, RPS6, MTOR, TSC2
2310.2RPS6KB1, RPS6, IFNG, MTOR
24
Hide members
10.2RPS6KB1, VIM, KIT, TSC1, TSC2
25
Hide members
10.2TSC2, TSC1, KIT, CCL26, RPS6KB1
26
Hide members
10.2RPS6KB1, RPS6, MTOR, RHEB
2710.2RPS6KB1, MTOR, RHEB, TSC1, TSC2
2810.2RPS6KB1, MTOR, RHEB, TSC1, TSC2
2910.2RPS6KB1, RPS6, MTOR, TSC1, TSC2
30
Hide members
10.2RPS6KB1, MTOR, RHEB, KIT, TSC2
31
Hide members
10.2RPS6KB1, RPS6, CCL26, IFNG, KIT
3210.2RPS6KB1, RPS6, MTOR, RHEB, TSC2
3310.1RPS6KB1, MTOR, RHEB, RRAD, TSC1, TSC2
34
Hide members
10.1RPS6KB1, RPS6, MTOR, RHEB, TSC1, TSC2
35
Hide members
10.1RPS6KB1, RPS6, MTOR, RHEB, TSC1, TSC2
36
Translation Insulin regulation of translation
Hide members
10.1RPS6KB1, RPS6, MTOR, RHEB, TSC1, TSC2
37
Hide members
10.1TSC2, TSC1, RHEB, MTOR, RPS6, RPS6KB1
38
Hide members
10.1VIM, CCL26, RHEB, DES, KIT, TSC1
3910.0RPS6KB1, RPS6, MTOR, RHEB, KIT, TSC1
40
Hide members
10.0RPS6KB1, RPS6, MTOR, RHEB, PGR, KIT

Compounds for genes affiliated with Angiomyolipoma

Sources:
45Novoseek, 50PharmGKB, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Angiomyolipoma according to GeneCards/GeneDecks:

(show top 50)    (show all 70)
idCompoundScoreTop Affiliating Genes
1orcein4510.7DES, ACTC1, VIM
2monochloroacetic acid4510.7PTPRC, KIT, VIM
3s 1004510.7DES, ACTC1, VIM
4mucicarmine4510.7VIM, S100A1, DES, ACTC1
5dopachrome4510.6TYR, PMEL, MITF
6dexamethasone45 50 29 1113.6PTPRC, RPS6KB1, MTOR, TYR
7b 7234510.6PTPRC, DES, S100A1, VIM, ACTC1
8toluidine4510.6PTPRC, VIM, S100A1, DES, KIT
92-methoxyethanol4510.6ACTC1, VIM, S100A1
10glucose4510.6RRAD, RHEB, TSC1, ACTC1, TSC2
11reticulin4510.6ACTC1, DES, VIM
12everolimus50 45 1112.6KIT, RPS6KB1, MTOR
13cycloheximide4510.6TYR
14formaldehyde45 2411.5VIM, DES, KIT, ACTC1, TYR, PTPRC
15resveratrol45 60 11 2413.5RPS6KB1, RPS6, MTOR, PGR, TYR
16fluorochrome4510.5VIM, KIT, PTPRC
17imatinib45 50 1112.5MTOR, KIT, ACTC1, DES, RPS6
18tacrolimus45 50 1112.5PGR, MTOR, IFNG, RPS6KB1, MITF
1912-o-tetradecanoylphorbol 13-acetate4510.5DES, MTOR, VIM, RPS6KB1, MITF, PTPRC
20dmso4510.5RPS6KB1, VIM, TYR, PGR, PTPRC
21hematoxylin4510.5DES, KIT, ACTC1, PTPRC, S100A1, VIM
22doxorubicin45 50 1112.5VIM, MTOR, DES, TYR, PGR, KIT
23phosphoinositide4510.5TSC2, RPS6KB1, VIM, MTOR, RHEB, KIT
24steroid4510.5MLANA, DES, TSC2, ACTC1, MTOR
25genistein45 29 60 2 11 2415.5RPS6KB1, IFNG, MTOR, TYR, PTPRC, PGR
26serine4510.5TYR, DES, TSC1, TSC2, RRAD, RPS6
27silver4510.5DES, S100A1, PMEL, MITF
28glycogen45 2411.5TSC1, MTOR, RPS6, RPS6KB1, TSC2, KIT
29biotin45 11 2412.4ACTC1, DES, S100A1, VIM
30leucine4510.4RPS6KB1, KIT, MITF, MTOR, VIM, RPS6
31paclitaxel45 50 1112.4RPS6KB1, PGR, TYR
32testosterone45 60 11 2413.4VIM, MTOR, KIT, TSC2, DES, PGR
33arginine4510.4MITF, TSC2, RHEB, VIM, IFNG, MTOR
34progesterone45 60 29 11 2414.4VIM, DES, S100A1, KIT, PGR, ACTC1
35methionine4510.4RPS6, KIT, DES, VIM, PTPRC
36oxygen45 2411.4RPS6KB1, MITF, TSC2, CCL26, MTOR, DES
37threonine4510.4MTOR, DES, RRAD, KIT, PTPRC, TSC1
38kojic acid4510.3TYR, MITF
39cysteine4510.3CCL26, PGR, KIT, TYR, DES, S100A1
40rapamycin4510.3KIT, RHEB, MTOR, TSC1, RPS6KB1, TSC2
41phosphatidylinositol4510.3MTOR, KIT, PTPRC, TSC1, RPS6KB1, TSC2
42retinoic acid45 2411.3VIM, RPS6KB1, RPS6, IFNG, DES, KIT
43vegf4510.3RPS6, VIM, IFNG, MTOR, DES, RPS6KB1
44paraffin4510.2VIM, S100A1, MLANA, DES, TYR, ACTC1
45wortmannin4510.2VIM, RPS6, TSC2, RPS6KB1, MTOR
46tyrosine4510.2KIT, MITF, MTOR, RPS6KB1, RPS6, S100A1
47atp45 2911.1CCL26, MTOR, KIT, VIM, RPS6, TSC2
48calcium45 50 11 2413.1S100A1, DES, MTOR, RRAD, KIT, ACTC1
49ly2940024510.1TSC2, TYR, MTOR, RPS6, RPS6KB1
50actomyosin4510.0VIM, S100A1, ACTC1

GO Terms for genes affiliated with Angiomyolipoma

Sources:
16Gene Ontology
See all sources

Cellular components related to Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1TSC1-TSC2 complexGO:03359610.3TSC2, TSC1
2melanosomeGO:04247010.3TYR, MLANA, PMEL
3cytosolGO:0058299.7RPS6KB1, RPS6, VIM, MTOR, RHEB, DES

Biological processes related to Angiomyolipoma according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1negative regulation of cell sizeGO:04579210.5MTOR, TSC1, TSC2
2TOR signaling cascadeGO:03192910.4MTOR, RPS6, RPS6KB1
3cell cycle arrestGO:00705010.3IFNG, RHEB, TSC1, TSC2
4insulin receptor signaling pathwayGO:00828610.3TSC2, TSC1, RHEB, MTOR, RPS6, RPS6KB1
5phosphatidylinositol-mediated signalingGO:04801510.3TSC2, KIT, MTOR, RPS6KB1
6muscle filament slidingGO:03004910.2VIM, DES, ACTC1
7signal transductionGO:00716510.1KIT, PGR, RHEB, MTOR, CCL26, RPS6KB1
8positive regulation of tyrosine phosphorylation of Stat1 proteinGO:04251110.1KIT, IFNG

Molecular functions related to Angiomyolipoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein bindingGO:0055159.4TSC2, RPS6KB1, RPS6, VIM, S100A1, MLANA

Products for genes affiliated with Angiomyolipoma

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Angiomyolipoma

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet