Angiomyolipoma disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: ANG018 MIFTS: 49	Angiomyolipoma Categories: Cancer diseases
Genes Tissues Related diseases Publications Pathways Drugs Download Expand all tables

Sources

Aliases & Classifications for Angiomyolipoma

MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma ¹² ⁵⁵ ⁴⁴ ¹⁵ ⁷³

Angiomyolipoma of Kidney ⁷³

Classifications:

MalaCards categories:
Global: Cancer diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:3314

MeSH ⁴⁴ D018207

NCIt ⁵⁰ C3734

SNOMED-CT ⁶⁸ 19929002

UMLS ⁷³ C0206633

Sources

Summaries for Angiomyolipoma

Disease Ontology : ¹² A cell type benign neoplasm that from perivascular epithelioid cells.

MalaCards based summary : Angiomyolipoma, also known as angiomyolipoma of kidney, is related to kidney angiomyolipoma and hepatic angiomyolipoma. An important gene associated with Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are ERK Signaling and Pathways in cancer. The drugs Afinitor and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and breast, and related phenotypes are cellular and behavior/neurological

Wikipedia : ⁷⁶ Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign,... more...

Sources

Related Diseases for Angiomyolipoma

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

(show top 50) (show all 234)

#	Related Disease	Score	Top Affiliating Genes
1	kidney angiomyolipoma	33.9	MTOR TSC1 TSC2
2	hepatic angiomyolipoma	32.9	KIT MTOR TSC2
3	tuberous sclerosis 1	32.3	CCL26 TSC1 TSC2
4	tuberous sclerosis 2	32.0	MTOR TSC1 TSC2
5	tuberous sclerosis	30.5	CCL26 MTOR TSC1 TSC2
6	horseshoe kidney	30.5	ACTC1 TSC2
7	subependymal giant cell astrocytoma	30.5	MTOR TSC1 TSC2
8	lymphangioleiomyomatosis	30.3	DES ESR1 MTOR PGR TSC1 TSC2
9	lung leiomyoma	30.0	ESR1 PGR
10	autosomal dominant polycystic kidney disease	29.8	MTOR TSC1 TSC2
11	renal cell carcinoma, papillary, 1	28.9	KIT MITF MTOR
12	renal cell carcinoma, nonpapillary	28.7	KIT MITF MTOR TSC1 TSC2
13	perivascular epithelioid cell tumor	28.5	ACTC1 DES KIT PGR TSC2
14	cystic nephroma	28.5	ACTC1 DES KIT PGR
15	leiomyoma	27.5	ACTC1 DES ESR1 KIT PGR
16	childhood kidney angiomyolipoma	12.0
17	epithelioid type angiomyolipoma	11.9
18	multiple endocrine neoplasia, type i	10.9
19	polycystic kidney disease, infantile severe, with tuberous sclerosis	10.9
20	fibroblastic rheumatism	10.8	ACTC1 DES
21	angiolipoma	10.8	ACTC1 DES
22	cutaneous leiomyosarcoma	10.8	ACTC1 DES
23	botryoid rhabdomyosarcoma	10.8	ACTC1 DES
24	spindle cell lipoma	10.8	ACTC1 DES
25	parachordoma	10.8	ACTC1 DES
26	ossifying fibromyxoid tumor	10.8	ACTC1 DES
27	epithelioid leiomyosarcoma	10.8	ACTC1 DES
28	syringocystadenoma papilliferum	10.8	ACTC1 DES
29	adult hepatocellular carcinoma	10.8	TSC1 TSC2
30	congenital fibrosarcoma	10.8	ACTC1 DES
31	pleomorphic liposarcoma	10.7	ACTC1 DES
32	ischemic fasciitis	10.7	ACTC1 DES
33	multilocular clear cell renal cell carcinoma	10.7	TSC1 TSC2
34	reticulum cell sarcoma	10.7	ACTC1 DES
35	hepatitis	10.7
36	dedifferentiated liposarcoma	10.7	ACTC1 DES
37	cutaneous fibrous histiocytoma	10.7	ACTC1 DES
38	lissencephaly with cerebellar hypoplasia	10.7	TSC1 TSC2
39	glomus tumor	10.7	ACTC1 DES
40	lymphangiomatosis	10.7	DES PGR
41	spindle cell sarcoma	10.7	ACTC1 DES
42	non-langerhans-cell histiocytosis	10.7	ACTC1 DES
43	pseudosarcomatous fibromatosis	10.6	ACTC1 DES
44	pyogenic granuloma	10.6	ACTC1 MTOR
45	calcifying aponeurotic fibroma	10.6	ACTC1 PGR
46	epulis	10.6	DES PGR
47	bizarre leiomyoma	10.6	ACTC1 PGR
48	myxoid leiomyosarcoma	10.6	ACTC1 PGR
49	angiomatosis	10.6	CCL26 TSC2
50	plasmablastic lymphoma	10.6	DES MTOR

Graphical network of the top 20 diseases related to Angiomyolipoma:

Sources

Symptoms & Phenotypes for Angiomyolipoma

MGI Mouse Phenotypes related to Angiomyolipoma:

⁴⁶ (show all 17)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cellular	MP:0005384	10.25	ACTC1 KIT DES ESR1 MITF TSC1
2	behavior/neurological	MP:0005386	10.22	KIT DES ESR1 MITF TSC1 MTOR
3	cardiovascular system	MP:0005385	10.21	ACTC1 KIT DES ESR1 TSC1 MTOR
4	homeostasis/metabolism	MP:0005376	10.19	ACTC1 KIT DES ESR1 MITF TSC1
5	embryo	MP:0005380	10.14	KIT ESR1 MITF TSC1 MTOR PGR
6	endocrine/exocrine gland	MP:0005379	10.13	KIT ESR1 MITF TSC1 MTOR PGR
7	mortality/aging	MP:0010768	10.13	ACTC1 KIT DES ESR1 MITF TSC1
8	growth/size/body region	MP:0005378	10.11	ESR1 ACTC1 KIT MITF MTOR TSC1
9	integument	MP:0010771	10.02	KIT ESR1 MITF TSC1 TSC2 PGR
10	muscle	MP:0005369	9.95	ACTC1 KIT DES ESR1 TSC1 MTOR
11	normal	MP:0002873	9.86	ACTC1 KIT ESR1 MITF MTOR PGR
12	limbs/digits/tail	MP:0005371	9.85	ESR1 KIT MITF PGR TYR
13	neoplasm	MP:0002006	9.85	KIT ESR1 TSC1 TSC2 PGR TYR
14	no phenotypic analysis	MP:0003012	9.8	KIT ESR1 MITF PGR MTOR TYR
15	renal/urinary system	MP:0005367	9.63	KIT ESR1 MTOR TSC1 TYR TSC2
16	reproductive system	MP:0005389	9.5	KIT ESR1 MITF PGR TSC1 TYR
17	skeleton	MP:0005390	9.17	ESR1 KIT MITF PGR MTOR TSC1

Sources

Drugs & Therapeutics for Angiomyolipoma

FDA approved drugs:

#	Drug Name	Active Ingredient(s) ¹⁸	Company	Approval Date
1	Afinitor ¹⁸ ⁴⁹	EVEROLIMUS	Novartis	March 2009
FDA Label: Afinitor Disease/s that Drug Treats:renal cell carcinoma/ renal angiomyolipoma associated with tuberous sclerosis complex/ advanced pancreatic neuroendocrine tumors/ hormone receptor-positive, HER2-negative breast cancer Indications and Usage: ¹⁸ AFINITOR is a kinase inhibitor indicated for the treatment of: postmenopausal women with advanced hormone receptor-positive, HER2- negative breast cancer (advanced HR+ BC) in combination with exemestane after failure of treatment with letrozole or anastrozole. (1.1) adults with progressive neuroendocrine tumors of pancreatic origin (PNET) that are unresectable, locally advanced or metastatic. AFINITOR is not indicated for the treatment of patients with functional carcinoid tumors. (1.2) adults with advanced renal cell carcinoma (RCC) after failure of treatment with sunitinib or sorafenib. (1.3) adults with renal angiomyolipoma and tuberous sclerosis complex (TSC), not requiring immediate surgery. The effectiveness of AFINITOR in the treatment of renal angiomyolipoma is based on an analysis of durable objective responses in patients treated for a median of 8.3 months. Further follow-up of patients is required to determine long-term outcomes. (1.4) AFINITOR and AFINITOR DISPERZ are kinase inhibitors indicated for the treatment of: pediatric and adult patients with tuberous sclerosis complex (TSC) who have subependymal giant cell astrocytoma (SEGA) that requires therapeutic intervention but cannot be curatively resected. The effectiveness is based on demonstration of durable objective response, as evidenced by reduction in SEGA tumor volume. Improvement in diseaserelated symptoms and overall survival in patients with SEGA and TSC has not been demonstrated. (1.5) DrugBank Targets: ¹⁶ Serine/threonine-protein kinase mTOR Mechanism of Action: ¹⁸ Target: mTOR Action: inhibitor FDA: Everolimus is an inhibitor of mammalian target of rapamycin (mTOR), a serine-threonine kinase, downstream of thePI3K/AKT pathway. The mTOR pathway is dysregulated in several human cancers. Everolimus binds to an intracellularprotein, FKBP-12, resulting in an inhibitory complex formation with mTOR complex 1 (mTORC1) and thus inhibition ofmTOR kinase activity. Everolimus reduced the activity of S6 ribosomal protein kinase (S6K1) and eukaryotic initiationfactor 4E-binding protein (4E-BP1), downstream effectors of mTOR, involved in protein synthesis. S6K1 is a substrate ofmTORC1 and phosphorylates the activation domain 1 of the estrogen receptor which results in ligand-independentactivation of the receptor. In addition, everolimus inhibited the expression of hypoxia-inducible factor (e.g., HIF-1) andreduced the expression of vascular endothelial growth factor (VEGF). Inhibition of mTOR by everolimus has been shownto reduce cell proliferation, angiogenesis, and glucose uptake in in vitro and/or in vivo studies.Constitutive activation of the PI3K/Akt/mTOR pathway can contribute to endocrine resistance in breast cancer. In vitrostudies show that estrogen-dependent and HER2+ breast cancer cells are sensitive to the inhibitory effects of everolimus,and that combination treatment with everolimus and Akt, HER2, or aromatase inhibitors enhances the anti-tumor activityof everolimus in a synergistic manner.Two regulators of mTORC1 signaling are the oncogene suppressors tuberin-sclerosis complexes 1 and 2 (TSC1, TSC2).Loss or inactivation of either TSC1 or TSC2 leads to activation of downstream signaling. In TSC, a genetic disorder,inactivating mutations in either the TSC1 or the TSC2 gene lead to hamartoma formation throughout the body.

Drugs for Angiomyolipoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

22916-47-8

4189

Everolimus

Approved

Phase 4,Phase 3,Phase 2,Phase 1

159351-69-6

6442177

Sirolimus

Approved, Investigational

Phase 4,Phase 3,Phase 2,Phase 1

53123-88-9

5284616 6436030 46835353

Doxycycline

Approved, Investigational, Vet_approved

Phase 4

564-25-0

54671203

Anti-Bacterial Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antibiotics, Antitubercular

Phase 4,Phase 3,Phase 2,Phase 1

Immunosuppressive Agents

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antifungal Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antiparasitic Agents

Phase 4

Antiprotozoal Agents

Phase 4

Antimalarials

Phase 4

Letrozole

Approved, Investigational

Phase 2

112809-51-5

3902

Propranolol

Approved, Investigational

Phase 2

525-66-6

4946

Octreotide

Approved, Investigational

Phase 2

83150-76-9

383414 6400441

Somatostatin

Approved, Investigational

Phase 2

38916-34-6, 51110-01-1

53481605

Menthol

Approved

Phase 2

2216-51-5

16666

Celecoxib

Approved, Investigational

Phase 2

169590-42-5

2662

Saracatinib

Investigational

Phase 2

379231-04-6

Steroid Synthesis Inhibitors

Phase 2

Hormone Antagonists

Phase 2

Hormones

Phase 2

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2

Estrogen Antagonists

Phase 2

Estrogens

Phase 2

Aromatase Inhibitors

Phase 2

Adrenergic Agents

Phase 2

Adrenergic Antagonists

Phase 2

Adrenergic beta-Antagonists

Phase 2

Gastrointestinal Agents

Phase 2

Neurotransmitter Agents

Phase 2

Angiogenesis Inhibitors

Phase 2

Anti-Arrhythmia Agents

Phase 2

Vasodilator Agents

Phase 2

Antihypertensive Agents

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Analgesics

Phase 2

Cyclooxygenase 2 Inhibitors

Phase 2

Cyclooxygenase Inhibitors

Phase 2

Analgesics, Non-Narcotic

Phase 2

Peripheral Nervous System Agents

Phase 2

Liver Extracts

Phase 2

Anti-Inflammatory Agents

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Antirheumatic Agents

Phase 2

Cola

Nutraceutical

Phase 2

Interventional clinical trials:

(show all 22)

#	Name	Status	NCT ID	Phase	Drugs
1	Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis	Completed	NCT01217125	Phase 4	Sirolimus
2	Doxycycline In Lymphangioleiomyomatosis (LAM)	Completed	NCT00989742	Phase 4	Doxycycline;Placebo
3	Phase IV Study of Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex.	Not yet recruiting	NCT03525834	Phase 4	everolimus
4	Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM)	Completed	NCT00790400	Phase 3	Everolimus (RAD001);Everolimus Placebo
5	Sirolimus in Treating Patients With Angiomyolipoma of the Kidney	Unknown status	NCT00126672	Phase 2	sirolimus
6	Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM	Unknown status	NCT00490789	Phase 2	sirolimus
7	Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer	Unknown status	NCT02188550	Phase 2	everolimus and letrozole
8	Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers	Completed	NCT02104011	Phase 2	Propranolol
9	RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM	Completed	NCT00457964	Phase 1, Phase 2	RAD001
10	Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM)	Completed	NCT00792766	Phase 1, Phase 2	everolimus (RAD001)
11	Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM	Completed	NCT00457808	Phase 2	Rapamycin, sirolimus
12	Treatment With Octreotide in Patients With Lymphangioleiomyomatosis	Completed	NCT00005906	Phase 2	Octreotide
13	Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus	Recruiting	NCT02539459	Phase 2	Everolimus
14	A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD	Recruiting	NCT02451696	Phase 2	Everolimus
15	COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC	Recruiting	NCT02484664	Phase 2	Celecoxib
16	Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis	Recruiting	NCT02737202	Phase 2	saracatinib
17	A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa	Withdrawn	NCT01690871	Phase 2	BEZ235
18	Tuberous Sclerosis Complex Natural History Study: Renal Manifestations	Completed	NCT00598455
19	Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma	Recruiting	NCT02325505
20	Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France	Recruiting	NCT02887781
21	EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications	Recruiting	NCT03477149	Not Applicable
22	A National Registry on Chinese Patients With Lymphangioleiomyomatosis	Recruiting	NCT03193892

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

Sources

Genetic Tests for Angiomyolipoma

Sources

Anatomical Context for Angiomyolipoma

MalaCards organs/tissues related to Angiomyolipoma:

⁴¹

Kidney, Liver, Breast, Lung, Endothelial, Colon, Brain

Sources

Publications for Angiomyolipoma

Articles related to Angiomyolipoma:

(show top 50) (show all 865)

#	Title	Authors	Year
1	Huge retroperitoneal epithelioid angiomyolipoma: A case report. ( 29276686 )	Tsai H.Y....Lee K.H.	2018
2	mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma. ( 29340326 )	Pleniceanu O....Dekel B.	2018
3	A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )	Fragkoulis C....Ntoumas K.	2018
4	Angiomyolipoma of the Liver without a Fat Component, Mimicking a Hepatocellular Carcinoma. ( 29361814 )	Woo Y.M....Kang Y.K.	2018
5	Massive hematuria at pregnancy caused by ruptured angiomyolipoma: A case report. ( 29254628 )	Rottenstreich A....Levin G.	2018
6	Consequences of delay in screening, monitoring, and treatment of angiomyolipoma and tuberous sclerosis: A case reporta8c. ( 29701176 )	Gipson T.T.	2018
7	Two in One: Epithelioid angiomyolipoma within a classic kidney angiomyolipoma - a case report. ( 29843640 )	Tuma J....Serra A.L.	2018
8	Sporadic renal angiomyolipoma in a patient with Birt-Hogg-DubAc: chaperones in pathogenesis. ( 29774133 )	Sager R.A....Bratslavsky G.	2018
9	Hepatic angiomyolipoma detected using computed tomography. ( 29392859 )	Miyazaki Y....Sakamoto H.	2018
10	Hepatic epithelioid angiomyolipoma with renal metastasis: radiologic-pathologic correlation. ( 29955240 )	Marcuzzi A....Salmi I.S.A.	2018
11	Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ( 29697822 )	Kingswood J.C....Jansen A.C.	2018
12	Re: Diagnostic Performance of CT for Diagnosis of Fat-Poor Angiomyolipoma in Patients with Renal Masses: A Systematic Review and Meta-Analysis. ( 29783555 )	Siegel C.	2018
13	A rare highly aggressive tumor of the kidney: The pure epithelioid angiomyolipoma. ( 29785369 )	Bani M.A....Msakni I.	2018
14	Effect of everolimus on skin lesions in patients treated for subependymal giant cell astrocytoma and renal angiomyolipoma: final 4-year results from the randomised EXIST-1 and EXIST-2 studies. ( 29569806 )	Franz D.N....Bissler J.J.	2018
15	Human renal angiomyolipoma cells of male and female origin can migrate and are influenced by microenvironmental factors. ( 29920561 )	Bertolini F....Mognetti B.	2018
16	The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )	Bissler J.J....Kingswood J.C.	2018
17	Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )	Liu X....Zhang X.	2018
18	Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )	Afriansyah A....Nusaly H.	2018
19	Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation. ( 29764404 )	Espinosa M....Rodriguez-Antona C.	2018
20	Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis. ( 29512829 )	Yan Z....Kakar S.	2018
21	Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )	Sasaki H....Shinohara N.	2018
22	Extrarenal retroperitoneal angiomyolipoma with oncocytoma. ( 29343920 )	Ali A.M....Kanodia K.V.	2018
23	Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )	Wan Y....Gao J.	2018
24	Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )	Cooper A....Guileyardo J.	2018
25	Expression of MDM2 and p16 in Angiomyolipoma. ( 29432785 )	Lin X....Zhang Y.	2018
26	Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )	Mettler J....Al-Katib S.	2018
27	Giant Extrarenal Retroperitoneal Angiomyolipoma: A Rare Case of a Large Size Tumor. ( 29980448 )	Ozturk S....Sozbilen E.M.	2018
28	Angiomyolipoma of the Kidneys: Current Perspectives and Challenges in Diagnostic Imaging and Image-Guided Therapy. ( 29685402 )	Razik A....Sharma S.	2018
29	Eosinophilic solid and cystic renal cell carcinoma mimicking epithelioid Angiomyolipoma: series of 4 primary tumors and 2 metastases. ( 29885406 )	Tretiakova M.S.	2018
30	Hepatic angiomyolipoma presenting as an arterially enhancing liver lesion. ( 29392818 )	Khoo C.Y....Goh B.K.P.	2018
31	Malignant renal epithelioid angiomyolipoma with TFE3 gene amplification mimicking renalA carcinoma. ( 29951351 )	Wang H....Liu Q.	2018
32	Factors associated with the number and size of renal angiomyolipomas in sporadic angiomyolipoma (sAML): a study of adult patients with sAML managed in a Dutch tertiary referral center. ( 29333579 )	Ruud Bosch J.L.H....Zonnenberg B.A.	2018
33	Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )	Kato H....Yamashiro Y.	2018
34	A rare case of renal angiomyolipoma involved both inferior vena cava and pulmonary arteries. ( 29707365 )	Gu J....Wu Z.	2018
35	Angiomyolipoma of the Adrenal Gland: A Report of Two Cases and Review of the Literature. ( 28904331 )	Ghimire O....Jiale H.	2017
36	Hepatic Angiomyolipoma Staining in the Post-vascular Phase of Contrast-enhanced Ultrasound Due to the Presence of Macrophages. ( 29279500 )	Endo K....Takikawa Y.	2017
37	Re: Small (&lt; 4 cm) Renal Tumors with Predominantly Low Signal Intensity on T2-Weighted Images: Differentiation of Minimal-Fat Angiomyolipoma from Renal Cell Carcinoma. ( 29370605 )	Siegel C.	2017
38	Pulmonary Lymphangiomyomatosis Associated with Renal and Hepatic Angiomyolipoma Mass in a Patient with Tuberous Sclerosis Complex. ( 29237943 )	Lu H.S....Chen W.F.	2017
39	Giant renal angiomyolipoma: A case report. ( 28781806 )	Chen P....Lai Y.	2017
40	Recurrent, Giant Renal Angiomyolipoma Treated with Selective Arterial Embolization: A Case Report. ( 29275410 )	Tidim G....Culha M.G.	2017
41	Intermittent everolimus administration for renal angiomyolipoma associated with tuberous sclerosis complex. ( 28905429 )	Hatano T....Egawa S.	2017
42	Fluorine-18-FDG PET/CT in a patient with angiomyolipoma: Response to mammalian target of rapamycin inhibitor therapy. ( 28697195 )	Anwar H....Dimitrakopoulou-Strauss A.	2017
43	Huge buccal angiomyolipoma: a rare entity. ( 28918977 )	Cheah S.C....Jais M.H.	2017
44	The sunburst sign in renal angiomyolipoma. ( 28828502 )	Li Y.L....Lau V.	2017
45	Epithelioid Angiomyolipoma - a case report and review of the literature. ( 29341516 )	Keane F....McCaffrey J.	2017
46	Renal Angiomyolipoma With Incidental Oncocytoma: A Case Report and Review of Literature. ( 29088523 )	Sunassee A....Muirhead D.M.	2017
47	Distinct subcellular localization of E-cadherin between epithelioid angiomyolipoma and triphasic angiomyolipoma: A preliminary case-control study. ( 28693223 )	Bi X.G....Zheng S.	2017
48	Ascending cholangitis: rare presentation of a ruptured right-sided renal angiomyolipoma. ( 29026516 )	Croghan S.M....Ted McDermott .	2017
49	Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )	Li S....Zhang X.	2017
50	Ang-1 and Ang-2 expression in angiomyolipoma and PEComa family tumors. ( 28053374 )	Shrestha S....James A.W.	2017

Sources

Genes for Angiomyolipoma

Genes related to Angiomyolipoma (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TSC2	TSC Complex Subunit 2	Protein Coding	36.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10823953 12010366 9529362 (more) 19265534 18085521 12711473 10934115 10349994 9403714 10633137 11704609 11112665 18958173 12213705 16288294 19648120 16647959 19175396 19443708 17989114 16575396 12411287 10096549 10939121 16192644 20040097 9444353 20457704 9310961 11812941
2	TSC1	TSC Complex Subunit 1	Protein Coding	34.9	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10349994 19265534 15856327 (more) 18310401 7792029 10633137 18205279 10934115 9688188 17592551 18308125 19374247 11706076 18080139 18414839 16192644 8902325 19917366 19175396 19443708 17932460 16055626 12547707 9529362 19133941 11904337 11781527 9403714 9306341 8863669 19602587 12536195 18547304 16288294 19349386 9827727 15476522 16382052 20043511 20160148
3	MITF	Melanogenesis Associated Transcription Factor	Protein Coding	29.96	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11800647
4	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	29.8	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18085521 17521703 16575396 (more) 19265534
5	PGR	Progesterone Receptor	Protein Coding	29.45	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10631194 11942568 9688188 (more) 15781664 17124601 17018483
6	TYR	Tyrosinase	Protein Coding	28.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11145253 11371226 11800647 (more) 11277411 11914628
7	KIT	KIT Proto-Oncogene Receptor Tyrosine Kinase	Protein Coding	27.94	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15791570 11914628 15998375 (more) 14629307 15198361
8	ACTC1	Actin, Alpha, Cardiac Muscle 1	Protein Coding	27.15	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11485907 11033464 11914628 (more) 18620999 17374233 8490837
9	DES	Desmin	Protein Coding	26.73	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10692023 11766641 8344654 (more) 8490837
10	CCL26	C-C Motif Chemokine Ligand 26	Protein Coding	26.62	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	20457704
11	ESR1	Estrogen Receptor 1	Protein Coding	25.87	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10631194 15781664 15189505 (more) 9688188

Sources

Variations for Angiomyolipoma

Sources

Expression for Angiomyolipoma

Search GEO for disease gene expression data for Angiomyolipoma.

Sources

Pathways for Angiomyolipoma

Pathways related to Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 26)

#	Super pathways	Score	Top Affiliating Genes
1	ERK Signaling ⁶⁴ Show member pathways ILK Signaling ⁶⁴ MAPK Signaling ⁶⁴ Molecular Mechanisms of Cancer ⁶⁴ Rho Family GTPases ⁶⁴	13.62	CCL26 DES ESR1 KIT MTOR TSC1
2	Pathways in cancer ³⁷	12.61	ESR1 KIT MITF MTOR
3	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.53	ESR1 KIT MTOR PGR
4	Glioma ³⁷ Show member pathways EGFR tyrosine kinase inhibitor resistance ³⁷ Endocrine resistance ³⁷ Melanoma ³⁷ Non-small cell lung cancer ³⁷ Signaling Pathways in Glioblastoma ¹	12.32	ESR1 MITF MTOR TSC1 TSC2
5	Type I Interferon Signaling Pathways ⁶⁵ Show member pathways Inhibition of TSC complex formation by PKB ⁶⁶ Interferon Pathway ⁶⁴ Type II Interferon Signaling Pathways ⁶⁵	12.11	MTOR TSC1 TSC2
6	Phospholipase D signaling pathway ³⁷ Show member pathways Choline metabolism in cancer ³⁷	12.09	KIT MTOR TSC1 TSC2
7	Translational Control ⁴	12.07	MTOR TSC1 TSC2
8	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	12	MTOR TSC1 TSC2
9	AKT Signaling Pathway ⁶⁷	11.96	MTOR TSC1 TSC2
10	Cellular senescence (KEGG) ³⁷	11.96	MTOR TSC1 TSC2
11	Longevity regulating pathway ³⁷ Show member pathways Longevity regulating pathway - multiple species ³⁷	11.91	MTOR TSC1 TSC2
12	Autophagy Pathway ⁶⁵ Show member pathways Autophagy - other ³⁷ Macroautophagy ⁶⁶ Nanoparticle triggered autophagic cell death ¹	11.9	MTOR TSC1 TSC2
13	Autophagy - animal ³⁷	11.81	MTOR TSC1 TSC2
14	Development IGF-1 receptor signaling ²² Show member pathways Signal transduction AKT signaling ²²	11.79	MTOR TSC1 TSC2
15	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	11.79	MTOR TSC1 TSC2
16	Thyroid hormone signaling pathway ³⁷	11.74	ESR1 MTOR TSC2
17	Glioblastoma Multiforme ⁶⁴	11.7	MTOR TSC1 TSC2
18	Integrated Breast Cancer Pathway ¹	11.64	ESR1 MTOR TSC1 TSC2
19	TP53 Regulates Metabolic Genes ⁶⁶	11.56	MTOR TSC1 TSC2
20	mTOR signaling pathway (Pathway Interaction Database) ¹	11.33	MTOR TSC1 TSC2
21	Wnt Signaling Pathway Netpath ¹	11.22	MTOR TSC1 TSC2
22	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	11.09	MTOR TSC2
23	Follicle Stimulating Hormone (FSH) signaling pathway ¹	11.03	MTOR TSC2
24	4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression ¹	10.79	MTOR TSC1
25	BDNF-TrkB Signaling ¹	10.66	MTOR TSC1 TSC2
26	LKB1 signaling events ¹	10.55	ESR1 MTOR TSC1 TSC2

Sources

GO Terms for Angiomyolipoma

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	9.65	ACTC1 DES ESR1 KIT MITF MTOR
2	protein-containing complex	GO:0032991	9.46	ESR1 MITF MTOR TSC1
3	TSC1-TSC2 complex	GO:0033596	8.62	TSC1 TSC2

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

(show all 14)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	9.67	ACTC1 KIT MITF MTOR
2	positive regulation of protein kinase B signaling	GO:0051897	9.65	ESR1 KIT MTOR
3	cell cycle arrest	GO:0007050	9.63	MTOR TSC1 TSC2
4	negative regulation of TOR signaling	GO:0032007	9.54	TSC1 TSC2
5	negative regulation of insulin receptor signaling pathway	GO:0046627	9.52	TSC1 TSC2
6	positive regulation of macroautophagy	GO:0016239	9.51	TSC1 TSC2
7	stem cell differentiation	GO:0048863	9.49	ESR1 KIT
8	melanocyte differentiation	GO:0030318	9.43	KIT MITF
9	regulation of osteoclast differentiation	GO:0045670	9.4	MITF MTOR
10	negative regulation of macroautophagy	GO:0016242	9.32	MTOR TSC1
11	anoikis	GO:0043276	9.26	MTOR TSC2
12	negative regulation of cell size	GO:0045792	9.16	MTOR TSC1
13	positive regulation of phospholipase C activity	GO:0010863	8.96	ESR1 KIT
14	pigmentation	GO:0043473	8.8	KIT MITF TYR

Molecular functions related to Angiomyolipoma according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	steroid binding	GO:0005496	8.62	ESR1 PGR

Sources

Sources for Angiomyolipoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia