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

MCID: ANG018 MIFTS: 50	Angiomyolipoma Categories: Cancer diseases
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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 C0241961

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Summaries for Angiomyolipoma

Disease Ontology : ¹² A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs consisting of perivascular epithelioid (pericyte and macrophage) 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 Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, 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...

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Related Diseases for Angiomyolipoma

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

(show top 50) (show all 243)

#	Related Disease	Score	Top Affiliating Genes
1	kidney angiomyolipoma	33.8	MTOR TSC1 TSC2
2	hepatic angiomyolipoma	33.4	KIT MTOR TSC2
3	tuberous sclerosis 1	32.2	CCL26 MTOR TSC1 TSC2
4	tuberous sclerosis 2	31.9	MTOR TSC1 TSC2
5	lymphangioleiomyomatosis	31.7	DES ESR1 MTOR PGR TSC1 TSC2
6	tuberous sclerosis	31.2	CCL26 MTOR TSC1 TSC2
7	renal cell carcinoma, nonpapillary	30.5	KIT MITF MTOR TSC1 TSC2
8	subependymal giant cell astrocytoma	30.3	MTOR TSC1 TSC2
9	horseshoe kidney	30.1	ACTC1 TSC2
10	renal cell carcinoma, papillary, 1	30.0	KIT MITF MTOR
11	autosomal dominant polycystic kidney disease	29.7	MTOR TSC1 TSC2
12	perivascular epithelioid cell tumor	29.6	ACTC1 DES KIT PGR TSC2
13	gastrointestinal stromal tumor	29.5	ACTC1 DES KIT
14	cystic nephroma	29.5	DES KIT PGR
15	childhood kidney angiomyolipoma	12.1
16	epithelioid type angiomyolipoma	12.1
17	multiple endocrine neoplasia, type i	11.1
18	polycystic kidney disease, infantile severe, with tuberous sclerosis	11.1
19	hepatocellular carcinoma	10.4
20	oncocytoma	10.3
21	clear cell renal cell carcinoma	10.3
22	fibroblastic rheumatism	10.3	ACTC1 DES
23	angiolipoma	10.2	ACTC1 DES
24	cutaneous leiomyosarcoma	10.2	ACTC1 DES
25	botryoid rhabdomyosarcoma	10.2	ACTC1 DES
26	spindle cell lipoma	10.2	ACTC1 DES
27	glomangioma	10.2	ACTC1 DES
28	parachordoma	10.2	ACTC1 DES
29	ossifying fibromyxoid tumor	10.2	ACTC1 DES
30	adult hepatocellular carcinoma	10.2	TSC1 TSC2
31	liposarcoma	10.2
32	epithelioid leiomyosarcoma	10.2	ACTC1 DES
33	non-langerhans-cell histiocytosis	10.2	ACTC1 DES
34	cutaneous fibrous histiocytoma	10.2	ACTC1 DES
35	congenital fibrosarcoma	10.2	ACTC1 DES
36	ischemic fasciitis	10.2	ACTC1 DES
37	reticulum cell sarcoma	10.2	ACTC1 DES
38	lissencephaly with cerebellar hypoplasia	10.2	TSC1 TSC2
39	pseudosarcomatous fibromatosis	10.2	ACTC1 DES
40	dedifferentiated liposarcoma	10.2	ACTC1 DES
41	lymphangiomatosis	10.2	DES PGR
42	glomus tumor	10.2	ACTC1 DES
43	calcifying aponeurotic fibroma	10.2	ACTC1 PGR
44	spindle cell sarcoma	10.2	ACTC1 DES
45	epulis	10.2	DES PGR
46	bizarre leiomyoma	10.2	ACTC1 PGR
47	myxoid leiomyosarcoma	10.2	ACTC1 PGR
48	kidney benign neoplasm	10.2	MTOR TSC2
49	syringoma	10.2	DES ESR1
50	plasmablastic lymphoma	10.2	DES MTOR

Graphical network of the top 20 diseases related to Angiomyolipoma:

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

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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 49)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

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

46835353 6436030 5284616

Miconazole

Approved, Investigational, Vet_approved

Phase 4,Phase 3,Phase 2,Phase 1

22916-47-8

4189

Doxycycline

Approved, Investigational, Vet_approved

Phase 4

564-25-0

54671203

Immunologic Factors

Phase 4,Phase 3,Phase 2,Phase 1

Antibiotics, Antitubercular

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Bacterial Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antifungal Agents

Phase 4,Phase 3,Phase 2,Phase 1

Anti-Infective Agents

Phase 4,Phase 3,Phase 2,Phase 1

Immunosuppressive 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

Somatostatin

Approved, Investigational

Phase 2

51110-01-1, 38916-34-6

53481605

Octreotide

Approved, Investigational

Phase 2

83150-76-9

383414 6400441

Celecoxib

Approved, Investigational

Phase 2

169590-42-5

2662

Saracatinib

Investigational

Phase 2

379231-04-6

Aromatase Inhibitors

Phase 2

Hormones, Hormone Substitutes, and Hormone Antagonists

Phase 2

Estrogen Receptor Antagonists

Phase 2

Steroid Synthesis Inhibitors

Phase 2

Estrogen Antagonists

Phase 2

Hormones

Phase 2

Hormone Antagonists

Phase 2

Estrogens

Phase 2

Vasodilator Agents

Phase 2

Anti-Arrhythmia Agents

Phase 2

Antihypertensive Agents

Phase 2

Angiogenesis Inhibitors

Phase 2

Adrenergic Antagonists

Phase 2

Adrenergic beta-Antagonists

Phase 2

Neurotransmitter Agents

Phase 2

Adrenergic Agents

Phase 2

Antineoplastic Agents, Hormonal

Phase 2

Gastrointestinal Agents

Phase 2

Liver Extracts

Phase 2

Analgesics

Phase 2

Anti-Inflammatory Agents, Non-Steroidal

Phase 2

Cyclooxygenase 2 Inhibitors

Phase 2

Cola

Phase 2

Peripheral Nervous System Agents

Phase 2

Cyclooxygenase Inhibitors

Phase 2

Antirheumatic Agents

Phase 2

Analgesics, Non-Narcotic

Phase 2

Anti-Inflammatory Agents

Phase 2

Ceritinib

Approved

Phase 1

1032900-25-6

Protein Kinase Inhibitors

Phase 1

Interventional clinical trials:

(show all 23)

#	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	Safety and Efficacy of Everolimus (Afinitor®) in Chinese Adult Patients With Angiomyolipoma Associated With Tuberous Sclerosis Complex.	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	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
14	Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis	Recruiting	NCT02737202	Phase 2	saracatinib
15	COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC	Active, not recruiting	NCT02484664	Phase 2	Celecoxib
16	Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus	Terminated	NCT02539459	Phase 2	Everolimus
17	A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa	Withdrawn	NCT01690871	Phase 2	BEZ235
18	Phase I/Ib Dose Escalation & Biomarker Study of Ceritinib (LDK378) + Everolimus for Locally Advanced or Metastatic Solid Tumors With an Expansion in Non-Small Cell Lung Cancer (NSCLC) Characterized by Abnormalities in Anaplastic Lymphoma Kinase (ALK) Expression	Recruiting	NCT02321501	Phase 1	Ceritinib (LDK378);Ceritinib (LDK378) 750 mg;Everolimus
19	Tuberous Sclerosis Complex Natural History Study: Renal Manifestations	Completed	NCT00598455
20	Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma	Recruiting	NCT02325505
21	Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France	Recruiting	NCT02887781
22	EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications	Recruiting	NCT03477149	Not Applicable
23	A National Registry on Chinese Patients With Lymphangioleiomyomatosis	Recruiting	NCT03193892

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

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Genetic Tests for Angiomyolipoma

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Anatomical Context for Angiomyolipoma

MalaCards organs/tissues related to Angiomyolipoma:

⁴¹

Kidney, Liver, Lung, Lymph Node, Smooth Muscle, Colon, Breast

Sources

Publications for Angiomyolipoma

Articles related to Angiomyolipoma:

(show top 50) (show all 1333)

#	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 )		2018
17	Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )		2018
18	Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )		2018
19	Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation. ( 29764404 )		2018
20	Hepatic angiomyolipoma: mutation analysis and immunohistochemical pitfalls in diagnosis. ( 29512829 )		2018
21	Spontaneous reduction of native kidney size involving angiomyolipoma lesions in a kidney transplant recipient with tuberous sclerosis complex. ( 29417638 )		2018
22	Extrarenal retroperitoneal angiomyolipoma with oncocytoma. ( 29343920 )		2018
23	Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )		2018
24	Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )		2018
25	Expression of MDM2 and p16 in Angiomyolipoma. ( 29432785 )		2018
26	Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )		2018
27	Giant Extrarenal Retroperitoneal Angiomyolipoma: A Rare Case of a Large Size Tumor. ( 29980448 )		2018
28	Angiomyolipoma of the Kidneys: Current Perspectives and Challenges in Diagnostic Imaging and Image-Guided Therapy. ( 29685402 )		2018
29	Eosinophilic solid and cystic renal cell carcinoma mimicking epithelioid Angiomyolipoma: series of 4 primary tumors and 2 metastases. ( 29885406 )		2018
30	Hepatic angiomyolipoma presenting as an arterially enhancing liver lesion. ( 29392818 )		2018
31	Malignant renal epithelioid angiomyolipoma with TFE3 gene amplification mimicking renalA carcinoma. ( 29951351 )		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 )		2018
33	Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )		2018
34	Morphologic analysis with computed tomography may help differentiate fat-poor angiomyolipoma from renal cell carcinoma: a retrospective study with 602 patients. ( 28677004 )	Kim YH...Park SY	2018
35	Atypical Epithelioid Angiomyolipoma: A Rare Variant With Malignant Potential. ( 28993216 )	Sun DZ...Campbell SC	2018
36	Transarterial Embolization of a Ruptured Renal Angiomyolipoma. ( 29021483 )	Taki Y...Shibagaki Y	2018
37	t(6;11) renal cell carcinoma: a study of seven cases including two with aggressive behavior, and utility of CD68 (PG-M1) in the differential diagnosis with pure epithelioid PEComa/epithelioid angiomyolipoma. ( 29052596 )	Cali? A...Martignoni G	2018
38	Differentiation between papillary renal cell carcinoma and fat-poor angiomyolipoma: a preliminary study assessing detection of intratumoral hemorrhage with chemical shift MRI and T2*-weighted gradient echo. ( 29069911 )	Woo S...Kim SH	2018
39	Epithelioid Angiomyolipoma of the Liver. ( 29110191 )	Huang YM...Chen RJ	2018
40	Machine learning-based quantitative texture analysis of CT images of small renal masses: Differentiation of angiomyolipoma without visible fat from renal cell carcinoma. ( 29134348 )	Feng Z...Wang W	2018
41	Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy. ( 29154983 )	Watanabe EH...Onuchic LF	2018
42	Chemical shift magnetic resonance imaging for distinguishing minimal-fat renal angiomyolipoma from renal cell carcinoma: a meta-analysis. ( 29178029 )	Chen LS...Wang ZQ	2018
43	Extrarenal Angiomyolipoma: differential diagnosis of retroperitoneal masses. ( 29211401 )	Wroclawski ML...Cavalcante LB	2018
44	Selecting a suitable surgical treatment for hepatic angiomyolipoma: a retrospective analysis of 92 cases. ( 29241297 )	Yang X...Wang W	2018
45	Deep feature classification of angiomyolipoma without visible fat and renal cell carcinoma in abdominal contrast-enhanced CT images with texture image patches and hand-crafted feature concatenation. ( 29474742 )	Lee H...Jung DC	2018
46	Inflammatory angiomyolipoma of the liver: a diagnostic pitfall. ( 29496202 )	Nell RJ...Fermoyle S	2018
47	Angiomyolipoma: A link between stemness and tumorigenesis in the kidney. ( 29503451 )	Becherucci F...Romagnani P	2018
48	Imaging appearance of renal epithelioid angiomyolipoma: A case report and literature review. ( 29505538 )	Zhu J...Cheng H	2018
49	Renal epithelioid angiomyolipoma: magnetic resonance imaging characteristics. ( 29525877 )	Cong X...Chen Y	2018
50	miR-9-5p, miR-124-3p, and miR-132-3p regulate BCL2L11 in tuberous sclerosis complex angiomyolipoma. ( 29540858 )	Cai Y...Zhang Y	2018

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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	36.44	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	34.4	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	Melanocyte Inducing Transcription Factor	Protein Coding	29.79	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11800647
4	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	29.72	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18085521 17521703 16575396 (more) 19265534
5	PGR	Progesterone Receptor	Protein Coding	29.24	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	27.86	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	27.07	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11485907 11033464 11914628 (more) 18620999 17374233 8490837
9	DES	Desmin	Protein Coding	26.65	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10692023 11766641 8344654 (more) 8490837
10	CCL26	C-C Motif Chemokine Ligand 26	Protein Coding	26.54	Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	20457704
11	ESR1	Estrogen Receptor 1	Protein Coding	25.66	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 25)

#	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	13.6	CCL26 DES ESR1 KIT MTOR TSC1
2	Pathways in cancer ³⁷	12.6	ESR1 KIT MITF MTOR
3	Gastric cancer ³⁷ Show member pathways Breast cancer ³⁷ Hepatocellular carcinoma ³⁷	12.49	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	12.33	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	12.1	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	12.06	MTOR TSC1 TSC2
8	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	11.98	MTOR TSC1 TSC2
9	Cellular senescence (KEGG) ³⁷	11.94	MTOR TSC1 TSC2
10	AKT Signaling Pathway ⁶⁷	11.92	MTOR TSC1 TSC2
11	Longevity regulating pathway ³⁷ Show member pathways Longevity regulating pathway - multiple species ³⁷	11.9	MTOR TSC1 TSC2
12	Autophagy Pathway ⁶⁵ Show member pathways Autophagy - other ³⁷ Macroautophagy ⁶⁶ Nanoparticle triggered autophagic cell death ¹	11.89	MTOR TSC1 TSC2
13	Autophagy - animal ³⁷	11.78	MTOR TSC1 TSC2
14	Thyroid hormone signaling pathway ³⁷	11.72	ESR1 MTOR TSC2
15	Glioblastoma Multiforme ⁶⁴	11.68	MTOR TSC1 TSC2
16	Integrated Breast Cancer Pathway ¹	11.64	ESR1 MTOR TSC1 TSC2
17	TP53 Regulates Metabolic Genes ⁶⁶	11.54	MTOR TSC1 TSC2
18	mTOR signaling pathway (Pathway Interaction Database) ¹	11.33	MTOR TSC1 TSC2
19	Wnt Signaling Pathway Netpath ¹	11.22	MTOR TSC1 TSC2
20	Signaling mediated by p38-alpha and p38-beta ¹	11.17	ESR1 MITF
21	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	11.09	MTOR TSC2
22	Follicle Stimulating Hormone (FSH) signaling pathway ¹	11.03	MTOR TSC2
23	4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression ¹	10.77	MTOR TSC1
24	BDNF-TrkB Signaling ¹	10.66	MTOR TSC1 TSC2
25	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	TSC1-TSC2 complex	GO:0033596	8.62	TSC1 TSC2

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of gene expression	GO:0010628	9.71	ACTC1 KIT MITF MTOR
2	transcription, DNA-templated	GO:0006351	9.7	ESR1 MITF PGR
3	positive regulation of protein kinase B signaling	GO:0051897	9.63	ESR1 KIT MTOR
4	negative regulation of TOR signaling	GO:0032007	9.55	TSC1 TSC2
5	negative regulation of insulin receptor signaling pathway	GO:0046627	9.54	TSC1 TSC2
6	positive regulation of macroautophagy	GO:0016239	9.51	TSC1 TSC2
7	regulation of protein kinase activity	GO:0045859	9.49	MTOR TSC1
8	stem cell differentiation	GO:0048863	9.48	ESR1 KIT
9	melanocyte differentiation	GO:0030318	9.43	KIT MITF
10	regulation of osteoclast differentiation	GO:0045670	9.37	MITF MTOR
11	negative regulation of macroautophagy	GO:0016242	9.32	MTOR TSC1
12	positive regulation of phospholipase C activity	GO:0010863	9.26	ESR1 KIT
13	anoikis	GO:0043276	9.16	MTOR TSC2
14	negative regulation of cell size	GO:0045792	8.96	MTOR TSC1
15	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