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

MCID: KDN015 MIFTS: 47	Kidney Angiomyolipoma Categories: Cancer diseases, Nephrological diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma ¹² ⁵⁵ ¹⁵

Renal Angiomyolipoma ¹² ³⁷ ²⁹ ⁶

Angiomyolipoma of Kidney ¹² ⁷³

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:8411

NCIt ⁵⁰ C3888

KEGG ³⁷ H01691

UMLS ⁷³ C0241961

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Summaries for Kidney Angiomyolipoma

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to angiomyolipoma and renal cell carcinoma, nonpapillary. An important gene associated with Kidney Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are mTOR signaling pathway and Cellular Senescence (REACTOME). The drugs Afinitor and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and lung, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

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Related Diseases for Kidney Angiomyolipoma

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

(show top 50) (show all 78)

#	Related Disease	Score	Top Affiliating Genes
1	angiomyolipoma	30.6	MTOR TSC1 TSC2
2	renal cell carcinoma, nonpapillary	30.4	FLCN MTOR TSC1 TSC2
3	subependymal giant cell astrocytoma	30.2	MTOR TSC1 TSC2
4	tuberous sclerosis	29.8	MTOR RHEB TSC1 TSC2
5	lymphangioleiomyomatosis	29.7	MTOR TSC1 TSC2
6	birt-hogg-dube syndrome	29.6	FLCN FNIP1
7	tuberous sclerosis 1	29.4	MTOR RHEB TSC1 TSC2
8	pneumothorax	29.4	FLCN FNIP1 TSC1
9	childhood kidney angiomyolipoma	12.3
10	oncocytoma	10.1
11	astrocytoma	10.1
12	adult hepatocellular carcinoma	10.1	TSC1 TSC2
13	hepatic angiomyolipoma	10.1	MTOR TSC2
14	lissencephaly with cerebellar hypoplasia	10.1	TSC1 TSC2
15	thrombosis	10.1
16	liposarcoma	10.1
17	pulmonary embolism	10.1
18	corneal dystrophy, fleck	10.1	TSC1 TSC2
19	multilocular clear cell renal cell carcinoma	10.1	FLCN TSC2
20	hereditary renal cell carcinoma	10.1	FLCN TSC2
21	central nervous system benign neoplasm	10.0	MTOR TSC2
22	familial renal papillary carcinoma	10.0	FLCN TSC2
23	peutz-jeghers syndrome	10.0	TSC1 TSC2
24	megalencephaly	10.0	MTOR TSC1
25	cowden disease	10.0	TSC1 TSC2
26	polycystic kidney disease	10.0
27	clear cell renal cell carcinoma	10.0
28	kidney disease	10.0
29	retroperitoneal liposarcoma	10.0
30	subependymal glioma	10.0	MTOR TSC1 TSC2
31	benign ependymoma	10.0	MTOR TSC1 TSC2
32	benign glioma	10.0	MTOR TSC1 TSC2
33	focal cortical dysplasia, type ii	10.0	MTOR TSC1 TSC2
34	tuberous sclerosis 2	10.0	MTOR TSC1 TSC2
35	polycystic kidney disease 1 with or without polycystic liver disease	10.0	MTOR TSC1 TSC2
36	focal epilepsy	9.9	MTOR TSC1 TSC2
37	congenital heart defects, hamartomas of tongue, and polysyndactyly	9.9	FLCN TSC1 TSC2
38	autosomal dominant polycystic kidney disease	9.9	MTOR TSC1 TSC2
39	polycystic liver disease 1 with or without kidney cysts	9.9	FLCN TSC1 TSC2
40	kidney benign neoplasm	9.9	FLCN MTOR TSC2
41	pneumothorax, primary spontaneous	9.9	FLCN FNIP1
42	renal cell carcinoma, papillary, 1	9.9	MTOR RHEB
43	aortic aneurysm, familial abdominal, 1	9.8
44	septooptic dysplasia	9.8
45	thrombophilia due to thrombin defect	9.8
46	cystic disease of lung	9.8
47	pancreatic cancer	9.8
48	polycythemia vera	9.8
49	gastrointestinal stromal tumor	9.8
50	myocardial infarction	9.8

Graphical network of the top 20 diseases related to Kidney Angiomyolipoma:

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Symptoms & Phenotypes for Kidney Angiomyolipoma

GenomeRNAi Phenotypes related to Kidney Angiomyolipoma according to GeneCards Suite gene sharing:

²⁶ (show all 16)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.87	MTOR RHEB
2	Increased shRNA abundance (Z-score > 2)	GR00366-A-11	9.87	FLCN MTOR RHEB
3	Increased shRNA abundance (Z-score > 2)	GR00366-A-120	9.87	FLCN
4	Increased shRNA abundance (Z-score > 2)	GR00366-A-121	9.87	FLCN
5	Increased shRNA abundance (Z-score > 2)	GR00366-A-126	9.87	FLCN
6	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.87	TSC1
7	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.87	MTOR RHEB
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-183	9.87	FLCN
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.87	MTOR RHEB TSC1
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.87	RHEB
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-6	9.87	FLCN
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.87	RHEB
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.87	MTOR
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-76	9.87	FLCN
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.87	FLCN TSC1
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.87	MTOR

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.85	FLCN FNIP1 MTOR RHEB TSC1 TSC2
2	cellular	MP:0005384	9.8	FLCN FNIP1 MTOR RHEB TSC1 TSC2
3	embryo	MP:0005380	9.65	FLCN MTOR RHEB TSC1 TSC2
4	homeostasis/metabolism	MP:0005376	9.63	FLCN FNIP1 MTOR RHEB TSC1 TSC2
5	neoplasm	MP:0002006	9.26	FLCN FNIP1 TSC1 TSC2
6	renal/urinary system	MP:0005367	9.02	FLCN FNIP1 MTOR TSC1 TSC2

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Drugs & Therapeutics for Kidney 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 Kidney 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 Kidney Angiomyolipoma

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Genetic Tests for Kidney Angiomyolipoma

Genetic tests related to Kidney Angiomyolipoma:

#	Genetic test	Affiliating Genes
1	Renal Angiomyolipoma ²⁹

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Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

⁴¹

Kidney, Lymph Node, Lung, Liver, Thyroid, Heart, Tongue

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Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 630)

#	Title	Authors	Year
1	mTORC1 Inhibition Is an Effective Treatment for Sporadic Renal Angiomyolipoma. ( 29340326 )	Pleniceanu O....Dekel B.	2018
2	A rare case of giant renal angiomyolipoma in a woman with tuberous sclerosis. ( 29942788 )	Fragkoulis C....Ntoumas K.	2018
3	Two in One: Epithelioid angiomyolipoma within a classic kidney angiomyolipoma - a case report. ( 29843640 )	Tuma J....Serra A.L.	2018
4	Sporadic renal angiomyolipoma in a patient with Birt-Hogg-DubAc: chaperones in pathogenesis. ( 29774133 )	Sager R.A....Bratslavsky G.	2018
5	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
6	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
7	Human renal angiomyolipoma cells of male and female origin can migrate and are influenced by microenvironmental factors. ( 29920561 )	Bertolini F....Mognetti B.	2018
8	The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma. ( 28993887 )		2018
9	Retroperitoneal laparoscopic nephron sparing surgery for large renal angiomyolipoma: Our technique and experience. A case series of 41 patients. ( 29723675 )		2018
10	Bilateral Giant Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Complex: A Case Report. ( 29686177 )		2018
11	Gemstone spectral imaging dual-energy computed tomography for differentiation of renal cell carcinoma and minimal-fat renal angiomyolipoma. ( 29970695 )		2018
12	Pulmonary lymphangioleiomyomatosis associated with aggressive renal angiomyolipoma. ( 29686563 )		2018
13	Aggressive Renal Angiomyolipoma in a Patient with Tuberous Sclerosis Resulting in Pulmonary Tumor Embolus and Pulmonary Infarction<sup/>. ( 29885779 )		2018
14	Superselective Transcatheter Arterial Embolization for Large Unruptured Renal Angiomyolipoma in Lymphangioleiomyomatosis. ( 29398412 )		2018
15	Transarterial Embolization of a Ruptured Renal Angiomyolipoma. ( 29021483 )	Taki Y...Shibagaki Y	2018
16	Giant Renal Angiomyolipoma Following Ovarian Stimulation Therapy. ( 29154983 )	Watanabe EH...Onuchic LF	2018
17	Chemical shift magnetic resonance imaging for distinguishing minimal-fat renal angiomyolipoma from renal cell carcinoma: a meta-analysis. ( 29178029 )	Chen LS...Wang ZQ	2018
18	Assessing the outcomes of everolimus on renal angiomyolipoma associated with tuberous sclerosis complex in China: a two years trial. ( 29587809 )	Cai Y...Zhang Y	2018
19	Surveillance imaging for sporadic renal angiomyolipoma less than 40 mm: lessons learnt and recommendations from the experience of a large district general hospital. ( 29658337 )	Chan KE...Turner KJ	2018
20	An update on recent developments in rupture of renal angiomyolipoma. ( 29668633 )	Wang C...Fan J	2018
21	A rare case of renal angiomyolipoma involved both inferior vena cava and pulmonary arteries. ( 29707365 )	Gu J...Wu Z	2018
22	Postembolization Intratumoral Chronic Bleeding, without the Classic CT Feature of Active Extravasation, in Tuberous Sclerosis Complex-Related Renal Angiomyolipoma: Two Case Reports. ( 29998126 )	Zhang X...Kato H	2018
23	Selective Arterial Embolization of Giant Renal Angiomyolipoma Associated with Tuberous Sclerosis Complex Using Particular and Liquid Embolic Agents. ( 30002583 )	Kocakgol DO...Dinc H	2018
24	Genotype-phenotype correlation of patients with tuberous sclerosis complex-associated renal angiomyolipoma: a descriptive study. ( 30036593 )	Li S...Wei J	2018
25	Renal Angiomyolipoma: The Good, the Bad, and the Ugly. ( 30039053 )	Vos N...Oyen R	2018
26	Effect of everolimus treatment for regrown renal angiomyolipoma associated with tuberous sclerosis complex after transcatheter arterial embolization. ( 30069798 )	Hatano T...Egawa S	2018
27	Rupture of renal angiomyolipoma during pregnancy: A case report. ( 30104859 )	Nath S...Varshney P	2018
28	Embolization of hemorrhagic renal angiomyolipoma complicated by arteriovenous shunting: A case report. ( 30108678 )	Mills MJ...Hurley P	2018
29	Large Aneurysm in Renal Angiomyolipoma. ( 30173683 )	Khan AA...Kadri S	2018
30	Benign Neoplasm of Kidney: Angiomyolipoma. ( 30283196 )	Wang SF...Lo WO	2018
31	Evaluation of ABO blood groups and blood-based biomarkers as a predictor of growth kinetics of renal angiomyolipoma. ( 30324575 )	Arslan B...Ozdemir E	2018
32	Author Correction: Microsatellite analysis for differentiating the origin of renal angiomyolipoma and involved regional lymph node. ( 30333562 )	Tan P...Wei Q	2018
33	Giant exophytic renal angiomyolipoma masquerading as a retroperitoneal liposarcoma: A case report and review of literature. ( 30425941 )	Sharma G...Garg PK	2018
34	Observational study of characteristics and clinical outcomes of Dutch patients with tuberous sclerosis complex and renal angiomyolipoma treated with everolimus. ( 30439947 )	Zonnenberg BA...Vekeman F	2018
35	Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. ( 30455224 )	Wei CC...Tsai JD	2018
36	Preoperative inferior vena cava filter implantation to prevent pulmonary fat embolism in a patient showing renal angiomyolipoma extension into the renal vein: A case report and literature review. ( 30546809 )	Fujiwara M...Okuno T	2018
37	Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. ( 30550347 )	Song X...Bissler J	2018
38	Giant renal angiomyolipoma in a solitary kidney. ( 30553288 )	Sohlberg E...Skinner E	2018
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	The sunburst sign in renal angiomyolipoma. ( 28828502 )	Li Y.L....Lau V.	2017
43	Renal Angiomyolipoma With Incidental Oncocytoma: A Case Report and Review of Literature. ( 29088523 )	Sunassee A....Muirhead D.M.	2017
44	Ascending cholangitis: rare presentation of a ruptured right-sided renal angiomyolipoma. ( 29026516 )	Croghan S.M....Ted McDermott .	2017
45	Clinical and genetic analysis of tuberous sclerosis complex-associated renal angiomyolipoma in Chinese pedigrees. ( 29344138 )	Li S....Zhang X.	2017
46	Healthcare utilization and costs in patients with tuberous sclerosiscomplex-related renal angiomyolipoma. ( 27998195 )	Song X....Bissler J.	2017
47	Effect of everolimus treatment for renal angiomyolipoma associated with tuberous sclerosis complex: an evaluation based on tumor density. ( 29256023 )	Hatano T....Egawa S.	2017
48	Familial genetic tuberous sclerosis complex associated with bilateral giant renal angiomyolipoma: A case report. ( 29344140 )	Wang L....Wang J.	2017
49	Efficacy of Everolimus for Treating Renal Angiomyolipoma with Inferior Vena Cava Thrombus Associated with Tuberous Sclerosis: A Case Report. ( 28083476 )	Ikarashi D....Obara W.	2017
50	Are We Overtreating Renal Angiomyolipoma: A Review of the Literature and Assessment of Contemporary Management and Follow-Up Strategies. ( 29260305 )		2017

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Genes for Kidney Angiomyolipoma

Genes related to Kidney Angiomyolipoma (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TSC2	TSC Complex Subunit 2	Protein Coding	27.82	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	12192641 11355103 19005330 (more) 19265534
2	TSC1	TSC Complex Subunit 1	Protein Coding	26.79	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17932460 11355103 19265534
3	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	16.58	DISEASES inferred ¹⁵
4	FLCN	Folliculin	Protein Coding	15.35	DISEASES inferred ¹⁵
5	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	15.3	DISEASES inferred ¹⁵
6	FNIP1	Folliculin Interacting Protein 1	Protein Coding	14.79	DISEASES inferred ¹⁵
7	KANK1	KN Motif And Ankyrin Repeat Domains 1	Protein Coding	14.64	DISEASES inferred ¹⁵

Sources

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	TSC1	NM_000368.4(TSC1): c.359T> C (p.Leu120Pro)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 9, 132925591: 132925591
2	TSC1	NM_000368.4(TSC1): c.359T> C (p.Leu120Pro)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 9, 135800978: 135800978

Sources

Expression for Kidney Angiomyolipoma

Search GEO for disease gene expression data for Kidney Angiomyolipoma.

Sources

Pathways for Kidney Angiomyolipoma

Pathways related to Kidney Angiomyolipoma according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150

Pathways related to Kidney Angiomyolipoma according to GeneCards Suite gene sharing:

(show all 40)

#	Super pathways	Score	Top Affiliating Genes
1	Cellular Senescence (REACTOME) ⁶⁶ Show member pathways Cellular responses to stress ⁶⁶ Cellular Senescence ⁶⁶ Senescence-Associated Secretory Phenotype (SASP) ⁶⁶	12.91	MTOR RHEB TSC1 TSC2
2	Human cytomegalovirus infection ³⁷ Show member pathways Hepatitis B ³⁷ Human immunodeficiency virus 1 infection ³⁷ Kaposi sarcoma-associated herpesvirus infection ³⁷	12.85	MTOR RHEB TSC1 TSC2
3	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	12.84	MTOR RHEB TSC1 TSC2
4	PI3K-Akt signaling pathway ³⁷ Show member pathways Human papillomavirus infection ³⁷	12.8	MTOR RHEB TSC1 TSC2
5	Regulation of TP53 Activity ⁶⁶ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁶ Regulation of TP53 Activity through Methylation ⁶⁶ Regulation of TP53 Activity through Phosphorylation ⁶⁶ Transcriptional Regulation by TP53 ⁶⁶	12.77	MTOR RHEB TSC1 TSC2
6	Regulation of lipid metabolism Insulin signaling-generic cascades ²² Show member pathways acetyl-CoA biosynthesis from citrate ¹ Butyrate-induced histone acetylation ¹ Cell adhesion PLAU signaling ²² Class IB PI3K non-lipid kinase events ¹ Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² ErbB2/ErbB3 signaling events ¹ Glucose Homeostasis ¹ Insulin signaling pathway ³⁷ IRS activation ⁶⁶ Signal attenuation ⁶⁶ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.7	MTOR RHEB TSC1 TSC2
7	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	12.53	MTOR TSC1 TSC2
8	Development Endothelin-1/EDNRA signaling ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA transactivation of EGFR ²² GnRH signaling pathway ³⁷ Inflammatory mediator regulation of TRP channels ³⁷	12.44	MTOR RHEB TSC2
9	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.38	MTOR RHEB TSC1 TSC2
10	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁷ AMPK Signaling Pathway ⁶⁷	12.3	MTOR RHEB TSC1 TSC2
11	mTOR signalling ⁶⁶ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁶ mTORC1-mediated signalling ⁶⁶ PDE3B signalling ⁶⁶ PI3K Cascade ⁶⁶ PKB-mediated events ⁶⁶ Target Of Rapamycin (TOR) Signaling ¹	12.28	MTOR RHEB TSC1 TSC2
12	Phospholipase D signaling pathway ³⁷ Show member pathways Choline metabolism in cancer ³⁷	12.25	MTOR RHEB TSC1 TSC2
13	Development IGF-1 receptor signaling ²² Show member pathways IL-4 Signaling Pathway ¹ Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.23	MTOR RHEB TSC1 TSC2
14	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	12.14	MTOR TSC1 TSC2
15	Translational Control ⁴	12.11	FLCN MTOR TSC1 TSC2
16	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.08	MTOR RHEB TSC1 TSC2
17	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴ mitochondrial L-carnitine shuttle ¹	12.04	MTOR TSC1 TSC2
18	Cellular senescence (KEGG) ³⁷	11.98	MTOR RHEB TSC1 TSC2
19	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.97	MTOR RHEB TSC2
20	AKT Signaling Pathway ⁶⁷	11.97	MTOR RHEB TSC1 TSC2
21	Integrated Breast Cancer Pathway ¹	11.95	MTOR RHEB TSC1 TSC2
22	Longevity regulating pathway ³⁷ Show member pathways Longevity regulating pathway - multiple species ³⁷	11.91	MTOR RHEB TSC1 TSC2
23	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	11.88	MTOR RHEB TSC2
24	Thyroid hormone signaling pathway ³⁷	11.86	MTOR RHEB TSC2
25	Autophagy Pathway ⁶⁵ Show member pathways Autophagy - other ³⁷ Macroautophagy ⁶⁶ Nanoparticle triggered autophagic cell death ¹	11.85	MTOR RHEB TSC1 TSC2
26	Glioblastoma Multiforme ⁶⁴	11.83	MTOR TSC1 TSC2
27	PI3K / Akt Signaling ⁴	11.74	RHEB TSC1 TSC2
28	Autophagy - animal ³⁷	11.73	MTOR RHEB TSC1 TSC2
29	Constitutive Signaling by AKT1 E17K in Cancer ⁶⁶ Show member pathways AKT phosphorylates targets in the cytosol ⁶⁶ AKT phosphorylates targets in the nucleus ⁶⁶ AKT-mediated inactivation of FOXO1A ⁶⁶ Class I PI3K signaling events mediated by Akt ¹	11.61	MTOR TSC2
30	mTOR signaling pathway (KEGG) ⁶⁵ Show member pathways mTOR signaling pathway ³⁷	11.56	FLCN FNIP1 MTOR RHEB TSC1 TSC2
31	TP53 Regulates Metabolic Genes ⁶⁶	11.49	MTOR RHEB TSC1 TSC2
32	Wnt Signaling Pathway Netpath ¹	11.47	MTOR TSC1 TSC2
33	TBC/RABGAPs ⁶⁶	11.34	TSC1 TSC2
34	LKB1 signaling events ¹	11.34	MTOR TSC1 TSC2
35	ATM Signaling Network in Development and Disease ¹	11.33	MTOR TSC2
36	mTOR signaling pathway (Pathway Interaction Database) ¹	11.24	MTOR RHEB TSC1 TSC2
37	PI3K-AKT-mTOR signaling pathway and therapeutic opportunities ¹	11.15	MTOR RHEB TSC2
38	Follicle Stimulating Hormone (FSH) signaling pathway ¹	11.01	MTOR RHEB TSC2
39	4-hydroxytamoxifen, Dexamethasone, and Retinoic Acids Regulation of p27 Expression ¹	10.89	MTOR TSC1
40	BDNF-TrkB Signaling ¹	10.79	MTOR RHEB TSC1 TSC2

Sources

GO Terms for Kidney Angiomyolipoma

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

#	Name	GO ID	Score	Top Affiliating Genes
1	cytoplasm	GO:0005737	9.7	FLCN FNIP1 KANK1 MTOR RHEB TSC1
2	lysosome	GO:0005764	9.43	FLCN MTOR TSC2
3	postsynaptic density	GO:0014069	9.13	RHEB TSC1 TSC2
4	TSC1-TSC2 complex	GO:0033596	8.62	TSC1 TSC2

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

(show all 24)

#	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of protein phosphorylation	GO:0001934	9.7	FLCN FNIP1 MTOR
2	neural tube closure	GO:0001843	9.62	TSC1 TSC2
3	response to insulin	GO:0032868	9.61	MTOR TSC1
4	cellular response to starvation	GO:0009267	9.61	FNIP1 MTOR
5	negative regulation of neuron projection development	GO:0010977	9.6	KANK1 TSC1
6	regulation of macroautophagy	GO:0016241	9.59	MTOR RHEB
7	negative regulation of protein kinase B signaling	GO:0051898	9.58	FLCN TSC2
8	positive regulation of stress fiber assembly	GO:0051496	9.58	MTOR TSC1
9	negative regulation of cold-induced thermogenesis	GO:0120163	9.57	FLCN RHEB
10	positive regulation of macroautophagy	GO:0016239	9.56	TSC1 TSC2
11	positive regulation of TOR signaling	GO:0032008	9.55	FLCN RHEB
12	regulation of protein kinase activity	GO:0045859	9.54	MTOR TSC1
13	negative regulation of Rho protein signal transduction	GO:0035024	9.51	FLCN KANK1
14	regulation of protein phosphorylation	GO:0001932	9.5	FLCN FNIP1 MTOR
15	positive regulation of oligodendrocyte differentiation	GO:0048714	9.49	MTOR RHEB
16	regulation of TOR signaling	GO:0032006	9.48	FLCN RHEB
17	negative regulation of macroautophagy	GO:0016242	9.46	MTOR TSC1
18	anoikis	GO:0043276	9.43	MTOR TSC2
19	negative regulation of cell size	GO:0045792	9.4	MTOR TSC1
20	TORC1 signaling	GO:0038202	9.37	FNIP1 MTOR
21	negative regulation of insulin receptor signaling pathway	GO:0046627	9.33	KANK1 TSC1 TSC2
22	regulation of pro-B cell differentiation	GO:2000973	9.26	FLCN FNIP1
23	TOR signaling	GO:0031929	9.13	FLCN FNIP1 MTOR
24	negative regulation of TOR signaling	GO:0032007	8.92	FLCN FNIP1 TSC1 TSC2

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

#	Name	GO ID	Score	Top Affiliating Genes
1	Hsp90 protein binding	GO:0051879	8.96	TSC1 TSC2
2	ATPase inhibitor activity	GO:0042030	8.62	FNIP1 TSC1

Sources

Sources for Kidney Angiomyolipoma

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

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¹⁰ dbSNP

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²⁰ GeneAnalytics

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

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⁴¹ MalaCards

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⁴⁸ NCBI Bookshelf

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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

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⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

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⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia