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

MCID: KDN015 MIFTS: 46	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 ⁵⁴ ¹⁵ ¹⁷

Renal Angiomyolipoma ¹² ³⁶ ⁶

Angiomyolipoma of Kidney ¹² ⁷¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:8411

KEGG ³⁶ H01691

NCIt ⁴⁹ C3888

EFO ¹⁷ EFO_1000312

UMLS ⁷¹ C0241961

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Summaries for Kidney Angiomyolipoma

KEGG : ³⁶ Renal angiomyolipoma (AML) is one of the most common solid benign renal tumours, composed of fat, smooth muscle, and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis (LAM). The pathogenesis of TSC is thought to result from mutations in either the TSC1 or TSC2 genes that encode the proteins tuberin and hamartin, respectively. These proteins interact with each other to form heterodimers, whose most important role is inhibition of the mTOR pathway. Loss of inhibition of mTORC1 leads to increased activation of this pathway and the formation of the lesions characteristic of TSC. Sporadic renal AML usually have mutations in TSC2, but not TSC1.

MalaCards based summary : Kidney Angiomyolipoma, also known as renal angiomyolipoma, is related to angiomyolipoma and hepatic angiomyolipoma. An important gene associated with Kidney Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are mTOR signaling pathway and Signaling by GPCR. The drugs Sirolimus and Everolimus have been mentioned in the context of this disorder. Affiliated tissues include kidney, smooth muscle and lung, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased 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 199)

#	Related Disease	Score	Top Affiliating Genes
1	angiomyolipoma	30.5	VEGFD TSC2 TSC1 RPS6KB1 MTOR MLANA
2	hepatic angiomyolipoma	30.3	TSC2 TSC1 MTOR MLANA
3	subependymal giant cell astrocytoma	30.2	TSC2 TSC1 RHEB MTOR KCTD1
4	congenital heart defects, hamartomas of tongue, and polysyndactyly	30.1	TSC2 TSC1 FLCN
5	obstructive hydrocephalus	30.0	TSC2 TSC1 KCTD1
6	polycystic kidney disease 1 with or without polycystic liver disease	30.0	TSC2 TSC1 MTOR
7	kidney cancer	30.0	VEGFD TSC2 TSC1 MTOR FLCN
8	cystic kidney disease	29.7	TSC2 TSC1 MTOR FLCN
9	lymphangioleiomyomatosis	29.6	VEGFD TSC2 TSC1 RPS6KB1 MTOR
10	renal cell carcinoma, nonpapillary	28.5	VEGFD TSC2 TSC1 PRCC MTOR FLCN
11	tuberous sclerosis 1	27.2	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
12	tuberous sclerosis 2	27.1	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
13	tuberous sclerosis	26.8	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
14	childhood kidney angiomyolipoma	12.5
15	liposarcoma	10.5
16	aneurysm	10.4
17	pulmonary embolism	10.4
18	uterus bicornis bicollis with partial vaginal septum and unilateral hematocolpos with ipsilateral renal agenesis	10.4
19	double uterus-hemivagina-renal agenesis	10.4
20	lissencephaly with cerebellar hypoplasia	10.3	TSC2 TSC1
21	pneumothorax	10.3
22	melanoacanthoma	10.3	MTOR MLANA
23	heart cancer	10.3	TSC2 TSC1
24	large cell acanthoma	10.3	MTOR MLANA
25	leiomyoma	10.3
26	astrocytoma	10.3
27	focal cortical dysplasia, type ii	10.2	TSC2 TSC1 MTOR
28	oncocytoma	10.2
29	wilms tumor 5	10.2
30	angiolipoma	10.2	MLANA FLCN
31	cardiovascular cancer	10.2	TSC2 MTOR MLANA
32	polycystic kidney disease	10.2
33	acute cystitis	10.2
34	clear cell renal cell carcinoma	10.2
35	retroperitoneal liposarcoma	10.2
36	connective tissue benign neoplasm	10.2	TSC2 TSC1 FLCN
37	polycystic liver disease 1 with or without kidney cysts	10.1	TSC2 TSC1 FLCN
38	corticobasal degeneration	10.1	RPS6KB1 MTOR
39	aortic disease	10.1	TSC2 TSC1 RPS6KB1
40	neurofibromatosis, type iv, of riccardi	10.1
41	multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly	10.1
42	thrombosis	10.1
43	pyelonephritis	10.1
44	leiomyosarcoma	10.1
45	perivascular epithelioid cell tumor	10.1
46	renal oncocytoma	10.1
47	adenoma	10.1
48	47,xyy	10.1
49	48,xyyy	10.1
50	back pain	10.1

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 25)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased shRNA abundance (Z-score < -2)	GR00366-A-11	9.85	MTOR
2	Decreased shRNA abundance (Z-score < -2)	GR00366-A-139	9.85	SLAMF1
3	Decreased shRNA abundance (Z-score < -2)	GR00366-A-142	9.85	PRCC
4	Decreased shRNA abundance (Z-score < -2)	GR00366-A-209	9.85	SLAMF1
5	Decreased shRNA abundance (Z-score < -2)	GR00366-A-40	9.85	FKBP1A
6	Decreased shRNA abundance (Z-score < -2)	GR00366-A-53	9.85	FKBP1A MTOR PRCC SLAMF1
7	Decreased shRNA abundance (Z-score < -2)	GR00366-A-68	9.85	FKBP1A
8	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.64	RICTOR
9	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.64	MTOR RHEB
10	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.64	TSC1
11	Increased shRNA abundance (Z-score > 2)	GR00366-A-16	9.64	MTOR RHEB
12	Increased shRNA abundance (Z-score > 2)	GR00366-A-169	9.64	RICTOR
13	Increased shRNA abundance (Z-score > 2)	GR00366-A-173	9.64	MTOR RHEB
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.64	RICTOR
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	9.64	RICTOR
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.64	MTOR RHEB RICTOR TSC1
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-57	9.64	RHEB
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.64	MTOR
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.64	RHEB
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-73	9.64	MTOR
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-82	9.64	TSC1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.64	MTOR
23	Decreased viability with paclitaxel	GR00179-A-1	9.35	MTOR RPS6KB1
24	Decreased viability with paclitaxel	GR00179-A-2	9.35	MTOR
25	Decreased viability with paclitaxel	GR00179-A-3	9.35	MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.21	EIF4EBP1 FKBP1A FLCN KCTD1 MLST8 MTOR
2	cellular	MP:0005384	10.1	EIF4EBP1 FKBP1A FLCN MTOR RHEB RICTOR
3	growth/size/body region	MP:0005378	10.1	EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
4	embryo	MP:0005380	10.07	FKBP1A FLCN MLST8 MTOR RHEB RICTOR
5	adipose tissue	MP:0005375	10	EIF4EBP1 KCTD1 MTOR RICTOR RPS6KB1 RPTOR
6	homeostasis/metabolism	MP:0005376	10	EIF4EBP1 FKBP1A FLCN MTOR RHEB RICTOR
7	mortality/aging	MP:0010768	9.93	EIF4EBP1 FKBP1A FLCN MLST8 MTOR RHEB
8	muscle	MP:0005369	9.56	EIF4EBP1 FKBP1A MTOR RHEB RICTOR RPS6KB1
9	neoplasm	MP:0002006	9.1	FLCN RICTOR RPS6KB1 TSC1 TSC2 VEGFD

Sources

Drugs & Therapeutics for Kidney Angiomyolipoma

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

(show all 17)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Sirolimus

Approved, Investigational

Phase 4

53123-88-9

5284616 6436030 46835353

Synonyms:

(-)-rapamycin

(-)-Rapamycin

1fkb

1pbk

23,27-Epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine

23,27-Epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine

23,27-epoxy-3H-pyrido[2,1-c][1,4]oxaazacyclohentriacontine-1,5,11,28,29

3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

53123-88-9

A422989, NSC226080

AC1L1JH9

AC1L7MJ9

AC1L9ZMV

AC-722

Ambotz53123-88-9

Antibiotic AY 22989

AY 22989

AY22989

AY-22989

BIDD:PXR0165

Bio1_000293

Bio1_000782

Bio1_001271

Bio2_000375

Bio2_000855

BiomolKI2_000084

C07909

C51H79NO13

CBiol_002007

CCRIS 9024

CHEBI:100923

CHEBI:9168

CHEMBL413

CID10213190

CID10795871

CID11949238

CID11959112

CID313006

CID478951

CID5040

CID5284616

CID5358081

CID5374464

CID5460439

CID5497196

CID5924240

CID6436030

CID6610270

CID6610346

CID6711160

CID6713081

CID9833581

CID9854379

CID9854380

CID9962926

CID9962928

D00753

DB00877

DE-109

DivK1c_006936

FT-0082351

heptadecahydro-9,27-dihydroxy-3-[(1R)-2-[(1S,3R,4R)-4-hydroxy

HMS2089A21

HSDB 7284

KBio1_001880

KBio2_000410

KBio2_002978

KBio2_005546

KBio3_000779

KBio3_000780

KBioGR_000410

KBioSS_000410

LCP-Siro

LMPK06000003

LS-143290

MLS000028373

MolMap_000043

MolPort-003-959-433

MS-R001

NCGC00021305-05

nchembio.100-comp4

nchembio.2007.42-comp2

nchembio.79-comp1

nchembio762-comp1

nchembio883-comp3

NCI60_001851

NCIMech_000355

NSC 226080

NSC226080

Perceiva

QTL1_000069

R0395_SIAL

R0395_SIGMA

RAP

RAPA

Rapammune

Rapamune

Rapamune (TN)

rapamycin

Rapamycin

Rapamycin (TN)

Rapamycin C-7, analog 4

Rapamycin from Streptomyces hygroscopicus

Rapamycin Immunosuppressant Drug

RPM

S1039_Selleck

SIIA 9268A

SILA 9268A

SILA9268A

sirolimus

Sirolimus

Sirolimús

Sirolimus (RAPAMUNE)

Sirolimus (USAN/INN)

Sirolimus [USAN:BAN:INN]

Sirolimus, Rapamune,Rapamycin

Sirolimusum

SMP1_000255

SMR000058564

SpecPlus_000840

UNII-W36ZG6FT64

UNM-0000358684

Wy 090217

WY-090217

Everolimus

Approved

Phase 4

159351-69-6

6442177 70789204

Synonyms:

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-Dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.04,9)hexatriaconta-16,24,26,28-tetraene-2,3,10,14,20-pentaone

(1R,9S,12S,15R,16E,23S,18R,19R,21R,23S,24E,26E,28E,30S,32S,35R)-1,18-dihydroxy-12-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-19,30-dimethoxy-15,17,21,23,29,35-hexamethyl-11,36-dioxa-4-azatricyclo(30.3.1.0(sup 4,9))hexatriacont

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34as)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethy

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-Hexadecahydro-9,27-dihydroxy-3-((1R)-2-((1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl)-1-methylethyl)-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-23,27-epoxy-3H-pyrido(2,1-c)(1,4)oxaazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

(3S,6R,7E,9R,10R,12R,14S,15E,17E,19E,21S,23S,26R,27R,34aS)-9,27-dihydroxy-3-{(2R)-1-[(1S,3R,4R)-4-(2-hydroxyethoxy)-3-methoxycyclohexyl]propan-2-yl}-10,21-dimethoxy-6,8,12,14,20,26-hexamethyl-9,10,12,13,14,21,22,23,24,25,26,27,32,33,34,34a-hexadecahydro-3H-23,27-epoxypyrido[2,1-c][1,4]oxazacyclohentriacontine-1,5,11,28,29(4H,6H,31H)-pentone

001, RAD

07741_FLUKA

159351-69-6

40-O-(2-hydroxyethyl)-rapamycin

40-O-(2-Hydroxyethyl)-rapamycin

42-O-(2-Hydroxyethyl)rapamycin

Afinitor

Certican

CERTICAN(R)

CHEMBL1201755

D02714

DB01590

everolimus

Everolimus

évérolimus

Everolimus (JAN/USAN/INN)

Everolimus [USAN]

LS-143292

MolPort-003-847-342

MolPort-003-925-588

NCGC00167512-01

NVP-RAD-001

RAD 001

RAD, SDZ

RAD001

RAD-001

RAD001, SDZ-RAD, Certican, Zortress, Afinitor, Everolimus

RAD-001C

S1120_Selleck

SDZ RAD

SDZ-RAD

UNII-9HW64Q8G6G

Zortress

Miconazole

Approved, Investigational, Vet_approved

Phase 4

22916-47-8

4189

Synonyms:

(+-)-1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-(2,4-dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl) imidazole

1-(2,4-Dichloro-beta-((2,4-dichlorobenzyl)oxy)phenethyl)imidazole

1-[2-(2,4-dichlorobenzyloxy)-2-(2,4-dichlorophenyl)ethyl]-1H-imidazole

1-[2-(2,4-Dichloro-benzyloxy)-2-(2,4-dichloro-phenyl)-ethyl]-1H-imidazole

1-[2-(2,4-Dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]-1H-imidazole

1-[2-(2,4-dichlorophenyl)-2-[(2,4-dichlorophenyl)methoxy]ethyl]imidazole

1-[2-(2,4-dichlorophenyl)-2-{[(2,4-dichlorophenyl)methyl]oxy}ethyl]-1H-imidazole

1-[2,4-Dichloro- beta-([2,4-dichloro- benzyl]oxy)phenethyl]imidazole

1-{2-[(2,4-dichlorobenzyl)oxy]-2-(2,4-dichlorophenyl)ethyl}-1H-imidazole

22832-87-7 (NITRATE)

22916-47-8

75319-47-0

AB00053500

AC1L1HM1

Aflorix(nitrate)

AKOS001574474

Albistat(nitrate)

Andergin(nitrate)

BPBio1_000279

BRD-A82396632-001-03-0

BRD-A82396632-008-02-7

Brentan

BRN 0965511

BSPBio_000253

BSPBio_002033

CCRIS 7924

CHEBI:6923

CHEMBL91

CID4189

Conofite(nitrate)

CPD-4501

D00416

Dactarin

Daktarin IV

DB01110

DivK1c_000156

EINECS 245-324-5

Epi-Monistat(nitrate)

Esteve brand OF miconazole

Femizol-M

Florid(nitrate)

Gyno-Daktar(nitrate)

HMS1568M15

HMS2090B21

I14-14342

IDI1_000156

imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl) methoxy)ethyl)- (9CI)

Imidazole, 1-(2-(2,4-dichlorophenyl)-2-((2,4-dichlorophenyl)methoxy)ethyl)- (9CI)

Janssen cilag brand OF miconazole

Janssen-cilag brand OF miconazole

Johnston and johnston brand OF miconazole nitrate

KBio1_000156

KBio2_001445

KBio2_004013

KBio2_006581

KBio3_001533

KBioGR_000581

KBioSS_001445

Lotrimin AF(nitrate)

LS-78378

MCZ

Micantin (nitrate)

Miconasil nitrate

Miconasil Nitrate

Miconazol

Miconazol [INN-Spanish]

miconazole

Miconazole

Miconazole (JP15/USP/INN)

Miconazole [USAN:BAN:INN:JAN]

Miconazole 3

Miconazole 3 Combination Pack

Miconazole 7 Combination Pack

Miconazole esteve brand

Miconazole janssen-cilag brand

Miconazole nitrate

Miconazole nitrate salt

Miconazole-7

Miconazolo

Miconazolo [DCIT]

Miconazolum

Miconazolum [INN-Latin]

Micozole

Minostate

MJR 1762

MLS002222203

MolPort-002-557-553

Monazole 7

Monista (nitrate)

Monistat

Monistat (TN)

Monistat 1 Combination Pack

Monistat 3 Dual-Pak

Monistat 3 Vaginal Ovules

Monistat 5 Tampon

Monistat 7 Dual-Pak

Monistat 7 Vaginal Suppositories

Monistat Dual- PAK

Monistat IV

Monistat iv (TN)

Monistat-Derm

NCI60_001353

NCI60_001380

NINDS_000156

Nitrate, miconasil

Nitrate, miconazole

Novo-Miconazole Vaginal Ovules

NSC 170986

NSC169434

NSC170986

Oprea1_091955

Prestwick_335

Prestwick0_000067

Prestwick1_000067

Prestwick2_000067

Prestwick3_000067

R 18134

R-14,889

SMR001307249

SPBio_000976

SPBio_002174

Spectrum_000965

Spectrum2_001048

Spectrum3_000507

Spectrum4_000061

Spectrum5_001297

STK834405

STOCK1S-93556

UNII-7NNO0D7S5M

Vusion

Zimycan

Antibiotics, Antitubercular

Phase 4

Anti-Infective Agents

Phase 4

Antifungal Agents

Phase 4

Anti-Bacterial Agents

Phase 4

Immunosuppressive Agents

Phase 4

Immunologic Factors

Phase 4

Letrozole

Approved, Investigational

Phase 2

112809-51-5

3902

Synonyms:

1-[bis(4-cyanophenyl)methyl]-1,2,4-triazole

1-[Bis-(4-cyanophenyl)methyl]-1,2,4-triazole

112809-51-5

4,4'-((1h-1,2,4-triazol-1-yl)methylene)dibenzonitrile

4,4'-(1H-1,2,4-triazol-1-ylmethanediyl)dibenzonitrile

4,4'-(1h-1,2,4-triazol-1-ylmethylene) bis-benzonitrile

4,4'-(1H-1,2,4-triazol-1-yl-methylene)-bis(benzonitrile)

4,4'-(1H-1,2,4-Triazol-1-yl-methylene)-bis(benzonitrile)

4,4'-(1h-1,2,4-triazol-1-ylmethylene)bisbenzonitrile

4,4'-(1h-1,2,4-triazol-1-ylmethylene)bis-benzonitrile

4,4'-(1H-1,2,4-triazol-1-ylmethylene)bis-Benzonitrile Letrozole

4,4'-(1H-1,2,4-Triazol-1-ylmethylene)dibenzonitrile

4-[(4-cyanophenyl)-(1,2,4-triazol-1-yl)methyl]benzonitrile

AB00514009

AC-1193

AC1L1GYT

AKOS005145822

BIDD:GT0015

BIDD:PXR0130

Bio-0057

BPBio1_001331

BRD-K88789588-001-03-2

BSPBio_001209

C067431

C08163

C17H11N5

CAS-112809-51-5

CCRIS 8822

CGS 20267

CGS 20267, Femara, Piroxicam, Letrozole

CGS-20267

CHEBI:6413

CHEMBL1444

CID3902

CPD000466343

D00964

DB01006

FEM-345

Femara

Fémara

Femara (TN)

Femera

HMS1571M11

HMS2051E08

HMS2089L22

HSDB 7461

I06-0022

Letoval

Letrozol

letrozole

Letrozole

Letrozole (JAN/USP/INN)

Letrozole [USAN:INN]

LS-38788

MLS000759455

MLS001424038

MLS002584991

MolPort-003-848-373

NCGC00016973-01

NCGC00016973-02

Novartis brand OF letrozole

Novartis Brand of Letrozole

NSC719345

Prestwick0_001025

Prestwick1_001025

Prestwick2_001025

Prestwick3_001025

S1235_Selleck

SAM001246649

SMR000466343

SPBio_003070

TL8000371

UNII-7LKK855W8I

ZINC03778874

Estrogens

Phase 2

Aromatase Inhibitors

Phase 2

Hormone Antagonists

Phase 2

Steroid Synthesis Inhibitors

Phase 2

Estrogen Receptor Antagonists

Phase 2

Estrogen Antagonists

Phase 2

Hormones

Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Phase IV, Single Arm Study of Safety and Efficacy of Everolimus in Chinese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma Not Requiring Immediate Surgery	Active, not recruiting	NCT03525834	Phase 4	everolimus
2	Phase II Single Arm Trial With Combination of Everolimus and Letrozole in Treatment of Platinum Resistant Relapse or Refractory or Persistent Ovarian Cancer/Endometrial Cancer (CRAD001CUS242T)	Unknown status	NCT02188550	Phase 2	everolimus and letrozole
3	Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma	Completed	NCT02155920	Phase 2	Everolimus
4	Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France	Recruiting	NCT02887781

Search NIH Clinical Center for Kidney Angiomyolipoma

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Genetic Tests for Kidney Angiomyolipoma

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Anatomical Context for Kidney Angiomyolipoma

MalaCards organs/tissues related to Kidney Angiomyolipoma:

⁴⁰

Kidney, Smooth Muscle, Lung, Lymph Node, Liver, Heart, Uterus

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Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1264)

#	Title	Authors	PMID	Year
1	Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. ⁵⁴ ⁶¹	Habib SL	19265534	2009
2	Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. ⁵⁴ ⁶¹	Habib SL...Thameem F	17932460	2008
3	[Tests for loss of heterozygosity in tuberous sclerosis]. ⁵⁴ ⁶¹	Jozwiak S...Grajkowska W	11355103	2001
4	Spontaneous rupture of large bilateral renal angiomyolipomas in a patient with tuberous sclerosis complex: A case report and literature review. ⁶¹	Ben Mansoura W...Mizouni H	32025496	2020
5	A CT-based radiomics nomogram for differentiation of renal angiomyolipoma without visible fat from homogeneous clear cell renal cell carcinoma. ⁶¹	Nie P...Niu H	31506816	2020
6	Radiomics of small renal masses on multiphasic CT: accuracy of machine learning-based classification models for the differentiation of renal cell carcinoma and angiomyolipoma without visible fat. ⁶¹	Yang R...Zhen X	31468159	2020
7	Favorable survival even with high disease-specific complication rates in lymphangioleiomyomatosis after lung transplantation-long-term follow-up of a Japanese center. ⁶¹	Kurosaki T...Toyooka S	31729820	2020
8	Transcatheter arterial embolization for unruptured renal angiomyolipoma using a 1.8-Fr tip microballoon catheter with a mixture of ethanol and Lipiodol. ⁶¹	Tomita K...Hasebe T	32027014	2020
9	Selective Arterial Embolization for Large or Symptomatic Renal Angiomyolipoma: 10 Years of Follow-up. ⁶¹	Anis O...Dotan ZA	31618658	2020
10	Renal angiomyolipoma-patient characteristics and treatment with focus on active surveillance. ⁶¹	Sward J...Lundstam S	31971051	2020
11	Huge renal epithelioid angiomyolipoma - A case report of a giant, benign renal mass. ⁶¹	Ghaed MA...Sohi HJ	31945544	2020
12	Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care. ⁶¹	Hatano T...Egawa S	31959574	2020
13	Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial. ⁶¹	Stelmaszewski EV...Loss KL	31983379	2020
14	Bleeding angiomyolipoma mimiking a ruptured adrenal tumour. ⁶¹	Nerli RB...Hiremath MB	31641611	2020
15	Notch sign in renal angiomyolipoma. ⁶¹	Milosevic S...Djuric-Stefanovic A	31970438	2020
16	Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus. ⁶¹	Wang T...Xing J	31597506	2020
17	PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). ⁶¹	Valencia-Guerrero A...Hirsch MS	31851063	2019
18	Application of Everolimus in Preoperative Neoadjuvant Therapy of Tuberous Sclerosis Complex Associated With Renal Angiomyolipoma: A Single-Center Report of 5 Cases. ⁶¹	Guo G...Zhang X	31601513	2019
19	Renal angiomyolipoma (AML) harboring a missense mutation of TSC2 with copy-neutral loss of heterozygosity (CN-LOH). ⁶¹	Idogawa M...Natori H	31847710	2019
20	[A Case of Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus Associated with Tuberous Sclerosis Complex Diagnosed by Intra-Abdominal Bleeding from the Uterus]. ⁶¹	Taniguchi A...Ueda Y	31902183	2019
21	[Rapamycin in the treatment of renal diseases associated with tuberous sclerosis complex]. ⁶¹	Dun S...Wang B	31665839	2019
22	Differentiation of renal angiomyolipoma without visible fat from renal cell carcinoma by machine learning based on whole-tumor computed tomography texture features. ⁶¹	Cui EM...Long WS	30799634	2019
23	Cytological features of a renal angiomyolipoma in a child-A case report. ⁶¹	Jain K...Datta C	31293099	2019
24	Epithelioid angiomyolipoma with tumor thrombus. ⁶¹	Smentkowski K...Kelly D	31629448	2019
25	Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy. ⁶¹	Ni J...Wu G	31586081	2019
26	How many surgically-treated angiomyolipomas are related to tuberous sclerosis complex? Insights from a retrospective multicenter study. ⁶¹	Champy CM...Roupret M	31619031	2019
27	Snuff box radial access in transcatheter arterial embolization for unruptured renal angiomyolipoma. ⁶¹	Matsumoto T...Yamagami T	31536429	2019
28	[Review of upper urinary modified minimal invasive surgical technology]. ⁶¹	Ding GP...Zhou LQ	31420609	2019
29	Renal angiomyolipoma. ⁶¹	Caliskan S...Ozturk MI	31389508	2019
30	A case report of giant hamartoma of both kidneys with spontaneous rupture and hemorrhage in a pregnant woman: A case report. ⁶¹	Gao CM...Ma Y	31338191	2019
31	New MRI series for kidney evaluation: Saving time and money. ⁶¹	Renzulli M...Golfieri R	31046410	2019
32	[Intratumoral endometriosis in renal angiomyolipomas associated to medium vessel necrotizing vasculitis in a patient with Wünderlich syndrome. A rare finding]. ⁶¹	Quimbayo-Arcila C...Orradre-Romeo J	31213263	2019
33	Outcome of Live-Donor Renal Transplants With Incidentally Diagnosed Renal Angiomyolipoma in the Donor. ⁶¹	Zahran MH...Ali-El-Dein B	31255355	2019
34	Everolimus compliance and persistence among tuberous sclerosis complex patients with renal angiomyolipoma or subependymal giant cell astrocytoma. ⁶¹	Song X...Bissler J	30550347	2019
35	Effect of everolimus on renal function in patients with tuberous sclerosis complex: evidence from EXIST-1 and EXIST-2. ⁶¹	Bissler JJ...Christopher Kingswood J	30053159	2019
36	[The Efficacy of Everolimus for Refractory Seizures in Childhood Onset Epilepsy with Tuberous Sclerosis Complex]. ⁶¹	Okanishi T...Enoki H	31171758	2019
37	Can we predict the existence of extrarenal feeders to renal angiomyolipomas? ⁶¹	Zhang X...Kato H	30542748	2019
38	New radiologic classification of renal angiomyolipoma: frequently asked questions. ⁶¹	Park SG...Park BK	30825810	2019
39	Percutaneous nephrolithotomy of a staghorn calculus in a patient with renal angiomyolipoma. ⁶¹	Jalal A...Al Arrayedh S	31040616	2019
40	Wunderlich syndrome, spontaneous ruptured renal angiomyolipoma and tuberous sclerosis. ⁶¹	Ho TH...Lee JT	30629244	2019
41	Renal and adrenal masses containing fat at MRI: Proposed nomenclature by the society of abdominal radiology disease-focused panel on renal cell carcinoma. ⁶¹	Schieda N...Silverman SG	30693607	2019
42	Renal Angiomyolipoma Based on New Classification: How to Differentiate It From Renal Cell Carcinoma. ⁶¹	Park BK	30620673	2019
43	Continuous low-dose everolimus shrinkage tuberous sclerosis complex-associated renal angiomyolipoma: a 48-month follow-up study. ⁶¹	Wei CC...Tsai JD	30455224	2019
44	Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. ⁶¹	Kingswood JC...Jansen AC	29697822	2019
45	Embolization of Ruptured Renal Angiomyolipoma in Puerpera. ⁶¹	Goes Junior AMO...Santos DASD	30868552	2019
46	Trans-Radial Embolization of Bleeding Renal Angiomyolipoma in Pregnant 30-Year-Old Female - A Case Report. ⁶¹	Scharf Z...Kim AY	31565170	2019
47	Coexistent sarcoidosis and lymphangioleiomyomatosis in a patient with cystic lung disease. ⁶¹	Cullivan S...Murphy DM	30519468	2019
48	Evidence for a role of geranylgeranylation in renal angiomyolipoma and renal epithelioid angiomyolipoma. ⁶¹	Zhao DD...Xue B	30675208	2019
49	Lymphangioleiomyomatosis. ⁶¹	Doubkova M...Svoboda M	31610670	2019
50	Clinical behavior and management of three types of renal angiomyolipomas. ⁶¹	Lee KH...Chuang CK	29549981	2019

Sources

Genes for Kidney Angiomyolipoma

Genes related to Kidney Angiomyolipoma (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TSC1	TSC Complex Subunit 1	Protein Coding	19.14	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17932460 11355103 19265534
2	TSC2	TSC Complex Subunit 2	Protein Coding	19	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	12192641 11355103 19005330 (more) 19265534
3	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	13.59	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
4	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	8	DISEASES inferred ¹⁵
5	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	7.46	DISEASES inferred ¹⁵
6	MLANA	Melan-A	Protein Coding	6.84	DISEASES inferred ¹⁵
7	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	6.68	DISEASES inferred ¹⁵
8	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	6.54	DISEASES inferred ¹⁵
9	FLCN	Folliculin	Protein Coding	6.36	DISEASES inferred ¹⁵
10	KCTD1	Potassium Channel Tetramerization Domain Containing 1	Protein Coding	6.32	DISEASES inferred ¹⁵
11	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	6.32	DISEASES inferred ¹⁵
12	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	6.12	DISEASES inferred ¹⁵
13	SLAMF1	Signaling Lymphocytic Activation Molecule Family Member 1	Protein Coding	6.05	DISEASES inferred ¹⁵
14	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	6.02	DISEASES inferred ¹⁵
15	PRCC	Proline Rich Mitotic Checkpoint Control Factor	Protein Coding	5.89	DISEASES inferred ¹⁵
16	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	5.85	DISEASES inferred ¹⁵
17	MLST8	MTOR Associated Protein, LST8 Homolog	Protein Coding	5.79	DISEASES inferred ¹⁵

Sources

Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

⁶ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	TSC1	NM_000368.4(TSC1):c.359T>C (p.Leu120Pro)	SNV	Uncertain significance	523362	rs1554820262	9:135800978-135800978	9:132925591-132925591

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:

³⁶

#	Name	Kegg Source Accession
1	mTOR signaling pathway	hsa04150

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

(show top 50) (show all 55)

#	Super pathways	Score	Top Affiliating Genes
1	Signaling by GPCR ⁶⁵ Show member pathways GPCR downstream signaling ⁶⁵ Signal Transduction ⁶⁵	14.15	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
2	Gene Expression ⁶⁵ Show member pathways Generic Transcription Pathway ⁶⁵	13.79	TSC2 TSC1 RPTOR RICTOR RHEB PRCC
3	Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. ⁶⁵ Show member pathways Alzheimer disease ³⁶ Alzheimers Disease ¹ Complex I biogenesis ⁶⁵ Electron Transport Chain ¹ Formation of ATP by chemiosmotic coupling ⁶⁵ Huntington disease ³⁶ Non-alcoholic fatty liver disease (NAFLD) ³⁶ Oxidative phosphorylation ³⁶ Oxidative phosphorylation ¹ Parkinson disease ³⁶ Respiratory electron transport ⁶⁵ The citric acid (TCA) cycle and respiratory electron transport ⁶⁵ Thermogenesis ³⁶	13.52	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
4	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular responses to stress ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵ Senescence-Associated Secretory Phenotype (SASP) ⁶⁵	13.12	TSC2 TSC1 RPTOR RHEB MTOR MLST8
5	p70S6K Signaling ⁶³ Show member pathways mTOR Pathway ⁶³ Renin-Angiotensin Pathway ⁶³	13.08	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RICTOR
6	PI3K-Akt signaling pathway ³⁶ Show member pathways Human papillomavirus infection ³⁶	13.05	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RHEB
7	Regulation of TP53 Activity ⁶⁵ Show member pathways Regulation of TP53 Activity through Association with Co-factors ⁶⁵ Regulation of TP53 Activity through Methylation ⁶⁵ Regulation of TP53 Activity through Phosphorylation ⁶⁵ Transcriptional Regulation by TP53 ⁶⁵	12.99	TSC2 TSC1 RPTOR RICTOR RHEB MTOR
8	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 ³⁶ IRS activation ⁶⁵ Signal attenuation ⁶⁵ Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation Insulin regulation of translation ²²	12.94	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
9	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.93	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
10	Endometrial cancer ³⁶ Show member pathways Acute myeloid leukemia ³⁶ Binding of TCF/LEF-CTNNB1 to target gene promoters ⁶⁵ Chronic myeloid leukemia ³⁶ Colorectal cancer ³⁶ Pancreatic cancer ³⁶ Prostate cancer ³⁶ Signal transduction PTEN pathway ²² Thyroid cancer ³⁶	12.84	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
11	Herpes simplex virus 1 infection ³⁶	12.78	TSC2 TSC1 RHEB MTOR EIF4EBP1
12	ErbB signaling pathway ¹ ³⁶ Show member pathways EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ³⁶ Renal cell carcinoma ³⁶ TCA Cycle Nutrient Utilization and Invasiveness of Ovarian Cancer ¹	12.63	RPS6KB1 PRCC MTOR FLCN EIF4EBP1
13	Glioma ³⁶ Show member pathways Endocrine resistance ³⁶ Melanoma ³⁶ Non-small cell lung cancer ³⁶ Signaling Pathways in Glioblastoma ¹	12.61	TSC2 TSC1 RPS6KB1 MTOR
14	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 ³⁶ Inflammatory mediator regulation of TRP channels ³⁶	12.6	TSC2 RPS6KB1 RHEB MTOR
15	Angiopoietin Like Protein 8 Regulatory Pathway ¹ Show member pathways Insulin Signaling ¹ Liver X Receptor Pathway ¹	12.57	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
16	AMP-activated Protein Kinase (AMPK) Signaling ¹ Show member pathways AMPK signaling pathway ³⁶ AMPK Signaling Pathway ⁶⁶	12.52	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
17	Phospholipase D signaling pathway ³⁶ Show member pathways Choline metabolism in cancer ³⁶	12.47	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
18	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	12.46	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1
19	Type I Interferon Signaling Pathways ⁶⁴ Show member pathways Interferon Pathway ⁶³ Type II Interferon Signaling Pathways ⁶⁴	12.33	TSC2 TSC1 RPS6KB1 MTOR EIF4EBP1
20	AMPK Enzyme Complex Pathway ⁶³ Show member pathways Chromatin Remodeling ⁶³ mitochondrial L-carnitine shuttle ¹	12.3	TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
21	mTOR signalling ⁶⁵ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁵ Inhibition of TSC complex formation by PKB ⁶⁵ mTORC1-mediated signalling ⁶⁵ PDE3B signalling ⁶⁵ PI3K Cascade ⁶⁵ PKB-mediated events ⁶⁵ Target Of Rapamycin (TOR) Signaling ¹	12.25	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
22	Autophagy Pathway ⁶⁴ Show member pathways Autophagy - other ³⁶ Macroautophagy ⁶⁵ Nanoparticle triggered autophagic cell death ¹	12.24	TSC2 TSC1 RPTOR RHEB MTOR MLST8
23	MAPK Signaling: Mitogen Stimulation Pathway ⁶⁴ Show member pathways Akt Signaling Pathway ⁶⁴	12.24	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
24	Longevity regulating pathway ³⁶ Show member pathways Longevity regulating pathway - multiple species ³⁶	12.23	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
25	Cellular senescence (KEGG) ³⁶	12.22	TSC2 TSC1 RHEB MTOR EIF4EBP1
26	EGF/EGFR Signaling Pathway ¹	12.2	RPS6KB1 RICTOR MTOR EIF4EBP1
27	Translational Control ⁴	12.19	TSC2 TSC1 RPTOR RPS6KB1 RICTOR MTOR
28	Autophagy - animal ³⁶	12.18	TSC2 TSC1 RPTOR RPS6KB1 RHEB MTOR
29	Integrated Breast Cancer Pathway ¹	12.17	TSC2 TSC1 RHEB MTOR
30	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.14	TSC2 RPS6KB1 MTOR EIF4EBP1
31	Brain-Derived Neurotrophic Factor (BDNF) signaling pathway ¹	12.13	TSC2 RPS6KB1 MTOR EIF4EBP1
32	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	12.09	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
33	Glioblastoma Multiforme ⁶³	12	TSC2 TSC1 RPS6KB1 MTOR
34	Thyroid hormone signaling pathway ³⁶	11.97	TSC2 RHEB MTOR
35	TP53 Regulates Metabolic Genes ⁶⁵	11.94	TSC2 TSC1 RPTOR RHEB MTOR MLST8
36	HIF-1 signaling pathway ³⁶	11.92	RPS6KB1 MTOR EIF4EBP1
37	PI3K / Akt Signaling ⁴	11.91	TSC2 TSC1 TBC1D7 RHEB
38	ErbB1 downstream signaling ¹	11.89	RICTOR MTOR MLST8
39	Constitutive Signaling by AKT1 E17K in Cancer ⁶⁵ Show member pathways AKT phosphorylates targets in the cytosol ⁶⁵ AKT phosphorylates targets in the nucleus ⁶⁵ AKT-mediated inactivation of FOXO1A ⁶⁵ Class I PI3K signaling events mediated by Akt ¹	11.87	TSC2 RICTOR MTOR MLST8
40	mTOR signaling pathway (KEGG) ⁶⁴ Show member pathways mTOR signaling pathway ³⁶	11.83	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
41	CXCR4-mediated signaling events ¹	11.75	RICTOR MTOR MLST8
42	Regulation of TP53 Expression and Degradation ⁶⁵ Show member pathways Regulation of TP53 Degradation ⁶⁵ Regulation of TP53 Expression ⁶⁵	11.73	RICTOR MTOR MLST8
43	Interferon type I signaling pathways ¹	11.71	RPTOR RPS6KB1 MTOR MLST8 EIF4EBP1
44	Wnt Signaling Pathway Netpath ¹	11.59	TSC2 TSC1 MTOR
45	LKB1 signaling events ¹	11.57	TSC2 TSC1 RPTOR MTOR MLST8
46	TBC/RABGAPs ⁶⁵	11.53	TSC2 TSC1 TBC1D7
47	HSF1-dependent transactivation ⁶⁵ Show member pathways Attenuation phase ⁶⁵ Viral RNP Complexes in the Host Cell Nucleus ⁶⁵	11.44	RPTOR MTOR MLST8
48	mTOR signaling pathway (Pathway Interaction Database) ¹	11.39	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
49	CXCR3-mediated signaling events ¹	11.36	RICTOR MTOR MLST8
50	BDNF-TrkB Signaling ¹	11.36	TSC2 TSC1 RPS6KB1 RHEB MTOR EIF4EBP1

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	cytosol	GO:0005829	10.07	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
2	lysosome	GO:0005764	9.67	TSC2 RPTOR MTOR FLCN
3	postsynaptic cytosol	GO:0099524	9.32	MTOR EIF4EBP1
4	TSC1-TSC2 complex	GO:0033596	9.16	TSC2 TSC1
5	TORC2 complex	GO:0031932	9.13	RICTOR MTOR MLST8
6	TORC1 complex	GO:0031931	8.8	RPTOR MTOR MLST8

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

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	regulation of translation	GO:0006417	9.8	TSC1 RPS6KB1 EIF4EBP1
2	cell cycle arrest	GO:0007050	9.76	RPTOR RHEB MTOR MLST8
3	positive regulation of peptidyl-tyrosine phosphorylation	GO:0050731	9.75	RICTOR MTOR MLST8
4	regulation of GTPase activity	GO:0043087	9.74	RICTOR MTOR MLST8
5	regulation of cellular response to heat	GO:1900034	9.69	RPTOR MTOR MLST8
6	regulation of actin cytoskeleton organization	GO:0032956	9.67	RICTOR MTOR MLST8
7	positive regulation of endothelial cell proliferation	GO:0001938	9.67	VEGFD RPTOR RICTOR MTOR
8	positive regulation of actin filament polymerization	GO:0030838	9.65	RICTOR MTOR MLST8
9	regulation of cell size	GO:0008361	9.62	RPTOR MTOR
10	positive regulation of oligodendrocyte differentiation	GO:0048714	9.62	RHEB MTOR
11	regulation of macroautophagy	GO:0016241	9.62	RPTOR RHEB MTOR MLST8
12	regulation of TOR signaling	GO:0032006	9.61	RHEB FLCN
13	regulation of phosphorylation	GO:0042325	9.61	RPTOR RICTOR
14	negative regulation of insulin receptor signaling pathway	GO:0046627	9.61	TSC2 TSC1 RPS6KB1
15	regulation of protein kinase B signaling	GO:0051896	9.6	RICTOR MTOR
16	cellular response to nutrient levels	GO:0031669	9.59	RPTOR MTOR
17	negative regulation of macroautophagy	GO:0016242	9.58	TSC1 MTOR
18	activation of protein kinase B activity	GO:0032148	9.58	RICTOR MTOR MLST8
19	anoikis	GO:0043276	9.56	TSC2 MTOR
20	cellular response to leucine	GO:0071233	9.55	RPTOR MTOR
21	positive regulation of transcription by RNA polymerase III	GO:0045945	9.54	RPTOR MTOR
22	negative regulation of cell size	GO:0045792	9.52	TSC1 MTOR
23	negative regulation of TOR signaling	GO:0032007	9.46	TSC2 TSC1 TBC1D7 FLCN
24	TORC1 signaling	GO:0038202	9.43	RPTOR MTOR MLST8
25	positive regulation of TOR signaling	GO:0032008	9.35	RPTOR RICTOR RHEB MLST8 FLCN
26	TOR signaling	GO:0031929	9.17	RPTOR RPS6KB1 RICTOR MTOR MLST8 FLCN

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

#	Name	GO ID	Score	Top Affiliating Genes
1	protein binding	GO:0005515	9.55	VEGFD TSC2 TSC1 TBC1D7 SLAMF1 RPTOR
2	RNA polymerase III type 3 promoter DNA binding	GO:0001032	9.32	RPTOR MTOR
3	TFIIIC-class transcription factor complex binding	GO:0001156	9.26	RPTOR MTOR
4	RNA polymerase III type 2 promoter DNA binding	GO:0001031	9.16	RPTOR MTOR
5	RNA polymerase III type 1 promoter DNA binding	GO:0001030	8.96	RPTOR MTOR

Sources

Sources for Kidney 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 EFO

¹⁸ ExPASy

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 HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia