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

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Aliases & Classifications for Kidney Angiomyolipoma

MalaCards integrated aliases for Kidney Angiomyolipoma:

Name: Kidney Angiomyolipoma ¹¹ ⁵³ ⁵ ¹⁴ ¹⁶

Angiomyolipoma of Kidney ¹¹ ⁷¹

Renal Angiomyolipoma ¹¹

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:8411

NCIt ⁴⁹ C3888

SNOMED-CT ⁶⁸ 254921004

EFO ¹⁶ EFO_1000312

UMLS ⁷¹ C0241961

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Summaries for Kidney Angiomyolipoma

MalaCards based summary: Kidney Angiomyolipoma, also known as angiomyolipoma of kidney, is related to tuberous sclerosis 1 and lymphangioleiomyomatosis. An important gene associated with Kidney Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are Signal Transduction and Peptide chain elongation. The drugs Everolimus and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and liver, and related phenotypes are Decreased viability 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 257)

#	Related Disease	Score	Top Affiliating Genes
1	tuberous sclerosis 1	30.7	TSC2 TSC1
2	lymphangioleiomyomatosis	30.7	VEGFD TSC2 TSC1 RPS6KB1 RPS6 MTOR
3	polycystic kidney disease 1 with or without polycystic liver disease	30.4	TSC2 TSC1 MTOR
4	liver lipoma	30.2	TSC2 TSC1
5	angiomyolipoma	30.1	VEGFD TSC2 TSC1 TFE3 MTOR MLANA
6	bap1 tumor predisposition syndrome	30.0	TSC2 TSC1 MITF FLCN
7	renal oncocytoma	30.0	TFE3 FNIP1 FLCN
8	kidney cancer	30.0	TSC2 TSC1 MTOR FLCN
9	angiolipoma	29.9	TSC2 TSC1 MLANA FLCN
10	inherited cancer-predisposing syndrome	29.9	TSC2 TSC1 MITF FLCN
11	heart cancer	29.9	TSC2 TSC1
12	perivascular epithelioid cell tumor	29.9	TSC2 TSC1 TFE3 MTOR MLANA MITF
13	hepatic angiomyolipoma	29.9	TSC2 TSC1 TFE3 MLANA MITF
14	polycystic kidney disease	29.8	TSC2 TSC1 MTOR AKT1
15	cystic kidney disease	29.8	TSC2 TSC1 MTOR FLCN AKT1
16	alveolar soft part sarcoma	29.7	TFE3 MLANA MITF
17	autosomal dominant polycystic kidney disease	29.7	TSC2 TSC1 MTOR AKT1
18	hemangioma	29.7	TSC2 TSC1 MTOR AKT1
19	vascular cancer	29.6	TSC2 TFE3 MLANA MITF
20	epithelioid type angiomyolipoma	29.5	TSC2 TSC1 TFE3 MLANA MITF
21	birt-hogg-dube syndrome	29.4	VEGFD TSC2 TSC1 TFE3 MTOR FNIP1
22	renal cell carcinoma, nonpapillary	29.4	VEGFD TSC2 TSC1 TFE3 RHEB MTOR
23	neurilemmoma	29.3	MLANA MITF AKT1
24	chromophobe renal cell carcinoma	28.9	TFE3 MTOR FNIP1 FLCN AKT1
25	renal cell carcinoma, papillary, 1	28.8	TFE3 RHEB MTOR MITF FNIP1 FLCN
26	subependymal giant cell astrocytoma	28.2	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RICTOR
27	tuberous sclerosis	28.0	TSC2 TSC1 TBC1D7 RPTOR RPS6KB1 RPS6
28	childhood kidney angiomyolipoma	11.4
29	double uterus-hemivagina-renal agenesis	11.2
30	collecting duct carcinoma	10.7
31	liposarcoma	10.5
32	pulmonary embolism	10.4
33	glioma susceptibility 1	10.3
34	pneumothorax, primary spontaneous	10.3
35	pneumothorax	10.3
36	vascular disease	10.3
37	tuberous sclerosis 2	10.3
38	perivascular epithelioid cell neoplasm	10.3
39	congenital heart defects, hamartomas of tongue, and polysyndactyly	10.3	TSC2 TSC1
40	generalized lymphatic anomaly	10.2	VEGFD MTOR
41	exudative vitreoretinopathy 6	10.2	MTOR FKBP1A
42	focal cortical dysplasia, type ii	10.2	TSC2 TSC1 MTOR
43	corneal dystrophy, fleck	10.2	TSC2 TSC1 MTOR
44	cutaneous leiomyosarcoma	10.2	MLANA FLCN
45	oncocytoma	10.2
46	leiomyoma	10.2
47	retroperitoneal liposarcoma	10.2
48	connective tissue benign neoplasm	10.2	TSC2 TSC1 MLANA
49	hemimegalencephaly	10.2	RHEB MTOR
50	polycystic liver disease 1 with or without kidney cysts	10.2	TSC2 TSC1 FLCN

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:

²⁵ (show all 31)

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00055-A-1	10.13	MTOR
2	Decreased viability	GR00055-A-2	10.13	MTOR
3	Decreased viability	GR00221-A-1	10.13	AKT1 MLST8 MTOR RHEB RPS6KB1
4	Decreased viability	GR00221-A-2	10.13	AKT1
5	Decreased viability	GR00221-A-3	10.13	AKT1
6	Decreased viability	GR00221-A-4	10.13	AKT1 MLST8 MTOR
7	Decreased viability	GR00249-S	10.13	AKT1
8	Decreased viability	GR00301-A	10.13	RPS6KB1
9	Decreased viability	GR00342-S-1	10.13	MTOR
10	Decreased viability	GR00342-S-2	10.13	MTOR
11	Decreased viability	GR00381-A-1	10.13	RPS6KB1
12	Decreased viability	GR00386-A-1	10.13	RHEB
13	Decreased viability	GR00402-S-2	10.13	RPS6KB1
14	Increased shRNA abundance (Z-score > 2)	GR00366-A-102	9.58	RICTOR
15	Increased shRNA abundance (Z-score > 2)	GR00366-A-104	9.58	RICTOR
16	Increased shRNA abundance (Z-score > 2)	GR00366-A-105	9.58	MTOR RHEB
17	Increased shRNA abundance (Z-score > 2)	GR00366-A-116	9.58	TSC1
18	Increased shRNA abundance (Z-score > 2)	GR00366-A-127	9.58	TSC1
19	Increased shRNA abundance (Z-score > 2)	GR00366-A-189	9.58	RICTOR
20	Increased shRNA abundance (Z-score > 2)	GR00366-A-211	9.58	RICTOR
21	Increased shRNA abundance (Z-score > 2)	GR00366-A-213	9.58	AKT1
22	Increased shRNA abundance (Z-score > 2)	GR00366-A-27	9.58	RICTOR
23	Increased shRNA abundance (Z-score > 2)	GR00366-A-42	9.58	TSC1
24	Increased shRNA abundance (Z-score > 2)	GR00366-A-58	9.58	RICTOR
25	Increased shRNA abundance (Z-score > 2)	GR00366-A-60	9.58	AKT1 MTOR
26	Increased shRNA abundance (Z-score > 2)	GR00366-A-63	9.58	RHEB
27	Increased shRNA abundance (Z-score > 2)	GR00366-A-70	9.58	AKT1
28	Increased shRNA abundance (Z-score > 2)	GR00366-A-85	9.58	AKT1 MTOR
29	Decreased viability with paclitaxel	GR00179-A-1	9.35	MTOR RPS6KB1
30	Decreased viability with paclitaxel	GR00179-A-2	9.35	MTOR
31	Decreased viability with paclitaxel	GR00179-A-3	9.35	MTOR RPS6KB1

MGI Mouse Phenotypes related to Kidney Angiomyolipoma:

⁴⁵ (show all 13)

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	homeostasis/metabolism	MP:0005376	10.31	AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MITF
2	growth/size/body region	MP:0005378	10.3	AKT1 EIF4EBP1 FKBP1A FLCN MITF MLST8
3	muscle	MP:0005369	10.22	AKT1 EIF4EBP1 FKBP1A FNIP1 MTOR RHEB
4	neoplasm	MP:0002006	10.11	AKT1 FLCN FNIP1 RICTOR RPS6KB1 TSC1
5	liver/biliary system	MP:0005370	10.11	AKT1 FKBP1A FNIP1 MITF RICTOR RPS6
6	normal	MP:0002873	10.1	AKT1 FKBP1A MITF MTOR RHEB TFE3
7	embryo	MP:0005380	10.03	AKT1 FKBP1A FLCN MITF MLST8 MTOR
8	endocrine/exocrine gland	MP:0005379	10.02	AKT1 MITF MTOR RHEB RICTOR RPS6
9	cellular	MP:0005384	10	AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MITF
10	adipose tissue	MP:0005375	9.98	AKT1 EIF4EBP1 MTOR RICTOR RPS6KB1 RPTOR
11	pigmentation	MP:0001186	9.92	MITF MLANA RPS6 TFE3 TSC1
12	cardiovascular system	MP:0005385	9.8	AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8
13	mortality/aging	MP:0010768	9.53	AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MITF

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Drugs & Therapeutics for Kidney Angiomyolipoma

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

(show all 13)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Everolimus

Approved

Phase 4

159351-69-6

70789204 6442177

2

Immunosuppressive Agents

Phase 4

3

Immunologic Factors

Phase 4

4

Liver Extracts

Phase 4

5

Sirolimus

Approved, Investigational

Phase 2

53123-88-9

5284616 6436030

6

Benzocaine

Approved, Investigational

Phase 2

1994-09-7, 94-09-7

2337

7

Tannic acid

Approved

Phase 2

1401-55-4

16129878 16129778

8

Miconazole

Approved, Investigational, Vet_approved

Phase 2

22916-47-8

4189

9

Clotrimazole

Approved, Vet_approved

Phase 2

23593-75-1

2812

10

Anti-Bacterial Agents

Phase 2

11

Anti-Infective Agents

Phase 2

12

Antifungal Agents

Phase 2

13

Antibiotics, Antitubercular

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	Completed	NCT03525834	Phase 4	Everolimus
2	Phase IV, Prospective Single Arm Study of Safety and Efficacy of Votubia (Everolimus) in Taiwanese Adults With Tuberous Sclerosis Complex Who Have Renal Angiomyolipoma	Not yet recruiting	NCT05252585	Phase 4	Everolimus
3	A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients	Completed	NCT00126672	Phase 2	Rapamycin
4	Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France	Unknown status	NCT02887781
5	Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol	Active, not recruiting	NCT02654340

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

Organs/tissues related to Kidney Angiomyolipoma:

MalaCards : Kidney, Lymph Node, Liver, Smooth Muscle, Lung, Uterus, Colon

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Publications for Kidney Angiomyolipoma

Articles related to Kidney Angiomyolipoma:

(show top 50) (show all 1440)

#	Title	Authors	PMID	Year
1	Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. ⁵³ ⁶²	Habib SL	19265534	2009
2	Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. ⁵³ ⁶²	Habib SL...Thameem F	17932460	2008
3	[Tests for loss of heterozygosity in tuberous sclerosis]. ⁵³ ⁶²	Jozwiak S...Grajkowska W	11355103	2001
4	Construction of TSC2 knockout cell line using CRISPR/Cas9 system and demonstration of its effects on NIH-3T3 cells. ⁶²	Wang X...Zhang Y	36181622	2022
5	A Clinical Challenge Case of Bilateral Giant Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex. ⁶²	Tang G...Dong P	35963394	2022
6	A multi‑omics study of diagnostic markers and the unique inflammatory tumor micro‑environment involved in tuberous sclerosis complex‑related renal angiomyolipoma. ⁶²	Wang Z...Zhang Y	36111504	2022
7	Lipid-Poor Renal Angiomyolipoma Mimicking Renal Cell Carcinoma on 68 Ga-FAPI-04 PET/CT. ⁶²	Dong A...Zuo C	35619202	2022
8	Huge Renal Angiomyolipoma Mimicking a Renal Cell Carcinoma: A Case Report. ⁶²	Devasilpa Raju PD...Nagdev G	36348861	2022
9	Eosinophilic solid and cystic renal cell carcinoma: a review of literature focused on radiological findings and differential diagnosis. ⁶²	Yi M...Liu Y	36222870	2022
10	Surgical Conundrum: A Case of Giant Renal Angiomyolipoma Abutting Inferior Vena Cava With Haemorrhage. ⁶²	Sahu S...Chauhan DR	36381741	2022
11	Genotype/phenotype correlation in 123 Chinese patients with Tuberous Sclerosis Complex. ⁶²	Ng SY...Lo IF	35918040	2022
12	Outcome and surgical management of symptomatic renal angiomyolipoma in Ibadan, Nigeria, Sub-Saharan Africa. ⁶²	Takure AO...Okolo CA	36308230	2022
13	Kruppel-like Factor 2 Inhibits Proliferation in Renal Angiomyolipoma via IL-6/JAK/STAT3 Signaling Pathway. ⁶²	Liu CY...Chuang CK	36191984	2022
14	Safety, Efficacy, and Predictors for Late Reintervention After Embolization of Renal Angiomyolipomas - Embolization renal angiomyolipoma. ⁶²	Claesen E...Maleux G	36270316	2022
15	Recurrent retroperitoneal extra-renal angiomyolipoma: A case report and review of literature. ⁶²	Mohammadzadeh N...Ghasemlouei A	36147106	2022
16	Postembolization rupture of a renal angiomyolipoma. ⁶²	Veiga C...Almeida R	35812124	2022
17	Prophylactic renal artery embolization before pregnancy in patients with lymphangioleiomyomatosis and renal angiomyolipoma. ⁶²	Toei H...Kuwatsuru R	36124884	2022
18	Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. ⁶²	Klonowska K...Kwiatkowski DJ	34635572	2022
19	Pulmonary lymphangioleiomyomatosis and renal angiomyolipoma in a patient with systemic lupus erythematosus: A case report. ⁶²	Koh JS...Chung C	36197220	2022
20	Subcutaneous axillary primary epithelioid hemangioendothelioma: report of a rare case. ⁶²	Niwa T...Seto Y	36083389	2022
21	[A discrimination model for differentiation of renal cell carcinoma from renal angiomyolipoma without visible fat: based on hierarchical fusion framework of multi-classifier]. ⁶²	Mo T...Zhen X	36073216	2022
22	Therapeutic effect of everolimus on small renal angiomyolipoma in cases of tuberous sclerosis complex-related epilepsy and subependymal giant cell astrocytoma. ⁶²	Hatano T...Yuri Y	36031512	2022
23	A massive retroperitoneal mature teratoma from a "burned-out" testicular teratoma and seminoma. ⁶²	Valentino WL...Wei J	35669228	2022
24	Anesthetics management of a renal angiomyolipoma using pulse pressure variation and non-invasive cardiac output monitoring: A case report. ⁶²	Jeon WJ...Cho SY	36157820	2022
25	Spontaneous rupture of renal angiomyolipoma and its management: A case report. ⁶²	Thapa N...Karki S	35860139	2022
26	Tuberous sclerosis complex with skin lesions as the initial presentation: A case report and multidisciplinary discussion. ⁶²	Deng S...Liu Y	36039596	2022
27	Individualized everolimus treatment for tuberous sclerosis-related angiomyolipoma promotes treatment adherence and response. ⁶²	Chung NKX...Ong ACM	35754971	2022
28	A Pilot First-in-Human Study of Embrace, a Polyethylene Glycol-Based Liquid Embolic Agent, in the Embolization of Malignant and Benign Hypervascular Tumors. ⁶²	Goh GS...Holden A	35278638	2022
29	Are nephrometry scores accurate for the prediction of outcomes in patients with renal angiomyolipoma treated with robot-assisted partial nephrectomy? A multi-institutional analysis. ⁶²	Uleri A...Buffi N	35622350	2022
30	Transarterial Embolization for Sporadic Renal Angiomyolipoma: Patient Selection and Technical Considerations for Optimal Therapeutic Outcomes. ⁶²	Jung Y...Seo Y	36238509	2022
31	Management of adult tuberous sclerosis complex-related angiomyolipoma: A single-center experience. ⁶²	Li T...Kapoor A	34941491	2022
32	Birt-Hogg-Dubé syndrome encountered at rare lung disease clinic in Anhui province, China. ⁶²	Zhang G...Hu X	35578266	2022
33	The clinical and paraclinical manifestations of tuberous sclerosis complex in children. ⁶²	Barzegar M...Ebadi Z	33738777	2022
34	Tuberous sclerosis complex: a complex case. ⁶²	Powell RM...Macaulay EC	35483879	2022
35	Adults with tuberous sclerosis complex: A distinct patient population. ⁶²	Bachour K...Keezer MR	34967000	2022
36	Increased 18F-ALF-NOTA-FAPI and 18F-FDG Uptake in Renal Angiomyolipoma. ⁶²	Guo YH...Yang MF	35025794	2022
37	Use of Microballoon Catheter in Transarterial Ethanol Embolization of Renal Angiomyolipoma: A Retrospective Comparative Study with Historical Control? ⁶²	Taniguchi J...Yamakado K	35911873	2022
38	A Rare Case of Synchronous Oncocytoma and Angiomyolipoma of the Kidney. ⁶²	Younes AI...Dal Zotto VL	35228507	2022
39	Active Surveillance for Renal Angiomyolipoma Less Than 4 Centimeters: A Systematic Review of Cohort Studies. ⁶²	Zeid M...Giri S	35371642	2022
40	Renal angiomyolipoma presenting as acute abdomen in a previously undiagnosed patient of tuberous sclerosis. ⁶²	Rajarajen AP...Devana SK	35131804	2022
41	Genotype-phenotype correlation of renal lesions in the tuberous sclerosis complex. ⁶²	Muto Y...Shiroki R	35145067	2022
42	Analysis of Clinical Features and Next-Generation Sequencing of 12 Tuberous Sclerosis Families in China. ⁶²	Wang X...Zhang Y	35712104	2022
43	Nephrolithiasis associated with embolization material, Lipiodol®, following embolization of large renal angiomyolipoma. ⁶²	Chen I...Leavitt D	34786344	2022
44	MRI-Based Radiomics and Urine Creatinine for the Differentiation of Renal Angiomyolipoma With Minimal Fat From Renal Cell Carcinoma: A Preliminary Study. ⁶²	Jian L...Lin H	35719934	2022
45	Mechanistic Target of Rapamycin (mTOR) Inhibitors. ⁶²	Wang D...Eisen HJ	35091825	2022
46	Safety and Effectiveness of Medical Therapy and Surgical Intervention for Renal Angiomyolipoma Associated With Tuberous Sclerosis Complex. ⁶²	Wang Z...Zhang X	36471546	2022
47	Case report: A hybrid technique for a safe nephrectomy in a giant kidney angiomyolipoma. ⁶²	Vento V...Gatta E	36303855	2022
48	Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review. ⁶²	Zhang X...Li Y	35928867	2022
49	Spectrum of Presentations and Management Strategies in Renal Angiomyolipoma. ⁶²	Khaddam S...Gulati S	35127338	2022
50	Pelvic Lymph Node Lymphangiomyomatosis Found During Surgery for Gynecological Fallopian Tube Cancer: A Case Report and Literature Review. ⁶²	Xiao S...Yu E	35911399	2022

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Genes for Kidney Angiomyolipoma

Genes related to Kidney Angiomyolipoma (0 elite genes):

(show all 19)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TSC1	TSC Complex Subunit 1	Protein Coding	19.03	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	17932460 11355103 19265534
2	TSC2	TSC Complex Subunit 2	Protein Coding	18.95	DISEASES inferred ¹⁴ Novoseek inferred ⁵³	12192641 11355103 19005330 (more) 19265534
3	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	7.82	DISEASES inferred ¹⁴
4	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	7.16	DISEASES inferred ¹⁴
5	VEGFD	Vascular Endothelial Growth Factor D	Protein Coding	6.92	DISEASES inferred ¹⁴
6	MLANA	Melan-A	Protein Coding	6.69	DISEASES inferred ¹⁴
7	TBC1D7	TBC1 Domain Family Member 7	Protein Coding	6.6	DISEASES inferred ¹⁴
8	FLCN	Folliculin	Protein Coding	6.28	DISEASES inferred ¹⁴
9	RPS6KB1	Ribosomal Protein S6 Kinase B1	Protein Coding	6.15	DISEASES inferred ¹⁴
10	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	6.12	DISEASES inferred ¹⁴
11	EIF4EBP1	Eukaryotic Translation Initiation Factor 4E Binding Protein 1	Protein Coding	5.95	DISEASES inferred ¹⁴
12	TFE3	Transcription Factor Binding To IGHM Enhancer 3	Protein Coding	5.7	DISEASES inferred ¹⁴
13	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	5.67	DISEASES inferred ¹⁴
14	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	5.59	DISEASES inferred ¹⁴
15	MLST8	MTOR Associated Protein, LST8 Homolog	Protein Coding	5.58	DISEASES inferred ¹⁴
16	RPS6	Ribosomal Protein S6	Protein Coding	5.44	DISEASES inferred ¹⁴
17	FNIP1	Folliculin Interacting Protein 1	Protein Coding	5.44	DISEASES inferred ¹⁴
18	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	5.38	DISEASES inferred ¹⁴
19	MITF	Melanocyte Inducing Transcription Factor	Protein Coding	5.34	DISEASES inferred ¹⁴

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Variations for Kidney Angiomyolipoma

ClinVar genetic disease variations for Kidney Angiomyolipoma:

⁵

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TSC1	NM_000368.5(TSC1):c.359T>C (p.Leu120Pro)	SNV	Uncertain Significance	523362	rs1554820262	GRCh37: 9:135800978-135800978 GRCh38: 9:132925591-132925591

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Expression for Kidney Angiomyolipoma

Search GEO for disease gene expression data for Kidney Angiomyolipoma.

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Pathways for Kidney Angiomyolipoma

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

(show top 50) (show all 80)

#	Super pathways	Score	Top Affiliating Genes
1	Signal Transduction ⁶⁶	13.86	AKT1 EIF4EBP1 FKBP1A MLST8 MTOR RHEB
2	Peptide chain elongation ⁶⁶ Show member pathways Amino acids regulate mTORC1 ⁶⁶ Cap-dependent Translation Initiation ⁶⁶ Cellular response to starvation ⁶⁶ CFTR translational fidelity (class I mutations) ²² Cytoplasmic ribosomal proteins ⁷⁴ Defective PAPSS2 causes SEMD-PA ⁶⁶ Eukaryotic Translation Elongation ⁶⁶ Eukaryotic Translation Initiation ⁶⁶ Eukaryotic Translation Termination ⁶⁶ Formation of a pool of free 40S subunits ⁶⁶ GTP hydrolysis and joining of the 60S ribosomal subunit ⁶⁶ L13a-mediated translational silencing of Ceruloplasmin expression ⁶⁶ Metabolism of ingested H2SeO4 and H2SeO3 into H2Se ⁶⁶ Metabolism of ingested MeSeO2H into MeSeH ⁶⁶ Metabolism of ingested SeMet, Sec, MeSec into H2Se ⁶⁶ Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) ⁶⁶ Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) ⁶⁶ Nonsense-Mediated Decay (NMD) ⁶⁶ Response of EIF2AK4 (GCN2) to amino acid deficiency ⁶⁶ Selenoamino acid metabolism ⁶⁶ Selenocysteine synthesis ⁶⁶ SRP-dependent cotranslational protein targeting to membrane ⁶⁶ sulfate activation for sulfonation ⁶¹ Translation ⁶⁶ Viral mRNA Translation ⁶⁶	13.76	RPTOR RPS6KB1 RPS6 RHEB MTOR MLST8
3	Cellular responses to stimuli ⁶⁶ Show member pathways Cellular responses to stress ⁶⁶	13.53	AKT1 FLCN FNIP1 MLST8 MTOR RHEB
4	Prolactin Signaling ⁶⁴ Show member pathways Development Prolactin receptor signaling ²² EGFR Inhibitor Pathway, Pharmacodynamics ⁶⁰ EGFR tyrosine kinase inhibitor resistance ⁷⁴ ErbB Family Pathway ⁶⁴ ErbB signaling pathway ⁷⁴ ErbB2-ErbB3 Heterodimers ⁶⁴ ErbB4 Pathway ⁶⁴ Estrogen-stimulated signaling through PRKCZ ⁶⁶ Glioblastoma Multiforme ⁶⁴ Glioblastoma signaling pathways ⁷⁴ Growth Hormone Signaling ⁶⁴ HMGB1 Pathway ⁶⁴ IL-2 Pathway ⁶⁴ LPS Stimulated MAPK Signaling ⁶⁴ PACAP Signaling ⁶⁴ PI3K Signaling in B-Lymphocyte ⁶⁴ TCA cycle nutrient use and invasiveness of ovarian cancer ⁷⁴ Thrombopoietin Pathway ⁶⁴ TREM1 Pathway ⁶⁴ UVA-Induced MAPK Signaling ⁶⁴ UVB-Induced MAPK Signaling ⁶⁴ UVC-Induced MAPK Signaling ⁶⁴	13.49	TSC2 TSC1 RPS6KB1 RPS6 MTOR EIF4EBP1
5	Akt Signaling ⁶⁴ Show member pathways p38 Signaling ⁶⁴ Tec Kinases Signaling ⁶⁴	13.44	AKT1 EIF4EBP1 MTOR RPS6KB1 TSC1 TSC2
6	RAF/MAP kinase cascade ⁶⁶ Show member pathways Diseases of signal transduction by growth factor receptors and second messengers ⁶⁶ MAPK family signaling cascades ⁶⁶ MAPK1/MAPK3 signaling ⁶⁶	13.41	TSC2 RPS6 RICTOR MTOR MLST8 FKBP1A
7	p70S6K Signaling ⁶⁴ Show member pathways mTOR Pathway ⁶⁴ Renin-Angiotensin Pathway ⁶⁴	13.17	AKT1 EIF4EBP1 FKBP1A MLST8 MTOR RHEB
8	PIP3 activates AKT signaling ⁶⁶ Show member pathways Intracellular signaling by second messengers ⁶⁶ PTEN Regulation ⁶⁶ Regulation of PTEN gene transcription ⁶⁶ Regulation of PTEN localization ⁶⁶	13.15	TSC2 RPTOR RICTOR RHEB MTOR MLST8
9	PI3K-Akt signaling pathway ⁷⁴ Show member pathways Focal adhesion: PI3K-Akt-mTOR-signaling pathway ⁷⁴	13.11	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
10	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	13.08	TSC2 TSC1 RPTOR RICTOR RHEB MTOR
11	Beta-Adrenergic Signaling ⁶⁴ Show member pathways CDK5 Pathway ⁶⁴ Erythropoietin Pathway ⁶⁴ Insulin Pathway ⁷⁰ Insulin Receptor Pathway ⁶⁴	12.91	RPS6KB1 RPS6 MTOR EIF4EBP1 AKT1
12	Translation Insulin regulation of translation ²² Show member pathways Butyrate-induced histone acetylation ⁷⁴ Cell adhesion PLAU signaling ²² Development CNTF receptor signaling ²² Development Growth hormone signaling via PI3K/AKT and MAPK cascades ²² Overview of perturbations to host-cell autophagy, induced by distinct proteins of SARS-CoV-2 ⁷⁴ Regulation of lipid metabolism Insulin signaling-generic cascades ²² Transcription Receptor-mediated HIF regulation ²² Translation Regulation of EIF2 activity ²² Translation Regulation of EIF4F activity ²² Translation inhibitors in chronically activated PDGFRA cells ⁷⁴	12.91	AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
13	Signaling by Receptor Tyrosine Kinases ⁶⁶	12.86	VEGFD RICTOR MTOR MLST8 AKT1
14	Malignant pleural mesothelioma ⁷⁴	12.85	VEGFD TSC2 TSC1 RPTOR RPS6KB1 RPS6
15	Selective autophagy ⁶⁶ Show member pathways Aggrephagy ⁶⁶ Autophagy ⁶⁶ Lipophagy ⁶⁶ Macroautophagy ⁶⁶ Pexophagy ⁶⁶	12.81	TSC2 TSC1 RPTOR RHEB MTOR MLST8
16	Endometrial cancer ⁷⁴ Show member pathways Chromosomal and microsatellite instability in colorectal cancer ⁷⁴ Melanoma ⁷⁴ Non-small cell lung cancer ⁷⁴ Pancreatic adenocarcinoma pathway ⁷⁴ Signal transduction PTEN pathway ²²	12.8	TSC2 RPS6KB1 RHEB MTOR MITF AKT1
17	PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling ⁶⁶ Show member pathways Constitutive Signaling by Aberrant PI3K in Cancer ⁶⁶ Negative regulation of the PI3K/AKT network ⁶⁶ PI3K/AKT Signaling in Cancer ⁶⁶	12.73	TSC2 RICTOR MTOR MLST8 AKT1
18	CNTF Signaling ⁶⁴ Show member pathways Activation of the AP-1 family of transcription factors ⁶⁶ FLT3 Signaling ⁶⁴ G-protein signaling Ras family GTPases in kinase cascades (scheme) ²² Host-pathogen interaction of human coronaviruses - MAPK signaling ⁷⁴ IL-3 Pathway ⁶⁴ Immune response Oncostatin M signaling via MAPK in human cells ²² Inhibition of exosome biogenesis and secretion by Manumycin A in CRPC cells ⁷⁴ MAPK cascade ⁷⁴ Nur77-Induced AICD in Macrophage ⁶⁴ OSM Pathway ⁶⁴	12.71	RPS6KB1 MTOR MITF EIF4EBP1 AKT1
19	Angiopoietin-like protein 8 regulatory pathway ⁷⁴ Show member pathways Insulin signaling ⁷⁴ Liver X receptor pathway ⁷⁴	12.7	TSC2 TSC1 RPTOR RPS6KB1 RICTOR RHEB
20	Rab regulation of trafficking ⁶⁶ Show member pathways RAB GEFs exchange GTP for GDP on RABs ⁶⁶ TBC/RABGAPs ⁶⁶	12.47	TSC2 TSC1 TBC1D7 AKT1
21	Development IGF-1 receptor signaling ²² Show member pathways Immune response IL-4 signaling pathway ²² Signal transduction AKT signaling ²²	12.47	TSC2 TSC1 RPS6KB1 RPS6 RHEB MTOR
22	CD28 co-stimulation ⁶⁶ Show member pathways Activation of AKT2 ⁶⁶ CD28 dependent PI3K/Akt signaling ⁶⁶ CD28 dependent Vav1 pathway ⁶⁶ Costimulation by the CD28 family ⁶⁶ CTLA4 Signaling ⁶⁴ VEGFR2 mediated vascular permeability ⁶⁶	12.42	RICTOR MTOR MLST8 AKT1
23	Signaling by VEGF ⁶⁶ Show member pathways VEGFA-VEGFR2 Pathway ⁶⁶	12.41	AKT1 MLST8 MTOR RICTOR VEGFD
24	AMPK Enzyme Complex Pathway ⁶⁴ Show member pathways Chromatin Remodeling ⁶⁴	12.38	TSC2 TSC1 RPTOR RPS6KB1 MTOR EIF4EBP1
25	PDGFR-beta signaling pathway ⁶¹ Show member pathways ErbB1 downstream signaling ⁶¹	12.37	RPS6 RICTOR MTOR MLST8 AKT1
26	Development Endothelin-1/EDNRA transactivation of EGFR ²² Show member pathways Cytoskeleton remodeling FAK signaling ²² Development Endothelin-1/EDNRA signaling ²²	12.36	AKT1 MTOR RHEB RPS6KB1 TSC2
27	T-cell activation SARS-CoV-2 ⁷⁴ Show member pathways T-cell antigen receptor (TCR) pathway during Staphylococcus aureus infection ⁷⁴	12.35	TSC2 TSC1 RPTOR RICTOR RHEB MTOR
28	mTOR Signaling ⁶⁵	12.29	EIF4EBP1 AKT1 MLST8 MTOR RHEB RICTOR
29	MAPK Signaling: Mitogens ⁶⁵ Show member pathways Akt Signaling Pathway ⁶⁵	12.29	TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
30	AMP-activated protein kinase signaling ⁷⁴ Show member pathways AMPK Signaling Pathway ⁶⁷ Leptin and adiponectin ⁷⁴	12.27	AKT1 EIF4EBP1 MTOR RHEB RPS6 RPS6KB1
31	Integrated breast cancer pathway ⁷⁴	12.26	TSC2 TSC1 RHEB MTOR AKT1
32	Fragile X syndrome ⁷⁴ Show member pathways Pilocytic astrocytoma ⁷⁴	12.25	AKT1 MLST8 MTOR RHEB RPS6KB1 RPTOR
33	Transcription Androgen Receptor nuclear signaling ²² Show member pathways Translation Non-genomic (rapid) action of Androgen Receptor ²²	12.24	TSC2 RPS6KB1 MTOR EIF4EBP1 AKT1
34	Autophagy ⁷⁴ Show member pathways Autophagy during CoV infection ⁷⁴ Host-pathogen interaction of human coronaviruses - autophagy ⁷⁴ Nanoparticle triggered autophagic cell death ⁷⁴ Neurodegeneration with brain iron accumulation (NBIA) subtypes pathway ⁷⁴	12.22	TSC2 TSC1 RPTOR RHEB MTOR MLST8
35	Thermogenesis ⁷⁴ Show member pathways mitochondrial L-carnitine shuttle ⁶¹	12.19	TSC2 TSC1 RPTOR RPS6KB1 RPS6 RHEB
36	MTOR signalling ⁶⁶ Show member pathways Energy dependent regulation of mTOR by LKB1-AMPK ⁶⁶ Inhibition of TSC complex formation by PKB ⁶⁶ mTORC1-mediated signalling ⁶⁶ Target of rapamycin signaling ⁷⁴	12.16	TSC2 TSC1 RPTOR RPS6KB1 RPS6 RICTOR
37	Translation Translation regulation by Alpha-1 adrenergic receptors ²² Show member pathways Development Activation of ERK by Alpha-1 adrenergic receptors ²²	12.15	TSC2 RPS6KB1 RHEB MTOR EIF4EBP1
38	GDNF signaling ⁷⁴	12.14	RPTOR RPS6KB1 MTOR AKT1
39	IL2 signaling events mediated by STAT5 ⁶¹ Show member pathways IL2 signaling events mediated by PI3K ⁶¹ IL2-mediated signaling events ⁶¹ Interleukin-2 signaling ⁶⁶	12.1	RPS6KB1 RPS6 MTOR AKT1
40	TP53 Regulates Metabolic Genes ⁶⁶	12.07	TSC2 TSC1 RPTOR RHEB MTOR MLST8
41	Gastrin signaling pathway ⁷⁴	12.06	RPS6KB1 RPS6 EIF4EBP1 AKT1
42	Clear cell renal cell carcinoma pathways ⁷⁴	12.05	TSC2 TSC1 RPTOR RHEB MTOR MLST8
43	PI3K / Akt Signaling ³	12.03	TSC2 TSC1 TBC1D7 RHEB AKT1
44	Thyroid hormones production and peripheral downstream signaling effects ⁷⁴	12.03	MLST8 MTOR RHEB RPS6 RPS6KB1 RPTOR
45	Development EPO-induced Jak-STAT pathway ²² Show member pathways EPO receptor signaling ⁷⁴ Signaling events mediated by Stem cell factor receptor (c-Kit) ⁶¹	12	RPS6KB1 MITF AKT1
46	p53 transcriptional gene network ⁷⁴	11.98	MLST8 MTOR RPTOR TSC2
47	Interferon Pathway ⁶⁴	11.97	RPS6KB1 RPS6 MTOR EIF4EBP1
48	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 ⁶¹	11.95	AKT1 MLST8 MTOR RICTOR TSC2
49	Translational Control ³ Show member pathways exRNA mechanism of action and biogenesis ⁷⁴	11.95	EIF4EBP1 FLCN MLST8 MTOR RICTOR RPS6
50	Head and neck squamous cell carcinoma ⁷⁴	11.93	TSC2 TSC1 RPTOR RPS6 RICTOR RHEB

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	10.46	AKT1 EIF4EBP1 FKBP1A FLCN FNIP1 MLST8
2	lysosomal membrane	GO:0005765	10.02	RPTOR RHEB MTOR FNIP1 FLCN
3	TORC2 complex	GO:0031932	9.63	RICTOR MTOR MLST8
4	TORC1 complex	GO:0031931	9.43	RPTOR MTOR MLST8
5	TSC1-TSC2 complex	GO:0033596	9.1	TSC2 TSC1 TBC1D7

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

(show all 31)

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of apoptotic process	GO:0043066	10.4	RPS6KB1 RPS6 RICTOR MTOR MLST8 MITF
2	phosphorylation	GO:0016310	10.33	RPTOR RPS6KB1 RICTOR MTOR MLST8 AKT1
3	peptidyl-serine phosphorylation	GO:0018105	10.25	RPS6KB1 RICTOR MTOR AKT1
4	positive regulation of protein phosphorylation	GO:0001934	10.24	VEGFD MTOR FNIP1 FLCN AKT1
5	cellular response to starvation	GO:0009267	10.17	FLCN FNIP1 MTOR RPTOR
6	response to heat	GO:0009408	10.11	RPS6KB1 MTOR AKT1
7	positive regulation of actin filament polymerization	GO:0030838	10.11	MLST8 MTOR RICTOR
8	negative regulation of autophagy	GO:0010507	10.11	RPTOR MTOR MLST8 AKT1
9	negative regulation of cold-induced thermogenesis	GO:0120163	10.1	TFE3 RHEB FLCN
10	positive regulation of cell growth	GO:0030307	10.1	RPTOR RICTOR MTOR MLST8 AKT1
11	germ cell development	GO:0007281	10.09	RPS6KB1 MTOR AKT1
12	regulation of translation	GO:0006417	10.09	TSC1 RPS6KB1 EIF4EBP1 AKT1
13	protein kinase B signaling	GO:0043491	10.08	AKT1 FLCN RPS6KB1 TSC2
14	positive regulation of glycolytic process	GO:0045821	10.05	RPTOR MTOR MLST8
15	response to nutrient levels	GO:0031667	10.04	TSC1 RPS6KB1 MTOR
16	negative regulation of macroautophagy	GO:0016242	10.02	TSC1 MTOR AKT1
17	regulation of protein phosphorylation	GO:0001932	10.01	FLCN FNIP1 MTOR RICTOR
18	regulation of osteoclast differentiation	GO:0045670	10	TFE3 MTOR MITF
19	cellular response to osmotic stress	GO:0071470	9.97	RPTOR MTOR MLST8
20	cellular response to nutrient levels	GO:0031669	9.97	MLST8 MTOR RICTOR RPTOR
21	negative regulation of cell size	GO:0045792	9.95	TSC1 MTOR
22	anoikis	GO:0043276	9.93	TSC2 MTOR AKT1
23	activation-induced cell death of T cells	GO:0006924	9.92	RPS6 AKT1
24	positive regulation of lipid biosynthetic process	GO:0046889	9.92	RPTOR MTOR MLST8 AKT1
25	regulation of type B pancreatic cell development	GO:2000074	9.91	AKT1 RHEB
26	TORC1 signaling	GO:0038202	9.91	RPTOR MTOR MLST8
27	regulation of pro-B cell differentiation	GO:2000973	9.9	FLCN FNIP1
28	negative regulation of TOR signaling	GO:0032007	9.85	TSC2 TSC1 TBC1D7 FNIP1 FLCN
29	positive regulation of pentose-phosphate shunt	GO:1905857	9.73	RPTOR MTOR MLST8
30	positive regulation of TOR signaling	GO:0032008	9.73	FLCN FNIP1 MLST8 RHEB RICTOR RPTOR
31	TOR signaling	GO:0031929	9.6	RPTOR RPS6KB1 RPS6 RICTOR MTOR MLST8

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

#	Name	GO ID	Score	Top Affiliating Genes
1	RNA polymerase III type 3 promoter sequence-specific DNA binding	GO:0001006	9.62	RPTOR MTOR
2	ATPase inhibitor activity	GO:0042030	9.56	TSC1 FNIP1
3	protein serine/threonine kinase inhibitor activity	GO:0030291	9.54	RPTOR AKT1
4	TFIIIC-class transcription factor complex binding	GO:0001156	9.46	RPTOR MTOR
5	RNA polymerase III type 2 promoter sequence-specific DNA binding	GO:0001003	9.26	RPTOR MTOR
6	RNA polymerase III type 1 promoter sequence-specific DNA binding	GO:0001002	8.92	RPTOR MTOR

Sources

Sources for Kidney Angiomyolipoma

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

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 NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

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 Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: KDN015 MIFTS: 45	Kidney Angiomyolipoma Categories: Cancer diseases, Nephrological diseases	Data Licensing For inquiries, contact: [email protected]
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