MCID: ANG018
MIFTS: 46

Angiomyolipoma

Categories: Cancer diseases, Nephrological diseases

Aliases & Classifications for Angiomyolipoma

MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma 12 54 44 15 71
Angiomyolipoma of Kidney 71

Classifications:



External Ids:

Disease Ontology 12 DOID:3314
MeSH 44 D018207
NCIt 50 C3734
SNOMED-CT 67 19929002
UMLS 71 C0206633 C0241961

Summaries for Angiomyolipoma

Disease Ontology : 12 A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells.

MalaCards based summary : Angiomyolipoma, also known as angiomyolipoma of kidney, is related to hepatic angiomyolipoma and kidney angiomyolipoma. An important gene associated with Angiomyolipoma is TSC2 (TSC Complex Subunit 2), and among its related pathways/superpathways are Glioma and Pathways in cancer. The drugs Sirolimus and Clotrimazole have been mentioned in the context of this disorder. Affiliated tissues include kidney, lymph node and smooth muscle, and related phenotypes are behavior/neurological and cardiovascular system

Wikipedia : 74 Angiomyolipomas are the most common benign tumour of the kidney. Although regarded as benign,... more...

Related Diseases for Angiomyolipoma

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

(show top 50) (show all 609)
# Related Disease Score Top Affiliating Genes
1 hepatic angiomyolipoma 32.1 TSC2 TFE3 MTOR MLANA
2 kidney angiomyolipoma 32.1 VEGFD TSC2 TSC1 TFE3 MTOR MLANA
3 tuberous sclerosis 31.4 VIM TSC2 TSC1 MTOR MLANA CCL26
4 tuberous sclerosis 1 31.4 TSC2 TSC1 MTOR CCL26
5 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.2 TSC2 TSC1 CCL26
6 rare tumor 31.2 KIT DES ACTC1
7 lipomatosis, multiple 31.0 MLANA KIT DES
8 pneumothorax 30.6 VIM TSC1 PGR
9 subependymal giant cell astrocytoma 30.5 VIM TSC2 TSC1 MTOR
10 mesenchymal cell neoplasm 30.5 TFE3 MME MLANA KIT
11 angiolipoma 30.3 VIM TSC2 MLANA DES ACTC1
12 well-differentiated liposarcoma 30.3 MLANA KRT7 KIT
13 horseshoe kidney 30.2 TSC2 KRT7 ACTC1
14 lymphangioleiomyomatosis 30.2 VEGFD TYR TSC2 TSC1 PGR MTOR
15 lymphangiectasis 30.2 VIM ACTC1
16 hemangioma 30.2 TSC2 MTOR KRT7 KIT ACTC1
17 lymphangiomatosis 30.2 VIM TSC2 PGR DES
18 oncocytoma 30.1 VIM S100A1 MME KRT7 KIT
19 sarcoma 30.1 VIM TFE3 MTOR KIT ACTC1
20 autosomal dominant polycystic kidney disease 30.0 VIM TSC2 TSC1 MTOR
21 spindle cell sarcoma 29.9 VIM KRT7 KIT DES ACTC1
22 retroperitoneal sarcoma 29.9 MLANA KIT
23 renal oncocytoma 29.9 VIM S100A1 MME KRT7 KIT
24 epithelioid cell melanoma 29.9 TYR MLANA MITF
25 gastrointestinal stromal tumor 29.9 VIM S100A1 KIT DES ACTC1
26 cystic kidney disease 29.9 TSC2 TSC1 MTOR CCL26
27 dowling-degos disease 1 29.9 TYR MITF KIT
28 alveolar soft part sarcoma 29.8 VIM TFE3 MTOR DES ACTC1
29 hemangiopericytoma, malignant 29.8 VIM KIT DES ACTC1
30 benign giant cell tumor 29.8 VIM MITF DES ACTC1
31 adenomyosis 29.8 PGR MME ESR1
32 cavernous hemangioma 29.8 VIM S100A1 KRT7 KIT DES
33 sarcomatoid renal cell carcinoma 29.7 S100A1 PAX8 KIT
34 dedifferentiated liposarcoma 29.7 S100A1 KIT DES ACTC1
35 juvenile nasopharyngeal angiofibroma 29.7 PGR KIT ESR1 ACTC1
36 teratoma 29.7 KRT7 KIT ESR1 ACTC1
37 angiosarcoma 29.7 VIM MLANA KRT7 KIT
38 leiomyosarcoma 29.6 VIM S100A1 PGR MLANA KIT ESR1
39 glomus tumor 29.6 VIM S100A1 KIT DES ACTC1
40 inflammatory myofibroblastic tumor 29.6 VIM S100A1 KIT DES ACTC1
41 intestinal obstruction 29.5 MTOR KRT7 KIT
42 leiomyoma 29.5 VIM TSC2 S100A1 PGR MME KIT
43 chromophobe renal cell carcinoma 29.5 VIM S100A1 MME KRT7 KIT
44 sarcoma, synovial 29.5 VIM KRT7 KIT DES
45 neurilemmoma 29.5 VIM TYR S100A1 MITF KIT DES
46 myoma 29.4 PGR MME KIT ESR1 ACTC1
47 clear cell renal cell carcinoma 29.4 VIM TFE3 PAX8 MTOR MME KRT7
48 skin melanoma 29.4 TYR MTOR MLANA MITF KIT
49 cystadenoma 29.4 PGR MME KRT7 KIT
50 fibroma 29.4 VIM TSC1 S100A1 KRT7 DES ACTC1

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to Angiomyolipoma

Symptoms & Phenotypes for Angiomyolipoma

MGI Mouse Phenotypes related to Angiomyolipoma:

46 (show all 14)
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.41 DES ESR1 KIT MITF MME MTOR
2 cardiovascular system MP:0005385 10.4 ACTC1 DES ESR1 KIT MME MTOR
3 cellular MP:0005384 10.39 ACTC1 DES ESR1 KIT KRT7 MITF
4 homeostasis/metabolism MP:0005376 10.38 ACTC1 DES ESR1 KIT KRT7 MITF
5 mortality/aging MP:0010768 10.31 ACTC1 DES ESR1 KIT MITF MTOR
6 embryo MP:0005380 10.27 ACTC1 ESR1 KIT MITF MTOR PAX8
7 integument MP:0010771 10.2 ESR1 KIT MITF MLANA MME PGR
8 normal MP:0002873 10.1 ACTC1 ESR1 KIT MITF MTOR PAX8
9 muscle MP:0005369 10.06 ACTC1 DES ESR1 KIT MTOR PGR
10 no phenotypic analysis MP:0003012 9.92 ESR1 KIT MITF MLANA MTOR PAX8
11 neoplasm MP:0002006 9.91 ESR1 KIT PGR TSC1 TSC2 TYR
12 pigmentation MP:0001186 9.7 KIT MITF MLANA TFE3 TFEB TSC1
13 renal/urinary system MP:0005367 9.61 ESR1 KIT KRT7 MITF MTOR PAX8
14 skeleton MP:0005390 9.32 ESR1 KIT MITF MTOR PAX8 PGR

Drugs & Therapeutics for Angiomyolipoma

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 4 53123-88-9 5284616 6436030
2
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
3
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
4 Antifungal Agents Phase 4
5 Antibiotics, Antitubercular Phase 4
6 Anti-Infective Agents Phase 4
7 Anti-Bacterial Agents Phase 4
8
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
9
Propranolol Approved, Investigational Phase 2 525-66-6 4946
10
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
11 Anti-Inflammatory Agents Phase 2
12 Analgesics, Non-Narcotic Phase 2
13 Cyclooxygenase Inhibitors Phase 2
14 Anti-Inflammatory Agents, Non-Steroidal Phase 2
15 Antirheumatic Agents Phase 2
16 Analgesics Phase 2
17 Cyclooxygenase 2 Inhibitors Phase 2
18 Cola Phase 2
19 Adrenergic Antagonists Phase 2
20 Angiogenesis Inhibitors Phase 2
21 Adrenergic beta-Antagonists Phase 2
22 Antihypertensive Agents Phase 2
23 Neurotransmitter Agents Phase 2
24 Adrenergic Agents Phase 2
25 Vasodilator Agents Phase 2
26 Anti-Arrhythmia Agents Phase 2
27 Immunosuppressive Agents Phase 2
28 Immunologic Factors Phase 2

Interventional clinical trials:

(show all 14)
# Name Status NCT ID Phase Drugs
1 CLINICAL TRIAL TO DETERMINE THE EFFICACY AND SAFETY OF RAPAMYCIN IN ANGIOMYOLIPOMAS IN PATIENTS WITH TUBEROUS SCLEROSIS Completed NCT01217125 Phase 4 Sirolimus
2 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
3 A Randomized, Double-blind, Placebo-controlled Study of RAD0001 in the Treatment of Angiomyolipoma in Patients With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3 Everolimus (RAD001);Everolimus Placebo
4 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
5 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Completed NCT02484664 Phase 2 Celecoxib
6 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
7 Rapamycin Therapy of Angiomyolipomas in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457808 Phase 2 Rapamycin, sirolimus
8 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
9 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00792766 Phase 1, Phase 2 everolimus (RAD001)
10 A Phase II Study of Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Therapy Terminated NCT02539459 Phase 2 Everolimus
11 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
12 EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications Completed NCT03477149
13 Clinical Profile Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Followed at Hospital Das Clínicas, University of Sao Paulo Medical School Recruiting NCT02325505
14 Biomarkers for Tuberous Sclerosis Complex: An International Multicenter Observational Longitudinal Protocol Recruiting NCT02654340

Search NIH Clinical Center for Angiomyolipoma

Cochrane evidence based reviews: angiomyolipoma

Genetic Tests for Angiomyolipoma

Anatomical Context for Angiomyolipoma

MalaCards organs/tissues related to Angiomyolipoma:

40
Kidney, Lymph Node, Smooth Muscle, Colon, Adrenal Gland, Uterus, Pancreas

Publications for Angiomyolipoma

Articles related to Angiomyolipoma:

(show top 50) (show all 3326)
# Title Authors PMID Year
1
Signaling events downstream of mammalian target of rapamycin complex 2 are attenuated in cells and tumors deficient for the tuberous sclerosis complex tumor suppressors. 61 54
19602587 2009
2
PEComas: a review with emphasis on cutaneous lesions. 61 54
20043511 2009
3
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. 54 61
19443708 2009
4
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 54 61
19175396 2009
5
Insight into mechanism of oxidative DNA damage in angiomyolipomas from TSC patients. 54 61
19265534 2009
6
The pathogenesis and imaging of the tuberous sclerosis complex. 54 61
18414839 2008
7
Angiomyolipoma of the anterior mediastinum. 61 54
18620999 2008
8
The mTOR inhibitor rapamycin significantly improves facial angiofibroma lesions in a patient with tuberous sclerosis. 61 54
18547304 2008
9
[Epithelioid renal angiomyolipoma]. 61 54
18592777 2008
10
Constant allelic alteration on chromosome 16p (TSC2 gene) in perivascular epithelioid cell tumour (PEComa): genetic evidence for the relationship of PEComa with angiomyolipoma. 61 54
18085521 2008
11
PEComas: the past, the present and the future. 54 61
18080139 2008
12
Coincidence of hepatocelluar carcinoma and hepatic angiomyolipomas in tuberous sclerosis complex: a case report. 61 54
18205279 2008
13
Genetic polymorphisms in OGG1 and their association with angiomyolipoma, a benign kidney tumor in patients with tuberous sclerosis. 61 54
17932460 2008
14
Anti-EGFR antibody efficiently and specifically inhibits human TSC2-/- smooth muscle cell proliferation. Possible treatment options for TSC and LAM. 61 54
18958173 2008
15
Activation of the mTOR pathway in sporadic angiomyolipomas and other perivascular epithelioid cell neoplasms. 61 54
17521703 2007
16
Survivin expression in tuberous sclerosis complex cells. 54 61
17592551 2007
17
[Epithelioid angiomyolipoma of kidney: clinicopathologic study of two cases and review of literature]. 61 54
17374233 2007
18
Sporadic subcutaneous angiomyolipoma with expression of estrogen and progesterone receptors. 61 54
17124601 2007
19
Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas. 54 61
17227112 2007
20
Rapid growth of a kidney angiomyolipoma after initiation of oral contraceptive therapy. 61 54
17018483 2006
21
Comparative genomic hybridization study of perivascular epithelioid cell tumor: molecular genetic evidence of perivascular epithelioid cell tumor as a distinctive neoplasm. 54 61
16647959 2006
22
Isolation and growth of smooth muscle-like cells derived from tuberous sclerosis complex-2 human renal angiomyolipoma: epidermal growth factor is the required growth factor. 61 54
16192644 2005
23
Emerging clinical picture of lymphangioleiomyomatosis. 54 61
16055626 2005
24
KIT expression in normal and neoplastic renal tissues: immunohistochemical and molecular genetic analysis. 54 61
15998375 2005
25
C-kit expression in renal oncocytomas and chromophobe renal cell carcinomas. 61 54
15791570 2005
26
Estrogen enhances whereas tamoxifen retards development of Tsc mouse liver hemangioma: a tumor related to renal angiomyolipoma and pulmonary lymphangioleiomyomatosis. 54 61
15781664 2005
27
An epidemiological study of renal pathology in tuberous sclerosis complex. 54 61
15476522 2004
28
Estrogen receptor is significantly associated with the epithelioid variants of renal angiomyolipoma: a clinicopathological and immunohistochemical study of 67 cases. 61 54
15189505 2004
29
Perivascular epithelioid cell tumor of the uterus: immunohistochemical, ultrastructural and molecular study. 61 54
14629307 2003
30
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. 61 54
12411287 2003
31
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. 61 54
12711473 2003
32
Renal angiomyolipomas from patients with sporadic lymphangiomyomatosis contain both neoplastic and non-neoplastic vascular structures. 54 61
12547707 2003
33
Functional tyrosine kinase inhibitor profiling: a generally applicable method points to a novel role of platelet-derived growth factor receptor-beta in tuberous sclerosis. 54 61
12213705 2002
34
The TSC-2 product tuberin is expressed in lymphangioleiomyomatosis and angiomyolipoma. 61 54
12010366 2002
35
Expression of KIT (CD117) in angiomyolipoma. 54 61
11914628 2002
36
Renal disease in adults with TSC2/PKD1 contiguous gene syndrome. 61 54
11812941 2002
37
Epithelioid angiomyolipoma of the ovary: a case report and literature review. 61 54
11781527 2002
38
Melanoma markers in angiomyolipoma of the liver and kidney: a comparative study. 54 61
11800647 2002
39
An unusual renal angiomyolipoma with morphological lymphangioleiomyomatosis features and coexpression of oestrogen and progesterone receptors. 54 61
11942568 2002
40
Leiomyomatosis-like lymphangioleiomyomatosis of the colon in a female with tuberous sclerosis. 61 54
11706076 2001
41
[Concomitant occurrence of angiomyolipoma, focal nodular hyperplasia, bile duct adenoma, and cavernous hemangioma in the liver]. 61 54
11766641 2001
42
Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. 61 54
11704609 2001
43
The generation and characterization of a cell line derived from a sporadic renal angiomyolipoma: use of telomerase to obtain stable populations of cells from benign neoplasms. 61 54
11485907 2001
44
Renal angiomyolipoma: further immunophenotypic characterization of an expanding morphologic spectrum. 61 54
11371226 2001
45
Immunohistochemical study of microphthalmia transcription factor and tyrosinase in angiomyolipoma of the kidney, renal cell carcinoma, and renal and retroperitoneal sarcomas: comparative evaluation with traditional diagnostic markers. 54 61
11145253 2001
46
Pulmonary lymphangioleiomyomatosis in a man. 54 61
10934115 2000
47
[Clinical and molecular epidemiology of lymphangioleiomyomatosis and pulmonary pathology in tuberous sclerosis]. 54 61
10939121 2000
48
Mutations in the tuberous sclerosis complex gene TSC2 are a cause of sporadic pulmonary lymphangioleiomyomatosis. 54 61
10823953 2000
49
Paratesticular liposarcoma with smooth muscle differentiation mimicking angiomyolipoma. 54 61
10692023 2000
50
Trabecular angiomyolipoma mimicking hepatic cell carcinoma. 54 61
11033464 2000

Variations for Angiomyolipoma

Expression for Angiomyolipoma

Search GEO for disease gene expression data for Angiomyolipoma.

Pathways for Angiomyolipoma

GO Terms for Angiomyolipoma

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

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.1 VIM TYR TSC2 TSC1 TFEB TFE3
2 cytosol GO:0005829 9.97 VIM TYR TSC2 TSC1 TFEB TFE3
3 cytoplasm GO:0005737 9.53 VIM TYR TSC2 TSC1 TFEB TFE3
4 TSC1-TSC2 complex GO:0033596 8.96 TSC2 TSC1

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.77 VIM MTOR MITF KIT ACTC1
2 positive regulation of phospholipase C activity GO:0010863 9.46 KIT ESR1
3 anoikis GO:0043276 9.43 TSC2 MTOR
4 positive regulation of endothelial cell proliferation GO:0001938 9.43 VEGFD MTOR CCL26
5 intracellular steroid hormone receptor signaling pathway GO:0030518 9.4 PGR ESR1
6 muscle filament sliding GO:0030049 9.33 VIM DES ACTC1
7 negative regulation of cell size GO:0045792 9.32 TSC1 MTOR
8 pigmentation GO:0043473 9.13 TYR MITF KIT
9 regulation of osteoclast differentiation GO:0045670 8.8 TFE3 MTOR MITF

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.3 VIM VEGFD TYR TSC2 TSC1 TFEB
2 identical protein binding GO:0042802 9.56 VIM VEGFD TYR S100A1 PGR MTOR
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.55 TFE3 PGR PAX8 MITF ESR1
4 ATPase binding GO:0051117 9.43 S100A1 PGR ESR1
5 DNA-binding transcription factor activity GO:0003700 9.1 TFEB TFE3 PGR PAX8 MITF ESR1

Sources for Angiomyolipoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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