MCID: ANG018
MIFTS: 46

Angiomyolipoma

Categories: Cancer diseases

Aliases & Classifications for Angiomyolipoma

MalaCards integrated aliases for Angiomyolipoma:

Name: Angiomyolipoma 12 54 43 15 71
Angiomyolipoma of Kidney 71

Classifications:



External Ids:

Disease Ontology 12 DOID:3314
MeSH 43 D018207
NCIt 49 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 kidney angiomyolipoma and hepatic angiomyolipoma. An important gene associated with Angiomyolipoma is TSC1 (TSC Complex Subunit 1), and among its related pathways/superpathways are Glioma and Phospholipase D signaling pathway. The drugs Doxycycline and Antimalarials have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lung, and related phenotypes are cellular and homeostasis/metabolism

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 610)
# Related Disease Score Top Affiliating Genes
1 kidney angiomyolipoma 34.1 VEGFD TSC2 TSC1 MTOR MLANA
2 hepatic angiomyolipoma 33.8 TSC2 TSC1 TFE3 MTOR MLANA
3 tuberous sclerosis 2 33.3 TSC2 TSC1 MTOR
4 tuberous sclerosis 1 33.0 TSC2 TSC1 MTOR CCL26
5 lymphangioleiomyomatosis 32.0 VEGFD TYR TSC2 TSC1 PGR MTOR
6 tuberous sclerosis 31.7 VIM TSC2 TSC1 MTOR MLANA CCL26
7 congenital heart defects, hamartomas of tongue, and polysyndactyly 31.6 TSC2 TSC1 CCL26
8 rare tumor 31.4 KIT DES ACTC1
9 lipomatosis, multiple 31.2 MLANA KIT DES
10 pneumothorax 31.0 VIM TSC1 PGR
11 subependymal giant cell astrocytoma 31.0 VIM TSC2 TSC1 MTOR
12 mesenchymal cell neoplasm 30.9 MME MLANA KIT
13 neurofibromatosis, type iv, of riccardi 30.7 TSC2 MTOR KIT
14 angiolipoma 30.7 VIM MLANA DES ACTC1
15 lymphangiectasis 30.6 VIM ACTC1
16 lymphangiomatosis 30.6 VIM PGR DES
17 horseshoe kidney 30.5 TSC2 KRT7 ACTC1
18 epithelioid cell melanoma 30.5 TYR MLANA MITF
19 cystic kidney disease 30.4 TSC2 TSC1 MTOR CCL26
20 adrenal cortical carcinoma 30.3 VIM MLANA ACTC1
21 kidney cancer 30.2 VIM VEGFD TSC2 TSC1 MTOR
22 spindle cell sarcoma 30.2 VIM KRT7 DES ACTC1
23 dowling-degos disease 1 30.1 TYR MITF KIT
24 oncocytoma 30.1 VIM S100A1 MME KRT7 KIT
25 hemangioma 30.1 TSC2 PGR MTOR KRT7 KIT ACTC1
26 alveolar soft part sarcoma 30.1 VIM TFE3 MTOR DES ACTC1
27 glomus tumor 30.1 VIM S100A1 DES ACTC1
28 hemangiopericytoma, malignant 30.0 VIM KIT DES ACTC1
29 gastrointestinal stromal tumor 30.0 VIM S100A1 KIT DES ACTC1
30 sarcomatoid renal cell carcinoma 30.0 S100A1 PAX8 KIT
31 inflammatory myofibroblastic tumor 29.9 VIM S100A1 KIT DES ACTC1
32 dendritic cell tumor 29.9 VIM PTPRC ACTC1
33 cavernous hemangioma 29.9 VIM S100A1 KRT7 KIT DES
34 skin melanoma 29.8 TYR MLANA MITF KIT
35 renal oncocytoma 29.8 VIM S100A1 MME KRT7 KIT
36 juvenile nasopharyngeal angiofibroma 29.8 PGR KIT ESR1 ACTC1
37 angiosarcoma 29.8 VIM MLANA KRT7 KIT
38 retroperitoneal fibrosis 29.8 VIM PTPRC
39 microphthalmia 29.8 TYR TFE3 MLANA MITF KIT ACTC1
40 intestinal obstruction 29.7 MTOR KRT7 KIT
41 sarcoma, synovial 29.6 VIM KRT7 KIT DES
42 myoma 29.6 PGR MME KIT ESR1
43 cystic nephroma 29.5 VIM PGR MME KIT DES ACTC1
44 pheochromocytoma 29.5 TYR MME MITF KRT7 KIT
45 fibroma 29.5 VIM TSC1 S100A1 KRT7 DES ACTC1
46 neurilemmoma 29.5 VIM TYR S100A1 MITF KIT DES
47 teratoma 29.5 VIM KRT7 KIT ESR1 ACTC1
48 neurofibroma 29.4 VIM TYR S100A1 MLANA MITF KIT
49 chromophobe renal cell carcinoma 29.4 VIM S100A1 MME KRT7 KIT
50 clear cell renal cell carcinoma 29.4 VIM TFE3 PAX8 MTOR MME KRT7

Graphical network of the top 20 diseases related to Angiomyolipoma:



Diseases related to Angiomyolipoma

Symptoms & Phenotypes for Angiomyolipoma

MGI Mouse Phenotypes related to Angiomyolipoma:

45 (show all 18)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.46 ACTC1 DES ESR1 KIT KRT7 MITF
2 homeostasis/metabolism MP:0005376 10.44 ACTC1 DES ESR1 KIT KRT7 MITF
3 behavior/neurological MP:0005386 10.42 DES ESR1 KIT MITF MME MTOR
4 cardiovascular system MP:0005385 10.41 ACTC1 DES ESR1 KIT MTOR PAX8
5 mortality/aging MP:0010768 10.33 ACTC1 DES ESR1 KIT MITF MTOR
6 growth/size/body region MP:0005378 10.3 ACTC1 ESR1 KIT MITF MTOR PAX8
7 embryo MP:0005380 10.25 ESR1 KIT MITF MTOR PAX8 PGR
8 endocrine/exocrine gland MP:0005379 10.24 ESR1 KIT MITF MTOR PAX8 PGR
9 immune system MP:0005387 10.24 ESR1 KIT MITF MME MTOR PGR
10 integument MP:0010771 10.22 ESR1 KIT MITF MLANA MME PGR
11 nervous system MP:0003631 10.11 ESR1 KIT MITF MME MTOR PAX8
12 muscle MP:0005369 10.09 ACTC1 DES ESR1 KIT MTOR PGR
13 normal MP:0002873 10.07 ACTC1 ESR1 KIT MITF MTOR PAX8
14 neoplasm MP:0002006 10.01 ESR1 KIT PGR PTPRC TSC1 TSC2
15 no phenotypic analysis MP:0003012 9.97 ESR1 KIT MITF MLANA MTOR PAX8
16 renal/urinary system MP:0005367 9.65 ESR1 KIT KRT7 MITF MTOR PAX8
17 pigmentation MP:0001186 9.63 KIT MITF MLANA TFE3 TSC1 TYR
18 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 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
2 Antimalarials Phase 4
3 Antiparasitic Agents Phase 4
4 Antiprotozoal Agents Phase 4
5
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
6
Propranolol Approved, Investigational Phase 2 525-66-6 4946
7
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
8
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
9
Everolimus Approved Phase 2 159351-69-6 6442177 70789204
10
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
11 Estrogens Phase 2
12 Steroid Synthesis Inhibitors Phase 2
13 Hormone Antagonists Phase 2
14 Estrogen Receptor Antagonists Phase 2
15 Estrogen Antagonists Phase 2
16 Aromatase Inhibitors Phase 2
17 Hormones Phase 2
18 Neurotransmitter Agents Phase 2
19 Anti-Arrhythmia Agents Phase 2
20 Antihypertensive Agents Phase 2
21 Angiogenesis Inhibitors Phase 2
22 Adrenergic Antagonists Phase 2
23 Adrenergic beta-Antagonists Phase 2
24 Vasodilator Agents Phase 2
25 Adrenergic Agents Phase 2
26 Anti-Infective Agents Phase 2
27 Anti-Bacterial Agents Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Cyclooxygenase 2 Inhibitors Phase 2
30 Anti-Inflammatory Agents, Non-Steroidal Phase 2
31 Analgesics Phase 2
32 Cyclooxygenase Inhibitors Phase 2
33 Cola Phase 2
34 Antirheumatic Agents Phase 2
35 Anti-Inflammatory Agents Phase 2
36 Immunologic Factors Phase 2
37 Antibiotics, Antitubercular Phase 2
38 Antifungal Agents Phase 2
39 Immunosuppressive Agents Phase 2

Interventional clinical trials:

(show all 19)
# 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 A Randomised, Double Blind, Placebo Controlled Trial of Doxycycline in Lymphangioleiomyomatosis. Completed NCT00989742 Phase 4 Doxycycline;Placebo
3 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
4 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
5 A Phase II Multi-Center Study of Rapamycin for Treating Kidney Angiomyolipomas in TSC or LAM Patients Unknown status NCT00126672 Phase 2 sirolimus
6 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
7 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers: Pilot Trial Completed NCT02104011 Phase 2 Propranolol
8 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)
9 RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis Complex and Sporadic Lymphangioleiomyomatosis Completed NCT00457964 Phase 1, Phase 2 RAD001
10 Phase II Study of Everolimus (RAD001, Afinitor®) for Children With Recurrent or Progressive Ependymoma Completed NCT02155920 Phase 2 Everolimus
11 A Pilot Study To Evaluate The Effects of Everolimus on Brain mTOR Activity and Cortical Hyperexcitability in TSC and FCD Recruiting NCT02451696 Phase 2 Everolimus
12 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Active, not recruiting NCT02484664 Phase 2 Celecoxib
13 A Phase II Study of Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Therapy Terminated NCT02539459 Phase 2 Everolimus
14 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
15 Tuberous Sclerosis Complex Natural History Study: Renal Manifestations Completed NCT00598455
16 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
17 EASYX-1 : A Multicenter Study on Safety and Efficacy of Easyx Liquid Embolization Agent Used in Five Separate Indications Recruiting NCT03477149
18 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
19 Epidemiological Study of the Genetic Heterogeneity and Genotype-phenotype Correlation of Children and Adults With Tuberous Sclerosis Complex - An International, Multicenter, Epidemiological 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, Liver, Lung, Lymph Node, Colon, Smooth Muscle, Adrenal Gland

Publications for Angiomyolipoma

Articles related to Angiomyolipoma:

(show top 50) (show all 3169)
# 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. 54 61
20043511 2009
3
The methylation of the TSC2 promoter underlies the abnormal growth of TSC2 angiomyolipoma-derived smooth muscle cells. 61 54
19443708 2009
4
Focal cortical dysplasia: a genotype-phenotype analysis of polymorphisms and mutations in the TSC genes. 61 54
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. 61 54
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. 54 61
18547304 2008
9
[Epithelioid renal angiomyolipoma]. 54 61
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. 54 61
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. 54 61
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
Sporadic subcutaneous angiomyolipoma with expression of estrogen and progesterone receptors. 61 54
17124601 2007
18
[Epithelioid angiomyolipoma of kidney: clinicopathologic study of two cases and review of literature]. 54 61
17374233 2007
19
Differential expression of melanocytic markers in myoid, lipomatous, and vascular components of renal angiomyolipomas. 61 54
17227112 2007
20
Rapid growth of a kidney angiomyolipoma after initiation of oral contraceptive therapy. 54 61
17018483 2006
21
Comparative genomic hybridization study of perivascular epithelioid cell tumor: molecular genetic evidence of perivascular epithelioid cell tumor as a distinctive neoplasm. 61 54
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. 54 61
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. 61 54
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. 54 61
14629307 2003
30
Mutation in TSC2 and activation of mammalian target of rapamycin signalling pathway in renal angiomyolipoma. 61 54
12711473 2003
31
Recurrent lymphangiomyomatosis after transplantation: genetic analyses reveal a metastatic mechanism. 54 61
12411287 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. 54 61
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
Melanoma markers in angiomyolipoma of the liver and kidney: a comparative study. 61 54
11800647 2002
38
An unusual renal angiomyolipoma with morphological lymphangioleiomyomatosis features and coexpression of oestrogen and progesterone receptors. 54 61
11942568 2002
39
Epithelioid angiomyolipoma of the ovary: a case report and literature review. 54 61
11781527 2002
40
[Concomitant occurrence of angiomyolipoma, focal nodular hyperplasia, bile duct adenoma, and cavernous hemangioma in the liver]. 61 54
11766641 2001
41
Leiomyomatosis-like lymphangioleiomyomatosis of the colon in a female with tuberous sclerosis. 61 54
11706076 2001
42
Chromosome 16 loss of heterozygosity in tuberous sclerosis and sporadic lymphangiomyomatosis. 54 61
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. 54 61
11485907 2001
44
Renal angiomyolipoma: further immunophenotypic characterization of an expanding morphologic spectrum. 54 61
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. 61 54
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. 61 54
10823953 2000
49
Paratesticular liposarcoma with smooth muscle differentiation mimicking angiomyolipoma. 54 61
10692023 2000
50
Frequent estrogen and progesterone receptor immunoreactivity in renal angiomyolipomas from women with pulmonary lymphangioleiomyomatosis. 61 54
10631194 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 TSC1-TSC2 complex GO:0033596 8.62 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 9.65 VIM MTOR MITF KIT ACTC1
2 positive regulation of endothelial cell proliferation GO:0001938 9.5 VEGFD MTOR CCL26
3 positive regulation of phospholipase C activity GO:0010863 9.43 KIT ESR1
4 anoikis GO:0043276 9.4 TSC2 MTOR
5 negative regulation of cell size GO:0045792 9.37 TSC1 MTOR
6 pigmentation GO:0043473 9.33 TYR MITF KIT
7 muscle filament sliding GO:0030049 9.13 VIM DES ACTC1
8 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 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 TFE3 PGR PAX8 MITF ESR1
2 identical protein binding GO:0042802 9.7 VIM TYR S100A1 PGR MTOR ESR1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 TFE3 PGR PAX8 MITF ESR1
4 protein binding GO:0005515 9.6 VIM VEGFD TYR TSC2 TSC1 TFE3
5 ATPase binding GO:0051117 9.5 S100A1 PGR ESR1
6 protein homodimerization activity GO:0042803 9.5 VEGFD TYR TSC2 S100A1 PTPRC MME

Sources for Angiomyolipoma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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