| Entry |
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| Name |
Renal angiomyolipoma |
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| Description |
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 hamartin and tuberin, 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.
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| Category |
Neoplasm
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| Brite |
Human diseases in ICD-11 classification [BR:br08403]
02 Neoplasms
Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
Benign neoplasms except of mesenchymal origin
2F35 Benign neoplasm of urinary organs
H01691 Renal angiomyolipoma
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06522 mTOR signaling
H01691 Renal angiomyolipoma
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| Pathway |
| hsa04072 | Phospholipase D signaling pathway |
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| Network |
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| Gene |
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| Drug |
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| Comment |
See also H00915 Tuberous sclerosis complex (TSC)
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| Other DBs |
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| Reference |
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| Authors |
Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB |
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| Title |
Update on the Diagnosis and Management of Renal Angiomyolipoma. |
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| Journal |
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| Reference |
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| Authors |
Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ |
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| Title |
Angiomyolipoma have common mutations in TSC2 but no other common genetic events. |
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| Journal |
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| Reference |
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| Authors |
Jiangyi W, Gang G, Guohai S, Dingwei Y |
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| Title |
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients. |
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| Journal |
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