KEGG   DISEASE: Renal angiomyolipoma
Entry
H01691                      Disease                                
Name
Renal angiomyolipoma
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 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.
Category
Urinary system disease
Brite
Human diseases [BR:br08402]
 Urinary system diseases
  Kidney diseases
   H01691  Renal angiomyolipoma
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Benign neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Benign non-mesenchymal neoplasms
    2F35  Benign neoplasm of urinary organs
     H01691  Renal angiomyolipoma
Related
pathway
hsa04152  AMPK signaling pathway
hsa04150  mTOR signaling pathway
hsa04072  Phospholipase D signaling pathway
Network
nt06522  mTOR signaling
Gene
(TSC1) TSC1 [HSA:7248] [KO:K07206]
(TSC2) TSC2 [HSA:7249] [KO:K07207]
Drug
Everolimus [DR:D02714]
Comment
See also H00915 Tuberous sclerosis complex (TSC)
Other DBs
ICD-11: 2F35
ICD-10: D30.0
MeSH: D018207
Reference
  Authors
Flum AS, Hamoui N, Said MA, Yang XJ, Casalino DD, McGuire BB, Perry KT, Nadler RB
  Title
Update on the Diagnosis and Management of Renal Angiomyolipoma.
  Journal
J Urol 195:834-46 (2016)
DOI:10.1016/j.juro.2015.07.126
Reference
PMID:21949787 (TSC2)
  Authors
Qin W, Bajaj V, Malinowska I, Lu X, MacConaill L, Wu CL, Kwiatkowski DJ
  Title
Angiomyolipoma have common mutations in TSC2 but no other common genetic events.
  Journal
PLoS One 6:e24919 (2011)
DOI:10.1371/journal.pone.0024919
Reference
PMID:31927531 (TSC1 TSC2)
  Authors
Jiangyi W, Gang G, Guohai S, Dingwei Y
  Title
Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.
  Journal
Aging (Albany NY) 12:756-766 (2020)
DOI:10.18632/aging.102654
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