Angiomyolipoma causes: Difference between revisions
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{{Angiomyolipoma}} | {{Angiomyolipoma}} | ||
{{CMG}} {{AE}}{{Faizan}} | {{CMG}} {{AE}}{{Faizan}}, {{Rekha}} | ||
==Overview== | ==Overview== | ||
Angiomyolipoma is caused by a mutation in the ''TSC1'' gene. It can also be caused by a defect in ''TSC2'' [[gene]]. | [[Angiomyolipoma]] is caused by a [[mutation]] in the ''[[TSC1]]'' gene. It can also be caused by a defect in ''[[TSC2]]'' [[gene]]. | ||
==Causes== | ==Causes== | ||
Angiomyolipoma is caused by a | |||
=== Genetic Causes === | |||
* [[Angiomyolipoma]] is caused by a [[mutation]] in the following genes:<ref name="pmid24920756">{{cite journal| author=Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T et al.| title=Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy. | journal=Am J Physiol Renal Physiol | year= 2014 | volume= 307 | issue= 5 | pages= F560-70 | pmid=24920756 | doi=10.1152/ajprenal.00569.2013 | pmc=4868369 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24920756 }}</ref><ref name="pmid200435113">{{cite journal| author=Walsh SN, Sangüeza OP| title=PEComas: a review with emphasis on cutaneous lesions. | journal=Semin Diagn Pathol | year= 2009 | volume= 26 | issue= 3 | pages= 123-30 | pmid=20043511 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20043511 }}</ref><ref name="pmid18080139">{{cite journal| author=Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F| title=PEComas: the past, the present and the future. | journal=Virchows Arch | year= 2008 | volume= 452 | issue= 2 | pages= 119-32 | pmid=18080139 | doi=10.1007/s00428-007-0509-1 | pmc=2234444 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18080139 }}</ref> | |||
**''[[TSC1]]'' gene | |||
** ''[[TSC2]]'' [[gene]] | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 20:51, 5 November 2019
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Faizan Sheraz, M.D. [2], Rekha, M.D.
Overview
Angiomyolipoma is caused by a mutation in the TSC1 gene. It can also be caused by a defect in TSC2 gene.
Causes
Genetic Causes
References
- ↑ Siroky BJ, Yin H, Dixon BP, Reichert RJ, Hellmann AR, Ramkumar T; et al. (2014). "Evidence for pericyte origin of TSC-associated renal angiomyolipomas and implications for angiotensin receptor inhibition therapy". Am J Physiol Renal Physiol. 307 (5): F560–70. doi:10.1152/ajprenal.00569.2013. PMC 4868369. PMID 24920756.
- ↑ Walsh SN, Sangüeza OP (2009). "PEComas: a review with emphasis on cutaneous lesions". Semin Diagn Pathol. 26 (3): 123–30. PMID 20043511.
- ↑ Martignoni G, Pea M, Reghellin D, Zamboni G, Bonetti F (2008). "PEComas: the past, the present and the future". Virchows Arch. 452 (2): 119–32. doi:10.1007/s00428-007-0509-1. PMC 2234444. PMID 18080139.