Warning: The NCBI web site requires JavaScript to function. more...

MedGen

National Center for Biotechnology Information

Full Report

Format

Full Report
Summary (Text)
Summary (XML)

Send to:

Choose Destination

File
Clipboard
Collections

Tsc2 angiomyolipomas, renal, modifier of

MedGen UID:: 442482
•Concept ID:: C2750460
•: Finding

Synonym:	Tsc2 Angiomyolipomas, Renal, Modifier Of

OMIM®:	147570; 613254

Recent clinical studies

Etiology

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Furlano M, Barreiro Y, Martí T, Facundo C, Ruiz-García C, DaSilva I, Ayasreh N, Cabrera-López C, Ballarín J, Ars E, Torra R
Nefrologia 2017 Jan-Feb;37(1):87-92. Epub 2016 Aug 29 doi: 10.1016/j.nefro.2016.04.007. PMID: 27595512

Rheb/mTOR/p70s6k Cascade and TFE3 Expression in Conventional and Sclerosing PEComas of the Urinary Tract.

Planelles M, Macías L, Peiró G, Bulimbasič S, Hes O, Robles A, Michal M, Davidson W, López JI
Appl Immunohistochem Mol Morphol 2016 Aug;24(7):514-20. doi: 10.1097/PAI.0000000000000209. PMID: 26258755

Diagnosis

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Furlano M, Barreiro Y, Martí T, Facundo C, Ruiz-García C, DaSilva I, Ayasreh N, Cabrera-López C, Ballarín J, Ars E, Torra R
Nefrologia 2017 Jan-Feb;37(1):87-92. Epub 2016 Aug 29 doi: 10.1016/j.nefro.2016.04.007. PMID: 27595512

Rheb/mTOR/p70s6k Cascade and TFE3 Expression in Conventional and Sclerosing PEComas of the Urinary Tract.

Planelles M, Macías L, Peiró G, Bulimbasič S, Hes O, Robles A, Michal M, Davidson W, López JI
Appl Immunohistochem Mol Morphol 2016 Aug;24(7):514-20. doi: 10.1097/PAI.0000000000000209. PMID: 26258755

Therapy

Renal angiomyolipoma bleeding in a patient with TSC2/PKD1 contiguous gene syndrome after 17 years of renal replacement therapy.

Furlano M, Barreiro Y, Martí T, Facundo C, Ruiz-García C, DaSilva I, Ayasreh N, Cabrera-López C, Ballarín J, Ars E, Torra R
Nefrologia 2017 Jan-Feb;37(1):87-92. Epub 2016 Aug 29 doi: 10.1016/j.nefro.2016.04.007. PMID: 27595512

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

ClinicalTrials.gov

Consumer resources

Reviews

Related information

ClinVar
Related medical variations
GTR
Related information in GTR
GTR(Clinical)
Clinical tests in GTR
MeSH
Related Medical Subject Headings
OMIM
Related records in OMIM
PubMed
Related literature resources in PubMed
PubMed (OMIM)
Related literature resources in PubMed

Recent activity

Clear Turn Off Turn On

Tsc2 angiomyolipomas, renal, modifier of
Tsc2 angiomyolipomas, renal, modifier of

MedGen
C2750460[conceptid] (1)
MedGen
C0393559[trait identifier] AND "OMIM"[submitter] (3)
ClinVar
C1842402[trait identifier] AND "OMIM"[submitter] (3)
ClinVar
C5779878[trait identifier] AND "OMIM"[submitter] (3)
ClinVar

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...