KEGG   VARIANT: 5566v1
Entry
5566v1                      Variant                                
Name
PRKACA mutation
Gene
PRKACA  protein kinase cAMP-activated catalytic subunit alpha [KO:K04345]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L206R
ClinVar: 91945
dbSNP: rs386352352
Network
nt06310  CRH-ACTH-cortisol signaling
nt06360  Cushing syndrome
Disease
H01431  Cushing syndrome
H02049  Bilateral macronodular adrenal hyperplasia
Reference
  Authors
Beuschlein F, Fassnacht M, Assie G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B
  Title
Constitutive activation of PKA catalytic subunit in adrenal Cushing's syndrome.
  Journal
N Engl J Med 370:1019-28 (2014)
DOI:10.1056/NEJMoa1310359
Reference
  Authors
Sato Y, Maekawa S, Ishii R, Sanada M, Morikawa T, Shiraishi Y, Yoshida K, Nagata Y, Sato-Otsubo A, Yoshizato T, Suzuki H, Shiozawa Y, Kataoka K, Kon A, Aoki K, Chiba K, Tanaka H, Kume H, Miyano S, Fukayama M, Nureki O, Homma Y, Ogawa S
  Title
Recurrent somatic mutations underlie corticotropin-independent Cushing's syndrome.
  Journal
Science 344:917-20 (2014)
DOI:10.1126/science.1252328
Reference
  Authors
Lacroix A, Feelders RA, Stratakis CA, Nieman LK
  Title
Cushing's syndrome.
  Journal
Lancet 386:913-27 (2015)
DOI:10.1016/S0140-6736(14)61375-1
Reference
  Authors
Lodish M, Stratakis CA
  Title
A genetic and molecular update on adrenocortical causes of Cushing syndrome.
  Journal
Nat Rev Endocrinol 12:255-62 (2016)
DOI:10.1038/nrendo.2016.24
Reference
  Authors
Duan K, Gomez Hernandez K, Mete O
  Title
Clinicopathological correlates of adrenal Cushing's syndrome.
  Journal
J Clin Pathol 68:175-86 (2015)
DOI:10.1136/jclinpath-2014-202612
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