KEGG   VARIANT: 776v1
Entry
776v1                      Variant                                 
Name
CACNA1D gain-of-function mutation
Type
Gain of function
Gene
CACNA1D  calcium voltage-gated channel subunit alpha1 D [KO:K04851]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114206
Network
nt06316  Renin-angiotensin-aldosterone signaling
nt06528  Calcium signaling
Disease
H01603  Primary aldosteronism
Reference
  Authors
Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP
  Title
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
  Journal
Nat Genet 45:1050-4 (2013)
DOI:10.1038/ng.2695
Reference
  Authors
Dutta RK, Soderkvist P, Gimm O
  Title
Genetics of primary hyperaldosteronism.
  Journal
Endocr Relat Cancer 23:R437-54 (2016)
DOI:10.1530/ERC-16-0055
Reference
  Authors
Al-Salameh A, Cohen R, Desailloud R
  Title
Overview of the genetic determinants of primary aldosteronism.
  Journal
Appl Clin Genet 7:67-79 (2014)
DOI:10.2147/TACG.S45620
Reference
  Authors
Chen L, He Y, Wang X, Ge J, Li H
  Title
Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.
  Journal
Clin Transl Med 11:e530 (2021)
DOI:10.1002/ctm2.530
LinkDB

KEGG   VARIANT: 8912v1
Entry
8912v1                      Variant                                
Name
CACNA1H mutation
Type
Gain of function
Gene
CACNA1H  calcium voltage-gated channel subunit alpha1 H [KO:K04855]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607904
Network
nt06316  Renin-angiotensin-aldosterone signaling
nt06528  Calcium signaling
Disease
H00808  Idiopathic generalized epilepsies
H01603  Primary aldosteronism
Reference
  Authors
Dutta RK, Soderkvist P, Gimm O
  Title
Genetics of primary hyperaldosteronism.
  Journal
Endocr Relat Cancer 23:R437-54 (2016)
DOI:10.1530/ERC-16-0055
Reference
  Authors
Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP
  Title
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
  Journal
Elife 4:e06315 (2015)
DOI:10.7554/eLife.06315
Reference
  Authors
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F
  Title
Calcium channelopathies and intellectual disability: a systematic review.
  Journal
Orphanet J Rare Dis 16:219 (2021)
DOI:10.1186/s13023-021-01850-0
LinkDB

DBGET integrated database retrieval system