KEGG   DISEASE: 瞳孔反射異常を伴う自律神経膀胱機能障害および先天性腎尿路奇形
エントリ  
H02796                                                             
名称    
瞳孔反射異常を伴う自律神経膀胱機能障害および先天性腎尿路奇形
概要    
Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT (BAIPRCK) is an autosomal recessive disease characterized by congenital anomalies of the kidney and urinary tract (CAKUT) and additional extra-renal dysautonomic features. It has been reported that mutations in CHRNA3 cause this disease. CHRNA3 encodes the subunit of the nicotinic acetylcholine receptor. Nicotinic acetylcholine receptors are pentameric ligand-gated ion channels that are widely expressed in the nervous system and in certain non-neuronal tissues, such as the bladder urothelium.
カテゴリ  
先天奇形
階層分類  
ICD-11 による疾患分類 [BR:jp08403]
 20 発達異常
  主に1つの体系に影響する構造的発達異常
   尿路系の構造的発達異常
    LB3Y  その他の明示された尿路系の構造的発達異常
     H02796  瞳孔反射異常を伴う自律神経膀胱機能障害および先天性腎尿路奇形
パスウェイに基づく疾患分類 [BR:jp08402]
 細胞プロセス
  nt06544  神経刺激性リガンドのシグナリング
   H02796  瞳孔反射異常を伴う自律神経膀胱機能障害および先天性腎尿路奇形
パスウェイ 
hsa04725  Cholinergic synapse
hsa04082  Neuroactive ligand signaling
ネットワーク
nt06544 Neuroactive ligand signaling
病因遺伝子 
CHRNA3 [HSA:1136] [KO:K04805]
リンク   
ICD-11: LB3Y
OMIM: 191800
文献    
PMID:31708116
  著者
Mann N, Kause F, Henze EK, Gharpure A, Shril S, Connaughton DM, Nakayama M, Klambt V, Majmundar AJ, Wu CW, Kolvenbach CM, Dai R, Chen J, van der Ven AT, Ityel H, Tooley MJ, Kari JA, Bownass L, El Desoky S, De Franco E, Shalaby M, Tasic V, Bauer SB, Lee RS, Beckel JM, Yu W, Mane SM, Lifton RP, Reutter H, Ellard S, Hibbs RE, Kawate T, Hildebrandt F
  タイトル
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
  雑誌
Am J Hum Genet 105:1286-1293 (2019)
DOI:10.1016/j.ajhg.2019.10.004
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