KEGG   DISEASE: Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT
Entry
H02796                      Disease                                
Name
Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT
Description
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.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the urinary system
    LB3Y  Other specified structural developmental anomalies of the urinary system
     H02796  Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06544  Neuroactive ligand signaling
   H02796  Autonomic bladder dysfunction with impaired pupillary reflex and secondary CAKUT
Pathway
hsa04725  Cholinergic synapse
hsa04082  Neuroactive ligand signaling
Network
nt06544 Neuroactive ligand signaling
Gene
CHRNA3 [HSA:1136] [KO:K04805]
Other DBs
ICD-11: LB3Y
OMIM: 191800
Reference
PMID:31708116
  Authors
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
  Title
CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.
  Journal
Am J Hum Genet 105:1286-1293 (2019)
DOI:10.1016/j.ajhg.2019.10.004
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