Amish, Mennonite, and Hutterite
Genetic Disorder Database

Polycystic kidney disease 1

Disorder
OMIM #: #173900  (Click to access OMIM database)
Disorder: Polycystic kidney disease 1 
Also known as: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE
PKD1 POLYCYSTIC KIDNEY DISEASE, ADULT
ADPKD POLYCYSTIC KIDNEY DISEASE, ADULT, TYPE I
APKD1 POTTER TYPE III POLYCYSTIC KIDNEY DISEASE, FORMERLY 
Clinical
Phenotype: renal cysts, liver cysts, intracranial aneurysm, acute and chronic pain, nephrolithiasis, end-stage renal disease 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: PKD1
Base Change: c.12138+2T>C
Amino Acid Change:
Last updated: 2019-07-04 

References
Personal communication; seen at CSC.  

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