Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Polycystic kidney disease, autosomal recessive

OMIM:263200
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolPKHD1
Reference transcriptNM_138694.3
DNA Changec.8312T>C
A.A. Changep.Val2771Ala
Exon/Intronexon 53
Mutation Typesubstitution
ReferenceBergmann C, Frank V, Kupper F, Schmidt C, Senderek J, Zerres K.Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
J Hum Genet. 2006;51(9):788-93.
Gene SymbolPKHD1
Reference transcriptNM_138694.3
DNA Changec.3761_3762delCCinsG
A.A. Changep.Ala1254Glyfs*49
Exon/Intronexon 32
Mutation Typeindel
ReferenceQuint A, Sagi M, Carmi S, Daum H, Macarov M, Ben Neriah Z, Meiner V, Elpeleg O, Lerer I. An Ashkenazi founder mutation in the PKHD1 gene.
Eur J Med Genet. 2016 Feb;59(2):86-90. doi: 10.1016/j.ejmg.2015.12.013. Epub 2015 Dec 23.