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

Pycnodysostosis

OMIM:265800
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolCTSK
Reference transcriptNM_000396.3
DNA Changec.436G>C
A.A. Changep.Gly146Arg
Exon/Intronexon 5
Mutation Typesubstitution
ReferenceGelb BD, Shi GP, Chapman HA, Desnick RJ.Pycnodysostosis, a lysosomal disease caused by cathepsin K deficiency.
Science. 1996 Aug 30;273(5279):1236-8.
Gene SymbolCTSK
Reference transcriptNM_000396.3
DNA Changec.60_61dupGA
A.A. Changep.I21Rfsx29
Exon/Intronexon 2
Mutation Typeduplication
ReferenceDonnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, Di Rocco M, Filocamo M.Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis.
Hum Mutat. 2007 May;28(5):524.