Human genetic diseases and Wnt signaling components (updated December 2009)

There are many cases of genetic diseases due to mutations in Wnt signaling components. See for a review: WNT and beta-catenin signalling: diseases and therapies. Moon RT, Kohn AD, De Ferrari GV, Kaykas A. Nat Rev Genet. 2004 Sep;5(9):691-701.

Gene Disease References:
APC Polyposis coli Kinzler et al 1991, Nishisho et al 1991

Bone Density defects

Vascular defects in the eye (Osteoperosis-pseudoglioma Syndrome, OPPG)

Gong, 2001 Little, 2002, Boyden, 2002
LRP5 Familial Exudative Vitreoretinopathy Toomes et al, 2004

Qin 2005

LRP6 early coronary disease Mani, 2007
LRP6 Late onset Alzheimer De Ferrari 2007

Familial Exudative Vitreoretinopathy:

retinal angiogenesis

Robitaille, 2002

Qin 2005

Norrin Familial Exudative Vitreoretinopathy Xu et al, 2004


Tetra-Amelia Niemann et al 2004
WNT4 Mullerian-duct regression and virilization Biason-Lauber 2004
WNT4 SERKAL syndrome Mandel, 2008
WNT5B Type II diabetes Kanazawa 2004
WNT7A Fuhrmann syndrome Woods 2006
WNT10A Odonto-onycho-dermal dysplasia Adaimy, 2007
WNT10B Obesity Christodoulides 2006
WNT10B Split-Hand/Foot Malformation Ugur, 2008
AXIN1 caudal duplication Oates, 2006
TCF7L2 (TCF4) Type II diabetes
Grant 2006
Florez 2006
O'Rahilly 2006
AXIN2 Tooth agenesis Lammli et al, 2004
WTX Wilms tumor Major, 2007, Rivera, 2007
WTX skeletal dysplasia Jenkins, 2009
PORC1 Focal dermal hypoplasia Grzeschik 2007

Wang 2007

RSPO4 autosomal recessive anonychia Bergmann 2006, Blaydon 2006
VANGL1 Neural tube defects Kibar, 2007