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 |
| LRP5 |
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 |
| LRP6 | early coronary disease | Mani, 2007 |
| LRP6 | Late onset Alzheimer | De Ferrari 2007 |
| FZD4 |
Familial Exudative Vitreoretinopathy: retinal angiogenesis |
Robitaille, 2002 |
| 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 | |
| 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 |
| RSPO4 | autosomal recessive anonychia | Bergmann 2006, Blaydon 2006 |
| VANGL1 | Neural tube defects | Kibar, 2007 |