Human genetic diseases and Wnt signaling components

There are many cases of genetic diseases due to mutations in Wnt signaling components. Among these are several where multiple Wnt signaling components have been found as mutated in families. These diseases include abnormalities in bone density, tooth development and the retina. Another example is Robinow syndrome, associated with mutations in three different Wnt signaling components: ROR2 (Van Bokhoven et al, 2000), WNT5A and DVL1.

The table lists many of these diseases and the genes mutated.

See for reviews

Moon, RT et al, WNT and beta-catenin signalling: diseases and therapies. Nat Rev Genet. 2004 Sep;5(9):691-701
Clevers, H and Nusse, R. Wnt/β-Catenin Signaling and Disease.Cell. 2012 Jun 8;149(6):1192-205.
Anastas, JN and Moon, RT WNT signalling pathways as therapeutic targets in cancer.Nature Rev Cancer 13 2013:11-26

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 Qin 2005
LRP6	early coronary disease	Mani, 2007
LRP6	Late onset Alzheimer	De Ferrari 2007
LRP6	Autosomal-Dominant Oligodontia	Massink, 2015
FZD4	Familial Exudative Vitreoretinopathy: retinal angiogenesis	Robitaille, 2002 Qin 2005
FZD9	Williams Syndrome	Wang 1997 Chailangkarn 2016
Norrin	Familial Exudative Vitreoretinopathy	Xu et al, 2004
WNT1	Osteogenesis imperfecta	Fahiminiya et al, 2013 Pyott et al, 2013 Keupp et al., 2013 Laine et al, 2013
WNT3	Tetra-Amelia	Niemann et al 2004
WNT4	Mullerian-duct regression and virilization	Biason-Lauber 2004
WNT4	SERKAL syndrome	Mandel, 2008
WNT5A	Robinow syndrome	Person 2010
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
WNT10B	Oligodontia	Yu, 2016
WNT16	Bone density	Zheng et al, 2012
DVL1	Robinow Syndrome.	(White et al, 2015)
AXIN1	caudal duplication	Oates, 2006
TCF7L2 (TCF4)	Type II diabetes	Grant 2006 Florez 2006 O'Rahilly 2006
AXIN2	Tooth agenesis	Lammli et al, 2004 Marvin et al, 2011
WTX	Wilms tumor	Major, 2007, Rivera, 2007
WTX	skeletal dysplasia	Jenkins, 2009
PORCN	Focal dermal hypoplasia	Grzeschik 2007 Wang 2007
RSPO1	Palmoplantar hyperkeratosis	Parma 2006
RSPO2	Tetra-amelia	Szenker-Ravi, 2018
RSPO4	autosomal recessive anonychia	Bergmann 2006, Blaydon 2006
LGR4	Bone Density defects	Styrkarsdottir et al, 2013
VANGL1	Neural tube defects	Kibar, 2007
SOST	Sclerosteosis and Van Buchem disease	Balemans, 2001, 2002, Brunkow, 2001
SFRP4	Pyle's disease (Bone density)	Simsek Kiper 2016
ROR2	Robinow syndrome	Van Bokhoven et al, 2000
WLS (Wntless)	Pleiotropic Multiorgan Condition	Chai et al, 2021