Abstract
This is a list for quick reference of cadherins in human diseases.
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This is a list for quick reference of cadherins in human diseases.
Please note that many unproven candidates and possible involvements (some are marked by *) are also listed. In addition, this is not a complete list and there are many omissions of citations.
1 List of Cadherin-Related Diseases
G Mendelian genetic, M multifactorial, E epigenetic, A autoimmune, I infection, P Expression profile, X experimental
Cadherins/Gene type | Diseases | References | |
|---|---|---|---|
Classic cadherins | |||
E-cadherin (CDH1) | G | Gastric cancer (HDGC) (OMIM137215) | Guilford et al. (1998) |
G | Lobular breast cancer (OMIM114480) | Masciari et al. (2007) | |
G | Endometrial carcinoma (OMIM608089) | Risinger et al. (1994) | |
G | Ovarian cancer (OMIM167000) | Risinger et al. (1994) | |
M | Prostate cancer (OMIM176807) | Jonsson et al. (2004) | |
M | Ulcerative colitis (UC) | Barrett et al. (2009) | |
M | Asthma | Ierodiakonou et al. (2011) | |
M | *Crohn disease (OMIM266600) | Elding et al. (2011) | |
I | Candidiasis | Phan et al. (2007) | |
I | Listeria infection | Mengaud et al. (1996) | |
A | Pemphigus Foliaceus | Flores et al. (2012) | |
N-cadherin (CDH2) | I | Candidiasis | Phan et al. (2007) |
P-cadherin (CDH3) | G | Hypotrichosis with juvenile macular dystrophy HJMD (OMIM601553) | Sprecher et al. (2001) |
G | EEM syndrome (OMIM225280) | Kjaer et al. (2005) | |
M | *Crohn disease (OMIM266600) | Elding et al. (2011) | |
M | Autism spectrum disorders (ASD) | O’Roak et al. (2012) | |
R-cadherin (CDH4) | M | Chronic kidney disease without diabetes mellius | Yoshida et al. (2010) |
M | Schizophrenia | Girard et al. (2011) | |
E | *Colorectal and Gastric cancer | Miotto et al. (2004) | |
VE-cadherin (CDH5) | M | Central Serous Chorioretinopathy | Schubert et al. (2014) |
M | Autism spectrum disorders (ASD) | O’Roak et al. (2012) | |
I | Infection by Leptospira | Evangelista et al. (2014) | |
A | *Rheumatoid arthritis, Behçet’s disease *Systemic lupus erythematosus | Bouillet et al. (2013) | |
K-cadherin (CDH6) | M | Autism spectrum disorders (ASD) | Butler et al. (2015) |
G | *Myopia 19 | Ma et al. (2010) | |
CDH7 | M | Bipolar disorders | Soronen et al. (2010) |
M | *Ectodermal dysplasia (OMIM 602401) | Tariq et al. (2008) | |
M | Autism spectrum disorders (ASD) | O’Roak et al. (2012) | |
CDH8 | M | Learning disabilities, autism | Pagnamenta et al. (2011) |
CDH9 | M | *Autism, ASD (OMIM209850) | Wang et al. (2009) |
CDH10 | G | *Myopia 19 | Ma et al. (2010) |
M | *Autism, ASD (OMIM209850) | Wang et al. (2009) | |
CDH11 | E | *Cancer metastasis | Carmona et al. (2012) |
M | Alcoholism | Johnson et al. (2006) | |
M | Bipolar alcoholism | Lydall et al. (2011) | |
CDH12 | M | Bipolar alcoholism | Lydall et al. (2011) |
M | Leptin level | Zhang et al. (2013) | |
G | *Myopia 19 | Ma et al. (2010) | |
M | *Schizophrenia | Singh et al. (2010) | |
M-cadherin (CDH15) | M | Mental retardation (OMIM612580) | Bhalla et al. (2008) |
M | Autism | Willemsen et al. (2010) | |
CDH18 | M | Metabolic syndrome | Zhang et al. (2013) |
M | Colorectal cancer | Venkatachalam et al. (2011) | |
M | *Schizophrenia | Singh et al. (2010) | |
CDH19 | M | *Ectodermal dysplasia (OMIM 602401) | Tariq et al. (2008) |
CDH20 | M | Barrett’s adenocarcinoma | Wiech et al. (2009) |
PB-cadherin (CDH22) | M | Type2 diabetes | Bento et al. (2008) |
M | Kawasaki disease | Shendre et al. (2014) | |
Desmosomal cadherins | |||
desmoglein 1 (DSG1) | G | Palmoplantar Keratoderma (SPPK). (OMIM 148700) | Rickman et al. (1999) |
G | Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (EPKHE) (OMIM615508) = SAM syndrome | Samuelov et al. (2013) | |
A | Pemphigus foliaceus | Eyre and Stanley (1987) | |
A | Pemphigus vulgaris | Amagai et al. (1991) | |
A | Paraneoplastic pemphigus | Amagai et al. (1998) | |
I | Staphylococcal scalded-skin syndrome (SSSS) | Amagai et al. (2000) | |
desmoglein 2 (DSG2) | G | Arrhythmogenic right ventricular cardiomyopathy 10 (ARVC10) (OMIM 610193) | Pilichou et al. (2006) |
G | Cardiomyopathy, dilated, 1BB (CMD1BB) (OMIM 612877) | Posch et al. (2008) | |
X | *Colon cancer progression | Kamekura et al. (2014) | |
desmoglein 3 (DSG3) | A | Pemphigus vulgaris | Amagai et al. (1999) |
A | Paraneoplastic pemphigus | Amagai et al. (1998) | |
P | *Cancer progression | Brown and Wan (2015) | |
DSG4 | G | Localized autosomal recessive hypotrichosis (LAH1) (Hypotrichosis 6 OMIM 607903) | Kljuic et al. (2003) |
G | Monilethrix-like congenital hypotrichosis | Shimomura et al. (2006) | |
A | Pemphigus foliaceus | Nagasaka et al. (2004) | |
A | Pemphigus vulgaris | Nagasaka et al. (2004) | |
desmocollin 2 (DSC2) | G | Arrhythmogenic right ventricular dysplasia-11 (ARVD11, OMIM 610476) | Syrris et al. (2006) |
G | ARVD with mild palmoplantar keratoderma and woolly hair (Naxos disease) | Simpson et al. (2009) | |
X | *Cancer progression | Kolegraff et al. (2011) | |
desmocollin 3 (DSC3) | G | Hypotrichosis and recurrent skin vesicles (OMIM 613102) | Ayub et al. (2009) |
A | Pemphigus vulgaris | Mao et al. (2010) | |
T-cadherin | |||
T-cadherin (CDH13) | M | Serum adiponectin level | |
M | Metabolic syndrome | Fava et al. (2011) | |
M | Hypertension | Org et al. (2009) | |
M | Lung function in air pollution | Imboden et al. (2015) | |
M | Height | Axenovich et al. (2009) | |
M | *Hirschsprung disease | Carrasquillo et al. (2002) | |
M E | Lung cancer | Brock et al. (2008) | |
M | *Retinoblastomas | Gratias et al. (2007) | |
M | Prostate cancer | Thomas et al. (2008) | |
E | Non-small cell lung cancer (NSCLC) | Pesek et al. (2011) | |
M | Alcoholism | ||
M | d-Amphetamine response | Hart et al. (2012) | |
M | Methamphetamine dependence | Uhl et al. (2008b) | |
M | Addiction-related phenotypes | Uhl et al. (2008a) | |
M | Autism, Autism spectrum disorders (ASD) | Chapman et al. (2011) | |
M | Attention deficit hyperactivity disorder (ADHD) | ||
M | Personality | Terracciano et al. (2010) | |
M | Childhood asthma | Ding et al. (2013) | |
Protocadherin | |||
PCDH1 | M | Bronchial hyperresponsiveness (BHR) (asthma-related traits) | Koppelman et al. (2009) |
M | Eczema | Koning et al. (2012) | |
PCDH cluster | E | *Wilms’ tumor | Dallosso et al. (2009) |
E | *Colorectal cancer | Dallosso et al. (2012) | |
*Cervical cancer | Wang et al. (2015) | ||
PCDHΑ cluster | M | Schizophrenia and bipolar disorder | Lachman et al. (2008) |
M | Bipolar disorder | Pedrosa et al. (2008) | |
M | Autism | Anitha et al. (2013) | |
PCDHA3 | M | *Restless legs syndrome (RLS8) (OMIM 615197) | Weissbach et al. (2012) |
PCDHB4 | M | Autism spectrum disorders (ASD) | O’Roak et al. (2012) |
M | Microcephaly | Alazami et al. (2015) | |
PCDH7 | M | Epilepsy | Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies (2014) |
M | Body shape and cholesterol level | Surakka et al. (2011) | |
M | Survival in non-small cell lung cancer | Huang et al. (2009) | |
M | Sleep duration | Ollila et al. (2014) | |
PCDH8 | M | Autism spectrum disorders (ASD) | Butler et al. (2015) |
M | Cognition in the presence of type2 diabetes | Cox et al. (2014) | |
E | *Renal cell carcinoma | Morris et al. (2011) | |
P | *B-cell chronic lymphocytic leukemia | Mittal et al. (2007) | |
E | *Bladder cancer | Lin et al. (2013) | |
G? | *Retinoblastoma and mental retardation microdeletion syndrome | Caselli et al. (2007) | |
PCDH9 | M | ASD | Marshall et al. (2008) |
PCDH10 | E | Testicular cancer | Cheung et al. (2010) |
M | Autism | Morrow et al. (2008) | |
PCDH11X | M | Developmental dyslexia | Veerappa et al. (2013) |
M | *Schizophrenia, cerebral asymmetry | Levchenko et al. (2014) | |
M | *Tourette syndrome (OMIM 137580) | Melchior et al. (2013) | |
M | Late-onset Alzheimer’s disease | Carrasquillo et al. (2009) | |
PCDH11X, 11Y | M | Languate delay | Speevak and Farrell (2011) |
PCDH12 | M | Schizophrenia | Gregorio et al. (2009) |
PCDH17 | E | Prostate cancer | Lin et al. (2014) |
E | Bladder cancer | Wang et al. (2014) | |
G? | *Retinoblastoma and mental retardation microdeletion syndrome | Caselli et al. (2007) | |
PCDH18 | M | Autism | Morrow et al. (2008) |
PCDH19 | G | Early infantile epileptic encephalopathy-9 (EIEE9) = epilepsy and mental retardation restricted to females (EFMR) (OMIM 300088) | Dibbens et al. (2008) |
with Dvavet syndrome-like features | |||
with autism and cognitive impairment | |||
PCDH20 | E | Nasopharyngeal carcinoma | Chen et al. (2015) |
M | Sphingolipid metabolism | Demirkan et al. (2012) | |
FAT | |||
FAT1 | M | *Facioscapulohumeral dystrophy-like | Puppo et al. (2015) |
M | Autism spectrum disorders (ASDs) | Cukier et al. (2014) | |
M | 4q-syndrome | Sadeqzadeh et al. (2014) | |
M | *Cervical cancer | Chung et al. (2015) | |
P | Intrahepatic cholangiocarcinoma | Settakorn et al. (2005) | |
G P | Oral cancer | Nakaya et al. (2007) | |
P | *Breast cancer | Kwaepila et al. (2006) | |
M P | Various carcinomas and tumors | Sadeqzadeh et al. (2014) | |
M | Bipolar affective disorder (BPAD) | Blair et al. (2006) | |
FAT2 | M | Autism | Butler et al. (2015) |
M | *Restless legs syndrome (RLS8) (OMIM 615197) | Weissbach et al. (2012) | |
M | Pancreatic cancer | Tang et al. (2014) | |
M | *Colorectal cancer | Xie et al. (2014) | |
FAT3 | P | *Lung cancer | Rohrbeck and Borlak (2009) |
FAT4 | M | *Lung cancer | Berndt et al. (2011) |
M | Esophageal cancer | Du et al. (2013) | |
M | Gastric cancer | Wadhwa et al. (2013) | |
M | Melanoma | Nikolaev et al. (2012) | |
P | Breast cancer | Qi et al. (2009) | |
G | Van Maldergem syndrome-2 (VMLDS2) | Cappello et al. (2013) | |
G | *Hennekam lymphangiectasia-lymphedema syndrome-2 (HKLLS2; OMIM616006) (allele of VMLDS2) | Alders et al. (2014) | |
Dachsous | |||
DCHS1 | G | Van Maldergem syndrome-2 (VMLDS2) | Cappello et al. (2013) |
DCHS2 | M | Alzheimer’s disease | Kamboh et al. (2012) |
M | Osteoporosis | Han et al. (2012) | |
7D-cadherin | |||
LI-cadherin (CDH17) | M | Hepatocellular carcinoma | Wang et al. (2006) |
P | Gastric cancer | ||
M | Colorectal carcinoma | Chen et al. (2012) | |
P M | Various cancers | Weissbach et al. (2012) | |
M | Hypertension | Zhu et al. (2015) | |
Calsyntenin | |||
CLSTN1 Calsyntenin-1 | M | Pancreatic cancer | Tang et al. (2014) |
E | Prostate, colon, breast cancer | Chung et al. (2015) | |
M | Lung cancer | Langer et al. (2010) | |
CLSTN2 Calsyntenin-2 | M | Alzheimer’s disease (AD15) (OMIM611155) | Liu et al. (2007) |
Inner ear cadherins | |||
CDH23 | G | Usher syndrome ID (OMIM 601067) | |
G | Usher syndrome type ID/F (OMIM 601067) | Zheng et al. (2005) | |
G | Autosomal recessive deafness 12 (DFNB12) (OMIM601386) | ||
M | Personality | Terracciano et al. (2010) | |
M | Chronic kidney disease (CKD) | Gorski et al. (2015) | |
E | Alzheimer’s disease | De Jager et al. (2014) | |
PCDH15 | G | Usher syndrome IF (OMIM 602083) | Ahmed et al. (2001) |
G | Deafness, autosomal recessive 23 (DFNB23) (OMIM 609533) | Ahmed et al. (2003) | |
M | Extrapulmonary tuberculosis | Oki et al. (2011) | |
M | Late-onset Alzheimer’s disease (LOAD) | Fallin et al. (2010) | |
M | Familial combined hyperlipidemia (FCHL) | Huertas-Vazquez et al. (2010) | |
M | Retinal dystrophies | Coppieters et al. (2014) | |
M | Antibody response to smallpox vaccine | Ovsyannikova et al. (2012) | |
PCDH21 (CDHR1) | G | Cone-rod dystrophy15 (OMIM613660) | Ostergaard et al. (2010) |
Retinitis pigmentosa 65 | Henderson et al. (2010) | ||
CDHR3 (CDH28) | M | Asthma | Bonnelykke et al. (2014) |
CDH26 | M | Asthma | Ferreira et al. (2009) |
RET | G | Hirschsprung disease | |
G | Central hypoventilation syndrome (OMIM 209880) | Bolk et al. (1996) | |
G | Multiple endocrine neoplasia, Type II (OMIM 171400, 162300) | Shirahama et al. (1998) | |
G | Familial medullary thyroid carcinoma | Elisei et al. (2007) | |
G | Pheochromocytoma (OMIM 171300) | Eng et al. (1995) | |
G | Renal agenesis (OMIM 191830) | Skinner et al. (2008) | |
M | Vesicoureteral reflux (OMIM 193000) | Yang et al. (2008) | |
G | Congential anomalies of the kidney or urinary tract (CAKUT) | Hwang et al. (2014) | |
G | Various other cancers | Mulligan 2014) | |
CELSR1 | M | Spina bifida | Lei et al. (2014) |
M | Ischemic stroke | Yamada et al. (2009) | |
M | Hypertension | Ueyama et al. (2013) | |
CELSR2 | M | *Serum lipid | Wallace et al. (2008), Kathiresan et al. (2008) and Samani et al. (2008) |
M | *Coronary heart disease | ||
CELSR3 | E | Oral squamous cell carcinoma | Khor et al. (2014) |
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Acknowledgment
We often cited review articles as references for simplicity and due to space limitations, and we are sorry for any omissions of original works from the references. This work was supported by grants from and the Kansai Medical University Project for Young Researchers (to K.I.), the JSPS KAKENHI Grant Number 25430037, RIKEN cooperative research, Takeda Science Foundation, Sumitomo Foundation, and MEXT-Supported Program for the Strategic Research Foundation at Private Universities (S1201038) (to S. H.).
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Hirano, S., Imai-Okano, K. (2016). Cadherin-Related Diseases. In: Suzuki, S., Hirano, S. (eds) The Cadherin Superfamily. Springer, Tokyo. https://doi.org/10.1007/978-4-431-56033-3_15
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