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Table 1 Ciliary proteins associated with human genetic disease.

From: The dynamic cilium in human diseases

Human Disease Hereditary transmission Disease pathology OMIM number Gene symbol References
Primary Ciliary Dyskinesia Autosomal recessive Respiratory infections, anosmia, male infertility, otitis media and situs inversus 604366 DNAI1 [67]
    603335 DNAH5 [68]
    603339 DNAH11 [69]
    612444 DNAI2 [70]
    607421 TXNDC3 [71]
    612650 RSPH9 [72]
    612650 RSPH4A [72]
Meckel-Gruber syndrome Autosomal recessive Brain malformation, polydactyly, kidney and liver cysts 249000 MKS1, BBS13 [79]
    607361 MKS3, TMEM, JBTS6 [81]
    611134 MKS4, CEP290, JBTS5 [78]
    611561 MKS5, RPGRIP1L, JBTS7 [80]
    612013 MKS6, CC2D2A [77]
Autosomal dominant form of polycystic kidney disease Autosomal dominant Polycystic kidney 601313 PKD1 [32]
    173910 PKD2 [33]
Autosomal recessive form of polycystic kidney disease Autosomal recessive Polycystic kidney 606702 PKHD1 [88]
Nephronophthisis type 1
(juvenile)
Autosomal recessive Kidney cysts, liver fibrosis, retinal dysplasia 607100 NPHP1 [100]
Nephronophthisis type 2 (infantile)   602088 NPHP2, INV [96]
Nephronophthisis type 3 (adolescent)   608002 NPHP3 [95]
Nephronophthisis type 4    607215 NPHP4 [101]
Nephronophthisis type 5    602937 NPHP5/IQCB1I [97]
Nephronophthisis type 6    610142 NPHP6/CEP290 [99]
Nephronophthisis type 7    611498 NPHP7, GLIS2 [98]
Nephronophthisis type 8    610937 NPHP8, RPGRIP1L [80]; [102]
Nephronophthisis type 9    609799 NPHP9, NEK8 [103]
Joubert syndrome 1 Autosomal recessive CNS abnormalities, kidney cysts, brain and retina malformations 608629 AHI1 [108]
Joubert syndrome 4    609583 NPHP1 [107]
Joubert syndrome 5    610188 NPHP6/CEP290 [110]
Joubert syndrome 6    610688 MKS3, TMEM, JBTS6 [84]
Joubert syndrome 7    611560 MSK5, RPGRIP1L, JBTS7 [80]; [109]
Retinitis pigmentosa 1 Autosomal recessive Retinal degeneration 180100 RP1 [117]
Retinitis pigmentosa 3 X-linked recessive   300389 RPGR* [118]
Senior-Loken syndrome 1 Autosomal recessive Renal dysfuntions and retinal degeneration 266900 NPHP1 [119]
Senior-Loken syndrome 4    606996 NPHP4 [101]
Senior-Loken syndrome 5    609254 NPHP5/IQCB1 [97]
Senior-Loken syndrome 6    610189 NPHP6/CEP290 [99]
Oral-facial-digital syndrome type I X-linked dominant Malformations of the face, oral cavity and digits, kidney cysts 311200 OFD1 [121]
Bardet-Biedl syndrome Autosomal recessive Kidney cysts, obesity, anosmia, retinal dystrophy, male infertility, situs inversus, diabetes 209901 BBS1 [128]
    606151 BBS2 [123]
    608845 BBS3, ARL6 [131]
    600374 BBS4 [130]
    603650 BBS5 [127]
    604896 BBS6, MKKS [124]
    607590 BBS7 [129]
    608132 BBS8, TTC8 [126]
    607968 BBS9, PTHB1 [133]
    610148 BBS10 [125]
    602290 BBS11, TRIM32 [132]
    610683 BBS12 [134]
    609883 BBS13, MKS1 [135]
    609883 BBS14, CEP290 [135]
Almström syndrome Autosomal recessive Retinitis pigmentosa, deafness, obesity and diabetes mellitus 203800 ALMS1 [143, 144]
  1. *Note that Moore and colleagues found mutations in the RPGR gene in patients affected by both primary ciliary dyskinesia (PCD) and retinitis pigmentosa (RP) indicating an X-linked transmission of PCD [76].