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] |