Ciliopathies
"The phenotypic parameters that define a ciliopathy may be used to both recognize the cellular basis of a number of genetic disorders and to facilitate the diagnosis and treatment of some diseases of unknown etiology".
| Condition | OMIM | Gene(s) | Systems/organs |
|---|---|---|---|
| Alstrom syndrome, | 203800 | ALMS1 | |
| Bardet-Biedl syndrome, | 209900 | BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12 | |
| Joubert syndrome | 213300 | INPP5E, TMEM216, AHI1, NPHP1, CEP290, TMEM67, RPGRIP1L, ARL13B, CC2D2A, BRCC3 | brain |
| Meckel-Gruber syndrome | 249000 | MKS1, TMEM67, TMEM216, CEP290, RPGRIP1L, CC2D2A | liver, heart, bone |
| nephronophthisis, | 256100 | NPHP1, INVS, NPHP3, NPHP4, IQCB1, CEP290, GLIS2, RPGRIP1L | kidney |
| orofaciodigital syndrome 1 | 311200 | OFD1 | |
| Senior-Loken syndrome | 266900 | NPHP1, NPHP4, IQCB1, CEP290, SDCCAG8 | eye |
| polycystic kidney disease, (ADPKD and ARPKD) | 173900 | PKD1, PKD2, PKHD1 | kidney |
| primary ciliary dyskinesia (Kartagener Syndrome) | 244400 | DNAI1, DNAH5, TXNDC3, DNAH11, DNAI2, KTU, RSPH4A, RSPH9, LRRC50 | |
| asphyxiating thoracic dysplasia (Jeune) | 208500 | ||
| Marden-Walker syndrome | 248700 | ||
| situs inversus/Isomerism | 270100 | ||
| ? | ? | IFT88 | Novel form of ciliopathy and consequent anosmia, reported in 2012. |
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