Table 1.
Summary of the ciliopathies
| Disorders | CNS defects | Other defects | Signal pathways |
|---|---|---|---|
| JBTS | Cerebellar malformation | Cystic kidney | Shh, Wnt, PI, PCP |
| Oculomotor apraxia | Polydactyly | ||
| Encephalocele | Retinitis pigmentosa | ||
| Hydrocephalus | Ataxia, hypotonia | ||
| Mental retardation | Cardiac defects | ||
| MKS | Encephalocele | Cystic kidney | Shh, PCP |
| Hydrocephalus | Polydactyly | ||
| Mental retardation | Retinal degeneration | ||
| Hepatic fibrosis | |||
| Cardiac defects | |||
| NPHP | Cerebellar malformation | Hepatic fibrosis | Shh, Wnt, PCP |
| Oculomotor apraxia | Situs inversus | ||
| Mental retardation | Retinitis pigmentosa | ||
| BBS | Mental retardation | Obestiy, diabetes | Shh, Wnt, PCP |
| Cystic kidney | |||
| Polydactyly | |||
| Retinal degeneration | |||
| OFD1 | Cerebellar malformation | Craniofacial malformation | PCP |
| Hydrocephalus | Polydactyly | ||
| Mental retardation | Cystic kidney |
CNS, central nervous system; JBTS, Joubert syndrome; MKS, Meckel–Gruber syndrome; NPHP, nephronophthisis; OFD1, oral–facial–digital syndrome type 1; PCP, planar cell polarity; PI, phosphatidylinositol; Shh, sonic hedgehog; Wnt, wingless.