Table 2.
The ciliopathies as noted in the OMIM database; note that inheritance of all diseases is autosomal-recessive
| Disease | Clinical features | Gene | OMIM number |
|---|---|---|---|
| Alström syndrome | Childhood obesity and type II diabetes, blindness due to congenital retinal dystrophy, and sensori-neural hearing loss | ALMS1 gene, 2p13 | 203800 |
| Bardet-Biedl syndrome | Rod-cone dystrophy | BBS1, 11q13 | 209901 |
| Polydactyly | BBS2, 16q21 | 606151 | |
| Obesity | BBS3, 3p12-q13 | 608845 | |
| Learning disabilities | BBS4, 15q22.3 | 600374 | |
| Hypogonadism in males | BBS5, 2q31 | 603650 | |
| Renal anomalies (similar to nephronophthisis) | BBS6, 20p12 | 604896 | |
| BBS7, 4q27 | 607590 | ||
| BBS8, 14q32.11 | 608132 | ||
| See also text and table 1 | BBS9, 7p14 | 607968 | |
| BBS10, 12q | 610148 | ||
| BBS11, 9q33.1 | 602290 | ||
| BBS12, 4q27 | 610683 | ||
| BBS13, 17q23 | 609883 | ||
| BBS14, 12q21.3 | 610142 | ||
| Nephronophthisis | Renal cysts in the cortico-medullary junction with polyuria and | NPHP1, 2q13 | 256100 |
| renal impairment | NPHP2, 9q31 | 602088 | |
| Other manifestations: | NPHP3, 3q22 | 604387 | |
| Tapeto-retinal degeneration (Senior Løken syndrome) | NPHP4, 1p36 | 606966 | |
| Hepatic fibrosis | NPHP5, 3q21.1 | 609254 | |
| Cone shaped epiphyses | NPHP6, 12q21.3 | 610142 | |
| Vermis aplasia and ataxia (Joubert syndrome) | NPHP7, 16p13.3 | 611498 | |
| Primary ciliary diskinesis | Sinusitis, bronchiectasis, situs inversus (Kartagener's syndrome) | 9p21-p13 | 24440 |
| Meckel syndrome (also known as Meckel Gruber syndrome) | Dysplastic kidneys, polydactyly, occipital encephalocele; high mortality; prenatal ultrasound diagnosis possible | MKS1, 17q21–q24 | 249000 |
| MKS2, 11q13 | 603194 | ||
| MKS3, 8q24 | 607361 |