Table 4.
Other syndromic ciliopathies
| Disease | Main features | Gene (locus) | Corresponding protein |
|---|---|---|---|
| Bardet–Biedl syndrome (BBS) | Obesity, hypogonadism, retinal degeneration, polydactyly, cognitive impairment, cystic kidneys of different type, DPM, diabetes mellitus and other metabolic defects, less common other features (hearing loss, anosmia, etc.) | BBS1 (11q13.2) | BBS1 |
| BBS2 (16q12.2) | BBS2 | ||
| ARL6/BBS3 (3q11.2) | ARL6 | ||
| BBS4 (15q24.1) | BBS4 | ||
| BBS5 (2q31.1) | BBS5 | ||
| MKKS/BBS6 (20p12.2) | MKKS | ||
| BBS7 (4q27) | BBS7 | ||
| TTC8/BBS8 (14q31.3) | TTC8 | ||
| BBS9 (7p14.3) | PTHB1 | ||
| BBS10 (12q21.2) | BBS10 | ||
| TRIM32/BBS11 (9q33.1) | TRIM32 | ||
| BBS12 (4q27) | BBS12 | ||
| MKS1/BBS13 (17q22) | MKS1 | ||
| CEP290/BBS14 (12q21.32) | CEP290 | ||
| WDPCP/BBS15 (2p15) | FRITZ | ||
| SDCCAG8/BBS16 (1q43) | SDCCAG8 | ||
| Alstrom syndrome | Obesity, retinal dystrophy, sensorineural hearing loss, dilated cardiomyopathy, progressive pulmonary, hepatic and renal failure, endocrinological features (hypogonadism, diabetes mellitus, hypothyroidism, hyperlipidemia), usually normal intelligence | ALMS1(2p13.1) | ALMS1 |
| Ivemark syndrome | Renal-hepatic-pancreatic dysplasia with disturbed body symmetry (situs ambiguous/inversus) and heterotaxy features such as asplenia/polysplenia and congenital heart defects. | NPHP3 (3q22.1) | Nephrocystin-3 |
| Joubert syndrome (JBTS) and related disorders (JSRD) | Complex mid-hindbrain malformation with cerebellar vermis hypoplasia (Molar Tooth Sign/MTS). Clinical correlates are developmental delay/mental retardation, neonatal irregular breathing, hypotonia, ataxia, and eye movement abnormalities. Other frequent features are polydactyly, retinal dystrophy, DPM, nephronophthisis and other cystic kidney disease phenotypes | INPP5E/JBTS1 (9q34.3) | INPP5E |
| TMEM216/JBTS2 (11q12.2) | TMEM216 | ||
| AHI1/JBTS3 (6q23.3) | Jouberin | ||
| NPHP1/JBTS4 (2q13) | Nephrocystin-1 | ||
| CEP290/JBTS5 (12q21.32) | CEP290 | ||
| TMEM67/JBTS6 (8q22.1) | Meckelin | ||
| RPGRIP1L/JBTS7 (16q12.2) | RPGRIP1L | ||
| ARL13B/JBTS8 (3q11.1) | ARL13B | ||
| CC2D2A/JBTS9 (4p15.32) | CC2D2A | ||
| OFD1/JBTS10 (Xp22.2) | OFD1 | ||
| KIF7 (15q26.1) | KIF7 | ||
| TCTN2 (12q24.31) | Tectonic 2 | ||
| ATXN10 (22q13.31) | Ataxin 10 | ||
| Meckel syndrome (MKS) | Usually, lethal disorder with occipital meningoencephalocele, cystic kidneys, DPM, polydactyly, shortening and bowing of long tubular bones, congenital heart defects, microphthalmia, and cleft lip/palate | MKS1 (17q22) | MKS1 |
| TMEM216/MKS2 (11q13) | TMEM216 | ||
| TMEM67/MKS3 (8q22.1) | Meckelin | ||
| CEP290/MKS4 (12q21.32) | CEP290 | ||
| RPGRIP1L/MKS5 (16q12.2) | RPGRIP1L | ||
| CC2D2A/MKS6 (4p15.32) | CC2D2A | ||
| NPHP3 (3q22.1) | Nephrocystin-3 | ||
| TCTN2/MKS8 (12q24.31) | Tectonic 2 | ||
| B9D1 (17p11.2) | B9D1 | ||
| B9D2 (19q13.2) | B9D2 | ||
| Orofaciodigital syndrome 1 (OFD1) | X-linked dominant condition with embryonic male lethality. Malformations of oral cavity/teeth, face, and digits frequently associated with CNS abnormalities and cystic kidney disease (often PKD phenotype) | OFD1 (Xp22.2) | OFD1 |
| Short rib-polydactyly syndromes (incl. Jeune syndrome/asphyxiating thoracic dystrophy, ATD) | Severely constricted thoracic cage with short ribs often leading to respiratory insufficiency. Further skeletal findings include polydactyly, short long bones, trident acetabular roof. Diverse multisystem organ abnormalities (cystic kidneys, DPM, etc.) | IFT80 (3q25.33) | IFT80/WDR56 |
| DYNC2H1 (11q22.3) | DYNC2H1 | ||
| NEK1 (4q33) | NEK1 | ||
| TTC21B (2q24.3) | IFT139/THM1 | ||
| Ellis-van Creveld syndrome (EVC) | Chondroectodermal dysplasia with disproportionate short stature, acromesomelic shortening of limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth with oral frenulae, congenital heart defects | EVC (4p16.2) | EVC |
| Milder allelic dominant disorder: Weyers acrodental dysostosis | EVC2 (4p16.2) | EVC2 | |
| Cranioectodermal dysplasia (CED/Sensenbrenner syndrome) | Rhizomelic dwarfism, dolichocephaly, ectodermal defects (sparse slowly growing hair, dental and nail hypo-/dysplasia), progressive tubulointerstitial nephropathy, DPM | IFT122 (3q21.3) | IFT122/WDR10 |
| WDR35 (2p24.1) | IFT121/WDR35 | ||
| C14orf179 (14q24.3) | IFT43 |
Most ciliopathies are primarily inherited in an autosomal recessive manner (or sometimes in an oligogenic way)
DPM ductal plate malformation, PKD polycystic kidney disease