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Table 1 Ciliopathies, genes and subcellular functions of the proteins

From: A systems-biology approach to understanding the ciliopathy disorders

Disorders Symptoms Inheritance Causative genes Putative protein functions
Primary ciliary dyskinesia (PCD)/Kartagener syndrome (KS) Chronic sinusitis, bronchiectasis and infertility with situs inversus (KS only) and occasional hydrocephalus (PCD) Autosomal recessive DNAH5 Cilia motility
    DNAH11 Cilia motility
    DNAl1 Cilia motility
    DNAl2 Cilia motility
    TXNDC3 Unknown
    KTU Dynein arm preassembly, Cilia motility
    RSPH9 Central pair/motility
    RSPH4A Central pair/motility
    LRRC50 Cilia motility
Leber congenital amaurosis (LCA) Retinal dystrophy, blindness or severe visual impairment such as sensory nystagmus, amaurotic pupils and absent electroretinogram signal Autosomal recessive CEP290;NPHP6* RPGR complex, trafficking
    LCA5 RPGR complex, trafficking
    TULP1 Rhodopsin trafficking
    RPGRIP1 RPGR complex
Polycystic kidney disease (PKD): dominant (ADPKD), recessive (ARPKD) Hepatic cysts, pancreatic cysts (10%), cysts in the nephron (ADPKD only) and hepatic fibrosis, cysts in collecting ducts (ARPKD only) Autosomal dominant, Autosomal recessive PKD1 Mechanosensation, cell-cell or cell-matrix interactions
    PKD2 Probable calcium channel protein
    PKHD1 Probable receptor protein, PC2 modulation
Jeune asphyxiating thoracic dystrophy (JATD) Postaxial polydactyly, short limbs, short and slender ribs, small ilia, irregular acetabulum and cystic kidney Autosomal recessive ATD1 Role in Shh signaling
Ellis-van Creveld syndrome (EVC) Polydactyly, short ribs, dysplastic fingernails/teeth and cardiac defects Autosomal recessive EVC1 Unknown
    EVC2 Unknown
Oral-facial-digital syndrome type I (OFD1) Craniofacial malformations, postaxial polydactyly, central nervous system defects and cystic kidney (~15%) X-linked dominant OFD1* Ciliogenesis, Wnt/PCP signaling, association with LCA5 and SDCCAG8
Nephronophthisis (NPHP) Triad of tubular basement membrane disruption, tubulointerstitial nephropathy, corticomedullary cysts. Pancreatic/hepatic fibrosis, situs inversus, retinitis pigmentosa, cerebellar vermis hypoplasia, oculomotor apraxia and mental retardation (~10%) Autosomal recessive NPHP1 * Cilia structure, cell-cell adhesion
    NPHP2;INVS Wnt/PCP, cell cycle control
    NPHP3 Wnt/PCP pathway
    NPHP4 Cilia structure, IFT
    NPHP5;IQCB1 RPGR/Calmodulin complex
    NPHP6;CEP290* RPGR complex, trafficking
    NPHP7;CLIS2 Transcription factor, Wnt
    NPHP8;RPGRIP1L* Shh signaling
    NPHP9;NEK8 Modulation of PC1 and PC2
    NPHP10;SDCCAG8 Association with OFD1
    NPHP11;TMEM67* Ciliogenesis
    NPHPL1;XPNPEP3 Unknown
Joubert syndrome (JBTS)/JBTS-related disorder (JSRD) Hypotonia, ataxia, psychomotor delay, oculomotor apraxia, retinal degeneration and mental retardation. Occipital encephalocele, polymicrogyria, cystic kidney, hepatic fibrosis and polydactyly (JSRD) Autosomal recessive JBTS1;INPP5E Cilia stability, phosphatidylinositol signaling
    JBTS2;TMEM216* Ciliogenesis, centrosomal docking, PCP signaling
    JBTS3;AHI1 Wnt signaling
    JBTS4;NPHP1* Cilia structure, cell-cell adhesion
    JBTS5;CEP290* RPGR complex, trafficking
    JBTS6;TMEM67* Ciliogenesis
    JBTS7;RPGRIP1L* Shh signaling
    JBTS8;ARL13B Cilia structure, IFT
    JBTS9;CC2D2A* Association with CEP290
    JBTS10;OFD1* Ciliogenesis, Wnt/PCP, association with LCA5 and SDCCAG8
    JBTS11;TTC21B Ciliogenesis
    JBTS12;KIF7 Shh signaling, microtubule dynamics
    JBTS13;TCTN1 Transition zone complex regulation
Bardet-Biedl syndrome (BBS) Obesity, diabetes, polydactyly, mental retardation, cystic kidney, retinitis pigmentosa, hypogenitalism and situs inversus Autosomal recessive BBS1 BBSome, Wnt/PCP, IFT/trafficking
    BBS2 BBSome, IFT/trafficking
    BBS3;ARL6 Vesicle trafficking
    BBS4 BBSome, IFT/trafficking, microtubule anchoring, cell cycle control
    BBS5 BBSome, IFT/trafficking, ciliogenesis
    BBS6;MKKS IFT/trafficking, Wnt/PCP, cytokinesis, chaperonin
    BBS7 BBSome, IFT/trafficking
    BBS8;TTC8 BBSome, IFT/trafficking
    BBS9;PTHB1 BBSome
    BBS10 Ciliogenesis, Wnt, chaperonin
    BBS11;TRIM32 E3 ubiquitin-protein ligase
    BBS12 Ciliogenesis, Wnt, chaperonin
Alström syndrome (ALMS) Cone-rod retinal dystrophy, hearing defects, cardiomyopathy, early-onset obesity, renal failure and hepatic dysfunction Autosomal recessive ALMS1 Cilia maintenance
Meckel-Gruber syndrome (MKS) Renal cysts, hepatic fibrosis, central nervous system malformations, polydactyly, liver malformations, laterality defects, cardiac defects Autosomal recessive MKS1 Ciliogenesis
    MKS2;TMEM216* Ciliogenesis, centrosomal docking, PCP signaling
    MKS3;TMEM67* Ciliogenesis
    MKS4;CEP290* RPGR complex, trafficking
    MKS5;RPGRIP1L* Shh signaling
    MKS6;CC2D2A* Association with CEP290
  1. Disorders are described in the order of increasing phenotypic severity. Asterisks indicate genes causing allelic disorders. Semicolons indicate two different names of the same gene. RPGR, retinitis pigmentosa GTPase regulator.