Details of Disease

General Information of Disease (ID: DIS10G4I)

Disease Name Ciliopathy
Synonyms ciliopathies; ciliopathy
Definition A genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary function.
Disease Hierarchy
DISYKSRF: Genetic disease
DISWD40R: Disease
DIS10G4I: Ciliopathy
Disease Identifiers
MONDO ID
MONDO_0005308
MESH ID
D000072661
UMLS CUI
C4277690
MedGen ID
908923
Orphanet ID
363250

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 123 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TULP3 OT87CYMW Strong Autosomal recessive [1]
WDR19 OTP5X5WA Definitive Autosomal recessive [1]
ADAMTS9 OTV3Q0DS Limited Autosomal recessive [1]
AHI1 OT8K2YWY Limited Genetic Variation [18]
ARL13B OT9PYPV1 Limited Biomarker [19]
CCDC28B OT1HFHN2 Limited Biomarker [20]
CPLANE1 OTXGGNNB Limited Biomarker [21]
CRB1 OTXYUNG0 Limited Genetic Variation [22]
DLG5 OTU9Z17K Limited Autosomal dominant [23]
DNAJB11 OTDDK2SY Limited Autosomal recessive [1]
IFT81 OTB23T17 Limited Autosomal recessive [24]
IQCB1 OTYQ28V9 Limited Genetic Variation [25]
LCA5 OTQTCUWS Limited Genetic Variation [26]
MKKS OTLF5T11 Limited Genetic Variation [27]
MKS1 OT83W5PB Limited Biomarker [28]
RPGRIP1 OTABESO9 Limited Genetic Variation [29]
SUFU OT0IRYG1 Limited Autosomal recessive [1]
TOGARAM1 OTG6CYJ0 Limited Autosomal recessive [30]
B9D2 OT5SS4P8 Moderate Autosomal recessive [1]
CBY1 OTAKMUS2 Moderate Autosomal recessive [31]
KIF3B OT0HJREB Moderate Autosomal dominant [32]
PIBF1 OTCBT1A1 Moderate Autosomal recessive [1]
SCLT1 OT2ZSSP4 moderate Genetic Variation [33]
TMEM107 OT9RMLBJ Moderate Autosomal recessive [31]
TMEM138 OTNF4CR7 Moderate Autosomal recessive [1]
ALMS1 OTW66JKS Strong Genetic Variation [34]
ARL13A OT979K7Z Strong Genetic Variation [35]
ARL2BP OT7REEDA Strong Biomarker [36]
ARMC9 OT0MZER2 Strong Genetic Variation [37]
B3GNT2 OTE69HV8 Strong Biomarker [38]
B4GAT1 OT5NH9TD Strong Biomarker [38]
BBS5 OTFWF9N1 Strong Genetic Variation [39]
BICC1 OTYRKIJ1 Strong Biomarker [40]
C2CD3 OTC52E7V Strong Genetic Variation [41]
CDK10 OTKP7TTR Strong Genetic Variation [42]
CENPF OT7AG0SW Strong Genetic Variation [43]
CEP104 OTOLRJLH Strong Genetic Variation [44]
CEP19 OTL2WXOR Strong Genetic Variation [5]
CEP350 OT5Q3AEA Strong Biomarker [5]
CEP55 OTGSG2PA Strong Biomarker [45]
CEP72 OTVYNPNL Strong Biomarker [46]
CETN2 OTJTTGS0 Strong Biomarker [47]
CFAP410 OTJ94J99 Strong Genetic Variation [48]
CHTOP OTMMNZ65 Strong Biomarker [5]
CILK1 OTWOYEYP Strong Genetic Variation [49]
CPLANE2 OTUQO14U Strong Genetic Variation [50]
CRB2 OTG0L2CE Strong Biomarker [51]
CSPP1 OTNX7GD4 Strong Genetic Variation [52]
DNAAF4 OTVDYBJE Strong Genetic Variation [53]
DYNC2H1 OTLC8K6B Strong Genetic Variation [54]
E2F4 OTB3JFH4 Strong Biomarker [55]
EVC2 OTY0M5SD Strong Biomarker [56]
FAM149B1 OTUBPEJ6 Strong Biomarker [57]
FAM161A OTF5ZRYJ Strong Biomarker [58]
FOXJ1 OT7LLBZ7 Strong Genetic Variation [59]
GAS8 OT8KT2AK Strong Biomarker [60]
GLIS2 OTOUUV1X Strong Altered Expression [61]
IFT140 OT6KO5FH Strong Biomarker [62]
IFT172 OT12DW08 Strong Biomarker [63]
IFT20 OTKJS2BZ Strong Biomarker [64]
IFT27 OT3NY6O6 Strong Biomarker [65]
IFT52 OTFIVV9A Strong Genetic Variation [66]
IFT57 OTXYC20V Strong Biomarker [67]
IFT80 OTMH0MBI Strong Genetic Variation [68]
IFT88 OTDR3VBD Strong Genetic Variation [69]
INPP5E OTJF2AZ9 Strong Biomarker [70]
INVS OT8KPESR Strong Biomarker [71]
KIAA0586 OTOZRC1U Strong Genetic Variation [41]
KIAA0753 OTMFT2I9 Strong Genetic Variation [72]
KIF14 OTXHT4JM Strong Genetic Variation [73]
KIF7 OT1J6NAW Strong Biomarker [74]
KPNA3 OTLI3TM2 Strong Genetic Variation [75]
LRRC56 OTDXNK54 Strong Biomarker [76]
MAK OTEU2G41 Strong Genetic Variation [77]
MCIDAS OTK1JVAH Strong Altered Expression [78]
MICAL3 OTD229X7 Strong Genetic Variation [79]
NINL OTWIK6HT Strong Biomarker [79]
NME3 OT0CA0GF Strong Biomarker [80]
NPHP1 OTZHCFFQ Strong Biomarker [81]
NPHP3 OT8U8ELA Strong Genetic Variation [82]
NPHP4 OTBNOA7U Strong Biomarker [83]
PCM1 OTFM133C Strong Biomarker [46]
PCNT OTW4Z65J Strong Genetic Variation [84]
PCP4 OTM1XXYX Strong Biomarker [85]
PDE6D OTIFVXWD Strong Biomarker [86]
PIK3R4 OTRL8QP8 Strong Genetic Variation [64]
PKHD1 OTAH8SMF Strong Biomarker [87]
POC1A OTXAG4PL Strong Genetic Variation [88]
POC1B OTDIMIRZ Strong Biomarker [89]
RAB23 OTBAKFBR Strong Biomarker [19]
RAB8A OTPB54Y3 Strong Biomarker [79]
RCOR1 OTREADPC Strong Biomarker [90]
RFX3 OTE0EI8Z Strong Biomarker [91]
RPGRIP1L OT6Z069I Strong Biomarker [92]
SDCCAG8 OTV2ZGV9 Strong Genetic Variation [93]
TAPT1 OT3Z51KH Strong Genetic Variation [94]
TCTN2 OTKR3I3L Strong Biomarker [95]
TMEM216 OT1LOKOI Strong Genetic Variation [96]
TMEM237 OTQEVL7L Strong Biomarker [97]
TRIM32 OTJOV0PG Strong Biomarker [61]
TRRAP OT68OI2Y Strong Biomarker [78]
TTC21B OTXXA87U Strong Genetic Variation [98]
B9D1 OTWTXO75 Definitive Autosomal recessive [1]
BBS1 OTXSXB1K Definitive Autosomal recessive [1]
BBS10 OTL1TTWX Definitive Autosomal recessive [1]
BBS12 OT43DTAV Definitive Autosomal recessive [1]
BBS2 OTPF9JIB Definitive Autosomal recessive [1]
BBS4 OT0D3JC0 Definitive Autosomal recessive [1]
BBS7 OTELYWDQ Definitive Autosomal recessive [1]
BBS9 OT23V9YF Definitive Autosomal recessive [1]
CC2D2A OTFGRGFR Definitive Autosomal recessive [1]
CEP120 OT1ZMRHL Definitive Genetic Variation [41]
CEP164 OTLNRPAR Definitive Autosomal recessive [1]
DCDC2 OTSUFH1H Definitive Autosomal recessive [1]
IFT122 OTSK3OAD Definitive Genetic Variation [99]
KATNIP OTLLA1BX Definitive Autosomal recessive [1]
LZTFL1 OTIEIOEW Definitive Autosomal recessive [1]
OFD1 OTAZW5TK Definitive X-linked [1]
TBC1D32 OTR5NU7K Definitive Autosomal recessive [100]
TCTN3 OTZSHERV Definitive Autosomal recessive [1]
TMEM231 OTF4UYIE Definitive Autosomal recessive [1]
TMEM67 OTME92T5 Definitive Autosomal recessive [1]
TRAF3IP1 OTLCC64B Definitive Biomarker [101]
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⏷ Show the Full List of 123 DOT(s)
This Disease Is Related to 15 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
NEK1 TTO5QT2 Limited Genetic Variation [2]
NEK8 TT8AH9I Limited Biomarker [3]
USH2A TTVCLLA Limited Biomarker [4]
ACVR1 TTJNBQA Strong Biomarker [5]
AGXT TTF5NVW Strong Biomarker [6]
CEP290 TT3XBOV Strong Genetic Variation [7]
FGF8 TTIUF3J Strong Biomarker [8]
KIF11 TTBGTCW Strong Biomarker [9]
PPT1 TTSQC14 Strong Biomarker [10]
PRKD1 TTSLUMT Strong Biomarker [11]
RHO TTH0KSX Strong Biomarker [12]
RPGR TTHBDA9 Strong Altered Expression [13]
USP8 TT1J07C Strong Biomarker [14]
WDR5 TT7OFWB Strong Biomarker [15]
NEK9 TTM57AW Definitive Genetic Variation [16]
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⏷ Show the Full List of 15 DTT(s)
This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC41A1 DTB37ZE Strong Genetic Variation [17]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.J Hum Genet. 2017 Apr;62(4):503-506. doi: 10.1038/jhg.2016.157. Epub 2017 Jan 26.
3 Nek8 couples renal ciliopathies to DNA damage and checkpoint control.Mol Cell. 2013 Aug 22;51(4):407-8. doi: 10.1016/j.molcel.2013.08.013.
4 Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.Hum Mol Genet. 2009 Jan 1;18(1):51-64. doi: 10.1093/hmg/ddn312. Epub 2008 Sep 30.
5 CEP19 cooperates with FOP and CEP350 to drive early steps in the ciliogenesis programme.Open Biol. 2017 Jun;7(6):170114. doi: 10.1098/rsob.170114.
6 Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies.Kidney Int. 2014 Apr;85(4):880-7. doi: 10.1038/ki.2013.450. Epub 2013 Nov 20.
7 Ciliary genes arl13b, ahi1 and cc2d2a differentially modify expression of visual acuity phenotypes but do not enhance retinal degeneration due to mutation of cep290 in zebrafish.PLoS One. 2019 Apr 10;14(4):e0213960. doi: 10.1371/journal.pone.0213960. eCollection 2019.
8 Perspectives on asymmetry: the Erickson Lecture.Am J Med Genet A. 2012 Dec;158A(12):2981-98. doi: 10.1002/ajmg.a.34348. Epub 2012 Nov 6.
9 Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.Invest Ophthalmol Vis Sci. 2017 Aug 1;58(10):3950-3959. doi: 10.1167/iovs.17-21679.
10 Proteomics insights into infantile neuronal ceroid lipofuscinosis (CLN1) point to the involvement of cilia pathology in the disease.Hum Mol Genet. 2017 May 1;26(9):1678. doi: 10.1093/hmg/ddx074.
11 Synergistic Genetic Interactions between Pkhd1 and Pkd1 Result in an ARPKD-Like Phenotype in Murine Models.J Am Soc Nephrol. 2019 Nov;30(11):2113-2127. doi: 10.1681/ASN.2019020150. Epub 2019 Aug 19.
12 Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies.JCI Insight. 2019 Nov 14;4(22):e130516. doi: 10.1172/jci.insight.130516.
13 RPGR protein complex regulates proteasome activity and mediates store-operated calcium entry.Oncotarget. 2018 May 1;9(33):23183-23197. doi: 10.18632/oncotarget.25259. eCollection 2018 May 1.
14 EGF receptor kinase suppresses ciliogenesis through activation of USP8 deubiquitinase.Nat Commun. 2018 Feb 22;9(1):758. doi: 10.1038/s41467-018-03117-y.
15 WDR5 regulates left-right patterning via chromatin-dependent and -independent functions.Development. 2018 Nov 28;145(23):dev159889. doi: 10.1242/dev.159889.
16 Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects. Hum Mol Genet. 2016 May 1;25(9):1824-35. doi: 10.1093/hmg/ddw054. Epub 2016 Feb 21.
17 Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. J Am Soc Nephrol. 2013 May;24(6):967-77. doi: 10.1681/ASN.2012101034. Epub 2013 May 9.
18 Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration.J Cell Sci. 2019 Sep 4;132(17):jcs230680. doi: 10.1242/jcs.230680.
19 Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies.Curr Opin Genet Dev. 2019 Jun;56:61-68. doi: 10.1016/j.gde.2019.07.009. Epub 2019 Aug 27.
20 Characterization of CCDC28B reveals its role in ciliogenesis and provides insight to understand its modifier effect on Bardet-Biedl syndrome.Hum Genet. 2013 Jan;132(1):91-105. doi: 10.1007/s00439-012-1228-5. Epub 2012 Sep 27.
21 Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis.Ann Neurol. 2019 Jul;86(1):99-115. doi: 10.1002/ana.25491. Epub 2019 May 3.
22 Whole exome sequencing as a diagnostic tool for patients with ciliopathy-like phenotypes.PLoS One. 2017 Aug 11;12(8):e0183081. doi: 10.1371/journal.pone.0183081. eCollection 2017.
23 DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes. J Med Genet. 2021 Jul;58(7):453-464. doi: 10.1136/jmedgenet-2019-106805. Epub 2020 Jul 6.
24 IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. J Med Genet. 2015 Oct;52(10):657-65. doi: 10.1136/jmedgenet-2014-102838. Epub 2015 Aug 14.
25 Rescue of cone function in cone-only Nphp5 knockout mouse model with Leber congenital amaurosis phenotype.Mol Vis. 2018 Dec 30;24:834-846. eCollection 2018.
26 Amelioration of Neurosensory Structure and Function in Animal and Cellular Models of a Congenital Blindness.Mol Ther. 2018 Jun 6;26(6):1581-1593. doi: 10.1016/j.ymthe.2018.03.015. Epub 2018 Mar 21.
27 Functional analysis of new human Bardet-Biedl syndrome loci specific variants in the zebrafish model.Sci Rep. 2019 Sep 10;9(1):12936. doi: 10.1038/s41598-019-49217-7.
28 Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.Am J Med Genet A. 2016 Dec;170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29.
29 The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.Hum Mol Genet. 2011 Sep 15;20(18):3592-605. doi: 10.1093/hmg/ddr280. Epub 2011 Jun 17.
30 Biallelic mutations in the TOGARAM1 gene cause a novel primary ciliopathy. J Med Genet. 2021 Aug;58(8):526-533. doi: 10.1136/jmedgenet-2020-106833. Epub 2020 Aug 3.
31 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
32 Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. Am J Hum Genet. 2020 Jun 4;106(6):893-904. doi: 10.1016/j.ajhg.2020.04.005. Epub 2020 May 7.
33 Compound heterozygous splice site variants in the SCLT1 gene highlight an additional candidate locus for Senior-Lken syndrome.Sci Rep. 2018 Nov 13;8(1):16733. doi: 10.1038/s41598-018-35152-6.
34 Phenotypic and mutational spectrum of 21 Chinese patients with Alstrm syndrome.Am J Med Genet A. 2020 Feb;182(2):279-288. doi: 10.1002/ajmg.a.61412. Epub 2019 Nov 22.
35 Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.PLoS Genet. 2013;9(12):e1003977. doi: 10.1371/journal.pgen.1003977. Epub 2013 Dec 5.
36 Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.PLoS Genet. 2019 Aug 19;15(8):e1008315. doi: 10.1371/journal.pgen.1008315. eCollection 2019 Aug.
37 Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly.Am J Med Genet A. 2018 Jan;176(1):34-40. doi: 10.1002/ajmg.a.38537. Epub 2017 Nov 21.
38 Accelerating Gene Discovery by Phenotyping Whole-Genome Sequenced Multi-mutation Strains and Using the Sequence Kernel Association Test (SKAT).PLoS Genet. 2016 Aug 10;12(8):e1006235. doi: 10.1371/journal.pgen.1006235. eCollection 2016 Aug.
39 BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan.Ann Hum Genet. 2019 Nov;83(6):477-482. doi: 10.1111/ahg.12336. Epub 2019 Jun 7.
40 Crystal Structure of Bicc1 SAM Polymer and Mapping of Interactions between the Ciliopathy-Associated Proteins Bicc1, ANKS3, and ANKS6.Structure. 2018 Feb 6;26(2):209-224.e6. doi: 10.1016/j.str.2017.12.002. Epub 2017 Dec 28.
41 CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis.Sci Rep. 2019 Apr 15;9(1):6037. doi: 10.1038/s41598-019-42577-0.
42 A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.Am J Med Genet A. 2018 Jan;176(1):92-98. doi: 10.1002/ajmg.a.38506. Epub 2017 Nov 12.
43 CUGC for Stromme syndrome and CENPF-related disorders.Eur J Hum Genet. 2020 Jan;28(1):132-136. doi: 10.1038/s41431-019-0498-y. Epub 2019 Sep 5.
44 A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.Cell Rep. 2019 Aug 13;28(7):1907-1922.e6. doi: 10.1016/j.celrep.2019.07.025.
45 A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Clin Genet. 2017 Nov;92(5):510-516. doi: 10.1111/cge.13012. Epub 2017 May 3.
46 The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.Mol Biol Cell. 2012 Sep;23(17):3322-35. doi: 10.1091/mbc.E12-02-0134. Epub 2012 Jul 5.
47 Centrin 2 is required for mouse olfactory ciliary trafficking and development of ependymal cilia planar polarity.J Neurosci. 2014 Apr 30;34(18):6377-88. doi: 10.1523/JNEUROSCI.0067-14.2014.
48 C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium.Br J Ophthalmol. 2015 Dec;99(12):1725-31. doi: 10.1136/bjophthalmol-2015-307277. Epub 2015 Aug 20.
49 Ciliogenesis associated kinase 1: targets and functions in various organ systems.FEBS Lett. 2019 Nov;593(21):2990-3002. doi: 10.1002/1873-3468.13600. Epub 2019 Sep 20.
50 Hexa-Longin domain scaffolds for inter-Rab signalling.Bioinformatics. 2020 Feb 15;36(4):990-993. doi: 10.1093/bioinformatics/btz739.
51 Expansion of phenotype and genotypic data in CRB2-related syndrome.Eur J Hum Genet. 2016 Oct;24(10):1436-44. doi: 10.1038/ejhg.2016.24. Epub 2016 Mar 23.
52 Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.Am J Hum Genet. 2014 Jan 2;94(1):73-9. doi: 10.1016/j.ajhg.2013.11.010. Epub 2013 Dec 19.
53 Ciliary dyslexia candidate genes DYX1C1 and DCDC2 are regulated by Regulatory Factor X (RFX) transcription factors through X-box promoter motifs.FASEB J. 2016 Oct;30(10):3578-3587. doi: 10.1096/fj.201500124RR. Epub 2016 Jul 22.
54 DYNC2H1 mutation causes Jeune syndrome and recurrent lung infections associated with ciliopathy.Clin Respir J. 2018 Mar;12(3):1017-1020. doi: 10.1111/crj.12620. Epub 2017 Mar 12.
55 Cytoplasmic E2f4 forms organizing centres for initiation of centriole amplification during multiciliogenesis.Nat Commun. 2017 Jul 4;8:15857. doi: 10.1038/ncomms15857.
56 Elevated Fibroblast Growth Factor Signaling Is Critical for the Pathogenesis of the Dwarfism in Evc2/Limbin Mutant Mice.PLoS Genet. 2016 Dec 27;12(12):e1006510. doi: 10.1371/journal.pgen.1006510. eCollection 2016 Dec.
57 Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. Am J Hum Genet. 2019 Apr 4;104(4):731-737. doi: 10.1016/j.ajhg.2019.02.018. Epub 2019 Mar 21.
58 FAM161A, associated with retinitis pigmentosa, is a component of the cilia-basal body complex and interacts with proteins involved in ciliopathies.Hum Mol Genet. 2012 Dec 1;21(23):5174-84. doi: 10.1093/hmg/dds368. Epub 2012 Sep 1.
59 Identification of Important Effector Proteins in the FOXJ1 Transcriptional Network Associated With Ciliogenesis and Ciliary Function.Front Genet. 2019 Mar 1;10:23. doi: 10.3389/fgene.2019.00023. eCollection 2019.
60 DRC2/CCDC65 is a central hub for assembly of the nexin-dynein regulatory complex and other regulators of ciliary and flagellar motility.Mol Biol Cell. 2018 Jan 15;29(2):137-153. doi: 10.1091/mbc.E17-08-0510. Epub 2017 Nov 22.
61 Interaction with the Bardet-Biedl gene product TRIM32/BBS11 modifies the half-life and localization of Glis2/NPHP7.J Biol Chem. 2014 Mar 21;289(12):8390-401. doi: 10.1074/jbc.M113.534024. Epub 2014 Feb 5.
62 Novel IFT140 variants cause spermatogenic dysfunction in humans.Mol Genet Genomic Med. 2019 Sep;7(9):e920. doi: 10.1002/mgg3.920. Epub 2019 Aug 8.
63 Ift172 conditional knock-out mice exhibit rapid retinal degeneration and protein trafficking defects.Hum Mol Genet. 2018 Jun 1;27(11):2012-2024. doi: 10.1093/hmg/ddy109.
64 A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.Nat Commun. 2016 Nov 24;7:13586. doi: 10.1038/ncomms13586.
65 Ift25 is not a cystic kidney disease gene but is required for early steps of kidney development.Mech Dev. 2018 Jun;151:10-17. doi: 10.1016/j.mod.2018.04.001. Epub 2018 Apr 4.
66 IFT52 as a Novel Candidate for Ciliopathies Involving Retinal Degeneration.Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4581-4589. doi: 10.1167/iovs.17-23351.
67 Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia.Clin Genet. 2016 Dec;90(6):509-517. doi: 10.1111/cge.12785. Epub 2016 Apr 29.
68 Mutations in IFT80 cause SRPS Type IV. Report of two families and review. Am J Med Genet A. 2019 Apr;179(4):639-644. doi: 10.1002/ajmg.a.61050. Epub 2019 Feb 14.
69 Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.Nat Med. 2012 Sep;18(9):1423-8. doi: 10.1038/nm.2860.
70 Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection.Cell Rep. 2019 Dec 17;29(12):4010-4023.e5. doi: 10.1016/j.celrep.2019.11.072.
71 Congenital Heart Defects and Ciliopathies Associated With Renal Phenotypes.Front Pediatr. 2018 Jun 15;6:175. doi: 10.3389/fped.2018.00175. eCollection 2018.
72 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies.Sci Rep. 2017 Nov 14;7(1):15585. doi: 10.1038/s41598-017-15442-1.
73 Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype. Clin Genet. 2014 Sep;86(3):220-8. doi: 10.1111/cge.12301. Epub 2013 Nov 18.
74 Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.Hum Mol Genet. 2019 Mar 15;28(6):877-887. doi: 10.1093/hmg/ddy392.
75 Beemer-Langer syndrome is a ciliopathy due to biallelic mutations in IFT122.Am J Med Genet A. 2017 May;173(5):1186-1189. doi: 10.1002/ajmg.a.38157. Epub 2017 Mar 28.
76 Biallelic Mutations in LRRC56, Encoding a Protein Associated with Intraflagellar Transport, Cause Mucociliary Clearance and Laterality Defects. Am J Hum Genet. 2018 Nov 1;103(5):727-739. doi: 10.1016/j.ajhg.2018.10.003.
77 Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.Ophthalmic Genet. 2018 Aug;39(4):508-511. doi: 10.1080/13816810.2018.1474369. Epub 2018 May 21.
78 TRRAP is a central regulator of human multiciliated cell formation.J Cell Biol. 2018 Jun 4;217(6):1941-1955. doi: 10.1083/jcb.201706106. Epub 2018 Mar 27.
79 The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking.PLoS Genet. 2015 Oct 20;11(10):e1005575. doi: 10.1371/journal.pgen.1005575. eCollection 2015 Oct.
80 The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal development.J Biol Chem. 2018 Sep 28;293(39):15243-15255. doi: 10.1074/jbc.RA117.000847. Epub 2018 Aug 15.
81 Recurrent CNVs and SNVs at the NPHP1 locus contribute pathogenic alleles to Bardet-Biedl syndrome. Am J Hum Genet. 2014 May 1;94(5):745-54. doi: 10.1016/j.ajhg.2014.03.017. Epub 2014 Apr 17.
82 Homozygous mutation in the NPHP3 gene causing foetal nephronophthisis.Nephrology (Carlton). 2017 Oct;22(10):818-820. doi: 10.1111/nep.13097.
83 The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007 Jul;39(7):875-81. doi: 10.1038/ng2039. Epub 2007 Jun 10.
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