Aliases & Classifications for Ciliopathy

MalaCards integrated aliases for Ciliopathy:

Name: Ciliopathy 59 6 17

Classifications:



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Orphanet 59 ORPHA363250

Summaries for Ciliopathy

MalaCards based summary : Ciliopathy is related to short-rib thoracic dysplasia 12 and short-rib thoracic dysplasia 1 with or without polydactyly. An important gene associated with Ciliopathy is TTC21B (Tetratricopeptide Repeat Domain 21B), and among its related pathways/superpathways are Regulation of PLK1 Activity at G2/M Transition and Signaling by Hedgehog. The drugs Nitric Oxide and Ethanol have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and brain, and related phenotypes are cellular and cardiovascular system

Wikipedia : 75 A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal... more...

Related Diseases for Ciliopathy

Diseases related to Ciliopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 290)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 12 32.9 WDR19 TTC21B
2 short-rib thoracic dysplasia 1 with or without polydactyly 32.4 WDR19 TTC21B IFT140 DYNC2LI1
3 cranioectodermal dysplasia 1 32.4 WDR19 TTC21B IFT52 IFT140
4 asphyxiating thoracic dystrophy 32.3 WDR19 TTC21B KIAA0586 IFT140
5 short-rib thoracic dysplasia 3 with or without polydactyly 32.2 WDR19 TTC21B DYNC2LI1
6 bardet-biedl syndrome 1 32.1 KIF7 BBS7 BBS1
7 bardet-biedl syndrome 16 32.1 SDCCAG8 BBS1
8 bardet-biedl syndrome 14 32.1 TMEM67 BBS1
9 meckel syndrome, type 1 31.5 TTC21B TMEM67 RPGRIP1L NPHP4 BBS1
10 bardet-biedl syndrome 17 31.3 BBS7 BBS1
11 nephronophthisis 31.2 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
12 congenital hepatic fibrosis 31.1 TMEM67 RPGRIP1L
13 bardet-biedl syndrome 13 31.1 TTC21B TMEM67 SDCCAG8 RPGRIP1L BBS1
14 meckel syndrome, type 3 30.9 TMEM67 RPGRIP1L
15 bardet-biedl syndrome 18 30.9 BBS7 BBS1
16 juvenile nephronophthisis 30.7 WDR19 NPHP4
17 joubert syndrome with jeune asphyxiating thoracic dystrophy 30.3 KIAA0586 IFT140
18 mckusick-kaufman syndrome 30.2 BBS7 BBS1
19 nephronophthisis 19 30.2 TMEM67 NPHP4
20 nephronophthisis 7 30.1 WDR19 BBS1
21 bardet-biedl syndrome 6 30.1 BBS7 BBS1
22 coach syndrome 30.0 TMEM67 RPGRIP1L
23 renal dysplasia 29.8 SDCCAG8 NPHP4 IFT140
24 joubert syndrome 1 29.8 TTC21B TMEM67 RPGRIP1L NPHP4 KIF7 KIAA0586
25 ellis-van creveld syndrome 29.8 WDR19 TTC21B IFT81 DYNC2LI1
26 bardet-biedl syndrome 29.7 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 KIF7
27 nephronophthisis 14 29.6 NPHP4 C2CD3
28 retinitis pigmentosa 29.5 WDR19 SDCCAG8 RPGRIP1L NPHP4 IFT140 BBS1
29 nephronophthisis 11 29.4 TMEM67 SDCCAG8 RPGRIP1L NPHP4
30 senior-loken syndrome 1 29.3 WDR19 TTC21B TMEM67 SDCCAG8 NPHP4 IFT140
31 polydactyly 29.1 TTC21B KIAA0586 IFT81 IFT52 DYNC2LI1 BBS7
32 meckel syndrome, type 6 28.9 TMEM67 RPGRIP1L NPHP4 C2CD3
33 retinal ciliopathy 12.3
34 retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 12.3
35 nephropathy-associated ciliopathy 12.2
36 retinal ciliopathy due to mutation in nephronophthisis gene 12.2
37 retinal ciliopathy due to mutation in bardet-biedl gene 12.2
38 retinal ciliopathy due to mutation in the rpgr gene 12.2
39 retinal ciliopathy due to mutation in the rpgrip gene 12.2
40 retinal ciliopathy due to mutation in usher gene 12.2
41 short-rib thoracic dysplasia 17 with or without polydactyly 11.8
42 stromme syndrome 11.6
43 short-rib thoracic dysplasia 7 with or without polydactyly 11.6
44 short-rib thoracic dysplasia 4 with or without polydactyly 11.5
45 short-rib thoracic dysplasia 9 with or without polydactyly 11.5
46 short-rib thoracic dysplasia 10 with or without polydactyly 11.5
47 short-rib thoracic dysplasia 5 with or without polydactyly 11.5
48 bardet-biedl syndrome 12 11.5
49 short-rib thoracic dysplasia 14 with polydactyly 11.5
50 short-rib thoracic dysplasia 16 with or without polydactyly 11.5

Graphical network of the top 20 diseases related to Ciliopathy:



Diseases related to Ciliopathy

Symptoms & Phenotypes for Ciliopathy

MGI Mouse Phenotypes related to Ciliopathy:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 BBS1 BBS7 C2CD3 CENPF DYNC2LI1 IFT140
2 cardiovascular system MP:0005385 10.25 BBS1 BBS7 C2CD3 CENPF DYNC2LI1 IFT140
3 craniofacial MP:0005382 10.18 BBS1 BBS7 IFT140 KIAA0586 KIF7 RPGRIP1L
4 growth/size/body region MP:0005378 10.18 BBS1 BBS7 CENPF DYNC2LI1 IFT140 KIAA0586
5 embryo MP:0005380 10.13 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586 KIF7
6 limbs/digits/tail MP:0005371 10.1 BBS1 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586
7 homeostasis/metabolism MP:0005376 10.07 BBS1 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586
8 mortality/aging MP:0010768 10.07 BBS1 BBS7 C2CD3 CENPF DYNC2LI1 IFT140
9 digestive/alimentary MP:0005381 10 BBS7 IFT140 KIF7 RPGRIP1L SDCCAG8 TMEM67
10 nervous system MP:0003631 9.97 BBS1 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586
11 renal/urinary system MP:0005367 9.56 BBS1 BBS7 IFT140 NPHP4 RPGRIP1L SDCCAG8
12 vision/eye MP:0005391 9.23 BBS1 BBS7 IFT140 KIF7 NPHP4 RPGRIP1L

Drugs & Therapeutics for Ciliopathy

Drugs for Ciliopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitric Oxide Approved 10102-43-9 145068
2
Ethanol Approved 64-17-5 702
3 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 COPD Metabolome, Smoking Oxidants and Aberrant Ciliated Cell Function Recruiting NCT01974154
2 Clinical and Molecular Investigations Into Ciliopathies Recruiting NCT00068224
3 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Recruiting NCT03802708
4 Generation of Induced Pluripotent Stem (iPS) Cell Lines From Somatic Cells of Participants With Eye Diseases and From Somatic Cells of Matched Controls Recruiting NCT01432847
5 Clinical Study of a Single Ciliopathy: Alström Syndrome Terminated NCT02890550

Search NIH Clinical Center for Ciliopathy

Genetic Tests for Ciliopathy

Anatomical Context for Ciliopathy

MalaCards organs/tissues related to Ciliopathy:

41
Kidney, Liver, Brain, Eye, Heart, Retina, Bone

Publications for Ciliopathy

Articles related to Ciliopathy:

(show top 50) (show all 689)
# Title Authors PMID Year
1
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 38 71
26275418 2015
2
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. 38
31431935 2019
3
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. 38
31079206 2019
4
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. 38
31425546 2019
5
Novel IFT140 variants cause spermatogenic dysfunction in humans. 38
31397098 2019
6
Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration. 38
31391239 2019
7
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. 38
31042281 2019
8
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa. 38
31370859 2019
9
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. 38
31095728 2019
10
Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome. 38
30924151 2019
11
TALPID3 in Joubert syndrome and related ciliopathy disorders. 38
31326647 2019
12
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. 38
31346239 2019
13
Disrupted Plasma Membrane Protein Homeostasis in a Xenopus Laevis Model of Retinitis Pigmentosa. 38
31061086 2019
14
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 38
31366608 2019
15
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. 38
31004438 2019
16
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes. 38
31220269 2019
17
Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis. 38
31277411 2019
18
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. 38
30809043 2019
19
Cell-Based Therapy Restores Olfactory Function in an Inducible Model of Hyposmia. 38
31155504 2019
20
A Novel Role for Polycystin-2 (Pkd2) in P. tetraurelia as a Probable Mg2+ Channel Necessary for Mg2+-Induced Behavior. 38
31207979 2019
21
Cilia, mitochondria, and cardiac development. 38
31205030 2019
22
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology. 38
31056860 2019
23
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 38
30723319 2019
24
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 38
31173343 2019
25
A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy. 38
31253780 2019
26
AON-Mediated Exon Skipping to Bypass Protein Truncation in Retinal Dystrophies Due to the Recurrent CEP290 c.4723A > T Mutation. Fact or Fiction? 38
31091803 2019
27
Analysis of cilia dysfunction phenotypes in zebrafish embryos depleted of Origin recognition complex factors. 38
30696958 2019
28
Vertebrate Dynein-f depends on Wdr78 for axonemal localization and is essential for ciliary beat. 38
30060180 2019
29
Partially Redundant Actin Genes in Chlamydomonas Control Transition Zone Organization and Flagellum-Directed Traffic. 38
31116988 2019
30
Membrane retrieval, recycling and release pathways that organise and sculpt the ciliary membrane. 38
31146146 2019
31
Imbalanced mitochondrial function provokes heterotaxy via aberrant ciliogenesis. 38
31094706 2019
32
Ciliopathy-associated proteins are involved in vesicle distribution in sensory cilia. 38
31176629 2019
33
Saccular Cyst and Airway Compromise in a New Born With Ciliopathy. 38
30961373 2019
34
Ciliary kinesins beyond IFT: Cilium length, disassembly, cargo transport and signalling. 38
30720881 2019
35
Defects in efferent duct multiciliogenesis underlie male infertility in GEMC1-, MCIDAS- or CCNO-deficient mice. 38
30936178 2019
36
Usher syndrome in a patient with Ellis-van Creveld syndrome. 38
30991842 2019
37
CEP120 interacts with C2CD3 and Talpid3 and is required for centriole appendage assembly and ciliogenesis. 38
30988386 2019
38
Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar Dynein function in primary cilia. 38
31009951 2019
39
Bardet-Biedl syndrome obesity: BBS4 regulates cellular ER stress in early adipogenesis. 38
30902542 2019
40
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans. 38
30905400 2019
41
The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5. 38
30931988 2019
42
Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes. 38
30614526 2019
43
Novel splicing variant c. 208+2T>C in BBS5 segregates with Bardet-Biedl syndrome in an Iranian family by targeted exome sequencing. 38
30850397 2019
44
The Ciliopathy Gene Ftm/Rpgrip1l Controls Mouse Forebrain Patterning via Region-Specific Modulation of Hedgehog/Gli Signaling. 38
30692221 2019
45
Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice. 38
30901771 2019
46
Ciliotherapy: Remote Control of Primary Cilia Movement and Function by Magnetic Nanoparticles. 38
30860808 2019
47
Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish. 38
30388224 2019
48
Personalized Nanotherapy by Specifically Targeting Cell Organelles To Improve Vascular Hypertension. 38
30582331 2019
49
Gli2 Rescues Delays in Brain Development Induced by Kif3a Dysfunction. 38
29342244 2019
50
BBS4 is required for intraflagellar transport coordination and basal body number in mammalian olfactory cilia. 38
30665891 2019

Variations for Ciliopathy

ClinVar genetic disease variations for Ciliopathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NEK4 NM_003157.6(NEK4): c.2017dup (p.Ile673fs) duplication Likely pathogenic rs770418305 3:52775503-52775503 3:52741487-52741487
2 IFT81 NM_014055.4(IFT81): c.1188+1G> A single nucleotide variant Uncertain significance rs864309657 12:110600871-110600871 12:110163066-110163066
3 IFT81 NM_014055.4(IFT81): c.2015_2019del (p.Asp672fs) deletion Uncertain significance rs864309658 12:110656015-110656019 12:110218210-110218214

Expression for Ciliopathy

Search GEO for disease gene expression data for Ciliopathy.

Pathways for Ciliopathy

GO Terms for Ciliopathy

Cellular components related to Ciliopathy according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.97 WDR19 TTC21B TMEM67 RPGRIP1L NPHP4 NEK4
2 axoneme GO:0005930 9.91 RPGRIP1L IFT140 DYNC2LI1 CENPF BBS7 BBS1
3 ciliary tip GO:0097542 9.91 WDR19 TTC21B KIF7 IFT81 IFT52 IFT140
4 motile cilium GO:0031514 9.85 WDR19 IFT81 IFT52 DYNC2LI1
5 photoreceptor connecting cilium GO:0032391 9.85 WDR19 RPGRIP1L NPHP4 IFT52 IFT140
6 centriole GO:0005814 9.84 SDCCAG8 KIAA0586 IFT52 C2CD3
7 ciliary transition zone GO:0035869 9.8 TMEM67 RPGRIP1L NPHP4 NEK4 DYNC2LI1
8 cell-cell junction GO:0005911 9.78 SDCCAG8 RPGRIP1L NPHP4
9 centrosome GO:0005813 9.77 TMEM67 SDCCAG8 RPGRIP1L NPHP4 KIAA0586 IFT81
10 photoreceptor outer segment GO:0001750 9.74 WDR19 IFT140 BBS7
11 ciliary membrane GO:0060170 9.73 TMEM67 BBS7 BBS1
12 non-motile cilium GO:0097730 9.7 WDR19 NPHP4 IFT140
13 intraciliary transport particle A GO:0030991 9.67 WDR19 TTC21B IFT140
14 ciliary base GO:0097546 9.61 NPHP4 IFT52
15 centriolar satellite GO:0034451 9.6 SDCCAG8 C2CD3
16 intraciliary transport particle B GO:0030992 9.59 IFT81 IFT52
17 ciliary rootlet GO:0035253 9.58 RPGRIP1L NEK4
18 BBSome GO:0034464 9.58 BBS7 BBS1
19 cell projection GO:0042995 9.5 WDR19 TTC21B TMEM67 RPGRIP1L NPHP4 NEK4
20 cytoplasm GO:0005737 10.39 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
21 cytoskeleton GO:0005856 10.17 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
22 ciliary basal body GO:0036064 10.03 RPGRIP1L NPHP4 NEK4 KIF7 KIAA0586 IFT81
23 microtubule organizing center GO:0005815 10.02 RPGRIP1L NPHP4 KIAA0586 IFT140 DYNC2LI1 BBS7

Biological processes related to Ciliopathy according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ciliary basal body-plasma membrane docking GO:0097711 9.85 TMEM67 SDCCAG8 RPGRIP1L NPHP4 C2CD3
2 determination of left/right symmetry GO:0007368 9.83 RPGRIP1L IFT52 IFT140 DYNC2LI1 BBS7
3 smoothened signaling pathway GO:0007224 9.8 WDR19 TTC21B KIAA0586 IFT52 BBS7
4 in utero embryonic development GO:0001701 9.77 WDR19 RPGRIP1L C2CD3
5 non-motile cilium assembly GO:1905515 9.73 RPGRIP1L IFT52 IFT140 C2CD3 BBS7 BBS1
6 regulation of smoothened signaling pathway GO:0008589 9.72 TTC21B RPGRIP1L IFT81 IFT140 C2CD3
7 heart looping GO:0001947 9.7 IFT52 C2CD3 BBS7
8 embryonic digit morphogenesis GO:0042733 9.69 IFT52 IFT140 C2CD3
9 intraciliary retrograde transport GO:0035721 9.67 WDR19 TTC21B IFT140 DYNC2LI1
10 protein localization to cilium GO:0061512 9.65 TTC21B IFT140 BBS1
11 cell projection organization GO:0030030 9.65 WDR19 TMEM67 KIAA0586 IFT81 IFT52 IFT140
12 intraciliary transport involved in cilium assembly GO:0035735 9.63 WDR19 TTC21B IFT81 IFT52 IFT140 DYNC2LI1
13 photoreceptor cell maintenance GO:0045494 9.59 NPHP4 BBS1
14 embryonic cranial skeleton morphogenesis GO:0048701 9.58 WDR19 IFT140
15 limb morphogenesis GO:0035108 9.58 RPGRIP1L IFT140
16 intraciliary transport GO:0042073 9.57 IFT81 IFT140
17 ventricular system development GO:0021591 9.56 TTC21B CENPF
18 embryonic camera-type eye development GO:0031076 9.55 WDR19 IFT140
19 photoreceptor cell outer segment organization GO:0035845 9.54 NPHP4 IFT140
20 neural tube patterning GO:0021532 9.49 RPGRIP1L IFT140
21 cilium assembly GO:0060271 9.36 WDR19 TMEM67 RPGRIP1L KIAA0586 IFT81 IFT52

Molecular functions related to Ciliopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II repressing transcription factor binding GO:0001103 8.62 BBS7 BBS1

Sources for Ciliopathy

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