Aliases & Classifications for Ciliopathy

MalaCards integrated aliases for Ciliopathy:

Name: Ciliopathy 58 6 17

Classifications:



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Orphanet 58 ORPHA363250

Summaries for Ciliopathy

MalaCards based summary : Ciliopathy is related to short-rib thoracic dysplasia 4 with or without polydactyly and short-rib thoracic dysplasia 7 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 Ethanol and Nitric Oxide 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 : 74 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 317)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 4 with or without polydactyly 32.9 TTC21B IFT140
2 short-rib thoracic dysplasia 7 with or without polydactyly 32.8 WDR19 TTC21B IFT140
3 short-rib thoracic dysplasia 9 with or without polydactyly 32.7 WDR19 TTC21B IFT140
4 short-rib thoracic dysplasia 5 with or without polydactyly 32.7 WDR19 TTC21B IFT140
5 short-rib thoracic dysplasia 2 with or without polydactyly 32.3 WDR19 TTC21B
6 joubert syndrome 21 32.1 SDCCAG8 NPHP4
7 bardet-biedl syndrome 1 32.0 KIF7 BBS7 BBS1
8 joubert syndrome 26 32.0 TMEM67 KIF7
9 meckel syndrome, type 8 31.8 TMEM67 RPGRIP1L
10 short-rib thoracic dysplasia 12 31.6 WDR19 TTC21B KIAA0586 IFT52 DYNC2LI1
11 bardet-biedl syndrome 17 31.5 BBS7 BBS1
12 bardet-biedl syndrome 16 31.5 SDCCAG8 BBS7 BBS1
13 bardet-biedl syndrome 13 31.5 SDCCAG8 BBS7 BBS1
14 bardet-biedl syndrome 18 31.4 BBS7 BBS1
15 polycystic kidney disease 4 with or without polycystic liver disease 31.0 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 IFT140
16 congenital hepatic fibrosis 31.0 TMEM67 RPGRIP1L
17 bardet-biedl syndrome 14 30.8 TMEM67 SDCCAG8 RPGRIP1L BBS7 BBS1
18 short-rib thoracic dysplasia 3 with or without polydactyly 30.7 WDR19 TTC21B KIAA0586 IFT81 IFT52 IFT140
19 juvenile nephronophthisis 30.6 WDR19 NPHP4
20 cranioectodermal dysplasia 1 30.5 WDR19 TTC21B TMEM67 RPGRIP1L NPHP4 KIAA0586
21 joubert syndrome 17 30.5 WDR19 TTC21B IFT140
22 apraxia 30.5 TMEM67 RPGRIP1L KIF7
23 meckel syndrome, type 3 30.4 TMEM67 RPGRIP1L NPHP4
24 short-rib thoracic dysplasia 1 with or without polydactyly 30.3 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L KIAA0586
25 joubert syndrome 20 30.3 TMEM67 NPHP4
26 short rib-polydactyly syndrome 30.3 TTC21B IFT81 IFT52 DYNC2LI1
27 mckusick-kaufman syndrome 30.2 BBS7 BBS1
28 pathologic nystagmus 30.2 TMEM67 KIF7 BBS1
29 joubert syndrome 9 30.2 TMEM67 RPGRIP1L
30 joubert syndrome with jeune asphyxiating thoracic dystrophy 30.1 KIAA0586 IFT140
31 short-rib thoracic dysplasia 6 with or without polydactyly 30.0 WDR19 TTC21B TMEM67 KIAA0586 IFT140 DYNC2LI1
32 endocrine-cerebroosteodysplasia 30.0 KIF7 KIAA0586
33 nephronophthisis 19 29.9 TMEM67 RPGRIP1L NPHP4
34 nephronophthisis 14 29.9 TMEM67 RPGRIP1L NPHP4
35 meckel syndrome, type 6 29.9 TMEM67 RPGRIP1L NPHP4
36 coach syndrome 29.8 TMEM67 RPGRIP1L
37 nephronophthisis 2 29.6 TMEM67 SDCCAG8 RPGRIP1L NPHP4
38 cystic kidney disease 29.6 TTC21B TMEM67 RPGRIP1L NPHP4 IFT52 IFT140
39 nephronophthisis 13 29.6 WDR19 TTC21B SDCCAG8 NPHP4
40 bardet-biedl syndrome 10 29.5 BBS7 BBS1
41 orofaciodigital syndrome 29.4 TMEM67 NPHP4 KIF7 KIAA0586 C2CD3
42 bardet-biedl syndrome 6 29.4 SDCCAG8 BBS7 BBS1
43 nephronophthisis 12 29.4 WDR19 TTC21B SDCCAG8 NPHP4
44 asphyxiating thoracic dystrophy 29.3 WDR19 TTC21B RPGRIP1L NPHP4 KIAA0586 IFT81
45 alstrom syndrome 29.3 BBS7 BBS1
46 nephronophthisis 11 29.2 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
47 nephronophthisis 9 29.2 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
48 retinal degeneration 29.2 TTC21B TMEM67 RPGRIP1L NPHP4 IFT52 IFT140
49 leber congenital amaurosis 29.1 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 IFT140
50 polydactyly 29.1 TTC21B KIAA0586 IFT81 IFT52 IFT140 DYNC2LI1

Graphical network of the top 20 diseases related to Ciliopathy:



Diseases related to Ciliopathy

Symptoms & Phenotypes for Ciliopathy

MGI Mouse Phenotypes related to Ciliopathy:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.32 BBS1 BBS7 C2CD3 CENPF DYNC2LI1 IFT140
2 cardiovascular system MP:0005385 10.27 BBS1 BBS7 C2CD3 CENPF DYNC2LI1 IFT140
3 growth/size/body region MP:0005378 10.18 BBS1 BBS7 CENPF DYNC2LI1 IFT140 IFT81
4 craniofacial MP:0005382 10.16 BBS1 BBS7 IFT140 KIAA0586 KIF7 RPGRIP1L
5 embryo MP:0005380 10.1 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586 KIF7
6 limbs/digits/tail MP:0005371 10.1 BBS1 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586
7 mortality/aging MP:0010768 10.1 BBS1 BBS7 C2CD3 CENPF DYNC2LI1 IFT140
8 digestive/alimentary MP:0005381 9.98 BBS7 IFT140 KIF7 RPGRIP1L SDCCAG8 TMEM67
9 nervous system MP:0003631 9.97 BBS1 BBS7 C2CD3 DYNC2LI1 IFT140 KIAA0586
10 renal/urinary system MP:0005367 9.56 BBS1 BBS7 IFT140 NPHP4 RPGRIP1L SDCCAG8
11 vision/eye MP:0005391 9.28 BBS1 BBS7 IFT140 IFT81 KIF7 NPHP4

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
Ethanol Approved 64-17-5 702
2
Nitric Oxide Approved 10102-43-9 145068
3 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
2 COPD Metabolome, Smoking Oxidants and Aberrant Ciliated Cell Function Recruiting NCT01974154
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 An Observational, Clinical Study to Collect the Medical Data in Order to Determine the Craniofacial Characteristics Through Phenotypic Analysis on Children With Sensenbrenner Treated/Followed at the Hôpital Femme Mère Enfant From 2005 Not yet recruiting NCT04184531
6 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:

40
Kidney, Liver, Brain, Eye, Retina, Heart, Bone

Publications for Ciliopathy

Articles related to Ciliopathy:

(show top 50) (show all 719)
# Title Authors PMID Year
1
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 61 6
26275418 2015
2
Multiple genetic mutations implicate spectrum of phenotypes in Bardet-Biedl syndrome. 61
31639430 2020
3
MNS1 variant associated with situs inversus and male infertility. 61
31534215 2020
4
Induction of an Alternative mRNA 5' Leader Enhances Translation of the Ciliopathy Gene Inpp5e and Resistance to Oncolytic Virus Infection. 61
31851930 2019
5
Analysis from the perspective of cilia: the protective effect of PARP inhibitors on visual function during light-induced damage. 61
31802371 2019
6
Tissue dependent differences in Bardet-Biedl Syndrome gene expression. 61
31845361 2019
7
Nephronophthisis due to a novel DCDC2 variant in a patient from African-Caribbean descent: A case report. 61
31821705 2019
8
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. 61
31835165 2019
9
Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa. 61
31589838 2019
10
Molecular Diagnosis of Kidney Transplant Failure by the Urine. 61
31814324 2019
11
Phenotypic similarity for rare disease: Ciliopathy diagnoses and subtyping. 61
31622800 2019
12
Role of the RNA-binding protein Bicaudal-C1 and interacting factors in cystic kidney diseases. 61
31838063 2019
13
Splicing in the pathogenesis, diagnosis and treatment of ciliopathies. 61
31698098 2019
14
Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms. 61
31366608 2019
15
BBS5 and INPP5E mutations associated with ciliopathy disorders in families from Pakistan. 61
31173343 2019
16
Genome-wide suppressor screen identifies USP35/USP38 as therapeutic candidates for ciliopathies. 61
31723061 2019
17
Phenotypic and mutational spectrum of 21 Chinese patients with Alström syndrome. 61
31755649 2019
18
De Novo Mutations in FOXJ1 Result in a Motile Ciliopathy with Hydrocephalus and Randomization of Left/Right Body Asymmetry. 61
31630787 2019
19
ZCCHC8, the nuclear exosome targeting component, is mutated in familial pulmonary fibrosis and is required for telomerase RNA maturation. 61
31488579 2019
20
Nephronophthisis type I, left ventricular non-compaction cardiomyopathy and reduced cilia motility-atypical manifestations of one disease. 61
31583536 2019
21
Whole exome sequencing identified two homozygous ALMS1 mutations in an Iranian family with Alström syndrome. 61
31669637 2019
22
Biallelic mutations in TTC26 (IFT56) cause severe biliary ciliopathy in humans. 61
31595528 2019
23
Cutaneous findings in Bardet-Biedl syndrome. 61
30790276 2019
24
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants. 61
31635528 2019
25
A unique case of vision loss in a patient with hypotrichosis and juvenile macular dystrophy and primary ciliary dyskinesia. 61
31431935 2019
26
Rapidly Progressive Nephronophthisis in a 2-Year-Old Boy with a Homozygous SDCCAG8 Mutation. 61
31534065 2019
27
Ahi1 promotes Arl13b ciliary recruitment, regulates Arl13b stability and is required for normal cell migration. 61
31391239 2019
28
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons. 61
31479441 2019
29
Novel IFT140 variants cause spermatogenic dysfunction in humans. 61
31397098 2019
30
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families. 61
31079206 2019
31
A Unique Manifestation of Bardet-Biedl Syndrome with Otolaryngologic Symptoms and Bronchopneumonia in a One-year-old Girl. 61
31720185 2019
32
A new mouse model for the neurodevelopmental ciliopathy Joubert syndrome. 61
31095728 2019
33
Mice with a conditional deletion of Talpid3 (KIAA0586) - a model for Joubert syndrome. 61
30924151 2019
34
Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice. 61
31425546 2019
35
Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion. 61
31042281 2019
36
Comparison of structural progression between ciliopathy and non-ciliopathy associated with autosomal recessive retinitis pigmentosa. 61
31370859 2019
37
Membrane retrieval, recycling and release pathways that organise and sculpt the ciliary membrane. 61
31146146 2019
38
Evolutionary conserved networks of human height identify multiple Mendelian causes of short stature. 61
30809043 2019
39
Ciliopathy-Associated Protein Kinase ICK Requires Its Non-Catalytic Carboxyl-Terminal Domain for Regulation of Ciliogenesis. 61
31277411 2019
40
Extraciliary roles of the ciliopathy protein JBTS17 in mitosis and neurogenesis. 61
31004438 2019
41
Disrupted Plasma Membrane Protein Homeostasis in a Xenopus Laevis Model of Retinitis Pigmentosa. 61
31061086 2019
42
Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association. 61
31464260 2019
43
Genomic knockout of alms1 in zebrafish recapitulates Alström syndrome and provides insight into metabolic phenotypes. 61
31220269 2019
44
Clinical characteristics of individual organ system disease in non-motile ciliopathies. 61
31763176 2019
45
The molecular genetics of Joubert syndrome and related ciliopathies: The challenges of genetic and phenotypic heterogeneity. 61
31763177 2019
46
Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts. 61
31346239 2019
47
TALPID3 in Joubert syndrome and related ciliopathy disorders. 61
31326647 2019
48
Small GTPases in hedgehog signalling: emerging insights into the disease mechanisms of Rab23-mediated and Arl13b-mediated ciliopathies. 61
31465935 2019
49
Identifying gene mutations of Chinese patients with polycystic kidney disease through targeted next-generation sequencing technology. 61
31056860 2019
50
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome. 61
30723319 2019

Variations for Ciliopathy

ClinVar genetic disease variations for Ciliopathy:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NEK4 NM_003157.6(NEK4):c.2017dup (p.Ile673fs)duplication Likely pathogenic 266082 rs770418305 3:52775503-52775503 3:52741487-52741487
2 IFT81 NM_014055.4(IFT81):c.1188+1G>ASNV Uncertain significance 218892 rs864309657 12:110600871-110600871 12:110163066-110163066
3 IFT81 NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs)deletion Uncertain significance 218893 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 21)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
2 cytoskeleton GO:0005856 10.17 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
3 microtubule organizing center GO:0005815 10.08 SDCCAG8 RPGRIP1L NPHP4 KIAA0586 IFT140 DYNC2LI1
4 cilium GO:0005929 10.07 WDR19 TTC21B TMEM67 RPGRIP1L NPHP4 NEK4
5 centrosome GO:0005813 9.97 TMEM67 SDCCAG8 RPGRIP1L NPHP4 KIAA0586 IFT81
6 axoneme GO:0005930 9.91 RPGRIP1L IFT140 DYNC2LI1 CENPF BBS7 BBS1
7 ciliary tip GO:0097542 9.91 WDR19 TTC21B KIF7 IFT81 IFT52 IFT140
8 centriole GO:0005814 9.85 SDCCAG8 KIAA0586 IFT52 C2CD3
9 photoreceptor connecting cilium GO:0032391 9.85 WDR19 RPGRIP1L NPHP4 IFT52 IFT140
10 motile cilium GO:0031514 9.84 WDR19 IFT81 IFT52 DYNC2LI1
11 ciliary transition zone GO:0035869 9.8 TMEM67 RPGRIP1L NPHP4 NEK4 DYNC2LI1
12 ciliary basal body GO:0036064 9.8 SDCCAG8 RPGRIP1L NPHP4 NEK4 KIF7 KIAA0586
13 photoreceptor outer segment GO:0001750 9.75 WDR19 IFT140 BBS7
14 ciliary membrane GO:0060170 9.74 TMEM67 BBS7 BBS1
15 non-motile cilium GO:0097730 9.7 WDR19 NPHP4 IFT140
16 intraciliary transport particle A GO:0030991 9.67 WDR19 TTC21B IFT140
17 intraciliary transport particle B GO:0030992 9.6 IFT81 IFT52
18 ciliary rootlet GO:0035253 9.59 RPGRIP1L NEK4
19 BBSome GO:0034464 9.58 BBS7 BBS1
20 photoreceptor cell cilium GO:0097733 9.56 SDCCAG8 IFT52
21 cell projection GO:0042995 9.53 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4

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

(show all 19)
# 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 non-motile cilium assembly GO:1905515 9.73 RPGRIP1L IFT52 IFT140 C2CD3 BBS7 BBS1
5 heart looping GO:0001947 9.72 IFT52 C2CD3 BBS7
6 regulation of smoothened signaling pathway GO:0008589 9.72 TTC21B RPGRIP1L IFT81 IFT140 C2CD3
7 embryonic digit morphogenesis GO:0042733 9.7 IFT52 IFT140 C2CD3
8 cilium assembly GO:0060271 9.7 WDR19 TMEM67 RPGRIP1L KIAA0586 IFT81 IFT52
9 regulation of cilium assembly GO:1902017 9.69 SDCCAG8 IFT140 DYNC2LI1
10 protein localization to cilium GO:0061512 9.67 TTC21B IFT140 BBS1
11 intraciliary retrograde transport GO:0035721 9.67 WDR19 TTC21B IFT140 DYNC2LI1
12 intraciliary transport GO:0042073 9.65 IFT81 IFT52 IFT140
13 intraciliary transport involved in cilium assembly GO:0035735 9.63 WDR19 TTC21B IFT81 IFT52 IFT140 DYNC2LI1
14 limb morphogenesis GO:0035108 9.58 RPGRIP1L IFT140
15 ventricular system development GO:0021591 9.58 TTC21B CENPF
16 embryonic camera-type eye development GO:0031076 9.57 WDR19 IFT140
17 photoreceptor cell outer segment organization GO:0035845 9.56 NPHP4 IFT140
18 neural tube patterning GO:0021532 9.54 RPGRIP1L IFT140
19 cell projection organization GO:0030030 9.36 WDR19 TMEM67 SDCCAG8 KIAA0586 IFT81 IFT52

Sources for Ciliopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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