Aliases & Classifications for Ciliopathy

MalaCards integrated aliases for Ciliopathy:

Name: Ciliopathy 58 29 6 17
Ciliopathies 29

Classifications:



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Orphanet 58 ORPHA363250

Summaries for Ciliopathy

MalaCards based summary : Ciliopathy, also known as ciliopathies, 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 TMEM231 (Transmembrane Protein 231), 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, brain and liver, and related phenotypes are cellular and cardiovascular system

Wikipedia : 74 A ciliopathy is any genetic disorder that affects the cellular cilia or the cilia anchoring structures,... more...

Related Diseases for Ciliopathy

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

(show top 50) (show all 318)
# Related Disease Score Top Affiliating Genes
1 short-rib thoracic dysplasia 4 with or without polydactyly 32.8 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 32.6 WDR19 TTC21B IFT140
4 short-rib thoracic dysplasia 5 with or without polydactyly 32.6 WDR19 TTC21B IFT140
5 short-rib thoracic dysplasia 2 with or without polydactyly 32.3 WDR19 TTC21B
6 bardet-biedl syndrome 1 32.1 KIF7 BBS7 BBS1
7 bardet-biedl syndrome 17 32.1 BBS7 BBS1
8 bardet-biedl syndrome 13 32.0 BBS7 BBS1
9 short-rib thoracic dysplasia 12 31.9 WDR19 TTC21B KIAA0586 IFT52
10 joubert syndrome 24 31.7 TMEM231 RPGRIP1L
11 bardet-biedl syndrome 16 31.7 SDCCAG8 BBS7 BBS1
12 bardet-biedl syndrome 19 31.6 BBS7 BBS1
13 weyers acrofacial dysostosis 31.2 WDR19 TTC21B KIAA0586 IFT52 IFT140
14 bardet-biedl syndrome 18 31.2 SDCCAG8 BBS7 BBS1
15 meckel syndrome, type 8 31.1 TMEM67 TMEM231 RPGRIP1L
16 short-rib thoracic dysplasia 3 with or without polydactyly 31.1 WDR19 TTC21B KIAA0586 IFT81 IFT52 IFT140
17 bardet-biedl syndrome 14 31.1 TMEM67 SDCCAG8 RPGRIP1L BBS7 BBS1
18 congenital hepatic fibrosis 30.7 TMEM67 RPGRIP1L
19 cranioectodermal dysplasia 1 30.6 WDR19 TTC21B TMEM67 RPGRIP1L NPHP4 KIAA0586
20 juvenile nephronophthisis 30.5 WDR19 NPHP4
21 short rib-polydactyly syndrome 30.5 TTC21B IFT81 IFT52
22 apraxia 30.5 TMEM67 RPGRIP1L KIF7
23 joubert syndrome 17 30.5 WDR19 TTC21B IFT140
24 short-rib thoracic dysplasia 1 with or without polydactyly 30.3 WDR19 TTC21B TMEM67 TMEM231 RPGRIP1L KIF7
25 polycystic kidney disease 4 with or without polycystic liver disease 30.2 WDR19 TTC21B TMEM67 TMEM231 RPGRIP1L NPHP4
26 joubert syndrome with jeune asphyxiating thoracic dystrophy 30.1 KIAA0586 IFT140
27 short-rib thoracic dysplasia 6 with or without polydactyly 30.1 WDR19 TTC21B TMEM67 KIF7 KIAA0586 IFT52
28 joubert syndrome 9 30.1 TMEM67 RPGRIP1L
29 endocrine-cerebroosteodysplasia 30.0 KIF7 KIAA0586
30 alstrom syndrome 29.9 RPGRIP1L BBS7 BBS1
31 nephronophthisis 19 29.9 TMEM67 RPGRIP1L NPHP4
32 asphyxiating thoracic dystrophy 29.9 WDR19 TTC21B RPGRIP1L NPHP4 KIAA0586 IFT81
33 nephronophthisis 14 29.9 TMEM67 RPGRIP1L NPHP4
34 leber congenital amaurosis 3 29.7 NPHP4 NEK4
35 nephronophthisis 13 29.7 WDR19 TTC21B SDCCAG8 NPHP4
36 cystic kidney disease 29.7 TTC21B TMEM67 RPGRIP1L NPHP4 IFT52 IFT140
37 joubert syndrome 20 29.7 TMEM231 NPHP4
38 renal-hepatic-pancreatic dysplasia 29.7 SDCCAG8 NPHP4 KIF7
39 inherited retinal disorder 29.7 WDR19 TTC21B KIAA0586 IFT140 BBS7 BBS1
40 nephronophthisis 12 29.5 WDR19 TTC21B SDCCAG8 NPHP4
41 orofaciodigital syndrome 29.4 TMEM67 TMEM231 KIAA0586 C2CD3
42 bardet-biedl syndrome 6 29.4 SDCCAG8 RPGRIP1L BBS7 BBS1
43 nephronophthisis 11 29.4 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
44 nephronophthisis 9 29.4 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
45 primary ciliary dyskinesia 29.4 WDR19 TTC21B TMEM67 RPGRIP1L NPHP4 KIAA0586
46 nephronophthisis 15 29.3 WDR19 SDCCAG8 NPHP4 C2CD3
47 meckel syndrome, type 3 29.2 TMEM67 TMEM231 RPGRIP1L NPHP4 BBS1
48 nephronophthisis 2 29.2 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4 BBS1
49 nephronophthisis 7 29.1 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
50 ellis-van creveld syndrome 29.0 WDR19 TTC21B RPGRIP1L KIAA0586 IFT81 IFT52

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 10.29 BBS1 BBS7 C2CD3 CENPF IFT140 KIAA0586
2 cardiovascular system MP:0005385 10.27 BBS1 BBS7 C2CD3 CENPF IFT140 IFT81
3 growth/size/body region MP:0005378 10.18 BBS1 BBS7 C2CD3 CENPF IFT140 IFT81
4 craniofacial MP:0005382 10.16 BBS1 BBS7 IFT140 KIAA0586 KIF7 RPGRIP1L
5 mortality/aging MP:0010768 10.13 BBS1 BBS7 C2CD3 CENPF IFT140 IFT52
6 embryo MP:0005380 10.1 BBS7 C2CD3 IFT140 KIAA0586 KIF7 RPGRIP1L
7 limbs/digits/tail MP:0005371 10.1 BBS1 BBS7 C2CD3 IFT140 KIAA0586 KIF7
8 digestive/alimentary MP:0005381 9.98 BBS7 IFT140 KIF7 RPGRIP1L SDCCAG8 TMEM67
9 nervous system MP:0003631 9.97 BBS1 BBS7 C2CD3 IFT140 KIAA0586 KIF7
10 renal/urinary system MP:0005367 9.56 BBS1 BBS7 IFT140 NPHP4 RPGRIP1L SDCCAG8
11 vision/eye MP:0005391 9.32 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
Nitric Oxide Approved 10102-43-9 145068
2
Ethanol Approved 64-17-5 702
3
Ceftibuten Approved, Investigational 97519-39-6 5282242 5282241
4 Liver Extracts
5 Anesthetics

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Characterisation of Orofaciodigital Syndromes and Other Clinical Phenotypes Secondary to Mutations in the OFD1 Gene Unknown status NCT01962129
2 Clinical and Molecular Investigations Into Ciliopathies Completed NCT00068224
3 Fetal Alcohol Spectrum Disorder-Is This a Ciliopathy? Completed NCT03802708
4 Assessment of the Prevalence and Mutational Spectrum of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome and Cerebello-oculo-renal Syndromes Completed NCT00873678
5 Management of Cystoid Macular Edema Secondary to Retinitis Pigmentosa Via Subliminal Micropulse Yellow Laser Completed NCT04234438
6 COPD Metabolome, Smoking Oxidants and Aberrant Ciliated Cell Function Recruiting NCT01974154
7 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
8 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
9 Clinical Study of a Single Ciliopathy: Alström Syndrome Terminated NCT02890550

Search NIH Clinical Center for Ciliopathy

Genetic Tests for Ciliopathy

Genetic tests related to Ciliopathy:

# Genetic test Affiliating Genes
1 Ciliopathies 29
2 Ciliopathy 29

Anatomical Context for Ciliopathy

MalaCards organs/tissues related to Ciliopathy:

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

Publications for Ciliopathy

Articles related to Ciliopathy:

(show top 50) (show all 1570)
# Title Authors PMID Year
1
IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy phenotype. 6 61
26275418 2015
2
Regulation of polycystin expression, maturation and trafficking. 61
32275942 2020
3
A nonsense variant in NME5 causes human primary ciliary dyskinesia with radial spoke defects. 61
32185794 2020
4
Intraflagellar transport 20: New target for the treatment of ciliopathies. 61
31893523 2020
5
LUZP1 and the tumor suppressor EPLIN modulate actin stability to restrict primary cilia formation. 61
32496561 2020
6
Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis. 61
32503575 2020
7
Fetal Skeletal Dysplasias: Radiologic-Pathologic Classification of 72 Cases. 61
32552261 2020
8
Limited time window for retinal gene therapy in a preclinical model of ciliopathy. 61
32568387 2020
9
Renal-Hepatic-Pancreatic Dysplasia: An Ultra-Rare Ciliopathy with a Novel NPHP3 Genotype. 61
32341812 2020
10
The "salt and pepper" pattern on renal ultrasound in a group of children with molecular-proven diagnosis of ciliopathy-related renal diseases. 61
32040628 2020
11
Mutations in the Kinesin-2 Motor KIF3B Cause an Autosomal-Dominant Ciliopathy. 61
32386558 2020
12
Absence of SCAPER causes male infertility in humans and Drosophila by modulating microtubule dynamics during meiosis. 61
32527956 2020
13
Nanobody-directed targeting of optogenetic tools to study signaling in the primary cilium. 61
32579112 2020
14
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies. 61
32307552 2020
15
Developmental and regenerative paradigms of cilia regulated hedgehog signaling. 61
32540122 2020
16
NRF2 and Primary Cilia: An Emerging Partnership. 61
32498260 2020
17
Role of DZIP1-CBY-FAM92 transition zone complex in the basal body to membrane attachment and ciliary budding. 61
32491167 2020
18
Insufficiency of ciliary cholesterol in hereditary Zellweger syndrome. 61
32368833 2020
19
Dental Anomalies in Rare, Genetic Ciliopathic Disorder-A Case Report and Review of Literature. 61
32560490 2020
20
Confirming TBC1D32-related ciliopathy in humans. 61
32573025 2020
21
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans. 61
31595528 2020
22
Childhood risk factors for adulthood chronic kidney disease. 61
32500249 2020
23
ARF Family GTPases with Links to Cilia. 61
32520609 2020
24
The FOXJ1 target Cfap206 is required for sperm motility, mucociliary clearance of the airways and brain development. 61
32376681 2020
25
Defining renal phenotype in Alström syndrome. 61
30307515 2020
26
The morbid genome of ciliopathies: an update. 61
32055034 2020
27
Cilia signaling and obesity. 61
32466971 2020
28
Lowe syndrome patient cells display mTOR- and RhoGTPase-dependent phenotypes alleviated by rapamycin and statins. 61
32391547 2020
29
Generation of two human induced pluripotent stem cell lines derived from two juvenile nephronophthisis patients with NPHP1 deletion. 61
32361464 2020
30
Molecular diagnosis of kidney transplant failure based on urine. 61
31814324 2020
31
Clinical and Molecular Diagnosis of Joubert Syndrome and Related Disorders. 61
32139166 2020
32
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. 61
32453716 2020
33
TALPID3 and ANKRD26 selectively orchestrate FBF1 localization and cilia gating. 61
32366837 2020
34
Genetic tests aid in counseling of fetuses with cerebellar vermis defects. 61
32386258 2020
35
Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations. 61
32384486 2020
36
Notch signaling regulates Akap12 expression and primary cilia length during renal tubule morphogenesis. 61
32474964 2020
37
Expanding the phenotype and the genotype of Stromme syndrome: A novel variant of the CENPF gene and literature review. 61
31953238 2020
38
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report. 61
32357925 2020
39
Senior-Løken syndrome and intracranial hypertension. 61
32432520 2020
40
Characteristics of genotype and phenotype in Chinese patients with Bardet-Biedl syndrome. 61
32448990 2020
41
PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation. 61
32312818 2020
42
Clinical and Pathological Features of a Newborn With Compound Heterozygous ANKS6 Variants. 61
31635528 2020
43
High prevalence of Bardet-Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3. 61
32361989 2020
44
'Kinesinopathies': emerging role of the kinesin family member genes in birth defects. 61
32430361 2020
45
Rapamycin treatment correlates changes in primary cilia expression with cell cycle regulation in epithelial cells. 61
32470549 2020
46
Dyslexia Candidate Gene and Ciliary Gene Expression Dynamics During Human Neuronal Differentiation. 61
32445086 2020
47
Prominins control ciliary length throughout the animal kingdom: New lessons from human prominin-1 and zebrafish prominin-3. 61
32201384 2020
48
Integrin-β1 is required for the renal cystogenesis caused by ciliary defects. 61
32308017 2020
49
Saccular Cyst and Airway Compromise in a New Born With Ciliopathy. 61
30961373 2020
50
Epb41l5 interacts with IQCB1 and regulates ciliary function in zebrafish embryos. 61
32501287 2020

Variations for Ciliopathy

ClinVar genetic disease variations for Ciliopathy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TMEM231 NM_001077418.3(TMEM231):c.352T>G (p.Leu118Val)SNV Pathogenic 812432 16:75579810-75579810 16:75545912-75545912
2 NEK4 NM_003157.6(NEK4):c.2017dup (p.Ile673fs)duplication Likely pathogenic 266082 rs770418305 3:52775502-52775503 3:52741486-52741487
3 TMEM231 NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe)SNV Uncertain significance 445818 rs376555896 16:75589770-75589770 16:75555872-75555872
4 IFT81 NM_014055.4(IFT81):c.1188+1G>ASNV Uncertain significance 218892 rs864309657 12:110600871-110600871 12:110163066-110163066
5 IFT81 NM_014055.4(IFT81):c.2015_2019del (p.Asp672fs)deletion Uncertain significance 218893 rs864309658 12:110656013-110656017 12:110218208-110218212

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 22)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
2 cytoskeleton GO:0005856 10.13 WDR19 TTC21B TMEM67 SDCCAG8 RPGRIP1L NPHP4
3 centrosome GO:0005813 10.03 TMEM67 SDCCAG8 RPGRIP1L NPHP4 KIAA0586 IFT81
4 microtubule organizing center GO:0005815 10 SDCCAG8 RPGRIP1L NPHP4 KIAA0586 IFT140 BBS7
5 ciliary basal body GO:0036064 9.97 SDCCAG8 RPGRIP1L NPHP4 NEK4 KIF7 KIAA0586
6 centriole GO:0005814 9.91 SDCCAG8 KIAA0586 IFT52 IFT140 C2CD3
7 axoneme GO:0005930 9.88 RPGRIP1L IFT140 CENPF BBS7 BBS1
8 ciliary tip GO:0097542 9.85 WDR19 TTC21B KIF7 IFT81 IFT52 IFT140
9 ciliary membrane GO:0060170 9.83 TMEM67 TMEM231 BBS7 BBS1
10 photoreceptor connecting cilium GO:0032391 9.83 WDR19 RPGRIP1L NPHP4 IFT52 IFT140
11 ciliary transition zone GO:0035869 9.8 TMEM67 TMEM231 RPGRIP1L NPHP4 NEK4
12 motile cilium GO:0031514 9.78 WDR19 IFT81 IFT52
13 cilium GO:0005929 9.77 WDR19 TTC21B TMEM67 TMEM231 RPGRIP1L NPHP4
14 photoreceptor outer segment GO:0001750 9.74 WDR19 IFT140 BBS7
15 non-motile cilium GO:0097730 9.71 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 MKS complex GO:0036038 9.59 TMEM67 TMEM231
19 ciliary rootlet GO:0035253 9.58 RPGRIP1L NEK4
20 BBSome GO:0034464 9.58 BBS7 BBS1
21 photoreceptor cell cilium GO:0097733 9.56 SDCCAG8 IFT52
22 cell projection GO:0042995 9.53 WDR19 TTC21B TMEM67 TMEM231 SDCCAG8 RPGRIP1L

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.85 WDR19 TMEM231 RPGRIP1L C2CD3
2 ciliary basal body-plasma membrane docking GO:0097711 9.8 TMEM67 SDCCAG8 RPGRIP1L NPHP4 C2CD3
3 smoothened signaling pathway GO:0007224 9.8 WDR19 TTC21B TMEM231 KIAA0586 IFT52 BBS7
4 determination of left/right symmetry GO:0007368 9.78 RPGRIP1L IFT52 IFT140 BBS7
5 intraciliary transport involved in cilium assembly GO:0035735 9.77 WDR19 TTC21B IFT81 IFT52 IFT140
6 embryonic digit morphogenesis GO:0042733 9.76 TMEM231 IFT52 IFT140 C2CD3
7 heart looping GO:0001947 9.7 IFT52 C2CD3 BBS7
8 cilium assembly GO:0060271 9.7 WDR19 TMEM67 TMEM231 RPGRIP1L KIAA0586 IFT81
9 protein localization to cilium GO:0061512 9.69 TTC21B IFT140 BBS1
10 intraciliary transport GO:0042073 9.67 IFT81 IFT52 IFT140
11 regulation of smoothened signaling pathway GO:0008589 9.65 TTC21B RPGRIP1L IFT81 IFT140 C2CD3
12 non-motile cilium assembly GO:1905515 9.63 RPGRIP1L IFT52 IFT140 C2CD3 BBS7 BBS1
13 intraciliary retrograde transport GO:0035721 9.61 WDR19 TTC21B IFT140
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 TMEM231 SDCCAG8 KIAA0586 IFT81

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
49 NCIt
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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