Primary Ciliary Dyskinesia (ICS)

Categories: Ear diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases

Aliases & Classifications for Primary Ciliary Dyskinesia

MalaCards integrated aliases for Primary Ciliary Dyskinesia:

Name: Primary Ciliary Dyskinesia 38 12 76 24 53 25 37 15 63
Immotile Cilia Syndrome 24 53 25
Ciliary Motility Disorders 44 73
Dyskinesia, Ciliary, Primary 40
Ciliary Dyskinesia Primary 53
Polynesian Bronchiectasis 53
Ciliary Motility Disorder 12
Immotile Ciliary Syndrome 12
Kartagener Syndrome 73
Pcd 25
Ics 53


External Ids:

Disease Ontology 12 DOID:9562
MeSH 44 D002925
NCIt 50 C84638
SNOMED-CT 68 86204009 9057007
KEGG 37 H00564

Summaries for Primary Ciliary Dyskinesia

PubMed Health : 63 About primary ciliary dyskinesia: Primary ciliary (SIL-e-ar-e) dyskinesia (dis-kih-NE-ze-ah), or PCD, is a rare disease that affects tiny, hair-like structures that line the airways. These structures are called cilia (SIL-e-ah).Cilia move together in wave-like motions. They carry mucus (a slimy substance) toward the mouth to be coughed or sneezed out of the body. The mucus contains inhaled dust, bacteria, and other small particles.If the cilia don't work well, bacteria stay in your airways. This can cause breathing problems, infections, and other disorders. PCD mainly affects the sinuses, ears, and lungs. Some people who have PCD have breathing problems from the moment of birth.Sperm cells have structures that are like cilia. In men who have PCD, these structures also may not work well. This can cause fertility problems. "Fertility" refers to the ability to have children.Fertility problems also occur in some women who have PCD. These problems likely are due to faulty cilia in the fallopian tubes. (The fallopian tubes carry eggs from the ovaries to the uterus.)

MalaCards based summary : Primary Ciliary Dyskinesia, also known as immotile cilia syndrome, is related to ciliary dyskinesia, primary, 1 and kartagener syndrome, and has symptoms including headache An important gene associated with Primary Ciliary Dyskinesia is CILD4 (Ciliary Dyskinesia, Primary, 4). The drugs Azithromycin and Ivacaftor have been mentioned in the context of this disorder. Affiliated tissues include Primitive Streak, lung and testes, and related phenotypes are recurrent respiratory infections and cellular

Disease Ontology : 12 A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.

Genetics Home Reference : 25 Primary ciliary dyskinesia is a disorder characterized by chronic respiratory tract infections, abnormally positioned internal organs, and the inability to have children (infertility). The signs and symptoms of this condition are caused by abnormal cilia and flagella. Cilia are microscopic, finger-like projections that stick out from the surface of cells. They are found in the linings of the airway, the reproductive system, and other organs and tissues. Flagella are tail-like structures, similar to cilia, that propel sperm cells forward.

NIH Rare Diseases : 53 Primary ciliary dyskinesia is a genetic disease which affects the upper and lower airways of the lungs. Through an inherited defective gene, the cilia (tiny hair-like structures that move mucus out of the respiratory passages) in individuals affected by this condition are either immotile (unable to move) or dysmotile (they move incorrectly). As a result, the body is not able to keep the lungs and sinuses clear of fluids, which can lead to congestion, infection, and various other complications. Because cilia are also present in the brain and reproductive organs, individuals with primary ciliary dyskinesia may also have chronic headaches, hydrocephalus and infertility.  

Wikipedia : 76 Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a... more...

GeneReviews: NBK1122

Related Diseases for Primary Ciliary Dyskinesia

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 1 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 3 Ciliary Dyskinesia, Primary, 4
Ciliary Dyskinesia, Primary, 5 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 7 Ciliary Dyskinesia, Primary, 8
Ciliary Dyskinesia, Primary, 9 Ciliary Dyskinesia, Primary, 10
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 17 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 19 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 24
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 27 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 32 Ciliary Dyskinesia, Primary, 33
Ciliary Dyskinesia, Primary, 34 Ciliary Dyskinesia, Primary, 35
Ciliary Dyskinesia, Primary, 37 Ciliary Dyskinesia, Primary, 38
Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

Diseases related to Primary Ciliary Dyskinesia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 355)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 31.7 ARMC4 CCDC114 DNAAF1 DNAAF2 DNAH1 DNAH5
2 kartagener syndrome 30.9 ARMC4 CCDC114 CCDC39 CCDC65 DNAAF1 DNAAF2
3 situs inversus 30.1 ARMC4 CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1
4 congenital disorder of glycosylation, type ic 12.5
5 pseudohypoparathyroidism, type ic 12.5
6 cutis laxa, autosomal recessive, type ic 12.3
7 glycogen storage disease ic 12.3
8 interstitial cystitis 12.3
9 neuropathy, hereditary sensory and autonomic, type ic 12.2
10 usher syndrome, type ic 12.2
11 amelogenesis imperfecta, type ic 12.2
12 lymphedema, hereditary, ic 12.2
13 ciliary dyskinesia, primary, 23 12.2
14 ciliary dyskinesia, primary, 25 12.2
15 ciliary dyskinesia, primary, 9 12.1
16 ciliary dyskinesia, primary, 35 12.1
17 ciliary dyskinesia, primary, 14 12.1
18 ciliary dyskinesia, primary, 15 12.1
19 ciliary dyskinesia, primary, 16 12.1
20 ciliary dyskinesia, primary, 17 12.1
21 ciliary dyskinesia, primary, 19 12.1
22 ciliary dyskinesia, primary, 20 12.1
23 ciliary dyskinesia, primary, 21 12.1
24 ciliary dyskinesia, primary, 26 12.1
25 ciliary dyskinesia, primary, 27 12.1
26 ciliary dyskinesia, primary, 28 12.1
27 ciliary dyskinesia, primary, 24 12.1
28 ciliary dyskinesia, primary, 3 12.1
29 ciliary dyskinesia, primary, 7 12.1
30 ciliary dyskinesia, primary, 2 12.1
31 ciliary dyskinesia, primary, 5 12.1
32 ciliary dyskinesia, primary, 10 12.1
33 ciliary dyskinesia, primary, 11 12.1
34 ciliary dyskinesia, primary, 12 12.1
35 ciliary dyskinesia, primary, 13 12.1
36 ciliary dyskinesia, primary, 18 12.1
37 ciliary dyskinesia, primary, 22 12.1
38 ciliary dyskinesia, primary, 29 12.1
39 ciliary dyskinesia, primary, 30 12.1
40 ciliary dyskinesia, primary, 33 12.0
41 ciliary dyskinesia, primary, 34 12.0
42 iridocorneal endothelial syndrome 12.0
43 isolated focal cortical dysplasia type ic 12.0
44 ciliary dyskinesia, primary, 32 12.0
45 ciliary dyskinesia, primary, 4 12.0
46 ciliary dyskinesia, primary, 8 11.9
47 ciliary dyskinesia, primary, 6 11.9
48 ciliary dyskinesia, primary, 37 11.9
49 alg6-congenital disorder of glycosylation 11.9
50 stromme syndrome 11.9

Graphical network of the top 20 diseases related to Primary Ciliary Dyskinesia:

Diseases related to Primary Ciliary Dyskinesia

Symptoms & Phenotypes for Primary Ciliary Dyskinesia

Human phenotypes related to Primary Ciliary Dyskinesia:

# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 hallmark (90%) HP:0002205

UMLS symptoms related to Primary Ciliary Dyskinesia:


MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 ARMC4 CCDC39 DNAAF2 DNAH11 DNAH5 DNAI1
2 growth/size/body region MP:0005378 9.65 ARMC4 CCDC39 DNAAF2 DNAH11 DNAH5 DNAI1
3 craniofacial MP:0005382 9.63 CCDC39 DNAAF1 DNAH11 DNAH5 DNAI1 DPCD
4 respiratory system MP:0005388 9.32 ARMC4 CCDC39 DNAAF2 DNAH1 DNAH11 DNAH5

Drugs & Therapeutics for Primary Ciliary Dyskinesia

PubMedHealth treatment related to Primary Ciliary Dyskinesia: 63

Unfortunately, no treatment is available yet to fix faulty airway cilia. (Cilia are tiny, hair-like structures that line the airways.) Thus, treatment for primary ciliary dyskinesia (PCD) focuses on which symptoms and complications you have.The main goals of treating PCD are to:Control and treat lung, sinus, and ear infectionsRemove trapped mucus from the lungs and airways

Drugs for Primary Ciliary Dyskinesia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 40)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Azithromycin Approved Phase 3 83905-01-5 55185 447043
Ivacaftor Approved Phase 2 873054-44-5 16220172
3 Pharmaceutical Solutions Phase 2,Early Phase 1
Nitric Oxide Approved ,Not Applicable 10102-43-9 145068
Prednisolone phosphate Approved, Vet_approved Early Phase 1 302-25-0
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
Methylprednisolone hemisuccinate Approved Early Phase 1 2921-57-5
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
mometasone furoate Approved, Vet_approved Early Phase 1 83919-23-7
Prednisolone hemisuccinate Experimental Early Phase 1 2920-86-7
11 Endothelium-Dependent Relaxing Factors ,Not Applicable
12 Vasodilator Agents ,Not Applicable
13 Free Radical Scavengers ,Not Applicable
14 Antioxidants ,Not Applicable
15 Autonomic Agents ,Not Applicable,Early Phase 1
16 Respiratory System Agents ,Not Applicable
17 Neurotransmitter Agents ,Not Applicable
18 Protective Agents ,Not Applicable,Early Phase 1
19 Peripheral Nervous System Agents ,Not Applicable,Early Phase 1
20 Anti-Asthmatic Agents ,Not Applicable
21 Bronchodilator Agents ,Not Applicable
22 Albuterol
23 Liver Extracts
24 Immunologic Factors
25 Immunoglobulins
26 Antibodies, Monoclonal
27 Antibodies
28 Anti-Allergic Agents Early Phase 1
29 Antineoplastic Agents, Hormonal Early Phase 1
30 Hormone Antagonists Early Phase 1
31 Antiemetics Early Phase 1
32 Neuroprotective Agents Early Phase 1
33 Prednisolone acetate Early Phase 1
34 Hormones Early Phase 1
35 Methylprednisolone acetate Early Phase 1
36 Anti-Inflammatory Agents Early Phase 1
37 Dermatologic Agents Early Phase 1
38 Gastrointestinal Agents Early Phase 1
39 Hormones, Hormone Substitutes, and Hormone Antagonists Early Phase 1
40 glucocorticoids Early Phase 1

Interventional clinical trials:

(show all 43)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Unknown status NCT02531984 Phase 3 Azithromycin
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Completed NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
3 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
4 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
5 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
6 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
7 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
8 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115 Not Applicable
9 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
10 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
11 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
12 Determination of Normal Values of Nasal Nitric Oxide in Adults Completed NCT02133547
13 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
14 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
15 Electrical Impedance Tomography of Lung in Child and Young Age Completed NCT02290535
16 Applications of Nanotechnology and Chemical Sensors for the Detection and Identification of Chronic Sinusitis Subtypes by Respiratory Samples Completed NCT03379701
17 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
18 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Recruiting NCT03370029
19 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
20 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
21 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
22 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
23 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
24 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
25 PCD New Gene Discovery Recruiting NCT03801395
26 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207 Not Applicable
27 High Resolution Micro OCT Imaging Recruiting NCT03256773
28 WGS of Korean Idiopathic Bronchiectasis Recruiting NCT03809091
29 Natural History of Bronchiectasis Recruiting NCT00943514
30 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
31 Observational Study of Characteristics, Treatment and Outcomes With Severe Asthma in the United States (CHRONICLE) Recruiting NCT03373045
32 Genetics of Primary Ciliary Dyskinesia Active, not recruiting NCT02389049
33 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
34 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
35 PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients Active, not recruiting NCT03704896
36 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
37 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
38 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
39 The Efficacy of Nasal Steroids in Treatment of Otitis Media With Effusion: Acomparative Study Not yet recruiting NCT03491098 Early Phase 1 Mometasone Furoate spray;prednisolone sodium phosphate 15mg;hypertonic sea water solution spray
40 Infant Nasal Nitric Oxide Levels in Congenital Heart Disease Terminated NCT02551107 Not Applicable
41 Evaluation of the Safety of the Medical Device Simeox® Terminated NCT02061852 Not Applicable
42 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356 Not Applicable
43 Exhaled Nitric Oxide Levels in Infants and Young Children Infected With RSV or Other Viral Infections Withdrawn NCT01098227

Search NIH Clinical Center for Primary Ciliary Dyskinesia

Cochrane evidence based reviews: ciliary motility disorders

Genetic Tests for Primary Ciliary Dyskinesia

Anatomical Context for Primary Ciliary Dyskinesia

MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

Lung, Testes, Brain, Ovary, Uterus, Heart, Neutrophil
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Primary Ciliary Dyskinesia:
# Tissue Anatomical CompartmentCell Relevance
1 Primitive Streak Primitive Streak Affected by disease

Publications for Primary Ciliary Dyskinesia

Articles related to Primary Ciliary Dyskinesia:

(show top 50) (show all 725)
# Title Authors Year
A novel, noninvasive assay shows that distal airway oxygen tension is low in cystic fibrosis, but not in primary ciliary dyskinesia. ( 30485726 )
Variation in treatment strategies for the eradication of Pseudomonas aeruginosa in primary ciliary dyskinesia across European centers. ( 30021461 )
Corrigendum: Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family With Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure. ( 29652410 )
Reduced anaerobic and aerobic performance in children with primary ciliary dyskinesia. ( 29487997 )
Primary ciliary dyskinesia with normal ultrastructure: three-dimensional tomography detects absence of DNAH11. ( 29467202 )
Extended Interval Tobramycin Pharmacokinetics in a Pediatric Patient With Primary Ciliary Dyskinesia Presenting With an Acute Respiratory Exacerbation. ( 29720919 )
No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia. ( 29447810 )
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. ( 29363216 )
Are inhaled corticosteroids prescribed rationally in primary ciliary dyskinesia? ( 29439021 )
Fitness and lung function in children with primary ciliary dyskinesia and cystic fibrosis. ( 29858006 )
Hearing loss in children with primary ciliary dyskinesia. ( 29287859 )
Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings. ( 29408869 )
Whole-Exome Sequencing Identified a Novel Compound Heterozygous Mutation of <i>LRRC6</i> in a Chinese Primary Ciliary Dyskinesia Patient. ( 29511670 )
Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms. ( 29727693 )
C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia. ( 29727692 )
Olfactory dysfunction is worse in primary ciliary dyskinesia compared with other causes of chronic sinusitis in children. ( 29490941 )
Primary ciliary dyskinesia: keep it on your radar. ( 29133352 )
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. ( 29365104 )
Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study. ( 29366817 )
Ciliated conical epithelial cell protrusions point towards a diagnosis of primary ciliary dyskinesia. ( 29940967 )
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index. ( 29368042 )
Compound Heterozygous Variants in the Coiled-Coil Domain Containing 40 Gene in a Chinese Family with Primary Ciliary Dyskinesia Cause Extreme Phenotypic Diversity in Cilia Ultrastructure. ( 29456554 )
The sense of smell in primary ciliary dyskinesia. ( 29627801 )
Imaging Lung Function Abnormalities in Primary Ciliary Dyskinesia Using Hyperpolarised Gas Ventilation MRI. ( 29684285 )
Primary Ciliary Dyskinesia and Situs Ambiguus: A Rare Association. ( 29552537 )
Adenoid hypertrophy affects screening for primary ciliary dyskinesia using nasal nitric oxide. ( 30368395 )
Why, when and how to investigate primary ciliary dyskinesia in adult patients with bronchiectasis. ( 30151188 )
The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort. ( 30238669 )
Comparison of Nocturnal Cough Analysis in Healthy Subjects and in Patients with Cystic Fibrosis and Primary Ciliary Dyskinesia: A Prospective Observational Study. ( 30408808 )
Comparative proteomics of respiratory exosomes in cystic fibrosis, primary ciliary dyskinesia and asthma. ( 30032860 )
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia. ( 30166424 )
Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia. ( 30517620 )
Primary Ciliary Dyskinesia: Longitudinal Study of Lung Disease by Ultrastructure Defect and Genotype. ( 30067075 )
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. ( 29905515 )
Neurocognitive disorders and sleep in children with primary ciliary dyskinesia. ( 29992786 )
Primary Ciliary Dyskinesia (PCD). ( 30004251 )
Novel Mutation in Retinitis Pigmentosa GTPase Regulator Gene Causes Primary Ciliary Dyskinesia and Retinitis Pigmentosa. ( 30021045 )
Lung function in patients with primary ciliary dyskinesia: an iPCD Cohort study. ( 30049738 )
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia: a guideline review. ( 30076157 )
Lung function in primary ciliary dyskinesia: breaking the myth that this is a mild disease. ( 30139762 )
Severe disease due to CCDC40 gene variants and the perils of late diagnosis in primary ciliary dyskinesia. ( 30209139 )
Induced Pluripotent Stem Cells for Primary Ciliary Dyskinesia Modeling and Personalized Medicine. ( 30230352 )
Characterising the nutritional status of children with primary ciliary dyskinesia. ( 30243504 )
Structural and Functional Lung Impairment in Primary Ciliary Dyskinesia. Assessment with Magnetic Resonance Imaging and Multiple Breath Washout in Comparison to Spirometry. ( 30290127 )
CCDC114 is mutated in patient with a complex phenotype combining primary ciliary dyskinesia, sensorineural deafness, and renal disease. ( 30291279 )
Generation of the induced pluripotent stem cell line UHOMi001-A from a patient with mutations in CCDC40 gene causing Primary Ciliary Dyskinesia (PCD). ( 30296669 )
Genomic profiling supports the diagnosis of primary ciliary dyskinesia and reveals novel candidate genes and genetic variants. ( 30300419 )
Clinical Practice Guideline: Summary for Clinicians. Diagnosis of Primary Ciliary Dyskinesia. ( 30433820 )
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversus. ( 30504913 )
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. ( 28176794 )

Variations for Primary Ciliary Dyskinesia

Expression for Primary Ciliary Dyskinesia

Search GEO for disease gene expression data for Primary Ciliary Dyskinesia.

Pathways for Primary Ciliary Dyskinesia

GO Terms for Primary Ciliary Dyskinesia

Cellular components related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.97 ARMC4 CCDC114 CCDC65 DNAAF1 DNAH1 DNAH11
2 microtubule GO:0005874 9.88 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2
3 motile cilium GO:0031514 9.8 CCDC65 DNAH1 DNAH11 LRRC6 RSPH1 RSPH4A
4 cilium GO:0005929 9.8 ARMC4 CCDC114 CCDC39 CCDC65 DNAAF1 DNAH1
5 dynein complex GO:0030286 9.77 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2
6 sperm flagellum GO:0036126 9.67 DNAH1 DNAI2 RSPH1
7 axonemal dynein complex GO:0005858 9.63 DNAH1 DNAH5 DNAI2
8 outer dynein arm GO:0036157 9.62 CCDC114 DNAH5 DNAI1 DNAI2
9 9+2 motile cilium GO:0097729 9.61 DNAH11 DNAH5 RSPH9
10 axoneme GO:0005930 9.36 ARMC4 CCDC114 CCDC39 CCDC65 DNAAF1 DNAH1
11 cytoplasm GO:0005737 10.36 ARMC4 CCDC65 DNAAF1 DNAAF2 DNAH1 DNAH11
12 cytoskeleton GO:0005856 10.14 ARMC4 CCDC65 DNAAF1 DNAH1 DNAH11 DNAH5

Biological processes related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.92 CCDC65 DNAAF1 DNAH5 DNAI2 LRRC6
2 microtubule-based movement GO:0007018 9.91 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2
3 heart development GO:0007507 9.88 ARMC4 DNAH11 DNAH5 DNAI1
4 determination of left/right symmetry GO:0007368 9.88 ARMC4 DNAH11 DNAH5 DNAI1 DNAI2 DPCD
5 cilium-dependent cell motility GO:0060285 9.8 CCDC39 CCDC65 DNAAF2 DNAH1
6 cell projection organization GO:0030030 9.79 ARMC4 DNAI1 DNAI2
7 epithelial cilium movement GO:0003351 9.78 DNAH1 DNAH11 DNAI1 DPCD
8 motile cilium assembly GO:0044458 9.77 CCDC39 DNAAF1 LRRC6 RSPH9 ZMYND10
9 axonemal dynein complex assembly GO:0070286 9.76 CCDC39 CCDC65 DNAAF1 DNAAF2
10 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.73 CCDC39 DNAAF1 DNAH11 LRRC6
11 cilium movement GO:0003341 9.73 ARMC4 CCDC114 CCDC39 DNAAF1 DNAH1 DNAH11
12 axoneme assembly GO:0035082 9.71 RSPH1 RSPH4A RSPH9
13 flagellated sperm motility GO:0030317 9.7 CCDC39 DNAH1 DNAH11 DNAH5 DNAI1 DPCD
14 inner dynein arm assembly GO:0036159 9.65 CCDC39 DNAAF1 DNAH1 LRRC6 ZMYND10
15 regulation of cilium beat frequency GO:0003356 9.62 ARMC4 CCDC39 DNAAF1 DNAH11
16 ventricular system development GO:0021591 9.61 ARMC4 DPCD
17 lateral ventricle development GO:0021670 9.6 DNAH5 DPCD
18 cilium movement involved in cell motility GO:0060294 9.59 DNAH1 RSPH9
19 determination of digestive tract left/right asymmetry GO:0071907 9.58 CCDC39 DNAAF1
20 determination of liver left/right asymmetry GO:0071910 9.57 CCDC39 DNAAF1
21 determination of pancreatic left/right asymmetry GO:0035469 9.56 CCDC39 DNAAF1
22 left/right pattern formation GO:0060972 9.55 DNAAF1 DPCD
23 outer dynein arm assembly GO:0036158 9.23 ARMC4 CCDC114 DNAAF1 DNAH5 DNAI1 DNAI2

Molecular functions related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dynein intermediate chain binding GO:0045505 9.54 DNAH1 DNAH11 DNAH5
2 dynein light intermediate chain binding GO:0051959 9.5 DNAH1 DNAH11 DNAH5
3 microtubule motor activity GO:0003777 9.46 DNAH1 DNAH11 DNAH5 DNAI2
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.43 DNAI1 DNAI2
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.43 DNAH1 DNAH11 DNAH5
6 dynein heavy chain binding GO:0045504 9.4 DNAI1 DNAI2
7 motor activity GO:0003774 9.35 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2
8 dynein light chain binding GO:0045503 9.02 DNAH1 DNAH11 DNAH5 DNAI1 DNAI2

Sources for Primary Ciliary Dyskinesia

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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