Primary Ciliary Dyskinesia

Categories: Rare diseases, Genetic 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


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Disease Ontology 12 DOID:9562
MeSH 44 D002925
NCIt 50 C84638
SNOMED-CT 68 86204009 9057007
KEGG 37 H00564
UMLS 73 C0008780

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 situs inversus and ciliary dyskinesia, primary, 1, and has symptoms including headache An important gene associated with Primary Ciliary Dyskinesia is DNAH5 (Dynein Axonemal Heavy Chain 5). The drugs Azithromycin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include Primitive Streak, lung and brain, and related phenotypes are recurrent respiratory infections and respiratory system

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.  

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.

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.

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, 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 106)
# Related Disease Score Top Affiliating Genes
1 situs inversus 28.1 ARMC4 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5
2 ciliary dyskinesia, primary, 1 27.0 ARMC4 CCDC114 CCDC40 CFAP298 DNAAF1 DNAAF2
3 kartagener syndrome 24.6 ARMC4 CCDC114 CCDC39 CCDC40 CCDC65 CFAP298
4 congenital disorder of glycosylation, type ic 12.3
5 pseudohypoparathyroidism, type ic 12.3
6 cutis laxa, autosomal recessive, type ic 12.1
7 glycogen storage disease ic 12.1
8 interstitial cystitis 12.1
9 neuropathy, hereditary sensory and autonomic, type ic 12.1
10 usher syndrome, type ic 12.1
11 amelogenesis imperfecta, type ic 12.0
12 ciliary dyskinesia, primary, 23 12.0
13 ciliary dyskinesia, primary, 25 12.0
14 lymphedema, hereditary, ic 12.0
15 ciliary dyskinesia, primary, 9 12.0
16 ciliary dyskinesia, primary, 35 12.0
17 ciliary dyskinesia, primary, 14 11.9
18 ciliary dyskinesia, primary, 15 11.9
19 ciliary dyskinesia, primary, 16 11.9
20 ciliary dyskinesia, primary, 17 11.9
21 ciliary dyskinesia, primary, 19 11.9
22 ciliary dyskinesia, primary, 20 11.9
23 ciliary dyskinesia, primary, 21 11.9
24 ciliary dyskinesia, primary, 26 11.9
25 ciliary dyskinesia, primary, 27 11.9
26 ciliary dyskinesia, primary, 28 11.9
27 ciliary dyskinesia, primary, 24 11.9
28 ciliary dyskinesia, primary, 3 11.9
29 ciliary dyskinesia, primary, 7 11.9
30 ciliary dyskinesia, primary, 2 11.9
31 ciliary dyskinesia, primary, 5 11.9
32 ciliary dyskinesia, primary, 10 11.9
33 ciliary dyskinesia, primary, 11 11.9
34 ciliary dyskinesia, primary, 12 11.9
35 ciliary dyskinesia, primary, 13 11.9
36 ciliary dyskinesia, primary, 18 11.9
37 ciliary dyskinesia, primary, 22 11.9
38 ciliary dyskinesia, primary, 29 11.9
39 ciliary dyskinesia, primary, 30 11.9
40 ciliary dyskinesia, primary, 33 11.9
41 ciliary dyskinesia, primary, 34 11.9
42 isolated focal cortical dysplasia type ic 11.9
43 iridocorneal endothelial syndrome 11.9
44 ciliary dyskinesia, primary, 32 11.9
45 ciliary dyskinesia, primary, 4 11.8
46 ciliary dyskinesia, primary, 8 11.8
47 ciliary dyskinesia, primary, 6 11.8
48 ciliary dyskinesia, primary, 37 11.8
49 alg6-congenital disorder of glycosylation 11.7
50 stromme syndrome 11.7

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 respiratory system MP:0005388 9.28 ARMC4 CCDC39 CCDC40 DNAAF2 DNAAF3 DNAH11

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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Azithromycin Approved Phase 3 83905-01-5 55185 447043
2 Pharmaceutical Solutions Phase 2
Nitric Oxide Approved ,Not Applicable 10102-43-9 145068 160954
Menthol Approved Not Applicable 2216-51-5 16666
5 Anti-Asthmatic Agents ,Not Applicable
6 Antioxidants ,Not Applicable
7 Autonomic Agents ,Not Applicable
8 Bronchodilator Agents ,Not Applicable
9 Endothelium-Dependent Relaxing Factors ,Not Applicable
10 Neurotransmitter Agents ,Not Applicable
11 Peripheral Nervous System Agents ,Not Applicable
12 Protective Agents ,Not Applicable
13 Respiratory System Agents ,Not Applicable
14 Vasodilator Agents ,Not Applicable
15 Albuterol
16 Liver Extracts
17 Antibodies
18 Antibodies, Monoclonal
19 Immunoglobulins

Interventional clinical trials:

(show all 38)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Active, not recruiting NCT02531984 Phase 3 Azithromycin
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Active, not recruiting 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 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
21 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
22 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
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 High Resolution Micro OCT Imaging Recruiting NCT03256773
26 Natural History of Bronchiectasis Recruiting NCT00943514
27 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
28 Observational Study of Characteristics, Treatment and Outcomes With Severe Asthma in the United States (CHRONICLE) Recruiting NCT03373045
29 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
30 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
31 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
32 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
33 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
34 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
35 Infant Nasal Nitric Oxide Levels in Congenital Heart Disease Terminated NCT02551107 Not Applicable
36 Evaluation of the Safety of the Medical Device Simeox® Terminated NCT02061852 Not Applicable
37 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356 Not Applicable
38 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, Brain, Uterus, Ovary, Testes, Heart, Liver
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 566)
# Title Authors Year
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 )
Diagnosis of Primary Ciliary Dyskinesia. An Official American Thoracic Society Clinical Practice Guideline. ( 29905515 )
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. ( 28176794 )
Should transmission electron microscopy and ultrastructural cilia evaluation remain part of the diagnostic work-up for primary ciliary dyskinesia? ( 28925796 )
Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. ( 28894478 )
Primary Ciliary Dyskinesia: Ready for Quality of Life Assessment. ( 29404155 )
Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics. ( 28922056 )
Primary Ciliary Dyskinesia. ( 28250080 )
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review. ( 28859703 )
Value of transmission electron microscopy for primary ciliary dyskinesia diagnosis in the era of molecular medicine: Genetic defects with normal and non-diagnostic ciliary ultrastructure. ( 28915070 )
[Polypous pansinusitis with the deformation of the external nose in a 8 year-old child presenting with the primary ciliary dyskinesia syndrome]. ( 29072668 )
Diagnosis of primary ciliary dyskinesia: When and how? ( 28501546 )
A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia. ( 28232410 )
Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis. ( 29081265 )
The patient's experience of primary ciliary dyskinesia: a systematic review. ( 28361274 )
Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia. ( 28344781 )
Nasal Nitric Oxide Measurement and a Modified PICADAR Score for the Screening of Primary Ciliary Dyskinesia in Adults with Bronchiectasis. ( 28783864 )
Primary ciliary dyskinesia ciliated airwayA cells show increased susceptibility to Haemophilus influenzae biofilm formation. ( 28890436 )
Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia. ( 28483130 )
Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia. ( 28947038 )
Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. ( 27935903 )
The time is right for an international primary ciliary dyskinesia disease registry. ( 28052961 )
Clinical care of children with primary ciliary dyskinesia. ( 28745925 )
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. ( 28790179 )
Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy. ( 28925789 )
Primary Ciliary Dyskinesia Diagnosis. Is Color Better Than Black and White? ( 28665204 )
Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines. ( 29116124 )
Quality of Life Questionnaire for Turkish Patients with Primary Ciliary Dyskinesia. ( 29404153 )

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:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.93 ARMC4 CCDC114 CCDC40 CFAP298 DNAAF1 DNAH11
2 microtubule GO:0005874 9.78 DNAH11 DNAH5 DNAI1 DNAI2
3 cilium GO:0005929 9.77 ARMC4 CCDC114 CCDC39 CCDC40 CFAP298 DNAAF1
4 motile cilium GO:0031514 9.73 DNAAF5 DNAH11 RSPH4A RSPH9
5 dynein complex GO:0030286 9.71 DNAH11 DNAH5 DNAI1 DNAI2
6 outer dynein arm GO:0036157 9.56 CCDC114 DNAH5 DNAI1 DNAI2
7 9+2 motile cilium GO:0097729 9.54 DNAH11 DNAH5 RSPH9
8 axoneme GO:0005930 9.36 ARMC4 CCDC114 CCDC39 CCDC40 CCDC65 DNAAF1
9 cytoplasm GO:0005737 10.33 ARMC4 CCDC40 CFAP298 DNAAF1 DNAAF2 DNAAF3
10 cytoskeleton GO:0005856 10.02 ARMC4 CFAP298 DNAAF1 DNAH11 DNAH5 DNAI1

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.96 CCDC65 CFAP298 DNAAF1 DNAH5 DNAI2
2 cell projection organization GO:0030030 9.92 ARMC4 DNAAF3 DNAAF5 DNAI1 DNAI2
3 flagellated sperm motility GO:0030317 9.91 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1 LRRC6
4 microtubule-based movement GO:0007018 9.88 DNAH11 DNAH5 DNAI1 DNAI2
5 determination of left/right symmetry GO:0007368 9.85 ARMC4 DNAH11 DNAH5 DNAI1 DNAI2
6 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.8 CCDC39 CCDC40 DNAAF1 DNAH11 LRRC6
7 inner dynein arm assembly GO:0036159 9.8 CCDC39 CCDC40 DNAAF1 DNAAF5 LRRC6 ZMYND10
8 lung development GO:0030324 9.77 CCDC39 CCDC40 DNAAF1
9 regulation of cilium beat frequency GO:0003356 9.77 ARMC4 CCDC39 CCDC40 DNAAF1 DNAH11
10 cilium movement GO:0003341 9.77 ARMC4 CCDC114 CCDC39 CCDC40 DNAAF1 DNAAF5
11 heart looping GO:0001947 9.76 CCDC39 CCDC40 DNAAF1
12 axonemal dynein complex assembly GO:0070286 9.73 CCDC39 CCDC40 CCDC65 DNAAF1 DNAAF2 DNAAF3
13 axoneme assembly GO:0035082 9.72 CCDC40 RSPH4A RSPH9
14 cilium-dependent cell motility GO:0060285 9.71 CCDC39 CCDC65 DNAAF2
15 motile cilium assembly GO:0044458 9.7 CCDC39 CCDC40 DNAAF1 DNAAF3 LRRC6 RSPH9
16 determination of digestive tract left/right asymmetry GO:0071907 9.69 CCDC39 CCDC40 DNAAF1
17 determination of liver left/right asymmetry GO:0071910 9.67 CCDC39 CCDC40 DNAAF1
18 determination of pancreatic left/right asymmetry GO:0035469 9.65 CCDC39 CCDC40 DNAAF1
19 epithelial cilium movement GO:0003351 9.6 CCDC40 DNAI1
20 regulation of cilium movement GO:0003352 9.57 CCDC65 CFAP298
21 outer dynein arm assembly GO:0036158 9.28 ARMC4 CCDC114 DNAAF1 DNAAF5 DNAH5 DNAI1

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

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.54 DNAH11 DNAH5 DNAI2
2 motor activity GO:0003774 9.46 DNAH11 DNAH5 DNAI1 DNAI2
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.43 DNAI1 DNAI2
4 dynein light intermediate chain binding GO:0051959 9.4 DNAH11 DNAH5
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH11 DNAH5
6 dynein heavy chain binding GO:0045504 9.26 DNAI1 DNAI2
7 dynein intermediate chain binding GO:0045505 9.13 DNAAF5 DNAH11 DNAH5
8 dynein light chain binding GO:0045503 8.92 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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