MCID: PRM011
MIFTS: 57

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 37 12 72 72 23 49 24 36 28 14 59
Immotile Cilia Syndrome 23 49 24
Ciliary Motility Disorders 41 69
Ciliary Dyskinesia Primary 49
Polynesian Bronchiectasis 49
Ciliary Motility Disorder 12
Immotile Ciliary Syndrome 12
Kartagener Syndrome 69
Pcd 24
Ics 49

Classifications:



External Ids:

Disease Ontology 12 DOID:9562
MeSH 41 D002925
NCIt 46 C84638
SNOMED-CT 64 86204009 9057007
KEGG 36 H00564
UMLS 69 C0008780

Summaries for Primary Ciliary Dyskinesia

PubMed Health : 59
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 kartagener syndrome and ciliary dyskinesia, primary, 1, and has symptoms including recurrent respiratory infections and headache. An important gene associated with Primary Ciliary Dyskinesia is DNAAF5 (Dynein Axonemal Assembly Factor 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 cellular and craniofacial

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 : 24 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 : 49 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.   Last updated: 5/10/2011

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 112)
# Related Disease Score Top Affiliating Genes
1 kartagener syndrome 32.3 CCDC103 CCDC114 CCDC39 CCDC40 CCNO DNAAF1
2 ciliary dyskinesia, primary, 1 31.7 CCDC103 CCDC114 CCDC39 CCDC40 CCNO DNAAF1
3 situs inversus 30.4 CCDC39 CCDC40 DNAAF1 DNAH11 DNAH5 DNAI1
4 congenital disorder of glycosylation, type ic 12.3
5 pseudohypoparathyroidism, type ic 12.3
6 interstitial cystitis 12.1
7 cutis laxa, autosomal recessive, type ic 12.1
8 usher syndrome, type ic 12.1
9 neuropathy, hereditary sensory and autonomic, type ic 12.0
10 ciliary dyskinesia, primary, 23 12.0
11 ciliary dyskinesia, primary, 25 12.0
12 ciliary dyskinesia, primary, 9 12.0
13 ciliary dyskinesia, primary, 35 12.0
14 amelogenesis imperfecta, type ic 12.0
15 glycogen storage disease ic 12.0
16 lymphedema, hereditary, ic 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, 3 11.9
28 ciliary dyskinesia, primary, 7 11.9
29 ciliary dyskinesia, primary, 2 11.9
30 ciliary dyskinesia, primary, 5 11.9
31 ciliary dyskinesia, primary, 10 11.9
32 ciliary dyskinesia, primary, 11 11.9
33 ciliary dyskinesia, primary, 12 11.9
34 ciliary dyskinesia, primary, 13 11.9
35 ciliary dyskinesia, primary, 18 11.9
36 ciliary dyskinesia, primary, 22 11.9
37 ciliary dyskinesia, primary, 24 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 ciliary dyskinesia, primary, 32 11.9
44 ciliary dyskinesia, primary, 4 11.8
45 iridocorneal endothelial syndrome 11.8
46 ciliary dyskinesia, primary, 8 11.8
47 ciliary dyskinesia, primary, 6 11.8
48 alg6-congenital disorder of glycosylation 11.7
49 stromme syndrome 11.7
50 retinitis pigmentosa, x-linked, and sinorespiratory infections, with or without deafness 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:

31
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 hallmark (90%) HP:0002205

UMLS symptoms related to Primary Ciliary Dyskinesia:


headache

MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 DNAH5 CCDC39 DNAI1 CCDC40 DNAI2 RSPH1
2 craniofacial MP:0005382 9.7 DNAH5 CCDC39 DNAI1 CCNO DNAAF1 DNAAF4
3 growth/size/body region MP:0005378 9.7 DNAH5 CCDC39 DNAI1 CCDC40 DNAI2 RSPH1
4 respiratory system MP:0005388 9.32 CCDC39 DNAI1 CCDC40 DNAI2 CCNO DNAAF2

Drugs & Therapeutics for Primary Ciliary Dyskinesia

PubMedHealth treatment related to Primary Ciliary Dyskinesia: 59

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 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 53477736 447043 55185
2 Pharmaceutical Solutions Phase 2
3
Nitric Oxide Approved 10102-43-9 145068
4
Menthol Approved 2216-51-5 16666
5 Anti-Asthmatic Agents
6 Antioxidants
7 Autonomic Agents
8 Bronchodilator Agents
9 Endothelium-Dependent Relaxing Factors
10 Neurotransmitter Agents
11 Peripheral Nervous System Agents
12 Protective Agents
13 Respiratory System Agents
14 Vasodilator Agents
15 Albuterol
16 Liver Extracts

Interventional clinical trials:

(show all 34)

# 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 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
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 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
21 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
22 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
23 High Resolution Micro OCT Imaging Recruiting NCT03256773
24 Natural History of Bronchiectasis Recruiting NCT00943514
25 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
26 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
27 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
28 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
29 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
30 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
31 Infant Nasal Nitric Oxide Levels in Congenital Heart Disease Terminated NCT02551107
32 Evaluation of the Safety of the Medical Device Simeox® Terminated NCT02061852
33 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356
34 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

Genetic tests related to Primary Ciliary Dyskinesia:

# Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia 28 DNAAF5

Anatomical Context for Primary Ciliary Dyskinesia

MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

38
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 533)
# Title Authors Year
1
No evidence of cholesteatoma in untreated otitis media with effusion in children with primary ciliary dyskinesia. ( 29447810 )
2018
2
Primary Ciliary Dyskinesia Due to Microtubular Defects is Associated with Worse Lung Clearance Index. ( 29368042 )
2018
3
Gas exchanges in children with cystic fibrosis or primary ciliary dyskinesia: A retrospective study. ( 29366817 )
2018
4
Hearing loss in children with primary ciliary dyskinesia. ( 29287859 )
2018
5
Are inhaled corticosteroids prescribed rationally in primary ciliary dyskinesia? ( 29439021 )
2018
6
Primary ciliary dyskinesia: keep it on your radar. ( 29133352 )
2018
7
Computed tomography in adult patients with primary ciliary dyskinesia: Typical imaging findings. ( 29408869 )
2018
8
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 )
2018
9
Diagnostic yield of a targeted gene panel in primary ciliary dyskinesia patients. ( 29363216 )
2018
10
Nasal Nitric Oxide Measurement and a Modified PICADAR Score for the Screening of Primary Ciliary Dyskinesia in Adults with Bronchiectasis. ( 28783864 )
2017
11
Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association. ( 29122913 )
2017
12
Diagnosis of primary ciliary dyskinesia: summary of the ERS Task Force report. ( 28894478 )
2017
13
Matrix metalloproteinases and airway remodeling and function in primary ciliary dyskinesia. ( 28284321 )
2017
14
"Infertility in an adult cohort with primary ciliary dyskinesia: phenotype-gene association." Gert Jan Vanaken, Laurence Bassinet, Mieke Boon, Rahma Mani, Isabelle HonorAc, Jean-Francois Papon, Harry Cuppens, Martine Jaspers, Natalie Lorent, AndrAc Coste, Estelle Escudier, Serge Amselem, Bernard Maitre, Marie Legendre and Sophie Christin-Maitre.<i>Eur Respir J</i>2017; 50: 1700314. ( 29242267 )
2017
15
Secondary defects detected by transmission electron microscopy in primary ciliary dyskinesia diagnostics. ( 28922056 )
2017
16
How to use nasal nitric oxide in a child with suspected primary ciliary dyskinesia. ( 28495666 )
2017
17
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review. ( 28859703 )
2017
18
An effective combination of whole-exome sequencing and runs of homozygosity for the diagnosis of primary ciliary dyskinesia in consanguineous families. ( 28801648 )
2017
19
Motile cilia defects in diseases other than primary ciliary dyskinesia: The contemporary diagnostic and research role for transmission electron microscopy. ( 28925789 )
2017
20
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. ( 28289722 )
2017
21
Clinical care of children with primary ciliary dyskinesia. ( 28745925 )
2017
22
High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. ( 28790179 )
2017
23
Haemophilus influenzae biofilms in primary ciliary dyskinesia: a moving story. ( 28890441 )
2017
24
Primary Ciliary Dyskinesia. ( 28250080 )
2017
25
Diagnosis of primary ciliary dyskinesia: When and how? ( 28501546 )
2017
26
Quality of Life Questionnaire for Turkish Patients with Primary Ciliary Dyskinesia. ( 29404153 )
2017
27
The time is right for an international primary ciliary dyskinesia disease registry. ( 28052961 )
2017
28
Clinical impact of Pseudomonas aeruginosa colonization in patients with Primary Ciliary Dyskinesia. ( 28947038 )
2017
29
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia: A Systematic Review and Meta-Analysis. ( 28481653 )
2017
30
Analysis of Otologic Features of Patients With Primary Ciliary Dyskinesia. ( 29135867 )
2017
31
Hypertonic saline in patients with primary ciliary dyskinesia: on the road to evidence-based treatment for a rare lung disease. ( 28232418 )
2017
32
Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable? ( 28408202 )
2017
33
Monocytes from patients with Primary Ciliary Dyskinesia show enhanced inflammatory properties and produce higher levels of pro-inflammatory cytokines. ( 29116124 )
2017
34
Bacterial infections in patients with primary ciliary dyskinesia: Comparison with cystic fibrosis. ( 29081265 )
2017
35
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. ( 28649564 )
2017
36
Clinical care for primary ciliary dyskinesia: current challenges and future directions. ( 28877972 )
2017
37
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 )
2017
38
Early Diagnosis of Primary Ciliary Dyskinesia: The Role of the Pediatrician. ( 28478721 )
2017
39
A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia. ( 28232410 )
2017
40
Primary Ciliary Dyskinesia: Ready for Quality of Life Assessment. ( 29404155 )
2017
41
Growth and nutritional status, and their association with lung function: a study from the international Primary Ciliary Dyskinesia Cohort. ( 29269581 )
2017
42
The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. ( 28052956 )
2017
43
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. ( 28041644 )
2017
44
A targeted next-generation sequencing panel reveals novel mutations in Japanese patients with primary ciliary dyskinesia. ( 28939216 )
2017
45
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. ( 28199173 )
2017
46
Chemoattractants and cytokines in primary ciliary dyskinesia and cystic fibrosis: key players in chronic respiratory diseases. ( 29176750 )
2017
47
Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia. ( 28483130 )
2017
48
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
49
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 )
2017
50
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. ( 28176794 )
2017

Variations for Primary Ciliary Dyskinesia

ClinVar genetic disease variations for Primary Ciliary Dyskinesia:

6 (show top 50) (show all 203)
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC39 NM_181426.1(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh37 Chromosome 3, 180379648: 180379648
2 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh37 Chromosome 17, 78013765: 78013765
3 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
4 DNAH11 NM_001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter) single nucleotide variant Pathogenic rs368260932 GRCh37 Chromosome 7, 21789320: 21789320
5 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
6 DNAH5 NM_001369.2(DNAH5): c.2261dupT (p.Met754Ilefs) duplication Pathogenic rs672601333 GRCh38 Chromosome 5, 13894820: 13894820
7 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
8 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh37 Chromosome 5, 13753399: 13753399
9 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
10 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
11 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200913791 GRCh37 Chromosome 3, 50379904: 50379904
12 RSPH1 NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs138320978 GRCh37 Chromosome 21, 43913159: 43913159
13 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh37 Chromosome 21, 43906573: 43906573
14 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
15 DNAAF4 NM_130810.3(DNAAF4): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs397515621 GRCh37 Chromosome 15, 55731755: 55731755
16 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Pathogenic/Likely pathogenic rs863223325 GRCh37 Chromosome 12, 49312537: 49312538
17 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh37 Chromosome 6, 116944168: 116944171
18 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh38 Chromosome 5, 55233272: 55233276
19 CCNO NM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs) duplication Pathogenic rs587777499 GRCh38 Chromosome 5, 55233262: 55233266
20 CCNO NM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs) duplication Pathogenic rs587777502 GRCh38 Chromosome 5, 55233257: 55233261
21 DNAH5 NM_001369.2(DNAH5): c.13194_13197delCAGA (p.Asp4398Glufs) deletion Pathogenic/Likely pathogenic rs727502971 GRCh37 Chromosome 5, 13708373: 13708376
22 DNAH5 NM_001369.2(DNAH5): c.9449delG (p.Gly3150Alafs) deletion Pathogenic/Likely pathogenic rs727504802 GRCh38 Chromosome 5, 13770905: 13770905
23 DNAAF1 NC_000016.9: g.(?_84178865)_(84211524_?)del deletion Pathogenic GRCh37 Chromosome 16, 84178865: 84211524
24 CCDC39 NM_181426.1(CCDC39): c.526_527delCT (p.Leu176Alafs) deletion Pathogenic rs780175755 GRCh37 Chromosome 3, 180377547: 180377548
25 DNAH5 NM_001369.2(DNAH5): c.8998C> T (p.Arg3000Ter) single nucleotide variant Pathogenic rs769054713 GRCh38 Chromosome 5, 13777309: 13777309
26 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
27 CCDC40 NM_017950.3(CCDC40): c.3354C> A (p.Tyr1118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs374909386 GRCh37 Chromosome 17, 78073499: 78073499
28 DNAAF1 NM_178452.5(DNAAF1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs267607225 GRCh37 Chromosome 16, 84193349: 84193349
29 DNAAF1 NM_178452.5(DNAAF1): c.508dup (p.Glu170Glyfs) duplication Pathogenic rs786205052 GRCh37 Chromosome 16, 84188337: 84188337
30 RSPH4A NM_001010892.2(RSPH4A): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs118204041 GRCh37 Chromosome 6, 116938246: 116938246
31 RSPH4A NM_001010892.2(RSPH4A): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs118204042 GRCh37 Chromosome 6, 116938111: 116938111
32 RSPH4A NM_001010892.2(RSPH4A): c.1468C> T (p.Arg490Ter) single nucleotide variant Pathogenic rs118204043 GRCh37 Chromosome 6, 116949338: 116949338
33 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
34 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
35 CCDC39 NM_181426.1(CCDC39): c.1644delT (p.Asp548Glufs) deletion Pathogenic rs863224531 GRCh38 Chromosome 3, 180644141: 180644141
36 CCDC39 NM_181426.1(CCDC39): c.610-2A> G single nucleotide variant Pathogenic rs756235547 GRCh38 Chromosome 3, 180659582: 180659582
37 DNAH5 NM_001369.2(DNAH5): c.13126-2A> C single nucleotide variant Pathogenic rs863224503 GRCh38 Chromosome 5, 13708337: 13708337
38 DNAH5 NM_001369.2(DNAH5): c.10616G> A (p.Arg3539His) single nucleotide variant Pathogenic rs769458738 GRCh38 Chromosome 5, 13753489: 13753489
39 DNAH5 NM_001369.2(DNAH5): c.9502C> T (p.Arg3168Ter) single nucleotide variant Pathogenic rs863224504 GRCh38 Chromosome 5, 13770852: 13770852
40 CCDC40 NM_017950.3(CCDC40): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs754867753 GRCh38 Chromosome 17, 80050085: 80050085
41 CCDC40 NM_017950.3(CCDC40): c.3097A> T (p.Lys1033Ter) single nucleotide variant Pathogenic rs863224519 GRCh38 Chromosome 17, 80097320: 80097320
42 DNAH5 NM_001369.2(DNAH5): c.(?_-1)_(*1_?)del deletion Pathogenic
43 DNAH5 NM_001369.2(DNAH5): c.6335_6336insT (p.Gln2112Hisfs) insertion Pathogenic rs779506456 GRCh38 Chromosome 5, 13829618: 13829619
44 DNAH5 NM_001369.2(DNAH5): c.5557A> T (p.Lys1853Ter) single nucleotide variant Pathogenic rs748618094 GRCh38 Chromosome 5, 13841058: 13841058
45 DNAH5 NM_001369.2(DNAH5): c.5281C> T (p.Arg1761Ter) single nucleotide variant Pathogenic rs148891849 GRCh38 Chromosome 5, 13841895: 13841895
46 DNAH5 NM_001369.2(DNAH5): c.4605dupT (p.Ile1536Tyrfs) duplication Pathogenic rs864622512 GRCh38 Chromosome 5, 13862739: 13862739
47 DNAH5 NM_001369.2(DNAH5): c.9365delT (p.Leu3122Terfs) deletion Pathogenic/Likely pathogenic rs1060501460 GRCh38 Chromosome 5, 13776447: 13776447
48 DNAH5 NM_001369.2(DNAH5): c.6249G> A (p.Met2083Ile) single nucleotide variant Pathogenic/Likely pathogenic rs753614861 GRCh38 Chromosome 5, 13830026: 13830026
49 DNAH11 NM_001277115.1(DNAH11): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs72657316 GRCh37 Chromosome 7, 21658796: 21658796
50 DNAH11 NM_001277115.1(DNAH11): c.6244C> T (p.Arg2082Ter) single nucleotide variant Pathogenic rs200693106 GRCh37 Chromosome 7, 21742391: 21742391

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 11)
# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.88 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2
2 motile cilium GO:0031514 9.8 CCDC103 DNAAF5 DNAH11 RSPH1 RSPH4A RSPH9
3 cilium GO:0005929 9.8 CCDC103 CCDC114 CCDC39 CCDC40 DNAAF1 DNAH11
4 dynein complex GO:0030286 9.77 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2
5 outer dynein arm GO:0036157 9.65 CCDC114 DNAH5 DNAH8 DNAI1 DNAI2
6 sperm flagellum GO:0036126 9.63 DNAI2 RPGR RSPH1
7 axonemal dynein complex GO:0005858 9.49 DNAH8 DNAI2
8 axoneme GO:0005930 9.32 CCDC103 CCDC114 CCDC39 CCDC40 DNAAF1 DNAH11
9 cytoplasm GO:0005737 10.38 CCDC103 CCDC39 CCDC40 CCNO DNAAF1 DNAAF2
10 cytoskeleton GO:0005856 10.17 CCDC39 DNAAF1 DNAH11 DNAH5 DNAH8 DNAI1
11 cell projection GO:0042995 10 CCDC103 CCDC114 CCDC39 CCDC40 DNAAF1 DNAH11

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 CCNO DNAAF1 DNAH5 DNAI2 RPGR
2 flagellated sperm motility GO:0030317 9.91 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
3 determination of left/right symmetry GO:0007368 9.91 CCDC39 DNAAF4 DNAH11 DNAH5 DNAI1 DNAI2
4 heart looping GO:0001947 9.86 CCDC103 CCDC39 CCDC40 DNAAF1
5 axoneme assembly GO:0035082 9.8 CCDC40 RSPH1 RSPH4A RSPH9
6 motile cilium assembly GO:0044458 9.8 CCDC39 CCDC40 DNAAF1 DNAAF3 RSPH9 ZMYND10
7 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.78 CCDC103 CCDC39 CCDC40 DNAAF1
8 lung development GO:0030324 9.77 CCDC39 CCDC40 DNAAF1
9 microtubule-based movement GO:0007018 9.76 DNAH11 DNAH5 DNAH8
10 axonemal dynein complex assembly GO:0070286 9.73 CCDC103 CCDC39 CCDC40 DNAAF1 DNAAF2 DNAAF3
11 cilium-dependent cell motility GO:0060285 9.72 CCDC39 DNAAF2 DNAH8
12 determination of liver left/right asymmetry GO:0071910 9.71 CCDC39 CCDC40 DNAAF1
13 determination of digestive tract left/right asymmetry GO:0071907 9.71 CCDC103 CCDC39 CCDC40 DNAAF1
14 determination of pancreatic left/right asymmetry GO:0035469 9.7 CCDC39 CCDC40 DNAAF1
15 regulation of cilium beat frequency GO:0003356 9.67 CCDC39 CCDC40 DNAAF1 DNAH11
16 outer dynein arm assembly GO:0036158 9.65 CCDC103 CCDC114 DNAAF1 DNAAF4 DNAAF5 DNAH5
17 epithelial cilium movement GO:0003351 9.58 CCDC40 DNAI1
18 inner dynein arm assembly GO:0036159 9.17 CCDC103 CCDC39 CCDC40 DNAAF1 DNAAF4 DNAAF5
19 cell projection organization GO:0030030 10 CCDC103 CCNO DNAAF3 DNAAF5 DNAI1 DNAI2
20 cilium movement GO:0003341 10 CCDC103 CCDC114 CCDC39 CCDC40 DNAAF1 DNAAF4

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 9.56 DNAH11 DNAH5 DNAH8 DNAI2
2 motor activity GO:0003774 9.55 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2
3 dynein light intermediate chain binding GO:0051959 9.54 DNAH11 DNAH5 DNAH8
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.5 DNAH11 DNAH5 DNAH8
5 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.43 DNAI1 DNAI2
6 dynein heavy chain binding GO:0045504 9.4 DNAI1 DNAI2
7 dynein intermediate chain binding GO:0045505 9.26 DNAAF5 DNAH11 DNAH5 DNAH8
8 dynein light chain binding GO:0045503 9.02 DNAH11 DNAH5 DNAH8 DNAI1 DNAI2

Sources for Primary Ciliary Dyskinesia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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29 HGMD
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