ICS
MCID: PRM011
MIFTS: 57

Primary Ciliary Dyskinesia (ICS) malady

Categories: Rare diseases, Genetic diseases, Neuronal diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Primary Ciliary Dyskinesia

Aliases & Descriptions for Primary Ciliary Dyskinesia:

Name: Primary Ciliary Dyskinesia 38 12 71 23 50 24 25 14
Immotile Cilia Syndrome 23 50 24 25 29
Ciliary Dyskinesia Primary 50 29
Ciliary Motility Disorders 42 69
Pcd 24 25
Ciliary Motility Disorder 12
Immotile Ciliary Syndrome 12
Polynesian Bronchiectasis 50
Kartagener Syndrome 69
Ics 50

Classifications:



External Ids:

Disease Ontology 12 DOID:9562
MeSH 42 D002925
NCIt 47 C84638
SNOMED-CT 64 86204009 9057007
UMLS 69 C0008780

Summaries for Primary Ciliary Dyskinesia

NIH Rare Diseases : 50 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

MalaCards based summary : Primary Ciliary Dyskinesia, also known as immotile cilia syndrome, is related to primary ciliary dyskinesia 35 and primary ciliary dyskinesia 34, and has symptoms including recurrent respiratory infections An important gene associated with Primary Ciliary Dyskinesia is RSPH9 (Radial Spoke Head 9 Homolog). 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 : 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.

Wikipedia : 71 Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare,... more...

GeneReviews: NBK1122

Related Diseases for Primary Ciliary Dyskinesia

Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 31 Ciliary Dyskinesia, Primary, 21
Ciliary Dyskinesia, Primary, 22 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 32
Ciliary Dyskinesia, Primary, 18 Ciliary Dyskinesia, Primary, 6
Ciliary Dyskinesia, Primary, 28 Ciliary Dyskinesia, Primary, 19
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 27
Ciliary Dyskinesia, Primary, 10 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 4 Ciliary Dyskinesia, Primary, 25
Ciliary Dyskinesia, Primary, 8 Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 17
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 30
Ciliary Dyskinesia, Primary, 20 Ciliary Dyskinesia, Primary, 2
Ciliary Dyskinesia, Primary, 26 Ciliary Dyskinesia, Primary, 24
Primary Ciliary Dyskinesia 34 Primary Ciliary Dyskinesia 33
Primary Ciliary Dyskinesia 35 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 184)
id Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 35 12.3
2 primary ciliary dyskinesia 34 12.3
3 primary ciliary dyskinesia 33 12.3
4 congenital disorder of glycosylation, type ic 12.2
5 primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia 12.1
6 primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia 12.1
7 primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia 12.1
8 primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia 12.1
9 primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia 12.1
10 primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia 12.1
11 primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia 12.1
12 immotile cilia syndrome, due to defective radial spokes 12.1
13 pseudohypoparathyroidism ic 12.1
14 primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia 12.0
15 cutis laxa, autosomal recessive, type ic 12.0
16 kartagener syndrome 12.0
17 primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia 12.0
18 primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia 12.0
19 primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia 12.0
20 primary ciliary dyskinesia21: drc1-related primary ciliary dyskinesia 12.0
21 primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia 12.0
22 primary ciliary dyskinesia28: spag1-related primary ciliary dyskinesia 12.0
23 primary ciliary dyskinesia18: dnaaf5-related primary ciliary dyskinesia 12.0
24 primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia 12.0
25 primary ciliary dyskinesia20: ccdc114-related primary ciliary dyskinesia 12.0
26 primary ciliary dyskinesia22: zmynd10-related primary ciliary dyskinesia 12.0
27 primary ciliary dyskinesia23: armc4-related primary ciliary dyskinesia 12.0
28 primary ciliary dyskinesia24: rsph1-related primary ciliary dyskinesia 12.0
29 primary ciliary dyskinesia25: dnaaf4-related primary ciliary dyskinesia 12.0
30 primary ciliary dyskinesia26: c21orf59-related primary ciliary dyskinesia 12.0
31 primary ciliary dyskinesia27: ccdc65-related primary ciliary dyskinesia 12.0
32 primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia 12.0
33 primary ciliary dyskinesia29: ccno-related primary ciliary dyskinesia 12.0
34 primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia 12.0
35 primary ciliary dyskinesia30: ccdc151-related primary ciliary dyskinesia 12.0
36 primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia 12.0
37 ciliary dyskinesia, primary, 1, with or without situs inversus 11.9
38 neuropathy, hereditary sensory and autonomic, type ic 11.9
39 interstitial cystitis 11.9
40 glycogen storage disease ic 11.9
41 amelogenesis imperfecta, type ic 11.9
42 lymphedema, hereditary, ic 11.9
43 ciliary dyskinesia, primary, 27 11.8
44 ciliary dyskinesia, primary, 15 11.8
45 ciliary dyskinesia, primary, 14 11.8
46 ciliary dyskinesia, primary, 16 11.8
47 ciliary dyskinesia, primary, 20 11.8
48 ciliary dyskinesia, primary, 25 11.8
49 ciliary dyskinesia, primary, 26 11.8
50 ciliary dyskinesia, primary, 21 11.8

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:

32
id Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205

MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 DNAI2 RSPH1 CCDC39 CCDC40 DNAAF2 DNAAF3
2 craniofacial MP:0005382 9.7 CCDC39 CCNO DNAAF1 DNAAF4 DNAH11 DNAH5
3 growth/size/body region MP:0005378 9.7 CCDC39 CCDC40 CCNO DNAAF2 DNAAF3 DNAAF4
4 respiratory system MP:0005388 9.32 DNAI1 DNAI2 CCDC39 CCDC40 CCNO DNAAF2

Drugs & Therapeutics for Primary Ciliary Dyskinesia

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

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

Interventional clinical trials:

(show all 29)
id Name Status NCT ID Phase
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Active, not recruiting NCT02531984 Phase 3
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Recruiting NCT02871778 Phase 2
3 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
4 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
5 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Unknown status NCT01929356
6 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
7 Lateral Rectus Muscle and Anterior Segment Optical Coherence Tomography (AS-OCT) in Two Recession Surgeries Unknown status NCT02450162
8 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
9 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
10 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
11 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
12 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
13 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
14 Determination of Normal Values of Nasal Nitric Oxide in Adults Completed NCT02133547
15 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
16 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
17 Electrical Impedance Tomography of Lung in Child and Young Age Completed NCT02290535
18 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
19 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
20 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
21 Natural History of Bronchiectasis Recruiting NCT00943514
22 Infant Nasal Nitric Oxide Levels in Congenital Heart Disease Recruiting NCT02551107
23 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
24 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
25 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
26 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
27 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
28 Evaluation of the Safety of the Medical Device Simeox® Terminated NCT02061852
29 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:

id Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia 29 24 RSPH9
2 Immotile Cilia 29

Anatomical Context for Primary Ciliary Dyskinesia

MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

39
Lung, Brain, Testes, Heart, Neutrophil, Colon, Skeletal Muscle
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Primary Ciliary Dyskinesia:
id 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 493)
id Title Authors Year
1
The time is right for an international primary ciliary dyskinesia disease registry. ( 28052961 )
2017
2
The patient's experience of primary ciliary dyskinesia: a systematic review. ( 28361274 )
2017
3
The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. ( 28052956 )
2017
4
Hypertonic saline in patients with primary ciliary dyskinesia: on the road to evidence-based treatment for a rare lung disease. ( 28232418 )
2017
5
Primary Ciliary Dyskinesia. ( 28250080 )
2017
6
Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable? ( 28408202 )
2017
7
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia: A Systematic Review and Meta-Analysis. ( 28481653 )
2017
8
A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia. ( 28232410 )
2017
9
Matrix metalloproteinases and airway remodeling and function in primary ciliary dyskinesia. ( 28284321 )
2017
10
How to use nasal nitric oxide in a child with suspected primary ciliary dyskinesia. ( 28495666 )
2017
11
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. ( 27836958 )
2017
12
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. ( 28176794 )
2017
13
Early Diagnosis of Primary Ciliary Dyskinesia: The Role of the Pediatrician. ( 28478721 )
2017
14
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
15
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. ( 28289722 )
2017
16
Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia. ( 28483130 )
2017
17
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. ( 28041644 )
2017
18
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. ( 28199173 )
2017
19
Brush or scratch? Which biopsy is superior for the ultrastructural diagnosis of primary ciliary dyskinesia - A retrospective analysis. ( 28230514 )
2017
20
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
21
Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD). ( 28246220 )
2017
22
Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study. ( 28403885 )
2017
23
Better experimental screening and treatment for primary ciliary dyskinesia: The FP7 BESTCILIA project. ( 28230497 )
2017
24
Diagnosis of primary ciliary dyskinesia: When and how? ( 28501546 )
2017
25
An international registry for primary ciliary dyskinesia. ( 26659107 )
2016
26
A longitudinal study characterising a large adult primary ciliary dyskinesia population. ( 27288033 )
2016
27
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
28
Clinical spectrum of primary ciliary dyskinesia in childhood. ( 26862502 )
2016
29
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. ( 27779714 )
2016
30
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. ( 27486780 )
2016
31
The impact of Primary Ciliary Dyskinesia on the upper respiratory tract. ( 26898410 )
2016
32
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. ( 26918822 )
2016
33
Mutations in GAS8, A Gene Encoding A Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia With Axonemal Disorganization. ( 27120127 )
2016
34
Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy. ( 28479887 )
2016
35
Diagnostic testing in primary ciliary dyskinesia. ( 27581414 )
2016
36
Diagnostic testing in primary ciliary dyskinesia. ( 27581415 )
2016
37
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. ( 26917608 )
2016
38
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. ( 27486783 )
2016
39
Toward an Earlier Diagnosis of Primary Ciliary Dyskinesia. Which Patients Should Undergo Detailed Diagnostic Testing? ( 27258773 )
2016
40
A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia. ( 27619050 )
2016
41
Primary Ciliary Dyskinesia: Ciliary Beat Pattern/Frequency, Role of Molecular Analysis in the Diagnosis, and Neonatal Distress. ( 26761165 )
2016
42
Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfibers. ( 27081490 )
2016
43
Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis. ( 27312809 )
2016
44
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices. ( 27692146 )
2016
45
Primary Ciliary Dyskinesia. ( 27514592 )
2016
46
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. ( 27070726 )
2016
47
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. ( 27637300 )
2016
48
The dangers of widespread nitric oxide screening for primary ciliary dyskinesia. ( 26896442 )
2016
49
Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. ( 27492829 )
2016
50
Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts. ( 27878633 )
2016

Variations for Primary Ciliary Dyskinesia

ClinVar genetic disease variations for Primary Ciliary Dyskinesia:

6 (show top 50) (show all 106)
id Gene Variation Type Significance SNP ID Assembly Location
1 RSPH4A NM_001010892.2(RSPH4A): c.460C> T (p.Gln154Ter) single nucleotide variant Pathogenic rs118204041 GRCh37 Chromosome 6, 116938246: 116938246
2 RSPH4A NM_001010892.2(RSPH4A): c.325C> T (p.Gln109Ter) single nucleotide variant Pathogenic rs118204042 GRCh37 Chromosome 6, 116938111: 116938111
3 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
4 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
5 CCDC39 NM_181426.1(CCDC39): c.357+1G> C single nucleotide variant Pathogenic rs397515392 GRCh37 Chromosome 3, 180379648: 180379648
6 CCDC40 NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs) deletion Pathogenic rs397515393 GRCh37 Chromosome 17, 78013765: 78013765
7 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
8 DNAH11 NM_001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter) single nucleotide variant Pathogenic rs368260932 GRCh37 Chromosome 7, 21789320: 21789320
9 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
10 DNAH5 NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs) deletion Pathogenic rs397515540 GRCh37 Chromosome 5, 13753399: 13753399
11 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
12 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh37 Chromosome 21, 43906573: 43906573
13 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
14 DNAAF4 NM_130810.3(DNAAF4): c.808C> T (p.Arg270Ter) single nucleotide variant Pathogenic rs397515621 GRCh37 Chromosome 15, 55731755: 55731755
15 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Pathogenic/Likely pathogenic rs863223325 GRCh37 Chromosome 12, 49312537: 49312538
16 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh37 Chromosome 6, 116944168: 116944171
17 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh38 Chromosome 5, 55233272: 55233276
18 DNAAF1 NC_000016.9: g.(?_84178865)_(84211524_?)del deletion Pathogenic GRCh37 Chromosome 16, 84178865: 84211524
19 CCDC39 NM_181426.1(CCDC39): c.526_527delCT (p.Leu176Alafs) deletion Pathogenic rs780175755 GRCh37 Chromosome 3, 180377547: 180377548
20 DNAH5 NM_001369.2(DNAH5): c.8998C> T (p.Arg3000Ter) single nucleotide variant Pathogenic rs769054713 GRCh38 Chromosome 5, 13777309: 13777309
21 CCDC39 NM_181426.1(CCDC39): c.1644delT (p.Asp548Glufs) deletion Pathogenic rs863224531 GRCh38 Chromosome 3, 180644141: 180644141
22 CCDC39 NM_181426.1(CCDC39): c.610-2A> G single nucleotide variant Pathogenic rs756235547 GRCh38 Chromosome 3, 180659582: 180659582
23 DNAH5 NM_001369.2(DNAH5): c.13126-2A> C single nucleotide variant Pathogenic rs863224503 GRCh37 Chromosome 5, 13708446: 13708446
24 DNAH5 NM_001369.2(DNAH5): c.9502C> T (p.Arg3168Ter) single nucleotide variant Pathogenic rs863224504 GRCh38 Chromosome 5, 13770852: 13770852
25 CCDC40 NM_017950.3(CCDC40): c.961C> T (p.Arg321Ter) single nucleotide variant Pathogenic rs754867753 GRCh38 Chromosome 17, 80050085: 80050085
26 CCDC40 NM_017950.3(CCDC40): c.3097A> T (p.Lys1033Ter) single nucleotide variant Pathogenic rs863224519 GRCh38 Chromosome 17, 80097320: 80097320
27 DNAH5 NM_001369.2(DNAH5): c.(?_-1)_(*1_?)del deletion Pathogenic
28 DNAH5 NM_001369.2(DNAH5): c.6335_6336insT (p.Gln2112Hisfs) insertion Pathogenic rs779506456 GRCh38 Chromosome 5, 13829618: 13829619
29 DNAH5 NM_001369.2(DNAH5): c.5557A> T (p.Lys1853Ter) single nucleotide variant Pathogenic rs748618094 GRCh37 Chromosome 5, 13841167: 13841167
30 DNAH5 NM_001369.2(DNAH5): c.5281C> T (p.Arg1761Ter) single nucleotide variant Pathogenic rs148891849 GRCh37 Chromosome 5, 13842004: 13842004
31 DNAH5 NM_001369.2(DNAH5): c.4605dupT (p.Ile1536Tyrfs) duplication Pathogenic rs864622512 GRCh38 Chromosome 5, 13862739: 13862739
32 DNAH5 NM_001369.2(DNAH5): c.9365delT (p.Leu3122Terfs) deletion Pathogenic rs1060501460 GRCh38 Chromosome 5, 13776447: 13776447
33 DNAH5 NM_001369.2(DNAH5): c.6249G> A (p.Met2083Ile) single nucleotide variant Pathogenic/Likely pathogenic rs753614861 GRCh37 Chromosome 5, 13830135: 13830135
34 DNAH11 NM_001277115.1(DNAH11): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs72657316 GRCh37 Chromosome 7, 21658796: 21658796
35 DNAH11 NM_001277115.1(DNAH11): c.6244C> T (p.Arg2082Ter) single nucleotide variant Pathogenic rs200693106 GRCh37 Chromosome 7, 21742391: 21742391
36 DNAI1 NM_012144.3(DNAI1): c.336delC (p.Asp114Thrfs) deletion Pathogenic rs876657683 GRCh37 Chromosome 9, 34489395: 34489395
37 DNAI2 NM_023036.4(DNAI2): c.1304G> A (p.Trp435Ter) single nucleotide variant Pathogenic rs752924362 GRCh38 Chromosome 17, 74309345: 74309345
38 CCDC40 NM_017950.3(CCDC40): c.940-2A> G single nucleotide variant Pathogenic rs750708201 GRCh37 Chromosome 17, 78023861: 78023861
39 CCDC39 NM_181426.1(CCDC39): c.1073_1076delCAAA (p.Thr358Asnfs) deletion Pathogenic rs878855279 GRCh37 Chromosome 3, 180369280: 180369283
40 CCDC39 NM_181426.1(CCDC39): c.830_831delCA (p.Thr277Argfs) deletion Pathogenic rs773801386 GRCh37 Chromosome 3, 180372649: 180372650
41 CCDC39 NM_181426.1(CCDC39): c.163_164delAT (p.Met55Aspfs) deletion Pathogenic rs878855280 GRCh37 Chromosome 3, 180381701: 180381702
42 DNAH5 NM_001369.2(DNAH5): c.10384C> T (p.Gln3462Ter) single nucleotide variant Pathogenic rs571919972 GRCh37 Chromosome 5, 13758990: 13758990
43 DNAH5 NM_001369.2(DNAH5): c.8029C> T (p.Arg2677Ter) single nucleotide variant Pathogenic rs775946081 GRCh37 Chromosome 5, 13793819: 13793819
44 DNAH5 NM_001369.2(DNAH5): c.7034G> A (p.Trp2345Ter) single nucleotide variant Pathogenic rs755596256 GRCh37 Chromosome 5, 13814910: 13814910
45 DNAH5 NM_001369.2(DNAH5): c.6508dupA (p.Arg2170Lysfs) duplication Pathogenic rs878854458 GRCh38 Chromosome 5, 13824270: 13824270
46 DNAH5 NM_001369.2(DNAH5): c.5114+1G> C single nucleotide variant Pathogenic rs878854457 GRCh37 Chromosome 5, 13850760: 13850760
47 DNAH5 NM_001369.2(DNAH5): c.3291dupA (p.Pro1098Thrfs) duplication Pathogenic rs762081081 GRCh38 Chromosome 5, 13876789: 13876789
48 DNAH11 NM_001277115.1(DNAH11): c.3122G> A (p.Trp1041Ter) single nucleotide variant Pathogenic rs878854441 GRCh37 Chromosome 7, 21640415: 21640415
49 DNAH11 NM_001277115.1(DNAH11): c.4438C> T (p.Arg1480Ter) single nucleotide variant Pathogenic rs72657321 GRCh38 Chromosome 7, 21620016: 21620016
50 DNAH11 NM_001277115.1(DNAH11): c.4621C> T (p.Arg1541Ter) single nucleotide variant Pathogenic rs757013900 GRCh38 Chromosome 7, 21635991: 21635991

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)
id Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.89 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 sperm flagellum GO:0036126 9.65 DNAI2 RPGR RSPH1
6 axonemal dynein complex GO:0005858 9.63 DNAH5 DNAH8 DNAI2
7 outer dynein arm GO:0036157 9.56 CCDC114 DNAH5 DNAI1 DNAI2
8 axoneme GO:0005930 9.28 CCDC103 CCDC114 CCDC39 CCDC40 DNAAF1 DNAH5
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 21)
id Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 9.97 CCNO DNAAF1 DNAH5 DNAI2 RPGR
2 cilium movement GO:0003341 9.97 CCDC103 CCDC114 CCDC39 CCDC40 DNAAF1 DNAAF4
3 flagellated sperm motility GO:0030317 9.91 CCDC39 CCDC40 DNAH11 DNAH5 DNAI1
4 determination of left/right symmetry GO:0007368 9.91 CCDC39 DNAAF4 DNAH11 DNAH5 DNAI1 DNAI2
5 heart development GO:0007507 9.88 CCDC39 DNAH11 DNAH5 DNAI1
6 heart looping GO:0001947 9.86 CCDC103 CCDC39 CCDC40 DNAAF1
7 axoneme assembly GO:0035082 9.8 CCDC40 RSPH1 RSPH4A RSPH9
8 motile cilium assembly GO:0044458 9.8 CCDC39 CCDC40 DNAAF1 DNAAF3 RSPH9 ZMYND10
9 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.78 CCDC103 CCDC39 CCDC40 DNAAF1
10 lung development GO:0030324 9.77 CCDC39 CCDC40 DNAAF1
11 microtubule-based movement GO:0007018 9.76 DNAH11 DNAH5 DNAH8
12 axonemal dynein complex assembly GO:0070286 9.73 CCDC103 CCDC39 CCDC40 DNAAF1 DNAAF2 DNAAF3
13 cilium-dependent cell motility GO:0060285 9.72 CCDC39 DNAAF2 DNAH8
14 determination of liver left/right asymmetry GO:0071910 9.71 CCDC39 CCDC40 DNAAF1
15 determination of digestive tract left/right asymmetry GO:0071907 9.71 CCDC103 CCDC39 CCDC40 DNAAF1
16 determination of pancreatic left/right asymmetry GO:0035469 9.7 CCDC39 CCDC40 DNAAF1
17 regulation of cilium beat frequency GO:0003356 9.67 CCDC39 CCDC40 DNAAF1 DNAH11
18 outer dynein arm assembly GO:0036158 9.61 CCDC103 CCDC114 DNAAF1 DNAAF4 DNAAF5 DNAH5
19 epithelial cilium movement GO:0003351 9.59 CCDC40 DNAI1
20 inner dynein arm assembly GO:0036159 9.17 CCDC103 CCDC39 CCDC40 DNAAF1 DNAAF4 DNAAF5
21 cell projection organization GO:0030030 10 CCDC103 CCNO DNAAF3 DNAAF5 DNAI1 DNAI2

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

id Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.26 DNAH11 DNAH5 DNAH8 DNAI2
2 motor activity GO:0003774 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
28 GO
29 GTR
30 HGMD
31 HMDB
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33 ICD10
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70 UMLS via Orphanet
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