ICS
MCID: PRM011
MIFTS: 53

Primary Ciliary Dyskinesia (ICS) malady

Summaries for Primary Ciliary Dyskinesia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: Primary Ciliary Dyskinesia, also known as ciliary dyskinesia primary, is related to bronchiectasis and situs inversus. An important gene associated with Primary Ciliary Dyskinesia is RSPH9 (radial spoke head 9 homolog (Chlamydomonas)), and among its related pathways is Cytoskeleton remodeling Neurofilaments. Affiliated tissues include lung, brain and testes, and related mouse phenotype respiratory system.

Disease Ontology:8 An autosomal recessive genetic disease that causes a defect in the action of the cilia lining the respiratory tract (lower and upper, sinuses, eustachian tube, middle ear) and fallopian tube.

Genetics Home Reference:21 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:63 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

Description from OMIM:46 244400, 611884, 610852, 612649, 608644 612518, 613193, 612650, 612444 more

GeneReviews summary for pcd

Aliases & Classifications for Primary Ciliary Dyskinesia

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8Disease Ontology, 19GeneReviews, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 20GeneTests, 22GTR, 60UMLS, 56SNOMED-CT, 34MeSH, 46OMIM, 39NCIt
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Aliases & Descriptions:

primary ciliary dyskinesia 8 19 42 21 10
ciliary dyskinesia primary 42 20 22
immotile cilia syndrome 19 42 21
ciliary motility disorders 60
immotile ciliary syndrome 8
polynesian bronchiectasis 42
cliary motility disorder 8
kartagener syndrome 60
pcd 21
ics 42


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Disease Ontology8 DOID:9562
MeSH34 D002925
SNOMED-CT56 86204009, 9057007
NCIt39 C84638

Related Diseases for Primary Ciliary Dyskinesia

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17GeneCards, 18GeneDecks
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Diseases in the Ciliary Dyskinesia, Primary, 19 family:

primary ciliary dyskinesia Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules
Primary Ciliary Dyskinesia 4 Primary Ciliary Dyskinesia 8
Ciliary Dyskinesia, Primary, 21 Ciliary Dyskinesia, Primary, 22
Ciliary Dyskinesia, Primary, 14 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 18
Ciliary Dyskinesia, Primary, 6 Ciliary Dyskinesia, Primary, 28
Ciliary Dyskinesia, Primary, 23 Ciliary Dyskinesia, Primary, 27
Ciliary Dyskinesia, Primary, 10 Ciliary Dyskinesia, Primary, 16
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 5
Ciliary Dyskinesia, Primary, 13 Ciliary Dyskinesia, Primary, 17
Ciliary Dyskinesia, Primary, 15 Ciliary Dyskinesia, Primary, 20
Ciliary Dyskinesia, Primary, 2 Ciliary Dyskinesia, Primary, 26
Ciliary Dyskinesia, Primary, 24

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

(show top 50)    (show all 209)
idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis30.9DNAI1
2situs inversus30.9DNAI2, DNAI1, DPCD, CCDC39, DNAH11, DNAH5
3kartagener syndrome30.6DNAH5, DNAI1
4cystic fibrosis10.7
5hydrocephalus10.5
6immotile cilia syndrome, due to defective radial spokes10.5
7primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia10.5
8primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia10.5
9primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia10.5
10primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia10.5
11primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia10.5
12primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia10.5
13primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia10.5
14ciliary dyskinesia, primary, 1, with or without situs inversus10.5
15retinitis pigmentosa10.4
16otitis media10.4
17retinitis10.4
18chronic interstitial cystitis10.4
19congenital disorder of glycosylation10.3
20encephalitis10.3
21pneumonia10.3
22primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.3
23primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia10.3
24primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia10.3
25primary ciliary dyskinesia 410.3
26primary ciliary dyskinesia 810.3
27primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia10.3
28primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia10.3
29primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia10.3
30primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia10.3
31primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia10.3
32primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia10.3
33primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia10.3
34ciliary dyskinesia, primary, 2210.3
35ciliary dyskinesia, primary, 3, with or without situs inversus10.3
36ciliary dyskinesia, primary, 1210.3
37ciliary dyskinesia, primary, 1110.3
38ciliary dyskinesia, primary, 1810.3
39ciliary dyskinesia, primary, 7, with or without situs inversus10.3
40ciliary dyskinesia, primary, 610.3
41ciliary dyskinesia, primary, 1910.3
42ciliary dyskinesia, primary, 1010.3
43ciliary dyskinesia, primary, 510.3
44ciliary dyskinesia, primary, 1310.3
45ciliary dyskinesia, primary, 9, with or without situs inversus10.3
46ciliary dyskinesia, primary, 210.3
47venezuelan equine encephalitis10.3
48leukemia10.3
49congenital disorder of glycosylation type 1c10.3
50ciliary dyskinesia with excessively long cilia10.3

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



Diseases related to primary ciliary dyskinesia

Clinical Features for Primary Ciliary Dyskinesia

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46OMIM
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Clinical features from OMIM:

244400,611884,610852,612649,608644,612518,613193,612650,612444

Drugs & Therapeutics for Primary Ciliary Dyskinesia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Primary Ciliary Dyskinesia

Drug clinical trials:

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Search NIH Clinical Center for Primary Ciliary Dyskinesia

Search CenterWatch for Primary Ciliary Dyskinesia

Genetic Tests for Primary Ciliary Dyskinesia

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20GeneTests, 22GTR
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Genetic tests related to Primary Ciliary Dyskinesia:

id Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia20 22 RSPH9
2 Primary Ciliary Dyskinesia Multi-Gene Panels20

Anatomical Context for Primary Ciliary Dyskinesia

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32MalaCards
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MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

32
Lung, Brain, Testes, Heart, Skeletal muscle, Colon

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538810.0HYDIN, DNAH5, DNAH11, DNAI1, DPCD, CCDC39

Publications for Primary Ciliary Dyskinesia

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50PubMed
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Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 364)
idTitleAuthorsYear
1
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. (24369140)
2014
2
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. (23993197)
2013
3
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. (23815669)
2013
4
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. (24150548)
2013
5
Primary ciliary dyskinesia complicated with diffuse panbronchiolitis: a case report and literature review. (24308375)
2013
6
Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. (23255504)
2013
7
Aerobic fitness in children and young adults with primary ciliary dyskinesia. (23977038)
2013
8
Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. (24055112)
2013
9
Rapid diagnosis of primary ciliary dyskinesia: cell culture and soft computing analysis. (22903970)
2013
10
New adenylate kinase 7 (AK7) mutation in primary ciliary dyskinesia. (22801010)
2012
11
Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia. (22416021)
2012
12
Chest CTs in primary ciliary dyskinesia: not too few, but not too many! (22570095)
2012
13
Diagnostic yield of nasal scrape biopsies in primary ciliary dyskinesia: A multicenter experience. (21284095)
2011
14
ENT manifestations in patients with primary ciliary dyskinesia: prevalence and significance of otorhinolaryngologic co-morbidities. (20652291)
2011
15
Diagnostic value of nasal nitric oxide measured with non-velum closure techniques for children with primary ciliary dyskinesia. (21514598)
2011
16
Primary Ciliary Dyskinesia in Children: A Review for Pediatricians, Allergists, and Pediatric Pulmonologists. (22276227)
2011
17
Skeletal muscle metabolism in cystic fibrosis and primary ciliary dyskinesia. (20938370)
2011
18
Factors influencing age at diagnosis of primary ciliary dyskinesia in European children. (20530032)
2010
19
Nasal nitric oxide and pulmonary radioaerosol mucociliary clearance as supplementary tools in diagnosis of primary ciliary dyskinesia. (20682136)
2010
20
Lung function in patients with primary ciliary dyskinesia: a cross-sectional and 3-decade longitudinal study. (20167855)
2010
21
High prevalence of primary ciliary dyskinesia in a British Asian population. (19720631)
2010
22
Primary ciliary dyskinesia in Amish communities. (20350728)
2010
23
Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. (19770168)
2009
24
Mini-symposium: primary ciliary dyskinesia. (19410199)
2009
25
Primary ciliary dyskinesia: improving the diagnostic approach. (19300264)
2009
26
Primary ciliary dyskinesia: when to suspect the diagnosis and how to confirm it. (19410200)
2009
27
Primary ciliary dyskinesia: Myths and realities. (19436518)
2008
28
Primary ciliary dyskinesia in the paediatric population: range and severity of radiological findings in a cohort of patients receiving tertiary care. (17765464)
2007
29
Genetic causes of bronchiectasis: primary ciliary dyskinesia. (17534128)
2007
30
Movement: the emerging genetics of primary ciliary dyskinesia. (16822932)
2006
31
Nasal nitric oxide to diagnose primary ciliary dyskinesia in newborns. (16632655)
2006
32
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients. (15845866)
2005
33
Correlation between cough frequency and airway inflammation in children with primary ciliary dyskinesia. (15806596)
2005
34
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia. (15126740)
2004
35
Loci for primary ciliary dyskinesia map to chromosome 16p12.1-12.2 and 15q13.1-15.1 in Faroe Islands and Israeli Druze genetic isolates. (14985390)
2004
36
Primary ciliary dyskinesia as a cause of neonatal respiratory distress: implications for the neonatologist. (14647169)
2003
37
Primary ciliary dyskinesia. (16088581)
2003
38
Comparison of exhaled and nasal nitric oxide and exhaled carbon monoxide levels in bronchiectatic patients with and without primary ciliary dyskinesia. (12511725)
2003
39
Computer-assisted analysis of radial symmetry in human airway epithelial cilia: assessment of congenital ciliary defects in primary ciliary dyskinesia. (10914428)
2000
40
Neonatal respiratory distress syndrome--a sign of primary ciliary dyskinesia? (11079202)
2000
41
Airway response of children with primary ciliary dyskinesia to exercise and beta2-agonist challenge. (9657584)
1998
42
Treatment of otitis media with effusion in children with primary ciliary dyskinesia. (9298603)
1997
43
Primary Ciliary Dyskinesia (20301301)
1993
44
Atypical basal bodies in the oviductal mucosa (ampulla) of gilts with primary ciliary dyskinesia (PCD). (2282642)
1990
45
Pulmonary permeability in primary ciliary dyskinesia. (2651149)
1989
46
Primary ciliary dyskinesia: evaluation and management. (3050841)
1988
47
Brain dysfunction in primary ciliary dyskinesia? (3218442)
1988
48
Primary ciliary dyskinesia in the dog. (3506090)
1987
49
Nose-, sinus- and ear-symptoms in 27 patients with primary ciliary dyskinesia. (6604651)
1983
50
Primary and secondary ciliary dyskinesia. (6603737)
1983

Genetic Variations for Primary Ciliary Dyskinesia

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Expression for genes affiliated with Primary Ciliary Dyskinesia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Ciliary Dyskinesia

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Pathways for genes affiliated with Primary Ciliary Dyskinesia

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12EMD Millipore
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Pathways related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.2DNAH5, DNAH11, DNAI2, DNAI1

Compounds for genes affiliated with Primary Ciliary Dyskinesia

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GO Terms for genes affiliated with Primary Ciliary Dyskinesia

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16Gene Ontology
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Cellular components related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1motile ciliumGO:03151410.3RSPH9, RSPH4A
2axonemal dynein complexGO:00585810.3DNAI2, DNAH11, DNAH5
3ciliumGO:00592910.2CCDC114, DNAI1, PCDP1, LRRC6
4microtubuleGO:00587410.1DNAH5, DNAH11, DNAI2, DNAI1
5cilium axonemeGO:0350859.9CCDC39, CCDC103, DNAI1, DNAI2, RSPH4A, RSPH9
6cytoskeletonGO:0058569.9CCDC39, DNAI1, RSPH9, RSPH4A

Biological processes related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1ciliary cell motilityGO:06028510.6DNAAF2, CCDC39
2motile cilium assemblyGO:04445810.6DNAAF1, LRRC6, DNAAF3
3inner dynein arm assemblyGO:03615910.5DNAAF1, CCDC103, LRRC6
4cilium axoneme assemblyGO:03508310.5RSPH9, RSPH4A
5left/right pattern formationGO:06097210.5DPCD, DNAAF1
6determination of pancreatic left/right asymmetryGO:03546910.5CCDC39, DNAAF1
7determination of digestive tract left/right asymmetryGO:07190710.5CCDC103, CCDC39, DNAAF1
8outer dynein arm assemblyGO:03615810.5LRRC6, CCDC103, CCDC114, DNAAF1
9heart loopingGO:00194710.5DNAAF1, CCDC103, CCDC39
10determination of liver left/right asymmetryGO:07191010.5DNAAF1, CCDC39
11epithelial cilium movement involved in determination of left/right asymmetryGO:06028710.5LRRC6, CCDC39, DNAAF1, CCDC103
12epithelial cilium movementGO:00335110.4DNAI1, DPCD
13ciliary or bacterial-type flagellar motilityGO:00153910.4DNAH5, DNAH11
14axonemal dynein complex assemblyGO:07028610.4DNAAF3, DNAAF1, DNAAF2, CCDC39, CCDC103
15cilium movementGO:00334110.3RSPH9, CCDC103, DNAAF1, PCDP1, LRRC6, RSPH4A
16cell projection organizationGO:03003010.3CCDC103, DNAI1
17cilium morphogenesisGO:06027110.3PCDP1, DNAAF1
18sperm motilityGO:03031710.2LRRC6, DPCD
19determination of left/right symmetryGO:00736810.0DNAH11, DPCD

Molecular functions related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00377710.3DNAH5, DNAH11, DNAI2

Products for genes affiliated with Primary Ciliary Dyskinesia

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Sources for Primary Ciliary Dyskinesia

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3CDC
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25ICD10
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27ICD9CM
28IUPHAR
29KEGG
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40NDF-RT
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