ICS
MCID: PRM011
MIFTS: 56

Primary Ciliary Dyskinesia (ICS) malady

Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases, Cancer diseases categories

Summaries for Primary Ciliary Dyskinesia

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9Disease Ontology, 22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 kartagener syndrome 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 Cytoplasmic microtubules. Affiliated tissues include lung, brain and testes, and related mouse phenotypes are cardiovascular system and respiratory system.

Disease Ontology:9 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:22 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:66 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

Description from OMIM:48 611884, 612444, 244400, 610852, 613193 608644, 612649, 612518, 612650 more

GeneReviews summary for pcd

Aliases & Classifications for Primary Ciliary Dyskinesia

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9Disease Ontology, 20GeneReviews, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 63UMLS, 21GeneTests, 23GTR, 59SNOMED-CT, 48OMIM, 36MeSH, 41NCIt
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Classifications:



Aliases & Descriptions:

primary ciliary dyskinesia 9 20 44 22 11
ciliary dyskinesia primary 44 21 23
immotile cilia syndrome 20 44 22
ciliary motility disorders 63
polynesian bronchiectasis 44
immotile ciliary syndrome 9
cliary motility disorder 9
kartagener syndrome 63
ics 44
pcd 22


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Disease Ontology9 DOID:9562
SNOMED-CT59 86204009, 9057007
MeSH36 D002925
NCIt41 C84638

Related Diseases for Primary Ciliary Dyskinesia

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18GeneCards, 19GeneDecks
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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 217)
idRelated DiseaseScoreTop Affiliating Genes
1kartagener syndrome31.0DNAI1, DNAH5
2situs inversus30.8DNAI1, RSPH9, DNAH11, DNAI2, DNAH5
3cystic fibrosis10.7
4bronchiectasis10.6
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
15congenital disorder of glycosylation type 1c10.5
16retinitis pigmentosa10.4
17congenital heart disease10.4
18otitis media10.4
19retinitis10.4
20sinusitis10.4
21chronic interstitial cystitis10.4
22encephalitis10.4
23pneumonia10.3
24primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.3
25primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia10.3
26primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia10.3
27primary ciliary dyskinesia 410.3
28primary ciliary dyskinesia 810.3
29primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia10.3
30primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia10.3
31primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia10.3
32primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia10.3
33primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia10.3
34primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia10.3
35primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia10.3
36ciliary dyskinesia, primary, 2210.3
37ciliary dyskinesia, primary, 3, with or without situs inversus10.3
38ciliary dyskinesia, primary, 1210.3
39ciliary dyskinesia, primary, 1110.3
40ciliary dyskinesia, primary, 1810.3
41ciliary dyskinesia, primary, 7, with or without situs inversus10.3
42ciliary dyskinesia, primary, 610.3
43ciliary dyskinesia, primary, 1910.3
44ciliary dyskinesia, primary, 1010.3
45ciliary dyskinesia, primary, 510.3
46ciliary dyskinesia, primary, 1310.3
47ciliary dyskinesia, primary, 9, with or without situs inversus10.3
48ciliary dyskinesia, primary, 210.3
49congenital disorder of glycosylation10.3
50venezuelan equine encephalitis10.3

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



Diseases related to primary ciliary dyskinesia

Symptoms for Primary Ciliary Dyskinesia

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48OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Primary Ciliary Dyskinesia

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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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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21GeneTests, 23GTR
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Genetic tests related to Primary Ciliary Dyskinesia:

id Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia21 23 RSPH9
2 Primary Ciliary Dyskinesia Multi-Gene Panels21

Anatomical Context for Primary Ciliary Dyskinesia

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34MalaCards
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MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

34
Lung, Brain, Testes, Heart, Skeletal muscle, Colon

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.1HYDIN, DNAI1, DNAH5, DNAH11
2MP:00053887.8HYDIN, DNAI1, DNAH5, DNAH11

Publications for Primary Ciliary Dyskinesia

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53PubMed
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Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 359)
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
Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? (24081772)
2013
3
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. (23993197)
2013
4
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (23849778)
2013
5
Cyanosis when head turned to left in an infant with primary ciliary dyskinesia. (22431414)
2013
6
Up to date on primary ciliary dyskinesia in children. (23973004)
2013
7
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. (23815669)
2013
8
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. (24150548)
2013
9
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. (23527195)
2013
10
Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? (22232363)
2012
11
Managing upper respiratory tract complications of primary ciliary dyskinesia in children. (22157161)
2012
12
Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. (22771515)
2012
13
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (22387996)
2012
14
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. (22135026)
2012
15
Cardiopulmonary assessment in primary ciliary dyskinesia. (22121832)
2012
16
Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. (21273388)
2011
17
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. (20513915)
2010
18
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. (19840971)
2010
19
Primary ciliary dyskinesia demonstrating atypical presentation of Kartagener's syndrome. (20720372)
2010
20
Primary ciliary dyskinesia--an underdiagnosed entity. (21510469)
2010
21
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. (19675306)
2010
22
Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review. (19796826)
2009
23
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. (19948909)
2009
24
Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings. (19660117)
2009
25
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (19357118)
2009
26
Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. (18187313)
2008
27
Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. (17698172)
2008
28
Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. (17548739)
2007
29
Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype. (17272866)
2007
30
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (16627867)
2006
31
Movement: the emerging genetics of primary ciliary dyskinesia. (16822932)
2006
32
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics. (16203616)
2005
33
Absence of nexin links as a possible cause of primary ciliary dyskinesia. (12746204)
2003
34
Primary ciliary dyskinesia. (12390901)
2002
35
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. (11110460)
2000
36
Plasma membrane polarity of polymorphonuclear leucocytes from children with primary ciliary dyskinesia. (10849021)
2000
37
Computer-assisted analysis of radial symmetry in human airway epithelial cilia: assessment of congenital ciliary defects in primary ciliary dyskinesia. (10914428)
2000
38
Incidence of primary ciliary dyskinesia in children with recurrent respiratory diseases. (9342982)
1997
39
Treatment of otitis media with effusion in children with primary ciliary dyskinesia. (9298603)
1997
40
Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. (8630555)
1996
41
Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. (7735615)
1995
42
Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. (8066563)
1994
43
Primary ciliary dyskinesia (the immotile cilia syndrome). (7998657)
1994
44
Primary Ciliary Dyskinesia (20301301)
1993
45
Primary ciliary dyskinesia in the dog. (1643316)
1992
46
Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects. (2738166)
1989
47
Chronic pneumonia in a child with primary ciliary dyskinesia. (3258715)
1988
48
Upper airway manifestations of primary ciliary dyskinesia. (4056588)
1985
49
Nasal cilia in normal man, primary ciliary dyskinesia and other respiratory diseases: analysis of motility and ultrastructure. (6225660)
1983
50
Nose-, sinus- and ear-symptoms in 27 patients with primary ciliary dyskinesia. (6604651)
1983

Variations for Primary Ciliary Dyskinesia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Primary Ciliary Dyskinesia:

1
id Gene Name Type Significance SNP ID Assembly Location
1DNAI1NM_001184940.1(FAM219A): c.-792dupduplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
2DNAI1NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser)single nucleotide variantPathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
3DNAI1NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp)single nucleotide variantPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
4DNAI1NM_012144.3(DNAI1): c.2001+1G> Asingle nucleotide variantPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466

Expression for genes affiliated with Primary Ciliary Dyskinesia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Primary Ciliary Dyskinesia

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

Pathways for genes affiliated with Primary Ciliary Dyskinesia

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51PathCards, 13EMD Millipore, 61Thomson Reuters
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Pathways related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Neurofilaments61
8.2DNAI1, DNAH5, DNAI2, DNAH11

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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17Gene Ontology
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Cellular components related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.6HYDIN, DNAI1
2axonemeGO:0059309.4DNAI2, RSPH9
3axonemal dynein complexGO:0058588.6DNAH5, DNAI2, DNAH11
4microtubuleGO:0058748.1DNAH11, DNAI2, DNAH5, DNAI1

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

idNameGO IDScoreTop Affiliating Genes
1microtubule-based movementGO:0070189.0DNAH5, DNAH11
2metabolic processGO:0081528.9DNAI1, DNAH5, DNAI2
3cilium or flagellum-dependent cell motilityGO:0015398.7DNAH5, DNAH11

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.0DNAH5, DNAH11
2microtubule motor activityGO:0037778.3DNAH5, DNAI2, DNAH11

Products for genes affiliated with Primary Ciliary Dyskinesia

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Sources for Primary Ciliary Dyskinesia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
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38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet