ICS
MCID: PRM011
MIFTS: 53

Primary Ciliary Dyskinesia (ICS) malady

Summaries for Primary Ciliary Dyskinesia

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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 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, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 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
polynesian bronchiectasis 42
immotile ciliary syndrome 8
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:

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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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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
Overcoming challenges in the management of primary ciliary dyskinesia: The UK model. (23764568)
2013
2
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. (23796196)
2013
3
Impact of cilia ultrastructural examination on the diagnosis of primary ciliary dyskinesia. (23815741)
2013
4
Significance of fractional exhaled nitric oxide measurements in detecting primary ciliary dyskinesia in Saudi children. (23299155)
2013
5
Managing upper respiratory tract complications of primary ciliary dyskinesia in children. (22157161)
2012
6
From a single whole exome read to notions of clinical screening: primary ciliary dyskinesia and RSPH9 p.Lys268del in the Arabian Peninsula. (22384920)
2012
7
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry. (23022101)
2012
8
Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia. (23040496)
2012
9
Quantitative analysis of ciliary beating in primary ciliary dyskinesia: a pilot study. (23057704)
2012
10
Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. (21273388)
2011
11
Mechanisms of mammalian ciliary motility: Insights from primary ciliary dyskinesia genetics. (21111794)
2011
12
Primary ciliary dyskinesia: evaluation using cilia beat frequency assessment via spectral analysis of digital microscopy images. (21551013)
2011
13
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. (20513915)
2010
14
Primary ciliary dyskinesia that responded to long-term, low-dose clarithromycin. (20647663)
2010
15
Cilia motility and structure in primary and secondary ciliary dyskinesia. (20537282)
2010
16
Ciliated air-liquid cultures as an aid to diagnostic testing of primary ciliary dyskinesia. (20616212)
2010
17
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. (19948909)
2009
18
Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings. (19660117)
2009
19
Rhinosinusitis, symptomatology & absence of polyposis in children with primary ciliary dyskinesia. (19382500)
2009
20
Can pentoxifylline improve the sperm motion and ICSI success in the primary ciliary dyskinesia? (18461343)
2009
21
Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1. (18039845)
2008
22
Ectopic pregnancy in primary ciliary dyskinesia. (18569496)
2008
23
Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. (18026660)
2007
24
Diagnosing primary ciliary dyskinesia. (17687094)
2007
25
Nasal nitric oxide in atypical primary ciliary dyskinesia. (17356106)
2007
26
Congenital heart disease and other heterotaxic defects in a large cohort of patients with primary ciliary dyskinesia. (17515466)
2007
27
Primary ciliary dyskinesia and newborn respiratory distress. (17142159)
2006
28
Impairment of nitric oxide output of conducting airways in primary ciliary dyskinesia. (16353174)
2006
29
Mucus properties in children with primary ciliary dyskinesia: comparison with cystic fibrosis. (16424421)
2006
30
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics. (16203616)
2005
31
Hearing outcomes in children with primary ciliary dyskinesia--a longitudinal study. (16005347)
2005
32
Central microtubular agenesis causing primary ciliary dyskinesia. (14982824)
2004
33
Aspirin intolerance in boy with primary ciliary dyskinesia. (12622751)
2003
34
Ciliary beat pattern is associated with specific ultrastructural defects in primary ciliary dyskinesia. (13679810)
2003
35
Primary ciliary dyskinesia. (12390901)
2002
36
Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. (11788826)
2002
37
Identification of the human ortholog of the T-complex-encoded protein TCTE3 and evaluation as a candidate gene for primary ciliary dyskinesia. (12584439)
2002
38
Identification of dynein heavy chain 7 as an inner arm component of human cilia that is synthesized but not assembled in a case of primary ciliary dyskinesia. (11877439)
2002
39
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. (11110460)
2000
40
No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD). (11060460)
2000
41
Primary ciliary dyskinesia. (11082768)
2000
42
Primary ciliary dyskinesia: a genome-wide linkage analysis reveals extensive locus heterogeneity. (10757642)
2000
43
Results of tympanoplasty in children with primary ciliary dyskinesia. (9485109)
1998
44
Primary ciliary dyskinesia in Newfoundland dogs. (9829312)
1998
45
Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. (7735615)
1995
46
Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. (8066563)
1994
47
Microtubular protofilaments and subunits of the outer dynein arm in cilia from dogs with primary ciliary dyskinesia. (2432809)
1987
48
Upper airway manifestations of primary ciliary dyskinesia. (4056588)
1985
49
Primary ciliary dyskinesia. (6476865)
1984
50
Nasal ciliary ultrastructure and function in patients with primary ciliary dyskinesia compared with that in normal subjects and in subjects with various respiratory diseases. (6703474)
1984

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

idNameGO IDScoreTop Affiliating Genes
1motile ciliumGO:03151410.3RSPH4A, RSPH9
2axonemal dynein complexGO:00585810.3DNAH5, DNAH11, DNAI2
3ciliumGO:00592910.2CCDC114, DNAI1, PCDP1, LRRC6
4microtubuleGO:00587410.1DNAH5, DNAH11, DNAI2, DNAI1
5cilium axonemeGO:0350859.9RSPH4A, CCDC39, CCDC103, DNAI1, DNAI2, DNAH11
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:04445810.6LRRC6, DNAAF3, DNAAF1
3inner dynein arm assemblyGO:03615910.5CCDC103, DNAAF1, 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:07190710.5CCDC39, CCDC103, DNAAF1
8outer dynein arm assemblyGO:03615810.5CCDC114, CCDC103, DNAAF1, LRRC6
9heart loopingGO:00194710.5DNAAF1, CCDC103, CCDC39
10determination of liver left/right asymmetryGO:07191010.5CCDC39, DNAAF1
11epithelial cilium movement involved in determination of left/right asymmetryGO:06028710.5LRRC6, DNAAF1, CCDC103, CCDC39
12epithelial cilium movementGO:00335110.4DNAI1, DPCD
13ciliary or bacterial-type flagellar motilityGO:00153910.4DNAH5, DNAH11
14axonemal dynein complex assemblyGO:07028610.4CCDC39, CCDC103, DNAAF2, DNAAF1, DNAAF3
15cilium movementGO:00334110.3RSPH4A, RSPH9, LRRC6, PCDP1, DNAAF1, CCDC103
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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