ICS
MCID: PRM011
MIFTS: 54

Primary Ciliary Dyskinesia (ICS) malady

Summaries for Primary Ciliary Dyskinesia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 bronchiectasis. 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 brain, lung and whole blood, 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:64 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

Description from OMIM:47 244400, 611884, 610852, 612649, 608644 612518, 613193, 612650, 612444 more

GeneReviews summary for pcd

Aliases & Classifications for Primary Ciliary Dyskinesia

Sources:
8Disease Ontology, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 10DISEASES, 61UMLS, 57SNOMED-CT, 35MeSH, 47OMIM, 40NCIt
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Aliases & Descriptions:

primary ciliary dyskinesia 8 19 43 21 10
ciliary dyskinesia primary 43 20 22
immotile cilia syndrome 19 43 21
ciliary motility disorders 61
polynesian bronchiectasis 43
immotile ciliary syndrome 8
cliary motility disorder 8
kartagener syndrome 61
pcd 21
ics 43


External Ids:

Disease Ontology8 DOID:9562
MeSH35 D002925
SNOMED-CT57 86204009, 9057007
NCIt40 C84638

Related Diseases for Primary Ciliary Dyskinesia

Sources:
17GeneCards, 18GeneDecks
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Diseases in the ciliary dyskinesia, primary, 19 family:

primary ciliary dyskinesia ciliary dyskinesia with excessively long cilia
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, 3, with or without situs inversus ciliary dyskinesia, primary, 12
ciliary dyskinesia, primary, 11 ciliary dyskinesia, primary, 18
ciliary dyskinesia, primary, 7, with or without situs inversus ciliary dyskinesia, primary, 6
ciliary dyskinesia, primary, 28 ciliary dyskinesia, primary, 1, with or without situs inversus
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, 9, with or without situs inversus 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 200)
idRelated DiseaseScoreTop Affiliating Genes
1kartagener syndrome31.2DNAH5, DNAI1
2bronchiectasis30.9DNAI1
3situs inversus30.9DNAI2, DNAI1, DPCD, CCDC39, DNAH11, DNAH5
4cystic fibrosis10.7
5ciliary dyskinesia-bronchiectasis10.6
6immotile cilia syndrome, due to defective radial spokes10.5
7n syndrome10.5
8primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia10.5
9primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia10.5
10primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia10.5
11primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia10.5
12primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia10.5
13primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia10.5
14primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia10.5
15ciliary dyskinesia, primary, 1, with or without situs inversus10.5
16retinitis pigmentosa10.4
17chronic interstitial cystitis10.4
18primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.3
19primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia10.3
20primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia10.3
21primary ciliary dyskinesia 410.3
22primary ciliary dyskinesia 810.3
23primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia10.3
24primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia10.3
25primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia10.3
26primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia10.3
27primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia10.3
28primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia10.3
29primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia10.3
30ciliary dyskinesia, primary, 3, with or without situs inversus10.3
31ciliary dyskinesia, primary, 1210.3
32ciliary dyskinesia, primary, 1110.3
33ciliary dyskinesia, primary, 1810.3
34ciliary dyskinesia, primary, 7, with or without situs inversus10.3
35ciliary dyskinesia, primary, 610.3
36ciliary dyskinesia, primary, 1910.3
37ciliary dyskinesia, primary, 1010.3
38ciliary dyskinesia, primary, 1610.3
39ciliary dyskinesia, primary, 510.3
40ciliary dyskinesia, primary, 1310.3
41ciliary dyskinesia, primary, 9, with or without situs inversus10.3
42ciliary dyskinesia, primary, 1510.3
43ciliary dyskinesia, primary, 2010.3
44ciliary dyskinesia, primary, 210.3
45sinusitis10.3
46venezuelan equine encephalitis10.3
47congenital disorder of glycosylation type 1c10.3
48iridocorneal endothelial syndrome10.3
49infertility10.3
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

Sources:
47OMIM
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Clinical features from OMIM:

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

Drugs & Therapeutics for Primary Ciliary Dyskinesia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Primary Ciliary Dyskinesia

Drug clinical trials:

Search ClinicalTrials for Primary Ciliary Dyskinesia

Search NIH Clinical Center for Primary Ciliary Dyskinesia

Search CenterWatch for Primary Ciliary Dyskinesia

Genetic Tests for Primary Ciliary Dyskinesia

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

33
Brain, Lung, Whole blood, Heart, Skeletal muscle, Colon, T cells, Bronchial epithelium

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538810.0HYDIN, DNAH5, DNAH11, DNAI1, DPCD, CCDC39

Publications for Primary Ciliary Dyskinesia

Sources:
51PubMed
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Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 364)
idTitleAuthorsYear
1
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm. (24203976)
2014
2
Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? (24081772)
2013
3
Up to date on primary ciliary dyskinesia in children. (23973004)
2013
4
Acute hypoxemia in a parturient with primary ciliary dyskinesia following the administration of intravenous oxytocin: a case report. (24092478)
2013
5
Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. (24094744)
2013
6
Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. (23798057)
2013
7
Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. (23261302)
2013
8
Primary ciliary dyskinesia. (23362165)
2013
9
Nasal nitric oxide is an important test in the diagnostic pathway for primary ciliary dyskinesia. (24364768)
2013
10
Ciliated cultures from patients with primary ciliary dyskinesia do not produce nitric oxide or inducible nitric oxide synthase during early infection. (24189859)
2013
11
Loss-of-function mutations in CCDC114 cause primary ciliary dyskinesia. (23506398)
2013
12
Primary ciliary dyskinesia presentation in 60 children according to ciliary ultrastructure. (23571820)
2013
13
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. (23891469)
2013
14
Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. (22771515)
2012
15
Cardiopulmonary assessment in primary ciliary dyskinesia. (22121832)
2012
16
Congenital problems of mucociliary clearance: primary ciliary dyskinesia. (23181248)
2012
17
Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. (22184204)
2011
18
The challenges of diagnosing primary ciliary dyskinesia. (21926395)
2011
19
Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. (21270641)
2011
20
Choice of nasal nitric oxide technique as first-line test for primary ciliary dyskinesia. (20525709)
2011
21
Gene expression studies in cells from primary ciliary dyskinesia patients identify 208 potential ciliary genes. (21136274)
2011
22
Optic nerve projections in patients with primary ciliary dyskinesia. (21508109)
2011
23
Questionnaire to preselect patients with a high probability of primary ciliary dyskinesia. (20862631)
2011
24
Diagnostic testing of patients suspected of primary ciliary dyskinesia. (19910612)
2010
25
Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review. (19796826)
2009
26
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities. (19200523)
2009
27
Management of primary ciliary dyskinesia: the lower airways. (19410202)
2009
28
Nasal nitric oxide for early diagnosis of familial primary ciliary dyskinesia. (18426950)
2008
29
Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia. (18037990)
2007
30
Primary ciliary dyskinesia: current state of the art. (17634184)
2007
31
Primary ciliary dyskinesia in a Staffordshire bull terrier. (15628808)
2004
32
Nasal nitric oxide is low early in life: case study of two infants with primary ciliary dyskinesia. (15516684)
2004
33
Nasal nitric oxide measurements to screen children for primary ciliary dyskinesia. (15486363)
2004
34
Optimal biopsy techniques in the diagnosis of primary ciliary dyskinesia. (11881766)
2002
35
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus. (11912187)
2002
36
Mutations in DNAI1 (IC78) cause primary ciliary dyskinesia. (11893720)
2002
37
Plasma membrane polarity of polymorphonuclear leucocytes from children with primary ciliary dyskinesia. (10849021)
2000
38
Diagnostic approach to primary ciliary dyskinesia: a review. (10653339)
2000
39
The effect of regular salbutamol on lung function and bronchial responsiveness in patients with primary ciliary dyskinesia. (10669686)
2000
40
Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia. (10577904)
1999
41
DNase treatment in primary ciliary dyskinesia--assessment by nocturnal pulse oximetry. (10023793)
1999
42
Primary ciliary dyskinesia: diagnosis and standards of care. (9817179)
1998
43
Effect of arginine on mucociliary function in primary ciliary dyskinesia. (9717932)
1998
44
Incidence of primary ciliary dyskinesia in children with recurrent respiratory diseases. (9342982)
1997
45
Immunohistochemical analysis of rat and human respiratory cilia with anti-dynein antibody: comparison between normal cilia and pathological cilia in primary ciliary dyskinesia. (8548125)
1995
46
Primary ciliary dyskinesia. (1457181)
1992
47
Chronic pneumonia in a child with primary ciliary dyskinesia. (3258715)
1988
48
Nasal cilia in normal man, primary ciliary dyskinesia and other respiratory diseases: analysis of motility and ultrastructure. (6225660)
1983
49
Quantitative estimation of goblet cell density of the nose in patients with Kartagener's syndrome (primary ciliary dyskinesia). (6604653)
1983
50
Primary ciliary dyskinesia. (6115234)
1981

Genetic Variations for Primary Ciliary Dyskinesia

Expression for genes affiliated with Primary Ciliary Dyskinesia

Sources:
1BioGPS, 15Gene 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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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
Hide members
10.2DNAH5, DNAH11, DNAI2, DNAI1

Compounds for genes affiliated with Primary Ciliary Dyskinesia

GO Terms for genes affiliated with Primary Ciliary Dyskinesia

Sources:
16Gene Ontology
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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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Sources for Primary Ciliary Dyskinesia

3CDC
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23HGMD
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25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
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48OMIM via Orphanet
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58SNOMED-CT via Orphanet
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