ICS
MCID: PRM011
MIFTS: 59

Primary Ciliary Dyskinesia (ICS) malady

Genetic diseases, Rare diseases, Reproductive diseases, Respiratory diseases categories
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Summaries for Primary Ciliary Dyskinesia

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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 based summary: 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 DNAI1 (dynein, axonemal, intermediate chain 1), and among its related pathways is Cytoplasmic microtubules. Affiliated tissues include lung, brain and testes, and related mouse phenotypes are immune system and digestive/alimentary.

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:65 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

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

GeneReviews summary for pcd

Aliases & Classifications for Primary Ciliary Dyskinesia

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Primary Ciliary Dyskinesia, Aliases & Descriptions:

Name: Primary Ciliary Dyskinesia 30 8 19 42 21 10
Ciliary Dyskinesia Primary 42 20 22
Immotile Cilia Syndrome 19 42 21
Polynesian Bronchiectasis 42 62
Ciliary Motility Disorders 62
 
Immotile Ciliary Syndrome 8
Cliary Motility Disorder 8
Kartagener Syndrome 62
Pcd 21
Ics 42


Classifications:



External Ids:

Disease Ontology8 DOID:9562
SNOMED-CT57 9057007, 86204009
NCIt39 C84638
MeSH34 D002925

Related Diseases for Primary Ciliary Dyskinesia

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Diseases in the Primary Ciliary Dyskinesia family:

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, 19
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, 30
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 228)
idRelated DiseaseScoreTop Affiliating Genes
1kartagener syndrome31.1DNAI1, DNAH5
2situs inversus30.1DNAI1, DNAI2, RSPH9, CCDC39, DNAH11, DNAH5
3cystic fibrosis10.7
4bronchiectasis10.7
5hydrocephalus10.6
6ciliary dyskinesia, primary, 1, with or without situs inversus10.6
7immotile cilia syndrome, due to defective radial spokes10.5
8congenital disorder of glycosylation type 1c10.5
9primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia10.5
10primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia10.5
11primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia10.5
12primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia10.5
13primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia10.5
14primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia10.5
15primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia10.5
16ciliary dyskinesia with excessively long cilia10.5
17retinitis pigmentosa10.4
18sinusitis10.4
19congenital heart disease10.4
20otitis media10.4
21retinitis10.4
22heterotaxy10.4
23chronic interstitial cystitis10.4
24congenital disorder of glycosylation10.4
25encephalitis10.4
26pneumonia10.4
27primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.4
28primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia10.4
29primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia10.4
30primary ciliary dyskinesia 410.4
31primary ciliary dyskinesia 810.4
32primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia10.4
33primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia10.4
34primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia10.4
35primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia10.4
36primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia10.4
37primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia10.4
38primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia10.4
39ciliary dyskinesia, primary, 2210.4
40ciliary dyskinesia, primary, 3, with or without situs inversus10.4
41ciliary dyskinesia, primary, 1210.4
42ciliary dyskinesia, primary, 1110.4
43ciliary dyskinesia, primary, 1810.4
44ciliary dyskinesia, primary, 7, with or without situs inversus10.4
45ciliary dyskinesia, primary, 610.4
46ciliary dyskinesia, primary, 1010.4
47ciliary dyskinesia, primary, 510.4
48ciliary dyskinesia, primary, 1310.4
49ciliary dyskinesia, primary, 9, with or without situs inversus10.4
50ciliary dyskinesia, primary, 3010.4

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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Clinical features from OMIM:

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

Drugs & Therapeutics for Primary Ciliary Dyskinesia

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Drug clinical trials:

Search ClinicalTrials for Primary Ciliary Dyskinesia

Search NIH Clinical Center for Primary Ciliary Dyskinesia

Genetic Tests for Primary Ciliary Dyskinesia

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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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MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

32
Lung, Brain, Testes, Heart, Neutrophil, Colon

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

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MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053878.3HYDIN, DNAI1, DNAH5, DNAH11, CCDC39
2MP:00053818.0CCDC39, DNAH11, DNAH5, DNAAF2
3MP:00053887.5DNAAF2, HYDIN, DNAI1, DNAH5, DNAH11, CCDC39
4MP:00053857.5HYDIN, CCDC39, DNAAF2, DNAI1, DNAH5, DNAH11
5MP:00053787.4DNAAF2, CCDC39, DNAH11, HYDIN, DNAI1, DNAH5

Publications for Primary Ciliary Dyskinesia

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Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 382)
idTitleAuthorsYear
1
Peripheral Vestibular Dysfunction in Patients with Primary Ciliary Dyskinesia: Abnormal Otoconial Development? (25226371)
2014
2
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. (24369140)
2014
3
Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? (24081772)
2013
4
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. (23993197)
2013
5
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (23849778)
2013
6
Cyanosis when head turned to left in an infant with primary ciliary dyskinesia. (22431414)
2013
7
Up to date on primary ciliary dyskinesia in children. (23973004)
2013
8
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. (23815669)
2013
9
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. (24150548)
2013
10
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. (23527195)
2013
11
Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? (22232363)
2012
12
Managing upper respiratory tract complications of primary ciliary dyskinesia in children. (22157161)
2012
13
Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. (22771515)
2012
14
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (22387996)
2012
15
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. (22135026)
2012
16
Cardiopulmonary assessment in primary ciliary dyskinesia. (22121832)
2012
17
Nasal nitric oxide and nitric oxide synthase expression in primary ciliary dyskinesia. (21273388)
2011
18
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. (20513915)
2010
19
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. (19840971)
2010
20
Primary ciliary dyskinesia demonstrating atypical presentation of Kartagener's syndrome. (20720372)
2010
21
Primary ciliary dyskinesia--an underdiagnosed entity. (21510469)
2010
22
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. (19675306)
2010
23
Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review. (19796826)
2009
24
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. (19948909)
2009
25
Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings. (19660117)
2009
26
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (19357118)
2009
27
Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. (18187313)
2008
28
Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. (17698172)
2008
29
Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. (17548739)
2007
30
Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype. (17272866)
2007
31
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (16627867)
2006
32
Movement: the emerging genetics of primary ciliary dyskinesia. (16822932)
2006
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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Clinvar genetic disease variations for Primary Ciliary Dyskinesia:

6
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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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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Pathways related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Neurofilaments60
9.0DNAI1, 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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Cellular components related to Primary Ciliary Dyskinesia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:0059299.7HYDIN, DNAI1
2axonemal dynein complexGO:0058589.3DNAI2, DNAH5, DNAH11
3motile ciliumGO:0315149.3RSPH4A, RSPH9
4microtubuleGO:0058749.0DNAH5, DNAI1, DNAI2, DNAH11
5axonemeGO:0059308.8RSPH9, RSPH4A, CCDC39, DNAI2
6cytoskeletonGO:0058568.6DNAI1, RSPH9, RSPH4A, CCDC39

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1axoneme assemblyGO:0350829.6RSPH9, RSPH4A
2microtubule-based movementGO:0070189.6DNAH11, DNAH5
3cilium movementGO:0033419.6RSPH4A, RSPH9
4metabolic processGO:0081529.3DNAI2, DNAH5, DNAI1
5cilium or flagellum-dependent cell motilityGO:0015399.3DNAH11, DNAH5
6cilium-dependent cell motilityGO:0602859.2CCDC39, DNAAF2
7axonemal dynein complex assemblyGO:0702869.0CCDC39, DNAAF3, DNAAF2

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

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:0168879.6DNAH5, DNAH11
2microtubule motor activityGO:0037779.0DNAH5, DNAI2, DNAH11

Products for genes affiliated with Primary Ciliary Dyskinesia

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Sources for Primary Ciliary Dyskinesia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet