MCID: PRM011
MIFTS: 51

Primary Ciliary Dyskinesia malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Aliases & Classifications for Primary Ciliary Dyskinesia

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Primary Ciliary Dyskinesia, Aliases & Descriptions:

Name: Primary Ciliary Dyskinesia 30 9 19 41 21 11
Ciliary Dyskinesia Primary 41 20 22
Immotile Cilia Syndrome 19 41 21
Ciliary Motility Disorders 60
Polynesian Bronchiectasis 41
 
Ciliary Motility Disorder 9
Immotile Ciliary Syndrome 9
Kartagener Syndrome 60
Pcd 21
Ics 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Respiratory diseases


External Ids:

Disease Ontology9 DOID:9562
NCIt38 C84638
SNOMED-CT55 9057007, 86204009
MeSH33 D002925

Summaries for Primary Ciliary Dyskinesia

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NIH Rare Diseases:41 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 ciliary dyskinesia, primary, 1, with or without situs inversus 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: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: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...

GeneReviews summary for pcd

Related Diseases for Primary Ciliary Dyskinesia

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Diseases in the Primary Ciliary Dyskinesia family:

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, 4
Ciliary Dyskinesia, Primary, 25 Ciliary Dyskinesia, Primary, 8
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 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules
Secondary Ciliary Dyskinesia

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

(show top 50)    (show all 220)
idRelated DiseaseScoreTop Affiliating Genes
1ciliary dyskinesia, primary, 1, with or without situs inversus31.1DNAI1, DNAH5
2situs inversus30.1DNAI1, DNAI2, RSPH9, CCDC39, DNAH11, DNAH5
3cystic fibrosis10.8
4bronchiectasis10.7
5immotile cilia syndrome, due to defective radial spokes10.7
6hydrocephalus10.6
7primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia10.6
8primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia10.6
9primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia10.6
10primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia10.6
11primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia10.6
12primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia10.6
13primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia10.6
14ciliary dyskinesia, primary, 1210.6
15ciliary dyskinesia, primary, 1110.6
16ciliary dyskinesia, primary, 1810.6
17ciliary dyskinesia, primary, 610.6
18ciliary dyskinesia, primary, 1010.6
19ciliary dyskinesia, primary, 410.6
20ciliary dyskinesia, primary, 810.6
21ciliary dyskinesia, primary, 1310.6
22ciliary dyskinesia, primary, 210.6
23congenital disorder of glycosylation, type ic10.5
24ciliary dyskinesia, primary, 510.5
25ciliary dyskinesia with excessively long cilia10.5
26ciliary dyskinesia, primary, 2210.4
27ciliary dyskinesia, primary, 3010.4
28retinitis pigmentosa10.4
29sinusitis10.4
30congenital heart disease10.4
31otitis media10.4
32retinitis10.4
33heterotaxy10.4
34primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.4
35primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia10.4
36primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia10.4
37primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia10.4
38primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia10.4
39primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia10.4
40primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia10.4
41primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia10.4
42primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia10.4
43primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia10.4
44primary ciliary dyskinesia - retinitis pigmentosa10.4
45chronic interstitial cystitis10.4
46encephalitis10.4
47ciliary dyskinesia, primary, 3, with or without situs inversus10.4
48ciliary dyskinesia, primary, 7, with or without situs inversus10.4
49ciliary dyskinesia, primary, 9, with or without situs inversus10.4
50pneumonia10.4

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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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:

31
Lung, Brain, Testes, Heart, Neutrophil, Skeletal muscle, Colon

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

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MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

35
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 395)
idTitleAuthorsYear
1
Primary ciliary dyskinesia. (25826585)
2015
2
Lung structure-function correlation in patients with primary ciliary dyskinesia. (25673230)
2015
3
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. (25789548)
2015
4
Peripheral Vestibular Dysfunction in Patients with Primary Ciliary Dyskinesia: Abnormal Otoconial Development? (25226371)
2014
5
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. (24369140)
2014
6
Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? (24081772)
2013
7
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. (23993197)
2013
8
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (23849778)
2013
9
Cyanosis when head turned to left in an infant with primary ciliary dyskinesia. (22431414)
2013
10
Up to date on primary ciliary dyskinesia in children. (23973004)
2013
11
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. (23815669)
2013
12
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. (24150548)
2013
13
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. (23527195)
2013
14
Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? (22232363)
2012
15
Managing upper respiratory tract complications of primary ciliary dyskinesia in children. (22157161)
2012
16
Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. (22771515)
2012
17
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (22387996)
2012
18
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. (22135026)
2012
19
Cardiopulmonary assessment in primary ciliary dyskinesia. (22121832)
2012
20
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. (20513915)
2010
21
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. (19840971)
2010
22
Primary ciliary dyskinesia demonstrating atypical presentation of Kartagener's syndrome. (20720372)
2010
23
Primary ciliary dyskinesia--an underdiagnosed entity. (21510469)
2010
24
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. (19675306)
2010
25
Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review. (19796826)
2009
26
Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings. (19660117)
2009
27
Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. (19357118)
2009
28
Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. (18187313)
2008
29
Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. (17698172)
2008
30
Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. (17548739)
2007
31
Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype. (17272866)
2007
32
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (16627867)
2006
33
Movement: the emerging genetics of primary ciliary dyskinesia. (16822932)
2006
34
Absence of nexin links as a possible cause of primary ciliary dyskinesia. (12746204)
2003
35
Primary ciliary dyskinesia. (12390901)
2002
36
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. (11110460)
2000
37
Plasma membrane polarity of polymorphonuclear leucocytes from children with primary ciliary dyskinesia. (10849021)
2000
38
Computer-assisted analysis of radial symmetry in human airway epithelial cilia: assessment of congenital ciliary defects in primary ciliary dyskinesia. (10914428)
2000
39
Incidence of primary ciliary dyskinesia in children with recurrent respiratory diseases. (9342982)
1997
40
Treatment of otitis media with effusion in children with primary ciliary dyskinesia. (9298603)
1997
41
Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. (8630555)
1996
42
Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. (7735615)
1995
43
Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. (8066563)
1994
44
Primary ciliary dyskinesia (the immotile cilia syndrome). (7998657)
1994
45
Primary Ciliary Dyskinesia (20301301)
1993
46
Primary ciliary dyskinesia in the dog. (1643316)
1992
47
Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects. (2738166)
1989
48
Chronic pneumonia in a child with primary ciliary dyskinesia. (3258715)
1988
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 Variation 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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Search GEO for disease gene expression data for Primary Ciliary Dyskinesia.

Pathways for genes affiliated with Primary Ciliary Dyskinesia

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Pathways related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes

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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ciliumGO:00059299.7HYDIN, DNAI1
2axonemal dynein complexGO:00058589.3DNAH5, DNAI2, DNAH11
3motile ciliumGO:00315149.3RSPH4A, RSPH9
4microtubuleGO:00058749.0DNAH11, DNAI2, DNAH5, DNAI1
5axonemeGO:00059308.8DNAI2, CCDC39, RSPH4A, RSPH9
6cytoskeletonGO:00058568.6RSPH9, RSPH4A, CCDC39, DNAI1

Biological processes related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1axoneme assemblyGO:00350829.6RSPH4A, RSPH9
2microtubule-based movementGO:00070189.6DNAH5, DNAH11
3cilium movementGO:00033419.6RSPH9, RSPH4A
4metabolic processGO:00081529.3DNAI1, DNAH5, DNAI2
5cilium or flagellum-dependent cell motilityGO:00015399.3DNAH5, DNAH11
6cilium-dependent cell motilityGO:00602859.2DNAAF2, CCDC39
7axonemal dynein complex assemblyGO:00702869.0DNAAF2, DNAAF3, CCDC39

Molecular functions related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ATPase activityGO:00168879.6DNAH5, DNAH11
2microtubule motor activityGO:00037779.0DNAH5, DNAI2, DNAH11

Products for genes affiliated with Primary Ciliary Dyskinesia

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Sources for Primary Ciliary Dyskinesia

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3CDC
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14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet