ICS
MCID: PRM011
MIFTS: 57

Primary Ciliary Dyskinesia (ICS) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Fetal diseases

Aliases & Classifications for Primary Ciliary Dyskinesia

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Aliases & Descriptions for Primary Ciliary Dyskinesia:

Name: Primary Ciliary Dyskinesia 35 11 71 23 48 24 25 13
Immotile Cilia Syndrome 23 48 24 25 27
Ciliary Dyskinesia Primary 48 27
Ciliary Motility Disorders 39 68
Pcd 24 25
 
Ciliary Motility Disorder 11
Immotile Ciliary Syndrome 11
Polynesian Bronchiectasis 48
Kartagener Syndrome 68
Ics 48

Classifications:



External Ids:

Disease Ontology11 DOID:9562
MeSH39 D002925
SNOMED-CT62 86204009, 9057007
NCIt45 C84638

Summaries for Primary Ciliary Dyskinesia

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NIH Rare Diseases:48 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 immotile cilia syndrome, is related to primary ciliary dyskinesia 35 and primary ciliary dyskinesia 34, and has symptoms including recurrent respiratory infections An important gene associated with Primary Ciliary Dyskinesia is RSPH9 (Radial Spoke Head 9 Homolog). Affiliated tissues include lung, brain and testes, and related mouse phenotypes are craniofacial and cellular.

Genetics Home Reference:25 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.

Disease Ontology:11 A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube.

Wikipedia:71 Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare,... more...

GeneReviews for NBK1122

Related Diseases for Primary Ciliary Dyskinesia

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Diseases in the Primary Ciliary Dyskinesia family:

Ciliary Dyskinesia, Primary, 31 Ciliary Dyskinesia, Primary, 21
Ciliary Dyskinesia, Primary, 22 Ciliary Dyskinesia, Primary, 14
Ciliary Dyskinesia, Primary, 29 Ciliary Dyskinesia, Primary, 12
Ciliary Dyskinesia, Primary, 11 Ciliary Dyskinesia, Primary, 32
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
Primary Ciliary Dyskinesia 34 Primary Ciliary Dyskinesia 33
Primary Ciliary Dyskinesia 35 Ciliary Dyskinesia, Due to Transposition of Ciliary Microtubules

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

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1primary ciliary dyskinesia 3512.3
2primary ciliary dyskinesia 3412.3
3primary ciliary dyskinesia 3312.3
4congenital disorder of glycosylation, type ic12.2
5primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia12.1
6primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia12.1
7primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia12.1
8primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia12.1
9primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia12.1
10primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia12.1
11primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia12.1
12immotile cilia syndrome, due to defective radial spokes12.1
13pseudohypoparathyroidism ic12.1
14primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia12.0
15cutis laxa, autosomal recessive, type ic12.0
16kartagener syndrome12.0
17primary ciliary dyskinesia21: drc1-related primary ciliary dyskinesia12.0
18primary ciliary dyskinesia28: spag1-related primary ciliary dyskinesia12.0
19primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia12.0
20primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia12.0
21primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia12.0
22primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia12.0
23primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia12.0
24primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia12.0
25primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia12.0
26primary ciliary dyskinesia18: dnaaf5-related primary ciliary dyskinesia12.0
27primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia12.0
28primary ciliary dyskinesia20: ccdc114-related primary ciliary dyskinesia12.0
29primary ciliary dyskinesia22: zmynd10-related primary ciliary dyskinesia12.0
30primary ciliary dyskinesia23: armc4-related primary ciliary dyskinesia12.0
31primary ciliary dyskinesia24: rsph1-related primary ciliary dyskinesia12.0
32primary ciliary dyskinesia25: dnaaf4-related primary ciliary dyskinesia12.0
33primary ciliary dyskinesia26: c21orf59-related primary ciliary dyskinesia12.0
34primary ciliary dyskinesia27: ccdc65-related primary ciliary dyskinesia12.0
35primary ciliary dyskinesia29: ccno-related primary ciliary dyskinesia12.0
36primary ciliary dyskinesia30: ccdc151-related primary ciliary dyskinesia12.0
37ciliary dyskinesia, primary, 1, with or without situs inversus11.9
38neuropathy, hereditary sensory and autonomic, type ic11.9
39interstitial cystitis11.9
40lymphedema, hereditary, ic11.9
41amelogenesis imperfecta, type ic11.9
42glycogen storage disease ic11.9
43ciliary dyskinesia, primary, 2111.8
44ciliary dyskinesia, primary, 1411.8
45ciliary dyskinesia, primary, 2811.8
46ciliary dyskinesia, primary, 1911.8
47ciliary dyskinesia, primary, 2311.8
48ciliary dyskinesia, primary, 2711.8
49ciliary dyskinesia, primary, 1611.8
50ciliary dyskinesia, primary, 2511.8

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



Diseases related to primary ciliary dyskinesia

Symptoms & Phenotypes for Primary Ciliary Dyskinesia

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Human phenotypes related to Primary Ciliary Dyskinesia:

 64
id Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections64 HP:0002205

MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538210.7CCDC39, CCNO, DNAAF1, DNAAF4, DNAH11, DNAH5
2MP:000538410.5CCDC39, CCDC40, DNAAF2, DNAAF3, DNAAF4, DNAH11
3MP:000537810.3CCDC39, CCDC40, CCNO, DNAAF2, DNAAF3, DNAAF4
4MP:00053889.7CCDC39, CCDC40, CCNO, DNAAF2, DNAAF3, DNAAF4

Drugs & Therapeutics for Primary Ciliary Dyskinesia

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Drugs for Primary Ciliary Dyskinesia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AzithromycinapprovedPhase 334683905-01-555185, 53477736, 447043
Synonyms:
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-11-[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyloxan-2-yl]oxy-2-ethyl-3,4,10-trihydroxy-13-[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyloxan-2-yl]oxy-3,5,6,8,10,12,14-heptamethyl-1-oxa-6-azacyclopentadecan-15-one
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-13-((2,6-Dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-1-oxa-6-azacyclopentadecan-15-one
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-b-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-a-L-ribo-hexopyranoside
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranoside
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)13-((2,6-Dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-1-oxa-6-azacyclopentadecan-15-one
1-Oxa-6-azacyclopentadecan-15-one, 13-((2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-,(2R-(2R*,3S*
121470-24-4
75199_FLUKA
83905-01-5
9-Deoxo-9a-aza-9a-methyl-9a-homoerythromycin A
AC-16014
AC1L9KEG
Aritromicina
Azasite
Azenil
Azifast
Azigram
Azimakrol
Azithramycine
Azithromycin
Azithromycin & Tumor Necrosis Factor
Azithromycin (AIDS Initiative)
Azithromycin (anhydrous)
Azithromycin Dihydrate
Azithromycin Monohydrate
Azithromycin Sterile
Azithromycin dihydrate
Azithromycin plus Tumor Necrosis Factor
Azithromycine
Azithromycine [French]
Azithromycinum
Azithromycinum [Latin]
Azitrocin
Azitromax
Azitromicina
Azitromicina [Spanish]
Azitromin
Azythromycin
BIDD:GT0792
BRN 5387583
BSPBio_002285
Bio-0676
C38H72N2O12
CCRIS 1961
CHEBI:2955
CHEMBL529
CID447043
CP-62993
CP62,993
CPD000471864
DCH3
DRG-0104
 
DivK1c_000233
HMS1922G12
HMS2094M11
HMS500L15
HSDB 7205
Hemomycin
IDI1_000233
KBio1_000233
KBio2_000787
KBio2_003355
KBio2_005923
KBio3_001505
KBioGR_000731
KBioSS_000787
LS-1834
MLS001055353
MLS001066331
MLS001201763
MLS001304005
MLS001332499
MLS001332500
Misultina
MolPort-002-507-426
N,N-Dimethyl-4-amino-benzaldehyde
NCGC00090753-01
NCGC00090753-02
NINDS_000233
NSC643732
SAM002589961
SMR000471864
SPBio_001544
SPECTRUM1503679
Spectrum2_001582
Spectrum3_000653
Spectrum4_000186
Spectrum5_001867
Spectrum_000307
Sumamed
Tromix
UNII-JTE4MNN1MD
XZ-450
Z-Pak
ZIT
Zentavion
Zithromac
Zithromax
Zithromax IV
Zithromycin
Zitromax
Zitromax Avium 600
Zmas
Zmax
azithromycin
2Pharmaceutical SolutionsPhase 28192
3
Nitric Oxideapproved61710102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
4
Mentholapproved26062216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
5Peripheral Nervous System Agents23689
6Vasodilator Agents3543
7Respiratory System Agents4997
8Protective Agents7443
9Neurotransmitter Agents18340
10Anti-Asthmatic Agents3488
11Antioxidants3050
12Autonomic Agents10150
13Endothelium-Dependent Relaxing Factors281
14Bronchodilator Agents2965
15Albuterol429

Interventional clinical trials:

(show all 29)
idNameStatusNCT IDPhase
1The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis BronchiectasisActive, not recruitingNCT02531984Phase 3
2Clearing Lungs With ENaC Inhibition in Primary Ciliary DyskinesiaRecruitingNCT02871778Phase 2
3Screening for Primary Ciliary Dyskinesia Using Nasal Nitric OxideUnknown statusNCT00739817
4Early Detection and Characterization of Primary Ciliary DyskinesiaUnknown statusNCT01070914
5Chest Physiotherapy and Lung Function in Primary Ciliary DyskinesiaUnknown statusNCT01929356
6Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)Unknown statusNCT00686309
7Lateral Rectus Muscle and Anterior Segment Optical Coherence Tomography (AS-OCT) in Two Recession SurgeriesUnknown statusNCT02450162
8Diagnosis of Primary Ciliary DyskinesiaCompletedNCT00783887
9Otolith Function in Patients With Primary Ciliary DyskinesiaCompletedNCT01246258
10Genetic Study of Patients With Primary Ciliary DyskinesiaCompletedNCT00005650
11Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary DyskinesiaCompletedNCT01155115
12NIOX VERO Nasal Application in Primary Ciliary DyskinesiaCompletedNCT02622061
13Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
14Determination of Normal Values of Nasal Nitric Oxide in AdultsCompletedNCT02133547
15Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
16A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced AsthmaCompletedNCT01097954
17Electrical Impedance Tomography of Lung in Child and Young AgeCompletedNCT02290535
18International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
19Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
20Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
21Natural History of BronchiectasisRecruitingNCT00943514
22Infant Nasal Nitric Oxide Levels in Congenital Heart DiseaseRecruitingNCT02551107
23Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
24Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
25Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167
26Registry Study on Primary Ciliary Dyskinesia in Chinese ChildrenNot yet recruitingNCT02704455
27In Vivo Measurements of Nasal Ciliary Beat Frequency by Using InterferometryNot yet recruitingNCT02699177
28Evaluation of the Safety of the Medical Device Simeox®TerminatedNCT02061852
29Exhaled Nitric Oxide Levels in Infants and Young Children Infected With RSV or Other Viral InfectionsWithdrawnNCT01098227

Search NIH Clinical Center for Primary Ciliary Dyskinesia


Cochrane evidence based reviews: ciliary motility disorders

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 Dyskinesia27 24 RSPH9
2 Immotile Cilia27

Anatomical Context for Primary Ciliary Dyskinesia

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MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

36
Lung, Brain, Testes, Heart, Neutrophil, Colon, Skeletal muscle

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Primary Ciliary Dyskinesia:
id TissueAnatomical CompartmentCell Relevance
1 Primitive StreakPrimitive Streak  Affected by disease

Publications for Primary Ciliary Dyskinesia

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Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 493)
idTitleAuthorsYear
1
The time is right for an international primary ciliary dyskinesia disease registry. (28052961)
2017
2
The patient's experience of primary ciliary dyskinesia: a systematic review. (28361274)
2017
3
The international primary ciliary dyskinesia cohort (iPCD Cohort): methods and first results. (28052956)
2017
4
Hypertonic saline in patients with primary ciliary dyskinesia: on the road to evidence-based treatment for a rare lung disease. (28232418)
2017
5
Primary Ciliary Dyskinesia. (28250080)
2017
6
Airway Clearance Techniques for Primary Ciliary Dyskinesia; is the Cystic Fibrosis literature portable? (28408202)
2017
7
Accuracy of Nasal Nitric Oxide Measurement as a Diagnostic Test for Primary Ciliary Dyskinesia: A Systematic Review and Meta-Analysis. (28481653)
2017
8
A randomised controlled trial on the effect of inhaled hypertonic saline on quality of life in primary ciliary dyskinesia. (28232410)
2017
9
Matrix metalloproteinases and airway remodeling and function in primary ciliary dyskinesia. (28284321)
2017
10
How to use nasal nitric oxide in a child with suspected primary ciliary dyskinesia. (28495666)
2017
11
European Respiratory Society guidelines for the diagnosis of primary ciliary dyskinesia. (27836958)
2017
12
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. (28176794)
2017
13
Early Diagnosis of Primary Ciliary Dyskinesia: The Role of the Pediatrician. (28478721)
2017
14
Prevalence of primary ciliary dyskinesia in consecutive referrals of suspect cases and the transmission electron microscopy detection rate: a systematic review and meta-analysis. (27935903)
2017
15
Assessment of ciliary phenotype in primary ciliary dyskinesia by micro-optical coherence tomography. (28289722)
2017
16
Assessment of Ciliary Beat Pattern: Variability in Healthy Control Subjects Has Implications for Use as Test for Primary Ciliary Dyskinesia. (28483130)
2017
17
Mutations in PIH1D3 Cause X-Linked Primary Ciliary Dyskinesia with Outer and Inner Dynein Arm Defects. (28041644)
2017
18
Accuracy of Immunofluorescence in the Diagnosis of Primary Ciliary Dyskinesia. (28199173)
2017
19
Brush or scratch? Which biopsy is superior for the ultrastructural diagnosis of primary ciliary dyskinesia - A retrospective analysis. (28230514)
2017
20
Patient-specific three-dimensional explant spheroids derived from human nasal airway epithelium: a simple methodological approach for ex vivo studies of primary ciliary dyskinesia. (28344781)
2017
21
Validation of a health-related quality of life instrument for primary ciliary dyskinesia (QOL-PCD). (28246220)
2017
22
Lung structure and function similarities between primary ciliary dyskinesia and mild cystic fibrosis: a pilot study. (28403885)
2017
23
Better experimental screening and treatment for primary ciliary dyskinesia: The FP7 BESTCILIA project. (28230497)
2017
24
Diagnosis of primary ciliary dyskinesia: When and how? (28501546)
2017
25
An international registry for primary ciliary dyskinesia. (26659107)
2016
26
A longitudinal study characterising a large adult primary ciliary dyskinesia population. (27288033)
2016
27
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. (27746084)
2016
28
Clinical spectrum of primary ciliary dyskinesia in childhood. (26862502)
2016
29
Whole-exome sequencing identification of novel DNAH5 mutations in a young patient with primary ciliary dyskinesia. (27779714)
2016
30
TTC25 Deficiency Results in Defects of the Outer Dynein Arm Docking Machinery and Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization. (27486780)
2016
31
The impact of Primary Ciliary Dyskinesia on the upper respiratory tract. (26898410)
2016
32
DNAH6 and Its Interactions with PCD Genes in Heterotaxy and Primary Ciliary Dyskinesia. (26918822)
2016
33
Mutations in GAS8, A Gene Encoding A Nexin-Dynein Regulatory Complex Subunit, Cause Primary Ciliary Dyskinesia With Axonemal Disorganization. (27120127)
2016
34
Long-term outcome of Tunisian children with primary ciliary dyskinesia confirmed by transmission electron microscopy. (28479887)
2016
35
Diagnostic testing in primary ciliary dyskinesia. (27581414)
2016
36
Diagnostic testing in primary ciliary dyskinesia. (27581415)
2016
37
PICADAR: a diagnostic predictive tool for primary ciliary dyskinesia. (26917608)
2016
38
Mutations in DNAJB13, Encoding an HSP40 Family Member, Cause Primary Ciliary Dyskinesia and Male Infertility. (27486783)
2016
39
Toward an Earlier Diagnosis of Primary Ciliary Dyskinesia. Which Patients Should Undergo Detailed Diagnostic Testing? (27258773)
2016
40
A longitudinal evaluation of hearing and ventilation tube insertion in patients with primary ciliary dyskinesia. (27619050)
2016
41
Primary Ciliary Dyskinesia: Ciliary Beat Pattern/Frequency, Role of Molecular Analysis in the Diagnosis, and Neonatal Distress. (26761165)
2016
42
Primary ciliary dyskinesia with complex abnormalities including cleavage of B-subfibers. (27081490)
2016
43
Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis. (27312809)
2016
44
Primary ciliary dyskinesia in Israel: Prevalence, clinical features, current diagnosis and management practices. (27692146)
2016
45
Primary Ciliary Dyskinesia. (27514592)
2016
46
Clinical Features and Associated Likelihood of Primary Ciliary Dyskinesia in Children and Adolescents. (27070726)
2016
47
Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. (27637300)
2016
48
The dangers of widespread nitric oxide screening for primary ciliary dyskinesia. (26896442)
2016
49
Clinical manifestations in primary ciliary dyskinesia: systematic review and meta-analysis. (27492829)
2016
50
Cardiopulmonary Exercise Testing in Fontan Patients With and Without Isomerism (Heterotaxy) as Compared to Patients With Primary Ciliary Dyskinesia and Subjects With Structurally Normal Hearts. (27878633)
2016

Variations for Primary Ciliary Dyskinesia

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Clinvar genetic disease variations for Primary Ciliary Dyskinesia:

5 (show all 106)
id Gene Variation Type Significance SNP ID Assembly Location
1CCNONM_ 021147.4(CCNO): c.248_ 252dupTGCCC (p.Gly85Cysfs)duplicationPathogenicrs587777498GRCh38Chr 5, 55233272: 55233276
2DNAAF1NC_ 000016.9: g.(?_ 84178865)_ (84211524_ ?)deldeletionPathogenicGRCh37Chr 16, 84178865: 84211524
3CCDC39NM_ 181426.1(CCDC39): c.526_ 527delCT (p.Leu176Alafs)deletionPathogenicrs780175755GRCh37Chr 3, 180377547: 180377548
4DNAH5NM_ 001369.2(DNAH5): c.8998C> T (p.Arg3000Ter)SNVPathogenicrs769054713GRCh38Chr 5, 13777309: 13777309
5DNAH5NM_ 001369.2(DNAH5): c.(?_ -1)_ (*1_ ?)deldeletionPathogenic
6DNAH5NM_ 001369.2(DNAH5): c.13126-2A> CSNVPathogenicrs863224503GRCh37Chr 5, 13708446: 13708446
7DNAH5NM_ 001369.2(DNAH5): c.9502C> T (p.Arg3168Ter)SNVPathogenicrs863224504GRCh38Chr 5, 13770852: 13770852
8CCDC40NM_ 017950.3(CCDC40): c.3097A> T (p.Lys1033Ter)SNVPathogenicrs863224519GRCh38Chr 17, 80097320: 80097320
9CCDC40NM_ 017950.3(CCDC40): c.961C> T (p.Arg321Ter)SNVPathogenicrs754867753GRCh38Chr 17, 80050085: 80050085
10CCDC39NM_ 181426.1(CCDC39): c.1644delT (p.Asp548Glufs)deletionPathogenicrs863224531GRCh38Chr 3, 180644141: 180644141
11CCDC39NM_ 181426.1(CCDC39): c.610-2A> GSNVPathogenicrs756235547GRCh38Chr 3, 180659582: 180659582
12DNAH5NM_ 001369.2(DNAH5): c.4605dupT (p.Ile1536Tyrfs)duplicationPathogenicrs864622512GRCh38Chr 5, 13862739: 13862739
13DNAH5NM_ 001369.2(DNAH5): c.6335_ 6336insT (p.Gln2112Hisfs)insertionPathogenicrs779506456GRCh38Chr 5, 13829618: 13829619
14DNAH5NM_ 001369.2(DNAH5): c.5281C> T (p.Arg1761Ter)SNVPathogenicrs148891849GRCh37Chr 5, 13842004: 13842004
15DNAH5NM_ 001369.2(DNAH5): c.5557A> T (p.Lys1853Ter)SNVPathogenicrs748618094GRCh37Chr 5, 13841167: 13841167
16DNAH5NM_ 001369.2(DNAH5): c.9365delT (p.Leu3122Terfs)deletionPathogenicrs1060501460GRCh38Chr 5, 13776447: 13776447
17DNAH5NM_ 001369.2(DNAH5): c.6249G> A (p.Met2083Ile)SNVPathogenic/ Likely pathogenicrs753614861GRCh37Chr 5, 13830135: 13830135
18CCDC40NM_ 017950.3(CCDC40): c.940-2A> GSNVPathogenicrs750708201GRCh37Chr 17, 78023861: 78023861
19DNAH11NM_ 001277115.1(DNAH11): c.4333C> T (p.Arg1445Ter)SNVPathogenicrs72657316GRCh37Chr 7, 21658796: 21658796
20DNAH11NM_ 001277115.1(DNAH11): c.6244C> T (p.Arg2082Ter)SNVPathogenicrs200693106GRCh37Chr 7, 21742391: 21742391
21DNAI1NM_ 012144.3(DNAI1): c.336delC (p.Asp114Thrfs)deletionPathogenicrs876657683GRCh37Chr 9, 34489395: 34489395
22DNAI2NM_ 023036.4(DNAI2): c.1304G> A (p.Trp435Ter)SNVPathogenicrs752924362GRCh38Chr 17, 74309345: 74309345
23DNAH11NM_ 001277115.1(DNAH11): c.10324C> T (p.Gln3442Ter)SNVPathogenicrs72657393GRCh38Chr 7, 21808041: 21808041
24DNAH11NM_ 001277115.1(DNAH11): c.11381T> A (p.Leu3794Ter)SNVPathogenicrs878854435GRCh37Chr 7, 21904160: 21904160
25DNAH11NM_ 001277115.1(DNAH11): c.3122G> A (p.Trp1041Ter)SNVPathogenicrs878854441GRCh37Chr 7, 21640415: 21640415
26DNAH11NM_ 001277115.1(DNAH11): c.4438C> T (p.Arg1480Ter)SNVPathogenicrs72657321GRCh38Chr 7, 21620016: 21620016
27DNAH11NM_ 001277115.1(DNAH11): c.4621C> T (p.Arg1541Ter)SNVPathogenicrs757013900GRCh38Chr 7, 21635991: 21635991
28DNAH11NM_ 001277115.1(DNAH11): c.7140_ 7141delAT (p.Val2382Serfs)deletionPathogenicrs878854445GRCh37Chr 7, 21760348: 21760349
29DNAH11NM_ 001277115.1(DNAH11): c.8610C> G (p.Tyr2870Ter)SNVPathogenicrs878854446GRCh37Chr 7, 21788297: 21788297
30DNAH5NM_ 001369.2(DNAH5): c.10384C> T (p.Gln3462Ter)SNVPathogenicrs571919972GRCh37Chr 5, 13758990: 13758990
31DNAH5NM_ 001369.2(DNAH5): c.3291dupA (p.Pro1098Thrfs)duplicationPathogenicrs762081081GRCh38Chr 5, 13876789: 13876789
32DNAH5NM_ 001369.2(DNAH5): c.5114+1G> CSNVPathogenicrs878854457GRCh37Chr 5, 13850760: 13850760
33DNAH5NM_ 001369.2(DNAH5): c.6508dupA (p.Arg2170Lysfs)duplicationPathogenicrs878854458GRCh38Chr 5, 13824270: 13824270
34DNAH5NM_ 001369.2(DNAH5): c.7034G> A (p.Trp2345Ter)SNVPathogenicrs755596256GRCh37Chr 5, 13814910: 13814910
35DNAH5NM_ 001369.2(DNAH5): c.8029C> T (p.Arg2677Ter)SNVPathogenicrs775946081GRCh37Chr 5, 13793819: 13793819
36DNAI1NM_ 012144.3(DNAI1): c.1307G> A (p.Trp436Ter)SNVPathogenicrs769284314GRCh37Chr 9, 34506868: 34506868
37DNAI1NM_ 012144.3(DNAI1): c.1644G> A (p.Trp548Ter)SNVPathogenicrs200669099GRCh37Chr 9, 34514466: 34514466
38DNAI1NM_ 012144.3(DNAI1): c.912C> G (p.Tyr304Ter)SNVPathogenicrs878854968GRCh38Chr 9, 34500732: 34500732
39DNAAF5NM_ 017802.3(DNAAF5): c.2353_ 2354delAG (p.Ser785Glnfs)deletionPathogenicrs878855036GRCh37Chr 7, 819703: 819704
40CCDC40NM_ 017950.3(CCDC40): c.1620delC (p.Ile541Serfs)deletionPathogenicrs878855041GRCh38Chr 17, 80081603: 80081603
41CCDC40NM_ 017950.3(CCDC40): c.2852dupT (p.Lys952Glufs)duplicationPathogenicrs878855042GRCh38Chr 17, 80095282: 80095282
42DNAI2NM_ 023036.4(DNAI2): c.1420G> A (p.Gly474Arg)SNVPathogenicrs878855078GRCh38Chr 17, 74310089: 74310089
43CCDC39NM_ 181426.1(CCDC39): c.1073_ 1076delCAAA (p.Thr358Asnfs)deletionPathogenicrs878855279GRCh37Chr 3, 180369280: 180369283
44CCDC39NM_ 181426.1(CCDC39): c.163_ 164delAT (p.Met55Aspfs)deletionPathogenicrs878855280GRCh37Chr 3, 180381701: 180381702
45CCDC39NM_ 181426.1(CCDC39): c.830_ 831delCA (p.Thr277Argfs)deletionPathogenicrs773801386GRCh37Chr 3, 180372649: 180372650
46DNAH5NM_ 001369.2(DNAH5): c.278-?_ 438+?deldeletionPathogenicGRCh38Chr 5, 13923280: 13923440
47DNAAF4NM_ 130810.3(DNAAF4): c.784-?_ 893+?deldeletionPathogenicGRCh37Chr 15, 55731670: 55731779
48DNAH11NM_ 001277115.1(DNAH11): c.6727C> T (p.Arg2243Ter)SNVPathogenicrs201943194GRCh37Chr 7, 21750214: 21750214
49CCDC39NM_ 181426.1(CCDC39): c.357+1G> CSNVPathogenicrs397515392GRCh37Chr 3, 180379648: 180379648
50CCDC40NM_ 017950.3(CCDC40): c.248delC (p.Ala83Valfs)deletionPathogenicrs397515393GRCh37Chr 17, 78013765: 78013765
51CCDC103NM_ 213607.2(CCDC103): c.461A> C (p.His154Pro)SNVPathogenicrs145457535GRCh37Chr 17, 42979917: 42979917
52DNAH11NM_ 001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter)SNVPathogenicrs368260932GRCh37Chr 7, 21789320: 21789320
53CCDC114NM_ 144577.3(CCDC114): c.742G> A (p.Ala248Thr)SNVPathogenicrs147718607GRCh37Chr 19, 48807210: 48807210
54RPGRNM_ 000328.2(RPGR): c.1366C> T (p.Gln456Ter)SNVPathogenicrs1060501181GRCh38Chr X, 38297332: 38297332
55DNAH5NM_ 001369.2(DNAH5): c.8465G> A (p.Trp2822Ter)SNVPathogenicrs1060501455GRCh38Chr 5, 13788898: 13788898
56DNAH5NM_ 001369.2(DNAH5): c.559G> T (p.Glu187Ter)SNVPathogenicrs759059925GRCh37Chr 5, 13922317: 13922317
57DNAH5NM_ 001369.2(DNAH5): c.8314C> T (p.Arg2772Ter)SNVPathogenicrs781469274GRCh38Chr 5, 13792128: 13792128
58DNAH5NM_ 001369.2(DNAH5): c.5983C> T (p.Arg1995Ter)SNVPathogenicrs773711154GRCh38Chr 5, 13830675: 13830675
59DNAH5NM_ 001369.2(DNAH5): c.12265C> T (p.Gln4089Ter)SNVPathogenicrs1060501456GRCh38Chr 5, 13721014: 13721014
60DNAH5NM_ 001369.2(DNAH5): c.6273_ 6274delGGinsA (p.Glu2092Asnfs)indelPathogenicrs1060501457GRCh38Chr 5, 13829680: 13829681
61DNAH5NM_ 001369.2(DNAH5): c.2533C> T (p.Gln845Ter)SNVPathogenicrs1060501458GRCh38Chr 5, 13891020: 13891020
62DNAH5NM_ 001369.2(DNAH5): c.8024_ 8025dupTA (p.Val2676Terfs)duplicationPathogenicGRCh38Chr 5, 13793714: 13793715
63DNAH5NM_ 001369.2(DNAH5): c.6293delA (p.Lys2098Argfs)deletionPathogenicrs1060501461GRCh38Chr 5, 13829661: 13829661
64DNAH5NM_ 001369.2(DNAH5): c.12599dupA (p.Phe4201Valfs)duplicationPathogenicGRCh38Chr 5, 13717421: 13717421
65DNAH5NM_ 001369.2(DNAH5): c.5563dupA (p.Ile1855Asnfs)duplicationPathogenicGRCh38Chr 5, 13841052: 13841052
66DNAH5NM_ 001369.2(DNAH5): c.11725C> T (p.Arg3909Ter)SNVPathogenicrs1060501464GRCh38Chr 5, 13735167: 13735167
67DNAH5NM_ 001369.2(DNAH5): c.13331G> A (p.Trp4444Ter)SNVPathogenicrs1060501467GRCh38Chr 5, 13708130: 13708130
68DNAH5NM_ 001369.2(DNAH5): c.13486C> T (p.Arg4496Ter)SNVPathogenicrs200901816GRCh38Chr 5, 13701289: 13701289
69DNAH5NM_ 001369.2(DNAH5): c.10910delT (p.Leu3637Argfs)deletionPathogenicrs769691189GRCh38Chr 5, 13752252: 13752252
70DNAH8NM_ 001206927.1(DNAH8): c.7866G> A (p.Trp2622Ter)SNVPathogenicrs766256391GRCh38Chr 6, 38882917: 38882917
71CCDC40NM_ 017950.3(CCDC40): c.2591_ 2592delCAinsACCG (p.Thr864Asnfs)indelPathogenicrs1060501719GRCh38Chr 17, 80087748: 80087749
72CCDC40NM_ 017950.3(CCDC40): c.2712-1G> TSNVPathogenicrs370706991GRCh38Chr 17, 80089763: 80089763
73CCDC40NM_ 017950.3(CCDC40): c.1276G> T (p.Glu426Ter)SNVPathogenicrs775299709GRCh38Chr 17, 80058610: 80058610
74RSPH1NM_ 080860.3(RSPH1): c.287dupA (p.Asn96Lysfs)duplicationPathogenicGRCh38Chr 21, 42486449: 42486449
75RSPH1NM_ 080860.3(RSPH1): c.573+1_ 573+17del17deletionPathogenicGRCh38Chr 21, 42482620: 42482636
76DNAI2NM_ 023036.4(DNAI2): c.883C> T (p.Arg295Ter)SNVPathogenicrs200708870GRCh38Chr 17, 74301064: 74301064
77DNAI2NM_ 023036.4(DNAI2): c.1516C> T (p.Arg506Ter)SNVPathogenicrs141581673GRCh38Chr 17, 74312024: 74312024
78DNAI2NM_ 023036.4(DNAI2): c.876G> A (p.Trp292Ter)SNVPathogenicrs1060502202GRCh38Chr 17, 74301057: 74301057
79RSPH4ANM_ 001010892.2(RSPH4A): c.1068G> A (p.Trp356Ter)SNVPathogenicrs371374918GRCh38Chr 6, 116627775: 116627775
80DNAAF1NM_ 178452.5(DNAAF1): c.190C> T (p.Gln64Ter)SNVPathogenicrs1060502829GRCh38Chr 16, 84149072: 84149072
81DNAAF3NM_ 001256714.1(DNAAF3): c.1201dupG (p.Asp401Glyfs)duplicationPathogenicGRCh38Chr 19, 55160691: 55160691
82DNAAF3NM_ 001256714.1(DNAAF3): c.811_ 815dupGACGC (p.Arg273Thrfs)duplicationPathogenicGRCh38Chr 19, 55161695: 55161699
83CCDC39NM_ 181426.1(CCDC39): c.1167+1261A> GSNVPathogenicrs577069249GRCh38Chr 3, 180650140: 180650140
84DNAH11NM_ 001277115.1(DNAH11): c.13075C> T (p.Arg4359Ter)SNVPathogenicrs774903187GRCh38Chr 7, 21899361: 21899361
85DNAH11NM_ 001277115.1(DNAH11): c.10789C> T (p.Gln3597Ter)SNVPathogenicrs1060503063GRCh38Chr 7, 21842641: 21842641
86DNAAF4NM_ 001033560.1(DNAAF4): c.165_ 167delTCCinsCT (p.Pro56Serfs)indelPathogenicrs1060503095GRCh38Chr 15, 55497816: 55497818
87DNAAF2NM_ 018139.2(DNAAF2): c.1156_ 1159dupGGGG (p.Glu387Glyfs)duplicationPathogenicGRCh38Chr 14, 49633991: 49633994
88DNAAF2NM_ 018139.2(DNAAF2): c.388G> T (p.Glu130Ter)SNVPathogenicrs752795172GRCh38Chr 14, 49634762: 49634762
89CCNONM_ 021147.4(CCNO): c.638T> C (p.Leu213Pro)SNVPathogenicrs775051461GRCh38Chr 5, 55231790: 55231790
90CCNONM_ 021147.4(CCNO): c.775C> T (p.Gln259Ter)SNVPathogenicrs1060503388GRCh38Chr 5, 55231653: 55231653
91CCDC103NM_ 213607.2(CCDC103): c.115C> T (p.Gln39Ter)SNVPathogenicrs1060503433GRCh38Chr 17, 44901113: 44901113
92DNAI1NM_ 012144.3(DNAI1): c.156delT (p.Asp53Thrfs)deletionPathogenicrs1060503495GRCh38Chr 9, 34485216: 34485216
93DNAI1NM_ 012144.3(DNAI1): c.1188delC (p.Tyr397Thrfs)deletionPathogenicrs1060503515GRCh38Chr 9, 34506751: 34506751
94DNAAF4NC_ 000015.10: g.(?_ 55450222)_ (55450367_ ?)deldeletionPathogenicGRCh38Chr 15, 55450222: 55450367
95DNAH5NC_ 000005.10: g.(?_ 13824199)_ (13830775_ ?)deldeletionPathogenicGRCh38Chr 5, 13824199: 13830775
96RSPH4ANM_ 001010892.2(RSPH4A): c.460C> T (p.Gln154Ter)SNVPathogenicrs118204041GRCh37Chr 6, 116938246: 116938246
97RSPH4ANM_ 001010892.2(RSPH4A): c.325C> T (p.Gln109Ter)SNVPathogenicrs118204042GRCh37Chr 6, 116938111: 116938111
98DNAI1NM_ 012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12)duplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
99DNAI1NM_ 012144.3(DNAI1): c.1543G> A (p.Gly515Ser)SNVPathogenic/ Likely pathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
100DNAH5NM_ 001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs)deletionPathogenicrs397515540GRCh37Chr 5, 13753399: 13753399
101ZMYND10NM_ 015896.3(ZMYND10): c.47T> G (p.Val16Gly)SNVPathogenicrs138815960GRCh37Chr 3, 50382964: 50382964
102RSPH1NM_ 080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10)SNVPathogenicrs151107532GRCh37Chr 21, 43906573: 43906573
103RSPH9NM_ 152732.4(RSPH9): c.804_ 806delGAA (p.Lys268del)deletionPathogenicrs397515340GRCh37Chr 6, 43638659: 43638661
104DNAAF4NM_ 130810.3(DNAAF4): c.808C> T (p.Arg270Ter)SNVPathogenicrs397515621GRCh37Chr 15, 55731755: 55731755
105CCDC65NM_ 033124.4(CCDC65): c.877_ 878delAT (p.Ile293Profs)deletionPathogenic/ Likely pathogenicrs863223325GRCh37Chr 12, 49312537: 49312538
106RSPH4ANM_ 001010892.2(RSPH4A): c.921+3_ 921+6delAAGT (p.Tyr230GlnfsTer8)deletionPathogenicrs869320683GRCh37Chr 6, 116944168: 116944171

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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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:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1axonemal dynein complexGO:000585811.0DNAH5, DNAH8, DNAI2
2dynein complexGO:003028610.7DNAH11, DNAH5, DNAH8, DNAI1, DNAI2
3microtubuleGO:000587410.6DNAH11, DNAH5, DNAH8, DNAI1, DNAI2
4outer dynein armGO:003615710.6CCDC114, DNAH5, DNAI1, DNAI2
5axonemeGO:000593010.6CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAH5
6motile ciliumGO:003151410.4CCDC103, DNAAF5, DNAH11, RSPH1, RSPH4A, RSPH9
7cytoskeletonGO:000585610.3CCDC39, DNAAF1, DNAH11, DNAH5, DNAH8, DNAI1
8sperm flagellumGO:003612610.2DNAI2, RPGR, RSPH1
9cell projectionGO:004299510.2CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAH11
10ciliumGO:000592910.2CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAH11
11cytoplasmGO:00057379.6CCDC103, CCDC39, CCDC40, CCNO, DNAAF1, DNAAF2

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1epithelial cilium movementGO:000335111.0CCDC40, DNAI1
2cilium-dependent cell motilityGO:006028510.9CCDC39, DNAAF2, DNAH8
3determination of liver left/right asymmetryGO:007191010.9CCDC39, CCDC40, DNAAF1
4determination of pancreatic left/right asymmetryGO:003546910.9CCDC39, CCDC40, DNAAF1
5axoneme assemblyGO:003508210.9CCDC40, RSPH1, RSPH4A, RSPH9
6heart developmentGO:000750710.8CCDC39, DNAH11, DNAH5, DNAI1
7determination of digestive tract left/right asymmetryGO:007190710.8CCDC103, CCDC39, CCDC40, DNAAF1
8epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.8CCDC103, CCDC39, CCDC40, DNAAF1
9lung developmentGO:003032410.8CCDC39, CCDC40, DNAAF1
10flagellated sperm motilityGO:003031710.8CCDC39, CCDC40, DNAH11, DNAH5, DNAI1
11cilium assemblyGO:006027110.7CCNO, DNAAF1, DNAH5, DNAI2, RPGR
12heart loopingGO:000194710.7CCDC103, CCDC39, CCDC40, DNAAF1
13determination of left/right symmetryGO:000736810.7CCDC39, DNAAF4, DNAH11, DNAH5, DNAI1, DNAI2
14microtubule-based movementGO:000701810.7DNAH11, DNAH5, DNAH8
15axonemal dynein complex assemblyGO:007028610.7CCDC103, CCDC39, CCDC40, DNAAF1, DNAAF2, DNAAF3
16cell projection organizationGO:003003010.6CCDC103, CCNO, DNAAF3, DNAAF5, DNAI1, DNAI2
17inner dynein arm assemblyGO:003615910.4CCDC103, CCDC39, CCDC40, DNAAF1, DNAAF4, DNAAF5
18motile cilium assemblyGO:004445810.3CCDC39, CCDC40, DNAAF1, DNAAF3, RSPH9, ZMYND10
19regulation of cilium beat frequencyGO:000335610.2CCDC39, CCDC40, DNAAF1, DNAH11
20cilium movementGO:000334110.1CCDC103, CCDC114, CCDC39, CCDC40, DNAAF1, DNAAF4
21outer dynein arm assemblyGO:00361589.9CCDC103, CCDC114, DNAAF1, DNAAF4, DNAAF5, DNAH5

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:000377710.7DNAH11, DNAH5, DNAH8, DNAI2
2motor activityGO:000377410.1DNAH11, DNAH5, DNAH8, DNAI1, DNAI2

Sources for Primary Ciliary Dyskinesia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet