MCID: PRM011
MIFTS: 56

Primary Ciliary Dyskinesia malady

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

Aliases & Classifications for Primary Ciliary Dyskinesia

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Aliases & Descriptions for Primary Ciliary Dyskinesia:

Name: Primary Ciliary Dyskinesia 33 11 69 22 46 23 24 13
Immotile Cilia Syndrome 22 46 23 24 25
Ciliary Dyskinesia Primary 46 25
Ciliary Motility Disorders 37 66
Pcd 23 24
 
Ciliary Motility Disorder 11
Immotile Ciliary Syndrome 11
Polynesian Bronchiectasis 46
Kartagener Syndrome 66
Ics 46

Classifications:



External Ids:

Disease Ontology11 DOID:9562
MeSH37 D002925
SNOMED-CT60 86204009, 9057007
NCIt43 C84638

Summaries for Primary Ciliary Dyskinesia

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NIH Rare Diseases:46 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 congenital disorder of glycosylation, type ic and primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia, and has symptoms including decreased libido, decreased libido and increased libido. An important gene associated with Primary Ciliary Dyskinesia is DNAH5 (Dynein Axonemal Heavy Chain 5), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include lung, brain and heart, and related mouse phenotype respiratory system.

Disease Ontology:11 A ciliopathy 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:24 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:69 Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare,... more...

GeneReviews summary 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
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 172)
idRelated DiseaseScoreTop Affiliating Genes
1congenital disorder of glycosylation, type ic12.2
2primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia12.2
3primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia12.2
4primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia12.2
5primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia12.2
6primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia12.2
7primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia12.2
8primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia12.2
9immotile cilia syndrome, due to defective radial spokes12.2
10primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia12.1
11primary ciliary dyskinesia21: drc1-related primary ciliary dyskinesia12.1
12primary ciliary dyskinesia28: spag1-related primary ciliary dyskinesia12.1
13primary ciliary dyskinesia11: rsph4a-related primary ciliary dyskinesia12.1
14primary ciliary dyskinesia12: rsph9-related primary ciliary dyskinesia12.1
15primary ciliary dyskinesia13: dnaaf1-related primary ciliary dyskinesia12.1
16primary ciliary dyskinesia14: ccdc39-related primary ciliary dyskinesia12.1
17primary ciliary dyskinesia15: ccdc40-related primary ciliary dyskinesia12.1
18primary ciliary dyskinesia16: dnal1-related primary ciliary dyskinesia12.1
19primary ciliary dyskinesia17: ccdc103-related primary ciliary dyskinesia12.1
20primary ciliary dyskinesia18: heatr2-related primary ciliary dyskinesia12.1
21primary ciliary dyskinesia19: lrrc6-related primary ciliary dyskinesia12.1
22primary ciliary dyskinesia20: ccdc114-related primary ciliary dyskinesia12.1
23primary ciliary dyskinesia22: zmynd10-related primary ciliary dyskinesia12.1
24primary ciliary dyskinesia23: armc4-related primary ciliary dyskinesia12.1
25primary ciliary dyskinesia24: rsph1-related primary ciliary dyskinesia12.1
26primary ciliary dyskinesia25: dyx1c1-related primary ciliary dyskinesia12.1
27primary ciliary dyskinesia26: c21orf59-related primary ciliary dyskinesia12.1
28primary ciliary dyskinesia27: ccdc65-related primary ciliary dyskinesia12.1
29primary ciliary dyskinesia29: ccno-related primary ciliary dyskinesia12.1
30primary ciliary dyskinesia30: ccdc151-related primary ciliary dyskinesia12.1
31pseudohypoparathyroidism ic12.1
32neuropathy, hereditary sensory and autonomic, type ic12.0
33cutis laxa, autosomal recessive, type ic12.0
34lymphedema, hereditary, ic12.0
35amelogenesis imperfecta, type ic12.0
36glycogen storage disease ic12.0
37muscular dystrophy, limb-girdle, type ic11.9
38isolated focal cortical dysplasia type ic11.9
39ciliary dyskinesia, primary, 1, with or without situs inversus11.6
40interstitial cystitis11.6
41iridocorneal endothelial syndrome11.5
42ciliary dyskinesia, primary, 9, with or without situs inversus11.5
43ciliary dyskinesia, primary, 2111.5
44ciliary dyskinesia, primary, 1411.5
45ciliary dyskinesia, primary, 2811.5
46ciliary dyskinesia, primary, 1911.5
47ciliary dyskinesia, primary, 2311.5
48ciliary dyskinesia, primary, 2711.5
49ciliary dyskinesia, primary, 1611.5
50ciliary dyskinesia, primary, 2511.5

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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UMLS symptoms related to Primary Ciliary Dyskinesia:


decreased libido, increased libido, anosmia, headache

Drugs & Therapeutics for Primary Ciliary Dyskinesia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AzithromycinPhase 333083905-01-555185, 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
2
Nitric Oxide58510102-43-9145068
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
3
Menthol21842216-51-516666
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

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
3Diagnosis of Primary Ciliary DyskinesiaCompletedNCT00783887
4Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary DyskinesiaCompletedNCT01155115
5Genetic Study of Patients With Primary Ciliary DyskinesiaCompletedNCT00005650
6Otolith Function in Patients With Primary Ciliary DyskinesiaCompletedNCT01246258
7Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
8Determination of Normal Values of Nasal Nitric Oxide in AdultsCompletedNCT02133547
9Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
10A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced AsthmaCompletedNCT01097954
11Electrical Impedance Tomography of Lung in Child and Young AgeCompletedNCT02290535
12International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
13Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
14Early Detection and Characterization of Primary Ciliary DyskinesiaRecruitingNCT01070914
15Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
16NIOX VERO Nasal Application in Primary Ciliary DyskinesiaRecruitingNCT02622061
17Natural History of BronchiectasisRecruitingNCT00943514
18Infant Nasal Nitric Oxide Levels in Congenital Heart DiseaseRecruitingNCT02551107
19Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
20Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
21Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167
22Screening for Primary Ciliary Dyskinesia Using Nasal Nitric OxideNot yet recruitingNCT00739817
23Registry Study on Primary Ciliary Dyskinesia in Chinese ChildrenNot yet recruitingNCT02704455
24Chest Physiotherapy and Lung Function in Primary Ciliary DyskinesiaNot yet recruitingNCT01929356
25In Vivo Measurements of Nasal Ciliary Beat Frequency by Using InterferometryNot yet recruitingNCT02699177
26Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)Not yet recruitingNCT00686309
27Lateral Rectus Muscle and Anterior Segment Optical Coherence Tomography (AS-OCT) in Two Recession SurgeriesNot yet recruitingNCT02450162
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 Dyskinesia25 23 RSPH9
2 Immotile Cilia25

Anatomical Context for Primary Ciliary Dyskinesia

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MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

34
Lung, Brain, Heart, Testes, 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

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

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MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.7ARMC4, CCDC39, DNAAF3, DNAH1, DNAH11, DNAH5

Publications for Primary Ciliary Dyskinesia

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Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 461)
idTitleAuthorsYear
1
ZMYND10 - Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia. (26824761)
2016
2
Nasal versus tracheobronchial biopsies to diagnose primary ciliary dyskinesia: A meta-analysis. (27312809)
2016
3
Clinical characteristics, functional respiratory decline and follow-up in adult patients with primary ciliary dyskinesia. (27382041)
2016
4
Study protocol, rationale and recruitment in a European multi-centre randomized controlled trial to determine the efficacy and safety of azithromycin maintenance therapy for 6A months in primary ciliary dyskinesia. (27450411)
2016
5
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. (25926987)
2015
6
Mannose-binding lectin 2 gene polymorphism and lung damage in primary ciliary dyskinesia. (24753481)
2015
7
Genetics and biology of primary ciliary dyskinesia. (26476603)
2015
8
Clinical features of childhood primary ciliary dyskinesia by genotype and ultrastructural phenotype. (25493340)
2015
9
A longitudinal study of lung bacterial pathogens in patients with primary ciliary dyskinesia. (26341913)
2015
10
Peripheral Vestibular Dysfunction in Patients with Primary Ciliary Dyskinesia: Abnormal Otoconial Development? (25226371)
2014
11
Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy. (24577564)
2014
12
Nasal NO, high-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete. (24933010)
2014
13
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (23849778)
2013
14
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. (23815669)
2013
15
Acute hypoxemia in a parturient with primary ciliary dyskinesia following the administration of intravenous oxytocin: a case report. (24092478)
2013
16
Primary ciliary dyskinesia. Recent advances in diagnostics, genetics, and characterization of clinical disease. (23796196)
2013
17
Aerobic fitness in children and young adults with primary ciliary dyskinesia. (23977038)
2013
18
Managing upper respiratory tract complications of primary ciliary dyskinesia in children. (22157161)
2012
19
Progression of lung disease in primary ciliary dyskinesia: is spirometry less accurate than CT? (22006708)
2012
20
Middle ear ventilation in children with primary ciliary dyskinesia. (22883987)
2012
21
The emerging genetics of primary ciliary dyskinesia. (21926394)
2011
22
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. (19840971)
2010
23
Primary ciliary dyskinesia demonstrating atypical presentation of Kartagener's syndrome. (20720372)
2010
24
Primary ciliary dyskinesia that responded to long-term, low-dose clarithromycin. (20647663)
2010
25
Population specificity of the DNAI1 gene mutation spectrum in primary ciliary dyskinesia (PCD). (21143860)
2010
26
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. (19948909)
2009
27
Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. (19770168)
2009
28
Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. (17698172)
2008
29
Nasal nitric oxide for early diagnosis of familial primary ciliary dyskinesia. (18426950)
2008
30
Situs inversus totalis and primary ciliary dyskinesia (Kartagener's syndrome) in a horse. (18371039)
2008
31
Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. (18026660)
2007
32
Primary ciliary dyskinesia: clinical presentation, diagnosis and genetics. (16203616)
2005
33
Atypical sinusitis in adults must lead to looking for cystic fibrosis and primary ciliary dyskinesia. (15126740)
2004
34
Handedness and situs inversus in primary ciliary dyskinesia. (15615683)
2004
35
Absence of nexin links as a possible cause of primary ciliary dyskinesia. (12746204)
2003
36
Aspirin intolerance in boy with primary ciliary dyskinesia. (12622751)
2003
37
Freeze fracture study of airway epithelium from patients with primary ciliary dyskinesia. (11923559)
2002
38
Primary ciliary dyskinesia with situs inversus totalis, hydrocephalus internus and cardiac malformations in a dog. (11480901)
2001
39
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. (11110460)
2000
40
Computer-assisted analysis of radial symmetry in human airway epithelial cilia: assessment of congenital ciliary defects in primary ciliary dyskinesia. (10914428)
2000
41
Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. (8630555)
1996
42
Primary ciliary dyskinesia (the immotile cilia syndrome). (7998657)
1994
43
Primary ciliary dyskinesia in the dog. (1643316)
1992
44
Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects. (2738166)
1989
45
Chronic pneumonia in a child with primary ciliary dyskinesia. (3258715)
1988
46
Primary ciliary dyskinesia: cytological and clinical features. (2975807)
1988
47
Upper airway manifestations of primary ciliary dyskinesia. (4056588)
1985
48
Nasal cilia in normal man, primary ciliary dyskinesia and other respiratory diseases: analysis of motility and ultrastructure. (6225660)
1983
49
Rhinitis, sinusitis and otitis media in Kartagener's syndrome (primary ciliary dyskinesia). (6984375)
1982
50
Primary ciliary dyskinesia. (6115234)
1981

Variations for Primary Ciliary Dyskinesia

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Clinvar genetic disease variations for Primary Ciliary Dyskinesia:

5 (show all 110)
id Gene Variation Type Significance SNP ID Assembly Location
1CCNONM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs)duplicationPathogenicrs587777498GRCh38Chr 5, 55233272: 55233276
2CCNONM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs)duplicationPathogenicrs587777499GRCh38Chr 5, 55233262: 55233266
3CCNONM_021147.4(CCNO): c.926delC (p.Pro309Argfs)deletionPathogenicrs587777500GRCh38Chr 5, 55231502: 55231502
4CCNONM_021147.4(CCNO): c.961C> T (p.Gln321Ter)single nucleotide variantPathogenicrs587777501GRCh38Chr 5, 55231467: 55231467
5CCNONM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs)duplicationPathogenicrs587777502GRCh38Chr 5, 55233257: 55233261
6CCNONM_021147.4(CCNO): c.481_482delCT (p.Leu161Glyfs)deletionPathogenicrs587777503GRCh38Chr 5, 55232446: 55232447
7CCDC151NM_145045.4(CCDC151): c.925G> T (p.Glu309Ter)single nucleotide variantPathogenicrs587777779GRCh38Chr 19, 11426182: 11426182
8CCDC151NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter)single nucleotide variantPathogenicrs587777780GRCh37Chr 19, 11533390: 11533390
9DNAH8NM_001206927.1(DNAH8): c.2419C> T (p.Arg807Ter)single nucleotide variantPathogenicrs567050969GRCh38Chr 6, 38786788: 38786788
10NC_000016.9: g.(?_84178865)_(84211524_?)deldeletionPathogenicGRCh37Chr 16, 84178865: 84211524
11CCDC39NM_181426.1(CCDC39): c.526_527delCT (p.Leu176Alafs)deletionPathogenicrs780175755GRCh37Chr 3, 180377547: 180377548
12DNAH5NM_001369.2(DNAH5): c.8998C> T (p.Arg3000Ter)single nucleotide variantPathogenicrs769054713GRCh38Chr 5, 13777309: 13777309
13DNAAF2NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs)duplicationPathogenicrs397515341GRCh38Chr 14, 49633936: 49633951
14DNAH5NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter)single nucleotide variantPathogenicrs771663107GRCh37Chr 5, 13865784: 13865784
15DNAAF2NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs)deletionPathogenicrs797045146GRCh38Chr 14, 49635119: 49635119
16RSPH4ANM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs)duplicationPathogenicrs797045147GRCh37Chr 6, 116937952: 116937952
17LRRC6NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs)deletionPathogenicrs760123202GRCh37Chr 8, 133645009: 133645009
18ARMC4NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs145742175GRCh38Chr 10, 27944296: 27944296
19RSPH1NM_080860.3(RSPH1): c.366G> A (p.Arg122=)single nucleotide variantPathogenicrs797045148GRCh37Chr 21, 43905914: 43905914
20RSPH1NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22)single nucleotide variantPathogenicrs200382776GRCh37Chr 21, 43897396: 43897396
21SPAG1NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs)deletionPathogenicrs797045149GRCh37Chr 8, 101203687: 101203691
22C21orf59NM_021254.2(C21orf59): c.735C> G (p.Tyr245Ter)single nucleotide variantPathogenicrs202094637GRCh38Chr 21, 32602299: 32602299
23CCDC65NP_149115.2: p.Ile293ProfsTer2deletionPathogenic
24CCNONM_021147.4(CCNO): c.716A> G (p.His239Arg)single nucleotide variantPathogenicrs797045150GRCh37Chr 5, 54527540: 54527540
25DNAH1NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln)single nucleotide variantPathogenicrs544674332GRCh37Chr 3, 52387629: 52387629
26MCIDASNM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter)single nucleotide variantPathogenicrs777031813GRCh37Chr 5, 54518169: 54518169
27MCIDASNM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp)single nucleotide variantPathogenicrs797045151GRCh37Chr 5, 54516255: 54516255
28MCIDASNM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His)single nucleotide variantPathogenicrs797045152GRCh37Chr 5, 54516210: 54516210
29RSPH3NM_031924.4(RSPH3): c.631-2A> Gsingle nucleotide variantPathogenicrs142800871GRCh37Chr 6, 159407455: 159407455
30DNAH5NM_001369.2(DNAH5): c.(?_-1)_(*1_?)deldeletionPathogenic
31DNAH5NM_001369.2(DNAH5): c.13126-2A> Csingle nucleotide variantPathogenicrs863224503GRCh38Chr 5, 13708337: 13708337
32DNAH5NM_001369.2(DNAH5): c.9502C> T (p.Arg3168Ter)single nucleotide variantPathogenicrs863224504GRCh38Chr 5, 13770852: 13770852
33CCDC40NM_017950.3(CCDC40): c.3097A> T (p.Lys1033Ter)single nucleotide variantPathogenicrs863224519GRCh38Chr 17, 80097320: 80097320
34CCDC40NM_017950.3(CCDC40): c.961C> T (p.Arg321Ter)single nucleotide variantPathogenicrs754867753GRCh38Chr 17, 80050085: 80050085
35CCDC39NM_181426.1(CCDC39): c.1644delT (p.Asp548Glufs)deletionPathogenicrs863224531GRCh38Chr 3, 180644141: 180644141
36CCDC39NM_181426.1(CCDC39): c.610-2A> Gsingle nucleotide variantPathogenicrs756235547GRCh38Chr 3, 180659582: 180659582
37DNAH5NM_001369.2(DNAH5): c.4605dupT (p.Ile1536Tyrfs)duplicationPathogenicrs864622512GRCh38Chr 5, 13862739: 13862739
38DNAH5NM_001369.2(DNAH5): c.6335_6336insT (p.Gln2112Hisfs)insertionPathogenicrs779506456GRCh37Chr 5, 13829727: 13829728
39DNAH5NM_001369.2(DNAH5): c.5281C> T (p.Arg1761Ter)single nucleotide variantPathogenicrs148891849GRCh37Chr 5, 13842004: 13842004
40DNAH5NM_001369.2(DNAH5): c.5557A> T (p.Lys1853Ter)single nucleotide variantPathogenicrs748618094GRCh38Chr 5, 13841058: 13841058
41DNAH5NM_001369.2(DNAH5): c.6249G> A (p.Met2083Ile)single nucleotide variantLikely pathogenic, Pathogenicrs753614861GRCh37Chr 5, 13830135: 13830135
42CCDC40NM_017950.3(CCDC40): c.940-2A> Gsingle nucleotide variantPathogenicrs750708201GRCh37Chr 17, 78023861: 78023861
43DNAH11NM_001277115.1(DNAH11): c.4333C> T (p.Arg1445Ter)single nucleotide variantPathogenicrs72657316GRCh38Chr 7, 21619178: 21619178
44DNAH11NM_001277115.1(DNAH11): c.6244C> T (p.Arg2082Ter)single nucleotide variantPathogenicrs200693106GRCh38Chr 7, 21702773: 21702773
45DNAI1NM_012144.3(DNAI1): c.336delC (p.Asp114Thrfs)deletionPathogenicrs876657683GRCh37Chr 9, 34489395: 34489395
46DNAI2NM_023036.4(DNAI2): c.1304G> A (p.Trp435Ter)single nucleotide variantPathogenicrs752924362GRCh38Chr 17, 74309345: 74309345
47DNAH11NM_001277115.1(DNAH11): c.10324C> T (p.Gln3442Ter)single nucleotide variantPathogenicrs72657393GRCh38Chr 7, 21808041: 21808041
48DNAH11NM_001277115.1(DNAH11): c.11381T> A (p.Leu3794Ter)single nucleotide variantPathogenicrs878854435GRCh37Chr 7, 21904160: 21904160
49DNAH11NM_001277115.1(DNAH11): c.3122G> A (p.Trp1041Ter)single nucleotide variantPathogenicrs878854441GRCh38Chr 7, 21600797: 21600797
50DNAH11NM_001277115.1(DNAH11): c.4438C> T (p.Arg1480Ter)single nucleotide variantPathogenicrs72657321GRCh37Chr 7, 21659634: 21659634
51DNAH11NM_001277115.1(DNAH11): c.4621C> T (p.Arg1541Ter)single nucleotide variantPathogenicrs757013900GRCh37Chr 7, 21675609: 21675609
52DNAH11NM_001277115.1(DNAH11): c.7140_7141delAT (p.Val2382Serfs)deletionPathogenicrs878854445GRCh38Chr 7, 21720730: 21720731
53DNAH11NM_001277115.1(DNAH11): c.8610C> G (p.Tyr2870Ter)single nucleotide variantPathogenicrs878854446GRCh37Chr 7, 21788297: 21788297
54DNAH5NM_001369.2(DNAH5): c.10384C> T (p.Gln3462Ter)single nucleotide variantPathogenicrs571919972GRCh38Chr 5, 13758881: 13758881
55DNAH5NM_001369.2(DNAH5): c.3291dupA (p.Pro1098Thrfs)duplicationPathogenicrs762081081GRCh38Chr 5, 13876789: 13876789
56DNAH5NM_001369.2(DNAH5): c.5114+1G> Csingle nucleotide variantPathogenicrs878854457GRCh37Chr 5, 13850760: 13850760
57DNAH5NM_001369.2(DNAH5): c.6508dupA (p.Arg2170Lysfs)duplicationPathogenicrs878854458GRCh38Chr 5, 13824270: 13824270
58DNAH5NM_001369.2(DNAH5): c.7034G> A (p.Trp2345Ter)single nucleotide variantPathogenicrs755596256GRCh37Chr 5, 13814910: 13814910
59DNAH5NM_001369.2(DNAH5): c.8029C> T (p.Arg2677Ter)single nucleotide variantPathogenicrs775946081GRCh37Chr 5, 13793819: 13793819
60DNAI1NM_012144.3(DNAI1): c.1307G> A (p.Trp436Ter)single nucleotide variantPathogenicrs769284314GRCh37Chr 9, 34506868: 34506868
61DNAI1NM_012144.3(DNAI1): c.1644G> A (p.Trp548Ter)single nucleotide variantPathogenicrs200669099GRCh37Chr 9, 34514466: 34514466
62DNAI1NM_012144.3(DNAI1): c.912C> G (p.Tyr304Ter)single nucleotide variantPathogenicrs878854968GRCh38Chr 9, 34500732: 34500732
63DNAAF5NM_017802.3(DNAAF5): c.2353_2354delAG (p.Ser785Glnfs)deletionPathogenicrs878855036GRCh37Chr 7, 819703: 819704
64CCDC40NM_017950.3(CCDC40): c.1620delC (p.Ile541Serfs)deletionPathogenicrs878855041GRCh37Chr 17, 78055402: 78055402
65CCDC40NM_017950.3(CCDC40): c.2852dupT (p.Lys952Glufs)duplicationPathogenicrs878855042GRCh38Chr 17, 80095282: 80095282
66CCDC39NM_181426.1(CCDC39): c.1073_1076delCAAA (p.Thr358Asnfs)deletionPathogenicrs878855279GRCh38Chr 3, 180651492: 180651495
67CCDC39NM_181426.1(CCDC39): c.163_164delAT (p.Met55Aspfs)deletionPathogenicrs878855280GRCh38Chr 3, 180663913: 180663914
68CCDC39NM_181426.1(CCDC39): c.830_831delCA (p.Thr277Argfs)deletionPathogenicrs773801386GRCh38Chr 3, 180654861: 180654862
69DNAAF1NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203783
70DNAAF1NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg)single nucleotide variantPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
71DNAL1NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser)single nucleotide variantPathogenicrs387907021GRCh37Chr 14, 74156135: 74156135
72CCDC39NM_181426.1(CCDC39): c.357+1G> Csingle nucleotide variantPathogenicrs397515392GRCh37Chr 3, 180379648: 180379648
73CCDC40NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs)deletionPathogenicrs397515393GRCh37Chr 17, 78013765: 78013765
74DNAAF3NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)single nucleotide variantPathogenicrs387907151GRCh37Chr 19, 55677272: 55677272
75DNAAF3NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)single nucleotide variantPathogenicrs387907152GRCh37Chr 19, 55676795: 55676795
76DNAAF3NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs)duplicationPathogenicrs397515395GRCh37Chr 19, 55673053: 55673053
77CCDC103NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs)duplicationPathogenicrs587776910GRCh37Chr 17, 42979839: 42979839
78CCDC103NM_213607.2(CCDC103): c.461A> C (p.His154Pro)single nucleotide variantPathogenicrs145457535GRCh37Chr 17, 42979917: 42979917
79DNAH11NM_001277115.1(DNAH11): c.8698C> T (p.Arg2900Ter)single nucleotide variantPathogenicrs368260932GRCh37Chr 7, 21789320: 21789320
80CCDC114NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr)single nucleotide variantPathogenicrs147718607GRCh37Chr 19, 48807210: 48807210
81DNAH5NM_001369.2(DNAH5): c.1121T> C (p.Ile374Thr)single nucleotide variantPathogenicrs147499872GRCh37Chr 5, 13916533: 13916533
82HYDINNM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu)single nucleotide variantPathogenicrs397515413GRCh37Chr 16, 71022036: 71022036
83HYDINNM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter)single nucleotide variantPathogenicrs397515414GRCh37Chr 16, 71171175: 71171175
84DNAI2NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54)single nucleotide variantPathogenicrs397515358GRCh37Chr 17, 72283113: 72283113
85RSPH4ANM_001010892.2(RSPH4A): c.460C> T (p.Gln154Ter)single nucleotide variantPathogenicrs118204041GRCh37Chr 6, 116938246: 116938246
86DNAAF2NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter)single nucleotide variantPathogenicrs137853191GRCh37Chr 14, 50101845: 50101845
87DRC1NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter)single nucleotide variantPathogenicrs587776997GRCh37Chr 2, 26677651: 26677651
88DRC1NM_145038.4(DRC1): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs142371860GRCh37Chr 2, 26644264: 26644264
89DNAI1NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12)duplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
90DNAI1NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs)insertionPathogenicrs606231164GRCh38Chr 9, 34489343: 34489344
91DNAI1NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser)single nucleotide variantPathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
92DNAI1NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del)deletionPathogenicrs606231165GRCh38Chr 9, 34514482: 34514493
93DNAH5NM_001369.2(DNAH5): c.10815delT (p.Pro3606Hisfs)deletionPathogenicrs397515540GRCh37Chr 5, 13753399: 13753399
94DNAI1NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp)single nucleotide variantPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
95DNAI1NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del)single nucleotide variantPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466
96DNAI2NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del)single nucleotide variantPathogenicrs397515565GRCh37Chr 17, 72306303: 72306303
97ZMYND10NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly)single nucleotide variantPathogenicrs138815960GRCh37Chr 3, 50382964: 50382964
98ZMYND10NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro)single nucleotide variantPathogenicrs200913791GRCh37Chr 3, 50379904: 50379904
99ARMC4NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp)single nucleotide variantPathogenicrs587777047GRCh37Chr 10, 28151382: 28151382
100RSPH1NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs138320978GRCh37Chr 21, 43913159: 43913159
101RSPH1NM_080860.3(RSPH1): c.366-3C> Asingle nucleotide variantPathogenicrs587777058GRCh37Chr 21, 43905917: 43905917
102RSPH1NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs)deletionPathogenicrs587777059GRCh37Chr 21, 43905870: 43905873
103RSPH1NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10)single nucleotide variantPathogenicrs151107532GRCh37Chr 21, 43906573: 43906573
104RSPH9NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del)deletionPathogenicrs397515340GRCh37Chr 6, 43638659: 43638661
105SPAG1NC_000008.10: g.101163845_101175817deldeletionPathogenic
106SPAG1NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter)single nucleotide variantPathogenicrs201740530GRCh37Chr 8, 101245664: 101245664
107CCDC65NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs)deletionLikely pathogenic, Pathogenicrs863223325GRCh37Chr 12, 49312537: 49312538
108C21orf59NM_021254.2(C21orf59): c.292C> T (p.Arg98Ter)single nucleotide variantPathogenicrs143740376GRCh37Chr 21, 33982163: 33982163
109C21orf59NM_021254.2(C21orf59): c.792_795delTTTA (p.Tyr264Terfs)deletionPathogenicrs398122401GRCh37Chr 21, 33974251: 33974254
110RSPH4ANM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8)deletionPathogenicrs869320683GRCh38Chr 6, 116623005: 116623008

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:

idNameGO IDScoreTop Affiliating Genes
1dynein complexGO:003028610.7DNAH1, DNAH11
2axonemal dynein complexGO:000585810.6DNAH1, DNAH5, DNAI2
3ciliumGO:000592910.5CCDC114, DNAI1, LRRC6
4outer dynein armGO:003615710.4CCDC114, DNAH5, DNAI1, DNAI2
5cytoskeletonGO:000585610.3ARMC4, CCDC39, DNAI1, RSPH4A, RSPH9
6motile ciliumGO:003151410.3CCDC103, DNAAF5, RSPH1, RSPH4A, RSPH9
7microtubuleGO:000587410.3DNAH1, DNAH11, DNAH5, DNAI1, DNAI2
8sperm flagellumGO:003612610.2DNAH1, DNAI2, RSPH1
9axonemeGO:00059309.8ARMC4, CCDC103, CCDC114, CCDC39, DNAAF1, DNAH5
10cytoplasmGO:00057378.8ARMC4, CCDC103, CCDC39, CCNO, DNAAF1, DNAAF3

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

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1cilium movement involved in cell motilityGO:006029410.7DNAH1, RSPH9
2determination of pancreatic left/right asymmetryGO:003546910.7CCDC39, DNAAF1
3axoneme assemblyGO:003508210.7RSPH1, RSPH4A, RSPH9
4determination of liver left/right asymmetryGO:007191010.7CCDC39, DNAAF1
5determination of digestive tract left/right asymmetryGO:007190710.6CCDC103, CCDC39, DNAAF1
6heart loopingGO:000194710.6CCDC103, CCDC39, DNAAF1
7regulation of cilium beat frequencyGO:000335610.5ARMC4, CCDC39, DNAAF1, DNAH11
8lateral ventricle developmentGO:002167010.5DNAH5, DPCD
9epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.5CCDC103, CCDC39, DNAAF1, LRRC6
10cilium assemblyGO:004238410.5CCNO, DNAH5, DNAI2
11ventricular system developmentGO:002159110.4ARMC4, DPCD
12left/right pattern formationGO:006097210.4DNAAF1, DPCD
13axonemal dynein complex assemblyGO:007028610.3CCDC103, CCDC39, DNAAF1, DNAAF3
14motile cilium assemblyGO:004445810.2CCDC39, DNAAF1, DNAAF3, LRRC6, RSPH9, ZMYND10
15epithelial cilium movementGO:000335110.2DNAH1, DNAI1, DPCD
16heart developmentGO:000750710.1ARMC4, CCDC39, DNAH11, DNAH5, DNAI1
17inner dynein arm assemblyGO:003615910.1CCDC103, CCDC39, DNAAF1, DNAAF5, DNAH1, LRRC6
18determination of left/right symmetryGO:00073689.8ARMC4, CCDC39, DNAH11, DNAH5, DNAI1, DNAI2
19outer dynein arm assemblyGO:00361589.5ARMC4, CCDC103, CCDC114, DNAAF1, DNAAF5, DNAH5
20sperm motilityGO:00303179.5CCDC39, DNAH1, DNAH11, DNAH5, DNAI1, DPCD
21cilium movementGO:00033419.1ARMC4, CCDC103, CCDC114, CCDC39, DNAAF1, DNAAF5

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

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:000377710.1DNAH1, DNAH11, DNAH5, DNAI2
2ATPase activityGO:00168879.9DNAH1, DNAH11, DNAH5

Sources for Primary Ciliary Dyskinesia

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2CDC
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