MCID: PRM011
MIFTS: 54

Primary Ciliary Dyskinesia malady

Genetic diseases, Rare diseases, Respiratory diseases categories

Aliases & Classifications for Primary Ciliary Dyskinesia

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Aliases & Descriptions for Primary Ciliary Dyskinesia:

Name: Primary Ciliary Dyskinesia 32 10 68 21 45 23 12
Immotile Cilia Syndrome 21 45 22 23
Ciliary Dyskinesia Primary 45 22 24
Ciliary Motility Disorders 65 36
Pcd 22 23
 
Ciliary Motility Disorder 10
Immotile Ciliary Syndrome 10
Polynesian Bronchiectasis 45
Kartagener Syndrome 65
Ics 45


Classifications:



External Ids:

Disease Ontology10 DOID:9562
MeSH36 D002925
SNOMED-CT59 9057007, 86204009
NCIt42 C84638

Summaries for Primary Ciliary Dyskinesia

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NIH Rare Diseases:45 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 bronchiectasis and kartagener syndrome. An important gene associated with Primary Ciliary Dyskinesia is RSPH9 (Radial Spoke Head 9 Homolog (Chlamydomonas)). Affiliated tissues include lung, brain and testes, and related mouse phenotype respiratory system.

Disease Ontology:10 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:23 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:68 Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare,... 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, 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 643)
idRelated DiseaseScoreTop Affiliating Genes
1bronchiectasis31.8DNAH5, DNAI1
2kartagener syndrome10.9
3situs inversus10.9
4ciliary dyskinesia, primary, 1, with or without situs inversus10.9
5congenital heart disease10.8
6cystic fibrosis10.8
7dextrocardia with situs inversus10.8
8dextrocardia10.8
9bronchial disease10.8
10congenital nervous system abnormality10.7
11movement disease10.7
12neurologic diseases10.7
13respiratory system disease10.7
14immotile cilia syndrome, due to defective radial spokes10.7
15child syndrome10.7
16kid syndrome10.7
17anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.6
18ciliary dyskinesia, primary, 510.6
19ciliary dyskinesia, primary, 210.6
20hydrocephalus10.6
21primary ciliary dyskinesia 1: dnai1-related primary ciliary dyskinesia10.6
22primary ciliary dyskinesia 2: dnaaf3-related primary ciliary dyskinesia10.6
23primary ciliary dyskinesia 3: dnah5-related primary ciliary dyskinesia10.6
24primary ciliary dyskinesia 5: hydin-related primary ciliary dyskinesia10.6
25primary ciliary dyskinesia 6: nme8-related primary ciliary dyskinesia10.6
26primary ciliary dyskinesia 7: dnah11-related primary ciliary dyskinesia10.6
27primary ciliary dyskinesia 9: dnai2-related primary ciliary dyskinesia10.6
28coronary heart disease 510.6
29ciliary dyskinesia, primary, 410.6
30ciliary dyskinesia, primary, 810.6
31ciliary dyskinesia, primary, 2010.6
32cork-handlers' disease10.6
33congenital pulmonary airway malformation10.6
34chronic interstitial cystitis10.5
35cystitis10.5
36asthma10.5
37ciliary dyskinesia, primary, 1410.5
38ciliary dyskinesia, primary, 9, with or without situs inversus10.5
39spondylosis10.5
40ciliopathy10.5
41nose disease10.5
42primary ciliary dyskinesia10: dnaaf2-related primary ciliary dyskinesia10.5
43bladder disease10.5
44ciliary dyskinesia with excessively long cilia10.5
45ciliary dyskinesia, primary, 2110.4
46short syndrome10.4
47ciliary dyskinesia, primary, 1110.4
48ciliary dyskinesia, primary, 1810.4
49ciliary dyskinesia, primary, 2810.4
50ciliary dyskinesia, primary, 1910.4

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AzithromycinapprovedPhase 330983905-01-555185, 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 Oxideapproved54010102-43-9145068
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)
Inomax
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
Mentholapproved17482216-51-516666
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
999 Itch Relief
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
Absorbine Back Therapeutic Pain Relief
Absorbine Jr
Absorbine Jr Ultra Strength Pain Relieving
Absorbine Jr.
Absorbine Jr. Back
Algomend Pain Relief
Alhua Huogan Pain Relieving Patch
Aloemint Skin Aid
Amar Ice
Analgesic
Anc Neverpain External Analgesic
Anti Itch
Army Health Pain Reliever
Arthri-support
Arthri-zen Relief
Arthripain Relief
Arthritis Relief
Aspercreme Heat
Aspercreme Max No Mess Roll On
Assured Cold N Hot Pain Relief Menthol
Assured Extra Strength Cold N Hot
Assured Ice Cold Topical Analgesic
Assured Muscle Rub
Assured Pain Relief Hot Menthol
Atopalm Pain Relieving
Aurorae Healing Pain Relieving Roll-on
Avapta
Avedana Pain Relieving Roll On
Avedana Pain-relieving
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
Babyganics Cold Relief Chest Rub
Barox
Barox BODY CARE MASSAGE
Barox Body Care Massage Relax Refresh Revital
Being Well Extra Strength Menthol Heat
Bengay Ultra Strength Large Size
Bengay Ultra Strength Pain Relieving Large Size
Bengay Ultra Strength Pain Relieving Regular Size
Bengay Ultra Strength Regular Size
Bengay Vanishing Scent
Bengay Zero Degrees Menthol Pain Relieving
Bentasil SUGAR FREE BLACKCURRANT SOFT Texture
Bentasil SUGAR FREE CHERRY SOFT Texture
Bentasil SUGAR FREE HONEY LEMON SOFT Texture
Berri-freez
Besthealth Cherry
Besthealth Cough Suppressant Sugar Free Black Cherry Flavor
Besthealth Cough Suppressant Sugar Free Honey Lemon Flavor
Besthealth Honey Lemon
Besthealth Menthol
Bio 2 Brazilian Heat Brazilian Heat
Bio-scriptives Extreme Pr
Bioblast Pain Relief
Bioflexor
Biofreeze
Biofreeze Colorless
Biofreeze Colorless Roll-on
Biofreeze Roll-on
Biorelief Ice Pain Relieving
Blistex Ivarest Medicated Poison Ivy Cleansing Foam
Blue Gel Pain Relieving
Blue Ice
Blue Ice Analgesic
Blue Ice Analgesic Gel
Blue Ice Pain Relieving
Body
Budpack Muscle Rub
Budpak Muscle Rub
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Canker Complete Canker Sore Relief
Caswell No. 540
Celadrin
Cepacol Sore Throat From Post Nasal Drip
Cepacol Sore Throat Regular Strength
Ching Wan Hung Soothing Herbal Balm
Choice Personal Care Theraputic Blue Ice
Cold Hot Patch
Cold Spot Point Relief
Coldaid
Cool N Heat Patch For Back Extra Strength
Coralite Extra Strength Menthol Pain Relief Sleeve - Knee
Coralite Extra Strength Menthol Pain Relief Sleeve - Wrist
Coralite Pain Relief
Counteract Cough Drops Honey Lemon
Counteract Cough Drops Orchard Cherry
Cryogel Island Rain Natural Pain Relieving Vitaminerals
Cvs Cold Hot Medicated
Cvs Soothing Itch Relief
Cvs Sore Muscle Rub Vanishing Scent
Cvs Therapeutic Menthol Gel
Cvs Therapeutic Menthol Pain Reliever
Cvs Tropical Citrus Cough
Cvs Ultra Strength Pain Relieving
Cvs Vanishing Scent Muscle Rub
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
Dg Health Extra Strength Medicated
Dg Health Pain Relieving
Dg Ice Cold Analgesic
Diapedic Foot Treatment
DivK1c_000820
Dorflex Icy Hot Flexible, Large
Dorflex Icy Hot Flexible, Small
Dorflex Icy Hot Flexible, XL
Dr. Blue
Dt Ice Cold Analgesic
Dual Action Cherry Cough Suppressant Oral Anesthetic
Dynafreeze
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
Easy
Eb301ap Pain Relief
Eb301ct Bruise Pain Relief
Eb302 Arthritis Relief
Ecolyptus Pain Relieving Muscle Rub
Efac Pain Relieving
Elgin Pain Relief
Equaline Blue Ice Pain Relieving
Equate Menthol Extra Strength
Eros Iron Man
Eucalyptamint
Eucerin Calming Itch Relief Treatment
Extra Strength Cold N Hot Pain Relief Medicated
Extra Strength Pain Relief Therapy
Extra Strength Stopain Cold Pain Relieving
Extra Strength Stopain Cold Pain Relieving Roll On
FEMA No. 2665
Family Care Maximum Strength Medicated Anti Itch
Fast Freeze
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
Flexall Pain Relieving
Flexgen
Fluaid
Foot Works Achy Foot Massager Pain Relieving
Gold Bond Foot Extra Strength
Gold Bond Medicated Foot
Gold Bond Pain Relieving Foot
Gold Bond Pain Relieving Foot Roll On
Green Bamboo
Green Guard Cough Drop Relief
HMS1922G13
HMS2092L14
HMS502I22
HSDB 5662
HSDB 593
Halls Apple Cider
Halls Butterscotch
Halls Cherry
Halls Extra Strong Menthol
Halls Honey Lemon
Halls Ice Peppermint
Halls MENTHO-LYPTUS
Halls Melon Splash
Halls Menthol
Halls Mentholyptus
Halls Mocha Mint
Halls Naturals Honey Lemon Chamomile
Halls Plus Cherry
Halls Plus Honey
Halls Plus Strawberry
Halls Spearmint
Halls Strawberry
Halls Sugar Free Black Cherry
Halls Sugar Free Citrus Blend
Halls Sugar Free Extra Strong Menthol
Halls Sugar Free Honey Berry
Halls Sugar Free Honey Lemon
Halls Sugar Free Mountain Menthol
Halls Tropical Fruit
Hallsmelon Splash Melon Splash
Hallssugar Free Extra Sugar Free Extra Strong Menthol
Han Honey Loquat Syrup
Hanbang Cataplasma
Harmon Extra Strength Pain Relieving
Harmon Extra Strength Pain Relieving Roll-on
Headache crystals
Health Smart Medicated Foot
Herbion Naturals Honey Lemon
Herbion Naturals Honey Lemon Cough Drops
Herbion Naturals Honey-Lemon Cough Drops
Herbion Naturals Mint Cough Drops
Herbion Naturals Orange
Herbion Naturals Orange Cough Drops
Hexahydrothymol
Hielo Ardiente
Honibe
 
Hot Ice Soothing Analgesic Gel
Huitomi Slimming Sports
Humphreys Bendito Alcoholado
I06-1216
I14-7371
IDI1_000820
Ice
Ice Cold Analgesic
Ice Cold Topical Analgesic Gel
Ice External Analgesic Leader
Ice Quake
Ice Quake Muscle Rub
Icy Cool Maximum Strength
Icy Hot
Icy Hot Back
Icy Hot Medicated
Icy Hot Medicated No Mess Applicator
Icy Hot Medicated Roll Large
Icy Hot Medicated Roll Medium
Icy Hot Medicated Roll, Large
Icy Hot Medicated Roll, Medium
Icy Hot Medicated, Advanced Relief
Icy Hot Medicated, Back
Icy Hot Medicated, XL
Icy Hot Naturals
Icy Hot Power Gel
Icy Hot Vanishing Scent
Icyhot Medicated
Imada Four Seasons Safe Analgesic Balm
Jakemans Blueberry
Jakemans Cherry
Jakemans Peppermint
K2 Cold Therapy
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
Kay Medic Menthol Pain Relief
Kool Comfort
Kool Comfort Pain Relieving Roll-on
Kpp Triple Action
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
La Jiao Feng Shi Gao
Lander Polar Ice
Leader Cough Drops Cherry Flavor
Leader Cough Drops Honey Lemon
Leader Cough Drops Menthol Flavor
Leader Extra Strength Medicated Pain Relief Patch
Leader Sugar Free Cough Drops Black Cherry
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
Linkus Lozenges Cough Suppressant/Oral Anesthetic
Low Sugar Cherry Flavor Fishermans Friend Menthol Cough Suppressant
Ludens Honey Lemon Throat Drops
Ludens Honey Licorice Throat Drops
Ludens Original Menthol Throat Drops
Lurosil
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Makesense Extra Strength Muscle Rub
Maxfit Freeze Gel
Maybelline New York Baby Lips Dr Rescue Medicated Balm
Medi First Plus Cherry Cough Drops
Medi-first Cherry Cough Drops
Medic Ice
Medicated Body Powder
Medicated Pain Relief
Mediflex
Medique Medikoff Drops
Medique Sugar Free Medikoff Drops
Meditowel PAIN RELIEF
Meijer Cherry Cough Drops
Meijer Honey Lemon Cough Drops
Meijer Menthol Cough Drops
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol Fresh Cough Suppressant
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Mentholatum Pain Relief Extra Strength
Mentholatum Sports Pain Relief Cold
Menthomenthol
Menthyl alcohol
Mineral Ice Pain Relieving
Miracle Foot Repair
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4Albuterol465

Interventional clinical trials:

(show all 26)
idNameStatusNCT IDPhase
1The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis BronchiectasisActive, not recruitingNCT02531984Phase 3
2Diagnosis of Primary Ciliary DyskinesiaCompletedNCT00783887
3Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary DyskinesiaCompletedNCT01155115
4Genetic Study of Patients With Primary Ciliary DyskinesiaCompletedNCT00005650
5Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
6Determination of Normal Values of Nasal Nitric Oxide in AdultsCompletedNCT02133547
7Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
8A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced AsthmaCompletedNCT01097954
9Electrical Impedance Tomography of Lung in Child and Young AgeCompletedNCT02290535
10Otolith Function in Patients With Primary Ciliary DyskinesiaRecruitingNCT01246258
11International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
12Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
13Early Detection and Characterization of Primary Ciliary DyskinesiaRecruitingNCT01070914
14Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
15Natural History of BronchiectasisRecruitingNCT00943514
16Infant Nasal Nitric Oxide Levels in Congenital Heart DiseaseRecruitingNCT02551107
17UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational ResourceRecruitingNCT01401998
18Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
19Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
20Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167
21Screening for Primary Ciliary Dyskinesia Using Nasal Nitric OxideNot yet recruitingNCT00739817
22Chest Physiotherapy and Lung Function in Primary Ciliary DyskinesiaNot yet recruitingNCT01929356
23NIOX VERO Nasal Application in Primary Ciliary DyskinesiaNot yet recruitingNCT02622061
24Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)Not yet recruitingNCT00686309
25Evaluation of the Safety of the Medical Device Simeox®TerminatedNCT02061852
26Exhaled 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

About this section

Genetic tests related to Primary Ciliary Dyskinesia:

id Genetic test Affiliating Genes
1 Primary Ciliary Dyskinesia22 24 RSPH9

Anatomical Context for Primary Ciliary Dyskinesia

About this section

MalaCards organs/tissues related to Primary Ciliary Dyskinesia:

33
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

Animal Models for Primary Ciliary Dyskinesia or affiliated genes

About this section

MGI Mouse Phenotypes related to Primary Ciliary Dyskinesia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538810.0ARMC4, CCDC39, CCDC40, DNAAF2, DNAH5, DNAI1

Publications for Primary Ciliary Dyskinesia

About this section

Articles related to Primary Ciliary Dyskinesia:

(show top 50)    (show all 416)
idTitleAuthorsYear
1
Primary ciliary dyskinesia. (25826585)
2015
2
Lung structure-function correlation in patients with primary ciliary dyskinesia. (25673230)
2015
3
Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. (25926987)
2015
4
Variation in DNAH1 may contribute to primary ciliary dyskinesia. (25927852)
2015
5
Immunofluorescence Analysis and Diagnosis of Primary Ciliary Dyskinesia with Radial Spoke Defects. (25789548)
2015
6
Peripheral Vestibular Dysfunction in Patients with Primary Ciliary Dyskinesia: Abnormal Otoconial Development? (25226371)
2014
7
Management of primary ciliary dyskinesia/Kartagener's syndrome in infertile male patients and current progress in defining the underlying genetic mechanism. (24369140)
2014
8
Is the sensitivity of primary ciliary dyskinesia detection by ciliary function analysis 100%? (24081772)
2013
9
Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects. (23993197)
2013
10
ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. (23849778)
2013
11
Cyanosis when head turned to left in an infant with primary ciliary dyskinesia. (22431414)
2013
12
Up to date on primary ciliary dyskinesia in children. (23973004)
2013
13
Lung clearance index and high-resolution computed tomography scores in primary ciliary dyskinesia. (23815669)
2013
14
A novel mutation of DNAH5 in chronic rhinosinusitis and primary ciliary dyskinesia in a Chinese family. (24150548)
2013
15
LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects. (23527195)
2013
16
Genotyping in primary ciliary dyskinesia: ready for prime time, or a fringe benefit? (22232363)
2012
17
Managing upper respiratory tract complications of primary ciliary dyskinesia in children. (22157161)
2012
18
Evaluation of pulmonary disease using static lung volumes in primary ciliary dyskinesia. (22771515)
2012
19
Mutations in axonemal dynein assembly factor DNAAF3 cause primary ciliary dyskinesia. (22387996)
2012
20
Twenty-year review of quantitative transmission electron microscopy for the diagnosis of primary ciliary dyskinesia. (22135026)
2012
21
Cardiopulmonary assessment in primary ciliary dyskinesia. (22121832)
2012
22
New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure. (20513915)
2010
23
A 20-year experience of electron microscopy in the diagnosis of primary ciliary dyskinesia. (19840971)
2010
24
Primary ciliary dyskinesia demonstrating atypical presentation of Kartagener's syndrome. (20720372)
2010
25
Primary ciliary dyskinesia--an underdiagnosed entity. (21510469)
2010
26
Conditional deletion of dnaic1 in a murine model of primary ciliary dyskinesia causes chronic rhinosinusitis. (19675306)
2010
27
Management of otitis media with effusion in children with primary ciliary dyskinesia: a literature review. (19796826)
2009
28
Primary ciliary dyskinesia: a consensus statement on diagnostic and treatment approaches in children. (19948909)
2009
29
Lung disease assessment in primary ciliary dyskinesia: a comparison between chest high-field magnetic resonance imaging and high-resolution computed tomography findings. (19660117)
2009
30
Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. (18187313)
2008
31
Quantitative analysis of ciliary ultrastructure in patients with primary ciliary dyskinesia. (17698172)
2008
32
Heterotaxia, congenital heart disease, and primary ciliary dyskinesia. (17548739)
2007
33
Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype. (17272866)
2007
34
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. (16627867)
2006
35
Movement: the emerging genetics of primary ciliary dyskinesia. (16822932)
2006
36
Absence of nexin links as a possible cause of primary ciliary dyskinesia. (12746204)
2003
37
Primary ciliary dyskinesia. (12390901)
2002
38
Use of ciliogenesis in the diagnosis of primary ciliary dyskinesia in a dog. (11110460)
2000
39
Plasma membrane polarity of polymorphonuclear leucocytes from children with primary ciliary dyskinesia. (10849021)
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
Incidence of primary ciliary dyskinesia in children with recurrent respiratory diseases. (9342982)
1997
42
Treatment of otitis media with effusion in children with primary ciliary dyskinesia. (9298603)
1997
43
Ciliary disorientation alone as a cause of primary ciliary dyskinesia syndrome. (8630555)
1996
44
Ciliary defects in healthy subjects, bronchiectasis, and primary ciliary dyskinesia. (7735615)
1995
45
Fertility in men with primary ciliary dyskinesia presenting with respiratory infection. (8066563)
1994
46
Primary Ciliary Dyskinesia (20301301)
1993
47
Primary ciliary dyskinesia in the dog. (1643316)
1992
48
Orientation of respiratory tract cilia in patients with primary ciliary dyskinesia, bronchiectasis, and in normal subjects. (2738166)
1989
49
Chronic pneumonia in a child with primary ciliary dyskinesia. (3258715)
1988
50
Nose-, sinus- and ear-symptoms in 27 patients with primary ciliary dyskinesia. (6604651)
1983

Variations for Primary Ciliary Dyskinesia

About this section

Clinvar genetic disease variations for Primary Ciliary Dyskinesia:

5 (show all 69)
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
10CCDC39NM_181426.1(CCDC39): c.526_527delCT (p.Leu176Alafs)deletionPathogenicrs780175755GRCh37Chr 3, 180377547: 180377548
11DNAH5NM_001369.2(DNAH5): c.8998C> T (p.Arg3000Ter)single nucleotide variantPathogenicrs769054713GRCh38Chr 5, 13777309: 13777309
12DNAAF2NM_018139.2(DNAAF2): c.1199_1214dup16 (p.Gly406Argfs)duplicationPathogenicrs397515341GRCh38Chr 14, 49633936: 49633951
13DNAH5NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter)single nucleotide variantPathogenicrs771663107GRCh37Chr 5, 13865784: 13865784
14DNAAF2NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs)deletionPathogenicrs797045146GRCh38Chr 14, 49635119: 49635119
15RSPH4ANM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs)duplicationPathogenicrs797045147GRCh37Chr 6, 116937952: 116937952
16LRRC6NM_012472.4(LRRC6): c.630delG (p.Trp210Cysfs)deletionPathogenicrs760123202GRCh37Chr 8, 133645009: 133645009
17ARMC4NM_018076.2(ARMC4): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs145742175GRCh37Chr 10, 28233225: 28233225
18RSPH1NM_080860.3(RSPH1): c.366G> A (p.Arg122=)single nucleotide variantPathogenicrs797045148GRCh37Chr 21, 43905914: 43905914
19RSPH1NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22)single nucleotide variantPathogenicrs200382776GRCh37Chr 21, 43897396: 43897396
20SPAG1NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs)deletionPathogenicrs797045149GRCh37Chr 8, 101203687: 101203691
21C21orf59NM_021254.2(C21orf59): c.735C> G (p.Tyr245Ter)single nucleotide variantPathogenicrs202094637GRCh38Chr 21, 32602299: 32602299
22CCNONM_021147.4(CCNO): c.716A> G (p.His239Arg)single nucleotide variantPathogenicrs797045150GRCh37Chr 5, 54527540: 54527540
23DNAH1NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln)single nucleotide variantPathogenicrs544674332GRCh37Chr 3, 52387629: 52387629
24MCIDASNM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter)single nucleotide variantPathogenicrs777031813GRCh37Chr 5, 54518169: 54518169
25MCIDASNM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp)single nucleotide variantPathogenicrs797045151GRCh37Chr 5, 54516255: 54516255
26MCIDASNM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His)single nucleotide variantPathogenicrs797045152GRCh37Chr 5, 54516210: 54516210
27RSPH3NM_031924.4(RSPH3): c.631-2A> Gsingle nucleotide variantPathogenicrs142800871GRCh37Chr 6, 159407455: 159407455
28DNAH5NM_001369.2(DNAH5): c.13126-2A> Csingle nucleotide variantPathogenicGRCh37Chr 5, 13708446: 13708446
29DNAH5NM_001369.2(DNAH5): c.9502C> T (p.Arg3168Ter)single nucleotide variantPathogenicGRCh38Chr 5, 13770852: 13770852
30CCDC40NM_017950.3(CCDC40): c.3097A> T (p.Lys1033Ter)single nucleotide variantPathogenicGRCh37Chr 17, 78071119: 78071119
31CCDC40NM_017950.3(CCDC40): c.961C> T (p.Arg321Ter)single nucleotide variantPathogenicrs754867753GRCh38Chr 17, 80050085: 80050085
32CCDC39NM_181426.1(CCDC39): c.1644delT (p.Asp548Glufs)deletionPathogenicGRCh38Chr 3, 180644141: 180644141
33CCDC39NM_181426.1(CCDC39): c.610-2A> Gsingle nucleotide variantPathogenicrs756235547GRCh37Chr 3, 180377370: 180377370
34DNAAF1NM_178452.4(DNAAF1): c.1306_1307ins156 (p.?)insertionPathogenicGRCh38Chr 16, 84170134: 84170135
35DNAAF1NM_178452.4(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203783
36DNAAF1NM_178452.4(DNAAF1): c.524T> G (p.Leu175Arg)single nucleotide variantPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
37DNAL1NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser)single nucleotide variantPathogenicrs387907021GRCh37Chr 14, 74156135: 74156135
38CCDC39NM_181426.1(CCDC39): c.357+1G> Csingle nucleotide variantPathogenicrs397515392GRCh37Chr 3, 180379648: 180379648
39CCDC40NM_017950.3(CCDC40): c.248delC (p.Ala83Valfs)deletionPathogenicrs397515393GRCh37Chr 17, 78013765: 78013765
40DNAAF3NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)single nucleotide variantPathogenicrs387907151GRCh37Chr 19, 55677272: 55677272
41DNAAF3NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)single nucleotide variantPathogenicrs387907152GRCh37Chr 19, 55676795: 55676795
42DNAAF3NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs)duplicationPathogenicrs397515395GRCh37Chr 19, 55673053: 55673053
43CCDC103NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs)duplicationPathogenicrs587776910GRCh37Chr 17, 42979839: 42979839
44CCDC103NM_213607.2(CCDC103): c.461A> C (p.His154Pro)single nucleotide variantPathogenicrs145457535GRCh37Chr 17, 42979917: 42979917
45CCDC114NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr)single nucleotide variantPathogenicrs147718607GRCh37Chr 19, 48807210: 48807210
46HYDINNM_001270974.1(HYDIN): c.3985G> T (p.Val1329Leu)single nucleotide variantPathogenicrs397515413GRCh37Chr 16, 71022036: 71022036
47HYDINNM_001270974.1(HYDIN): c.922A> T (p.Lys308Ter)single nucleotide variantPathogenicrs397515414GRCh37Chr 16, 71171175: 71171175
48DNAI2NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54)single nucleotide variantPathogenicrs397515358GRCh37Chr 17, 72283113: 72283113
49DNAAF2NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter)single nucleotide variantPathogenicrs137853191GRCh37Chr 14, 50101845: 50101845
50DRC1NM_145038.3(DRC1): c.2056A> T (p.Lys686Ter)single nucleotide variantPathogenicrs587776997GRCh37Chr 2, 26677651: 26677651
51DRC1NM_145038.3(DRC1): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs142371860GRCh37Chr 2, 26644264: 26644264
52DNAI1NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12)duplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
53DNAI1NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs)insertionPathogenicrs606231164GRCh38Chr 9, 34489343: 34489344
54DNAI1NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser)single nucleotide variantPathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
55DNAI1NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del)deletionPathogenicrs606231165GRCh38Chr 9, 34514482: 34514493
56DNAI1NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp)single nucleotide variantPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
57DNAI1NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del)single nucleotide variantPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466
58DNAI2NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del)single nucleotide variantPathogenicrs397515565GRCh37Chr 17, 72306303: 72306303
59ZMYND10NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly)single nucleotide variantPathogenicrs138815960GRCh37Chr 3, 50382964: 50382964
60ZMYND10NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro)single nucleotide variantPathogenicrs200913791GRCh37Chr 3, 50379904: 50379904
61ARMC4NM_018076.2(ARMC4): c.2780T> G (p.Leu927Trp)single nucleotide variantPathogenicrs587777047GRCh37Chr 10, 28151382: 28151382
62RSPH1NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs138320978GRCh37Chr 21, 43913159: 43913159
63RSPH1NM_080860.3(RSPH1): c.366-3C> Asingle nucleotide variantPathogenicrs587777058GRCh37Chr 21, 43905917: 43905917
64RSPH1NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs)deletionPathogenicrs587777059GRCh37Chr 21, 43905870: 43905873
65RSPH1NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10)single nucleotide variantPathogenicrs151107532GRCh37Chr 21, 43906573: 43906573
66RSPH9NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del)deletionPathogenicrs397518457GRCh37Chr 6, 43638659: 43638661
67SPAG1NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter)single nucleotide variantPathogenicrs201740530GRCh37Chr 8, 101245664: 101245664
68C21orf59NM_021254.2(C21orf59): c.292C> T (p.Arg98Ter)single nucleotide variantPathogenicrs143740376GRCh37Chr 21, 33982163: 33982163
69C21orf59NM_021254.2(C21orf59): c.792_795delTTTA (p.Tyr264Terfs)deletionPathogenicrs398122401GRCh37Chr 21, 33974251: 33974254

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
1axonemal dynein complexGO:000585810.6DNAH5, DNAI2
2motile ciliumGO:003151410.6CCDC103, RSPH1, RSPH4A, RSPH9
3cytoskeletonGO:000585610.2ARMC4, CCDC39, DNAI1, RSPH4A, RSPH9
4outer dynein armGO:003615710.1CCDC114, DNAH5, DNAI1, DNAI2
5ciliumGO:000592910.1CCDC114, CCDC151, CCDC40, DNAI1, HYDIN, LRRC6
6axonemeGO:000593010.0ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cilium-dependent cell motilityGO:006028510.9CCDC39, DNAAF2
2left/right axis specificationGO:007098610.8ARMC4, DNAH5
3axoneme assemblyGO:003508210.7HYDIN, RSPH1, RSPH4A, RSPH9
4determination of pancreatic left/right asymmetryGO:003546910.7CCDC39, CCDC40, DNAAF1
5ventricular system developmentGO:002159110.7ARMC4, HYDIN
6determination of liver left/right asymmetryGO:007191010.6CCDC39, CCDC40, DNAAF1
7heart loopingGO:000194710.6CCDC103, CCDC39, CCDC40, DNAAF1
8regulation of cilium beat frequencyGO:000335610.6ARMC4, CCDC39, CCDC40, DNAAF1
9determination of digestive tract left/right asymmetryGO:007190710.5CCDC103, CCDC39, CCDC40, DNAAF1
10lung developmentGO:003032410.5CCDC39, CCDC40, DNAAF1
11epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.5CCDC103, CCDC39, CCDC40, DNAAF1, LRRC6
12epithelial cilium movementGO:000335110.4CCDC40, DNAI1
13axonemal dynein complex assemblyGO:007028610.3CCDC103, CCDC39, CCDC40, DNAAF1, DNAAF2, DNAAF3
14inner dynein arm assemblyGO:003615910.2CCDC103, CCDC39, CCDC40, DNAAF1, LRRC6, ZMYND10
15determination of left/right symmetryGO:000736810.1ARMC4, CCDC151, DNAH5, DNAI1, DNAI2
16sperm motilityGO:003031710.1CCDC39, CCDC40, DNAH5, DNAI1, LRRC6
17motile cilium assemblyGO:004445810.0CCDC39, CCDC40, DNAAF1, DNAAF3, LRRC6, RSPH9
18cilium movementGO:00033419.7ARMC4, CCDC103, CCDC114, CCDC151, CCDC39, CCDC40
19outer dynein arm assemblyGO:00361589.5ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5

Sources for Primary Ciliary Dyskinesia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet