MCID: KRT010
MIFTS: 48

Kartagener Syndrome malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Kartagener Syndrome

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Aliases & Descriptions for Kartagener Syndrome:

Name: Kartagener Syndrome 33 11 46 23 13 48 37 66
Kartagener's Syndrome 11 25
Siewert Syndrome 46 23
 
Dextrocardia, Bronchiectasis, and Sinusitis 23
Dextrocardia Bronchiectasis and Sinusitis 46

Classifications:



External Ids:

Disease Ontology11 DOID:0050144
MeSH37 D007619
SNOMED-CT60 42402006, 86204009
NCIt43 C84797

Summaries for Kartagener Syndrome

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NIH Rare Diseases:46 Kartagener syndrome is a type of primary ciliary dyskinesia that is also characterized by situs inversus totalis (mirror-image reversal of internal organs). the signs and symptoms vary but may include neonatal respiratory distress; frequent lung, sinus and middle ear infections beginning in early childhood; and infertility. it can be cause by changes (mutations) in many different genes that are inherited in an autosomal recessive manner. although scientists have identified many of the genes associated with kartagener syndrome, the genetic cause of some cases is unknown. there is no cure for kartagener syndrome. treatment varies based on the signs and symptoms present in each person but may include airway clearance therapy and antibiotics. last updated: 2/2/2015

MalaCards based summary: Kartagener Syndrome, also known as kartagener's syndrome, is related to primary ciliary dyskinesia and ciliary dyskinesia, primary, 1, with or without situs inversus, and has symptoms including anosmia, anosmia and headache. An important gene associated with Kartagener Syndrome is DNAI1 (Dynein Axonemal Intermediate Chain 1), and among its related pathways is Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include lung, heart and cervix, and related mouse phenotypes are craniofacial and cardiovascular system.

Disease Ontology:11 A primary ciliary dyskinesia that results from dysfunction of the cilia during embryologic development and is characterized by the triad of sinusitis, bronchiectasis and situs inversus with dextrocardia.

Wikipedia:69 Primary ciliary dyskinesia (PCD), also immotile ciliary syndrome or Kartagener syndrome, is a rare,... more...

Related Diseases for Kartagener Syndrome

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Diseases related to Kartagener Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 59)
idRelated DiseaseScoreTop Affiliating Genes
1primary ciliary dyskinesia11.5
2ciliary dyskinesia, primary, 1, with or without situs inversus11.3
3bronchiectasis11.2
4situs inversus10.0
5neonatal candidiasis9.9DNAH11, DNAH5, DNAI1, NODAL
6rheumatoid arthritis9.9
7arthritis9.9
8focal segmental glomerulosclerosis9.9
9glomerulonephritis9.9
10glomerulosclerosis9.9
11ciliary dyskinesia, primary, 219.8
12ciliary dyskinesia, primary, 229.8
13ciliary dyskinesia, primary, 149.8
14ciliary dyskinesia, primary, 129.8
15ciliary dyskinesia, primary, 119.8
16ciliary dyskinesia, primary, 189.8
17ciliary dyskinesia, primary, 69.8
18ciliary dyskinesia, primary, 289.8
19ciliary dyskinesia, primary, 199.8
20ciliary dyskinesia, primary, 239.8
21ciliary dyskinesia, primary, 279.8
22ciliary dyskinesia, primary, 109.8
23ciliary dyskinesia, primary, 169.8
24ciliary dyskinesia, primary, 259.8
25ciliary dyskinesia, primary, 59.8
26ciliary dyskinesia, primary, 139.8
27ciliary dyskinesia, primary, 179.8
28ciliary dyskinesia, primary, 159.8
29ciliary dyskinesia, primary, 309.8
30ciliary dyskinesia, primary, 209.8
31ciliary dyskinesia, primary, 29.8
32ciliary dyskinesia, primary, 269.8
33ciliary dyskinesia, primary, 3, with or without situs inversus9.8
34ciliary dyskinesia, primary, 7, with or without situs inversus9.8
35ciliary dyskinesia, primary, 9, with or without situs inversus9.8
36dextrocardia with situs inversus9.8
37myocardial infarction9.7
38cystic fibrosis9.7
39aspergillosis9.7
40sinusitis9.7
41scoliosis9.7
42lung abscess9.7
43allergic bronchopulmonary aspergillosis9.7
44biliary atresia9.7
45lateral sclerosis9.7
46bronchiolitis9.7
47adenocarcinoma9.7
48cerebritis9.7
49adenosquamous carcinoma9.7
50lung disease9.7

Graphical network of the top 20 diseases related to Kartagener Syndrome:



Diseases related to kartagener syndrome

Symptoms for Kartagener Syndrome

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UMLS symptoms related to Kartagener Syndrome:


anosmia, headache

Drugs & Therapeutics for Kartagener Syndrome

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Drugs for Kartagener Syndrome (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 26)
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
12Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
13Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
14International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
15Early Detection and Characterization of Primary Ciliary DyskinesiaRecruitingNCT01070914
16NIOX VERO Nasal Application in Primary Ciliary DyskinesiaRecruitingNCT02622061
17Natural History of BronchiectasisRecruitingNCT00943514
18Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
19Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
20Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167
21Screening for Primary Ciliary Dyskinesia Using Nasal Nitric OxideNot yet recruitingNCT00739817
22Registry Study on Primary Ciliary Dyskinesia in Chinese ChildrenNot yet recruitingNCT02704455
23Chest Physiotherapy and Lung Function in Primary Ciliary DyskinesiaNot yet recruitingNCT01929356
24In Vivo Measurements of Nasal Ciliary Beat Frequency by Using InterferometryNot yet recruitingNCT02699177
25Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)Not yet recruitingNCT00686309
26Exhaled Nitric Oxide Levels in Infants and Young Children Infected With RSV or Other Viral InfectionsWithdrawnNCT01098227

Search NIH Clinical Center for Kartagener Syndrome


Cochrane evidence based reviews: kartagener syndrome

Genetic Tests for Kartagener Syndrome

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Genetic tests related to Kartagener Syndrome:

id Genetic test Affiliating Genes
1 Kartagener Syndrome25 23

Anatomical Context for Kartagener Syndrome

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MalaCards organs/tissues related to Kartagener Syndrome:

34
Lung, Heart, Cervix

Animal Models for Kartagener Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kartagener Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053829.4CCDC39, DNAH11, DNAH5, DNAI1, DRC1, NODAL
2MP:00053858.4ARMC4, CCDC39, DNAAF3, DNAH11, DNAH5, DNAI1
3MP:00053888.4ARMC4, CCDC39, CCDC40, DNAAF3, DNAH1, DNAH11
4MP:00053788.3ARMC4, CCDC39, CCDC40, DNAAF3, DNAH11, DNAH5

Publications for Kartagener Syndrome

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Articles related to Kartagener Syndrome:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
A case of Kartagener syndrome with rhinolalia clausa. (27375831)
2016
2
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. (26976528)
2016
3
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. (26960394)
2016
4
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. (25576715)
2015
5
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. (26284775)
2015
6
Kartagener syndrome. (25633235)
2015
7
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. (26250371)
2015
8
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. (26227396)
2015
9
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. (25956262)
2015
10
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
11
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. (24718008)
2014
12
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. (25178347)
2014
13
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. (25309609)
2014
14
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (24533546)
2014
15
Kartagener syndrome: a not so rare phenomenon. (25672196)
2014
16
Re: Kartagener syndrome with focal segmental glomerulosclerosis. (25001147)
2014
17
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (23563507)
2013
18
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. (25207108)
2013
19
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. (23288129)
2012
20
Kartagener syndrome. (21372103)
2012
21
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. (22595222)
2012
22
Kartagener syndrome. (21403791)
2011
23
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. (21718985)
2011
24
Kartagener syndrome. (20562592)
2011
25
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. (20796272)
2010
26
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. (20868986)
2010
27
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. (20550487)
2010
28
Kartagener syndrome in a Nigerian African--a case report and literature review. (20120152)
2009
29
Kartagener syndrome: a rare genetic disorder. (19529061)
2009
30
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. (18270537)
2008
31
Evaluation of residual functional lung volume on Tc-99m DTPA aerosol ventilation and Tc-99m MAA perfusion scintigraphy in primary ciliary dyskinesia (Kartagener syndrome). (19033804)
2008
32
Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. (18026660)
2007
33
Lung abscess in a patient with Kartagener syndrome. (17288100)
2007
34
Renal amyloidosis in a patient with Kartagener syndrome. (17365923)
2007
35
Localization of candidate regions for a novel gene for Kartagener syndrome. (16639409)
2006
36
Kartagener syndrome. (16940490)
2006
37
Abnormal mucociliary transport study in a patient with Kartagener syndrome. (16550029)
2006
38
Anesthesia with CobraPLA for a patient with Kartagener syndrome. (17072712)
2006
39
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. (16397065)
2006
40
Kartagener syndrome: an unusual cause of respiratory distress in the newborn. (17111736)
2006
41
Rheumatoid arthritis and Kartagener syndrome: a rare combination. (16935545)
2006
42
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. (12627427)
2003
43
The Kartagener syndrome--an electron microscopic studies of biopsied mucosa. (9646677)
1997
44
Characterization of a chemotactic defect in patients with Kartagener syndrome. (2138462)
1990
45
Cell motility and microtubules in cultured fibroblasts from patients with Kartagener syndrome. (6224564)
1983
46
Inheritance of Kartagener syndrome. (6972169)
1981
47
The Kartagener syndrome. (1083082)
1975
48
Kartagener syndrome. Case report in an elderly man. (4544537)
1974
49
Cystic fibrosis in a patient with Kartagener syndrome. (4545192)
1974
50
The Kartagener syndrome. (14795162)
1950

Variations for Kartagener Syndrome

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Clinvar genetic disease variations for Kartagener Syndrome:

5 (show all 61)
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
10DNAAF2NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs)duplicationPathogenicrs397515341GRCh38Chr 14, 49633936: 49633951
11DNAH5NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter)single nucleotide variantPathogenicrs771663107GRCh37Chr 5, 13865784: 13865784
12DNAAF2NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs)deletionPathogenicrs797045146GRCh38Chr 14, 49635119: 49635119
13RSPH4ANM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs)duplicationPathogenicrs797045147GRCh37Chr 6, 116937952: 116937952
14LRRC6NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs)deletionPathogenicrs760123202GRCh37Chr 8, 133645009: 133645009
15ARMC4NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter)single nucleotide variantPathogenicrs145742175GRCh38Chr 10, 27944296: 27944296
16RSPH1NM_080860.3(RSPH1): c.366G> A (p.Arg122=)single nucleotide variantPathogenicrs797045148GRCh37Chr 21, 43905914: 43905914
17RSPH1NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22)single nucleotide variantPathogenicrs200382776GRCh37Chr 21, 43897396: 43897396
18SPAG1NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs)deletionPathogenicrs797045149GRCh37Chr 8, 101203687: 101203691
19C21orf59NM_021254.2(C21orf59): c.735C> G (p.Tyr245Ter)single nucleotide variantPathogenicrs202094637GRCh38Chr 21, 32602299: 32602299
20CCDC65NP_149115.2: p.Ile293ProfsTer2deletionPathogenic
21CCNONM_021147.4(CCNO): c.716A> G (p.His239Arg)single nucleotide variantPathogenicrs797045150GRCh37Chr 5, 54527540: 54527540
22DNAH1NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln)single nucleotide variantPathogenicrs544674332GRCh37Chr 3, 52387629: 52387629
23MCIDASNM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter)single nucleotide variantPathogenicrs777031813GRCh37Chr 5, 54518169: 54518169
24MCIDASNM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp)single nucleotide variantPathogenicrs797045151GRCh37Chr 5, 54516255: 54516255
25MCIDASNM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His)single nucleotide variantPathogenicrs797045152GRCh37Chr 5, 54516210: 54516210
26RSPH3NM_031924.4(RSPH3): c.631-2A> Gsingle nucleotide variantPathogenicrs142800871GRCh37Chr 6, 159407455: 159407455
27DNAAF1NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203783
28DNAAF1NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg)single nucleotide variantPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
29DNAL1NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser)single nucleotide variantPathogenicrs387907021GRCh37Chr 14, 74156135: 74156135
30DNAAF3NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)single nucleotide variantPathogenicrs387907151GRCh37Chr 19, 55677272: 55677272
31DNAAF3NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)single nucleotide variantPathogenicrs387907152GRCh37Chr 19, 55676795: 55676795
32DNAAF3NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs)duplicationPathogenicrs397515395GRCh37Chr 19, 55673053: 55673053
33CCDC103NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs)duplicationPathogenicrs587776910GRCh37Chr 17, 42979839: 42979839
34CCDC103NM_213607.2(CCDC103): c.461A> C (p.His154Pro)single nucleotide variantPathogenicrs145457535GRCh37Chr 17, 42979917: 42979917
35CCDC114NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr)single nucleotide variantPathogenicrs147718607GRCh37Chr 19, 48807210: 48807210
36HYDINNM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu)single nucleotide variantPathogenicrs397515413GRCh37Chr 16, 71022036: 71022036
37HYDINNM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter)single nucleotide variantPathogenicrs397515414GRCh37Chr 16, 71171175: 71171175
38DNAI2NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54)single nucleotide variantPathogenicrs397515358GRCh37Chr 17, 72283113: 72283113
39DNAAF2NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter)single nucleotide variantPathogenicrs137853191GRCh37Chr 14, 50101845: 50101845
40DRC1NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter)single nucleotide variantPathogenicrs587776997GRCh37Chr 2, 26677651: 26677651
41DRC1NM_145038.4(DRC1): c.352C> T (p.Gln118Ter)single nucleotide variantPathogenicrs142371860GRCh37Chr 2, 26644264: 26644264
42DNAI1NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12)duplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
43DNAI1NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs)insertionPathogenicrs606231164GRCh38Chr 9, 34489343: 34489344
44DNAI1NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser)single nucleotide variantPathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
45DNAI1NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del)deletionPathogenicrs606231165GRCh38Chr 9, 34514482: 34514493
46DNAI1NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp)single nucleotide variantPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
47DNAI1NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del)single nucleotide variantPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466
48DNAI2NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del)single nucleotide variantPathogenicrs397515565GRCh37Chr 17, 72306303: 72306303
49ZMYND10NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly)single nucleotide variantPathogenicrs138815960GRCh37Chr 3, 50382964: 50382964
50ZMYND10NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro)single nucleotide variantPathogenicrs200913791GRCh37Chr 3, 50379904: 50379904
51ARMC4NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp)single nucleotide variantPathogenicrs587777047GRCh37Chr 10, 28151382: 28151382
52RSPH1NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs138320978GRCh37Chr 21, 43913159: 43913159
53RSPH1NM_080860.3(RSPH1): c.366-3C> Asingle nucleotide variantPathogenicrs587777058GRCh37Chr 21, 43905917: 43905917
54RSPH1NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs)deletionPathogenicrs587777059GRCh37Chr 21, 43905870: 43905873
55RSPH1NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10)single nucleotide variantPathogenicrs151107532GRCh37Chr 21, 43906573: 43906573
56RSPH9NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del)deletionPathogenicrs397515340GRCh37Chr 6, 43638659: 43638661
57SPAG1NC_000008.10: g.101163845_101175817deldeletionPathogenic
58SPAG1NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter)single nucleotide variantPathogenicrs201740530GRCh37Chr 8, 101245664: 101245664
59C21orf59NM_021254.2(C21orf59): c.292C> T (p.Arg98Ter)single nucleotide variantPathogenicrs143740376GRCh37Chr 21, 33982163: 33982163
60C21orf59NM_021254.2(C21orf59): c.792_795delTTTA (p.Tyr264Terfs)deletionPathogenicrs398122401GRCh37Chr 21, 33974251: 33974254
61RSPH4ANM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8)deletionPathogenicrs869320683GRCh38Chr 6, 116623005: 116623008

Copy number variations for Kartagener Syndrome from CNVD:

6 (show all 11)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
13193133210000051400000Copy numberACVR2BKartagener syndrome
211916718116100000DeletionKartagener syndrome
31400872191600000197100000Copy numberDNAH7Kartagener syndrome
41434712237000000242951149MicrodeletionKartagener syndrome
514500593280000036300000Copy numberDNAI1Kartagener syndrome
61479267720000019500000Copy numberDNAH11Kartagener syndrome
71934312129600000132200000Copy numberCFC-1Kartagener syndrome
82039846104800000135200000Copy numberCX43Kartagener syndrome
92170705129300000Copy numberDNAH5Kartagener syndrome
102508061222100000228800000Copy numberLEFTYAKartagener syndrome
112666430133500000137800000Copy numberZIC3Kartagener syndrome

Expression for genes affiliated with Kartagener Syndrome

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Search GEO for disease gene expression data for Kartagener Syndrome.

Pathways for genes affiliated with Kartagener Syndrome

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GO Terms for genes affiliated with Kartagener Syndrome

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Cellular components related to Kartagener Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1dynein complexGO:003028610.4DNAH1, DNAH11
2motile ciliumGO:003151410.3CCDC103, RSPH1, RSPH4A
3axonemal dynein complexGO:000585810.2DNAH1, DNAH5, DNAI2
4ciliumGO:000592910.2CCDC40, DNAI1, LRRC6
5outer dynein armGO:003615710.0DNAH5, DNAI1, DNAI2, NME8
6sperm flagellumGO:00361269.8DNAH1, DNAI2, RSPH1
7cytoskeletonGO:00058569.8ARMC4, CCDC39, DNAI1, DRC1, RSPH4A
8microtubuleGO:00058749.7DNAH1, DNAH11, DNAH5, DNAI1, DNAI2
9axonemeGO:00059308.9ARMC4, CCDC103, CCDC39, CCDC40, DNAAF1, DNAH5
10cytoplasmGO:00057376.8ARMC4, CCDC103, CCDC39, CCDC40, CCNO, DNAAF1

Biological processes related to Kartagener Syndrome according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1axoneme assemblyGO:003508210.6RSPH1, RSPH4A
2determination of pancreatic left/right asymmetryGO:003546910.2CCDC39, CCDC40, DNAAF1
3determination of liver left/right asymmetryGO:007191010.2CCDC39, CCDC40, DNAAF1
4cilium-dependent cell motilityGO:006028510.1CCDC39, DRC1
5determination of digestive tract left/right asymmetryGO:007190710.1CCDC103, CCDC39, CCDC40, DNAAF1
6epithelial cilium movementGO:00033519.9CCDC40, DNAH1, DNAI1
7lung developmentGO:00303249.9CCDC39, CCDC40, DNAAF1, NODAL
8epithelial cilium movement involved in determination of left/right asymmetryGO:00602879.9CCDC103, CCDC39, CCDC40, DNAAF1, LRRC6
9cilium assemblyGO:00423849.9CCNO, DNAH5, DNAI2, NME8
10regulation of cilium beat frequencyGO:00033569.8ARMC4, CCDC39, CCDC40, DNAAF1, DNAH11
11heart loopingGO:00019479.8CCDC103, CCDC39, CCDC40, DNAAF1, NODAL
12motile cilium assemblyGO:00444589.6CCDC39, CCDC40, DNAAF1, DNAAF3, LRRC6, ZMYND10
13axonemal dynein complex assemblyGO:00702869.4CCDC103, CCDC39, CCDC40, DNAAF1, DNAAF3, DRC1
14inner dynein arm assemblyGO:00361599.4CCDC103, CCDC39, CCDC40, DNAAF1, DNAH1, LRRC6
15outer dynein arm assemblyGO:00361589.1ARMC4, CCDC103, DNAAF1, DNAH5, DNAI1, DNAI2
16heart developmentGO:00075079.0ARMC4, CCDC39, DNAH11, DNAH5, DNAI1, DRC1
17determination of left/right symmetryGO:00073688.6ARMC4, CCDC39, DNAH11, DNAH5, DNAI1, DNAI2
18sperm motilityGO:00303178.5CCDC39, CCDC40, DNAH1, DNAH11, DNAH5, DNAI1
19cilium movementGO:00033418.2ARMC4, CCDC103, CCDC39, CCDC40, DNAAF1, DNAH11

Molecular functions related to Kartagener Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:00037779.6DNAH1, DNAH11, DNAH5, DNAI2
2ATPase activityGO:00168879.6DNAH1, DNAH11, DNAH5

Sources for Kartagener Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet