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 34 11 47 24 49 38 13 67
Kartagener's Syndrome 11 26
Siewert Syndrome 47 24
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 47
Primary Ciliary Dyskinesia and Situs Inversus 47
 
Dextrocardia, Bronchiectasis, and Sinusitis 24
Primary Ciliary Dyskinesia, Kartagener Type 47
Dextrocardia Bronchiectasis and Sinusitis 47
Immotile Cilia Syndrome, Kartagener Type 47

Classifications:



External Ids:

Disease Ontology11 DOID:0050144
MeSH38 D007619
SNOMED-CT61 42402006, 86204009
NCIt44 C84797

Summaries for Kartagener Syndrome

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

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). Affiliated tissues include lung, heart and cervix, and related mouse phenotypes are cardiovascular system and respiratory system.

Wikipedia:70 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 56)
idRelated DiseaseScoreTop Affiliating Genes
1primary ciliary dyskinesia11.6
2ciliary dyskinesia, primary, 1, with or without situs inversus11.5
3bronchiectasis11.1
4ciliary dyskinesia, primary, 2110.7
5ciliary dyskinesia, primary, 2210.7
6ciliary dyskinesia, primary, 1410.7
7ciliary dyskinesia, primary, 1210.7
8ciliary dyskinesia, primary, 1110.7
9ciliary dyskinesia, primary, 1810.7
10ciliary dyskinesia, primary, 610.7
11ciliary dyskinesia, primary, 2810.7
12ciliary dyskinesia, primary, 1910.7
13ciliary dyskinesia, primary, 2310.7
14ciliary dyskinesia, primary, 2710.7
15ciliary dyskinesia, primary, 1010.7
16ciliary dyskinesia, primary, 1610.7
17ciliary dyskinesia, primary, 2510.7
18ciliary dyskinesia, primary, 510.7
19ciliary dyskinesia, primary, 1310.7
20ciliary dyskinesia, primary, 1710.7
21ciliary dyskinesia, primary, 1510.7
22ciliary dyskinesia, primary, 3010.7
23ciliary dyskinesia, primary, 2010.7
24ciliary dyskinesia, primary, 210.7
25ciliary dyskinesia, primary, 2610.7
26ciliary dyskinesia, primary, 3, with or without situs inversus10.7
27ciliary dyskinesia, primary, 7, with or without situs inversus10.7
28ciliary dyskinesia, primary, 9, with or without situs inversus10.7
29primary ciliary dyskinesia 3510.7
30neonatal candidiasis10.5DNAH5, DNAI1
31subglottis verrucous carcinoma9.9DNAAF1, DNAH5, DNAI1, DNAI2, RSPH9
32rheumatoid arthritis9.8
33arthritis9.8
34focal segmental glomerulosclerosis9.8
35glomerulonephritis9.8
36glomerulosclerosis9.8
37myocardial infarction9.6
38cystic fibrosis9.6
39aspergillosis9.6
40sinusitis9.6
41scoliosis9.6
42lung abscess9.6
43allergic bronchopulmonary aspergillosis9.6
44biliary atresia9.6
45lateral sclerosis9.6
46bronchiolitis9.6
47adenocarcinoma9.6
48cerebritis9.6
49adenosquamous carcinoma9.6
50lung disease9.6

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):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AzithromycinapprovedPhase 333383905-01-555185, 53477736, 447043
Synonyms:
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-11-[(2S,3R,4S,6R)-4-(dimethylamino)-3-hydroxy-6-methyloxan-2-yl]oxy-2-ethyl-3,4,10-trihydroxy-13-[(2R,4R,5S,6S)-5-hydroxy-4-methoxy-4,6-dimethyloxan-2-yl]oxy-3,5,6,8,10,12,14-heptamethyl-1-oxa-6-azacyclopentadecan-15-one
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-13-((2,6-Dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-1-oxa-6-azacyclopentadecan-15-one
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-b-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-a-L-ribo-hexopyranoside
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-15-oxo-11-{[3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl]oxy}-1-oxa-6-azacyclopentadecan-13-yl 2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranoside
(2R,3S,4R,5R,8R,10R,11R,12S,13S,14R)13-((2,6-Dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-1-oxa-6-azacyclopentadecan-15-one
1-Oxa-6-azacyclopentadecan-15-one, 13-((2,6-dideoxy-3-C-methyl-3-O-methyl-alpha-L-ribo-hexopyranosyl)oxy)-2-ethyl-3,4,10-trihydroxy-3,5,6,8,10,12,14-heptamethyl-11-((3,4,6-trideoxy-3-(dimethylamino)-beta-D-xylo-hexopyranosyl)oxy)-,(2R-(2R*,3S*
121470-24-4
75199_FLUKA
83905-01-5
9-Deoxo-9a-aza-9a-methyl-9a-homoerythromycin A
AC-16014
AC1L9KEG
Aritromicina
Azasite
Azenil
Azifast
Azigram
Azimakrol
Azithramycine
Azithromycin
Azithromycin & Tumor Necrosis Factor
Azithromycin (AIDS Initiative)
Azithromycin (anhydrous)
Azithromycin Dihydrate
Azithromycin Monohydrate
Azithromycin Sterile
Azithromycin dihydrate
Azithromycin plus Tumor Necrosis Factor
Azithromycine
Azithromycine [French]
Azithromycinum
Azithromycinum [Latin]
Azitrocin
Azitromax
Azitromicina
Azitromicina [Spanish]
Azitromin
Azythromycin
BIDD:GT0792
BRN 5387583
BSPBio_002285
Bio-0676
C38H72N2O12
CCRIS 1961
CHEBI:2955
CHEMBL529
CID447043
CP-62993
CP62,993
CPD000471864
DCH3
DRG-0104
 
DivK1c_000233
HMS1922G12
HMS2094M11
HMS500L15
HSDB 7205
Hemomycin
IDI1_000233
KBio1_000233
KBio2_000787
KBio2_003355
KBio2_005923
KBio3_001505
KBioGR_000731
KBioSS_000787
LS-1834
MLS001055353
MLS001066331
MLS001201763
MLS001304005
MLS001332499
MLS001332500
Misultina
MolPort-002-507-426
N,N-Dimethyl-4-amino-benzaldehyde
NCGC00090753-01
NCGC00090753-02
NINDS_000233
NSC643732
SAM002589961
SMR000471864
SPBio_001544
SPECTRUM1503679
Spectrum2_001582
Spectrum3_000653
Spectrum4_000186
Spectrum5_001867
Spectrum_000307
Sumamed
Tromix
UNII-JTE4MNN1MD
XZ-450
Z-Pak
ZIT
Zentavion
Zithromac
Zithromax
Zithromax IV
Zithromycin
Zitromax
Zitromax Avium 600
Zmas
Zmax
azithromycin
2Pharmaceutical SolutionsPhase 27793
3
Nitric Oxideapproved59910102-43-9145068
Synonyms:
(.)NO
(NO)(.)
10102-43-9
14332-28-6
295566_ALDRICH
51005-20-0
51005-21-1
53851-19-7
90452-29-2
AC1L1ADQ
AC1L3QHF
AC1Q6QZ0
AR-1K7463
Bioxyde d'azote
Bioxyde d'azote [French]
C00533
CCRIS 4319
CHEMBL1200689
CHEMBL1234765
CID145068
CID945
D00074
D009569
DB00435
EDRF
EINECS 233-271-0
Endogenous Nitrate Vasodilator
Endothelium-Derived Nitric Oxide
HNO
HSDB 1246
INOmax
INOmax (TN)
LS-192158
LS-7547
MolPort-003-929-452
Mononitrogen monoxide
Monoxide, Mononitrogen
Monoxide, Nitrogen
Monoxido de nitrogeno
Monoxyde d'azote
NITRIC-OXIDE
NO
NO(.)
Nitrate Vasodilator, Endogenous
Nitric Oxide, Endothelium Derived
 
Nitric Oxide, Endothelium-Derived
Nitric oxide
Nitric oxide (JAN)
Nitric oxide 10% by volume or more
Nitric oxide trimer
Nitric oxide, compressed [UN1660] [Poison gas]
Nitric oxide, compressed [UN1660] [Poison gas]
Nitrogen monoxide
Nitrogen oxide
Nitrogen oxide (NO)
Nitrogen protoxide
Nitrosyl
Nitrosyl hydride
Nitrosyl hydride ((NO)H)
Nitrosyl radical
Nitroxide radical
Nitroxyl
OHM 11771
Oxide, Nitric
Oxido de nitrogeno(ii)
Oxido nitrico
Oxyde azotique
Oxyde nitrique
Oxyde nitrique [French]
RCRA waste no. P076
Stickmonoxyd
Stickmonoxyd [German]
Stickstoff(II)-oxid
Stickstoff(ii)-oxid
Stickstoffmonoxid
UN 1660
UN1660
UNII-31C4KY9ESH
Vasodilator, Endogenous Nitrate
[NO]
endothelium-derived relaxing factor
monoxido de nitrogeno
monoxyde d'azote
nitric oxide
nitrogen monooxide
nitrogen monoxide
nitrosyl
oxido de nitrogeno(II)
oxido nitrico
oxidonitrogen(.)
oxoazanyl
oxyde azotique
4
Mentholapproved23532216-51-516666
Synonyms:
(−
()-Menthol
(+)-Neo-menthol
(+)-p-Menthan-3-ol
(+-)-(1R*,3R*,4S*)-Menthol
(+-)-Menthol
(+/-)-Menthol
(+/-)-p-Menthan-3-ol
(-)-(1R,3R,4S)-Menthol
(-)-Menthyl alcohol
(-)-menthol
(-)-p-Menthan-3-ol
(-)-trans-p-Menthan-cis-ol
(1R)-(-)-Menthol
(1R,2S,5R)-(-)-menthol
(1R,2S,5R)-Menthol
(1R,3R,4S)-(-)-MENTHOL
(1R,3R,4S)-(-)-Menthol
(1R-(1-alpha,2-beta,5-alpha))-5-Methyl-2-(1-methylethyl)cyclohexanol
(1S, 2S, 5R)-(+)-Neomenthol
(1S,2R,5R)-(+)-Isomenthol
(1S,2R,5S)-(+)-Menthol
(1S,2R,5S)-Menthol
(1alpha,2beta,5alpha)-5-Methyl-2(1-methylethyl)cyclohexanol
(1r,2s,5r)-(-)-menthol
(L)-MENTHOL
(R)-(-)-Menthol
(r)-(-)-menthol
)-Menthol
--MENTHOL
1-Menthol
1490-04-6
15356-60-2
15356-70-4
15785_RIEDEL
15785_SIAL
19863P
2-Isopropyl-5-methylcyclohexanol
20747-49-3
2216-51-5
3-p-Menthol
4-Isopropyl-1-methylcyclohexan-3-ol
491-02-1
5-Methyl-2-(1-methylethyl)-cyclohexanol
5-Methyl-2-(1-methylethyl)cyclohexanol
5-methyl-2-(propan-2-yl)cyclohexanol
5-methyl-2-propan-2-ylcyclohexan-1-ol
551376_ALDRICH
551376_FLUKA
588733_ALDRICH
613290_ALDRICH
613290_FLUKA
63660_FLUKA
63670_ALDRICH
63670_FLUKA
63975-60-0
6C6A4A8C-A054-468C-A1F0-F29E39838CF2
89-78-1
98167-53-4
AC1L1B2E
AC1L28FR
AC1Q1NQ2
AC1Q2QQM
AI3-08161
AI3-52408
AKOS000119740
AR-1J3337
BB_NC-0057
BRN 1902288
BRN 3194263
BSPBio_003062
C00400
C10H20O
CCRIS 3728
CCRIS 375
CCRIS 4666
CCRIS 9231
CHEBI:15409
CHEBI:545611
CHEMBL256087
CHEMBL470670
CID1254
CID16666
Caswell No. 540
D-(-)-Menthol
D-p-Menthan-3-ol
D00064
D008610
D04849
D04918
DB00825
DivK1c_000820
EINECS 201-939-0
EINECS 207-724-8
EINECS 216-074-4
EINECS 218-690-9
EINECS 239-387-8
EINECS 239-388-3
EPA Pesticide Chemical Code 051601
FEMA No. 2665
Fisherman's friend lozenges
Fisherman's friend lozenges (TN)
HMS1922G13
HMS2092L14
HMS502I22
 
HSDB 5662
HSDB 593
Headache crystals
Hexahydrothymol
I06-1216
I14-7371
IDI1_000820
KBio1_000820
KBio2_000785
KBio2_003353
KBio2_005921
KBio3_002562
KBioSS_000785
L-(-)-Menthol
L-(-)-menthol
L-Menthol
L-menthol
LMPR0102090001
LS-2353
LS-57201
LS-886
LS-89531
LS-89533
Levomenthol
Levomenthol [INN:BAN]
Levomentholum
Levomentholum [INN-Latin]
Levomentol
M0321
M0545
M2772_SIAL
MENTHOL
MLS002207256
Menthacamphor
Menthol
Menthol (USP)
Menthol (VAN)
Menthol natural
Menthol natural, brazilian
Menthol racemic
Menthol racemique
Menthol racemique [French]
Menthol solution
Menthol, (1alpha,2beta,5alpha)-Isomer
Menthomenthol
Menthyl alcohol
MolPort-000-849-729
MolPort-001-793-392
NCGC00159382-02
NCGC00159382-03
NCGC00164247-01
NCGC00164247-02
NCI-C50000
NINDS_000820
NOOLISFMXDJSKH-KXUCPTDWBX
NSC 2603
NSC 62788
NSC2603
NSC62788
Neoisomenthol
Peppermint camphor
RACEMIC MENTHOL U.S.P.
Racementhol
Racementhol [INN:BAN]
Racementholum
Racementholum [INN-Latin]
Racementol
Racementol [INN-Spanish]
Racemic menthol
Robitussin Cough Drops
SDCCGMLS-0066659.P001
SMR001306785
SPBio_000869
SPECTRUM1503134
STK802468
Spectrum2_000855
Spectrum3_001561
Spectrum5_001060
Spectrum_000305
Tra-kill tracheal mite killer
U.S.P. Menthol
U.S.p. Menthol
UNII-BZ1R15MTK7
UNII-L7T10EIP3A
UNII-YS08XHA860
W266507_ALDRICH
W266523_ALDRICH
W266590_ALDRICH
WLN: L6TJ AY1&1 BQ D1
WLN: L6TJ AY1&1 DQ D1 -L
ZINC01482164
cis-1 ,3-trans-1,4-(+-)-menthol
cis-1,3-trans-1,4-(+-)-menthol
d,l-Menthol
d-Menthol
d-Neomenthol
dl-3-p-Menthanol
dl-Menthol
dl-Menthol (JP15)
l-(-)-Menthol
l-Menthol
l-Menthol (JP15)
l-Menthol (TN)
l-Menthol (natural)
nchembio862-comp1
p-Menthan-3-ol
rac-Menthol
5Peripheral Nervous System Agents22776
6Vasodilator Agents3438
7Respiratory System Agents4818
8Protective Agents7190
9Neurotransmitter Agents17734
10Anti-Asthmatic Agents3369
11Antioxidants2928
12Autonomic Agents9774
13Endothelium-Dependent Relaxing Factors272
14Bronchodilator Agents2856
15Albuterol408

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
3Screening for Primary Ciliary Dyskinesia Using Nasal Nitric OxideUnknown statusNCT00739817
4Early Detection and Characterization of Primary Ciliary DyskinesiaUnknown statusNCT01070914
5Chest Physiotherapy and Lung Function in Primary Ciliary DyskinesiaUnknown statusNCT01929356
6Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO)Unknown statusNCT00686309
7Diagnosis of Primary Ciliary DyskinesiaCompletedNCT00783887
8Otolith Function in Patients With Primary Ciliary DyskinesiaCompletedNCT01246258
9Genetic Study of Patients With Primary Ciliary DyskinesiaCompletedNCT00005650
10Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary DyskinesiaCompletedNCT01155115
11Dyskinesia, Heterotaxy and Congenital Heart DiseaseCompletedNCT00608556
12Determination of Normal Values of Nasal Nitric Oxide in AdultsCompletedNCT02133547
13Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
14A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced AsthmaCompletedNCT01097954
15Electrical Impedance Tomography of Lung in Child and Young AgeCompletedNCT02290535
16Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
17Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
18International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
19Natural History of BronchiectasisRecruitingNCT00943514
20Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
21Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
22NIOX VERO Nasal Application in Primary Ciliary DyskinesiaActive, not recruitingNCT02622061
23Rare Genetic Disorders of the Breathing AirwaysActive, not recruitingNCT00323167
24Registry Study on Primary Ciliary Dyskinesia in Chinese ChildrenNot yet recruitingNCT02704455
25In Vivo Measurements of Nasal Ciliary Beat Frequency by Using InterferometryNot yet recruitingNCT02699177
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 Syndrome26 24

Anatomical Context for Kartagener Syndrome

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MalaCards organs/tissues related to Kartagener Syndrome:

35
Lung, Heart, Cervix

Animal Models for Kartagener Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Kartagener Syndrome:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538510.2ARMC4, CCDC151, DNAAF2, DNAAF3, DNAH5, DNAI1
2MP:00053889.4ARMC4, CCDC151, DNAAF2, DNAAF3, DNAH5, DNAI1

Publications for Kartagener Syndrome

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Articles related to Kartagener Syndrome:

(show top 50)    (show all 73)
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
A case of Kartagener syndrome. (27728621)
2016
5
A case report of kartagener syndrome. (27728632)
2016
6
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. (25576715)
2015
7
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. (26284775)
2015
8
Kartagener syndrome. (25633235)
2015
9
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. (26250371)
2015
10
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. (26227396)
2015
11
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. (25956262)
2015
12
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
13
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. (24718008)
2014
14
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. (25178347)
2014
15
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. (25309609)
2014
16
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (24533546)
2014
17
Kartagener syndrome: a not so rare phenomenon. (25672196)
2014
18
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (23563507)
2013
19
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. (25207108)
2013
20
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. (23288129)
2012
21
Kartagener syndrome. (21372103)
2012
22
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. (22595222)
2012
23
Kartagener syndrome. (21403791)
2011
24
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. (21718985)
2011
25
Kartagener syndrome. (20562592)
2011
26
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. (20796272)
2010
27
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. (20868986)
2010
28
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. (20550487)
2010
29
Kartagener syndrome in a Nigerian African--a case report and literature review. (20120152)
2009
30
Kartagener syndrome: a rare genetic disorder. (19529061)
2009
31
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. (18270537)
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)SNVPathogenicrs587777501GRCh38Chr 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)SNVPathogenicrs587777779GRCh38Chr 19, 11426182: 11426182
8CCDC151NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter)SNVPathogenicrs587777780GRCh37Chr 19, 11533390: 11533390
9DNAH8NM_001206927.1(DNAH8): c.2419C> T (p.Arg807Ter)SNVPathogenicrs567050969GRCh38Chr 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)SNVPathogenicrs771663107GRCh37Chr 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)SNVPathogenicrs145742175GRCh37Chr 10, 28233225: 28233225
16RSPH1NM_080860.3(RSPH1): c.366G> A (p.Arg122=)SNVPathogenicrs797045148GRCh37Chr 21, 43905914: 43905914
17RSPH1NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22)SNVPathogenicrs200382776GRCh37Chr 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)SNVPathogenicrs202094637GRCh38Chr 21, 32602299: 32602299
20CCDC65NP_149115.2: p.Ile293ProfsTer2deletionPathogenicChr na, -1: -1
21CCNONM_021147.4(CCNO): c.716A> G (p.His239Arg)SNVPathogenicrs797045150GRCh37Chr 5, 54527540: 54527540
22DNAH1NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln)SNVPathogenicrs544674332GRCh37Chr 3, 52387629: 52387629
23MCIDASNM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter)SNVPathogenicrs777031813GRCh37Chr 5, 54518169: 54518169
24MCIDASNM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp)SNVPathogenicrs797045151GRCh37Chr 5, 54516255: 54516255
25MCIDASNM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His)SNVPathogenicrs797045152GRCh37Chr 5, 54516210: 54516210
26RSPH3NM_031924.4(RSPH3): c.631-2A> GSNVPathogenicrs142800871GRCh37Chr 6, 159407455: 159407455
27DNAAF1NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203783
28DNAAF1NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg)SNVPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
29DNAL1NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser)SNVPathogenicrs387907021GRCh37Chr 14, 74156135: 74156135
30DNAAF3NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)SNVPathogenicrs387907151GRCh37Chr 19, 55677272: 55677272
31DNAAF3NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)SNVPathogenicrs387907152GRCh37Chr 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)SNVPathogenicrs145457535GRCh37Chr 17, 42979917: 42979917
35CCDC114NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr)SNVPathogenicrs147718607GRCh37Chr 19, 48807210: 48807210
36HYDINNM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu)SNVPathogenicrs397515413GRCh37Chr 16, 71022036: 71022036
37HYDINNM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter)SNVPathogenicrs397515414GRCh37Chr 16, 71171175: 71171175
38DNAI2NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54)SNVPathogenicrs397515358GRCh37Chr 17, 72283113: 72283113
39DNAAF2NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter)SNVPathogenicrs137853191GRCh37Chr 14, 50101845: 50101845
40DRC1NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter)SNVPathogenicrs587776997GRCh37Chr 2, 26677651: 26677651
41DRC1NM_145038.4(DRC1): c.352C> T (p.Gln118Ter)SNVLikely pathogenic, Pathogenicrs142371860GRCh37Chr 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)SNVPathogenicrs79833450GRCh37Chr 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)SNVPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
47DNAI1NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del)SNVPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466
48DNAI2NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del)SNVPathogenicrs397515565GRCh37Chr 17, 72306303: 72306303
49ZMYND10NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly)SNVPathogenicrs138815960GRCh37Chr 3, 50382964: 50382964
50ZMYND10NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro)SNVPathogenicrs200913791GRCh37Chr 3, 50379904: 50379904
51ARMC4NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp)SNVPathogenicrs587777047GRCh37Chr 10, 28151382: 28151382
52RSPH1NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter)SNVPathogenicrs138320978GRCh37Chr 21, 43913159: 43913159
53RSPH1NM_080860.3(RSPH1): c.366-3C> ASNVPathogenicrs587777058GRCh37Chr 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)SNVPathogenicrs151107532GRCh37Chr 21, 43906573: 43906573
56RSPH9NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del)deletionPathogenicrs397515340GRCh37Chr 6, 43638659: 43638661
57SPAG1NC_000008.11: g.100151617_100163589del11973deletionPathogenicGRCh38Chr 8, 100151617: 100163589
58SPAG1NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter)SNVPathogenicrs201740530GRCh37Chr 8, 101245664: 101245664
59C21orf59NM_021254.2(C21orf59): c.292C> T (p.Arg98Ter)SNVPathogenicrs143740376GRCh37Chr 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)deletionPathogenicrs869320683GRCh37Chr 6, 116944168: 116944171

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
11266643X133500000137800000Copy 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
1axonemal dynein complexGO:000585810.6DNAH5, DNAI2
2outer dynein armGO:003615710.5CCDC114, DNAH5, DNAI1, DNAI2
3motile ciliumGO:003151410.2CCDC103, RSPH4A, RSPH9
4ciliumGO:000592910.1CCDC114, CCDC151, DNAI1, LRRC6
5cytoskeletonGO:00058569.8ARMC4, DNAI1, DRC1, RSPH4A, RSPH9
6axonemeGO:00059309.4ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5
7cytoplasmGO:00057378.7ARMC4, CCDC103, DNAAF1, DNAAF2, DNAAF3, DNAH5

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

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1determination of digestive tract left/right asymmetryGO:007190710.7CCDC103, DNAAF1
2sperm motilityGO:009772210.7DNAH5, DNAI1, LRRC6
3axoneme assemblyGO:003508210.6RSPH4A, RSPH9
4regulation of cilium beat frequencyGO:000335610.5ARMC4, DNAAF1
5epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.5CCDC103, DNAAF1, LRRC6
6ventricular system developmentGO:002159110.4ARMC4, HYDIN
7inner dynein arm assemblyGO:003615910.3CCDC103, DNAAF1, LRRC6, ZMYND10
8bacterial-type flagellum-dependent cell motilityGO:007197310.3DNAAF2, DRC1
9cilium-dependent cell motilityGO:006028510.3DNAAF2, DRC1
10motile cilium assemblyGO:004445810.2DNAAF1, DNAAF3, LRRC6, RSPH9, ZMYND10
11heart developmentGO:000750710.1ARMC4, DNAH5, DNAI1, DRC1
12axonemal dynein complex assemblyGO:00702869.7CCDC103, DNAAF1, DNAAF2, DNAAF3, DRC1, SPAG1
13determination of left/right symmetryGO:00073689.5ARMC4, CCDC151, DNAH5, DNAI1, DNAI2, DRC1
14outer dynein arm assemblyGO:00361589.3ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5
15cilium movementGO:00033419.0ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5

Sources for Kartagener Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet