MCID: KRT010
MIFTS: 45

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 35 11 48 24 50 39 13 68
Kartagener's Syndrome 11 27
Siewert Syndrome 48 24
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 48
Primary Ciliary Dyskinesia and Situs Inversus 48
 
Dextrocardia, Bronchiectasis, and Sinusitis 24
Primary Ciliary Dyskinesia, Kartagener Type 48
Dextrocardia Bronchiectasis and Sinusitis 48
Immotile Cilia Syndrome, Kartagener Type 48

Classifications:



External Ids:

Disease Ontology11 DOID:0050144
MeSH39 D007619
SNOMED-CT62 42402006, 86204009
NCIt45 C84797

Summaries for Kartagener Syndrome

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NIH Rare Diseases:48 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. An important gene associated with Kartagener Syndrome is DNAI1 (Dynein Axonemal Intermediate Chain 1). Affiliated tissues include lung and cervix, and related mouse phenotype respiratory system.

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.

Wikipedia:71 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 dyskinesia11.6
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
30dextrocardia with situs inversus10.7
31lymphoepithelioma-like thymic carcinoma10.2DNAAF1, DNAH5, DNAI1, DNAI2
32gaucher disease, atypical10.1DNAAF1, DNAH5, DNAI1, DNAI2, RSPH4A, RSPH9
33jmp syndrome9.9CCDC114, DNAAF1, DNAH5, DNAI1, DNAI2, RSPH4A
34situs inversus9.9
35rheumatoid arthritis9.8
36arthritis9.8
37focal segmental glomerulosclerosis9.8
38glomerulonephritis9.8
39cleft lip and palate malrotation cardiopathy9.6ARMC4, CCDC103, CCDC151, DNAAF2, DNAAF3, DNAL1
40myocardial infarction9.6
41cystic fibrosis9.6
42aspergillosis9.6
43sinusitis9.6
44scoliosis9.6
45lung abscess9.6
46allergic bronchopulmonary aspergillosis9.6
47biliary atresia9.6
48lateral sclerosis9.6
49bronchiolitis9.6
50adenocarcinoma9.6

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



Diseases related to kartagener syndrome

Symptoms & Phenotypes for Kartagener Syndrome

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MGI Mouse Phenotypes related to Kartagener Syndrome according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.1ARMC4, CCDC151, DNAAF2, DNAAF3, DNAH5, DNAI1

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

Interventional clinical trials:

(show all 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
12NIOX VERO Nasal Application in Primary Ciliary DyskinesiaCompletedNCT02622061
13Determination of Normal Values of Nasal Nitric Oxide in AdultsCompletedNCT02133547
14Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung DiseaseCompletedNCT00368446
15A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced AsthmaCompletedNCT01097954
16Electrical Impedance Tomography of Lung in Child and Young AgeCompletedNCT02290535
17Genetics of Primary Ciliary DyskinesiaRecruitingNCT02389049
18Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung DiseaseRecruitingNCT00807482
19International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD)RecruitingNCT02419365
20Natural History of BronchiectasisRecruitingNCT00943514
21Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung DiseaseActive, not recruitingNCT00722878
22Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and AdolescentsActive, not recruitingNCT00450918
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

About this section

Genetic tests related to Kartagener Syndrome:

id Genetic test Affiliating Genes
1 Kartagener Syndrome27 24

Anatomical Context for Kartagener Syndrome

About this section

MalaCards organs/tissues related to Kartagener Syndrome:

36
Lung, Cervix

Publications for Kartagener Syndrome

About this section

Articles related to Kartagener Syndrome:

(show top 50)    (show all 74)
idTitleAuthorsYear
1
Kartagener Syndrome. (28402566)
2017
2
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. (27746084)
2016
3
A case of Kartagener syndrome. (27728621)
2016
4
A case report of kartagener syndrome. (27728632)
2016
5
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. (27988889)
2016
6
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. (26976528)
2016
7
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. (26960394)
2016
8
A case of Kartagener syndrome with rhinolalia clausa. (27375831)
2016
9
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. (26250371)
2015
10
Kartagener syndrome. (25633235)
2015
11
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. (26227396)
2015
12
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. (26284775)
2015
13
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. (25956262)
2015
14
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. (27366497)
2015
15
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. (25576715)
2015
16
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. (24718008)
2014
17
Re: Kartagener syndrome with focal segmental glomerulosclerosis. (25001147)
2014
18
Kartagener syndrome: a not so rare phenomenon. (25672196)
2014
19
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (24533546)
2014
20
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. (25309609)
2014
21
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
22
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. (25087796)
2014
23
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. (25178347)
2014
24
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. (25755941)
2013
25
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (23563507)
2013
26
Kartagener syndrome with focal segmental glomerulosclerosis. (24241099)
2013
27
An unusual regression of the symptoms of Kartagener syndrome. (22551925)
2013
28
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. (25207108)
2013
29
Kartagener syndrome. (21372103)
2012
30
An unusual case of Kartagener syndrome. (21497979)
2012
31
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. (22595222)
2012
32
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. (22104985)
2012
33
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. (23288129)
2012
34
Bronchiolitis as a feature of kartagener syndrome: a case report. (23169026)
2011
35
Kartagener syndrome. (21403791)
2011
36
Kartagener syndrome. (20562592)
2011
37
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. (21718985)
2011
38
Diagnosis: Kartagener syndrome. (20697168)
2010
39
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. (20550487)
2010
40
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. (20796272)
2010
41
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. (20868986)
2010
42
Kartagener syndrome: a rare genetic disorder. (19529061)
2009
43
Kartagener syndrome in a Nigerian African--a case report and literature review. (20120152)
2009
44
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. (19606528)
2009
45
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
46
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. (18270537)
2008
47
Lung abscess in a patient with Kartagener syndrome. (17288100)
2007
48
Renal amyloidosis in a patient with Kartagener syndrome. (17365923)
2007
49
Lung transplantation in Kartagener syndrome and situs inversus: potential of multidetector row computed tomography and three-dimensional postprocessing. (17723847)
2007
50
Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. (18026660)
2007

Variations for Kartagener Syndrome

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Clinvar genetic disease variations for Kartagener Syndrome:

5 (show all 59)
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
9DNAAF2NM_ 018139.2(DNAAF2): c.1199_ 1214dupACGATACCTGCGTGGC (p.Gly406Argfs)duplicationPathogenicrs397515341GRCh38Chr 14, 49633936: 49633951
10DNAH5NM_ 001369.2(DNAH5): c.4348C> T (p.Gln1450Ter)SNVPathogenicrs771663107GRCh37Chr 5, 13865784: 13865784
11DNAAF2NM_ 018139.2(DNAAF2): c.31delG (p.Glu11Argfs)deletionPathogenicrs797045146GRCh38Chr 14, 49635119: 49635119
12RSPH4ANM_ 001010892.2(RSPH4A): c.166dupC (p.Arg56Profs)duplicationPathogenicrs797045147GRCh37Chr 6, 116937952: 116937952
13LRRC6NM_ 012472.5(LRRC6): c.630delG (p.Trp210Cysfs)deletionPathogenicrs760123202GRCh37Chr 8, 133645009: 133645009
14ARMC4NM_ 018076.4(ARMC4): c.1669G> T (p.Glu557Ter)SNVPathogenicrs145742175GRCh37Chr 10, 28233225: 28233225
15RSPH1NM_ 080860.3(RSPH1): c.366G> A (p.Arg122=)SNVPathogenicrs797045148GRCh37Chr 21, 43905914: 43905914
16RSPH1NM_ 080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22)SNVPathogenicrs200382776GRCh37Chr 21, 43897396: 43897396
17SPAG1NM_ 172218.2(SPAG1): c.902_ 906delAAGTA (p.Lys301Thrfs)deletionPathogenicrs797045149GRCh37Chr 8, 101203687: 101203691
18C21orf59NM_ 021254.3(C21orf59): c.735C> G (p.Tyr245Ter)SNVPathogenicrs202094637GRCh38Chr 21, 32602299: 32602299
19CCNONM_ 021147.4(CCNO): c.716A> G (p.His239Arg)SNVPathogenicrs797045150GRCh37Chr 5, 54527540: 54527540
20DNAH1NM_ 015512.4(DNAH1): c.3460A> C (p.Lys1154Gln)SNVPathogenicrs544674332GRCh37Chr 3, 52387629: 52387629
21MCIDASNM_ 001190787.1(MCIDAS): c.441C> A (p.Cys147Ter)SNVPathogenicrs777031813GRCh37Chr 5, 54518169: 54518169
22MCIDASNM_ 001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp)SNVPathogenicrs797045151GRCh37Chr 5, 54516255: 54516255
23MCIDASNM_ 001190787.1(MCIDAS): c.1142G> A (p.Arg381His)SNVPathogenicrs797045152GRCh37Chr 5, 54516210: 54516210
24RSPH3NM_ 031924.5(RSPH3): c.631-2A> GSNVPathogenicrs142800871GRCh37Chr 6, 159407455: 159407455
25DNAAF1NM_ 178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs)duplicationPathogenicrs397515339GRCh37Chr 16, 84203783: 84203783
26DNAAF1NM_ 178452.5(DNAAF1): c.524T> G (p.Leu175Arg)SNVPathogenicrs267607227GRCh37Chr 16, 84188353: 84188353
27DNAL1NM_ 031427.3(DNAL1): c.449A> G (p.Asn150Ser)SNVPathogenicrs387907021GRCh37Chr 14, 74156135: 74156135
28DNAAF3NM_ 001256714.1(DNAAF3): c.386T> C (p.Leu129Pro)SNVPathogenicrs387907151GRCh37Chr 19, 55677272: 55677272
29DNAAF3NM_ 001256714.1(DNAAF3): c.469C> T (p.Arg157Ter)SNVPathogenicrs387907152GRCh37Chr 19, 55676795: 55676795
30DNAAF3NM_ 001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs)duplicationPathogenicrs397515395GRCh37Chr 19, 55673053: 55673053
31CCDC103NM_ 213607.2(CCDC103): c.383dupG (p.Pro129Serfs)duplicationPathogenicrs587776910GRCh37Chr 17, 42979839: 42979839
32CCDC103NM_ 213607.2(CCDC103): c.461A> C (p.His154Pro)SNVPathogenicrs145457535GRCh37Chr 17, 42979917: 42979917
33CCDC114NM_ 144577.3(CCDC114): c.742G> A (p.Ala248Thr)SNVPathogenicrs147718607GRCh37Chr 19, 48807210: 48807210
34HYDINNM_ 001270974.2(HYDIN): c.3985G> T (p.Val1329Leu)SNVPathogenicrs397515413GRCh37Chr 16, 71022036: 71022036
35HYDINNM_ 001270974.2(HYDIN): c.922A> T (p.Lys308Ter)SNVPathogenicrs397515414GRCh37Chr 16, 71171175: 71171175
36DNAI2NM_ 023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54)SNVPathogenicrs397515358GRCh37Chr 17, 72283113: 72283113
37DNAAF2NM_ 018139.2(DNAAF2): c.23C> A (p.Ser8Ter)SNVPathogenicrs137853191GRCh37Chr 14, 50101845: 50101845
38DRC1NM_ 145038.4(DRC1): c.2056A> T (p.Lys686Ter)SNVPathogenicrs587776997GRCh37Chr 2, 26677651: 26677651
39DRC1NM_ 145038.4(DRC1): c.352C> T (p.Gln118Ter)SNVPathogenic/ Likely pathogenicrs142371860GRCh37Chr 2, 26644264: 26644264
40DNAI1NM_ 012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12)duplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
41DNAI1NM_ 012144.3(DNAI1): c.282_ 283insAATA (p.Gly95Asnfs)insertionPathogenicrs606231164GRCh38Chr 9, 34489343: 34489344
42DNAI1NM_ 012144.3(DNAI1): c.1543G> A (p.Gly515Ser)SNVPathogenic/ Likely pathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
43DNAI1NM_ 012144.3(DNAI1): c.1658_ 1669delCCAAGGTCTTCA (p.Thr553_ Phe556del)deletionPathogenicrs606231165GRCh38Chr 9, 34514482: 34514493
44DNAI1NM_ 012144.3(DNAI1): c.1490G> A (p.Gly497Asp)SNVPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
45DNAI1NM_ 012144.3(DNAI1): c.2001+1G> A (p.Ala607_ Lys667del)SNVPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466
46DNAI2NM_ 023036.4(DNAI2): c.1494+1G> C (p.Val450_ Ser498del)SNVPathogenicrs397515565GRCh37Chr 17, 72306303: 72306303
47ZMYND10NM_ 015896.3(ZMYND10): c.47T> G (p.Val16Gly)SNVPathogenicrs138815960GRCh37Chr 3, 50382964: 50382964
48ARMC4NM_ 018076.4(ARMC4): c.2780T> G (p.Leu927Trp)SNVPathogenicrs587777047GRCh37Chr 10, 28151382: 28151382
49RSPH1NM_ 080860.3(RSPH1): c.85G> T (p.Glu29Ter)SNVPathogenicrs138320978GRCh37Chr 21, 43913159: 43913159
50RSPH1NM_ 080860.3(RSPH1): c.366-3C> ASNVPathogenicrs587777058GRCh37Chr 21, 43905917: 43905917
51RSPH1NM_ 080860.3(RSPH1): c.407_ 410delAGTA (p.Lys136Metfs)deletionPathogenicrs587777059GRCh37Chr 21, 43905870: 43905873
52RSPH1NM_ 080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10)SNVPathogenicrs151107532GRCh37Chr 21, 43906573: 43906573
53RSPH9NM_ 152732.4(RSPH9): c.804_ 806delGAA (p.Lys268del)deletionPathogenicrs397515340GRCh37Chr 6, 43638659: 43638661
54SPAG1NC_ 000008.11: g.100151617_ 100163589del11973deletionPathogenicGRCh38Chr 8, 100151617: 100163589
55SPAG1NM_ 172218.2(SPAG1): c.2014C> T (p.Gln672Ter)SNVPathogenicrs201740530GRCh37Chr 8, 101245664: 101245664
56CCDC65NM_ 033124.4(CCDC65): c.877_ 878delAT (p.Ile293Profs)deletionPathogenic/ Likely pathogenicrs863223325GRCh37Chr 12, 49312537: 49312538
57C21orf59NM_ 021254.3(C21orf59): c.292C> T (p.Arg98Ter)SNVPathogenicrs143740376GRCh37Chr 21, 33982163: 33982163
58C21orf59NM_ 021254.3(C21orf59): c.792_ 795delTTTA (p.Tyr264Terfs)deletionPathogenicrs398122401GRCh37Chr 21, 33974251: 33974254
59RSPH4ANM_ 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:000585811.1DNAH5, DNAI2
2dynein complexGO:003028610.7DNAH5, DNAI1, DNAI2
3motile ciliumGO:003151410.2CCDC103, RSPH4A, RSPH9
4outer dynein armGO:003615710.0CCDC114, DNAH5, DNAI1, DNAI2
5axonemeGO:000593010.0ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5
6ciliumGO:00059299.6ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5
7cytoskeletonGO:00058569.5ARMC4, CCDC151, DNAAF1, DNAH5, DNAI1, DNAI2
8cell projectionGO:00429959.4ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5
9cytoplasmGO:00057378.9ARMC4, C21orf59, CCDC103, CCDC151, DNAAF1, DNAAF2

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

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1axoneme assemblyGO:003508210.9RSPH4A, RSPH9
2determination of digestive tract left/right asymmetryGO:007190710.9CCDC103, DNAAF1
3bacterial-type flagellum-dependent cell motilityGO:007197310.9DNAAF2, DRC1
4cilium-dependent cell motilityGO:006028510.8DNAAF2, DRC1
5cilium assemblyGO:006027110.8DNAAF1, DNAH5, DNAI2
6flagellated sperm motilityGO:003031710.8DNAH5, DNAI1, LRRC6
7epithelial cilium movement involved in determination of left/right asymmetryGO:006028710.7CCDC103, DNAAF1, LRRC6
8regulation of cilium beat frequencyGO:000335610.5ARMC4, DNAAF1
9heart developmentGO:000750710.4ARMC4, DNAH5, DNAI1, DRC1
10inner dynein arm assemblyGO:003615910.4CCDC103, DNAAF1, LRRC6, ZMYND10
11cell projection organizationGO:003003010.4ARMC4, CCDC103, CCDC151, DNAAF3, DNAI1, DNAI2
12determination of left/right symmetryGO:000736810.3ARMC4, CCDC151, DNAH5, DNAI1, DNAI2, DRC1
13motile cilium assemblyGO:004445810.2DNAAF1, DNAAF3, LRRC6, RSPH9, ZMYND10
14ventricular system developmentGO:002159110.2ARMC4, HYDIN
15axonemal dynein complex assemblyGO:007028610.2CCDC103, CCDC151, DNAAF1, DNAAF2, DNAAF3, DRC1
16cilium movementGO:00033419.6ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5
17outer dynein arm assemblyGO:00361589.5ARMC4, CCDC103, CCDC114, CCDC151, DNAAF1, DNAH5

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

idNameGO IDScoreTop Affiliating Genes
1motor activityGO:000377410.2DNAH5, DNAI1, DNAI2

Sources for Kartagener Syndrome

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