MCID: KRT010
MIFTS: 45

Kartagener Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Kartagener Syndrome

Aliases & Descriptions for Kartagener Syndrome:

Name: Kartagener Syndrome 38 12 50 24 52 42 14 69
Kartagener's Syndrome 12 29
Siewert Syndrome 50 24
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 50
Primary Ciliary Dyskinesia and Situs Inversus 50
Primary Ciliary Dyskinesia, Kartagener Type 50
Dextrocardia, Bronchiectasis, and Sinusitis 24
Dextrocardia Bronchiectasis and Sinusitis 50
Immotile Cilia Syndrome, Kartagener Type 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0050144
MeSH 42 D007619
NCIt 47 C84797
SNOMED-CT 64 42402006 86204009
UMLS 69 C0022521

Summaries for Kartagener Syndrome

NIH Rare Diseases : 50 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). The drugs Azithromycin and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include lung and cervix, and related phenotype is respiratory system.

Disease Ontology : 12 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

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

(show top 50) (show all 59)
id Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 11.6
2 ciliary dyskinesia, primary, 1, with or without situs inversus 11.5
3 bronchiectasis 11.1
4 ciliary dyskinesia, primary, 23 10.7
5 ciliary dyskinesia, primary, 9, with or without situs inversus 10.7
6 ciliary dyskinesia, primary, 27 10.7
7 ciliary dyskinesia, primary, 10 10.7
8 ciliary dyskinesia, primary, 16 10.7
9 ciliary dyskinesia, primary, 25 10.7
10 dextrocardia with situs inversus 10.7
11 ciliary dyskinesia, primary, 21 10.7
12 ciliary dyskinesia, primary, 5 10.7
13 ciliary dyskinesia, primary, 22 10.7
14 ciliary dyskinesia, primary, 13 10.7
15 ciliary dyskinesia, primary, 14 10.7
16 ciliary dyskinesia, primary, 17 10.7
17 ciliary dyskinesia, primary, 12 10.7
18 ciliary dyskinesia, primary, 15 10.7
19 primary ciliary dyskinesia 35 10.7
20 ciliary dyskinesia, primary, 11 10.7
21 ciliary dyskinesia, primary, 30 10.7
22 ciliary dyskinesia, primary, 18 10.7
23 ciliary dyskinesia, primary, 20 10.7
24 ciliary dyskinesia, primary, 6 10.7
25 ciliary dyskinesia, primary, 2 10.7
26 ciliary dyskinesia, primary, 26 10.7
27 ciliary dyskinesia, primary, 28 10.7
28 ciliary dyskinesia, primary, 3, with or without situs inversus 10.7
29 ciliary dyskinesia, primary, 19 10.7
30 ciliary dyskinesia, primary, 7, with or without situs inversus 10.7
31 lymphoepithelioma-like thymic carcinoma 10.2 DNAAF1 DNAH5 DNAI1 DNAI2
32 gaucher disease, atypical 10.1 DNAAF1 DNAH5 DNAI1 DNAI2 RSPH4A RSPH9
33 jmp syndrome 9.9 CCDC114 DNAAF1 DNAH5 DNAI1 DNAI2 RSPH4A
34 situs inversus 9.9
35 arthritis 9.8
36 focal segmental glomerulosclerosis 9.8
37 rheumatoid arthritis 9.8
38 glomerulonephritis 9.8
39 cleft lip and palate malrotation cardiopathy 9.6 ARMC4 CCDC103 CCDC151 DNAAF2 DNAAF3 DNAL1
40 adenosquamous carcinoma 9.6
41 aspergillosis 9.6
42 lung disease 9.6
43 amyloidosis 9.6
44 myocardial infarction 9.6
45 sinusitis 9.6
46 heterotaxy 9.6
47 scoliosis 9.6
48 mycobacterium abscessus 9.6
49 lung abscess 9.6
50 allergic bronchopulmonary aspergillosis 9.6

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



Diseases related to Kartagener Syndrome

Symptoms & Phenotypes for Kartagener Syndrome

MGI Mouse Phenotypes related to Kartagener Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.32 DNAAF2 DNAAF3 DNAH5 DNAI1 DNAI2 DNAL1

Drugs & Therapeutics for Kartagener Syndrome

Drugs for Kartagener Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 55185 53477736 447043
2 Pharmaceutical Solutions Phase 2
3
Nitric Oxide Approved 10102-43-9 145068
4
Menthol Approved 2216-51-5 16666
5 Neurotransmitter Agents
6 Peripheral Nervous System Agents
7 Vasodilator Agents
8 Endothelium-Dependent Relaxing Factors
9 Anti-Asthmatic Agents
10 Protective Agents
11 Respiratory System Agents
12 Autonomic Agents
13 Bronchodilator Agents
14 Antioxidants
15 Albuterol

Interventional clinical trials:

(show all 26)
id Name Status NCT ID Phase
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Active, not recruiting NCT02531984 Phase 3
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Recruiting NCT02871778 Phase 2
3 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
4 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
5 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Unknown status NCT01929356
6 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
7 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
8 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
9 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
10 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
11 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
12 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
13 Determination of Normal Values of Nasal Nitric Oxide in Adults Completed NCT02133547
14 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
15 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
16 Electrical Impedance Tomography of Lung in Child and Young Age Completed NCT02290535
17 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
18 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
19 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
20 Natural History of Bronchiectasis Recruiting NCT00943514
21 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
22 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
23 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
24 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
25 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
26 Exhaled Nitric Oxide Levels in Infants and Young Children Infected With RSV or Other Viral Infections Withdrawn NCT01098227

Search NIH Clinical Center for Kartagener Syndrome

Cochrane evidence based reviews: kartagener syndrome

Genetic Tests for Kartagener Syndrome

Genetic tests related to Kartagener Syndrome:

id Genetic test Affiliating Genes
1 Kartagener Syndrome 29 24

Anatomical Context for Kartagener Syndrome

MalaCards organs/tissues related to Kartagener Syndrome:

39
Lung, Cervix

Publications for Kartagener Syndrome

Articles related to Kartagener Syndrome:

(show top 50) (show all 74)
id Title Authors Year
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

ClinVar genetic disease variations for Kartagener Syndrome:

6 (show top 50) (show all 59)
id Gene Variation Type Significance SNP ID Assembly Location
1 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
2 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
3 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
4 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
5 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
6 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh38 Chromosome 9, 34489343: 34489344
7 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
8 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh38 Chromosome 9, 34514482: 34514493
9 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
10 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh37 Chromosome 19, 55677272: 55677272
11 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh37 Chromosome 19, 55676795: 55676795
12 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh37 Chromosome 19, 55673053: 55673053
13 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
14 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
15 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
16 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
17 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
18 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
19 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
20 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
21 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh37 Chromosome 9, 34517466: 34517466
22 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh37 Chromosome 17, 72306303: 72306303
23 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
24 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
25 RSPH1 NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs138320978 GRCh37 Chromosome 21, 43913159: 43913159
26 RSPH1 NM_080860.3(RSPH1): c.366-3C> A single nucleotide variant Pathogenic rs587777058 GRCh37 Chromosome 21, 43905917: 43905917
27 RSPH1 NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs) deletion Pathogenic rs587777059 GRCh37 Chromosome 21, 43905870: 43905873
28 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh37 Chromosome 21, 43906573: 43906573
29 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
30 SPAG1 NC_000008.11: g.100151617_100163589del11973 deletion Pathogenic GRCh38 Chromosome 8, 100151617: 100163589
31 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh37 Chromosome 8, 101245664: 101245664
32 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Pathogenic/Likely pathogenic rs863223325 GRCh37 Chromosome 12, 49312537: 49312538
33 C21orf59 NM_021254.3(C21orf59): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs143740376 GRCh37 Chromosome 21, 33982163: 33982163
34 C21orf59 NM_021254.3(C21orf59): c.792_795delTTTA (p.Tyr264Terfs) deletion Pathogenic rs398122401 GRCh37 Chromosome 21, 33974251: 33974254
35 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh37 Chromosome 6, 116944168: 116944171
36 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh38 Chromosome 5, 55233272: 55233276
37 CCNO NM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs) duplication Pathogenic rs587777499 GRCh38 Chromosome 5, 55233262: 55233266
38 CCNO NM_021147.4(CCNO): c.926delC (p.Pro309Argfs) deletion Pathogenic rs587777500 GRCh38 Chromosome 5, 55231502: 55231502
39 CCNO NM_021147.4(CCNO): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587777501 GRCh38 Chromosome 5, 55231467: 55231467
40 CCNO NM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs) duplication Pathogenic rs587777502 GRCh38 Chromosome 5, 55233257: 55233261
41 CCNO NM_021147.4(CCNO): c.481_482delCT (p.Leu161Glyfs) deletion Pathogenic rs587777503 GRCh38 Chromosome 5, 55232446: 55232447
42 CCDC151 NM_145045.4(CCDC151): c.925G> T (p.Glu309Ter) single nucleotide variant Pathogenic rs587777779 GRCh38 Chromosome 19, 11426182: 11426182
43 CCDC151 NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter) single nucleotide variant Pathogenic rs587777780 GRCh37 Chromosome 19, 11533390: 11533390
44 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh38 Chromosome 14, 49633936: 49633951
45 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh37 Chromosome 3, 52387629: 52387629
46 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh37 Chromosome 5, 13865784: 13865784
47 MCIDAS NM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs797045152 GRCh37 Chromosome 5, 54516210: 54516210
48 MCIDAS NM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp) single nucleotide variant Pathogenic rs797045151 GRCh37 Chromosome 5, 54516255: 54516255
49 MCIDAS NM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs777031813 GRCh37 Chromosome 5, 54518169: 54518169
50 CCNO NM_021147.4(CCNO): c.716A> G (p.His239Arg) single nucleotide variant Pathogenic rs797045150 GRCh37 Chromosome 5, 54527540: 54527540

Copy number variations for Kartagener Syndrome from CNVD:

7 (show all 11)
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 31931 3 32100000 51400000 Copy number ACVR2B Kartagener syndrome
2 119167 18 1 16100000 Deletion Kartagener syndrome
3 140087 2 191600000 197100000 Copy number DNAH7 Kartagener syndrome
4 143471 2 237000000 242951149 Microdeletion Kartagener syndrome
5 145005 9 32800000 36300000 Copy number DNAI1 Kartagener syndrome
6 147926 7 7200000 19500000 Copy number DNAH11 Kartagener syndrome
7 193431 2 129600000 132200000 Copy number CFC-1 Kartagener syndrome
8 203984 6 104800000 135200000 Copy number CX43 Kartagener syndrome
9 217070 5 1 29300000 Copy number DNAH5 Kartagener syndrome
10 250806 1 222100000 228800000 Copy number LEFTYA Kartagener syndrome
11 266643 X 133500000 137800000 Copy number ZIC3 Kartagener syndrome

Expression for Kartagener Syndrome

Search GEO for disease gene expression data for Kartagener Syndrome.

Pathways for Kartagener Syndrome

GO Terms for Kartagener Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.77 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
2 motile cilium GO:0031514 9.63 CCDC103 RSPH4A RSPH9
3 dynein complex GO:0030286 9.58 DNAH5 DNAI1 DNAI2
4 outer dynein arm GO:0036157 9.56 CCDC114 DNAH5 DNAI1 DNAI2
5 axonemal dynein complex GO:0005858 9.43 DNAH5 DNAI2
6 axoneme GO:0005930 9.32 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
7 cytoplasm GO:0005737 10.3 ARMC4 C21orf59 CCDC103 CCDC151 DNAAF1 DNAAF2
8 cytoskeleton GO:0005856 10.06 ARMC4 CCDC151 DNAAF1 DNAH5 DNAI1 DNAI2
9 cell projection GO:0042995 10 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 cilium movement GO:0003341 9.93 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
2 cell projection organization GO:0030030 9.88 ARMC4 CCDC103 CCDC151 DNAAF3 DNAI1 DNAI2
3 heart development GO:0007507 9.84 ARMC4 DNAH5 DNAI1 DRC1
4 determination of left/right symmetry GO:0007368 9.8 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
5 cilium assembly GO:0060271 9.74 DNAAF1 DNAH5 DNAI2
6 flagellated sperm motility GO:0030317 9.69 DNAH5 DNAI1 LRRC6
7 inner dynein arm assembly GO:0036159 9.67 CCDC103 DNAAF1 LRRC6 ZMYND10
8 motile cilium assembly GO:0044458 9.65 DNAAF1 DNAAF3 LRRC6 RSPH9 ZMYND10
9 outer dynein arm assembly GO:0036158 9.65 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
10 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.61 CCDC103 DNAAF1 LRRC6
11 axoneme assembly GO:0035082 9.56 RSPH4A RSPH9
12 ventricular system development GO:0021591 9.55 ARMC4 HYDIN
13 cilium-dependent cell motility GO:0060285 9.52 DNAAF2 DRC1
14 determination of digestive tract left/right asymmetry GO:0071907 9.49 CCDC103 DNAAF1
15 regulation of cilium beat frequency GO:0003356 9.48 ARMC4 DNAAF1
16 bacterial-type flagellum-dependent cell motility GO:0071973 9.46 DNAAF2 DRC1
17 axonemal dynein complex assembly GO:0070286 9.17 CCDC103 CCDC151 DNAAF1 DNAAF2 DNAAF3 DRC1

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

id Name GO ID Score Top Affiliating Genes
1 motor activity GO:0003774 8.8 DNAH5 DNAI1 DNAI2

Sources for Kartagener Syndrome

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