MCID: KRT010
MIFTS: 46

Kartagener Syndrome

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Kartagener Syndrome

MalaCards integrated aliases for Kartagener Syndrome:

Name: Kartagener Syndrome 37 12 72 49 28 51 41 14 69
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 49
Primary Ciliary Dyskinesia and Situs Inversus 49
Primary Ciliary Dyskinesia, Kartagener Type 49
Dextrocardia Bronchiectasis and Sinusitis 49
Immotile Cilia Syndrome, Kartagener Type 49
Kartagener's Syndrome 12
Siewert Syndrome 49

Classifications:



External Ids:

Disease Ontology 12 DOID:0050144
MeSH 41 D007619
NCIt 46 C84797
SNOMED-CT 64 42402006 86204009
UMLS 69 C0022521

Summaries for Kartagener Syndrome

NIH Rare Diseases : 49 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 dextrocardia-bronchiectasis-sinusitis syndrome, is related to ciliary dyskinesia, primary, 1 and primary ciliary dyskinesia, and has symptoms including headache 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, heart and liver, 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 : 72 Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a... 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 66)
# Related Disease Score Top Affiliating Genes
1 ciliary dyskinesia, primary, 1 30.7 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
2 primary ciliary dyskinesia 29.8 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
3 situs inversus 29.7 CCDC40 DNAAF1 DNAH5 DNAI1 DNAI2 RSPH9
4 bronchiectasis 11.3
5 ciliary dyskinesia, primary, 36, x-linked 10.8
6 ciliary dyskinesia, primary, 2 10.8
7 ciliary dyskinesia, primary, 3 10.8
8 ciliary dyskinesia, primary, 5 10.8
9 ciliary dyskinesia, primary, 6 10.8
10 ciliary dyskinesia, primary, 7 10.8
11 ciliary dyskinesia, primary, 9 10.8
12 ciliary dyskinesia, primary, 10 10.8
13 ciliary dyskinesia, primary, 11 10.8
14 ciliary dyskinesia, primary, 12 10.8
15 ciliary dyskinesia, primary, 13 10.8
16 ciliary dyskinesia, primary, 14 10.8
17 ciliary dyskinesia, primary, 15 10.8
18 ciliary dyskinesia, primary, 16 10.8
19 ciliary dyskinesia, primary, 17 10.8
20 ciliary dyskinesia, primary, 18 10.8
21 ciliary dyskinesia, primary, 19 10.8
22 ciliary dyskinesia, primary, 20 10.8
23 ciliary dyskinesia, primary, 21 10.8
24 ciliary dyskinesia, primary, 22 10.8
25 ciliary dyskinesia, primary, 23 10.8
26 ciliary dyskinesia, primary, 25 10.8
27 ciliary dyskinesia, primary, 26 10.8
28 ciliary dyskinesia, primary, 27 10.8
29 ciliary dyskinesia, primary, 28 10.8
30 ciliary dyskinesia, primary, 30 10.8
31 ciliary dyskinesia, primary, 35 10.8
32 ciliary dyskinesia, primary, 37 10.8
33 dextrocardia with situs inversus 10.8
34 rheumatoid arthritis 9.8
35 familial mediterranean fever 9.8
36 focal segmental glomerulosclerosis 1 9.8
37 arthritis 9.8
38 focal segmental glomerulosclerosis 9.8
39 glomerulonephritis 9.8
40 brucellosis 9.8
41 amyloidosis 9.8
42 amyotrophic lateral sclerosis 1 9.7
43 fibrosis of extraocular muscles, congenital, 1 9.7
44 pulmonary hypertension, primary, 1 9.7
45 cystic fibrosis 9.7
46 hydrocephalus, nonsyndromic, autosomal recessive 1 9.7
47 myocardial infarction 9.7
48 aspergillosis 9.7
49 hydrocephalus, nonsyndromic, autosomal recessive 2 9.7
50 sinusitis 9.7

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



Diseases related to Kartagener Syndrome

Symptoms & Phenotypes for Kartagener Syndrome

UMLS symptoms related to Kartagener Syndrome:


headache

MGI Mouse Phenotypes related to Kartagener Syndrome:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 respiratory system MP:0005388 9.4 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH1

Drugs & Therapeutics for Kartagener Syndrome

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

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 53477736 447043 55185
2 Pharmaceutical Solutions Phase 2
3
Nitric Oxide Approved 10102-43-9 145068
4
Menthol Approved 2216-51-5 16666
5 Anti-Asthmatic Agents
6 Antioxidants
7 Autonomic Agents
8 Bronchodilator Agents
9 Endothelium-Dependent Relaxing Factors
10 Neurotransmitter Agents
11 Peripheral Nervous System Agents
12 Protective Agents
13 Respiratory System Agents
14 Vasodilator Agents
15 Albuterol
16 Liver Extracts

Interventional clinical trials:

(show all 31)

# Name Status NCT ID Phase Drugs
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Active, not recruiting NCT02531984 Phase 3 Azithromycin
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Recruiting NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
3 Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
4 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
5 Comparison of On-line and Off-line Measurements of Exhaled Nitric Oxide (NO) Unknown status NCT00686309
6 Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
7 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
8 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
9 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
10 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
11 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
12 Determination of Normal Values of Nasal Nitric Oxide in Adults Completed NCT02133547
13 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
14 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
15 Electrical Impedance Tomography of Lung in Child and Young Age Completed NCT02290535
16 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
17 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Recruiting NCT03370029
18 Genetics of Primary Ciliary Dyskinesia Recruiting NCT02389049
19 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
20 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
21 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
22 High Resolution Micro OCT Imaging Recruiting NCT03256773
23 Natural History of Bronchiectasis Recruiting NCT00943514
24 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
25 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
26 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
27 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
28 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
29 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
30 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356
31 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:

# Genetic test Affiliating Genes
1 Kartagener Syndrome 28 DNAI1

Anatomical Context for Kartagener Syndrome

MalaCards organs/tissues related to Kartagener Syndrome:

38
Lung, Heart, Liver, Cervix, Pancreas, Kidney

Publications for Kartagener Syndrome

Articles related to Kartagener Syndrome:

(show top 50) (show all 79)
# Title Authors Year
1
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
2
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
3
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. ( 29152435 )
2017
4
Kartagener Syndrome. ( 28402566 )
2017
5
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
6
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. ( 28952366 )
2017
7
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. ( 27988889 )
2016
8
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. ( 26976528 )
2016
9
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
10
A case of Kartagener syndrome. ( 27728621 )
2016
11
A case report of kartagener syndrome. ( 27728632 )
2016
12
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. ( 26960394 )
2016
13
A case of Kartagener syndrome with rhinolalia clausa. ( 27375831 )
2016
14
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. ( 26227396 )
2015
15
Kartagener syndrome. ( 25633235 )
2015
16
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. ( 26250371 )
2015
17
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. ( 25956262 )
2015
18
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. ( 25576715 )
2015
19
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. ( 26284775 )
2015
20
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. ( 27366497 )
2015
21
Kartagener syndrome: a not so rare phenomenon. ( 25672196 )
2014
22
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. ( 25367485 )
2014
23
Re: Kartagener syndrome with focal segmental glomerulosclerosis. ( 25001147 )
2014
24
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. ( 25087796 )
2014
25
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. ( 25178347 )
2014
26
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. ( 25309609 )
2014
27
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 24533546 )
2014
28
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. ( 24718008 )
2014
29
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. ( 25207108 )
2013
30
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. ( 25755941 )
2013
31
An unusual regression of the symptoms of Kartagener syndrome. ( 22551925 )
2013
32
Kartagener syndrome with focal segmental glomerulosclerosis. ( 24241099 )
2013
33
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 23563507 )
2013
34
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. ( 23288129 )
2012
35
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. ( 22595222 )
2012
36
An unusual case of Kartagener syndrome. ( 21497979 )
2012
37
Kartagener syndrome. ( 21372103 )
2012
38
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. ( 22104985 )
2012
39
Kartagener syndrome. ( 21403791 )
2011
40
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. ( 21718985 )
2011
41
Kartagener syndrome. ( 20562592 )
2011
42
Bronchiolitis as a feature of kartagener syndrome: a case report. ( 23169026 )
2011
43
Diagnosis: Kartagener syndrome. ( 20697168 )
2010
44
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. ( 20868986 )
2010
45
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. ( 20550487 )
2010
46
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. ( 20796272 )
2010
47
Kartagener syndrome in a Nigerian African--a case report and literature review. ( 20120152 )
2009
48
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. ( 19606528 )
2009
49
Kartagener syndrome: a rare genetic disorder. ( 19529061 )
2009
50
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. ( 18270537 )
2008

Variations for Kartagener Syndrome

ClinVar genetic disease variations for Kartagener Syndrome:

6 (show top 50) (show all 61)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
2 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh37 Chromosome 19, 55677272: 55677272
3 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh37 Chromosome 19, 55676795: 55676795
4 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh37 Chromosome 19, 55673053: 55673053
5 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
6 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
7 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
8 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
9 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
10 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
11 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
12 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
13 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh37 Chromosome 9, 34517466: 34517466
14 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh37 Chromosome 17, 72306303: 72306303
15 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
16 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Pathogenic/Likely pathogenic rs200913791 GRCh37 Chromosome 3, 50379904: 50379904
17 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
18 RSPH1 NM_080860.3(RSPH1): c.85G> T (p.Glu29Ter) single nucleotide variant Pathogenic rs138320978 GRCh37 Chromosome 21, 43913159: 43913159
19 RSPH1 NM_080860.3(RSPH1): c.366-3C> A single nucleotide variant Pathogenic rs587777058 GRCh37 Chromosome 21, 43905917: 43905917
20 RSPH1 NM_080860.3(RSPH1): c.407_410delAGTA (p.Lys136Metfs) deletion Pathogenic rs587777059 GRCh37 Chromosome 21, 43905870: 43905873
21 RSPH1 NM_080860.3(RSPH1): c.275-2A> C (p.Gly92AlafsTer10) single nucleotide variant Pathogenic rs151107532 GRCh37 Chromosome 21, 43906573: 43906573
22 RSPH9 NM_152732.4(RSPH9): c.804_806delGAA (p.Lys268del) deletion Pathogenic rs397515340 GRCh37 Chromosome 6, 43638659: 43638661
23 SPAG1 NC_000008.11: g.100151617_100163589del11973 deletion Pathogenic GRCh38 Chromosome 8, 100151617: 100163589
24 SPAG1 NM_172218.2(SPAG1): c.2014C> T (p.Gln672Ter) single nucleotide variant Pathogenic rs201740530 GRCh37 Chromosome 8, 101245664: 101245664
25 CCDC65 NM_033124.4(CCDC65): c.877_878delAT (p.Ile293Profs) deletion Pathogenic/Likely pathogenic rs863223325 GRCh37 Chromosome 12, 49312537: 49312538
26 CFAP298 NM_021254.3(CFAP298): c.292C> T (p.Arg98Ter) single nucleotide variant Pathogenic rs143740376 GRCh37 Chromosome 21, 33982163: 33982163
27 CFAP298 NM_021254.3(CFAP298): c.792_795delTTTA (p.Tyr264Terfs) deletion Pathogenic rs398122401 GRCh37 Chromosome 21, 33974251: 33974254
28 RSPH4A NM_001010892.2(RSPH4A): c.921+3_921+6delAAGT (p.Tyr230GlnfsTer8) deletion Pathogenic rs869320683 GRCh37 Chromosome 6, 116944168: 116944171
29 CCNO NM_021147.4(CCNO): c.248_252dupTGCCC (p.Gly85Cysfs) duplication Pathogenic rs587777498 GRCh38 Chromosome 5, 55233272: 55233276
30 CCNO NM_021147.4(CCNO): c.258_262dupGGCCC (p.Gln88Argfs) duplication Pathogenic rs587777499 GRCh38 Chromosome 5, 55233262: 55233266
31 CCNO NM_021147.4(CCNO): c.926delC (p.Pro309Argfs) deletion Pathogenic rs587777500 GRCh38 Chromosome 5, 55231502: 55231502
32 CCNO NM_021147.4(CCNO): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs587777501 GRCh38 Chromosome 5, 55231467: 55231467
33 CCNO NM_021147.4(CCNO): c.263_267dupAGCCC (p.Val90Serfs) duplication Pathogenic rs587777502 GRCh38 Chromosome 5, 55233257: 55233261
34 CCNO NM_021147.4(CCNO): c.481_482delCT (p.Leu161Glyfs) deletion Pathogenic rs587777503 GRCh38 Chromosome 5, 55232446: 55232447
35 CCDC151 NM_145045.4(CCDC151): c.925G> T (p.Glu309Ter) single nucleotide variant Pathogenic rs587777779 GRCh38 Chromosome 19, 11426182: 11426182
36 CCDC151 NM_145045.4(CCDC151): c.1256C> A (p.Ser419Ter) single nucleotide variant Pathogenic rs587777780 GRCh37 Chromosome 19, 11533390: 11533390
37 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
38 DNAAF1 NM_178452.5(DNAAF1): c.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
39 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
40 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
41 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
42 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
43 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh38 Chromosome 9, 34489343: 34489344
44 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Pathogenic/Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
45 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh38 Chromosome 9, 34514482: 34514493
46 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh38 Chromosome 14, 49633936: 49633951
47 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh37 Chromosome 3, 52387629: 52387629
48 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh37 Chromosome 5, 13865784: 13865784
49 MCIDAS NM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs797045152 GRCh37 Chromosome 5, 54516210: 54516210
50 MCIDAS NM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp) single nucleotide variant Pathogenic rs797045151 GRCh37 Chromosome 5, 54516255: 54516255

Copy number variations for Kartagener Syndrome from CNVD:

7 (show all 11)
# 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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.83 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
2 cilium GO:0005929 9.83 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
3 dynein complex GO:0030286 9.77 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
4 motile cilium GO:0031514 9.65 CCDC103 RSPH4A RSPH9
5 outer dynein arm GO:0036157 9.65 CCDC114 DNAH5 DNAI1 DNAI2 DNAL1
6 sperm flagellum GO:0036126 9.49 DNAH1 DNAI2
7 axonemal dynein complex GO:0005858 9.46 DNAH1 DNAI2
8 axoneme GO:0005930 9.4 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
9 cytoplasm GO:0005737 10.33 ARMC4 CCDC103 CCDC151 CCDC40 DNAAF1 DNAAF2
10 cytoskeleton GO:0005856 10.1 ARMC4 CCDC151 DNAAF1 DNAH1 DNAH5 DNAI1
11 cell projection GO:0042995 10.06 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.93 ARMC4 CCDC103 CCDC151 DNAAF3 DNAI1 DNAI2
2 determination of left/right symmetry GO:0007368 9.85 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
3 flagellated sperm motility GO:0030317 9.83 CCDC40 DNAH1 DNAH5 DNAI1 LRRC6
4 motile cilium assembly GO:0044458 9.8 CCDC40 DNAAF1 DNAAF3 LRRC6 RSPH9 ZMYND10
5 cilium assembly GO:0060271 9.76 DNAAF1 DNAH5 DNAI2
6 heart looping GO:0001947 9.73 CCDC103 CCDC40 DNAAF1
7 inner dynein arm assembly GO:0036159 9.73 CCDC103 CCDC40 DNAAF1 DNAH1 LRRC6 ZMYND10
8 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.71 CCDC103 CCDC40 DNAAF1 LRRC6
9 axoneme assembly GO:0035082 9.7 CCDC40 RSPH4A RSPH9
10 outer dynein arm assembly GO:0036158 9.7 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
11 cilium-dependent cell motility GO:0060285 9.69 DNAAF2 DNAH1 DRC1
12 determination of digestive tract left/right asymmetry GO:0071907 9.67 CCDC103 CCDC40 DNAAF1
13 regulation of cilium beat frequency GO:0003356 9.65 ARMC4 CCDC40 DNAAF1
14 ventricular system development GO:0021591 9.58 ARMC4 HYDIN
15 epithelial cilium movement GO:0003351 9.57 CCDC40 DNAI1
16 determination of liver left/right asymmetry GO:0071910 9.55 CCDC40 DNAAF1
17 determination of pancreatic left/right asymmetry GO:0035469 9.54 CCDC40 DNAAF1
18 axonemal dynein complex assembly GO:0070286 9.23 CCDC103 CCDC151 CCDC40 DNAAF1 DNAAF2 DNAAF3
19 cilium movement GO:0003341 10 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1

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

# Name GO ID Score Top Affiliating Genes
1 dynein light intermediate chain binding GO:0051959 9.43 DNAH1 DNAH5
2 microtubule motor activity GO:0003777 9.43 DNAH1 DNAH5 DNAI2
3 dynein intermediate chain binding GO:0045505 9.4 DNAH1 DNAH5
4 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.37 DNAI1 DNAI2
5 motor activity GO:0003774 9.35 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
6 dynein heavy chain binding GO:0045504 9.33 DNAI1 DNAI2 DNAL1
7 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH1 DNAH5
8 dynein light chain binding GO:0045503 8.92 DNAH1 DNAH5 DNAI1 DNAI2

Sources for Kartagener Syndrome

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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67 TGDB
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