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MCID: KRT010
MIFTS: 48

Kartagener Syndrome

Categories: Ear diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Kartagener Syndrome

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MalaCards integrated aliases for Kartagener Syndrome:

Name: Kartagener Syndrome 39 12 77 54 30 56 6 45 15 17 74
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 54
Primary Ciliary Dyskinesia and Situs Inversus 54
Primary Ciliary Dyskinesia, Kartagener Type 54
Dextrocardia Bronchiectasis and Sinusitis 54
Immotile Cilia Syndrome, Kartagener Type 54
Kartagener's Syndrome 12
Siewert Syndrome 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases Ear diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050144
MeSH 45 D007619
SNOMED-CT 69 42402006
UMLS 74 C0022521
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Summaries for Kartagener Syndrome

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NIH Rare Diseases : 54 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.

MalaCards based summary : Kartagener Syndrome, also known as dextrocardia-bronchiectasis-sinusitis syndrome, is related to bronchiectasis 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 Ivacaftor have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related phenotypes are cellular and growth/size/body region

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 : 77 Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a... more...

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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 96)
# Related Disease Score Top Affiliating Genes
1 bronchiectasis 32.5 CCDC40 DNAH5 DNAI1
2 primary ciliary dyskinesia 32.4 ARMC4 CCDC114 DNAAF2 DNAH1 DNAH5 DNAI1
3 ciliary dyskinesia, primary, 1 31.7 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 CFAP298
4 situs inversus 30.5 ARMC4 CCDC40 DNAAF1 DNAH5 DNAI1 DNAI2
5 dextrocardia with situs inversus 11.3
6 ciliary dyskinesia, primary, 36, x-linked 11.0
7 ciliary dyskinesia, primary, 2 11.0
8 ciliary dyskinesia, primary, 3 11.0
9 ciliary dyskinesia, primary, 5 11.0
10 ciliary dyskinesia, primary, 6 11.0
11 ciliary dyskinesia, primary, 7 11.0
12 ciliary dyskinesia, primary, 9 11.0
13 ciliary dyskinesia, primary, 10 11.0
14 ciliary dyskinesia, primary, 11 11.0
15 ciliary dyskinesia, primary, 12 11.0
16 ciliary dyskinesia, primary, 13 11.0
17 ciliary dyskinesia, primary, 14 11.0
18 ciliary dyskinesia, primary, 15 11.0
19 ciliary dyskinesia, primary, 16 11.0
20 ciliary dyskinesia, primary, 17 11.0
21 ciliary dyskinesia, primary, 18 11.0
22 ciliary dyskinesia, primary, 19 11.0
23 ciliary dyskinesia, primary, 20 11.0
24 ciliary dyskinesia, primary, 21 11.0
25 ciliary dyskinesia, primary, 22 11.0
26 ciliary dyskinesia, primary, 23 11.0
27 ciliary dyskinesia, primary, 25 11.0
28 ciliary dyskinesia, primary, 26 11.0
29 ciliary dyskinesia, primary, 27 11.0
30 ciliary dyskinesia, primary, 28 11.0
31 ciliary dyskinesia, primary, 30 11.0
32 ciliary dyskinesia, primary, 35 11.0
33 ciliary dyskinesia, primary, 37 11.0
34 ciliary dyskinesia, primary, 38 11.0
35 ciliary dyskinesia, primary, 40 11.0
36 sinusitis 10.2
37 acute retrobulbar neuritis 10.2 DNAI1 DNAI2
38 azoospermia 10.1
39 dextrocardia 10.1
40 rheumatoid arthritis 10.1
41 familial mediterranean fever 10.1
42 focal segmental glomerulosclerosis 1 10.1
43 arthritis 10.1
44 focal segmental glomerulosclerosis 10.1
45 glomerulonephritis 10.1
46 kidney disease 10.1
47 amyloidosis 10.1
48 double discordia 10.0
49 amyotrophic lateral sclerosis 1 9.9
50 renal cell carcinoma, nonpapillary 9.9

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



Diseases related to Kartagener Syndrome
Sources

Symptoms & Phenotypes for Kartagener Syndrome

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UMLS symptoms related to Kartagener Syndrome:


headache

MGI Mouse Phenotypes related to Kartagener Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
2 growth/size/body region MP:0005378 9.7 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
3 respiratory system MP:0005388 9.4 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH1
Sources

Drugs & Therapeutics for Kartagener Syndrome

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

(show all 39)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 55185 447043
2
Ivacaftor Approved Phase 2 873054-44-5 16220172
3 Pharmaceutical Solutions Phase 2,Early Phase 1
4
Nitric Oxide Approved ,Not Applicable 10102-43-9 145068
5
Methylprednisolone hemisuccinate Approved Early Phase 1 2921-57-5
6
mometasone furoate Approved, Investigational, Vet_approved Early Phase 1 83919-23-7
7
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
8
Prednisolone phosphate Approved, Vet_approved Early Phase 1 302-25-0
9
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
10
Prednisolone hemisuccinate Experimental Early Phase 1 2920-86-7
11 Free Radical Scavengers ,Not Applicable
12 Autonomic Agents ,Not Applicable,Early Phase 1
13 Vasodilator Agents ,Not Applicable
14 Bronchodilator Agents ,Not Applicable
15 Peripheral Nervous System Agents ,Not Applicable,Early Phase 1
16 Antioxidants ,Not Applicable
17 Neurotransmitter Agents ,Not Applicable
18 Anti-Asthmatic Agents ,Not Applicable
19 Protective Agents ,Not Applicable,Early Phase 1
20 Endothelium-Dependent Relaxing Factors ,Not Applicable
21 Respiratory System Agents ,Not Applicable
22 Liver Extracts
23 Immunoglobulins
24 Immunologic Factors
25 Antibodies
26 Antibodies, Monoclonal
27 Anti-Allergic Agents Early Phase 1
28 glucocorticoids Early Phase 1
29 Gastrointestinal Agents Early Phase 1
30 Antineoplastic Agents, Hormonal Early Phase 1
31 Anti-Inflammatory Agents Early Phase 1
32 Methylprednisolone Acetate Early Phase 1
33 Hormones, Hormone Substitutes, and Hormone Antagonists Early Phase 1
34 Antiemetics Early Phase 1
35 Dermatologic Agents Early Phase 1
36 Hormone Antagonists Early Phase 1
37 Hormones Early Phase 1
38 Prednisolone acetate Early Phase 1
39 Neuroprotective Agents Early Phase 1

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Azithromycin in Treating Children With Non Cystic Fibrosis Bronchiectasis Unknown status NCT02531984 Phase 3 Azithromycin
2 Clearing Lungs With ENaC Inhibition in Primary Ciliary Dyskinesia Completed 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 Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children Primary Ciliary Dyskinesia Completed NCT03370029
8 Otolith Function in Patients With Primary Ciliary Dyskinesia Completed NCT01246258
9 Inflammatory and Microbiologic Markers in Sputum: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115 Not Applicable
10 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
11 NIOX VERO Nasal Application in Primary Ciliary Dyskinesia Completed NCT02622061
12 Dyskinesia, Heterotaxy and Congenital Heart Disease Completed NCT00608556
13 Rare Genetic Disorders of the Breathing Airways Completed NCT00323167
14 Determination of Normal Values of Nasal Nitric Oxide in Adults Completed NCT02133547
15 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
16 A Prospective Study Measuring Exhaled Nitric Oxide in Exercise-Induced Asthma Completed NCT01097954
17 MRI in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03279965
18 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Recruiting NCT00722878
19 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
20 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
21 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Recruiting NCT00450918
22 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
23 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
24 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
25 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
26 PCD New Gene Discovery Recruiting NCT03801395
27 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207 Not Applicable
28 High Resolution Micro OCT Imaging Recruiting NCT03256773
29 WGS of Korean Idiopathic Bronchiectasis Recruiting NCT03809091
30 Natural History of Bronchiectasis Recruiting NCT00943514
31 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
32 Observational Study of Characteristics, Treatment and Outcomes With Severe Asthma in the United States (CHRONICLE) Recruiting NCT03373045
33 Genetics of Primary Ciliary Dyskinesia Active, not recruiting NCT02389049
34 PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients Active, not recruiting NCT03704896
35 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
36 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Not yet recruiting NCT03832491 Not Applicable
37 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
38 The Efficacy of Nasal Steroids in Treatment of Otitis Media With Effusion: Acomparative Study Not yet recruiting NCT03491098 Early Phase 1 Mometasone Furoate spray;prednisolone sodium phosphate 15mg;hypertonic sea water solution spray
39 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356 Not Applicable
40 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

Sources

Genetic Tests for Kartagener Syndrome

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Genetic tests related to Kartagener Syndrome:

# Genetic test Affiliating Genes
1 Kartagener Syndrome 30
Sources

Anatomical Context for Kartagener Syndrome

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MalaCards organs/tissues related to Kartagener Syndrome:

42
Lung, Heart, Kidney, Cervix, Pancreas
Sources

Publications for Kartagener Syndrome

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Articles related to Kartagener Syndrome:

(show top 50) (show all 86)
# Title Authors Year
1
Retinal pigment epithelium changes in Kartagener syndrome. ( 29511746 )
2018
2
Kartagener syndrome. ( 30351433 )
2018
3
Kartagener syndrome complicated by immunoglobulin A nephropathy. ( 30573994 )
2018
4
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. ( 28638261 )
2017
5
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. ( 29152435 )
2017
6
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. ( 28952366 )
2017
7
Kartagener Syndrome. ( 28402566 )
2017
8
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
9
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
10
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. ( 27988889 )
2016
11
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
12
A case of Kartagener syndrome with rhinolalia clausa. ( 27375831 )
2016
13
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. ( 26976528 )
2016
14
A case report of kartagener syndrome. ( 27728632 )
2016
15
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. ( 26960394 )
2016
16
A case of Kartagener syndrome. ( 27728621 )
2016
17
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. ( 25576715 )
2015
18
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. ( 26284775 )
2015
19
Kartagener syndrome. ( 25633235 )
2015
20
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. ( 27366497 )
2015
21
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. ( 25956262 )
2015
22
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. ( 26250371 )
2015
23
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. ( 26227396 )
2015
24
Kartagener syndrome: a not so rare phenomenon. ( 25672196 )
2014
25
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 24533546 )
2014
26
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. ( 25367485 )
2014
27
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. ( 25178347 )
2014
28
Re: Kartagener syndrome with focal segmental glomerulosclerosis. ( 25001147 )
2014
29
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. ( 25087796 )
2014
30
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. ( 25309609 )
2014
31
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. ( 24718008 )
2014
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
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. ( 25755941 )
2013
35
An unusual regression of the symptoms of Kartagener syndrome. ( 22551925 )
2013
36
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. ( 25207108 )
2013
37
Kartagener syndrome. ( 21372103 )
2012
38
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. ( 23288129 )
2012
39
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. ( 22104985 )
2012
40
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. ( 22595222 )
2012
41
An unusual case of Kartagener syndrome. ( 21497979 )
2012
42
Kartagener syndrome. ( 20562592 )
2011
43
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. ( 21718985 )
2011
44
Bronchiolitis as a feature of kartagener syndrome: a case report. ( 23169026 )
2011
45
Kartagener syndrome. ( 21403791 )
2011
46
Diagnosis: Kartagener syndrome. ( 20697168 )
2010
47
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. ( 20868986 )
2010
48
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. ( 20550487 )
2010
49
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. ( 20796272 )
2010
50
Kartagener syndrome: a rare genetic disorder. ( 19529061 )
2009
Sources

Variations for Kartagener Syndrome

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ClinVar genetic disease variations for Kartagener Syndrome:

6 (show top 50) (show all 162)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNAH8 NM_001206927.1(DNAH8): c.2419C> T (p.Arg807Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs567050969 GRCh38 Chromosome 6, 38786788: 38786788
2 DNAH8 NM_001206927.1(DNAH8): c.2419C> T (p.Arg807Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs567050969 GRCh37 Chromosome 6, 38754564: 38754564
3 DNAI1 NM_012144.3(DNAI1): c.378A> G (p.Glu126=) single nucleotide variant Benign/Likely benign rs3818577 GRCh37 Chromosome 9, 34489437: 34489437
4 DNAI1 NM_012144.3(DNAI1): c.378A> G (p.Glu126=) single nucleotide variant Benign/Likely benign rs3818577 GRCh38 Chromosome 9, 34489439: 34489439
5 DNAI1 NM_012144.3(DNAI1): c.1460T> G (p.Val487Gly) single nucleotide variant Benign/Likely benign rs11999454 GRCh37 Chromosome 9, 34512393: 34512393
6 DNAI1 NM_012144.3(DNAI1): c.1460T> G (p.Val487Gly) single nucleotide variant Benign/Likely benign rs11999454 GRCh38 Chromosome 9, 34512395: 34512395
7 DNAI1 NM_012144.3(DNAI1): c.1003G> A (p.Val335Ile) single nucleotide variant Benign/Likely benign rs11793196 GRCh37 Chromosome 9, 34500821: 34500821
8 DNAI1 NM_012144.3(DNAI1): c.1003G> A (p.Val335Ile) single nucleotide variant Benign/Likely benign rs11793196 GRCh38 Chromosome 9, 34500823: 34500823
9 DNAI1 NM_012144.3(DNAI1): c.1825A> T (p.Ile609Leu) single nucleotide variant Uncertain significance rs727502978 GRCh37 Chromosome 9, 34517289: 34517289
10 DNAI1 NM_012144.3(DNAI1): c.1825A> T (p.Ile609Leu) single nucleotide variant Uncertain significance rs727502978 GRCh38 Chromosome 9, 34517291: 34517291
11 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh37 Chromosome 17, 78063675: 78063676
12 CCDC40 NM_017950.3(CCDC40): c.2824_2825insCTGT (p.Arg942Thrfs) insertion Pathogenic rs587778819 GRCh38 Chromosome 17, 80089876: 80089877
13 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh38 Chromosome 14, 49633936: 49633951
14 DNAAF2 NM_018139.2(DNAAF2): c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs) duplication Pathogenic rs397515341 GRCh37 Chromosome 14, 50100654: 50100669
15 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh37 Chromosome 3, 52387629: 52387629
16 DNAH1 NM_015512.4(DNAH1): c.3460A> C (p.Lys1154Gln) single nucleotide variant Pathogenic rs544674332 GRCh38 Chromosome 3, 52353613: 52353613
17 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh37 Chromosome 5, 13865784: 13865784
18 DNAH5 NM_001369.2(DNAH5): c.4348C> T (p.Gln1450Ter) single nucleotide variant Pathogenic rs771663107 GRCh38 Chromosome 5, 13865675: 13865675
19 MCIDAS NM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs797045152 GRCh37 Chromosome 5, 54516210: 54516210
20 MCIDAS NM_001190787.1(MCIDAS): c.1142G> A (p.Arg381His) single nucleotide variant Pathogenic rs797045152 GRCh38 Chromosome 5, 55220382: 55220382
21 MCIDAS NM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp) single nucleotide variant Pathogenic rs797045151 GRCh37 Chromosome 5, 54516255: 54516255
22 MCIDAS NM_001190787.1(MCIDAS): c.1097G> A (p.Gly366Asp) single nucleotide variant Pathogenic rs797045151 GRCh38 Chromosome 5, 55220427: 55220427
23 MCIDAS NM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs777031813 GRCh37 Chromosome 5, 54518169: 54518169
24 MCIDAS NM_001190787.1(MCIDAS): c.441C> A (p.Cys147Ter) single nucleotide variant Pathogenic rs777031813 GRCh38 Chromosome 5, 55222341: 55222341
25 CCNO NM_021147.4(CCNO): c.716A> G (p.His239Arg) single nucleotide variant Pathogenic rs797045150 GRCh37 Chromosome 5, 54527540: 54527540
26 CCNO NM_021147.4(CCNO): c.716A> G (p.His239Arg) single nucleotide variant Pathogenic rs797045150 GRCh38 Chromosome 5, 55231712: 55231712
27 RSPH4A NM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs) duplication Pathogenic rs797045147 GRCh37 Chromosome 6, 116937952: 116937952
28 RSPH4A NM_001010892.2(RSPH4A): c.166dupC (p.Arg56Profs) duplication Pathogenic rs797045147 GRCh38 Chromosome 6, 116616789: 116616789
29 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 GRCh37 Chromosome 6, 159407455: 159407455
30 RSPH3 NM_031924.5(RSPH3): c.631-2A> G single nucleotide variant Pathogenic rs142800871 GRCh38 Chromosome 6, 158986423: 158986423
31 SPAG1 NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs) deletion Pathogenic rs797045149 GRCh37 Chromosome 8, 101203687: 101203691
32 SPAG1 NM_172218.2(SPAG1): c.902_906delAAGTA (p.Lys301Thrfs) deletion Pathogenic rs797045149 GRCh38 Chromosome 8, 100191459: 100191463
33 LRRC6 NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs) deletion Pathogenic rs760123202 GRCh37 Chromosome 8, 133645009: 133645009
34 LRRC6 NM_012472.5(LRRC6): c.630delG (p.Trp210Cysfs) deletion Pathogenic rs760123202 GRCh38 Chromosome 8, 132632763: 132632763
35 ARMC4 NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter) single nucleotide variant Pathogenic rs145742175 GRCh37 Chromosome 10, 28233225: 28233225
36 ARMC4 NM_018076.4(ARMC4): c.1669G> T (p.Glu557Ter) single nucleotide variant Pathogenic rs145742175 GRCh38 Chromosome 10, 27944296: 27944296
37 DNAAF2 NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs) deletion Pathogenic rs797045146 GRCh38 Chromosome 14, 49635119: 49635119
38 DNAAF2 NM_018139.2(DNAAF2): c.31delG (p.Glu11Argfs) deletion Pathogenic rs797045146 GRCh37 Chromosome 14, 50101837: 50101837
39 CFAP298 NM_021254.3(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 GRCh38 Chromosome 21, 32602299: 32602299
40 CFAP298 NM_021254.3(CFAP298): c.735C> G (p.Tyr245Ter) single nucleotide variant Pathogenic rs202094637 GRCh37 Chromosome 21, 33974609: 33974609
41 RSPH1 NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22) single nucleotide variant Likely pathogenic rs200382776 GRCh37 Chromosome 21, 43897396: 43897396
42 RSPH1 NM_080860.3(RSPH1): c.727+5G> A (p.Ala244ValfsTer22) single nucleotide variant Likely pathogenic rs200382776 GRCh38 Chromosome 21, 42477286: 42477286
43 RSPH1 NM_080860.3(RSPH1): c.366G> A (p.Arg122=) single nucleotide variant Pathogenic rs797045148 GRCh37 Chromosome 21, 43905914: 43905914
44 RSPH1 NM_080860.3(RSPH1): c.366G> A (p.Arg122=) single nucleotide variant Pathogenic rs797045148 GRCh38 Chromosome 21, 42485804: 42485804
45 DNAI1 NM_012144.3(DNAI1): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs140820295 GRCh37 Chromosome 9, 34517412: 34517412
46 DNAI1 NM_012144.3(DNAI1): c.1948C> T (p.Arg650Cys) single nucleotide variant Uncertain significance rs140820295 GRCh38 Chromosome 9, 34517414: 34517414
47 DNAI1 NM_012144.3(DNAI1): c.862C> T (p.Arg288Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202213517 GRCh37 Chromosome 9, 34497158: 34497158
48 DNAI1 NM_012144.3(DNAI1): c.862C> T (p.Arg288Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs202213517 GRCh38 Chromosome 9, 34497160: 34497160
49 DNAAF1 NM_178452.5(DNAAF1): c.1349dup (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh37 Chromosome 16, 84203783: 84203783
50 DNAAF1 NM_178452.5(DNAAF1): c.1349dup (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh38 Chromosome 16, 84170177: 84170177

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
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Expression for Kartagener Syndrome

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Search GEO for disease gene expression data for Kartagener Syndrome.
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Pathways for Kartagener Syndrome

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GO Terms for Kartagener Syndrome

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cilium GO:0005929 9.86 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 CFAP298
2 microtubule GO:0005874 9.8 DNAH1 DNAH5 DNAI1 DNAI2
3 motile cilium GO:0031514 9.8 CCDC103 CCDC40 DNAH1 DRC1 LRRC6 RSPH4A
4 dynein complex GO:0030286 9.73 DNAH1 DNAH5 DNAI1 DNAI2
5 outer dynein arm GO:0036157 9.67 CCDC114 DNAH5 DNAI1 DNAI2
6 axonemal dynein complex GO:0005858 9.63 DNAH1 DNAH5 DNAI2
7 9+2 motile cilium GO:0097729 9.48 DNAH5 RSPH9
8 axoneme GO:0005930 9.4 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
9 cytoplasm GO:0005737 10.36 ARMC4 CCDC103 CCDC151 CCDC40 CFAP298 DNAAF1
10 cytoskeleton GO:0005856 10.1 ARMC4 CCDC151 CFAP298 DNAAF1 DNAH1 DNAH5
11 cell projection GO:0042995 10.06 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 CFAP298

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell projection organization GO:0030030 9.93 ARMC4 CCDC103 CCDC151 DNAAF3 DNAI1 DNAI2
2 cilium assembly GO:0060271 9.92 CFAP298 DNAAF1 DNAH5 DNAI2 LRRC6
3 microtubule-based movement GO:0007018 9.85 DNAH1 DNAH5 DNAI1 DNAI2
4 determination of left/right symmetry GO:0007368 9.85 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
5 flagellated sperm motility GO:0030317 9.83 CCDC40 DNAH1 DNAH5 DNAI1 LRRC6
6 motile cilium assembly GO:0044458 9.8 CCDC40 DNAAF1 DNAAF3 LRRC6 RSPH9 ZMYND10
7 heart development GO:0007507 9.77 DNAH5 DNAI1 DRC1
8 heart looping GO:0001947 9.77 CCDC103 CCDC40 DNAAF1
9 axoneme assembly GO:0035082 9.73 CCDC40 RSPH4A RSPH9
10 inner dynein arm assembly GO:0036159 9.73 CCDC103 CCDC40 DNAAF1 DNAH1 LRRC6 ZMYND10
11 cilium-dependent cell motility GO:0060285 9.71 DNAAF2 DNAH1 DRC1
12 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.71 CCDC103 CCDC40 DNAAF1 LRRC6
13 epithelial cilium movement GO:0003351 9.69 CCDC40 DNAH1 DNAI1
14 determination of digestive tract left/right asymmetry GO:0071907 9.67 CCDC103 CCDC40 DNAAF1
15 regulation of cilium beat frequency GO:0003356 9.65 ARMC4 CCDC40 DNAAF1
16 outer dynein arm assembly GO:0036158 9.65 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
17 cilium movement involved in cell motility GO:0060294 9.61 DNAH1 RSPH9
18 determination of liver left/right asymmetry GO:0071910 9.58 CCDC40 DNAAF1
19 determination of pancreatic left/right asymmetry GO:0035469 9.58 CCDC40 DNAAF1
20 regulation of cilium movement GO:0003352 9.57 CFAP298 DRC1
21 ventricular system development GO:0021591 9.31 HYDIN
22 axonemal dynein complex assembly GO:0070286 9.23 CCDC103 CCDC151 CCDC40 DNAAF1 DNAAF2 DNAAF3
23 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 intermediate chain binding GO:0045505 9.43 DNAH1 DNAH5
2 dynein light intermediate chain binding GO:0051959 9.4 DNAH1 DNAH5
3 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.37 DNAI1 DNAI2
4 microtubule motor activity GO:0003777 9.33 DNAH1 DNAH5 DNAI2
5 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH1 DNAH5
6 dynein heavy chain binding GO:0045504 9.26 DNAI1 DNAI2
7 motor activity GO:0003774 9.26 DNAH1 DNAH5 DNAI1 DNAI2
8 dynein light chain binding GO:0045503 8.92 DNAH1 DNAH5 DNAI1 DNAI2
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Sources for Kartagener Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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