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MCID: KRT010
MIFTS: 46

Kartagener Syndrome

Categories: Rare diseases, Genetic diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Kartagener Syndrome

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MalaCards integrated aliases for Kartagener Syndrome:

Name: Kartagener Syndrome 38 12 76 53 29 55 6 44 15 73
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 53
Primary Ciliary Dyskinesia and Situs Inversus 53
Primary Ciliary Dyskinesia, Kartagener Type 53
Dextrocardia Bronchiectasis and Sinusitis 53
Immotile Cilia Syndrome, Kartagener Type 53
Kartagener's Syndrome 12
Siewert Syndrome 53

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:0050144
MeSH 44 D007619
NCIt 50 C84797
SNOMED-CT 68 42402006 86204009
UMLS 73 C0022521
Sources

Summaries for Kartagener Syndrome

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NIH Rare Diseases : 53 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 primary ciliary dyskinesia and situs inversus, 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 : 76 Primary ciliary dyskinesia (PCD), also called immotile ciliary syndrome or Kartagener syndrome, is a... more...

Sources

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 67)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 31.1 ARMC4 CCDC114 CCDC40 CFAP298 DNAAF1 DNAAF2
2 situs inversus 29.8 ARMC4 CCDC40 DNAAF1 DNAH5 DNAI1 DNAI2
3 ciliary dyskinesia, primary, 1 29.8 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 CFAP298
4 bronchiectasis 11.4
5 dextrocardia with situs inversus 11.1
6 ciliary dyskinesia, primary, 36, x-linked 10.8
7 ciliary dyskinesia, primary, 2 10.8
8 ciliary dyskinesia, primary, 3 10.8
9 ciliary dyskinesia, primary, 5 10.8
10 ciliary dyskinesia, primary, 6 10.8
11 ciliary dyskinesia, primary, 7 10.8
12 ciliary dyskinesia, primary, 9 10.8
13 ciliary dyskinesia, primary, 10 10.8
14 ciliary dyskinesia, primary, 11 10.8
15 ciliary dyskinesia, primary, 12 10.8
16 ciliary dyskinesia, primary, 13 10.8
17 ciliary dyskinesia, primary, 14 10.8
18 ciliary dyskinesia, primary, 15 10.8
19 ciliary dyskinesia, primary, 16 10.8
20 ciliary dyskinesia, primary, 17 10.8
21 ciliary dyskinesia, primary, 18 10.8
22 ciliary dyskinesia, primary, 19 10.8
23 ciliary dyskinesia, primary, 20 10.8
24 ciliary dyskinesia, primary, 21 10.8
25 ciliary dyskinesia, primary, 22 10.8
26 ciliary dyskinesia, primary, 23 10.8
27 ciliary dyskinesia, primary, 25 10.8
28 ciliary dyskinesia, primary, 26 10.8
29 ciliary dyskinesia, primary, 27 10.8
30 ciliary dyskinesia, primary, 28 10.8
31 ciliary dyskinesia, primary, 30 10.8
32 ciliary dyskinesia, primary, 35 10.8
33 ciliary dyskinesia, primary, 37 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 renal cell carcinoma, nonpapillary 9.7
44 pulmonary hypertension, primary, 1 9.7
45 cystic fibrosis 9.7
46 heterotaxy, visceral, 5, autosomal 9.7
47 myocardial infarction 9.7
48 aspergillosis 9.7
49 sinusitis 9.7
50 scoliosis 9.7

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 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 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azithromycin Approved Phase 3 83905-01-5 55185 447043
2 Pharmaceutical Solutions Phase 2
3
Nitric Oxide Approved ,Not Applicable 10102-43-9 145068 160954
4
Menthol Approved Not Applicable 2216-51-5 16666
5 Anti-Asthmatic Agents ,Not Applicable
6 Antioxidants ,Not Applicable
7 Autonomic Agents ,Not Applicable
8 Bronchodilator Agents ,Not Applicable
9 Endothelium-Dependent Relaxing Factors ,Not Applicable
10 Neurotransmitter Agents ,Not Applicable
11 Peripheral Nervous System Agents ,Not Applicable
12 Protective Agents ,Not Applicable
13 Respiratory System Agents ,Not Applicable
14 Vasodilator Agents ,Not Applicable
15 Albuterol
16 Liver Extracts
17 Antibodies
18 Antibodies, Monoclonal
19 Immunoglobulins

Interventional clinical trials:

(show all 35)
# 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 Active, not 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 Not Applicable
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 Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
20 International Prospective Patient Registry for Primary Ciliary Dyskinesia (PCD) Recruiting NCT02419365
21 Pathogenesis of Primary Ciliary Dyskinesia (PCD) Lung Disease Recruiting NCT00807482
22 Registry for Primary Ciliary Dyskinesia Recruiting NCT03271840
23 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
24 High Resolution Micro OCT Imaging Recruiting NCT03256773
25 Natural History of Bronchiectasis Recruiting NCT00943514
26 Multiple Breath Washout, a Clinimetric Dataset Recruiting NCT03320382
27 Observational Study of Characteristics, Treatment and Outcomes With Severe Asthma in the United States (CHRONICLE) Recruiting NCT03373045
28 Long-term Lung Function and Disease Progression in Children With Early Onset Primary Ciliary Dyskinesia Lung Disease Active, not recruiting NCT00722878
29 Evaluating Progression of and Diagnostic Tools for Primary Ciliary Dyskinesia in Children and Adolescents Active, not recruiting NCT00450918
30 Rare Genetic Disorders of the Breathing Airways Active, not recruiting NCT00323167
31 Registry Study on Primary Ciliary Dyskinesia in Chinese Children Not yet recruiting NCT02704455
32 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Not yet recruiting NCT02699177
33 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
34 Chest Physiotherapy and Lung Function in Primary Ciliary Dyskinesia Withdrawn NCT01929356 Not Applicable
35 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 29 DNAI1
Sources

Anatomical Context for Kartagener Syndrome

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MalaCards organs/tissues related to Kartagener Syndrome:

41
Lung, Heart, Liver, Cervix, Pancreas, Kidney
Sources

Publications for Kartagener Syndrome

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Articles related to Kartagener Syndrome:

(show top 50) (show all 83)
# Title Authors Year
1
Retinal pigment epithelium changes in Kartagener syndrome. ( 29511746 )
2018
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
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. ( 28952366 )
2017
5
Kartagener Syndrome. ( 28402566 )
2017
6
Ciliary Dysfunction (Kartagener Syndrome, Primary Ciliary Dyskinesia) ( 28846277 )
2017
7
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. ( 28992906 )
2017
8
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. ( 27988889 )
2016
9
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. ( 27746084 )
2016
10
A case of Kartagener syndrome with rhinolalia clausa. ( 27375831 )
2016
11
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. ( 26976528 )
2016
12
A case report of kartagener syndrome. ( 27728632 )
2016
13
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. ( 26960394 )
2016
14
A case of Kartagener syndrome. ( 27728621 )
2016
15
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. ( 25576715 )
2015
16
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. ( 26284775 )
2015
17
Kartagener syndrome. ( 25633235 )
2015
18
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. ( 27366497 )
2015
19
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. ( 25956262 )
2015
20
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. ( 26250371 )
2015
21
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. ( 26227396 )
2015
22
Kartagener syndrome: a not so rare phenomenon. ( 25672196 )
2014
23
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 24533546 )
2014
24
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. ( 25367485 )
2014
25
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. ( 25178347 )
2014
26
Re: Kartagener syndrome with focal segmental glomerulosclerosis. ( 25001147 )
2014
27
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. ( 25087796 )
2014
28
Mycobacterium abscessus Lung Disease in a Patient with Kartagener Syndrome. ( 25309609 )
2014
29
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. ( 24718008 )
2014
30
Kartagener syndrome with focal segmental glomerulosclerosis. ( 24241099 )
2013
31
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. ( 23563507 )
2013
32
Right bochdalek hernia associated with kartagener syndrome: developmental and clinical observations. ( 25755941 )
2013
33
An unusual regression of the symptoms of Kartagener syndrome. ( 22551925 )
2013
34
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. ( 25207108 )
2013
35
Kartagener syndrome. ( 21372103 )
2012
36
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. ( 23288129 )
2012
37
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. ( 22104985 )
2012
38
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. ( 22595222 )
2012
39
An unusual case of Kartagener syndrome. ( 21497979 )
2012
40
Kartagener syndrome. ( 20562592 )
2011
41
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. ( 21718985 )
2011
42
Bronchiolitis as a feature of kartagener syndrome: a case report. ( 23169026 )
2011
43
Kartagener syndrome. ( 21403791 )
2011
44
Diagnosis: Kartagener syndrome. ( 20697168 )
2010
45
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. ( 20868986 )
2010
46
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. ( 20550487 )
2010
47
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. ( 20796272 )
2010
48
Kartagener syndrome: a rare genetic disorder. ( 19529061 )
2009
49
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. ( 19606528 )
2009
50
Kartagener syndrome in a Nigerian African--a case report and literature review. ( 20120152 )
2009
Sources

Variations for Kartagener Syndrome

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ClinVar genetic disease variations for Kartagener Syndrome:

6
(show top 50) (show all 132)
# 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.1349dupC (p.Pro451Alafs) duplication Pathogenic rs397515339 GRCh38 Chromosome 16, 84170177: 84170177
3 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh37 Chromosome 16, 84188353: 84188353
4 DNAAF1 NM_178452.5(DNAAF1): c.524T> G (p.Leu175Arg) single nucleotide variant Pathogenic rs267607227 GRCh38 Chromosome 16, 84154748: 84154748
5 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh37 Chromosome 14, 50101845: 50101845
6 DNAAF2 NM_018139.2(DNAAF2): c.23C> A (p.Ser8Ter) single nucleotide variant Pathogenic rs137853191 GRCh38 Chromosome 14, 49635127: 49635127
7 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh37 Chromosome 17, 72283113: 72283113
8 DNAI2 NM_023036.4(DNAI2): c.346-3T> G (p.Ile116GlyfsTer54) single nucleotide variant Pathogenic rs397515358 GRCh38 Chromosome 17, 74286974: 74286974
9 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh37 Chromosome 9, 34459053: 34459053
10 DNAI1 NM_012144.3(DNAI1): c.48+2dupT (p.Ser17ValfsTer12) duplication Pathogenic rs397515363 GRCh38 Chromosome 9, 34459055: 34459055
11 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh38 Chromosome 9, 34489343: 34489344
12 DNAI1 NM_012144.3(DNAI1): c.282_283insAATA (p.Gly95Asnfs) insertion Pathogenic rs606231164 GRCh37 Chromosome 9, 34489341: 34489342
13 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Likely pathogenic rs79833450 GRCh37 Chromosome 9, 34513163: 34513163
14 DNAI1 NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser) single nucleotide variant Likely pathogenic rs79833450 GRCh38 Chromosome 9, 34513165: 34513165
15 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh38 Chromosome 9, 34514482: 34514493
16 DNAI1 NM_012144.3(DNAI1): c.1658_1669delCCAAGGTCTTCA (p.Thr553_Phe556del) deletion Pathogenic rs606231165 GRCh37 Chromosome 9, 34514480: 34514491
17 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh37 Chromosome 14, 74156135: 74156135
18 DNAL1 NM_031427.3(DNAL1): c.449A> G (p.Asn150Ser) single nucleotide variant Pathogenic rs387907021 GRCh38 Chromosome 14, 73689432: 73689432
19 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh37 Chromosome 19, 55677272: 55677272
20 DNAAF3 NM_001256714.1(DNAAF3): c.386T> C (p.Leu129Pro) single nucleotide variant Pathogenic rs387907151 GRCh38 Chromosome 19, 55165904: 55165904
21 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh37 Chromosome 19, 55676795: 55676795
22 DNAAF3 NM_001256714.1(DNAAF3): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907152 GRCh38 Chromosome 19, 55165427: 55165427
23 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh37 Chromosome 19, 55673053: 55673053
24 DNAAF3 NM_001256714.1(DNAAF3): c.825dupT (p.Val276Cysfs) duplication Pathogenic rs397515395 GRCh38 Chromosome 19, 55161685: 55161685
25 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh37 Chromosome 17, 42979839: 42979839
26 CCDC103 NM_213607.2(CCDC103): c.383dupG (p.Pro129Serfs) duplication Pathogenic rs587776910 GRCh38 Chromosome 17, 44902471: 44902471
27 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh37 Chromosome 17, 42979917: 42979917
28 CCDC103 NM_213607.2(CCDC103): c.461A> C (p.His154Pro) single nucleotide variant Pathogenic rs145457535 GRCh38 Chromosome 17, 44902549: 44902549
29 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh37 Chromosome 19, 48807210: 48807210
30 CCDC114 NM_144577.3(CCDC114): c.742G> A (p.Ala248Thr) single nucleotide variant Pathogenic rs147718607 GRCh38 Chromosome 19, 48303953: 48303953
31 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh37 Chromosome 16, 71022036: 71022036
32 HYDIN NM_001270974.2(HYDIN): c.3985G> T (p.Val1329Leu) single nucleotide variant Pathogenic rs397515413 GRCh38 Chromosome 16, 70988133: 70988133
33 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh37 Chromosome 16, 71171175: 71171175
34 HYDIN NM_001270974.2(HYDIN): c.922A> T (p.Lys308Ter) single nucleotide variant Pathogenic rs397515414 GRCh38 Chromosome 16, 71137272: 71137272
35 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh37 Chromosome 2, 26677651: 26677651
36 DRC1 NM_145038.4(DRC1): c.2056A> T (p.Lys686Ter) single nucleotide variant Pathogenic rs587776997 GRCh38 Chromosome 2, 26454783: 26454783
37 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh37 Chromosome 2, 26644264: 26644264
38 DRC1 NM_145038.4(DRC1): c.352C> T (p.Gln118Ter) single nucleotide variant Pathogenic/Likely pathogenic rs142371860 GRCh38 Chromosome 2, 26421396: 26421396
39 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh37 Chromosome 9, 34513110: 34513110
40 DNAI1 NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp) single nucleotide variant Pathogenic rs376252276 GRCh38 Chromosome 9, 34513112: 34513112
41 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh37 Chromosome 9, 34517466: 34517466
42 DNAI1 NM_012144.3(DNAI1): c.2001+1G> A (p.Ala607_Lys667del) single nucleotide variant Pathogenic rs397515563 GRCh38 Chromosome 9, 34517468: 34517468
43 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh37 Chromosome 17, 72306303: 72306303
44 DNAI2 NM_023036.4(DNAI2): c.1494+1G> C (p.Val450_Ser498del) single nucleotide variant Pathogenic rs397515565 GRCh38 Chromosome 17, 74310164: 74310164
45 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh37 Chromosome 3, 50382964: 50382964
46 ZMYND10 NM_015896.3(ZMYND10): c.47T> G (p.Val16Gly) single nucleotide variant Pathogenic rs138815960 GRCh38 Chromosome 3, 50345533: 50345533
47 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh37 Chromosome 3, 50379904: 50379904
48 ZMYND10 NM_015896.3(ZMYND10): c.797T> C (p.Leu266Pro) single nucleotide variant Likely pathogenic rs200913791 GRCh38 Chromosome 3, 50342473: 50342473
49 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh37 Chromosome 10, 28151382: 28151382
50 ARMC4 NM_018076.4(ARMC4): c.2780T> G (p.Leu927Trp) single nucleotide variant Pathogenic rs587777047 GRCh38 Chromosome 10, 27862453: 27862453

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
Sources

Expression for Kartagener Syndrome

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

Pathways for Kartagener Syndrome

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Sources

GO Terms for Kartagener Syndrome

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

# 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 CFAP298
3 dynein complex GO:0030286 9.77 DNAH1 DNAH5 DNAI1 DNAI2 DNAL1
4 outer dynein arm GO:0036157 9.65 CCDC114 DNAH5 DNAI1 DNAI2 DNAL1
5 sperm flagellum GO:0036126 9.48 DNAH1 DNAI2
6 axonemal dynein complex GO:0005858 9.46 DNAH1 DNAI2
7 axoneme GO:0005930 9.36 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
8 cytoplasm GO:0005737 10.33 ARMC4 CCDC103 CCDC151 CCDC40 CFAP298 DNAAF1
9 cytoskeleton GO:0005856 10.1 ARMC4 CCDC151 CFAP298 DNAAF1 DNAH1 DNAH5
10 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 21)
# Name GO ID Score Top Affiliating Genes
1 cilium movement GO:0003341 9.97 ARMC4 CCDC103 CCDC114 CCDC151 CCDC40 DNAAF1
2 cell projection organization GO:0030030 9.93 ARMC4 CCDC103 CCDC151 DNAAF3 DNAI1 DNAI2
3 cilium assembly GO:0060271 9.88 CFAP298 DNAAF1 DNAH5 DNAI2
4 microtubule-based movement GO:0007018 9.85 DNAH1 DNAH5 DNAI1 DNAI2
5 determination of left/right symmetry GO:0007368 9.85 ARMC4 CCDC151 DNAH5 DNAI1 DNAI2 DRC1
6 flagellated sperm motility GO:0030317 9.83 CCDC40 DNAH1 DNAH5 DNAI1 LRRC6
7 heart looping GO:0001947 9.75 CCDC103 CCDC40 DNAAF1
8 inner dynein arm assembly GO:0036159 9.73 CCDC103 CCDC40 DNAAF1 DNAH1 LRRC6 ZMYND10
9 motile cilium assembly GO:0044458 9.72 CCDC40 DNAAF1 DNAAF3 LRRC6 ZMYND10
10 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.71 CCDC103 CCDC40 DNAAF1 LRRC6
11 cilium-dependent cell motility GO:0060285 9.7 DNAAF2 DNAH1 DRC1
12 outer dynein arm assembly GO:0036158 9.7 ARMC4 CCDC103 CCDC114 CCDC151 DNAAF1 DNAH5
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 axoneme assembly GO:0035082 9.6 CCDC40 RSPH4A
17 ventricular system development GO:0021591 9.59 ARMC4 HYDIN
18 determination of liver left/right asymmetry GO:0071910 9.57 CCDC40 DNAAF1
19 determination of pancreatic left/right asymmetry GO:0035469 9.56 CCDC40 DNAAF1
20 regulation of cilium movement GO:0003352 9.54 CFAP298 DRC1
21 axonemal dynein complex assembly GO:0070286 9.23 CCDC103 CCDC151 CCDC40 DNAAF1 DNAAF2 DNAAF3

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

# Name GO ID Score Top Affiliating Genes
1 microtubule motor activity GO:0003777 9.5 DNAH1 DNAH5 DNAI2
2 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.43 DNAI1 DNAI2
3 dynein light intermediate chain binding GO:0051959 9.4 DNAH1 DNAH5
4 dynein intermediate chain binding GO:0045505 9.37 DNAH1 DNAH5
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 9.26 DNAH1 DNAH5
8 dynein light chain binding GO:0045503 8.92 DNAH1 DNAH5 DNAI1 DNAI2
Sources

Sources for Kartagener Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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