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MCID: KRT010
MIFTS: 50

Kartagener Syndrome

Categories: Ear diseases, Genetic 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 12 74 52 29 54 6 43 15 17 71
Dextrocardia-Bronchiectasis-Sinusitis Syndrome 52
Primary Ciliary Dyskinesia and Situs Inversus 52
Primary Ciliary Dyskinesia, Kartagener Type 52
Dextrocardia Bronchiectasis and Sinusitis 52
Immotile Cilia Syndrome, Kartagener Type 52
Kartagener's Syndrome 12
Siewert Syndrome 52

Classifications:

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


External Ids:

Disease Ontology 12 DOID:0050144
MeSH 43 D007619
SNOMED-CT 67 42402006
UMLS 71 C0022521
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Summaries for Kartagener Syndrome

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NIH Rare Diseases : 52 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 ciliary dyskinesia, primary, 1, and has symptoms including headache An important gene associated with Kartagener Syndrome is DNAI1 (Dynein Axonemal Intermediate Chain 1). The drugs Ivacaftor and Nitric Oxide have been mentioned in the context of this disorder. Affiliated tissues include lung, heart and kidney, and related phenotypes are cellular and cardiovascular 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 : 74 Primary ciliary dyskinesia (PCD), is a rare, ciliopathic, autosomal recessive genetic disorder that... 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 184)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 34.4 ZMYND10 SPAG1 RSPH9 RSPH4A LRRC6 HYDIN
2 ciliary dyskinesia, primary, 1 33.7 ZMYND10 SPAG1 RSPH9 RSPH4A LRRC6 HYDIN
3 bronchiectasis 33.7 RSPH9 RSPH4A HYDIN DRC1 DNAI2 DNAI1
4 ciliary dyskinesia, primary, 9 32.7 RSPH9 RSPH4A HYDIN DNAI2 DNAAF2
5 ciliary dyskinesia, primary, 6 32.7 RSPH9 RSPH4A DNAI2 DNAAF2
6 ciliary dyskinesia, primary, 10 32.7 RSPH9 RSPH4A DNAI2 DNAAF2
7 ciliary dyskinesia, primary, 7 32.4 DNAH5 DNAH1
8 situs inversus 32.4 RSPH9 RSPH4A LRRC6 HYDIN DRC1 DNAI2
9 ciliary dyskinesia, primary, 3 32.3 DNAH5 DNAH1
10 dextrocardia 31.8 DNAI1 DNAH5 CCDC40 CCDC103 ARMC4
11 ciliary dyskinesia, primary, 8 31.3 DRC1 DNAI1 DNAH5 CCDC40 CCDC151 CCDC114
12 visceral heterotaxy 31.3 ZMYND10 SPAG1 RSPH9 RSPH4A LRRC6 HYDIN
13 dextro-looped transposition of the great arteries 30.8 DNAI1 DNAH5 ARMC4
14 dextrocardia with situs inversus 11.5
15 ciliary dyskinesia, primary, 40 11.3
16 ciliary dyskinesia, primary, 36, x-linked 11.1
17 ciliary dyskinesia, primary, 2 11.1
18 ciliary dyskinesia, primary, 5 11.1
19 ciliary dyskinesia, primary, 11 11.1
20 ciliary dyskinesia, primary, 12 11.1
21 ciliary dyskinesia, primary, 13 11.1
22 ciliary dyskinesia, primary, 14 11.1
23 ciliary dyskinesia, primary, 15 11.1
24 ciliary dyskinesia, primary, 16 11.1
25 ciliary dyskinesia, primary, 17 11.1
26 ciliary dyskinesia, primary, 18 11.1
27 ciliary dyskinesia, primary, 19 11.1
28 ciliary dyskinesia, primary, 20 11.1
29 ciliary dyskinesia, primary, 21 11.1
30 ciliary dyskinesia, primary, 22 11.1
31 ciliary dyskinesia, primary, 23 11.1
32 ciliary dyskinesia, primary, 25 11.1
33 ciliary dyskinesia, primary, 26 11.1
34 ciliary dyskinesia, primary, 27 11.1
35 ciliary dyskinesia, primary, 28 11.1
36 ciliary dyskinesia, primary, 30 11.1
37 ciliary dyskinesia, primary, 35 11.1
38 ciliary dyskinesia, primary, 37 11.1
39 ciliary dyskinesia, primary, 38 11.1
40 ciliary dyskinesia, primary, 39 11.1
41 ciliary dyskinesia, primary, 4 10.8 DRC1 DNAI1 DNAH5 CCDC40 CCDC151 CCDC114
42 paranasal sinus disease 10.8 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAAF2
43 middle ear disease 10.7 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5
44 osteogenesis imperfecta, type xi 10.7 DNAI2 DNAI1 CCDC114 ARMC4
45 pulmonary subvalvular stenosis 10.6 DNAI2 DNAAF3
46 chromosome 17q12 duplication syndrome 10.6 RSPH4A CCDC103
47 acute retrobulbar neuritis 10.6 DNAI2 DNAI1
48 osteogenesis imperfecta, type xiv 10.5 DNAH5 CCDC151
49 autosomal recessive disease 10.3
50 bronchitis 10.3

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



Diseases related to Kartagener Syndrome
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Symptoms & Phenotypes for Kartagener Syndrome

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UMLS symptoms related to Kartagener Syndrome:


headache

MGI Mouse Phenotypes related to Kartagener Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.14 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
2 cardiovascular system MP:0005385 10.13 ARMC4 CCDC114 CCDC151 DNAAF2 DNAAF3 DNAH5
3 growth/size/body region MP:0005378 10.1 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
4 mortality/aging MP:0010768 10.03 ARMC4 CCDC114 CCDC151 CCDC40 DNAAF1 DNAAF2
5 craniofacial MP:0005382 9.91 CCDC151 DNAAF1 DNAH5 DNAI1 DRC1 HYDIN
6 nervous system MP:0003631 9.85 ARMC4 CCDC151 CCDC40 DNAAF1 DNAAF2 DNAH5
7 respiratory system MP:0005388 9.77 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH1
8 skeleton MP:0005390 9.23 CCDC151 DNAAF1 DNAAF3 DNAH5 DNAI1 DRC1
Sources

Drugs & Therapeutics for Kartagener Syndrome

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ivacaftor Approved Phase 2 873054-44-5 16220172
2
Nitric Oxide Approved 10102-43-9 145068
3
Methylprednisolone hemisuccinate Approved Early Phase 1 2921-57-5
4
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
5 Prednisolone acetate Approved, Vet_approved Early Phase 1 52-21-1
6
Prednisolone phosphate Approved, Vet_approved Early Phase 1 302-25-0
7
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
8
mometasone furoate Approved, Investigational, Vet_approved Early Phase 1 83919-23-7
9
Prednisolone hemisuccinate Experimental Early Phase 1 2920-86-7
10 Liver Extracts
11 Anti-Asthmatic Agents
12 Respiratory System Agents
13 Neurotransmitter Agents
14 Free Radical Scavengers
15 Antioxidants
16 Vasodilator Agents
17 Bronchodilator Agents
18 Pharmaceutical Solutions Early Phase 1
19 Autonomic Agents Early Phase 1
20 Protective Agents Early Phase 1
21 Gastrointestinal Agents Early Phase 1
22 Antiemetics Early Phase 1
23 Methylprednisolone Acetate Early Phase 1
24 Hormone Antagonists Early Phase 1
25 Anti-Inflammatory Agents Early Phase 1
26 Dermatologic Agents Early Phase 1
27 Antineoplastic Agents, Hormonal Early Phase 1
28 Neuroprotective Agents Early Phase 1
29 glucocorticoids Early Phase 1
30 Hormones Early Phase 1
31 Anti-Allergic Agents Early Phase 1

Interventional clinical trials:

(show all 36)
# Name Status NCT ID Phase Drugs
1 A Phase 2a, 2-part,Randomized, Double-blind, Placebo-controlled, Incomplete Block Crossover Study to Evaluate the Safety and Efficacy of VX-371 Solution for Inhalation With and Without Oral Ivacaftor in Subjects With Primary Ciliary Dyskinesia Completed NCT02871778 Phase 2 VX-371;Hypertonic Saline;Placebo (0.17% saline);Ivacaftor
2 Comparison of On-line and Off-line Measurements of Exhaled NO Unknown status NCT00686309
3 Screening for Primary Ciliary Dyskinesia Using Nasal Nitric Oxide Unknown status NCT00739817
4 A Pilot Study to Assess the Use of MRI in the Assessment of Patients With Cystic Fibrosis and Primary Ciliary Dyskinesia Unknown status NCT03279965
5 The Israeli National Consortium for Early Detection and Characterization of Primary Ciliary Dyskinesia Unknown status NCT01070914
6 In Vivo Measurements of Nasal Ciliary Beat Frequency by Using Interferometry Unknown status NCT02699177
7 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Completed NCT02389049
8 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
9 Molecular Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
10 Genetic Study of Patients With Primary Ciliary Dyskinesia Completed NCT00005650
11 Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age Completed NCT00722878
12 Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age Completed NCT00450918
13 A Clinical Investigation Determining the Discriminative Ability of the NIOX VERO NASAL to Differentiate Subjects With Primary Ciliary Dyskinesia From Healthy Controls Completed NCT02622061
14 Inflammatory and Microbiologic Markers in Sputum in Response to Pulmonary Exacerbation: Comparing Cystic Fibrosis With Primary Ciliary Dyskinesia Completed NCT01155115
15 Otolith Function in Patients With Primary Ciliary Dyskinesia: a Pilot Study Completed NCT01246258
16 Comparison of Respiratory Muscle Strength, Exercise Capacity and Physical Activity Levels in Children With Primary Ciliary Dyskinesia and Healthy Controls Completed NCT03370029
17 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
18 Determination of Normal Values of Nasal Nitric Oxide Measured With the NIOX MINO Analyzer in Adults: a Pilot Study Completed NCT02133547
19 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
20 Bacteriological Link Between Upper and Lower Airways in Cystic Fibrosis and Primary Ciliary Dyskinesia Recruiting NCT03494894
21 Utility of PCD Diagnostics to Improve Clinical Care Recruiting NCT03704207
22 Imaging of Human Epithelial Airway Using a High Resolution Micro OCT Catheter (Functional Anatomic Imaging of CF Patients With Early Lung Disease Using Micro OCT) Recruiting NCT03256773
23 Whole Genome Sequencing of Korean Patients With Idiopathic Bronchiectasis for Identification of Disease-Causing Variants Recruiting NCT03809091
24 Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways Recruiting NCT00807482
25 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Recruiting NCT03832491
26 Registry for Primary Ciliary Dyskinesia: : Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT03271840
27 Multiple Breath Washout in Paediatric Chronic Airways Disease: Building a Clinimetrics Dataset Recruiting NCT03320382
28 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
29 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
30 Primary Ciliary Dyskinesia New Gene Discovery to Improve Diagnostics and Clinical Care Recruiting NCT03801395
31 International Prospective Primary Ciliary Dyskinesia (PCD) Registry for Systematic Data Collection on Incidence, Clinical Presentation, Treatment and Course of the Disease Recruiting NCT02419365
32 PRospective Observational Multicentre Study on VAriability of Lung Function in Stable PCD Patients Active, not recruiting NCT03704896
33 Registry Study on Primary Ciliary Dyskinesia in Chinese children-a Multicenter, Prospective Cohort Study Not yet recruiting NCT02704455
34 Comparison of Respiratory Function, Exercise Capacity and Peripheral Muscle Strength Among Patients With Cystic Fibrosis, Primary Ciliary Dyskinesia and Healthy Children Not yet recruiting NCT04161313
35 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
36 The Influence of Chest Physiotherapy on Lung Function Parameters in Primary Ciliary Dyskinesia Withdrawn NCT01929356

Search NIH Clinical Center for Kartagener Syndrome

Cochrane evidence based reviews: kartagener syndrome

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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:

40
Lung, Heart, Kidney, Thyroid, Testes, Brain, Liver
Sources

Publications for Kartagener Syndrome

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Articles related to Kartagener Syndrome:

(show top 50) (show all 265)
# Title Authors PMID Year
1
Carrier status for 3 most frequent CFTR mutations in Polish PCD/KS patients: lack of association with the primary ciliary dyskinesia phenotype. 54 61
17272866 2007
2
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 54 61
11231901 2001
3
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. 61
31835165 2019
4
A case of protein-losing gastroenteropathy caused by systemic AA amyloidosis secondary to undifferentiated carcinoma of unknown primary origin. 61
31398725 2019
5
Clinical and Genetic Analysis of Children with Kartagener Syndrome. 61
31443223 2019
6
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis. 61
31345208 2019
7
Laparoscopic sleeve gastrectomy in a patient with situs inversus totalis and Kartagener syndrome: an unusual surgical conundrum. 61
31345831 2019
8
Asthma as aetiology of bronchiectasis in Finland. 61
31128603 2019
9
[Kartagener syndrome: neonatal diagnosis. A case report]. 61
31063320 2019
10
Kartagener syndrome. 61
30351433 2019
11
[A New-born Case of Total Conus Defect and Single Coronary Artery with Situs Inversus Totalis Suspected Kartagener Syndrome]. 61
30923296 2019
12
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. 61
31507630 2019
13
[Kartagener's syndrome found incidentally during assessment of infertile couple: a case study]. 61
31692834 2019
14
Individualized physical training in the therapy of Primary Ciliary Dyskinesia - A case report. 61
31463189 2019
15
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. 61
28952366 2018
16
Retinal pigment epithelium changes in Kartagener syndrome. 61
29511746 2018
17
Brain structural and functional asymmetry in human situs inversus totalis. 61
29302744 2018
18
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. 61
26976528 2018
19
[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]. 61
29429202 2018
20
Kartagener syndrome complicated by immunoglobulin A nephropathy. 61
30573994 2018
21
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review. 61
28859703 2017
22
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. 61
29152435 2017
23
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 61
28543983 2017
24
Kartagener syndrome. 61
28402566 2017
25
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. 61
28992906 2017
26
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. 61
28638261 2017
27
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. 61
27988889 2017
28
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. 61
28649564 2017
29
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. 61
27746084 2016
30
Anaesthetic Management for Appendectomy in a Patient with Situs Inversus Totalis. 61
27366569 2016
31
Sperm dysfunction and ciliopathy. 61
29259424 2016
32
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. 61
26960394 2016
33
[Situs inversus – a part of the Kartagener syndrome]. 61
27045793 2016
34
A case of Kartagener syndrome with rhinolalia clausa. 61
27375831 2016
35
[Kartagener syndrome--case report]. 61
27197433 2016
36
[A Case of Kartagener's Syndrome in Infertile Male Patients]. 61
26790766 2015
37
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. 61
26284775 2015
38
[Analysis of the clinical characteristics of Kartagener syndrome in Chinese and foreign children]. 61
26758325 2015
39
[Kartagener syndrome and papillary thyroid carcinoma: an unusual combination]. 61
26930919 2015
40
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. 61
26227396 2015
41
Perioperative implications and management of dextrocardia. 61
25957984 2015
42
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. 61
26250371 2015
43
Kartagener syndrome. 61
25633235 2015
44
Aetiology of bronchiectasis in Guangzhou, southern China. 61
25819403 2015
45
Complete Situs Inversus in 2 Asymptomatic Dogs. 61
26359728 2015
46
Healthy twin live-birth after ionophore treatment in a case of theophylline-resistant Kartagener syndrome. 61
25956262 2015
47
Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia. 61
27366497 2015
48
Deficiency of creatine kinase in a ST-segment elevation myocardial infarction patient with Kartagener syndrome. 61
25576715 2015
49
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. 61
24533546 2015
50
[Repeated pulmonary disease: think of Kartagener syndrome]. 61
26664539 2015
Sources

Variations for Kartagener Syndrome

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ClinVar genetic disease variations for Kartagener Syndrome:

6 (show top 50) (show all 84) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CCDC40 NM_017950.4(CCDC40):c.2824_2825insCTGT (p.Arg942fs)insertion Pathogenic 194774 rs587778819 17:78063675-78063676 17:80089876-80089877
2 DNAAF2 NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs)duplication Pathogenic 208847 rs397515341 14:50100653-50100654 14:49633935-49633936
3 DNAH1 NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)SNV Pathogenic 209005 rs544674332 3:52387629-52387629 3:52353613-52353613
4 DNAH5 NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter)SNV Pathogenic 208992 rs771663107 5:13865784-13865784 5:13865675-13865675
5 MCIDAS NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)SNV Pathogenic 209009 rs797045152 5:54516210-54516210 5:55220382-55220382
6 MCIDAS NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)SNV Pathogenic 209008 rs797045151 5:54516255-54516255 5:55220427-55220427
7 MCIDAS NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)SNV Pathogenic 209007 rs777031813 5:54518169-54518169 5:55222341-55222341
8 CCNO NM_021147.5(CCNO):c.716A>G (p.His239Arg)SNV Pathogenic 209004 rs797045150 5:54527540-54527540 5:55231712-55231712
9 RSPH4A NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)duplication Pathogenic 208994 rs797045147 6:116937949-116937950 6:116616786-116616787
10 RSPH3 NM_031924.5(RSPH3):c.631-2A>GSNV Pathogenic 209010 rs142800871 6:159407455-159407455 6:158986423-158986423
11 SPAG1 NM_003114.4(SPAG1):c.902_906del (p.Lys301fs)deletion Pathogenic 209000 rs797045149 8:101203683-101203687 8:100191455-100191459
12 LRRC6 NM_012472.6(LRRC6):c.630del (p.Trp210fs)deletion Pathogenic 208996 rs760123202 8:133645009-133645009 8:132632763-132632763
13 ARMC4 NM_001290020.2(ARMC4):c.1669G>T (p.Glu557Ter)SNV Pathogenic 208997 rs145742175 10:28233225-28233225 10:27944296-27944296
14 DNAAF2 NM_018139.2(DNAAF2):c.31del (p.Glu11fs)deletion Pathogenic 208993 rs797045146 14:50101837-50101837 14:49635119-49635119
15 CFAP298 NM_021254.4(CFAP298):c.735C>G (p.Tyr245Ter)SNV Pathogenic 209002 rs202094637 21:33974609-33974609 21:32602299-32602299
16 CCDC151 NM_145045.5(CCDC151):c.925G>T (p.Glu309Ter)SNV Pathogenic 156365 rs587777779 19:11537002-11537002 19:11426182-11426182
17 CCDC151 NM_145045.5(CCDC151):c.1256C>A (p.Ser419Ter)SNV Pathogenic 156366 rs587777780 19:11533390-11533390 19:11422722-11422722
18 RSPH1 NM_080860.4(RSPH1):c.366G>A (p.Arg122=)SNV Pathogenic 208998 rs797045148 21:43905914-43905914 21:42485804-42485804
19 DNAAF1 NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)duplication Pathogenic 263 rs397515339 16:84203778-84203779 16:84170172-84170173
20 DNAAF1 NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)SNV Pathogenic 267 rs267607227 16:84188353-84188353 16:84154748-84154748
21 DNAAF2 NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter)SNV Pathogenic 529 rs137853191 14:50101845-50101845 14:49635127-49635127
22 DNAI2 NM_023036.6(DNAI2):c.346-3T>GSNV Pathogenic 4954 rs397515358 17:72283113-72283113 17:74286974-74286974
23 DNAI1 NM_012144.4(DNAI1):c.48+2dupduplication Pathogenic 5604 rs397515363 9:34459052-34459053 9:34459054-34459055
24 DNAI1 NM_012144.4(DNAI1):c.282_283insAATA (p.Gly95fs)insertion Pathogenic 5605 rs606231164 9:34489341-34489342 9:34489343-34489344
25 DNAI1 NM_012144.4(DNAI1):c.1658_1669del (p.Thr553_Phe556del)deletion Pathogenic 5607 rs606231165 9:34514478-34514489 9:34514480-34514491
26 DNAL1 NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)SNV Pathogenic 30816 rs387907021 14:74156135-74156135 14:73689432-73689432
27 DNAAF3 NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)SNV Pathogenic 31532 rs387907151 19:55677272-55677272 19:55165904-55165904
28 DNAAF3 NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)SNV Pathogenic 31533 rs387907152 19:55676795-55676795 19:55165427-55165427
29 DNAAF3 NM_001256715.2(DNAAF3):c.621dup (p.Val208fs)duplication Pathogenic 31534 rs397515395 19:55673052-55673053 19:55161684-55161685
30 CCDC103 NM_213607.3(CCDC103):c.383dup (p.Pro129fs)duplication Pathogenic 31697 rs587776910 17:42979834-42979835 17:44902466-44902467
31 CCDC114 NM_001364171.2(CCDC114):c.853G>A (p.Ala285Thr)SNV Pathogenic 39637 rs147718607 19:48807210-48807210 19:48303953-48303953
32 HYDIN NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)SNV Pathogenic 39698 rs397515413 16:71022036-71022036 16:70988133-70988133
33 HYDIN NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)SNV Pathogenic 39699 rs397515414 16:71171175-71171175 16:71137272-71137272
34 DRC1 NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)SNV Pathogenic 55839 rs587776997 2:26677651-26677651 2:26454783-26454783
35 DNAI2 NM_023036.6(DNAI2):c.1494+1G>CSNV Pathogenic 65721 rs397515565 17:72306303-72306303 17:74310164-74310164
36 ZMYND10 NM_015896.4(ZMYND10):c.47T>G (p.Val16Gly)SNV Pathogenic 66021 rs138815960 3:50382964-50382964 3:50345533-50345533
37 ZMYND10 NM_015896.4(ZMYND10):c.797T>C (p.Leu266Pro)SNV Pathogenic 66026 rs200913791 3:50379904-50379904 3:50342473-50342473
38 RSPH1 NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)SNV Pathogenic 66987 rs138320978 21:43913159-43913159 21:42493049-42493049
39 RSPH1 NM_080860.4(RSPH1):c.366-3C>ASNV Pathogenic 66988 rs587777058 21:43905917-43905917 21:42485807-42485807
40 RSPH1 NM_080860.4(RSPH1):c.403_406AGTA[1] (p.Lys136fs)short repeat Pathogenic 66989 rs587777059 21:43905870-43905873 21:42485760-42485763
41 RSPH1 NM_080860.4(RSPH1):c.275-2A>CSNV Pathogenic 66990 rs151107532 21:43906573-43906573 21:42486463-42486463
42 RSPH9 NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del)short repeat Pathogenic 66994 rs397515340 6:43638655-43638657 6:43670918-43670920
43 SPAG1 NC_000008.11:g.100151617_100163589deldeletion Pathogenic 88681 8:101163845-101175817 8:100151617-100163589
44 SPAG1 NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter)SNV Pathogenic 88683 rs201740530 8:101245664-101245664 8:100233436-100233436
45 CFAP298 NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)SNV Pathogenic 88689 rs143740376 21:33982163-33982163 21:32609853-32609853
46 CFAP298 NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)deletion Pathogenic 88690 rs398122401 21:33974251-33974254 21:32601941-32601944
47 RSPH4A NM_001010892.3(RSPH4A):c.921+3_921+6deldeletion Pathogenic 88863 rs869320683 6:116944165-116944168 6:116623002-116623005
48 CCNO NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)duplication Pathogenic 139599 rs587777498 5:54529099-54529100 5:55233271-55233272
49 CCNO NM_021147.5(CCNO):c.253_257GGCCC[3] (p.Gln88fs)short repeat Pathogenic 139600 rs587777499 5:54529089-54529090 5:55233261-55233262
50 CCNO NM_021147.5(CCNO):c.926del (p.Pro309fs)deletion Pathogenic 139601 rs587777500 5:54527330-54527330 5:55231502-55231502

Copy number variations for Kartagener Syndrome from CNVD:

7 (show all 11)
# CNVD ID Chromosome 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 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.36 ZMYND10 SPAG1 RSPH9 RSPH4A LRRC6 DRC1
2 cytoskeleton GO:0005856 10.1 ZMYND10 RSPH9 RSPH4A DRC1 DNAI2 DNAI1
3 axoneme GO:0005930 9.93 RSPH9 RSPH4A DRC1 DNAI2 DNAH5 DNAH1
4 cell projection GO:0042995 9.86 RSPH9 RSPH4A LRRC6 HYDIN DRC1 DNAI2
5 motile cilium GO:0031514 9.85 RSPH9 RSPH4A DRC1 DNAH1 CCDC103
6 microtubule GO:0005874 9.81 DNAI2 DNAI1 DNAH5 DNAH1
7 dynein complex GO:0030286 9.73 DNAI2 DNAI1 DNAH5 DNAH1
8 axonemal dynein complex GO:0005858 9.67 DRC1 DNAI2 DNAH5 DNAH1
9 outer dynein arm GO:0036157 9.65 DNAI2 DNAI1 DNAH5 CCDC114 CCDC103
10 cilium GO:0005929 9.53 RSPH9 RSPH4A LRRC6 HYDIN DRC1 DNAI2
11 9+2 motile cilium GO:0097729 9.49 RSPH9 DNAH5
12 radial spoke GO:0001534 9.48 RSPH9 RSPH4A

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cilium assembly GO:0060271 10 RSPH9 RSPH4A DNAI2 DNAH5 DNAAF1 CFAP298
2 cell projection organization GO:0030030 9.97 DNAI2 DNAI1 DNAAF3 CCDC151 CCDC103 ARMC4
3 heart development GO:0007507 9.91 DRC1 DNAI1 DNAH5 ARMC4
4 determination of left/right symmetry GO:0007368 9.91 DRC1 DNAI2 DNAI1 DNAH5 CCDC151 CCDC103
5 flagellated sperm motility GO:0030317 9.88 LRRC6 DNAI1 DNAH5 DNAH1 CCDC40
6 microtubule-based movement GO:0007018 9.87 DNAI2 DNAI1 DNAH5 DNAH1
7 epithelial cilium movement GO:0003351 9.8 DNAI1 DNAH5 DNAH1 CCDC40 CCDC103
8 motile cilium assembly GO:0044458 9.8 ZMYND10 RSPH9 LRRC6 DNAAF3 DNAAF1 CCDC40
9 heart looping GO:0001947 9.77 DNAAF1 CCDC40 CCDC103
10 axonemal dynein complex assembly GO:0070286 9.76 SPAG1 DRC1 DNAAF3 DNAAF2 DNAAF1 CCDC40
11 axoneme assembly GO:0035082 9.73 RSPH9 RSPH4A CCDC40
12 epithelial cilium movement involved in determination of left/right asymmetry GO:0060287 9.73 LRRC6 DNAAF1 CCDC40 CCDC103
13 inner dynein arm assembly GO:0036159 9.73 ZMYND10 LRRC6 DNAH1 DNAAF1 CCDC40 CCDC103
14 cilium movement involved in cell motility GO:0060294 9.72 RSPH9 RSPH4A DNAH1
15 cilium-dependent cell motility GO:0060285 9.71 DRC1 DNAH1 DNAAF2
16 determination of digestive tract left/right asymmetry GO:0071907 9.7 DNAAF1 CCDC40 CCDC103
17 regulation of cilium beat frequency GO:0003356 9.69 DNAAF1 CCDC40 ARMC4
18 outer dynein arm assembly GO:0036158 9.65 ZMYND10 LRRC6 DNAI2 DNAI1 DNAH5 DNAAF1
19 ventricular system development GO:0021591 9.61 HYDIN ARMC4
20 determination of liver left/right asymmetry GO:0071910 9.59 DNAAF1 CCDC40
21 determination of pancreatic left/right asymmetry GO:0035469 9.58 DNAAF1 CCDC40
22 regulation of cilium movement GO:0003352 9.58 DRC1 CFAP298
23 cilium movement GO:0003341 9.47 RSPH9 RSPH4A LRRC6 HYDIN DNAI2 DNAI1

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

# Name GO ID Score Top Affiliating Genes
1 ATP-dependent microtubule motor activity, plus-end-directed GO:0008574 9.43 DNAI2 DNAI1
2 dynein light intermediate chain binding GO:0051959 9.4 DNAH5 DNAH1
3 dynein intermediate chain binding GO:0045505 9.37 DNAH5 DNAH1
4 ATP-dependent microtubule motor activity, minus-end-directed GO:0008569 9.32 DNAH5 DNAH1
5 dynein heavy chain binding GO:0045504 9.26 DNAI2 DNAI1
6 dynein light chain binding GO:0045503 9.16 DNAI2 DNAI1
7 microtubule motor activity GO:0003777 9.13 DNAI2 DNAH5 DNAH1
8 motor activity GO:0003774 8.92 DNAI2 DNAI1 DNAH5 DNAH1
Sources

Sources for Kartagener Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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