MCID: KRT010
MIFTS: 50

Kartagener Syndrome

Categories: Ear diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Kartagener Syndrome

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:



External Ids:

Disease Ontology 12 DOID:0050144
MeSH 43 D007619
NCIt 49 C84797
SNOMED-CT 67 42402006
UMLS 71 C0022521

Summaries for Kartagener Syndrome

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 Prednisolone phosphate and Methylprednisolone have been mentioned in the context of this disorder. Affiliated tissues include lung, testes and heart, 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...

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 186)
# Related Disease Score Top Affiliating Genes
1 primary ciliary dyskinesia 34.4 ZMYND10 SPAG1 RSPH9 RSPH4A LRRC6 HYDIN
2 ciliary dyskinesia, primary, 1 33.8 DNAAF3 DNAAF2 DNAAF1 CFAP298 CCDC40 CCDC151
3 bronchiectasis 33.7 RSPH9 RSPH4A HYDIN DRC1 DNAI2 DNAI1
4 ciliary dyskinesia, primary, 13 32.7 RSPH9 RSPH4A DNAAF2 DNAAF1 CCDC40
5 ciliary dyskinesia, primary, 9 32.7 RSPH9 RSPH4A HYDIN DNAI2 DNAAF2
6 ciliary dyskinesia, primary, 10 32.7 RSPH9 RSPH4A DNAI2 DNAAF2
7 ciliary dyskinesia, primary, 6 32.6 RSPH9 RSPH4A DNAAF2
8 situs inversus 32.4 RSPH9 RSPH4A LRRC6 HYDIN DRC1 DNAI2
9 dextrocardia 31.8 RSPH9 DNAI2 DNAI1 DNAH5 CCDC40 CCDC151
10 visceral heterotaxy 31.3 ZMYND10 SPAG1 RSPH9 RSPH4A LRRC6 HYDIN
11 ciliary dyskinesia, primary, 8 31.3 DRC1 DNAI1 DNAH5 CCDC40 CCDC151 CCDC114
12 dextro-looped transposition of the great arteries 30.8 DNAI1 DNAH5 ARMC4
13 dextrocardia with situs inversus 11.5
14 ciliary dyskinesia, primary, 40 11.3
15 ciliary dyskinesia, primary, 36, x-linked 11.1
16 ciliary dyskinesia, primary, 2 11.1
17 ciliary dyskinesia, primary, 3 11.1
18 ciliary dyskinesia, primary, 5 11.1
19 ciliary dyskinesia, primary, 7 11.1
20 ciliary dyskinesia, primary, 11 11.1
21 ciliary dyskinesia, primary, 12 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 middle ear disease 10.7 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 CCDC40
43 paranasal sinus disease 10.7 RSPH9 RSPH4A DNAI2 DNAI1 DNAH5 DNAAF2
44 osteogenesis imperfecta, type xi 10.7 DNAI2 DNAI1 CCDC114 ARMC4
45 rigid spine muscular dystrophy 1 10.6 RSPH9 RSPH4A DRC1
46 pulmonary subvalvular stenosis 10.6 DNAAF3 DNAAF2
47 chromosome 17q12 duplication syndrome 10.5 RSPH4A CCDC103
48 acute retrobulbar neuritis 10.5 DNAI2 DNAI1
49 osteogenesis imperfecta, type xiv 10.4 DNAH5 CCDC151
50 autosomal recessive disease 10.4

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
2 cardiovascular system MP:0005385 10.1 ARMC4 CCDC114 CCDC151 DNAAF2 DNAAF3 DNAH5
3 growth/size/body region MP:0005378 10.03 ARMC4 CCDC151 CCDC40 DNAAF2 DNAAF3 DNAH5
4 mortality/aging MP:0010768 9.93 ARMC4 CCDC114 CCDC151 CCDC40 DNAAF1 DNAAF2
5 craniofacial MP:0005382 9.87 CCDC151 DNAAF1 DNAH5 DNAI1 DRC1 HYDIN
6 nervous system MP:0003631 9.65 ARMC4 CCDC151 CCDC40 DNAAF1 DNAAF2 DNAH5
7 respiratory system MP:0005388 9.44 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 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Early Phase 1 302-25-0
2
Methylprednisolone Approved, Vet_approved Early Phase 1 83-43-2 6741
3
mometasone furoate Approved, Investigational, Vet_approved Early Phase 1 83919-23-7
4
Methylprednisolone hemisuccinate Approved Early Phase 1 2921-57-5
5
Prednisolone Approved, Vet_approved Early Phase 1 50-24-8 5755
6 Prednisolone acetate Approved, Vet_approved Early Phase 1 52-21-1
7
Nitric Oxide Approved 10102-43-9 145068
8
Prednisolone hemisuccinate Experimental Early Phase 1 2920-86-7
9 Hormones Early Phase 1
10 Antineoplastic Agents, Hormonal Early Phase 1
11 Methylprednisolone Acetate Early Phase 1
12 Anti-Allergic Agents Early Phase 1
13 Hormone Antagonists Early Phase 1
14 glucocorticoids Early Phase 1
15 Pharmaceutical Solutions Early Phase 1
16 Dermatologic Agents Early Phase 1
17 Antiemetics Early Phase 1
18 Neuroprotective Agents Early Phase 1
19 Gastrointestinal Agents Early Phase 1
20 Protective Agents Early Phase 1
21 Anti-Inflammatory Agents Early Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 The Efficacy of Nasal Steroids in Treatment of Otitis Media With Effusion: Acomparative Study Unknown status NCT03491098 Early Phase 1 Mometasone Furoate spray;prednisolone sodium phosphate 15mg;hypertonic sea water solution spray
2 Research Genetic Testing for Primary Ciliary Dyskinesia Using a Panel of Genes Completed NCT02389049
3 Rare Genetic Disorders of the Airways: Cross-sectional Comparison of Clinical Features, and Development of Novel Screening and Genetic Tests Completed NCT00323167
4 Molecular Diagnosis of Primary Ciliary Dyskinesia Completed NCT00783887
5 Early Onset and Progression of Primary Ciliary Dyskinesia Lung Disease Prior to 10 Years of Age Completed NCT00722878
6 Longitudinal Study of Primary Ciliary Dyskinesia: Participants 5-18 Years of Age Completed NCT00450918
7 Ciliary Dysfunction as an Underlying Etiology Linking Primary Ciliary Dyskinesia With Heterotaxy and Complex Congenital Heart Disease Completed NCT00608556
8 Determination of Normal Values of Nasal Nitric Oxide Measured With the NIOX MINO Analyzer in Adults: a Pilot Study Completed NCT02133547
9 Effect of Game Based Approach on Oxygenation, Functional Capacity and Quality of Life in Primary Ciliary Dyskinesia Recruiting NCT03832491
10 International Primary Ciliary Dyskinesia Cohort Recruiting NCT03517865
11 Swiss Primary Ciliary Dyskinesia Registry Recruiting NCT03606200
12 Diagnostic and Clinical Characterization of Patients With Unusual Genetic Disorders of the Airways Suspended NCT00807482

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 29 DNAI1

Anatomical Context for Kartagener Syndrome

MalaCards organs/tissues related to Kartagener Syndrome:

40
Lung, Testes, Heart, Brain, Kidney, Pancreas, Thyroid

Publications for Kartagener Syndrome

Articles related to Kartagener Syndrome:

(show top 50) (show all 272)
# 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). 61 54
11231901 2001
3
Kartagener Syndrome. 61
32245568 2020
4
Technical Challenges in Lung Transplantation of Kartagener Syndrome Recipients: A Unique Team Experience With 12 Patients. 61
32299703 2020
5
Identification of a frame shift mutation in the CCDC151 gene in a Han-Chinese family with Kartagener syndrome. 61
32490514 2020
6
Double lung transplantation for end-stage Kartagener syndrome: a case report and literature review. 61
32395296 2020
7
Pulmonary mucoepidermoid carcinoma arising in a patient with Kartagener syndrome. 61
32299405 2020
8
Unveiling the genetic etiology of primary ciliary dyskinesia: When standard genetic approach is not enough. 61
31835165 2020
9
Acute Appendicitis in Patients with Kartagener Syndrome. 61
32181046 2020
10
Renal Carcinoma and Kartagener Syndrome: An Unusual Association. 61
32509371 2020
11
Clinical and Genetic Analysis of Children with Kartagener Syndrome. 61
31443223 2019
12
A case of protein-losing gastroenteropathy caused by systemic AA amyloidosis secondary to undifferentiated carcinoma of unknown primary origin. 61
31398725 2019
13
Primary ciliary dyskinesia in Japan: systematic review and meta-analysis. 61
31345208 2019
14
Laparoscopic sleeve gastrectomy in a patient with situs inversus totalis and Kartagener syndrome: an unusual surgical conundrum. 61
31345831 2019
15
Asthma as aetiology of bronchiectasis in Finland. 61
31128603 2019
16
[Kartagener syndrome: neonatal diagnosis. A case report]. 61
31063320 2019
17
Kartagener syndrome. 61
30351433 2019
18
[A New-born Case of Total Conus Defect and Single Coronary Artery with Situs Inversus Totalis Suspected Kartagener Syndrome]. 61
30923296 2019
19
Identification of Pathogenic Mutations and Investigation of the NOTCH Pathway Activation in Kartagener Syndrome. 61
31507630 2019
20
Individualized physical training in the therapy of Primary Ciliary Dyskinesia - A case report. 61
31463189 2019
21
[Kartagener's syndrome found incidentally during assessment of infertile couple: a case study]. 61
31692834 2019
22
When One Rare Disease Hides Another: Kartagener Syndrome Masking FMF. 61
28952366 2018
23
Retinal pigment epithelium changes in Kartagener syndrome. 61
29511746 2018
24
Brain structural and functional asymmetry in human situs inversus totalis. 61
29302744 2018
25
Pitfalls and Challenges of Lung Transplant in a Patient With Kartagener Syndrome and Scoliosis. 61
26976528 2018
26
[Cilia ultrastructural and gene variation of primary ciliary dyskinesia: report of three cases and literatures review]. 61
29429202 2018
27
Kartagener syndrome complicated by immunoglobulin A nephropathy. 61
30573994 2018
28
Sinus bacteriology in patients with cystic fibrosis or primary ciliary dyskinesia: A systematic review. 61
28859703 2017
29
A Full-Blown Case of Bronchiectasis: Kartagener Syndrome Without Infertility Diagnosed Later in Life. 61
29152435 2017
30
Mutation of serine/threonine protein kinase 36 (STK36) causes primary ciliary dyskinesia with a central pair defect. 61
28543983 2017
31
Kartagener syndrome. 61
28402566 2017
32
Renal Amyloidosis Associated With Kartagener Syndrome in a Dog. 61
28992906 2017
33
Coincidence of Polysplenia, Kartagener Syndrome, Dorsal Pancreas Agenesis, and Polycystic Kidney Disease in an Adult. 61
28638261 2017
34
Clinical and genetic analysis of a family with Kartagener syndrome caused by novel DNAH5 mutations. 61
27988889 2017
35
Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies. 61
28649564 2017
36
Outcomes of lung transplantation for primary ciliary dyskinesia and Kartagener syndrome. 61
27746084 2016
37
Sperm dysfunction and ciliopathy. 61
29259424 2016
38
Anaesthetic Management for Appendectomy in a Patient with Situs Inversus Totalis. 61
27366569 2016
39
Left middle lobectomy for bronchiectasis in a patient with Kartagener syndrome: a case report. 61
26960394 2016
40
[Situs inversus – a part of the Kartagener syndrome]. 61
27045793 2016
41
A case of Kartagener syndrome with rhinolalia clausa. 61
27375831 2016
42
[Kartagener syndrome--case report]. 61
27197433 2016
43
[A Case of Kartagener's Syndrome in Infertile Male Patients]. 61
26790766 2015
44
Adenocarcinoma of the Cervix Uteri and Endometrium Combined With the Kartagener Syndrome on FDG PET/CT. 61
26284775 2015
45
[Analysis of the clinical characteristics of Kartagener syndrome in Chinese and foreign children]. 61
26758325 2015
46
[Kartagener syndrome and papillary thyroid carcinoma: an unusual combination]. 61
26930919 2015
47
Trans-Umbilical Single Incision Laparoscopic Sleeve Gastrectomy in a Patient with Situs Inversus Totalis and Kartagener Syndrome: Video Report. 61
26227396 2015
48
Perioperative implications and management of dextrocardia. 61
25957984 2015
49
Allergic bronchopulmonary aspergillosis in an adult with Kartagener syndrome. 61
26250371 2015
50
Kartagener syndrome. 61
25633235 2015

Variations for Kartagener Syndrome

ClinVar genetic disease variations for Kartagener Syndrome:

6 (show top 50) (show all 123) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNAAF1 NM_178452.6(DNAAF1):c.1349dup (p.Pro451fs)duplication Pathogenic 263 rs397515339 16:84203778-84203779 16:84170172-84170173
2 DNAAF1 NM_178452.6(DNAAF1):c.524T>G (p.Leu175Arg)SNV Pathogenic 267 rs267607227 16:84188353-84188353 16:84154748-84154748
3 DNAAF2 NM_018139.2(DNAAF2):c.23C>A (p.Ser8Ter)SNV Pathogenic 529 rs137853191 14:50101845-50101845 14:49635127-49635127
4 DNAI2 NM_023036.6(DNAI2):c.346-3T>GSNV Pathogenic 4954 rs397515358 17:72283113-72283113 17:74286974-74286974
5 DNAI1 NM_012144.4(DNAI1):c.48+2dupduplication Pathogenic 5604 rs397515363 9:34459052-34459053 9:34459054-34459055
6 DNAI1 NM_012144.4(DNAI1):c.282_283insAATA (p.Gly95fs)insertion Pathogenic 5605 rs606231164 9:34489341-34489342 9:34489343-34489344
7 DNAI1 NM_012144.4(DNAI1):c.1658_1669del (p.Thr553_Phe556del)deletion Pathogenic 5607 rs606231165 9:34514478-34514489 9:34514480-34514491
8 DNAL1 NM_031427.4(DNAL1):c.449A>G (p.Asn150Ser)SNV Pathogenic 30816 rs387907021 14:74156135-74156135 14:73689432-73689432
9 DNAAF3 NM_001256715.2(DNAAF3):c.182T>C (p.Leu61Pro)SNV Pathogenic 31532 rs387907151 19:55677272-55677272 19:55165904-55165904
10 DNAAF3 NM_001256715.2(DNAAF3):c.265C>T (p.Arg89Ter)SNV Pathogenic 31533 rs387907152 19:55676795-55676795 19:55165427-55165427
11 DNAAF3 NM_001256715.2(DNAAF3):c.621dup (p.Val208fs)duplication Pathogenic 31534 rs397515395 19:55673052-55673053 19:55161684-55161685
12 CCDC103 NM_213607.3(CCDC103):c.383dup (p.Pro129fs)duplication Pathogenic 31697 rs587776910 17:42979834-42979835 17:44902466-44902467
13 CCDC114 NM_001364171.2(CCDC114):c.853G>A (p.Ala285Thr)SNV Pathogenic 39637 rs147718607 19:48807210-48807210 19:48303953-48303953
14 HYDIN NM_001270974.2(HYDIN):c.3985G>T (p.Val1329Leu)SNV Pathogenic 39698 rs397515413 16:71022036-71022036 16:70988133-70988133
15 HYDIN NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter)SNV Pathogenic 39699 rs397515414 16:71171175-71171175 16:71137272-71137272
16 DRC1 NM_145038.5(DRC1):c.2056A>T (p.Lys686Ter)SNV Pathogenic 55839 rs587776997 2:26677651-26677651 2:26454783-26454783
17 RSPH1 NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)SNV Pathogenic 66987 rs138320978 21:43913159-43913159 21:42493049-42493049
18 RSPH1 NM_080860.4(RSPH1):c.366-3C>ASNV Pathogenic 66988 rs587777058 21:43905917-43905917 21:42485807-42485807
19 RSPH1 NM_080860.4(RSPH1):c.403_406AGTA[1] (p.Lys136fs)short repeat Pathogenic 66989 rs587777059 21:43905870-43905873 21:42485760-42485763
20 RSPH1 NM_080860.4(RSPH1):c.275-2A>CSNV Pathogenic 66990 rs151107532 21:43906573-43906573 21:42486463-42486463
21 RSPH9 NM_152732.5(RSPH9):c.801_803GAA[1] (p.Lys268del)short repeat Pathogenic 66994 rs397515340 6:43638655-43638657 6:43670918-43670920
22 SPAG1 NC_000008.11:g.100151617_100163589deldeletion Pathogenic 88681 8:101163845-101175817 8:100151617-100163589
23 SPAG1 NM_172218.2(SPAG1):c.2014C>T (p.Gln672Ter)SNV Pathogenic 88683 rs201740530 8:101245664-101245664 8:100233436-100233436
24 CFAP298 NM_021254.4(CFAP298):c.292C>T (p.Arg98Ter)SNV Pathogenic 88689 rs143740376 21:33982163-33982163 21:32609853-32609853
25 CFAP298 NM_021254.4(CFAP298):c.792_795del (p.Ala263_Tyr264insTer)deletion Pathogenic 88690 rs398122401 21:33974251-33974254 21:32601941-32601944
26 RSPH4A NM_001010892.3(RSPH4A):c.921+3_921+6deldeletion Pathogenic 88863 rs869320683 6:116944165-116944168 6:116623002-116623005
27 CCNO NM_021147.5(CCNO):c.248_252dup (p.Gly85fs)duplication Pathogenic 139599 rs587777498 5:54529099-54529100 5:55233271-55233272
28 CCNO NM_021147.5(CCNO):c.253_257GGCCC[3] (p.Gln88fs)short repeat Pathogenic 139600 rs587777499 5:54529089-54529090 5:55233261-55233262
29 CCNO NM_021147.5(CCNO):c.926del (p.Pro309fs)deletion Pathogenic 139601 rs587777500 5:54527330-54527330 5:55231502-55231502
30 CCNO NM_021147.5(CCNO):c.961C>T (p.Gln321Ter)SNV Pathogenic 139602 rs587777501 5:54527295-54527295 5:55231467-55231467
31 CCNO NM_021147.5(CCNO):c.263_267dup (p.Val90fs)duplication Pathogenic 139603 rs587777502 5:54529084-54529085 5:55233256-55233257
32 CCNO NM_021147.5(CCNO):c.479_480CT[1] (p.Leu161fs)short repeat Pathogenic 139611 rs587777503 5:54528274-54528275 5:55232446-55232447
33 CCDC151 NM_145045.5(CCDC151):c.925G>T (p.Glu309Ter)SNV Pathogenic 156365 rs587777779 19:11537002-11537002 19:11426182-11426182
34 CCDC151 NM_145045.5(CCDC151):c.1256C>A (p.Ser419Ter)SNV Pathogenic 156366 rs587777780 19:11533390-11533390 19:11422722-11422722
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 DNAAF2 NM_018139.2(DNAAF2):c.1199_1214dupACGATACCTGCGTGGC (p.Gly406Argfs)duplication Pathogenic 208847 rs397515341 14:50100653-50100654 14:49633935-49633936
39 DNAH1 NM_015512.5(DNAH1):c.3460A>C (p.Lys1154Gln)SNV Pathogenic 209005 rs544674332 3:52387629-52387629 3:52353613-52353613
40 DNAH5 NM_001369.2(DNAH5):c.4348C>T (p.Gln1450Ter)SNV Pathogenic 208992 rs771663107 5:13865784-13865784 5:13865675-13865675
41 MCIDAS NM_001190787.3(MCIDAS):c.1142G>A (p.Arg381His)SNV Pathogenic 209009 rs797045152 5:54516210-54516210 5:55220382-55220382
42 MCIDAS NM_001190787.3(MCIDAS):c.1097G>A (p.Gly366Asp)SNV Pathogenic 209008 rs797045151 5:54516255-54516255 5:55220427-55220427
43 MCIDAS NM_001190787.3(MCIDAS):c.441C>A (p.Cys147Ter)SNV Pathogenic 209007 rs777031813 5:54518169-54518169 5:55222341-55222341
44 CCNO NM_021147.5(CCNO):c.716A>G (p.His239Arg)SNV Pathogenic 209004 rs797045150 5:54527540-54527540 5:55231712-55231712
45 RSPH4A NM_001010892.3(RSPH4A):c.166dup (p.Arg56fs)duplication Pathogenic 208994 rs797045147 6:116937949-116937950 6:116616786-116616787
46 RSPH3 NM_031924.5(RSPH3):c.631-2A>GSNV Pathogenic 209010 rs142800871 6:159407455-159407455 6:158986423-158986423
47 SPAG1 NM_003114.4(SPAG1):c.902_906del (p.Lys301fs)deletion Pathogenic 209000 rs797045149 8:101203683-101203687 8:100191455-100191459
48 LRRC6 NM_012472.6(LRRC6):c.630del (p.Trp210fs)deletion Pathogenic 208996 rs760123202 8:133645009-133645009 8:132632763-132632763
49 ARMC4 NM_018076.5(ARMC4):c.1669G>T (p.Glu557Ter)SNV Pathogenic 208997 rs145742175 10:28233225-28233225 10:27944296-27944296
50 DNAAF2 NM_018139.2(DNAAF2):c.31del (p.Glu11fs)deletion Pathogenic 208993 rs797045146 14:50101837-50101837 14:49635119-49635119

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

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 12)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.39 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 motile cilium GO:0031514 9.88 RSPH9 RSPH4A DRC1 DNAH5 DNAH1 CCDC103
5 cell projection GO:0042995 9.86 RSPH9 RSPH4A LRRC6 HYDIN DRC1 DNAI2
6 microtubule GO:0005874 9.81 DNAI2 DNAI1 DNAH5 DNAH1
7 dynein complex GO:0030286 9.76 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 24)
# 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 determination of left/right symmetry GO:0007368 9.95 DRC1 DNAI2 DNAI1 DNAH5 CCDC151 CCDC103
4 heart development GO:0007507 9.91 DRC1 DNAI1 DNAH5 ARMC4
5 flagellated sperm motility GO:0030317 9.88 LRRC6 DNAI1 DNAH5 DNAH1 CCDC40
6 microtubule-based movement GO:0007018 9.86 DNAI2 DNAI1 DNAH5 DNAH1
7 motile cilium assembly GO:0044458 9.85 ZMYND10 RSPH9 LRRC6 DNAAF3 DNAAF1 CCDC40
8 epithelial cilium movement GO:0003351 9.8 LRRC6 DNAI1 DNAH5 DNAH1 CCDC40 CCDC103
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 9.74 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 protein localization to cilium GO:0061512 9.62 ZMYND10 LRRC6
20 ventricular system development GO:0021591 9.61 HYDIN ARMC4
21 determination of liver left/right asymmetry GO:0071910 9.59 DNAAF1 CCDC40
22 determination of pancreatic left/right asymmetry GO:0035469 9.58 DNAAF1 CCDC40
23 regulation of cilium movement GO:0003352 9.58 DRC1 CFAP298
24 cilium movement GO:0003341 9.5 ZMYND10 RSPH9 RSPH4A LRRC6 HYDIN DNAI2

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 9.4 DNAH5 DNAH1
2 dynein light intermediate chain binding GO:0051959 9.37 DNAH5 DNAH1
3 microtubule motor activity GO:0003777 9.33 DNAI2 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 8.96 DNAI2 DNAI1
7 motor activity GO:0003774 8.92 DNAI2 DNAI1 DNAH5 DNAH1

Sources for Kartagener Syndrome

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
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48 NCI
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50 NDF-RT
53 NINDS
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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
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