MCID: KRT010
MIFTS: 39

Kartagener Syndrome malady

Genetic diseases, Rare diseases categories
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Summaries for Kartagener Syndrome

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NIH Rare Diseases:42 Kartagener syndrome is a type of primary ciliary dyskinesia associated with situs inversus (mirror-image reversal of internal organs). kartagener syndrome is inherited in an autosomal recessive fashion and is characterized by the triad of situs inversus, bronchiectasis and sinusitis. about 50% of individuals with primary ciliary dyskinesia have kartagener syndrome. last updated: 7/12/2011

MalaCards based summary: Kartagener Syndrome, also known as dextrocardia bronchiectasis and sinusitis, is related to primary ciliary dyskinesia and situs inversus. An important gene associated with Kartagener Syndrome is DNAI1 (dynein, axonemal, intermediate chain 1), and among its related pathways is Cytoplasmic microtubules. The compound salicylic acid have been mentioned in the context of this disorder. Affiliated tissues include lung, and related mouse phenotypes are liver/biliary system and hematopoietic system.

Wikipedia:65 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

Aliases & Classifications for Kartagener Syndrome

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Kartagener Syndrome, Aliases & Descriptions:

Name: Kartagener Syndrome 30 42 20 22 44 62
Dextrocardia Bronchiectasis and Sinusitis 42
 
Siewert Syndrome 42


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Related Diseases for Kartagener Syndrome

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



Diseases related to kartagener syndrome

Symptoms for Kartagener Syndrome

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Drugs & Therapeutics for Kartagener Syndrome

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Drug clinical trials:

Search ClinicalTrials for Kartagener Syndrome

Search NIH Clinical Center for Kartagener Syndrome

Genetic Tests for Kartagener Syndrome

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Genetic tests related to Kartagener Syndrome:

id Genetic test Affiliating Genes
1 Kartagener Syndrome20 22

Anatomical Context for Kartagener Syndrome

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MalaCards organs/tissues related to Kartagener Syndrome:

32
Lung

Animal Models for Kartagener Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kartagener Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.5CFTR, DNAH11, DNAH5
2MP:00053978.5DNAH5, DNAH11, CFTR
3MP:00053818.4DNAH5, DNAH11, CFTR
4MP:00053858.2DNAH11, DNAH5, DNAI1
5MP:00053888.1DNAI1, DNAH5, DNAH11, CFTR
6MP:00053878.1CFTR, DNAH11, DNAH5, DNAI1
7MP:00053788.1DNAI1, DNAH5, DNAH11, CFTR

Publications for Kartagener Syndrome

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Articles related to Kartagener Syndrome:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Manifold embryonic ciliary functions in the genesis of kartagener syndrome and heterotaxy. (25367485)
2014
2
Re: Kartagener syndrome with focal segmental glomerulosclerosis. (25001147)
2014
3
Adenosquamous carcinoma of paranasal sinuses and Kartagener syndrome: an unusual combination. (24718008)
2014
4
Primary ciliary dyskinesia diagnosed by electron microscopy in one case of Kartagener syndrome. (25178347)
2014
5
Left video-assisted thoracoscopic surgery esophagectomy in a patient with situs inversus totalis and Kartagener syndrome. (25087796)
2014
6
Endoscopic sinus surgery for treatment of kartagener syndrome: a case report. (25207108)
2013
7
Kartagener syndrome with focal segmental glomerulosclerosis. (24241099)
2013
8
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. (23288129)
2012
9
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. (22595222)
2012
10
Kartagener syndrome. (21372103)
2012
11
An unusual case of Kartagener syndrome. (21497979)
2012
12
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. (22104985)
2012
13
Kartagener syndrome. (20562592)
2011
14
Kartagener syndrome. (21403791)
2011
15
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. (21718985)
2011
16
Bronchiolitis as a feature of kartagener syndrome: a case report. (23169026)
2011
17
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. (20796272)
2010
18
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. (20868986)
2010
19
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. (20550487)
2010
20
Kartagener syndrome in a Nigerian African--a case report and literature review. (20120152)
2009
21
Kartagener syndrome: a rare genetic disorder. (19529061)
2009
22
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. (19606528)
2009
23
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. (18270537)
2008
24
Evaluation of residual functional lung volume on Tc-99m DTPA aerosol ventilation and Tc-99m MAA perfusion scintigraphy in primary ciliary dyskinesia (Kartagener syndrome). (19033804)
2008
25
Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. (18026660)
2007
26
Renal amyloidosis in a patient with Kartagener syndrome. (17365923)
2007
27
Lung transplantation in Kartagener syndrome and situs inversus: potential of multidetector row computed tomography and three-dimensional postprocessing. (17723847)
2007
28
Lung abscess in a patient with Kartagener syndrome. (17288100)
2007
29
Rheumatoid arthritis and Kartagener syndrome: a rare combination. (16935545)
2006
30
Localization of candidate regions for a novel gene for Kartagener syndrome. (16639409)
2006
31
Kartagener syndrome. (16940490)
2006
32
Abnormal mucociliary transport study in a patient with Kartagener syndrome. (16550029)
2006
33
Anesthesia with CobraPLA for a patient with Kartagener syndrome. (17072712)
2006
34
Kartagener syndrome and rheumatoid arthritis. (16484876)
2006
35
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. (16397065)
2006
36
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. (12627427)
2003
37
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). (11231901)
2001
38
Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. (9915976)
1999
39
Cardiac surgery for Kartagener syndrome. (8960500)
1997
40
The Kartagener syndrome--an electron microscopic studies of biopsied mucosa. (9646677)
1997
41
Markham rotation of the electron microscopic images of cilia as an accessory method in differential diagnosis between Kartagener syndrome and Sturgess syndrome. (8878622)
1996
42
Kartagener syndrome: an uncommon cause of neonatal respiratory distress? (7758526)
1995
43
Characterization of a chemotactic defect in patients with Kartagener syndrome. (2138462)
1990
44
Cell motility and microtubules in cultured fibroblasts from patients with Kartagener syndrome. (6224564)
1983
45
Inheritance of Kartagener syndrome. (6972169)
1981
46
Kartagener syndrome with abnormalities of cilia. (306444)
1978
47
Kartagener syndrome: report of a case with mesangiocapillary glomerulonephritis. (300013)
1977
48
The Kartagener syndrome. (1083082)
1975
49
Kartagener syndrome. Case report in an elderly man. (4544537)
1974
50
The Kartagener syndrome. (14795162)
1950

Variations for Kartagener Syndrome

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Clinvar genetic disease variations for Kartagener Syndrome:

6
id Gene Name Type Significance SNP ID Assembly Location
1DNAI1NM_001184940.1(FAM219A): c.-792dupduplicationPathogenicrs397515363GRCh37Chr 9, 34459053: 34459053
2DNAI1NM_012144.3(DNAI1): c.1543G> A (p.Gly515Ser)single nucleotide variantPathogenicrs79833450GRCh37Chr 9, 34513163: 34513163
3DNAI1NM_012144.3(DNAI1): c.1490G> A (p.Gly497Asp)single nucleotide variantPathogenicrs376252276GRCh37Chr 9, 34513110: 34513110
4DNAI1NM_012144.3(DNAI1): c.2001+1G> Asingle nucleotide variantPathogenicrs397515563GRCh37Chr 9, 34517466: 34517466

Expression for genes affiliated with Kartagener Syndrome

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Expression patterns in normal tissues for genes affiliated with Kartagener Syndrome

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Pathways for genes affiliated with Kartagener Syndrome

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Pathways related to Kartagener Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Cytoskeleton remodeling Neurofilaments60
8.5DNAI1, DNAH5, DNAH11

Compounds for genes affiliated with Kartagener Syndrome

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Sources:
44Novoseek, 28IUPHAR
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Compounds related to Kartagener Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1salicylic acid44 2810.4DNAI1, CFTR

GO Terms for genes affiliated with Kartagener Syndrome

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Cellular components related to Kartagener Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axonemal dynein complexGO:0058588.7DNAH5, DNAH11
2microtubuleGO:0058748.5DNAI1, DNAH5, DNAH11

Biological processes related to Kartagener Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metabolic processGO:0081529.3DNAI1, DNAH5
2cilium or flagellum-dependent cell motilityGO:0015398.9DNAH5, DNAH11
3microtubule-based movementGO:0070188.7DNAH5, DNAH11

Molecular functions related to Kartagener Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1microtubule motor activityGO:0037778.9DNAH5, DNAH11
2ATPase activityGO:0168878.7DNAH5, DNAH11
3ATP bindingGO:0055248.5DNAH5, DNAH11, CFTR

Products for genes affiliated with Kartagener Syndrome

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Sources for Kartagener Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet