MCID: KRT010
MIFTS: 38

Kartagener Syndrome malady

Genetic diseases, Rare diseases categories

Summaries for Kartagener Syndrome

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 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: 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:66 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

Aliases & Classifications for Kartagener Syndrome

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44NIH Rare Diseases, 21GeneTests, 23GTR, 46Novoseek, 63UMLS
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Classifications:

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


Aliases & Descriptions:

kartagener syndrome 44 21 23 46 63
dextrocardia bronchiectasis and sinusitis 44
siewert syndrome 44


Related Diseases for Kartagener Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of 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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Kartagener Syndrome

Genetic Tests for Kartagener Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Kartagener Syndrome:

id Genetic test Affiliating Genes
1 Kartagener Syndrome21 23

Anatomical Context for Kartagener Syndrome

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34MalaCards
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MalaCards organs/tissues related to Kartagener Syndrome:

34
Lung

Animal Models for Kartagener Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Kartagener Syndrome:

38
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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53PubMed
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Articles related to Kartagener Syndrome:

(show all 49)
idTitleAuthorsYear
1
Kartagener syndrome with focal segmental glomerulosclerosis. (24241099)
2013
2
An unusual regression of the symptoms of Kartagener syndrome. (22551925)
2013
3
Coexistence of two rare genetic disorders: Kartagener syndrome and familial Mediterranean fever. (23563507)
2013
4
Lung transplantation without the use of cardiopulmonary bypass in a patient with Kartagener syndrome. (23288129)
2012
5
Kartagener syndrome associated with mesangioproliferative glomerulonephritis. (22595222)
2012
6
Kartagener syndrome. (21372103)
2012
7
An unusual case of Kartagener syndrome. (21497979)
2012
8
Pulmonary arterial hypertension in a Kartagener syndrome patient: treatment with beraprost sodium. (22104985)
2012
9
Kartagener syndrome. (20562592)
2011
10
Kartagener syndrome. (21403791)
2011
11
Birth of a healthy boy using fresh testicular sperm in a patient with Klinefelter syndrome combined with Kartagener syndrome. (21718985)
2011
12
Bronchiolitis as a feature of kartagener syndrome: a case report. (23169026)
2011
13
Coronary artery bypass surgery in a patient with Kartagener syndrome: a case report and literature review. (20796272)
2010
14
Primary ciliary dyskinesia: Kartagener syndrome with central giant cell granuloma. A case report. (20868986)
2010
15
Amyotrophic lateral sclerosis in a patient with Kartagener syndrome. (20550487)
2010
16
Diagnosis: Kartagener syndrome. (20697168)
2010
17
Kartagener syndrome in a Nigerian African--a case report and literature review. (20120152)
2009
18
Kartagener syndrome: a rare genetic disorder. (19529061)
2009
19
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome. (19606528)
2009
20
Sequence analysis of 21 genes located in the Kartagener syndrome linkage region on chromosome 15q. (18270537)
2008
21
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
22
Primary ciliary dyskinesia: considerations regarding six cases of Kartagener syndrome. (18026660)
2007
23
Renal amyloidosis in a patient with Kartagener syndrome. (17365923)
2007
24
Lung transplantation in Kartagener syndrome and situs inversus: potential of multidetector row computed tomography and three-dimensional postprocessing. (17723847)
2007
25
Lung abscess in a patient with Kartagener syndrome. (17288100)
2007
26
Rheumatoid arthritis and Kartagener syndrome: a rare combination. (16935545)
2006
27
Localization of candidate regions for a novel gene for Kartagener syndrome. (16639409)
2006
28
Kartagener syndrome. (16940490)
2006
29
Abnormal mucociliary transport study in a patient with Kartagener syndrome. (16550029)
2006
30
Anesthesia with CobraPLA for a patient with Kartagener syndrome. (17072712)
2006
31
Kartagener syndrome and rheumatoid arthritis. (16484876)
2006
32
Linkage analysis localises a Kartagener syndrome gene to a 3.5 cM region on chromosome 15q24-25. (16397065)
2006
33
Kartagener syndrome: an unusual cause of respiratory distress in the newborn. (17111736)
2006
34
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome. (12627427)
2003
35
Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). (11231901)
2001
36
Exclusion of chromosome 7 for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. (9915976)
1999
37
Cardiac surgery for Kartagener syndrome. (8960500)
1997
38
The Kartagener syndrome--an electron microscopic studies of biopsied mucosa. (9646677)
1997
39
Markham rotation of the electron microscopic images of cilia as an accessory method in differential diagnosis between Kartagener syndrome and Sturgess syndrome. (8878622)
1996
40
Kartagener syndrome: an uncommon cause of neonatal respiratory distress? (7758526)
1995
41
Characterization of a chemotactic defect in patients with Kartagener syndrome. (2138462)
1990
42
Cell motility and microtubules in cultured fibroblasts from patients with Kartagener syndrome. (6224564)
1983
43
Inheritance of Kartagener syndrome. (6972169)
1981
44
Kartagener syndrome with abnormalities of cilia. (306444)
1978
45
Kartagener syndrome: report of a case with mesangiocapillary glomerulonephritis. (300013)
1977
46
The Kartagener syndrome. (1083082)
1975
47
Kartagener syndrome. Case report in an elderly man. (4544537)
1974
48
Cystic fibrosis in a patient with Kartagener syndrome. (4545192)
1974
49
The Kartagener syndrome. (14795162)
1950

Variations for Kartagener Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Kartagener Syndrome:

1
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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2BioGPS, 16Gene Expression Omnibus DataSets
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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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51PathCards, 13EMD Millipore, 61Thomson Reuters
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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 Neurofilaments61
8.5DNAI1, DNAH5, DNAH11

Compounds for genes affiliated with Kartagener Syndrome

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46Novoseek, 30IUPHAR
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Compounds related to Kartagener Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1salicylic acid46 3010.4DNAI1, CFTR

GO Terms for genes affiliated with Kartagener Syndrome

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17Gene Ontology
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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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet