MCID: KRT010
MIFTS: 30

Kartagener Syndrome malady

Summaries for Kartagener Syndrome

About this section
Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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: 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 are Selected targets of HNF1 and Cytoskeleton remodeling Neurofilaments. Related mouse phenotypes are growth/size and respiratory system.

Wikipedia:63 Primary ciliary dyskinesia (PCD), also known as immotile ciliary syndrome, is a rare, ciliopathic,... more...

Aliases & Classifications for Kartagener Syndrome

About this section
Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 60UMLS
See all sources

Aliases & Descriptions:

kartagener syndrome 42 20 22 44 60
dextrocardia bronchiectasis and sinusitis 42
siewert syndrome 42


Related Diseases for Kartagener Syndrome

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to kartagener syndrome

Clinical Features for Kartagener Syndrome

About this section

Drugs & Therapeutics for Kartagener Syndrome

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Kartagener Syndrome

Drug clinical trials:

Search ClinicalTrials for Kartagener Syndrome

Search NIH Clinical Center for Kartagener Syndrome

Search CenterWatch for Kartagener Syndrome

Genetic Tests for Kartagener Syndrome

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Kartagener Syndrome:

id Genetic test Affiliating Genes
1 Kartagener Syndrome20 22

Anatomical Context for Kartagener Syndrome

About this section

Animal Models for Kartagener Syndrome or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to Kartagener Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053788.5CCDC40, FOXJ1, DNAI1, DNAH11, DNAH5, LEFTY1
2MP:00053888.3CFTR, CCDC39, CCDC40, FOXJ1, DNAI1, DNAH11

Publications for Kartagener Syndrome

About this section

Genetic Variations for Kartagener Syndrome

About this section

Expression for genes affiliated with Kartagener Syndrome

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Kartagener Syndrome

Search GEO for disease gene expression data for Kartagener Syndrome.

Pathways for genes affiliated with Kartagener Syndrome

About this section
Sources:
12EMD Millipore
See all sources

Pathways related to Kartagener Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.1CFTR, RAX
2
Hide members
9.4TCTE3, DNAH5, DNAL1, DNAH11, DNAI2, DNAI1

Compounds for genes affiliated with Kartagener Syndrome

About this section

GO Terms for genes affiliated with Kartagener Syndrome

About this section
Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1motile ciliumGO:03151410.1RSPH4A, RSPH9
2axonemal dynein complexGO:00585810.1DNAH5, DNAH11, DNAI2
3dynein complexGO:03028610.1DNAI1, TCTE3
4ciliumGO:0059299.8DNAI1, CCDC40, CCDC114
5microtubuleGO:0058749.7DNAI1, DNAI2, DNAH11, DNAH5, TCTE3
6cytoskeletonGO:0058569.4RSPH4A, RSPH9, DNAI1, CCDC39
7cilium axonemeGO:0350858.8RSPH4A, CCDC39, CCDC103, DNAI1, DNAI2, DNAH11

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1inner dynein arm assemblyGO:03615910.3DNAAF1, CCDC103
2ciliary cell motilityGO:06028510.2DNAAF2, CCDC39
3regulation of cilium beat frequencyGO:00335610.1CCDC40, DNAAF1
4motile cilium assemblyGO:04445810.1DNAAF1, DNAAF3
5cilium axoneme assemblyGO:03508310.1RSPH9, RSPH4A
6outer dynein arm assemblyGO:03615810.1DNAAF1, CCDC103, CCDC114
7ciliary or bacterial-type flagellar motilityGO:00153910.1DNAH11, DNAH5
8left/right pattern formationGO:06097210.1FOXJ1, DNAAF1
9epithelial cilium movementGO:00335110.0DNAI1, CCDC40
10determination of left/right symmetryGO:00736810.0LEFTY1, DNAH11
11cilium movementGO:0033419.9CCDC103, DNAAF1, RSPH9, RSPH4A
12determination of pancreatic left/right asymmetryGO:0354699.9CCDC39, CCDC40, DNAAF1
13determination of liver left/right asymmetryGO:0719109.9DNAAF1, CCDC40, CCDC39
14cell projection organizationGO:0300309.9DNAI1, CCDC103
15determination of digestive tract left/right asymmetryGO:0719079.8CCDC39, CCDC103, CCDC40, DNAAF1
16epithelial cilium movement involved in determination of left/right asymmetryGO:0602879.8DNAAF1, CCDC40, CCDC103, CCDC39
17lung developmentGO:0303249.7CFTR, DNAAF1, CCDC40, CCDC39
18heart loopingGO:0019479.5CCDC39, CCDC103, CCDC40, FOXJ1, DNAAF1
19axonemal dynein complex assemblyGO:0702869.4DNAAF3, DNAAF1, DNAAF2, CCDC40, CCDC103, CCDC39

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

idNameGO IDScoreTop Affiliating Genes
1motor activityGO:00377410.2TCTE3, DNAI1
2microtubule motor activityGO:0037779.6DNAH5, DNAH11, DNAI2

Products for genes affiliated with Kartagener Syndrome

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kartagener Syndrome

About this section
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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet