FaCD Online Syndrome Fact Sheet

Last updated: 14 Feb 2011

Name: Kartagener syndrome

Synonym: Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome

Mode of Inheritance: AR

OMIM number: 244400   612274   612272   612273  

Genes

DNAH11, mapped to 7p21
DNAH5, mapped to 5p15-p14
DNAI1, mapped to 9p21-p13
DNAI2, mapped to 17q25
KTGS4, mapped to 15q24-q25
KTU, mapped to 14q21.3
LRRC50, mapped to 16q24.1
RSPH4A, mapped to 6q22.1
RSPH9, mapped to 6p21.1
TXNDC3, mapped to 7p14-p13

Tumor features (possible)

breast cancer
colorectal cancer
ethmoid labyrinth, cancer of the
lung/bronchial cancer
lymphoma, malignant (Non-Hodgkin and/or Hodgkin)
meningioma
renal cell cancer
seminoma
testicular teratoma

Non-tumor features

ciliary dyskinesia
situs inversus / situs ambiguus

Comment

Kartagener syndrome is one of the primary ciliary dyskinesias. It is clinically characterized by respiratory infections, bronchiectasis, infertility, and dextrocardia. A range of tumors have been reported in patients with Kartagener syndrome[1-10]. See also Situs Inversus.

References

[1] Ramos Barselo E, Portillo Martín JA, Correas Gómez MA, del Valle Schaan JI, Gutiérrez Baños JI, Villanueva Peña A, Roca Edreira A, Aguilera Tubet C, Ballestero Diego R, Zubillaga Guerrero S, Campos Sañudo JA. [Testicular seminoma in a patient with Kartagener's syndrome]. Archivos españoles de urología 2008; 61(3):431-4.
[2] Shirakami G, Namba T, Matsuura S, Fukuda K. [Anesthesia for a patient with Kartagener's syndrome undergoing ambulatory bilateral breast cancer surgery]. Masui. The Japanese journal of anesthesiology 2003; 52(8):866-9.
[3] Jiménez Verdejo A, Martínez Torres JL, Palao Yago F, Tinaut Ranera J, Arrabal Martín M, Miján Ortiz JL, Zuluaga Gómez A. [Renal cell carcinoma in patient with situs inversus and Kartagener syndrome]. Actas urologicas españolas 2000; 24(2):169-72.
[4] Gallelli A, Donato G, Borelli DA, Tripepi S, Brunelli E, Pelaia G, Signorelli CD, Marsico SA. Kartagener's syndrome in a woman with a normal ciliary structure and an intracranial meningioma. Monaldi archives for chest disease 1996; 51(1):27-9.
[5] Yoshida J, Tsuneyoshi M, Nakamura K, Murakami T, Akamine Y. Primary ciliary dyskinesia with transverse colon carcinoma. American journal of clinical pathology 1986; 85(1):101-4.
[6] Benatre A, Medelsi M, Lhuintre Y, Toumieux B. [Bronchial dilatations and bronchial tumor with granulous cells. Apropos of Kartagener's syndrome]. La semaine des hôpitaux : organe fondé par l'Association d'enseignement médical des hôpitaux de Paris 1973; 49(14):1027-9.
[7] Strelka J, Kuniak B. [Carcinoma of the ethmoid labyrinth in Kartagener's syndrome]. Ceskoslovenská otolaryngologie 1972; 21(2):78-80.
[8] Meyer CH. [On the combination of Kartagener syndrome and malignant embryonal testis teratoma]. Frankfurter Zeitschrift für Pathologie 1966; 76(1):21-31.
[9] GUDE HE, HULL JE. Kartagener's syndrome with lymphosarcoma of small intestine. Journal of the American Medical Association 1959; 171():1825-8.
[10] Horie M, Arai H, Noguchi S, Suzuki M, Sakamoto Y, Oka T. [Kartagener syndrome with lung cancer and mediastinal tumor]. [Article in Japanese]. Nihon Kokyuki Gakkai Zasshi. 2010 May;48(5):375-8.