Lymphedema–distichiasis syndrome
Lymphedema–distichiasis syndrome is a medical condition associated with the FOXC2 gene.[2]:849 People with this hereditary condition have a double row of eyelashes, which is called distichiasis, and a risk of swollen limbs due to problems in the lymphatic system.
Lymphedema–distichiasis syndrome | |
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Other names | Lymphedema with distichiasis[1] |
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Lymphedema–distichiasis syndrome is inherited in an autosomal dominant manner |
See also
- Lymphedema
- Aagenaes syndrome
- List of cutaneous conditions
Notes
- "Lymphedema-distichiasis syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 21 April 2019.
- James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: clinical Dermatology. Saunders Elsevier. ISBN 978-0-7216-2921-6.
- Rakhmanov, Yeltay; Maltese, Paolo Enrico; Paolacci, Stefano; Marinelli, Carla; Bertelli, Matteo (2018-09-01). "Genetic testing for lymphedema-distichiasis syndrome". The EuroBiotech Journal. 2 (s1): 13–15. doi:10.2478/ebtj-2018-0026. ISSN 2564-615X.
- Kolin, Talia (1991-07-01). "Hereditary Lymphedema and Distichiasis". Archives of Ophthalmology. 109 (7): 980. doi:10.1001/archopht.1991.01080070092042. ISSN 0003-9950. PMC 6693661. PMID 2064580.
- Tavian, D (2016). "FOXC2 disease-mutations identified in lymphedema-distichiasis patients cause both loss and gain of protein function". Oncotarget. 7 (34): 54228–54239. doi:10.18632/oncotarget.9797. PMID 27276711.
- Fang, Jianming; Dagenais, Susan L.; Erickson, Robert P.; Arlt, Martin F.; Glynn, Michael W.; Gorski, Jerome L.; Seaver, Laurie H.; Glover, Thomas W. (December 2000). "Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome". The American Journal of Human Genetics. 67 (6): 1382–1388. doi:10.1086/316915. ISSN 0002-9297. PMC 1287915. PMID 11078474.
- van Steensel, M.A.M.; Damstra, R.J.; Heitink, M.; Bladergroen, R.S.; Veraart, J.; Steijlen, Peter M.; van Geel, M. (December 2009). "Novel missense mutations in theFOXC2gene alter transcriptional activity". Human Mutation. 30 (12): E1002–E1009. doi:10.1002/humu.21127. ISSN 1059-7794. PMID 19760751.
- Mansour, Sahar; Brice, Glen W.; Jeffery, Steve; Mortimer, Peter (1993), Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E. (eds.), "Lymphedema-Distichiasis Syndrome", GeneReviews®, University of Washington, Seattle, PMID 20301630, retrieved 2020-04-15
- "Lymphedema-Distichiasis Syndrome". NORD (National Organization for Rare Disorders). Retrieved 2020-04-15.
- Reference, Genetics Home. "Lymphedema-distichiasis syndrome". Genetics Home Reference. Retrieved 2020-04-15.
References
- Mangion J, Rahman N, Mansour S, Brice G, Rosbotham J, Child A, Murday V, Mortimer P, Barfoot R, Sigurdsson A, Edkins S, Sarfarazi M, Burnand K, Evans A, Nunan T, Stratton M, Jeffery S (1999). "A gene for lymphedema-distichiasis maps to 16q24.3". Am J Hum Genet. 65 (2): 427–32. doi:10.1086/302500. PMC 1377941. PMID 10417285.
External links
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