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Pleural lymphangiectasia

MedGen UID:
343483
Concept ID:
C1856139
Finding
HPO: HP:0006531

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPleural lymphangiectasia

Conditions with this feature

Hennekam lymphangiectasia-lymphedema syndrome 1
MedGen UID:
860487
Concept ID:
C4012050
Disease or Syndrome
Hennekam lymphangiectasia-lymphedema syndrome (HKLLS1) is an autosomal recessive disorder characterized by generalized lymphatic dysplasia affecting various organs, including the intestinal tract, pericardium, and limbs. Additional features of the disorder include facial dysmorphism and cognitive impairment (summary by Alders et al., 2014). Genetic Heterogeneity of Hennekam Lymphangiectasia-Lymphedema Syndrome See also HKLLS2 (616006), caused by mutation in the FAT4 gene (612411) on chromosome 4q28, and HKLLS3 (618154), caused by mutation in the ADAMTS3 gene (605011) on chromosome 4q13.

Professional guidelines

PubMed

Jackson S, Jnah AJ
Neonatal Netw 2021 Nov 1;40(6):386-392. doi: 10.1891/11-T-705. PMID: 34845089
Dong J, Xin J, Shen W, Wen T, Chen X, Sun Y, Wang R
Acad Radiol 2019 Feb;26(2):275-281. Epub 2018 Jun 6 doi: 10.1016/j.acra.2018.04.023. PMID: 29885759
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Recent clinical studies

Etiology

Pieper CC, Wagenpfeil J, Henkel A, Geiger S, Köster T, Hoss K, Luetkens JA, Hart C, Attenberger UI, Müller A
Sci Rep 2022 Jul 1;12(1):11164. doi: 10.1038/s41598-022-13806-w. PMID: 35778409Free PMC Article
Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Ji Y, Chen S, Peng S, Xia C, Li L
Orphanet J Rare Dis 2019 Jul 5;14(1):165. doi: 10.1186/s13023-019-1147-9. PMID: 31277673Free PMC Article
Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326

Diagnosis

Sun JD, Shum T, Behzadi F, Hammer MM
Radiographics 2022 Sep-Oct;42(5):1265-1282. Epub 2022 Aug 12 doi: 10.1148/rg.220040. PMID: 35960666
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Reiterer F, Grossauer K, Morris N, Uhrig S, Resch B
Paediatr Respir Rev 2014 Sep;15(3):275-80. Epub 2014 May 29 doi: 10.1016/j.prrv.2014.05.002. PMID: 24997116
Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089Free PMC Article
Bellini C, Boccardo F, Campisi C, Toma P, Taddei G, Villa G, Nozza P, Serra G, Bonioli E
Lymphology 2005 Sep;38(3):111-21. PMID: 16353488

Therapy

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Saulytė-Trakymienė S, Adomaitienė I, Unkrig S, Oldenburg J, Ivaškevičius V
Hamostaseologie 2017;37(S 01):S26-S31. Epub 2017 Dec 28 doi: 10.5482/HAMO-17-03-0012. PMID: 29582922
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Wang X, Jin H, Wu W
Medicine (Baltimore) 2016 Mar;95(10):e2849. doi: 10.1097/MD.0000000000002849. PMID: 26962779Free PMC Article
Al-Mogairen SM
Rheumatol Int 2011 Aug;31(8):995-1001. Epub 2011 Feb 23 doi: 10.1007/s00296-011-1827-9. PMID: 21344315

Prognosis

Ji Y, Chen S, Peng S, Xia C, Li L
Orphanet J Rare Dis 2019 Jul 5;14(1):165. doi: 10.1186/s13023-019-1147-9. PMID: 31277673Free PMC Article
Yuan SM
Klin Padiatr 2017 Jul;229(4):205-208. Epub 2017 Jul 17 doi: 10.1055/s-0043-112500. PMID: 28718185
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Xiao ZY, Tao Y, Tang XY, Chen GJ, Guo L
World J Pediatr 2009 Feb;5(1):68-70. Epub 2009 Jan 27 doi: 10.1007/s12519-009-0014-5. PMID: 19172338
Bellini C, Boccardo F, Campisi C, Bonioli E
Orphanet J Rare Dis 2006 Oct 30;1:43. doi: 10.1186/1750-1172-1-43. PMID: 17074089Free PMC Article

Clinical prediction guides

Ji Y, Chen S, Peng S, Xia C, Li L
Orphanet J Rare Dis 2019 Jul 5;14(1):165. doi: 10.1186/s13023-019-1147-9. PMID: 31277673Free PMC Article
Hammi S, Berrani H, Benouchen T, Lamlami N, Elkhiyat I, Bourkadi JE
Pan Afr Med J 2017;26:89. Epub 2017 Feb 23 doi: 10.11604/pamj.2017.26.89.11125. PMID: 28491220Free PMC Article
Itkin M
Tech Vasc Interv Radiol 2016 Dec;19(4):299-304. Epub 2016 Oct 8 doi: 10.1053/j.tvir.2016.10.005. PMID: 27993326
Vignes S, Bellanger J
Orphanet J Rare Dis 2008 Feb 22;3:5. doi: 10.1186/1750-1172-3-5. PMID: 18294365Free PMC Article
Lester LA, Rothberg RM, Krantman HJ, Shermeta DW
J Allergy Clin Immunol 1986 Nov;78(5 Pt 1):891-7. doi: 10.1016/0091-6749(86)90236-8. PMID: 3782656

Recent systematic reviews

Resch B, Sever Yildiz G, Reiterer F
Respiration 2022;101(1):84-96. Epub 2021 Sep 1 doi: 10.1159/000518217. PMID: 34515211Free PMC Article
Al-Mogairen SM
Rheumatol Int 2011 Aug;31(8):995-1001. Epub 2011 Feb 23 doi: 10.1007/s00296-011-1827-9. PMID: 21344315

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