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BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS, TYPE I

MedGen UID:
443984
Concept ID:
C2931135
Disease or Syndrome
Synonyms: Blepharophimosis syndrome type 1; Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1; Blepharophimosis, ptosis, epicanthus inversus type 1; Blepharophimosis, ptosis, epicanthus inversus with ovarian failure; BPES I; BPES type 1; BPES with ovarian failure; BPES with premature ovarian failure

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530

Recent clinical studies

Etiology

Jordan P, Verebi C, Hervé B, Perol S, Chakhtoura Z, Courtillot C, Bachelot A, Karila D, Renard C, Grouthier V, de la Croix SM, Bernard V, Fouveaut C, de la Perrière AB, Jonard-Catteau S, Touraine P, Plu-Bureau G, Dupont JM, Christin-Maitre S, Bienvenu T
Clin Genet 2024 Jul;106(1):102-108. Epub 2024 Apr 1 doi: 10.1111/cge.14526. PMID: 38558253
Wang Y, Wu Q, Cao W, Huang L, Liu W, Li C, Li N
Mol Vis 2022;28:352-358. Epub 2022 Oct 6 PMID: 36338666Free PMC Article
Bunyan DJ, Thomas NS
Eur J Med Genet 2019 Jul;62(7):103668. Epub 2019 May 8 doi: 10.1016/j.ejmg.2019.05.007. PMID: 31077882
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
Beysen D, Vandesompele J, Messiaen L, De Paepe A, De Baere E
Hum Mutat 2004 Sep;24(3):189-93. doi: 10.1002/humu.20079. PMID: 15300845

Diagnosis

Wang Y, Wu Q, Cao W, Huang L, Liu W, Li C, Li N
Mol Vis 2022;28:352-358. Epub 2022 Oct 6 PMID: 36338666Free PMC Article
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
Dixit H, Rao L, Padmalatha V, Raseswari T, Kapu AK, Panda B, Murthy K, Tosh D, Nallari P, Deenadayal M, Gupta N, Chakrabarthy B, Singh L
Reprod Biomed Online 2010 Jun;20(6):724-40. Epub 2010 Mar 1 doi: 10.1016/j.rbmo.2010.02.018. PMID: 20382564
Leon-Mateos A, Ginarte M, Ruiz-Ponte C, Carracedo A, Toribio J
Int J Dermatol 2007 Jan;46(1):61-3. doi: 10.1111/j.1365-4632.2007.03066.x. PMID: 17214723
Strømme P, Sandboe F
Acta Ophthalmol Scand 1996 Feb;74(1):45-7. doi: 10.1111/j.1600-0420.1996.tb00680.x. PMID: 8689480

Therapy

Zhu X, Li J, Ru T, Wang Y, Xu Y, Yang Y, Wu X, Cram DS, Hu Y
Prenat Diagn 2016 Apr;36(4):321-7. Epub 2016 Mar 8 doi: 10.1002/pd.4782. PMID: 26833920
Roth LW, Alvero R
J Reprod Med 2014 Jan-Feb;59(1-2):87-9. PMID: 24597293

Prognosis

Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Tyers AG
Orbit 2011 Oct;30(5):199-201. doi: 10.3109/01676830.2010.547266. PMID: 21957947
Bell R, Murday VA, Patton MA, Jeffery S
Genet Test 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. PMID: 11960581
De Baere E, Dixon MJ, Small KW, Jabs EW, Leroy BP, Devriendt K, Gillerot Y, Mortier G, Meire F, Van Maldergem L, Courtens W, Hjalgrim H, Huang S, Liebaers I, Van Regemorter N, Touraine P, Praphanphoj V, Verloes A, Udar N, Yellore V, Chalukya M, Yelchits S, De Paepe A, Kuttenn F, Fellous M, Veitia R, Messiaen L
Hum Mol Genet 2001 Jul 15;10(15):1591-600. doi: 10.1093/hmg/10.15.1591. PMID: 11468277

Clinical prediction guides

Hu J, Ke H, Luo W, Yang Y, Liu H, Li G, Qin Y, Ma J, Zhao S
J Assist Reprod Genet 2020 Jan;37(1):223-229. Epub 2019 Dec 10 doi: 10.1007/s10815-019-01651-2. PMID: 31823134Free PMC Article
Li F, Chai P, Fan J, Wang X, Lu W, Li J, Ge S, Jia R, Zhang H, Fan X
Cell Physiol Biochem 2018;45(1):203-211. Epub 2018 Jan 15 doi: 10.1159/000486358. PMID: 29339661
Chai P, Li F, Fan J, Jia R, Zhang H, Fan X
Int J Biol Sci 2017;13(8):1019-1028. Epub 2017 Jul 18 doi: 10.7150/ijbs.19532. PMID: 28924383Free PMC Article
Nuovo S, Passeri M, Di Benedetto E, Calanchini M, Meldolesi I, Di Giacomo MC, Petruzzi D, Piemontese MR, Zelante L, Sangiuolo F, Novelli G, Fabbri A, Brancati F
J Endocrinol Invest 2016 Feb;39(2):227-33. Epub 2015 Jun 23 doi: 10.1007/s40618-015-0334-3. PMID: 26100530
Bell R, Murday VA, Patton MA, Jeffery S
Genet Test 2001 Winter;5(4):335-8. doi: 10.1089/109065701753617499. PMID: 11960581

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