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Rare disorder with ptosis

MedGen UID:
1843136
Concept ID:
C5681651
Disease or Syndrome
Orphanet: ORPHA98578

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRare disorder with ptosis

Professional guidelines

PubMed

Zuo SW, Napoe GS
Curr Opin Obstet Gynecol 2023 Dec 1;35(6):517-524. Epub 2023 Aug 29 doi: 10.1097/GCO.0000000000000914. PMID: 37678190
Keene KR, Kan HE, van der Meeren S, Verbist BM, Tannemaat MR, Beenakker JM, Verschuuren JJGM
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):2820-2834. Epub 2022 Sep 29 doi: 10.1002/jcsm.13089. PMID: 36172973Free PMC Article
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article

Recent clinical studies

Etiology

Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Ho TC, Couch SM, Custer PL
Ophthalmic Plast Reconstr Surg 2022 Sep-Oct 01;38(5):448-451. Epub 2022 Mar 23 doi: 10.1097/IOP.0000000000002157. PMID: 35323142
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328Free PMC Article
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Diagnosis

Drezdzon MK, Peterson CY
Surg Clin North Am 2023 Dec;103(6):1153-1170. Epub 2023 Jul 21 doi: 10.1016/j.suc.2023.05.014. PMID: 37838461
Maetzold E, Takacs EB
Curr Urol Rep 2022 Oct;23(10):225-234. Epub 2022 Sep 17 doi: 10.1007/s11934-022-01109-6. PMID: 36114996
Ho TC, Couch SM, Custer PL
Ophthalmic Plast Reconstr Surg 2022 Sep-Oct 01;38(5):448-451. Epub 2022 Mar 23 doi: 10.1097/IOP.0000000000002157. PMID: 35323142
Yuan SM, Jing H
Sao Paulo Med J 2010 Dec;128(6):360-6. doi: 10.1590/s1516-31802010000600009. PMID: 21308160Free PMC Article
Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328Free PMC Article

Therapy

Hundsberger T, Schreiner B, Roth P
Curr Opin Neurol 2023 Oct 1;36(5):427-431. Epub 2023 Jul 24 doi: 10.1097/WCO.0000000000001188. PMID: 37639489
Rizzi S, Spagnoli C, Frattini D, Pisani F, Fusco C
Behav Neurol 2022;2022:2210555. Epub 2022 Oct 11 doi: 10.1155/2022/2210555. PMID: 36268467Free PMC Article
Small R
Am Fam Physician 2014 Aug 1;90(3):168-75. PMID: 25077722
Leroux E, Ducros A
Orphanet J Rare Dis 2008 Jul 23;3:20. doi: 10.1186/1750-1172-3-20. PMID: 18651939Free PMC Article
Mantle D, Wilkins RM, Preedy V
Med Hypotheses 2005;64(2):279-83. doi: 10.1016/j.mehy.2004.07.023. PMID: 15607555

Prognosis

Small R
Am Fam Physician 2014 Aug 1;90(3):168-75. PMID: 25077722
Sarkozy A, Digilio MC, Dallapiccola B
Orphanet J Rare Dis 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. PMID: 18505544Free PMC Article
Turleau C
Orphanet J Rare Dis 2008 Feb 19;3:4. doi: 10.1186/1750-1172-3-4. PMID: 18284672Free PMC Article
Juel VC, Massey JM
Orphanet J Rare Dis 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. PMID: 17986328Free PMC Article
Satoyoshi E
Tohoku J Exp Med 1990 Aug;161 Suppl:1-19. doi: 10.1620/tjem.161.supplement_1. PMID: 2082493

Clinical prediction guides

Aksu Uzunhan T, Ertürk B, Aydın K, Ayaz A, Altunoğlu U, Yarar MH, Gezdirici A, İçağasıoğlu DF, Gökpınar İli E, Uyanık B, Eser M, Kutbay YB, Topçu Y, Kılıç B, Bektaş G, Arduç Akçay A, Ekici B, Chousein A, Avcı Ş, Yüksel A, Kayserili H
Clin Neurol Neurosurg 2023 Jan;224:107560. Epub 2022 Dec 13 doi: 10.1016/j.clineuro.2022.107560. PMID: 36580738
Keene KR, Kan HE, van der Meeren S, Verbist BM, Tannemaat MR, Beenakker JM, Verschuuren JJGM
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):2820-2834. Epub 2022 Sep 29 doi: 10.1002/jcsm.13089. PMID: 36172973Free PMC Article
Sanchez-Jimeno C, Blanco-Kelly F, López-Grondona F, Losada-Del Pozo R, Moreno B, Rodrigo-Moreno M, Martinez-Cayuelas E, Riveiro-Alvarez R, Fenollar-Cortés M, Ayuso C, Rodríguez de Alba M, Lorda-Sanchez I, Almoguera B
Genes (Basel) 2021 Aug 30;12(9) doi: 10.3390/genes12091360. PMID: 34573342Free PMC Article
Lin HY, Chen MR, Lin SM, Hung CL, Niu DM, Chang TM, Chuang CK, Lin SP
Orphanet J Rare Dis 2019 Jun 13;14(1):140. doi: 10.1186/s13023-019-1112-7. PMID: 31196149Free PMC Article
Small R
Am Fam Physician 2014 Aug 1;90(3):168-75. PMID: 25077722

Recent systematic reviews

Rizzi S, Spagnoli C, Frattini D, Pisani F, Fusco C
Behav Neurol 2022;2022:2210555. Epub 2022 Oct 11 doi: 10.1155/2022/2210555. PMID: 36268467Free PMC Article
McNickle L, Visa A, Clarke S, Yardley I, Tan YW
J Pediatr Surg 2022 Apr;57(4):661-669. Epub 2021 Jul 14 doi: 10.1016/j.jpedsurg.2021.06.016. PMID: 34311970
Hamada N, Maeda A, Takase-Minegishi K, Kirino Y, Sugiyama Y, Namkoong H, Horita N, Yoshimi R, Nakajima H; YCU irAE Working Group
Front Immunol 2021;12:803410. Epub 2021 Dec 6 doi: 10.3389/fimmu.2021.803410. PMID: 34938300Free PMC Article
Bianchi L, Gaiani F, Vincenzi F, Kayali S, Di Mario F, Leandro G, De' Angelis GL, Ruberto C
Acta Biomed 2018 Dec 17;89(9-S):153-157. doi: 10.23750/abm.v89i9-S.7911. PMID: 30561409Free PMC Article
Kulas Søborg ML, Leganger J, Rosenberg J, Burcharth J
Dig Surg 2017;34(2):161-170. Epub 2016 Dec 9 doi: 10.1159/000449106. PMID: 27931023

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