U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Not genetically inherited

MedGen UID:
988794
Concept ID:
CN307044
Finding
Synonym: not genetically inherited
 
Orphanet: ORPHA409941

Definition

clinical entity without genetic inheritance. [from ORDO]

Recent clinical studies

Etiology

Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304Free PMC Article
Dowling JJ, Weihl CC, Spencer MJ
Nat Rev Mol Cell Biol 2021 Nov;22(11):713-732. Epub 2021 Jul 13 doi: 10.1038/s41580-021-00389-z. PMID: 34257452
McMacken G, Whittaker RG, Charlton R, Barresi R, Lochmüller H, Horvath R
Eur J Neurol 2021 Jan;28(1):297-304. Epub 2020 Sep 26 doi: 10.1111/ene.14514. PMID: 32909314
Deshpande SS, Nemani H, Pothani S, Khambata K, Kumar A, Kallamadi PR, Balasinor NH
Endocrinology 2019 Jan 1;160(1):220-234. doi: 10.1210/en.2018-00569. PMID: 30496384
Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY
Eur Radiol 2018 Dec;28(12):5293-5303. Epub 2018 May 25 doi: 10.1007/s00330-018-5472-5. PMID: 29802573

Diagnosis

Wiedemann A, Oussalah A, Lamireau N, Théron M, Julien M, Mergnac JP, Augay B, Deniaud P, Alix T, Frayssinoux M, Feillet F, Guéant JL
Cell Rep Med 2022 Jul 19;3(7):100670. Epub 2022 Jun 27 doi: 10.1016/j.xcrm.2022.100670. PMID: 35764087Free PMC Article
Stephenson KAJ, Zhu J, Dockery A, Whelan L, Burke T, Turner J, O'Byrne JJ, Farrar GJ, Keegan DJ
Int J Mol Sci 2022 Jan 17;23(2) doi: 10.3390/ijms23020995. PMID: 35055178Free PMC Article
McMacken G, Whittaker RG, Charlton R, Barresi R, Lochmüller H, Horvath R
Eur J Neurol 2021 Jan;28(1):297-304. Epub 2020 Sep 26 doi: 10.1111/ene.14514. PMID: 32909314
Tordjman M, Dabaj I, Laforet P, Felter A, Ferreiro A, Biyoukar M, Law-Ye B, Zanoteli E, Castiglioni C, Rendu J, Beroud C, Chamouni A, Richard P, Mompoint D, Quijano-Roy S, Carlier RY
Eur Radiol 2018 Dec;28(12):5293-5303. Epub 2018 May 25 doi: 10.1007/s00330-018-5472-5. PMID: 29802573
Bullich G, Domingo-Gallego A, Vargas I, Ruiz P, Lorente-Grandoso L, Furlano M, Fraga G, Madrid Á, Ariceta G, Borregán M, Piñero-Fernández JA, Rodríguez-Peña L, Ballesta-Martínez MJ, Llano-Rivas I, Meñica MA, Ballarín J, Torrents D, Torra R, Ars E
Kidney Int 2018 Aug;94(2):363-371. Epub 2018 May 22 doi: 10.1016/j.kint.2018.02.027. PMID: 29801666

Therapy

Zhu J, Stephenson KAJ, Dockery A, Turner J, O'Byrne JJ, Fitzsimon S, Farrar GJ, Flitcroft DI, Keegan DJ
Genes (Basel) 2022 Mar 29;13(4) doi: 10.3390/genes13040615. PMID: 35456422Free PMC Article
Stavrou M, Sargiannidou I, Georgiou E, Kagiava A, Kleopa KA
Int J Mol Sci 2021 Jun 3;22(11) doi: 10.3390/ijms22116048. PMID: 34205075Free PMC Article
Fujinami-Yokokawa Y, Ninomiya H, Liu X, Yang L, Pontikos N, Yoshitake K, Iwata T, Sato Y, Hashimoto T, Tsunoda K, Miyata H, Fujinami K; Japan Eye Genetics Study (JEGC) Group.
Br J Ophthalmol 2021 Sep;105(9):1272-1279. Epub 2021 Apr 20 doi: 10.1136/bjophthalmol-2020-318544. PMID: 33879469Free PMC Article
Thapar A, Rice F
Cold Spring Harb Perspect Med 2021 Mar 1;11(3) doi: 10.1101/cshperspect.a038877. PMID: 32152247Free PMC Article
Deshpande SS, Nemani H, Pothani S, Khambata K, Kumar A, Kallamadi PR, Balasinor NH
Endocrinology 2019 Jan 1;160(1):220-234. doi: 10.1210/en.2018-00569. PMID: 30496384

Prognosis

Dockery A, Whelan L, Humphries P, Farrar GJ
Int J Mol Sci 2021 May 26;22(11) doi: 10.3390/ijms22115684. PMID: 34073611Free PMC Article
McMacken G, Whittaker RG, Charlton R, Barresi R, Lochmüller H, Horvath R
Eur J Neurol 2021 Jan;28(1):297-304. Epub 2020 Sep 26 doi: 10.1111/ene.14514. PMID: 32909314
Casey R, Neumann HPH, Maher ER
Hum Mol Genet 2020 Oct 20;29(R2):R128-R137. doi: 10.1093/hmg/ddaa201. PMID: 33059362Free PMC Article
Zuazo F, Dumitrescu AV
Ophthalmic Genet 2018 Oct;39(5):631-636. Epub 2018 Aug 29 doi: 10.1080/13816810.2018.1498530. PMID: 30156925
Houlden H, Reilly MM, Smith S
Eye (Lond) 2009 Apr;23(4):966-74. Epub 2008 Jul 18 doi: 10.1038/eye.2008.221. PMID: 18636082

Clinical prediction guides

Williams KM, Georgiou M, Kalitzeos A, Chow I, Hysi PG, Robson AG, Lingham G, Chen FK, Mackey DA, Webster AR, Hammond CJ, Prokhoda P, Carroll J, Michaelides M, Mahroo OA
Invest Ophthalmol Vis Sci 2022 Jun 1;63(6):15. doi: 10.1167/iovs.63.6.15. PMID: 35704304Free PMC Article
Marques JP, Marta A, Geada S, Carvalho AL, Menéres P, Murta J, Saraiva J, Silva R
Ophthalmologica 2022;245(2):134-143. Epub 2021 Oct 25 doi: 10.1159/000520305. PMID: 34695833
Bis-Brewer DM, Gan-Or Z, Sleiman P; Inherited Neuropathy Consortium., Hakonarson H, Fazal S, Courel S, Cintra V, Tao F, Estiar MA, Tarnopolsky M, Boycott KM, Yoon G, Suchowersky O, Dupré N, Cheng A, Lloyd TE, Rouleau G, Schüle R, Züchner S
Genet Med 2020 Dec;22(12):2114-2119. Epub 2020 Aug 3 doi: 10.1038/s41436-020-0924-0. PMID: 32741968Free PMC Article
Deshpande SS, Nemani H, Pothani S, Khambata K, Kumar A, Kallamadi PR, Balasinor NH
Endocrinology 2019 Jan 1;160(1):220-234. doi: 10.1210/en.2018-00569. PMID: 30496384
Okten RS, Kucukay F, Tola M, Bostanci B, Cumhur T
Eur J Radiol 2012 Jun;81(6):1089-93. Epub 2011 Mar 21 doi: 10.1016/j.ejrad.2011.02.064. PMID: 21420816

Recent systematic reviews

Ontario Health (Quality) .
Ont Health Technol Assess Ser 2022;22(3):1-155. Epub 2022 Aug 23 PMID: 36158868Free PMC Article
Sallum JMF, Kaur VP, Shaikh J, Banhazi J, Spera C, Aouadj C, Viriato D, Fischer MD
Adv Ther 2022 Mar;39(3):1179-1198. Epub 2022 Jan 30 doi: 10.1007/s12325-021-02036-7. PMID: 35098484Free PMC Article
Woolner AMF, Nagdeve P, Raja EA, Bhattacharya S, Bhattacharya S
Acta Obstet Gynecol Scand 2020 Dec;99(12):1584-1594. Epub 2020 Jul 9 doi: 10.1111/aogs.13940. PMID: 32557529
Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA
Epileptic Disord 2019 Feb 1;21(1):30-41. doi: 10.1684/epd.2019.1024. PMID: 30767897
Ahmad MM, Kiani IA, Ammar KA, Ahmad MN, Khandheria BK, Paterick TE, Jain R, Tajik AJ
Cardiol Rev 2017 Nov/Dec;25(6):268-278. doi: 10.1097/CRD.0000000000000146. PMID: 28984667

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center