U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Founder Mutation

MedGen UID:
457661
Concept ID:
C2985435
Cell or Molecular Dysfunction

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFounder Mutation

Professional guidelines

PubMed

Laish I, Goldberg Y, Friedman E, Kedar I, Katz L, Levi Z, Gingold-Belfer R, Kopylov U, Feldman D, Levi-Reznick G, Half E
Dig Liver Dis 2021 Dec;53(12):1640-1646. Epub 2021 Jun 18 doi: 10.1016/j.dld.2021.05.031. PMID: 34148862
Buhler VMM, Berger L, Schaller A, Zinkernagel MS, Wolf S, Escher P
Genes (Basel) 2021 May 26;12(6) doi: 10.3390/genes12060812. PMID: 34073554Free PMC Article
Alswailem MM, Alzahrani OS, Alghofaili L, Qasem E, Almohanaa M, Alsagheir A, Bin Abbas B, Attia NA, Al Shaikh A, Alzahrani AS
Endocrine 2019 Feb;63(2):361-368. Epub 2018 Sep 29 doi: 10.1007/s12020-018-1767-1. PMID: 30269266

Recent clinical studies

Etiology

Pinto EM, Fridman C, Figueiredo BC, Salvador H, Teixeira MR, Pinto C, Pinheiro M, Kratz CP, Lavarino C, Legal EAMF, Le A, Kelly G, Koeppe E, Stoffel EM, Breen K, Hahner S, Heinze B, Techavichit P, Krause A, Ogata T, Fujisawa Y, Walsh MF, Rana HQ, Maxwell KN, Garber JE, Rodriguez-Galindo C, Ribeiro RC, Zambetti GP
HGG Adv 2024 Jan 11;5(1):100244. Epub 2023 Oct 4 doi: 10.1016/j.xhgg.2023.100244. PMID: 37794678Free PMC Article
Smyth N, Ramsay M, Raal FJ
Curr Opin Lipidol 2018 Apr;29(2):72-79. doi: 10.1097/MOL.0000000000000488. PMID: 29369830
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425
Van Cott EM, Khor B, Zehnder JL
Am J Hematol 2016 Jan;91(1):46-9. Epub 2015 Nov 17 doi: 10.1002/ajh.24222. PMID: 26492443
Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH
Am J Hum Genet 2000 Oct;67(4):800-13. Epub 2000 Aug 24 doi: 10.1086/303090. PMID: 10958763Free PMC Article

Diagnosis

Menon V, Brash DE
Mutat Res Rev Mutat Res 2023 Jul-Dec;792:108471. Epub 2023 Sep 15 doi: 10.1016/j.mrrev.2023.108471. PMID: 37716438Free PMC Article
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E
Front Immunol 2023;14:1190104. Epub 2023 Aug 4 doi: 10.3389/fimmu.2023.1190104. PMID: 37600812Free PMC Article
Smyth N, Ramsay M, Raal FJ
Curr Opin Lipidol 2018 Apr;29(2):72-79. doi: 10.1097/MOL.0000000000000488. PMID: 29369830
Romdhane L, Messaoud O, Bouyacoub Y, Kerkeni E, Naouali C, Cherif Ben Abdallah L, Tiar A, Charfeddine C, Monastiri K, Chabchoub I, Hachicha M, Tadmouri GO, Romeo G, Abdelhak S
Clin Genet 2016 Mar;89(3):312-9. Epub 2015 Jun 10 doi: 10.1111/cge.12616. PMID: 26010040
Rivera A, White K, Stöhr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH
Am J Hum Genet 2000 Oct;67(4):800-13. Epub 2000 Aug 24 doi: 10.1086/303090. PMID: 10958763Free PMC Article

Therapy

Lee CT, Tsai WH, Chang CC, Chen PC, Fann CS, Chang HK, Liu SY, Wu MZ, Chiu PC, Hsu WM, Yang WS, Lai LP, Tsai WY, Yang SB, Chen PL
Front Endocrinol (Lausanne) 2023;14:1283907. Epub 2023 Nov 16 doi: 10.3389/fendo.2023.1283907. PMID: 38033998Free PMC Article
Lee NC, Chien YH, Hwu WL
Am J Med Genet C Semin Med Genet 2019 Jun;181(2):226-229. Epub 2019 Jan 7 doi: 10.1002/ajmg.c.31670. PMID: 30614627
Pastorczak A, Szczepanski T, Mlynarski W; International Berlin-Frankfurt-Munster (I-BFM) ALL host genetic variation working group
Eur J Med Genet 2016 Mar;59(3):126-32. Epub 2016 Jan 27 doi: 10.1016/j.ejmg.2016.01.007. PMID: 26826318
Van Cott EM, Khor B, Zehnder JL
Am J Hematol 2016 Jan;91(1):46-9. Epub 2015 Nov 17 doi: 10.1002/ajh.24222. PMID: 26492443
Suzuki Y, Yang X, Aoki Y, Kure S, Matsubara Y
Hum Mutat 2005 Oct;26(4):285-90. doi: 10.1002/humu.20204. PMID: 16134170

Prognosis

Menon V, Brash DE
Mutat Res Rev Mutat Res 2023 Jul-Dec;792:108471. Epub 2023 Sep 15 doi: 10.1016/j.mrrev.2023.108471. PMID: 37716438Free PMC Article
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R
J Am Soc Nephrol 2022 Apr;33(4):732-745. Epub 2022 Feb 11 doi: 10.1681/ASN.2021101312. PMID: 35149593Free PMC Article
Schatz P, Abdalla Elsayed MEA, Khan AO
Ophthalmic Genet 2017 Sep-Oct;38(5):459-464. Epub 2017 Mar 1 doi: 10.1080/13816810.2017.1289543. PMID: 28635425
Achatz MI, Zambetti GP
Cold Spring Harb Perspect Med 2016 Dec 1;6(12) doi: 10.1101/cshperspect.a026195. PMID: 27663983Free PMC Article
Chrzanowska KH, Gregorek H, Dembowska-Bagińska B, Kalina MA, Digweed M
Orphanet J Rare Dis 2012 Feb 28;7:13. doi: 10.1186/1750-1172-7-13. PMID: 22373003Free PMC Article

Clinical prediction guides

Menon V, Brash DE
Mutat Res Rev Mutat Res 2023 Jul-Dec;792:108471. Epub 2023 Sep 15 doi: 10.1016/j.mrrev.2023.108471. PMID: 37716438Free PMC Article
Papendorf JJ, Ebstein F, Alehashemi S, Piotto DGP, Kozlova A, Terreri MT, Shcherbina A, Rastegar A, Rodrigues M, Pereira R, Park S, Lin B, Uss K, Möller S, da Silva Pina AF, Sztajnbok F, Torreggiani S, Niemela J, Stoddard J, Rosenzweig SD, Oler AJ, McNinch C, de Guzman MM, Fonseca A, Micheloni N, Fraga MM, Perazzio SF, Goldbach-Mansky R, de Jesus AA, Krüger E
Front Immunol 2023;14:1190104. Epub 2023 Aug 4 doi: 10.3389/fimmu.2023.1190104. PMID: 37600812Free PMC Article
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R
J Am Soc Nephrol 2022 Apr;33(4):732-745. Epub 2022 Feb 11 doi: 10.1681/ASN.2021101312. PMID: 35149593Free PMC Article
Ando M, Higuchi Y, Okamoto Y, Yuan J, Yoshimura A, Takei J, Taniguchi T, Hiramatsu Y, Sakiyama Y, Hashiguchi A, Matsuura E, Nakagawa H, Sonoda K, Yamashita T, Tamura A, Terasawa H, Mitsui J, Ishiura H, Tsuji S, Takashima H
J Hum Genet 2022 Jul;67(7):399-403. Epub 2022 Jan 28 doi: 10.1038/s10038-022-01019-y. PMID: 35091664
Sieliwonczyk E, Alaerts M, Robyns T, Schepers D, Claes C, Corveleyn A, Willems R, Van Craenenbroeck EM, Simons E, Nijak A, Vandendriessche B, Mortier G, Vrints C, Koopman P, Heidbuchel H, Van Laer L, Saenen J, Loeys B
Europace 2021 Jun 7;23(6):918-927. doi: 10.1093/europace/euaa305. PMID: 33221854

Recent systematic reviews

Manyisa N, Adadey SM, Wonkam-Tingang E, Yalcouye A, Wonkam A
OMICS 2022 Jan;26(1):2-18. doi: 10.1089/omi.2021.0181. PMID: 35041532Free PMC Article
Kharel S, Shrestha S, Yadav S, Shakya P, Baidya S, Hirachan S
J Int Med Res 2022 Jan;50(1):3000605211070757. doi: 10.1177/03000605211070757. PMID: 35000471Free PMC Article
Fachal L, Gómez-Caamaño A, Celeiro-Muñoz C, Peleteiro P, Blanco A, Carballo A, Forteza J, Carracedo A, Vega A
Prostate 2011 Dec;71(16):1768-79. Epub 2011 Apr 25 doi: 10.1002/pros.21394. PMID: 21520156

Supplemental Content

Table of contents

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...