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Ashkenazi Jewish disorders

MedGen UID:
468463
Concept ID:
CN118946
Disease or Syndrome
Related genes: MCOLN1, ELP1, TGFB1, SMPD1, HEXA, GBA1, FCGR2A, FANCC, CFTR, BLM, ASPA

Professional guidelines

PubMed

Ferreira JC, Schreiber-Agus N, Carter SM, Klugman S, Gregg AR, Gross SJ
Am J Obstet Gynecol 2014 Sep;211(3):197-204. Epub 2014 Feb 5 doi: 10.1016/j.ajog.2014.02.001. PMID: 24508465

Recent clinical studies

Etiology

Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Sidransky E, Nalls MA, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER, Bar-Shira A, Berg D, Bras J, Brice A, Chen CM, Clark LN, Condroyer C, De Marco EV, Dürr A, Eblan MJ, Fahn S, Farrer MJ, Fung HC, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang AE, Lee-Chen GJ, Lesage S, Marder K, Mata IF, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira LV, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan EK, Tayebi N, Toda T, Troiano AR, Tsuji S, Wittstock M, Wolfsberg TG, Wu YR, Zabetian CP, Zhao Y, Ziegler SG
N Engl J Med 2009 Oct 22;361(17):1651-61. doi: 10.1056/NEJMoa0901281. PMID: 19846850Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Myerowitz R
Hum Mutat 1997;9(3):195-208. doi: 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID: 9090523

Diagnosis

Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S
JAMA Netw Open 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571. PMID: 37878314Free PMC Article
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Myerowitz R
Hum Mutat 1997;9(3):195-208. doi: 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID: 9090523

Therapy

Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Yang Y, Peter I, Scott SA
Drug Metabol Drug Interact 2014;29(4):221-33. doi: 10.1515/dmdi-2013-0069. PMID: 24867283Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2011 Jun 13;2011 PMID: 21663705Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Szajerka T, Jablecki J
AIDS Rev 2007 Oct-Dec;9(4):230-6. PMID: 18219366

Prognosis

Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article
Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K, Izakovic J
Int J Dermatol 2014 Jul;53(7):798-802. Epub 2014 Mar 6 doi: 10.1111/ijd.12408. PMID: 24602044
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article
Myerowitz R
Hum Mutat 1997;9(3):195-208. doi: 10.1002/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7. PMID: 9090523

Clinical prediction guides

Chen E, Facio FM, Aradhya KW, Rojahn S, Hatchell KE, Aguilar S, Ouyang K, Saitta S, Hanson-Kwan AK, Capurro NN, Takamine E, Jamuar SS, McKnight D, Johnson B, Aradhya S
JAMA Netw Open 2023 Oct 2;6(10):e2339571. doi: 10.1001/jamanetworkopen.2023.39571. PMID: 37878314Free PMC Article
Levi H, Carmi S, Rosset S, Yerushalmi R, Zick A, Yablonski-Peretz T; BCAC Consortium, Wang Q, Bolla MK, Dennis J, Michailidou K, Lush M, Ahearn T, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Augustinsson A, Auvinen P, Beane Freeman L, Beckmann M, Behrens S, Bermisheva M, Bodelon C, Bogdanova NV, Bojesen SE, Brenner H, Byers H, Camp N, Castelao J, Chang-Claude J, Chirlaque MD, Chung W, Clarke C; NBCS Collaborators, Collee MJ, Colonna S; CTS Consortium, Couch F, Cox A, Cross SS, Czene K, Daly M, Devilee P, Dork T, Dossus L, Eccles DM, Eliassen AH, Eriksson M, Evans G, Fasching P, Fletcher O, Flyger H, Fritschi L, Gabrielson M, Gago-Dominguez M, García-Closas M, Garcia-Saenz JA, Genkinger J, Giles GG, Goldberg M, Guénel P, Hall P, Hamann U, He W, Hillemanns P, Hollestelle A, Hoppe R, Hopper J; ABCTB Investigators, Jakovchevska S, Jakubowska A, Jernström H, John E, Johnson N, Jones M, Vijai J, Kaaks R, Khusnutdinova E, Kitahara C, Koutros S, Kristensen V, Kurian AW, Lacey J, Lambrechts D, Le Marchand L, Lejbkowicz F, Lindblom A, Loibl S, Lori A, Lubinski J, Mannermaa A, Manoochehri M, Mavroudis D, Menon U, Mulligan A, Murphy R, Nevelsteen I, Newman WG, Obi N, O'Brien K, Offit K, Olshan A, Plaseska-Karanfilska D, Olson J, Panico S, Park-Simon TW, Patel A, Peterlongo P, Rack B, Radice P, Rennert G, Rhenius V, Romero A, Saloustros E, Sandler D, Schmidt MK, Schwentner L, Shah M, Sharma P, Simard J, Southey M, Stone J, Tapper WJ, Taylor J, Teras L, Toland AE, Troester M, Truong T, van der Kolk LE, Weinberg C, Wendt C, Yang XR, Zheng W, Ziogas A, Dunning AM, Pharoah P, Easton DF, Ben-Sachar S, Elefant N, Shamir R, Elkon R
J Med Genet 2023 Nov 27;60(12):1186-1197. doi: 10.1136/jmg-2023-109185. PMID: 37451831Free PMC Article
Valle L, Katz LH, Latchford A, Mur P, Moreno V, Frayling IM, Heald B, Capellá G; InSiGHT Council
J Med Genet 2023 Nov;60(11):1035-1043. Epub 2023 Apr 19 doi: 10.1136/jmg-2022-108984. PMID: 37076288Free PMC Article
Sturm AC, Truty R, Callis TE, Aguilar S, Esplin ED, Garcia S, Haverfield EV, Morales A, Nussbaum RL, Rojahn S, Vatta M, Rader DJ
JAMA Cardiol 2021 Aug 1;6(8):902-909. doi: 10.1001/jamacardio.2021.1301. PMID: 34037665Free PMC Article
Tung N, Lin NU, Kidd J, Allen BA, Singh N, Wenstrup RJ, Hartman AR, Winer EP, Garber JE
J Clin Oncol 2016 May 1;34(13):1460-8. Epub 2016 Mar 14 doi: 10.1200/JCO.2015.65.0747. PMID: 26976419Free PMC Article

Recent systematic reviews

Valle L, Katz LH, Latchford A, Mur P, Moreno V, Frayling IM, Heald B, Capellá G; InSiGHT Council
J Med Genet 2023 Nov;60(11):1035-1043. Epub 2023 Apr 19 doi: 10.1136/jmg-2022-108984. PMID: 37076288Free PMC Article
Nyberg T, Tischkowitz M, Antoniou AC
Br J Cancer 2022 Apr;126(7):1067-1081. Epub 2021 Dec 28 doi: 10.1038/s41416-021-01675-5. PMID: 34963702Free PMC Article
Baretta Z, Mocellin S, Goldin E, Olopade OI, Huo D
Medicine (Baltimore) 2016 Oct;95(40):e4975. doi: 10.1097/MD.0000000000004975. PMID: 27749552Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2011 Jun 13;2011 PMID: 21663705Free PMC Article
Snaith A, Wade D
BMJ Clin Evid 2008 Sep 5;2008 PMID: 19445800Free PMC Article

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