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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
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
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
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

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
Monticciolo DL, Newell MS, Moy L, Niell B, Monsees B, Sickles EA
J Am Coll Radiol 2018 Mar;15(3 Pt A):408-414. Epub 2018 Jan 19 doi: 10.1016/j.jacr.2017.11.034. PMID: 29371086
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
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

Gettler K, Levantovsky R, Moscati A, Giri M, Wu Y, Hsu NY, Chuang LS, Sazonovs A, Venkateswaran S, Korie U, Chasteau C; UK IBD Genetics Consortium, National Institute of Diabetes, Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium, Duerr RH, Silverberg MS, Snapper SB, Daly MJ, McGovern DP, Brant SR, Rioux JD, Kugathasan S, Anderson CA, Itan Y, Cho JH
Gastroenterology 2021 Apr;160(5):1546-1557. Epub 2020 Dec 24 doi: 10.1053/j.gastro.2020.12.034. PMID: 33359885Free 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
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

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
King MC, Marks JH, Mandell JB; New York Breast Cancer Study Group
Science 2003 Oct 24;302(5645):643-6. doi: 10.1126/science.1088759. PMID: 14576434
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

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
Gettler K, Levantovsky R, Moscati A, Giri M, Wu Y, Hsu NY, Chuang LS, Sazonovs A, Venkateswaran S, Korie U, Chasteau C; UK IBD Genetics Consortium, National Institute of Diabetes, Digestive and Kidney Diseases Inflammatory Bowel Disease Genetics Consortium, Duerr RH, Silverberg MS, Snapper SB, Daly MJ, McGovern DP, Brant SR, Rioux JD, Kugathasan S, Anderson CA, Itan Y, Cho JH
Gastroenterology 2021 Apr;160(5):1546-1557. Epub 2020 Dec 24 doi: 10.1053/j.gastro.2020.12.034. PMID: 33359885Free 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
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

Recent systematic reviews

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
Lew RM, Burnett L, Proos AL, Barlow-Stewart K, Delatycki MB, Bankier A, Aizenberg H, Field MJ, Berman Y, Fleischer R, Fietz M
J Paediatr Child Health 2015 Mar;51(3):271-9. Epub 2014 Jun 13 doi: 10.1111/jpc.12632. PMID: 24923490
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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