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Car factor deficiency

MedGen UID:
354615
Concept ID:
C1861898
Disease or Syndrome
Synonyms: Car Factor Deficiency; Car. Factor Deficiency
 
Monarch Initiative: MONDO:0007260
OMIM®: 114650

Clinical features

From HPO
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.

Professional guidelines

PubMed

Li X, Sun S, Zhang W, Liang Z, Fang Y, Sun T, Wan Y, Ma X, Zhang S, Xu Y, Tian R
J Exp Clin Cancer Res 2024 Apr 1;43(1):95. doi: 10.1186/s13046-024-03027-6. PMID: 38561797Free PMC Article
Caruso S, De Angelis B, Del Bufalo F, Ciccone R, Donsante S, Volpe G, Manni S, Guercio M, Pezzella M, Iaffaldano L, Silvestris DA, Sinibaldi M, Di Cecca S, Pitisci A, Velardi E, Merli P, Algeri M, Lodi M, Paganelli V, Serafini M, Riminucci M, Locatelli F, Quintarelli C
J Hematol Oncol 2022 Nov 5;15(1):163. doi: 10.1186/s13045-022-01376-3. PMID: 36335396Free PMC Article

Recent clinical studies

Etiology

Robbins R, Quan SF, Weaver MD, Bormes G, Barger LK, Czeisler CA
Aging (Albany NY) 2021 Feb 11;13(3):3254-3268. doi: 10.18632/aging.202591. PMID: 33570509Free PMC Article
Chen J, López-Moyado IF, Seo H, Lio CJ, Hempleman LJ, Sekiya T, Yoshimura A, Scott-Browne JP, Rao A
Nature 2019 Mar;567(7749):530-534. Epub 2019 Feb 27 doi: 10.1038/s41586-019-0985-x. PMID: 30814732Free PMC Article
GBD 2016 Disease and Injury Incidence and Prevalence Collaborators
Lancet 2017 Sep 16;390(10100):1211-1259. doi: 10.1016/S0140-6736(17)32154-2. PMID: 28919117Free PMC Article
Owens JA, Weiss MR
Minerva Pediatr 2017 Aug;69(4):326-336. Epub 2017 Feb 17 doi: 10.23736/S0026-4946.17.04914-3. PMID: 28211649
Peterlik M, Grant WB, Cross HS
Anticancer Res 2009 Sep;29(9):3687-98. PMID: 19667166

Diagnosis

Freitas KA, Belk JA, Sotillo E, Quinn PJ, Ramello MC, Malipatlolla M, Daniel B, Sandor K, Klysz D, Bjelajac J, Xu P, Burdsall KA, Tieu V, Duong VT, Donovan MG, Weber EW, Chang HY, Majzner RG, Espinosa JM, Satpathy AT, Mackall CL
Science 2022 Nov 11;378(6620):eabn5647. doi: 10.1126/science.abn5647. PMID: 36356142Free PMC Article
Carnevale J, Shifrut E, Kale N, Nyberg WA, Blaeschke F, Chen YY, Li Z, Bapat SP, Diolaiti ME, O'Leary P, Vedova S, Belk J, Daniel B, Roth TL, Bachl S, Anido AA, Prinzing B, Ibañez-Vega J, Lange S, Haydar D, Luetke-Eversloh M, Born-Bony M, Hegde B, Kogan S, Feuchtinger T, Okada H, Satpathy AT, Shannon K, Gottschalk S, Eyquem J, Krenciute G, Ashworth A, Marson A
Nature 2022 Sep;609(7925):174-182. Epub 2022 Aug 24 doi: 10.1038/s41586-022-05126-w. PMID: 36002574Free PMC Article
Grijalvo S, Díaz DD
Neurochem Int 2021 Jul;147:105005. Epub 2021 Mar 3 doi: 10.1016/j.neuint.2021.105005. PMID: 33667593
Richmond E, Rogol AD
Endocrine 2014 Feb;45(1):3-8. Epub 2013 Sep 13 doi: 10.1007/s12020-013-0049-1. PMID: 24030696
Peterlik M, Grant WB, Cross HS
Anticancer Res 2009 Sep;29(9):3687-98. PMID: 19667166

Therapy

Jung IY, Narayan V, McDonald S, Rech AJ, Bartoszek R, Hong G, Davis MM, Xu J, Boesteanu AC, Barber-Rotenberg JS, Plesa G, Lacey SF, Jadlowsky JK, Siegel DL, Hammill DM, Cho-Park PF, Berger SL, Haas NB, Fraietta JA
Sci Transl Med 2022 Nov 9;14(670):eabn7336. doi: 10.1126/scitranslmed.abn7336. PMID: 36350986Free PMC Article
Caruso S, De Angelis B, Del Bufalo F, Ciccone R, Donsante S, Volpe G, Manni S, Guercio M, Pezzella M, Iaffaldano L, Silvestris DA, Sinibaldi M, Di Cecca S, Pitisci A, Velardi E, Merli P, Algeri M, Lodi M, Paganelli V, Serafini M, Riminucci M, Locatelli F, Quintarelli C
J Hematol Oncol 2022 Nov 5;15(1):163. doi: 10.1186/s13045-022-01376-3. PMID: 36335396Free PMC Article
Sun S, Ding Z, Yang X, Zhao X, Zhao M, Gao L, Chen Q, Xie S, Liu A, Yin S, Xu Z, Lu X
Int J Nanomedicine 2021;16:2337-2356. Epub 2021 Mar 22 doi: 10.2147/IJN.S297631. PMID: 33790553Free PMC Article
Mendell JR, Al-Zaidy SA, Rodino-Klapac LR, Goodspeed K, Gray SJ, Kay CN, Boye SL, Boye SE, George LA, Salabarria S, Corti M, Byrne BJ, Tremblay JP
Mol Ther 2021 Feb 3;29(2):464-488. Epub 2020 Dec 10 doi: 10.1016/j.ymthe.2020.12.007. PMID: 33309881Free PMC Article
Sterner RM, Sakemura R, Cox MJ, Yang N, Khadka RH, Forsman CL, Hansen MJ, Jin F, Ayasoufi K, Hefazi M, Schick KJ, Walters DK, Ahmed O, Chappell D, Sahmoud T, Durrant C, Nevala WK, Patnaik MM, Pease LR, Hedin KE, Kay NE, Johnson AJ, Kenderian SS
Blood 2019 Feb 14;133(7):697-709. Epub 2018 Nov 21 doi: 10.1182/blood-2018-10-881722. PMID: 30463995Free PMC Article

Prognosis

Stergiopoulos GM, Iankov I, Galanis E
Mol Diagn Ther 2024 Mar;28(2):153-168. Epub 2023 Dec 27 doi: 10.1007/s40291-023-00689-4. PMID: 38150172
Verma N, Singh S, Singh M, Chauhan A, Pradhan P, Jaiswal N, Chakrabarti A, Singh M
Mycoses 2022 Mar;65(3):266-284. Epub 2021 Dec 5 doi: 10.1111/myc.13387. PMID: 34724269
Zhu Y, Zhu X, Tang C, Guan X, Zhang W
Biochim Biophys Acta Rev Cancer 2021 Dec;1876(2):188593. Epub 2021 Jul 17 doi: 10.1016/j.bbcan.2021.188593. PMID: 34280474
Chen J, López-Moyado IF, Seo H, Lio CJ, Hempleman LJ, Sekiya T, Yoshimura A, Scott-Browne JP, Rao A
Nature 2019 Mar;567(7749):530-534. Epub 2019 Feb 27 doi: 10.1038/s41586-019-0985-x. PMID: 30814732Free PMC Article
GBD 2016 Disease and Injury Incidence and Prevalence Collaborators
Lancet 2017 Sep 16;390(10100):1211-1259. doi: 10.1016/S0140-6736(17)32154-2. PMID: 28919117Free PMC Article

Clinical prediction guides

Stergiopoulos GM, Iankov I, Galanis E
Mol Diagn Ther 2024 Mar;28(2):153-168. Epub 2023 Dec 27 doi: 10.1007/s40291-023-00689-4. PMID: 38150172
Nath K, Tomas AA, Flynn J, Fein JA, Alperovich A, Anagnostou T, Batlevi CL, Dahi PB, Fingrut WB, Giralt SA, Lin RJ, Palomba ML, Peled JU, Salles G, Sauter CS, Scordo M, Fraint E, Feuer E, Shah N, Slingerland JB, Devlin S, Shah GL, Gupta G, Perales MA, Shouval R
Transplant Cell Ther 2022 Nov;28(11):751.e1-751.e7. Epub 2022 Aug 6 doi: 10.1016/j.jtct.2022.08.001. PMID: 35944603Free PMC Article
Verma N, Singh S, Singh M, Chauhan A, Pradhan P, Jaiswal N, Chakrabarti A, Singh M
Mycoses 2022 Mar;65(3):266-284. Epub 2021 Dec 5 doi: 10.1111/myc.13387. PMID: 34724269
Zhu Y, Zhu X, Tang C, Guan X, Zhang W
Biochim Biophys Acta Rev Cancer 2021 Dec;1876(2):188593. Epub 2021 Jul 17 doi: 10.1016/j.bbcan.2021.188593. PMID: 34280474
Rosen MB, Das KP, Rooney J, Abbott B, Lau C, Corton JC
Toxicology 2017 Jul 15;387:95-107. Epub 2017 May 27 doi: 10.1016/j.tox.2017.05.013. PMID: 28558994Free PMC Article

Recent systematic reviews

Verma N, Singh S, Singh M, Chauhan A, Pradhan P, Jaiswal N, Chakrabarti A, Singh M
Mycoses 2022 Mar;65(3):266-284. Epub 2021 Dec 5 doi: 10.1111/myc.13387. PMID: 34724269

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