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Cataract 38(CATC5; CTRCT38)

MedGen UID:
766408
Concept ID:
C3553494
Disease or Syndrome
Synonyms: Cataract 38, autosomal recessive; Cataract, autosomal recessive congenital 5
 
Gene (location): AGK (7q34)
 
Monarch Initiative: MONDO:0013859
OMIM®: 614691

Definition

Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene. [from MONDO]

Clinical features

From HPO
Developmental cataract
MedGen UID:
3202
Concept ID:
C0009691
Congenital Abnormality
A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens.

Professional guidelines

PubMed

Chuang LM, Tsai ST, Huang BY, Tai TY; DIABCARE (Taiwan) Study Group
Diabetes Res Clin Pract 2001 Nov;54 Suppl 1:S55-65. doi: 10.1016/s0168-8227(01)00310-2. PMID: 11580970

Recent clinical studies

Etiology

Alafaleq M, Sordello L, Bremond-Gignac D
Am J Ophthalmol 2023 Mar;247:145-151. Epub 2022 Nov 11 doi: 10.1016/j.ajo.2022.11.003. PMID: 36375586
See CW, Iftikhar M, Woreta FA
Curr Opin Ophthalmol 2019 Jan;30(1):3-8. doi: 10.1097/ICU.0000000000000535. PMID: 30489358
Park SJ, Lee JH, Kang SW, Hyon JY, Park KH
J Korean Med Sci 2016 Jun;31(6):963-71. Epub 2016 Apr 5 doi: 10.3346/jkms.2016.31.6.963. PMID: 27247507Free PMC Article
Pan CW, Cheng CY, Saw SM, Wang JJ, Wong TY
Am J Ophthalmol 2013 Nov;156(5):1021-1033.e1. Epub 2013 Aug 12 doi: 10.1016/j.ajo.2013.06.005. PMID: 23938120
Ling R, Simcock P, McCoombes J, Shaw S
Br J Ophthalmol 2003 Nov;87(11):1333-5. doi: 10.1136/bjo.87.11.1333. PMID: 14609826Free PMC Article

Diagnosis

Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
Alafaleq M, Sordello L, Bremond-Gignac D
Am J Ophthalmol 2023 Mar;247:145-151. Epub 2022 Nov 11 doi: 10.1016/j.ajo.2022.11.003. PMID: 36375586
Kumar M, Mahaseth A, Parveen S, Rafeeq U, Chauhan L
Indian J Ophthalmol 2022 Jun;70(6):2112-2116. doi: 10.4103/ijo.IJO_2510_21. PMID: 35647994Free PMC Article
See CW, Iftikhar M, Woreta FA
Curr Opin Ophthalmol 2019 Jan;30(1):3-8. doi: 10.1097/ICU.0000000000000535. PMID: 30489358
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A
Turk J Gastroenterol 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. PMID: 30457558Free PMC Article

Therapy

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Park J, Rittiphairoj T, Wang X, E JY, Bicket AK
Cochrane Database Syst Rev 2023 Mar 13;3(3):CD010472. doi: 10.1002/14651858.CD010472.pub3. PMID: 36912740Free PMC Article
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article
Reeder JG, Vogel VG
Clin Breast Cancer 2007 Dec;7(11):833-40. doi: 10.3816/CBC.2007.n.047. PMID: 18269772

Prognosis

Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Papaliodis GN, Rosner BA, Dreger KA, Fitzgerald TD, Artornsombudh P, Kothari S, Gangaputra SS, Levy-Clarke GA, Nussenblatt RB, Rosenbaum JT, Sen HN, Suhler EB, Thorne JE, Bhatt NP, Foster CS, Jabs DA, Pak CM, Ying GS, Kempen JH; Systemic Immunosuppressive Therapy for Eye Diseases (SITE) Cohort Study Research Group
Am J Ophthalmol 2023 Oct;254:221-232. Epub 2023 Jul 5 doi: 10.1016/j.ajo.2023.06.021. PMID: 37414328Free PMC Article
Bullimore MA, Ritchey ER, Shah S, Leveziel N, Bourne RRA, Flitcroft DI
Ophthalmology 2021 Nov;128(11):1561-1579. Epub 2021 May 4 doi: 10.1016/j.ophtha.2021.04.032. PMID: 33961969
See CW, Iftikhar M, Woreta FA
Curr Opin Ophthalmol 2019 Jan;30(1):3-8. doi: 10.1097/ICU.0000000000000535. PMID: 30489358
Assi A, Abdelmassih Y, El-Khoury S
Retina 2018 Feb;38(2):320-324. doi: 10.1097/IAE.0000000000001568. PMID: 28221258

Clinical prediction guides

Mikami-Saito Y, Wada Y, Arai-Ichinoi N, Nakajima Y, Suzuki-Ajihara S, Murayama K, Tanaka T, Numakura C, Hamazaki T, Igarashi N, Esaki H, Kagawa R, Kono T, Sawada T, Sawada T, Nyuzuki H, Hirai H, Fumoto S, Matsuda J, Matsunaga A, Maruyama S, Yamaguchi K, Yoshino M, Totsune E, Kikuchi A, Ohura T, Kure S
Genet Med 2024 Aug;26(8):101165. Epub 2024 May 16 doi: 10.1016/j.gim.2024.101165. PMID: 38762772
Feng J, Huang C, Liang L, Li C, Wang X, Ma J, Guan X, Jiang B, Huang S, Qin P
J Am Med Dir Assoc 2023 Sep;24(9):1363-1373.e6. Epub 2023 Jul 29 doi: 10.1016/j.jamda.2023.06.025. PMID: 37527793
Maroofian R, Kaiyrzhanov R, Cali E, Zamani M, Zaki MS, Ferla M, Tortora D, Sadeghian S, Saadi SM, Abdullah U, Karimiani EG, Efthymiou S, Yeşil G, Alavi S, Al Shamsi AM, Tajsharghi H, Abdel-Hamid MS, Saadi NW, Al Mutairi F, Alabdi L, Beetz C, Ali Z, Toosi MB, Rudnik-Schöneborn S, Babaei M, Isohanni P, Muhammad J, Khan S, Al Shalan M, Hickey SE, Marom D, Elhanan E, Kurian MA, Marafi D, Saberi A, Hamid M, Spaull R, Meng L, Lalani S, Maqbool S, Rahman F, Seeger J, Palculict TB, Lau T, Murphy D, Mencacci NE, Steindl K, Begemann A, Rauch A, Akbas S, Aslanger AD, Salpietro V, Yousaf H, Ben-Shachar S, Ejeskär K, Al Aqeel AI, High FA, Armstrong-Javors AE, Zahraei SM, Seifi T, Zeighami J, Shariati G, Sedaghat A, Asl SN, Shahrooei M, Zifarelli G, Burglen L, Ravelli C, Zschocke J, Schatz UA, Ghavideldarestani M, Kamel WA, Van Esch H, Hackenberg A, Taylor JC, Al-Gazali L, Bauer P, Gleeson JJ, Alkuraya FS, Lupski JR, Galehdari H, Azizimalamiri R, Chung WK, Baig SM, Houlden H, Severino M
Brain 2023 Dec 1;146(12):5031-5043. doi: 10.1093/brain/awad257. PMID: 37517035Free PMC Article
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Reeder JG, Vogel VG
Clin Breast Cancer 2007 Dec;7(11):833-40. doi: 10.3816/CBC.2007.n.047. PMID: 18269772

Recent systematic reviews

Park J, Rittiphairoj T, Wang X, E JY, Bicket AK
Cochrane Database Syst Rev 2023 Mar 13;3(3):CD010472. doi: 10.1002/14651858.CD010472.pub3. PMID: 36912740Free PMC Article
Liu SH, Saldanha IJ, Abraham AG, Rittiphairoj T, Hauswirth S, Gregory D, Ifantides C, Li T
Cochrane Database Syst Rev 2022 Oct 21;10(10):CD015070. doi: 10.1002/14651858.CD015070.pub2. PMID: 36269562Free PMC Article
Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Flaxman SR, Bourne RRA, Resnikoff S, Ackland P, Braithwaite T, Cicinelli MV, Das A, Jonas JB, Keeffe J, Kempen JH, Leasher J, Limburg H, Naidoo K, Pesudovs K, Silvester A, Stevens GA, Tahhan N, Wong TY, Taylor HR; Vision Loss Expert Group of the Global Burden of Disease Study
Lancet Glob Health 2017 Dec;5(12):e1221-e1234. Epub 2017 Oct 11 doi: 10.1016/S2214-109X(17)30393-5. PMID: 29032195
Gillespie LD, Robertson MC, Gillespie WJ, Sherrington C, Gates S, Clemson LM, Lamb SE
Cochrane Database Syst Rev 2012 Sep 12;2012(9):CD007146. doi: 10.1002/14651858.CD007146.pub3. PMID: 22972103Free PMC Article

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