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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

Vision Loss Expert Group of the Global Burden of Disease Study; GBD 2019 Blindness and Vision Impairment Collaborators
Eye (Lond) 2024 Aug;38(11):2156-2172. doi: 10.1038/s41433-024-02961-1. PMID: 38461217Free PMC Article
Mrugacz M, Pony-Uram M, Bryl A, Zorena K
Int J Mol Sci 2023 Mar 28;24(7) doi: 10.3390/ijms24076317. PMID: 37047290Free PMC Article
Harvey PT
Gerontology 2003 Jan-Feb;49(1):1-11. doi: 10.1159/000066507. PMID: 12457044
Taylor A, Nowell T
Adv Pharmacol 1997;38:515-36. doi: 10.1016/s1054-3589(08)60997-7. PMID: 8895822
Thylefors B, Négrel AD, Pararajasegaram R, Dadzie KY
Bull World Health Organ 1995;73(1):115-21. PMID: 7704921Free PMC Article

Diagnosis

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
Khokhar S, Gupta S, Tewari R, Agarwal R, Gogia V, Sinha G, Agarwal T
Indian J Ophthalmol 2016 Apr;64(4):320-2. doi: 10.4103/0301-4738.182949. PMID: 27221687Free PMC Article
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA
J Inherit Metab Dis 2015 Jan;38(1):99-110. Epub 2014 Sep 2 doi: 10.1007/s10545-014-9759-7. PMID: 25178427
Harvey PT
Gerontology 2003 Jan-Feb;49(1):1-11. doi: 10.1159/000066507. PMID: 12457044
Lindsley CB, Petty RE
Curr Rheumatol Rep 2000 Aug;2(4):343-8. doi: 10.1007/s11926-000-0073-z. PMID: 11123081

Therapy

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
Smith AF, Klotz A, Wormstone IM
Drug Discov Today 2016 Mar;21(3):510-6. Epub 2016 Jan 8 doi: 10.1016/j.drudis.2016.01.001. PMID: 26775751
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
Vogel VG
Oncology (Williston Park) 2008 May;22(6):666-73; discussion 679, 682, 684. PMID: 18561555
Jampel HD, Lubomski LH, Friedman DS, Robinson KA, Congdon N, Quigley HA, Levkovitch-Verbin H, Kempen J, Bass EB
Evid Rep Technol Assess (Summ) 2001 Jun;(38):1-3. PMID: 11488137Free PMC Article

Prognosis

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
Skinner C, Miraldi Utz V
Ophthalmic Genet 2017 May-Jun;38(3):201-205. Epub 2016 Sep 20 doi: 10.1080/13816810.2016.1214971. PMID: 27648776
Khokhar S, Gupta S, Tewari R, Agarwal R, Gogia V, Sinha G, Agarwal T
Indian J Ophthalmol 2016 Apr;64(4):320-2. doi: 10.4103/0301-4738.182949. PMID: 27221687Free PMC Article
Smith AF, Klotz A, Wormstone IM
Drug Discov Today 2016 Mar;21(3):510-6. Epub 2016 Jan 8 doi: 10.1016/j.drudis.2016.01.001. PMID: 26775751

Clinical prediction guides

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
Sharma P, Kalia S, Chouhan JK
Indian J Ophthalmol 2021 Jul;69(7):1786-1791. doi: 10.4103/ijo.IJO_3751_20. PMID: 34146029Free PMC Article
Koduah C, Bunce C, Gilbert C
Int J Environ Res Public Health 2019 Sep 3;16(17) doi: 10.3390/ijerph16173209. PMID: 31484296Free PMC Article
Hoenders HJ, Bloemendal H
J Gerontol 1983 May;38(3):278-86. doi: 10.1093/geronj/38.3.278. PMID: 6341444

Recent systematic reviews

Qian L, Wei W
PLoS One 2022;17(8):e0271267. Epub 2022 Aug 19 doi: 10.1371/journal.pone.0271267. PMID: 35984830Free PMC Article
Zhang GQ, Chen JL, Luo Y, Mathur MB, Anagnostis P, Nurmatov U, Talibov M, Zhang J, Hawrylowicz CM, Lumsden MA, Critchley H, Sheikh A, Lundbäck B, Lässer C, Kankaanranta H, Lee SH, Nwaru BI
PLoS Med 2021 Aug;18(8):e1003731. Epub 2021 Aug 2 doi: 10.1371/journal.pmed.1003731. PMID: 34339416Free PMC Article
Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
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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