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Cataract, Autosomal Recessive Congenital 1(CATC1)

MedGen UID:
854767
•Concept ID:
C3888098
•
Disease or Syndrome
Synonyms: CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1; CATC1
 
OMIM®: 604219

Professional guidelines

PubMed

Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity Screening.
Chen J, Wang Q, Cabrera PE, Zhong Z, Sun W, Jiao X, Chen Y, Govindarajan G, Naeem MA, Khan SN, Ali MH, Assir MZ, Rahman FU, Qazi ZA, Riazuddin S, Akram J, Riazuddin SA, Hejtmancik JF
Invest Ophthalmol Vis Sci 2017 Apr 1;58(4):2207-2217. doi: 10.1167/iovs.17-21469. PMID: 28418495Free PMC Article
Phenotype-genotype correlations in patients with Marinesco-Sjögren syndrome.
Ezgu F, Krejci P, Li S, de Sousa C, Graham JM Jr, Hansmann I, He W, Porpora K, Wand D, Wertelecki W, Schneider A, Wilcox WR
Clin Genet 2014 Jul;86(1):74-84. Epub 2013 Jul 30 doi: 10.1111/cge.12230. PMID: 23829326
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM
Arch Med Res 2011 Oct;42(7):608-12. Epub 2011 Dec 5 doi: 10.1016/j.arcmed.2011.11.004. PMID: 22154682

Recent clinical studies

Etiology

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.
Ebrahimi-Fakhari D, Saffari A, Wahlster L, Lu J, Byrne S, Hoffmann GF, Jungbluth H, Sahin M
Brain 2016 Feb;139(Pt 2):317-37. Epub 2015 Dec 29 doi: 10.1093/brain/awv371. PMID: 26715604Free PMC Article
Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF
Am J Hum Genet 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008. PMID: 21636066Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article
Neuromuscular disorders in the Gypsy ethnic group. A short review.
Navarro C, Teijeira S
Acta Myol 2003 May;22(1):11-4. PMID: 12966699

Diagnosis

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
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
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Chanarin-Dorfman syndrome.
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
Natural history of mevalonate kinase deficiency: a literature review.
Zhang S
Pediatr Rheumatol Online J 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7. PMID: 27142780Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Therapy

Efficacy of GLP-1 Agonist Therapy in Autosomal Dominant WFS1-Related Disorder: A Case Report.
Scully KJ, Wolfsdorf JI
Horm Res Paediatr 2020;93(6):409-414. Epub 2020 Oct 19 doi: 10.1159/000510852. PMID: 33075784
Early cataract formation due to galactokinase deficiency: impact of newborn screening.
Janzen N, Illsinger S, Meyer U, Shin YS, Sander J, Lücke T, Das AM
Arch Med Res 2011 Oct;42(7):608-12. Epub 2011 Dec 5 doi: 10.1016/j.arcmed.2011.11.004. PMID: 22154682

Prognosis

Congenital cataract: An ocular manifestation of classical homocystinuria.
Saba N, Irshad S
Mol Genet Genomic Med 2021 Sep;9(9):e1742. Epub 2021 Aug 2 doi: 10.1002/mgg3.1742. PMID: 34342182Free PMC Article
Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1.
Lee J, Jung SC, Hong YB, Yoo JH, Koo H, Lee JH, Hong HD, Kim SB, Chung KW, Choi BO
Mol Med Rep 2016 Jul;14(1):33-40. Epub 2016 May 4 doi: 10.3892/mmr.2016.5209. PMID: 27150940Free PMC Article
Natural history of mevalonate kinase deficiency: a literature review.
Zhang S
Pediatr Rheumatol Online J 2016 May 4;14(1):30. doi: 10.1186/s12969-016-0091-7. PMID: 27142780Free PMC Article
Ocular manifestations of trichothiodystrophy.
Brooks BP, Thompson AH, Clayton JA, Chan CC, Tamura D, Zein WM, Blain D, Hadsall C, Rowan J, Bowles KE, Khan SG, Ueda T, Boyle J, Oh KS, DiGiovanna JJ, Kraemer KH
Ophthalmology 2011 Dec;118(12):2335-42. Epub 2011 Sep 28 doi: 10.1016/j.ophtha.2011.05.036. PMID: 21959366Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

Clinical prediction guides

Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.
Goyal S, Singh R, Singh JR, Vanita V
BMC Genomics 2024 Jan 4;25(1):31. doi: 10.1186/s12864-023-09880-7. PMID: 38178039Free PMC Article
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
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
Mutations in FYCO1 cause autosomal-recessive congenital cataracts.
Chen J, Ma Z, Jiao X, Fariss R, Kantorow WL, Kantorow M, Pras E, Frydman M, Pras E, Riazuddin S, Riazuddin SA, Hejtmancik JF
Am J Hum Genet 2011 Jun 10;88(6):827-838. doi: 10.1016/j.ajhg.2011.05.008. PMID: 21636066Free PMC Article
Autosomal recessive congenital cataract linked to EPHA2 in a consanguineous Pakistani family.
Kaul H, Riazuddin SA, Shahid M, Kousar S, Butt NH, Zafar AU, Khan SN, Husnain T, Akram J, Hejtmancik JF, Riazuddin S
Mol Vis 2010 Mar 24;16:511-7. PMID: 20361013Free PMC Article
Congenital cataracts-facial dysmorphism-neuropathy.
Kalaydjieva L
Orphanet J Rare Dis 2006 Aug 29;1:32. doi: 10.1186/1750-1172-1-32. PMID: 16939648Free PMC Article

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