ALG3 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Involved in glycosylation processes
Clinical phenotype
(OMIM phenotype no.)
  • Congenital disorder of glycosylation type Id (CDG-Id) (#601110)
Inheritance
  • Autosomal recessive
Ocular features
Visual function
  • Progressive vision loss
Systemic features
  • Developmental delay
  • Hypotonia
  • Coagulopathy
Key investigations
  • Genetic testing: identification of ALG3 mutations
Management
  • Multidisciplinary approach including neurology and ophthalmology
  • Supportive care and symptomatic treatment
Therapies under research
  • None at present

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References

  1.  Farolfi M, Cechova A, Ondruskova N, Zidkova J, Kousal B, Hansikova H, Honzik T, Liskova P. ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings. BMC ophthalmology. 2021 Jun 5;21(1):249.
  2.  Himmelreich N, Dimitrov B, Geiger V, Zielonka M, Hutter AM, Beedgen L, Hüllen A, Breuer M, Peters V, Thiemann KC, Hoffmann GF. Novel variants and clinical symptoms in four new ALG3‐CDG patients, review of the literature, and identification of AAGRP‐ALG3 as a novel ALG3 variant with alanine and glycine‐rich N‐terminus. Human Mutation. 2019 Jul;40(7):938-51.

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Updated on July 5, 2024
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