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4 Possible Causes for Mutation in the Phosphoglycerate Dehydrogenase Gene

  • Infantile 3-Phosphoglycerate Dehydrogenase Deficiency

    More Symptoms of Phosphoglycerate dehydrogenase deficiency » Genetics of Phosphoglycerate dehydrogenase deficiency Genetic Changes : Mutations in the PHGDH gene cause phosphoglycerate[familydiagnosis.com] Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency .[ghr.nlm.nih.gov] Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.[genecards.org]

  • 3-Phosphoglycerate Dehydrogenase Deficiency

    Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.[genecards.org] Mutations in the PHGDH gene cause phosphoglycerate dehydrogenase deficiency .[ghr.nlm.nih.gov] , Berger R, Klomp LW タイトル Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.[genome.jp]

  • Autosomal Recessive Myopia 18

    […] by homozygous or compound heterozygous or homozygous mutation in the gene encoding phosphoglycerate dehydrogenase on chromosome 1p12.[smpdb.ca] dehydrogenase deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures.The disorder is caused[smpdb.ca]

  • Neu-Laxova Syndrome Type 2

    No large deletions and duplications have been reported (Human Gene Mutation Database).[preventiongenetics.com] Clinical Sensitivity For the PHGDH gene, clinical sensitivity in large cohort of patients with phosphoglycerate dehydrogenase deficiency or Neu-Laxova syndrome 1 is unavailable[preventiongenetics.com] See More See Less Clinical Features Phosphoglycerate dehydrogenase deficiency is a rare inborn error of the amino acid L-serine biosynthesis that is characterized by congenital[preventiongenetics.com]

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