Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
PMID 37647829 | PMCID PMC10872732 | DOI 10.1016/j.ymgme.2023.107688 · Molecular genetics and metabolism · 2023 · View on PubMed ↗
Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG. This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia. Here, we summarized the phenotype of sixty-five individuals including six unreported individuals from our CDG natural history study with a confirmed PGAP3-CDG diagnosis. Common additional features found in this disorder included brain malformations, behavioral abnormalities, cleft palate, and characteristic facial features. This report aims to review the genetic and metabolic findings and characterize the disease's phenotype while highlighting the necessary clinical approach to improve the management of this rare CDG.
Validated evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PGAP3 | “Biallelic pathogenic variants in PGAP3 cause a rare glycosylphosphatidyl-inositol biogenesis disorder, PGAP3-CDG.” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | epilepsy | “This multisystem condition presents with a predominantly neurological phenotype, including developmental delay, intellectual disability, seizures, and hyperphosphatemia.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | cleft lip and palate | “Common additional features found in this disorder included brain malformations, behavioral abnormalities, cleft palate, and characteristic facial features.” | 0.93 | phenotype_alias_lexicon_v2 |